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Sample records for blepharophimosis ptosis epicanthus

  1. Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) and microcephaly

    Energy Technology Data Exchange (ETDEWEB)

    Ishikiriyama, Satoshi [Chiba Children`s Hospital (Japan); Goto, Michiyo [Chiba Rehabilitation Center (Japan)

    1994-08-15

    This succinct {open_quotes}Letter to the Editor{close_quotes} describes recent articles concerning the clinical diagnosis of blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of chromosome 3q. The authors suggested that BPES and microcephaly make up a contiguous gene sydrome; the hypothesis is presented that a putative gene for BPES and some kind of microcephaly are very closely located at 3q23. 10 refs.

  2. Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome

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    Bhavin M Shah

    2014-01-01

    Full Text Available Blepharophimosis ptosis epicanthus inversus syndrome (BPES is a complex eyelid malformation characterized by the classical tetrad of blepharophimosis, telecanthus, ptosis, and epicanthus inversus. It has been reported to be associated with other ocular anomalies such as euryblepharon, strabismus, nystagmus, amblyopia, microphthalmos, lacrimal drainage apparatus abnormality, extra ocular muscle abnormalities, microcornea, trabecular dysgenesis, optic nerve hypoplasias, and colobomas of the optic disk. We describe a case of BPES with Axenfeld-Rieger syndrome, a neurocristopathy characterized by maldevelopment of the anterior segment with predisposition to development of glaucoma. Interestingly, both syndromes are caused by mutations in the same class of genes, namely the winged-helix/forked transcription factors (FOX involved in a variety of developmental processes.

  3. Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES and cleft lip and palate. Report of two Brazilian families

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    N.M. Kokitsu-Nakata

    1998-06-01

    Full Text Available We have evaluated a girl and a boy with the blepharophimosis, ptosis and epicanthus inversus syndrome (BPES. The girl presented cleft palate and the boy showed cleft lip and palate as additional clinical signs. Both showed familial recurrence in fourth and third generations, respectively. The other family members also presented blepharophimosis, ptosis, and epicanthus inversus, but without lip and palatal involvement. There were no additional clinical signs nor infertility in these patients. To our knowledge this is the first instance of cleft lip and palate reported as additional signs of the BPES syndrome.Os autores descrevem uma menina e um menino com a síndrome de blefarofimose, ptose e epicanto inverso (BPES. A menina apresentou fissura de palato e o menino mostrou fissura de lábio e palato como sinais clínicos adicionais. Ambos mostraram recorrência familial em quatro e três gerações, respectivamente. Outros membros de ambas as famílias apresentaram também blefarofimose, ptose e epicanto inverso, mas sem envolvimento de lábio e palato. Não existem sinais clínicos adicionais nem infertilidade nestes pacientes. De acordo com o nosso conhecimento, este é o primeiro relato de fissura de lábio e palato registrada como sinal adicional na síndrome BPES.

  4. Mutation spectrum of fork-head transcriptional factor gene (FOXL2) in Indian Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) patients.

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    Kaur, Inderjeet; Hussain, Avid; Naik, Milind N; Murthy, Ramesh; Honavar, Santosh G

    2011-06-01

    The fork-head transcription factor gene (FOXL2) gene has been implicated in Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) type I and type II. The authors aimed to evaluate the involvement of FOXL2 in familial and sporadic cases of BPES in an Indian cohort. The present cohort comprised clinically well-characterised BPES cases that included six affected families, two sporadic cases and 60 unaffected normal controls. The 5' untranslated and coding region of FOXL2 was screened by resequencing and confirmed by restriction digestion. Further, genotype-phenotype correlations were done to understand the implications of the observed mutation. Six mutations were observed in eight cases (87.5%). These included a novel deletion (c.860delC), three previously reported duplications (c.663-692dup 30, c.672-701dup30 and c.843-859dup17), a frame shift (c.804dupC) and a homozygous missense mutation (p.E69K). The p.E69k mutation was seen in both heterozygous and homozygous form in a large four-generational family, and disease severity was found to be directly linked to the allelic dosage. Two SNPs (c.501C→T, c.536C→G) were also noted. An unusual coexistence of polycystic ovarian disease (PCOD) with BPES was also seen in one of the families. Mutations in the region downstream of the fork-head domain were predominantly responsible for BPES among Indian patients.

  5. A new heterozygous mutation of the FOXL2 gene is associated with a large ovarian cyst and ovarian dysfunction in an adolescent girl with blepharophimosis/ptosis/epicanthus inversus syndrome.

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    Raile, K; Stobbe, H; Tröbs, R B; Kiess, W; Pfäffle, R

    2005-09-01

    Blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), an autosomal dominant syndrome in which eyelid malformation is associated with (type I BPES) or without premature ovarian failure (type II BPES). Mutations of a putative winged helix/forkhead transcription factor FOXL2 account for both types of BPES. We report on a 16-year-old adolescent girl with blepharophimosis and ptosis. Subsequently she developed oligomenorrhea, secondary amenorrhea for 6 months, and an extremely large cyst of one ovary. The cyst contained 8 l of cyst fluid and histopathology displayed a large corpus luteum cyst. Following laparotomy, gonadotropin levels were elevated (LH 17.2 U/l, FSH 29.4 U/l) and estradiol levels decreased (67 pmol/l). Because of clinical aspects of BPES and abnormal ovarian function we suspected a mutation of her FOXL2 gene and found a new in-frame mutation (904_939dup36) on one allele, leading to a 12 alanine expansion within the polyalanine domain. We conclude that the FOXL2 mutation 904_939dup36 may account not only for blepharophimosis and ptosis but also for ovarian dysfunction and growth of the large corpus luteum cyst. In contrast to known FOXL2 mutations with polyalanine expansions and association with BPES type II, clinical aspects of our girl may indicate some degree of ovarian dysfunction that might finally lead to BPES type I with premature ovarian failure.

  6. Blepharophimosis, ptosis, polythelia and brachydactyly (BPPB): a new autosomal dominant syndrome?

    NARCIS (Netherlands)

    Wittebol-Post, D.; Hennekam, R. C.

    1993-01-01

    A father and two sons with blepharophimosis, ptosis, polythelia and brachydactyly are presented, apparently without other abnormalities. The features do not fit into any previously described syndrome. This condition may represent a hitherto undescribed syndrome, although resemblance with the

  7. Genetics Home Reference: blepharophimosis, ptosis, and epicanthus inversus syndrome

    Science.gov (United States)

    ... features. Type I is also associated with an early loss of ovarian function (primary ovarian insufficiency) in women, which causes their menstrual periods to become less frequent and eventually stop before age 40. Primary ovarian insufficiency can lead to difficulty ...

  8. Blepharophimosis, ptosis, epicanthus inversus syndrome type 2 with ...

    African Journals Online (AJOL)

    Our patient had normal psychomotor development. His father was similarly affected suggesting autosomal dominant inheritance. The patient had red brown hair, lymphedema of lower limbs and kidney stones which were not reported before with this syndrome. Most probably these additional features are associations with ...

  9. Blepharophimosis, ptosis, epicanthus inversus syndrome type 2 with ...

    African Journals Online (AJOL)

    Rabah M. Shawky

    2015-01-08

    Jan 8, 2015 ... renal stones measuring 4.3 mm in the left kidney and 3.1 mm in the right kidney ... Arterial blood gas and .... sual facial features and the related head posture, but also to improve ... ment of lymphatic pressure and flow velocity.

  10. Fine Mapping Suggests that the Goat Polled Intersex Syndrome and the Human Blepharophimosis Ptosis Epicanthus Syndrome Map to a 100-kb Homologous Region

    OpenAIRE

    Schibler, Laurent; Cribiu, Edmond P.; Oustry-Vaiman, Anne; Furet, Jean-Pierre; Vaiman, Daniel

    2000-01-01

    To clone the goat Polled Intersex Syndrome (PIS) gene(s), a chromosome walk was performed from six entry points at 1q43. This enabled 91 BACs to be recovered from a recently constructed goat BAC library. Six BAC contigs of goat chromosome 1q43 (ICC1–ICC6) were thus constructed covering altogether 4.5 Mb. A total of 37 microsatellite sequences were isolated from this 4.5-Mb region (16 in this study), of which 33 were genotyped and mapped. ICC3 (1500 kb) was shown by genetic analysis to encompa...

  11. [Therapeutic strategy for different types of epicanthus].

    Science.gov (United States)

    Gaofeng, Li; Jun, Tan; Zihan, Wu; Wei, Ding; Huawei, Ouyang; Fan, Zhang; Mingcan, Luo

    2015-11-01

    To explore the reasonable therapeutic strategy for different types of epicanthus. Patients with epicanthus were classificated according to the shape, extent and inner canthal distance and treated with different methods appropriately. Modified asymmetric Z plasty with two curve method was used in lower eyelid type epicanthus, inner canthus type epicanthus and severe upper eyelid type epicanthus. Moderate upper epicanthus underwent '-' shape method. Mild Upper epicanthus in two conditions which underwent nasal augumentation and double eyelid formation with normal inner canthal distance need no correction surgery. The other mild epicanthus underwent '-' shape method. A total of 66 cases underwent the classification and the appropriate treatment. All wounds healed well. During 3 to 12 months follow-up period, all epicanthus were corrected completely with natural contour and unconspicuous scars. All patients were satisfied with the results. Classification of epicanthus hosed on the shape, extent and inner canthal distance and correction with appropriate methods is a reasonable therapeutic strategy.

  12. Ptosis - infants and children

    Science.gov (United States)

    Blepharoptosis - children; Congenital ptosis; Eyelid drooping - children; Eyelid drooping - amblyopia; Eyelid drooping - astigmatism ... Ptosis in infants and children is often due to a problem with the muscle that raises the eyelid. A nerve problem in the eyelid can ...

  13. Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature.

    Science.gov (United States)

    Bartholdi, Deborah; Toelle, Sandra P; Steiner, Bernhard; Boltshauser, Eugen; Schinzel, Albert; Riegel, Mariluce

    2008-01-01

    Blepharophimosis is a rare congenital anomaly of the palpebral fissure which is often associated with mental retardation and additional malformations. We report on a boy with blepharophimosis, ptosis and severe mental retardation carrying an unbalanced 4;10 translocation with terminal duplication of 10q [dup(10)(q25.1-->qter)] and monosomy of a small terminal segment of chromosome 4q [del(4)(34.3-->qter)]. Detailed clinical examination and review of the literature showed that the phenotype of the patient was mainly determined by the dup(10q). This paper reviews the chromosomal aberrations associated with BMR (blepharophimosis mental retardation) phenotypes. Searching different databases and reviewing the literature revealed 14 microscopically visible aberrations (among them UPD(14)pat) and two submicroscopic rearrangements causing blepharophimosis and mental retardation (BMR) syndrome. Some of these rearrangements-like the terminal dup(10q) identified in our patient or interstitial del(2q)-are associated with clearly defined phenotypes and can be well distinguished from each other on basis of clinical examination. This paper should assist clinicians and cytogeneticists when evaluating patients with BMR syndrome.

  14. Glaucoma Drainage Device Erosion Following Ptosis Surgery.

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    Bae, Steven S; Campbell, Robert J

    2017-09-01

    To highlight the potential risk of glaucoma drainage device erosion following ptosis surgery. Case report. A 71-year-old man underwent uncomplicated superotemporal Ahmed glaucoma valve implantation in the left eye in 2008. Approximately 8 years later, the patient underwent bilateral ptosis repair, which successfully raised the upper eyelid position. Three months postoperatively, the patient's glaucoma drainage implant tube eroded through the corneal graft tissue and overlying conjunctiva to become exposed. A graft revision surgery was successfully performed with no further complications. Caution and conservative lid elevation may be warranted when performing ptosis repair in patients with a glaucoma drainage implant, and patients with a glaucoma implant undergoing ptosis surgery should be followed closely for signs of tube erosion.

  15. Clinical presentation and management of congenital ptosis

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    Marenco M

    2017-02-01

    Full Text Available Marco Marenco,1,* Ilaria Macchi,2,* Iacopo Macchi,3 Emilio Galassi,4 Mina Massaro-Giordano,5 Alessandro Lambiase1 1Department of Sense Organs, University of Rome “Sapienza”, 2Department of Ophthalmology, Campus Bio-Medico University of Rome, Rome, 3Department of Ophthalmology, University of Catania, Catania, 4Ophthalmic Clinic, Department of Ophthalmology, University of L’Aquila, L’Aquila, Italy; 5Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA, USA *These authors contributed equally to this work Abstract: Congenital ptosis is a rare condition characterized by lower positioning of the upper eyelid that is present at birth and is a clinical condition that is persistent if not treated. It may be unilateral or bilateral and may be associated with other ocular disorders or systemic conditions, including Marcus Gunn, Horner, and Duane syndromes. It is a benign condition but causes functional, cosmetic, and psychological problems in children. However, not all patients need to undergo surgery, and usually only patients at risk of amblyopia need a prompt surgical correction, while in other cases, surgery can be postponed. The grade of ptosis, the eyelid function, and the amblyopic risk are the parameters that affect the ophthalmologist’s decision on timing of surgery and the surgical technique to be used. In fact, there are several types of surgical techniques to correct a congenital ptosis, although very often more than one is needed to obtain an acceptable result. This paper reviews the causes of congenital ptosis and associated diseases. Particular emphasis is given to surgical management and different procedures available to correct the upper eyelid anomaly and avoid permanent damage to visual function. Keywords: ptosis, extraocular muscle development, neurologic dysfunction, surgical approach

  16. EVALUATION OF ADJUSTABLE SUTURE TECHNIQUE IN OUTCOME OF PTOSIS SURGERY

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    Nagaraju

    2015-10-01

    Full Text Available AIM: To evaluate the outcome of adjustable suture technique in ptosis surgery. INTRODUCTION : Surgical management of blepharoptosis is indicated in multiple situations and the post - operative outcomes can be as variable as the indications for surgery. Adjustable suture techniques in ptosis repair have been introduced and variable efficacies have been reported. MATERIALS AND METHODS: A retrospective case review of medical records from June 2010 to May 2011 (12 months of 5 eyes of 5 consecutive patients operated by a single surgeon at a Tertiary Eye care center in South India were reviewed. The clinical profile of patients included was r ecorded and results of adjustable suture technique described by Borman and collegues for these patients was reported. RESULTS: 5 eyes of 5 patients underwent adjustable suture ptosis repair in the study duration. 4 patients with moderate and 1 with severe ptosis, all having good levator function were diagnosed to have c ongenital ptosis in 3 cases and a cquired involutional ptosis in 2 cases. All 5 cases had a satisfactory outcome at day 4 post - operative after adjustment of lid height in the out - patient clini c. 1 patient with acquired involutional ptosis, identified with levator dehiscence intra - operatively had overcorrection at 6 months warranting re - surgery while the other 4 patients had satisfactory cosmetic lid height and functional outcome at 6 months fol low up after the adjustable suture technique for ptosis repair. CONCLUSION: Use of adjustable sutures in ptosis surgery can eliminate the intraoperative lid factors that can lead to unpredictable results. The technique described is easy to adapt and perfor m and can give repeatable and well acceptable results in the properly selected cases

  17. Anisometropia and ptosis in patients with monocular elevation deficiency

    International Nuclear Information System (INIS)

    Zafar, S.N.; Islam, F.; Khan, A.M.

    2016-01-01

    Objective: To determine the effect of ptosis on the refractive error in eyes having monocular elevation deficiency Place and Duration of Study: Al-Shifa Trust Eye Hospital, Rawalpindi, from January 2011 to January 2014. Methodology: Visual acuity, refraction, orthoptic assessment and ptosis evaluation of all patients having monocular elevation deficiency (MED) were recorded. Shapiro-Wilk test was used for tests of normality. Median and interquartile range (IQR) was calculated for the data. Non-parametric variables were compared, using the Wilcoxon signed ranks test. P-values of <0.05 were considered significant. Results: A total of of 41 MED patients were assessed during the study period. Best corrected visual acuity (BCVA) and refractive error was compared between the eyes having MED and the unaffected eyes of the same patient. The refractive status of patients having ptosis with MED were also compared with those having MED without ptosis. Astigmatic correction and vision had significant difference between both the eyes of the patients. Vision was significantly different between the two eyes of patients in both the groups having either presence or absence of ptosis (p=0.04 and p < 0.001, respectively). Conclusion: Significant difference in vision and anisoastigmatism was noted between the two eyes of patients with MED in this study. The presence or absence of ptosis affected the vision but did not have a significant effect on the spherical equivalent (SE) and astigmatic correction between both the eyes. (author)

  18. Successful anesthetic management of a child with blepharophimosis syndrome and atrial septal defect for reconstructive ocular surgery

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    Dalim Kumar Baidya

    2011-01-01

    Full Text Available Blepharophimosis syndrome is an autosomal dominant disorder characterized by eyelid malformation, involvement of reproductive system and abnormal facial morphology leading to difficult airway. We report a rare association of blepharophimosis syndrome and atrial septal defect in a 10-year-old girl who came for reconstruction surgery of eyelid. The child had dyspnea on exertion. Atrial septal defect was identified preoperatively by clinical examination and echocardiography. Anesthesia management was complicated by failure in laryngeal mask airway placement and Cobra perilaryngeal airway was subsequently used.

  19. Simultaneous Versus Sequential Ptosis and Strabismus Surgery in Children.

    Science.gov (United States)

    Revere, Karen E; Binenbaum, Gil; Li, Jonathan; Mills, Monte D; Katowitz, William R; Katowitz, James A

    The authors sought to compare the clinical outcomes of simultaneous versus sequential ptosis and strabismus surgery in children. Retrospective, single-center cohort study of children requiring both ptosis and strabismus surgery on the same eye. Simultaneous surgeries were performed during a single anesthetic event; sequential surgeries were performed at least 7 weeks apart. Outcomes were ptosis surgery success (margin reflex distance 1 ≥ 2 mm, good eyelid contour, and good eyelid crease); strabismus surgery success (ocular alignment within 10 prism diopters of orthophoria and/or improved head position); surgical complications; and reoperations. Fifty-six children were studied, 38 had simultaneous surgery and 18 sequential. Strabismus surgery was performed first in 38/38 simultaneous and 6/18 sequential cases. Mean age at first surgery was 64 months, with mean follow up 27 months. A total of 75% of children had congenital ptosis; 64% had comitant strabismus. A majority of ptosis surgeries were frontalis sling (59%) or Fasanella-Servat (30%) procedures. There were no significant differences between simultaneous and sequential groups with regards to surgical success rates, complications, or reoperations (all p > 0.28). In the first comparative study of simultaneous versus sequential ptosis and strabismus surgery, no advantage for sequential surgery was seen. Despite a theoretical risk of postoperative eyelid malposition or complications when surgeries were performed in a combined manner, the rate of such outcomes was not increased with simultaneous surgeries. Performing ptosis and strabismus surgery together appears to be clinically effective and safe, and reduces anesthesia exposure during childhood.

  20. Occlusion therapy of unilateral amblyopia with botulinum toxin induced ptosis.

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    Halkiadakis, Ioannis; Iliaki, Olga; Kalyvianaki, Maria I; Tsilimbaris, Miltiadis K

    2007-01-01

    In order to evaluate the role of botulinum toxin induced ptosis as an occlusion method to treat unilateral deep strabismic amblyopia in two uncooperative children, we injected 0.2 ml of diluted botulinum toxin in the levator palpaebrae; low sedation was necessary in one of the two children. In both cases a marked ptosis was achieved, which lasted about four weeks and then gradually resolved completely. The visual acuity of the ablyopic eye increased in both children, making patching easy thereafter. One child developed amblyopia in the injected eye, which was handled successfully using part-time occlusion. No other side effects were noted. Whether this new method could be a simple, safe and effective alternative method of occlusion for the treatment of deep amblyopia in uncooperative children needs to be proven with a larger series of children.

  1. Automated calculation of ptosis on lateral clinical photographs.

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    Lee, Juhun; Kim, Edward; Reece, Gregory P; Crosby, Melissa A; Beahm, Elisabeth K; Markey, Mia K

    2015-10-01

    The goal is to fully automate the calculation of a breast ptosis measure from clinical photographs through automatic localization of fiducial points relevant to the measure. Sixty-eight women (97 clinical photographs) who underwent or were scheduled for breast reconstruction were included. The photographs were divided into a development set (N = 49) and an evaluation set (N = 48). The breast ptosis measure is obtained automatically from distances between three fiducial points: the nipple, the lowest visible point of breast (LVP), and the lateral terminus of the inframammary fold (LT). The nipple is localized using the YIQ colour space to highlight the contrast between the areola and the surrounding breast skin. The areola is localized using its shape, location and high Q component intensity. The breast contour is estimated using Dijkstra's shortest path algorithm on the gradient of the photograph in greyscale. The lowest point of the estimated contour is set as the LVP. To locate the anatomically subtle LT, the location of patient's axilla is used as a reference. The algorithm's efficacy was evaluated by comparing manual and automated localizations of the fiducial points. The average nipple diameter was used as a cut-off to define success. The algorithm showed 90, 91 and 83% accuracy for locating the nipple, LVP and LT in the evaluation set, respectively. This study presents a new automated algorithm that may facilitate the quantification of breast ptosis from lateral views of patients' photographs. © 2015 John Wiley & Sons, Ltd.

  2. Comportamiento de las ptosis palpebral en el servicio de oculoplastia: Año 2001 Behavior of palpebral ptosis in the oculoplasty service: Year 2001

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    Marta Herrera Soto

    2002-12-01

    Full Text Available Se estudiaron 93 pacientes que acudieron a consulta en el año 2001 y se les realizó examen oftalmológico completo y específico de la ptosis. El 40,86 % se encontraba entre los 15 años o menos. Etiológicamente la ptosis aponeurótica ocupó el 41,8 % seguida de las miogénicas con el 41,1 %. En el grupo de 15 años o menos las ptosis miogénicas representaron el 82,4 % y en mayores de 61 años las aponeuróticas ocuparon el 85,4 %. La ptosis severa cursó con función nula del elevador en el 73,46 %, mientras que la función excelente prevaleció en las leves y moderadas con 56,2 y 31,25 % respectivamente. El 77,9 % no presentaron complicaciones quirúrgicas. Predominaron las edades de 15 o menos años. Dentro de las ptosis aponeuróticas prevalecieron las posquirúrgicas y en las miogénicas, la congénita simple. La función del elevador fue excelente en las ptosis leves y nula en las severas. Predominó la ausencia de complicaciones93 patients that visited our office during the year 2001 and underwent complete and specific ophthalmological examination for ptosis.were studied. 40.86 % were 15 or less. Ethiologically, the aponeurotic ptosis accounted for 41.8 %, followed by the myogenic with 41.1 %. In the group aged 15 or less the myogenic ptosis represented 82.4 % and among those over 61 the aponeurotic accounted for 85.4 %. Severe ptosis had a null function of the elevator in 73.46 %, whereas the excellent function prevailed in the mild and moderate with 56.2 and 31.25 %, respectively. 77.9 % had no surgical complications. It was observed a prevalence among patients aged 15 or under. The postsurgical aponeurotic ptosis predominated within the aponeurotic ptosis, whereas the simple congenital ptosis prevailed among the myogenic. The function of the elevator was excellent in the mild ptosis and nil in the severe. There were no complications

  3. Retrospective Analysis of the Effect of Hering's Law on Outcomes of Surgical Correction of Ptosis.

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    Pan, Er; Yu, Jiangang; Zhang, Shengchang; Nie, Yunfei; Li, Qin

    2018-03-01

    Several factors may influence aesthetic outcomes of ptosis surgery, especially in patients with asymmetrical ptosis. We retrospectively assessed the effect of Hering's law on surgical outcomes of patients with asymmetrical ptosis. Patients with mild to moderate asymmetrical ptosis (N = 300) who underwent advancement or plication of upper eyelid aponeurosis between January 2014 and July 2016 were enrolled. Fifty patients (group A) underwent surgery without taking into consideration the impact of Hering's law. Of these, 35 patients with unilateral ptosis (subgroup A1) underwent standard surgery on the contralateral side, whereas 15 patients with bilateral ptosis (subgroup A2) were first operated on the milder side followed by the more severely affected side.In 250 patients (group B), surgery was performed taking cognizance of the implications of Hering's law. These included 100 patients with unilateral ptosis (B1) and 150 with bilateral ptosis (B2). Difference in bilateral palpebral fissure symmetry by less than 0.5 mm was considered as satisfactory outcome. Duration of postoperative follow-up ranged from 3 to 24 months. Satisfactory outcomes were achieved over 60% of patients in group A (A1, 60.6%; A2, 66.67%) and in 96% of patients in group B (B1, 95%; B2, 96.67%). Patients with unsatisfactory outcomes underwent repair according to Hering's law after 3 months and obtained good results. Application of Hering's law may improve outcomes of corrective surgery in patients with asymmetric ptosis.

  4. Early onset bilateral juvenile myasthenia gravis masquerading as simple congenital ptosis

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    Alam, Md. Shahid

    2017-03-01

    Full Text Available Myasthenia gravis is an autoimmune disorder affecting the neuromuscular junction. Ocular myasthenia gravis presents as ptosis with extraocular motility restriction and is prone to be misdiagnosed as third nerve palsy or congenital or aponeurotic ptosis. Juvenile ocular myasthenia gravis in very young children is difficult to diagnose and can be easily labeled as a case of congenital ptosis, the more so when the condition is bilateral. We present a case of a two-year-old child who presented with bilateral ptosis and was diagnosed as a case of simple congenital ptosis elsewhere with the advice to undergo tarsofrontalis sling surgery. The child was diagnosed with juvenile myasthenia gravis on thorough history, examination, and systemic evaluation and was started on anti-myasthenic treatment.

  5. Cosmetic outcome of three sutures levator aponeurosis tuck procedure in congenital ptosis

    International Nuclear Information System (INIS)

    Hussain, I.

    2006-01-01

    To determine the results of three sutures aponeurosis tuck procedure in patients with congenital ptosis. Twenty-four eyes of 20 patients (13 males and 7 females) with congenital ptosis were included in the study. All these lids had either good or fair levator function. Amount of ptosis in all lids were measured before surgery and their mean calculated. Single surgeon performed the three sutures levator aponeurosis tuck procedure on all these lids. Degree of ptosis, after surgery was measured on multiple occasions and mean of measures of last follow-up was calculated. At this stage, the patients' satisfaction level was also documented. Mean amount of ptosis was 3.25 +- 0.99 mm before surgery and 0.33 +- 0.56 mm after surgery (p < 0.0001). Satisfaction level of 18 (90%) patients was 70-90%, while in 2 (10%) patients it was 50-60%. (author)

  6. Unilateral transient mydriasis and ptosis after botulinum toxin injection for a cosmetic procedure

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    Akkaya S

    2015-02-01

    Full Text Available Sezen Akkaya,1 Hatice Kübra Kökcen,1 Tuğba Atakan2 1Fatih Sultan Mehmet Education and Training Hospital, Ophthalmology Clinics, Bostanci, Istanbul, 2Aksaray Hospital, Ophthalmology Clinics, Konya, Turkey Abstract: We report a case of unilateral transient mydriasis and ptosis after botulinum toxin injection applied by a medical doctor for a cosmetic procedure. A 36-year-old nurse was referred to our eye clinic with unilateral mydriasis and ptosis in the right eye 3 days after botulinum toxin injection for a cosmetic procedure. Botulinum toxin was applied to her eye by a doctor at her hospital who was not an ophthalmologist. She was treated with topical apraclonidine 0.5% ophthalmic solution. Her ptosis decreased to 2 mm with apraclonidine and her visual axis improved. Mydriasis was present for 3 weeks and then disappeared. Mild ptosis continued for 3 months, then resolved completely. Patients seeking treatment with botulinum toxin A for cosmetic purposes should be warned about the possibility of ptosis and mydriasis after injection. If these side effects are seen, the patient must be referred to an ophthalmologist for appropriate management. Keywords: botulinum toxin, mydriasis, ptosis

  7. Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome

    OpenAIRE

    Beysen, D.; Raes, J.; Leroy, B. P.; Lucassen, A.; Yates, J. R. W.; Clayton-Smith, J.; Ilyina, H.; Brooks, S. Sklower; Christin-Maitre, S.; Fellous, M.; Fryns, J. P.; Kim, J. R.; Lapunzina, P.; Lemyre, E.; Meire, F.

    2005-01-01

    The expression of a gene requires not only a normal coding sequence but also intact regulatory regions, which can be located at large distances from the target genes, as demonstrated for an increasing number of developmental genes. In previous mutation studies of the role of FOXL2 in blepharophimosis syndrome (BPES), we identified intragenic mutations in 70% of our patients. Three translocation breakpoints upstream of FOXL2 in patients with BPES suggested a position effect. Here, we identifie...

  8. l-3,4-Dihydroxyphenylalanine induces ptosis through a GPR143-independent mechanism in mice

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    Suguru Ueda

    2016-09-01

    Full Text Available Through its conversion to dopamine by aromatic l-amino acid decarboxylase (AADC, l-3,4-dihydroxyphenylalanine (l-DOPA replenishes depleted brain dopamine in Parkinson's disease patients. We recently identified GPR143 as a candidate receptor for l-DOPA. In this study, we investigated the behavioral actions of l-DOPA in wild type (wt and Gpr143-deficient mice. l-DOPA dose-dependently (10–100 mg/kg, i.p. induced ptosis under treatment with 3-hydroxybenzylhydrazine, a centrally acting AADC inhibitor. This effect was not mimicked by 3-O-methyldopa. l-DOPA-induced ptosis in Gpr143-deficient mice to a similar extent as in wt mice. These results suggest that l-DOPA induces ptosis in a GPR143-independent fashion in mice.

  9. Congenital eyelid ptosis: onset and prevalence of amblyopia, associations with systemic disorders, and treatment outcomes.

    Science.gov (United States)

    Stein, August; Kelly, John P; Weiss, Avery H

    2014-10-01

    To determine the age at onset of amblyopia, the response to occlusion therapy, and the association with systemic disorders in children with congenital eyelid ptosis. Retrospective chart review of children seen at Seattle Children's Hospital with moderate or severe congenital ptosis. Assessments were longitudinal visual acuity development using objective methods, definition of ptosis severity by eyelid margin to pupillary light reflex distance (margin reflex distance [MRD]), age at amblyopia diagnosis, correlation between amblyopia and MRD, and associated systemic disorders. Eighty-four children with moderate-to-severe congenital ptosis met inclusion criteria; the mean longitudinal follow-up was 49.1 months. Fifteen (18%) of these children had amblyopia, of which 9 had deprivation amblyopia (mean age 17.3 months ± 11.2) and 6 had anisometropic or strabismic amblyopia (mean age 60 months ± 11.8). Eleven (73%) of the children with amblyopia were successfully treated with occlusion therapy. Amblyopia was not correlated with MRD. A systemic disorder was identified in 29 (35%) of the children, the most common being genetic, chromosomal, or neurologic conditions. Patients with systemic disorders and developmental delay have significantly lower visual acuity bilaterally compared with patients without systemic disorders (P ≤ .003). Using longitudinal and objective visual acuity assessments, the incidence of amblyopia was 18% in children with moderate to severe congenital ptosis. Visual deprivation was the predominant risk factor that was reliably distinguished by its earlier onset in young children. The best indicator of amblyopia in children is visual acuity rather than MRD measurements. Systemic disorders are frequent in children with moderate to severe congenital ptosis. Copyright © 2014 Elsevier Inc. All rights reserved.

  10. The forkhead transcription factor Foxl2 is sumoylated in both human and mouse: sumoylation affects its stability, localization, and activity.

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    Mara Marongiu

    2010-03-01

    Full Text Available The FOXL2 forkhead transcription factor is expressed in ovarian granulosa cells, and mutated FOXL2 causes the blepharophimosis, ptosis and epicanthus inversus syndrome (BPES and predisposes to premature ovarian failure. Inactivation of Foxl2 in mice demonstrated its indispensability for female gonadal sex determination and ovary development and revealed its antagonism of Sox9, the effector of male testis development. To help to define the regulatory activities of FOXL2, we looked for interacting proteins. Based on yeast two-hybrid screening, we found that FOXL2 interacts with PIAS1 and UBC9, both parts of the sumoylation machinery. We showed that human FOXL2 is sumoylated in transfected cell lines, and that endogenous mouse Foxl2 is comparably sumoylated. This modification changes its cellular localization, stability and transcriptional activity. It is intriguing that similar sumoylation and regulatory consequences have also been reported for SOX9, the male counterpart of FOXL2 in somatic gonadal tissues.

  11. Comparative study on conjoint fascial sheath suspension and levator muscle resection for moderate or severe congenital ptosis

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    Wei Lin

    2016-06-01

    Full Text Available AIM:To compare the curative effect of conjoint fascial sheath(CSFsuspension and levator muscle resection for moderate or severe congenital ptosis. METHODS: Forty-three patients(74 eyeswith moderate or severe ptosis were treated by CSF suspension or levator muscle resection randomly, and followed up for 6mo. The normalization rates of the two operations were then compared by statistical method, and the complications of the two operations were analyzed.RESULTS: The two operations appeared no significant difference on the normalization rate for moderate congenital ptosis(P>0.05, while the normalization rate of CSF suspension on severe congenital ptosis was significantly higher than that of levator muscle resection(PCONCLUSION: CSF suspension is more effective on the treatment of severe congenital ptosis than levator muscle resection, and has advantages such as less trauma, repeatable, and less complication.

  12. Ptosis linked to myasthenia: Case Report | Atipo-Tsiba | East African ...

    African Journals Online (AJOL)

    Ptosis is the consequence of a general or an ophthalmologic pathology, whose etiological diagnosis and treatment can be complex. Eliminating life-threatening emergencies or chronic and severe diseases remain an obsession for the neurologist or the ophthalmologist. Autoimmune myasthenia gravis is a leading to evoke, ...

  13. Open source modular ptosis crutch for the treatment of myasthenia gravis.

    Science.gov (United States)

    Saidi, Trust; Sivarasu, Sudesh; Douglas, Tania S

    2018-02-01

    Pharmacologic treatment of Myasthenia Gravis presents challenges due to poor tolerability in some patients. Conventional ptosis crutches have limitations such as interference with blinking which causes ocular surface drying, and frequent irritation of the eyes. To address this problem, a modular and adjustable ptosis crutch for elevating the upper eyelid in Myasthenia Gravis patients has been proposed as a non-surgical and low-cost solution. Areas covered: This paper reviews the literature on the challenges in the treatment of Myasthenia Gravis globally and focuses on a modular and adjustable ptosis crutch that has been developed by the Medical Device Laboratory at the University of Cape Town. Expert commentary: The new medical device has potential as a simple, effective and unobtrusive solution to elevate the drooping upper eyelid(s) above the visual axis without the need for medication and surgery. Access to the technology is provided through an open source platform which makes it available globally. Open access provides opportunities for further open innovation to address the current limitations of the device, ultimately for the benefit not only of people suffering from Myasthenia Gravis but also of those with ptosis from other aetiologies.

  14. A Novel Approach to Submandibular Gland Ptosis: Creation of a Platysma Muscle and Hyoid Bone Cradle

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    Robert Lukavsky

    2016-07-01

    Full Text Available Submandibular gland ptosis is a common impediment to obtaining superior surgical aesthetic results in neck lift surgery. Techniques for suspending the submandibular gland have been proposed, but these procedures have the drawbacks of disturbing the floor of the mouth mucosa and periosteum. We present an approach of submandibular gland suspension for the treatment of gland ptosis by employing a platysma and hyoid bone fascia cradle. Our technique was performed on cadaveric models. The platysma muscle and hyoid bone cradle for submandibular gland ptosis was created on the left side of the neck in two cadavers. A submental incision with sharp dissection was performed to raise a supraplatysmal flap. A subplatysmal plane was developed until the submandibular gland was identified. Sutures were used to pexy the platysma to the hyoid bone periosteum and deep cervical fascia, tightening the overlying muscle and in turn elevating the submandibular gland. Submandibular gland ptosis must be corrected in order to achieve exemplary aesthetic results. Our approach of creating a cradle with the platysma and hyoid bone avoids the potential complications of previously described sling procedures, while still maintaining the integrity of the gland and surrounding tissues.

  15. Clinical trial comparing autogenous fascia lata sling and Gore-Tex suspension in bilateral congenital ptosis

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    Elsamkary MA

    2016-03-01

    Full Text Available Mahmoud Ahmed Elsamkary,1 Maged Maher Salib Roshdy1,2 1Ophthalmology Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt; 2Pediatric Ophthalmology Department, Al Watany Eye Hospital, Cairo, Egypt Purpose: To study the effect of autogenous fascia lata sling (AFLS versus Gore-Tex suspension (GTS regarding the functional and aesthetic outcomes in patients with bilateral congenital ptosis. Patients and methods: A prospective comparative randomized single-center study enrolled 110 patients with bilateral congenital ptosis. One group (n=55 underwent AFLS and the second group (n=55 underwent GTS. Exclusion criteria were good levator function, absent Bell’s phenomenon, and abnormal ocular motility. Follow-up period was 2 years. Functional outcome was measured from digital photos by analysis of upper eyelid margin position relative to the superior limbus and classified as very good (<3 mm, good (3–5 mm, poor (>5 mm, and recurrent. Aesthetic outcome was assessed in terms of lid contour, symmetry of eyelid height, and lid crease presence. Complications were also reported. Results: Failure rate (recurrence and complications was less in AFLS (P=0.035. Symmetrical lid height and good contour were more frequently attained by AFLS (P=0.007 and 0.047, respectively. However, the frequency of very good, good, poor, recurrence, lagopthalmos, ectropion, infection, and formed lid crease individually showed no statistically significant difference (P=0.252, 0.482, 1, 0.489, 0.438, 1, 0.618, and 0.506, respectively. Conclusion: AFLS is a better choice in surgery for patients with bilateral congenital ptosis because it has fewer complications and a lesser recurrence rate than GTS. Keywords: ptosis surgery, surgical outcomes, ptosis recurrence, lagophthalmos

  16. Ptose palpebral associada a paquidermoperiostose: relato de caso Eyelid ptosis associated with pachydermoperiostosis: case report

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    Ana Paula Ximenes Alves

    2005-06-01

    Full Text Available Descreve-se caso clínico de um indivíduo acometido por paquidermoperiostose, cuja queixa principal foi ptose palpebral bilateral. Trata-se de doença hereditária, autossômica dominante, que acomete a pele, os ossos e os tecidos moles, resultando em acentuada hipertrofia tarsal. Discute-se a fisiopatologia da ptose e o tratamento executado no caso.We describe a clinical case of a patient with pachydermoperiostosis and bilateral palpebral ptosis. It is a hereditary, dominant autosomic disease, which affects skin, bones and soft tissues. In the eyelid, it causes an important tarsal hypertrophy. We discuss the physiopathology and treatment of the ptosis.

  17. Corrección de ptosis palpebral por la incisión de blefaroplastia Upper eyelid ptosis treatment using blepharoplasty incision

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    A. Novo Torres

    2006-09-01

    Full Text Available Se entiende por blefaroptosis el nivel anormalmente bajo del párpado superior durante la mirada directa. Los mejores resultados se obtienen con las técnicas de resección o avance del músculo elevador o su aponeurosis, siempre que el elevador posea una función adecuada. Nuestra intención es presentar una modificación a la técnica de Blaskovics para la corrección de blefaroptosis moderadas, con buena función del elevador Presentamos una serie de 10 casos donde se utilizó una variante de la operación de Blaskovics de resección del elevador para la corrección quirúrgica de la ptosis palpebral. De los 10 casos, 7 fueron bilaterales y 3 unilaterales. En todos ellos la función del elevador se situaba entre 4 y 8 mm y el grado de ptosis fue mayor de 4 mm con disminución del campo visual en la mirada directa. La técnica quirúrgica incluyó un abordaje cutáneo mediante la incisión horizontal de Blefaroplastia superior, la exposición amplia del músculo elevador y su aponeurosis, respetando las bolsas grasas orbiculares y separándolo de la conjuntiva palpebral. En todos los casos se obtuvo corrección de las ptosis. El grado de asimetría fue inferior a 0,3 cm. Un caso presentó en el postoperatorio inmediato dehiscencia de la sutura en su lado medial y tuvo que ser reintervenido a los 10 días. El edema palpebral postoperatorio se resolvió a partir del 2º día postoperatorio desapareciendo hacia el día 8º y permitiendo una valoración fiable en dicha fecha. El grado de satisfacción de los paciente fue bueno o muy bueno y el campo visual fue completo en todos los pacientes Las técnicas clásicas y sus modificaciones para la corrección de los casos de ptosis siguen teniendo validez. Con esta modificación que respeta la conjuntiva palpebral ocular se evita añadir morbilidad al proceso quirúrgico. Pensamos que la integridad de la conjuntiva redunda en un mayor confort postoperatorio al paciente, disminuye el edema conjuntival

  18. Comparative study on conjoint fascial sheath suspension and levator muscle resection for moderate or severe congenital ptosis

    OpenAIRE

    Wei Lin; Yang Xu; Fei-Lun Ye

    2016-01-01

    AIM:To compare the curative effect of conjoint fascial sheath(CSF)suspension and levator muscle resection for moderate or severe congenital ptosis. METHODS: Forty-three patients(74 eyes)with moderate or severe ptosis were treated by CSF suspension or levator muscle resection randomly, and followed up for 6mo. The normalization rates of the two operations were then compared by statistical method, and the complications of the two operations were analyzed.RESULTS: The two operations appeared no ...

  19. Optimizing aesthetic outcomes for breast reconstruction in patients with significant macromastia or ptosis

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    Wojciech Dec

    2018-06-01

    Full Text Available Background: Achieving excellent aesthetic outcomes in reconstruction of large or ptotic breasts is especially challenging. Incorporating a Wise pattern into the mastectomy design is effective in reducing the excess breast skin, however it increases the risk of mastectomy skin necrosis. The aim of this study is to describe surgical maneuvers which optimize aesthetic outcomes, anticipate flap volume requirements, and limit mastectomy skin necrosis in autologous reconstruction in patients with macromastia and grade III ptosis. Methods: This is a retrospective review of operative and clinical records of patients who underwent unilateral or bilateral breast reconstruction with autologous tissue between August 2015 and May 2017. Patients were divided into macromastia and ptosis groups. Key surgical maneuvers for safely achieving aesthetically optimal results were identified. Results: A total of 29 breasts were successfully reconstructed in 19 patients with a Wise pattern mastectomy skin reduction. Free flap weights were similar in both groups, mastectomy weights were greater in the macromastia group, p < 0.05. Complications were limited to three cases of wound breakdown and one case of mastectomy skin necrosis. Total number of revision stages was reduced in unilateral reconstructions when a contralateral breast reduction or mastopexy was performed during the first stage. Conclusions: A Wise pattern can safely and effectively be incorporated into a mastectomy incision design in patients who are not candidates for a nipple sparing mastectomy. Optimal aesthetics are achieved with similar volume flaps for both macromastia and ptosis patients. In cases of unilateral breast reconstruction a contralateral breast reduction or mastopexy should be performed at the time of the immediate breast reconstruction. Keywords: Breast reconstruction, Aesthetic breast reconstruction, Macromastia breast reconstruction, Ptosis breast reconstruction

  20. EVALUATION OF OUTCOME OF VARIOUS SURGICAL PROCEDURES FOR UPPER EYELID PTOSIS

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    Nagaraju

    2015-02-01

    Full Text Available INTRODUCTION: There are various procedures available for ptosis correction. Successful outcome not only depends on correct technique but also choosing appropriate procedure for each patient. Selection of procedure is based on available levator function and also other factors like etiology, severity, Bell’s phenomenon etc. If such varied procedure s are performed in a group of patients based on standard criteria and results are evaluated systematically we can determine what works best for a given patient . AIM : Evaluation of outcome of various surgical procedures for upper eyelid ptosis . METHODOLOGY : 25 eyelids of 20 patients who presented to a tertiary centre in south India with complaint of drooping of upper lid were considered. All subjects underwent complete ocular examination corrected visual acuity and detailed ptosis evaluation with particular emphasis on measurement of levator muscle function, MRD1 (margin reflex distance - 1, palpebral fissure width in different gazes and margin crease distance. The effect of various factors like MRD1, MCD, levator function were assessed, the amount of correction required and appropriate surgical procedure was chosen. Surgical procedure of Levator resection, frontalis sling operation, anterior levator aponeurosis advancement, o r other ptosis correction procedures under appropriate anaesthesia were performed. Post - operative evaluation in terms of visual acuity, MRD, Interpalpebral fissure height, lid symmetry, lagophthalmos and complications (if any was done. RESULTS : Levator muscle resection was done in 28% of eyelids, frontal sling surgery in 60% of eyelids, Levator muscle plication in 8% eyelids and levator muscle disinsertion with frontal sling surgery in 4% eyes. Undercorrection was seen in about 44% of eyelids in varying degrees. 56% of the eyes had optimal correction. Symmetric correction was achieved in 76% of eyelids. CONCLUSION: The influence of various preoperative factors on the

  1. Outcome of Ptosis Surgery in Patients with Chronic Progressive External Ophthalmoplegia

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    Şeyda Uğurlu

    2014-10-01

    Full Text Available Objectives: To evaluate the clinical features and the outcome of ptosis surgery in patients with chronic progressive external ophthalmoplegia (CPEO. Materials and Methods: The demographic features, surgical approaches, anatomic and functional outcomes, and complications were reviewed in patients with CPEO who had undergone ptosis surgery by a single surgeon between the years 2005 and 2013. The patients were asked to evaluate their postoperative result as either worse, no change, good, or very good. Results: Seven men and 5 women with an average age of 50±14.08 years (range: 28-72 were included in the study. Ragged red fibers (RRF were identified in 5 out of 9 patients’ levator and orbicularis muscle biopsy specimens. Average levator function was 5.4±2.6 mm (range: 2-9. Frontalis suspension surgery with silicone rod was performed in 8 patients; two of those 8 patients had lower lid elevation with hard palate graft prior to ptosis surgery. The remaining 4 patients had levator resection. Postoperative margin reflex distance -1 was between +1 and +3 in all patients. One patient had punctate keratopathy following surgery, which responded rapidly to intensive use of lubricants. Head position was improved in all patients; postoperative result was rated ‘very good’. Conclusion: Eyelid elevation must be tailored to result in sufficient interpalpebral area so as to allow for normal visual function and avoid exposure keratopathy. Lower eyelid elevation with hard palate graft may help to achieve this goal by displacing the interpalpebral area superiorly without introducing additional risk for corneal exposure. (Turk J Ophthalmol 2014; 44: 379-83

  2. Frontalis Sling Operation using Silicone Rod Compared with Autogenous Fascia Lata for Simple Congenital Ptosis

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    Purnima Rajkarnikar Sthapit

    2014-09-01

    Full Text Available Introduction: To evaluate the cosmetic results and recurrence of unilateral frontalis sling surgery using a silicone rod compared with autogenous fascia lata in cases of simple congenital ptosis. Methods: This is a retrospective comparative study of 59 patients who underwent a frontalis sling operation for congenital ptosis. Patients were divided into two groups according to the sling material used; an autogeneous fascia lata (fl group (n = 24 and a silicone rod group (sl (n = 35. Cosmetic results and recurrence rates were compared between these 2 groups. The cosmetic results of the frontalis sling operation were assessed as good, fair, or poor based on the difference between the Margin Reflex Distance of both eyelids and graded as good if the difference in two eyes was ≤1mm and poor if it was 2mm or more. Recurrence was defined as the conversion of the cosmetic result from good or fair to poor category. Results: At postoperative day seven and 30, MRD of both the groups were good but on three months follow-up MRD of silicon rod group dropped, however it was not statistically significant .Lid contour was good in both the groups, however, lid symmetry was poor in two cases of fascia lata at three months follow-up. Repeat surgery for poor outcome was done in 8.6% of cases in silicon rod and 8.3% of fascia lata group. Conclusions: The frontalis sling operation using either a silicone rod or autogenous fascia lata showed equally good cosmetic results and lower recurrence rate at three months follow up. Keywords: congenital ptosis; fascia lata; frontalis sling surgery; margin reflex distance; silicone rod.

  3. Unilateral ptosis

    African Journals Online (AJOL)

    PROF. EZECHUKWU

    2013-11-23

    Nov 23, 2013 ... Chronic sinusitis is an inflammatory lesion that involves the paranasal sinuses with ... nasal stuffiness, nasal discharge, postnasal drip, facial pain/pressure ... superior rami branch of the occulomotor nerve by the surrounding ...

  4. Ptosis Palpebral in a Urban Area named: December 5. Paez Municipality, Portuguesa State. Venezuela 2007.

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    Milenis López León

    2010-04-01

    Full Text Available A descriptive longitudinal prospective study was made in the Urban Area named December 5 of Páez Municipality, Portuguesa State, in The Venezuela’s Republic, including only the period since September 4 to December 11, 2007 with the objective to define the clinical epidemiological state of Ptosis Palpebral in the Region mentioned. The universe was conformed by 7000 patients of all ages, being a sample of 60 ill persons, for obtaining the information a structural interview was used made by the authors, having productiveness the use of Ophthalmology clinical backgrounds of each person; the obtaining data were introduced in a Pentium IV computer by means of EPINFO Program to calculate them. The female sex was the one that predominate, and it happens the same wit the skin colour (not white finding the ages between 21 and 41 years as high frequency. The moderate ptosis was the most usual, predominating the unilaterals and from etiological point of view: The acquires; obtaining the traumatics the highest incidence within them; resulting ametropias as the ocular pathologies more notables in studied patients and a considerable number of them were tributary of the surgical treatment even though the latest diagnostic, that´s why a previous detection is imposed of the referred entity, helping to improve your Qualitiy Life and reincorporating to your society .

  5. Treatment of bilateral mammary ptosis and pectus excavatum through the same incision in one surgical stage

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    Fernando Passos Rocha

    Full Text Available CONTEXT: Congenital deformities of the anterior thoracic wall are characterized by unusual development of the costal cartilages. All these medical conditions are frequently associated with a variety of breast deformities. Several surgical techniques have been described for correcting them, going from sternochondroplasty to, nowadays, minimally invasive techniques and silicone prosthesis implantation. CASE REPORT: The present article reports the case of a young female patient who presented bilateral mammary ptosis and moderate pectus excavatum that caused a protrusion between the eighth and the tenth ribs and consequent esthetic disharmony. The proposed surgical treatment included not only subglandular breast implants of polyurethane, but also resection of part of the rib cartilage and a bone segment from the eighth, ninth and tenth ribs by means of a single submammary incision in order to make the scar minimally visible. Correction through a single incision benefited the patient and provided an excellent esthetic result. CONCLUSIONS: The techniques used to repair bilateral mammary ptosis and pectus excavatum by plastic and thoracic surgery teams, respectively, have been shown to be efficient for correcting both deformities. An excellent esthetic and functional result was obtained, with consequent reestablishment of the patient's self-esteem.

  6. Correction of congenital ptosis of the eyelid by frontal muscle transposition

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    Jevtović Dobrica

    2002-01-01

    Full Text Available Congenital ptosis (CP represents a significant reconstructive problem Numerous studies have not yet provided full and satisfactory results. In this study, we have presented our experience in the surgical treatment of 108 patients by the use of Son Ye Guang's modified method - frontal muscle transposition. A total of 108 patients with CP were surgically treated at the Clinic for Plastic Surgery and Burns of the Military Medical Academy in the period 1991-2000. Unilateral ptosis was operated in 85 patients, and bilateral in 23 patients. CP was more frequently found in males (58.34% than in females (41.66%. The youngest patient was only 5.5 years old, and the oldest was 42, the average age was 21.3 years. All patients were operated on by the same surgeon, and were monitored monthly during the first six months and then twice a year for the next 3 years. Postoperative results were evaluated after 6 months: the action of raising the eyelids was compared to the full amplitude of movement of the eye on the healthy side. The closure of the eyelids and the symmetry of the palpebral fissure in a steady horizontal view was also assessed. The action of the opening as well as closure of the eyelids in full amplitude was obtained in all operated patients. Asymmetry of the palpebral fissure in a steady horizontal view up to 1 mm did not require additional correction. In 9 cases, asymmetry of the palpebral fissure greater than 1 mm was subsequently corrected. The advantages of this surgical method compared to the other, previously described techniques, were emphasized in the conclusion. The main advantage was the elimination of postoperative lagophthalmos, which represented the problem in all previously used methods.

  7. Posterior fossa reconstruction using titanium plate for the treatment of cerebellar ptosis after decompression for Chiari malformation.

    Science.gov (United States)

    Udani, Vikram; Holly, Langston T; Chow, Daniel; Batzdorf, Ulrich

    2014-01-01

    We describe our use of a perforated titanium plate to perform a partial posterior fossa cranioplasty in the treatment of cerebellar ptosis and dural ectasia after posterior fossa decompression (PFD). Twelve patients who had undergone PFD underwent posterior fossa reconstruction using a titanium plate. Symptoms were related to either descent of the cerebellum into the decompression or to dural ectasia into the craniectomy defect. Twelve patients who had undergone large suboccipital craniectomies and who presented with persistent headaches and some with neurological symptoms related to syringomyelia, underwent reoperation with placement of a small titanium plate. Ten of 12 patients showed symptomatic improvement after reoperation. Placement of a titanium plate appears to be an effective method of treatment of cerebellar ptosis and dural ectasia after PFD for Chiari malformation. Copyright © 2014 Elsevier Inc. All rights reserved.

  8. SIX2 haploinsufficiency causes conductive hearing loss with ptosis in humans.

    Science.gov (United States)

    Guan, Jing; Wang, Dayong; Cao, Wenjian; Zhao, Yali; Du, Renqian; Yuan, Hu; Liu, Qiong; Lan, Lan; Zong, Liang; Yang, Ju; Yin, Zifang; Han, Bing; Zhang, Feng; Wang, Qiuju

    2016-11-01

    The ossicles represent one of the most fundamental morphological features in evolutionary biology of the mammalians. The mobile ossicular morphology abnormalities result in the severe conductive hearing loss. Development and patterning of the middle ear malformation depend on genetic and environmental causes. However, the genetic basis for the risk of congenital ossicle malformation is poorly understood. We show here nine affected individuals in a Chinese pedigree who had bilateral conductive hearing loss with ptosis. We performed whole-genome sequencing and array comparative genomic hybridization (CGH) analysis on DNA samples from the Chinese pedigree. We confirmed the presence of a novel 60 kb heterozygous deletion in size, encompassing SIX2 in our family. Mutation screening in 169 sporadic cases with external ear and middle ear malformations identified no pathogenic variant or polymorphism. We suggest SIX2 haploinsufficiency as a potential congenital factor could be attributed to developmental malformation of the middle ear ossicles and upper eyelid. To the best of our knowledge, this is the first report to provide a description of copy number variation in the SIX2 gene resulting in syndromic conductive hearing loss.

  9. Frontal suspension for congenital ptosis using an expanded polytetrafluoroethylene (Gore-Tex® sheet: one-year follow-up

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    Nakauchi K

    2013-01-01

    Full Text Available Kazuaki Nakauchi,1 Hidenori Mito,2 Osamu Mimura11Hospital of Hyogo College of Medicine, Hyogo, 2Ide Eye Hospital, Yamagata, JapanBackground: The frontalis suspension technique is the surgical method of choice in patients with ptosis and a levator function of 4 mm or less. Several types of materials have been used, including Gore-Tex®, which has been used successfully as a frontalis sling material since 1986. Recently, a Gore-Tex sheet (wider than a sling or strip suspension was reported. This paper reports the results of 27 eyes from 20 patients with congenital ptosis treated using the frontalis suspension technique with the newly developed Gore-Tex Most Versatile Patch (MVP sheet.Methods: All patients underwent surgery between April 2007 and September 2011 and were followed up for at least one year. The average follow-up duration was 18 months, with a range of 12–36 months. The average patient age was 45 (5–85 years, and the group included 11 males and nine females. Thirteen cases demonstrated ptosis in one eye, and seven cases involved both eyes. The patients were divided by age into a younger group and an older group. All ptosis procedures were performed using the Gore-Tex MVP sheet. The implant was normally 7 mm wide for adults and 5 mm wide for children. The implantation method was the same as that used for the sheet shape fascia.Results: In all patients, satisfactory functional results were observed at the 6-month follow-up examination. Eyelid opening heights were also obtained. The average marginal reflex distance (MRD was -0.5 mm preoperatively, which improved to +1.9 mm after surgery. After one year, average MRD was +1.6 mm. MRD attenuation was more frequent in the younger group. There were no cases requiring redo surgery and only one case of exposure.Keywords: polytetrafluoroethylene, Gore-Tex®, frontalis suspension, congenital ptosis, recurrence

  10. Surgical treatment of gynecomastia with severe ptosis: periareolar incision and dermal double areolar pedicle technique.

    Science.gov (United States)

    Cannistra, Claudio; Piedimonte, Andrea; Albonico, Fiorella

    2009-11-01

    Gynecomastia is a morphostructural impairment of the mammary region in men caused by parenchymal hypertrophy or a cutaneous distortion of breast skin covering or both. The clinical classification introduced by Simon et al. in 1973 ranks gynecomastia in three degrees. Each subtype can be treated with a specific technique. This article describes an alternative surgical procedure for treating gynecomastia with severe ptosis(type III and type IIIb of Simon's classification). Fifty-eight patients were treated for gynecomastia in our Plastic Surgery Unit from 1996 to 2004. The cutaneous excess of periareolar skin is evaluated by a pinching test. A circular periareolar mark is traced corresponding to the cutaneous excess that has to be removed.Initially, liposuction of adipous tissue on the periphery of the mammary region is performed through two cutaneous 3-mm incisions at the 3 o'clock and 9 o'clock positions around the areola. After this, the liposuction incisions are enlarged from 10 o'clock to 8 o'clock and from 2 o'clockto 4 o'clock to create access for the mastectomy. This dissection creates a double dermal areolar pedicle. The new areolar position is fixed with a Benelli round block suture. A resolution of the morphologic deformity without evident scars after hair growth and a correction of the breast deformity has been observed in the 6-month follow-ups conducted for all the patients. We observed that the vascular-nervous net under the areola at 12 o'clock and 6 o'clock is very important, more so than the lateral pedicle, and the conservation of a double vascular-nervous pedicle reduces significantly the risk of areolar necrosis, especially in cases of gynecomastia type III and in cases where there is a high degree of breast malformation such as the tuberous breast.

  11. Novel Homozygous Missense Mutation in RYR1 Leads to Severe Congenital Ptosis, Ophthalmoplegia, and Scoliosis in the Absence of Myopathy.

    Science.gov (United States)

    Dilaver, Nafi; Mazaheri, Neda; Maroofian, Reza; Zeighami, Jawaher; Seifi, Tahere; Zamani, Mina; Sedaghat, Alireza; Shariati, Gholam Reza; Galehdari, Hamid

    2017-12-01

    Ryanodine receptor 1 ( RYR1 ) is an intracellular calcium receptor primarily expressed in skeletal muscle with a role in excitation contraction. Both dominant and recessive mutations in the RYR1 gene cause a range of RYR1 -related myopathies and/or susceptibility to malignant hyperthermia (MH). Recently, an atypical manifestation of ptosis, variably presenting with ophthalmoplegia, facial paralysis, and scoliosis but without significant muscle weakness, has been reported in 9 cases from 4 families with bialleic variants in RYR1 . Two affected children from a consanguineous family with severe congenital ptosis, ophthalmoplegia, scoliosis, and distinctive long faces but without skeletal myopathy were studied. To identify the cause of the hereditary condition, DNA from the proband was subjected to whole exome sequencing (WES). WES revealed a novel homozygous missense variant in RYR1 (c.14066T>A; p.IIe4689Asn), which segregated within the family. Although the phenotype of the affected siblings in this study was similar to previously described cases, the clinical features were more severely expressed. Our findings contribute to the expansion of phenotypes related to RYR1 dysfunction. Additionally, it supports a new RYR1 -related clinical presentation without musculoskeletal involvement. It is important that individuals with RYR1 mutations are considered susceptible to MH, as 70% of the MH cases are caused by mutations in the RYR1 gene.

  12. Surgical Approach, Findings, and Eight-Year Follow-Up in a Twenty-Nine Year Old Female With Freeman-Sheldon Syndrome Presenting With Blepharophimosis Causing Near-Complete Visual Obstruction.

    Science.gov (United States)

    Portillo, Augusto L; Poling, Mikaela I; McCormick, Rodger J

    2016-07-01

    The authors describe the surgical approach, findings, and 8-year follow-up in a 29-year-old woman, with severe Freeman-Sheldon syndrome, presenting with congenital blepharophimosis of both upper eyelids resulting in near-complete functional visual obstruction. To avoid possible Freeman-Sheldon syndrome-associated complications of malignant hyperthermia, difficult vascular access, and challenging endotracheal intubation, the surgery was completed under local anesthesia without sedation, and anatomical and functional correction was immediate and remained stable at 8-year follow-up. Unlike many congenital craniofacial syndromes, which frequently involve life-long impairments, important implications exist for plastic surgeons to facilitate opportunities for patients to overcome functional limitations.

  13. A gene prenature ovarian failure associated with eyelid malformation maps to chromosomes 3q22-q23

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1996-05-01

    Premature ovarian failure and XX gonadal dysgenesis leading to female infertility have been reported in association with an autosomal dominantly inherited malformation of the eyelids: blepharophimosis-ptosis-epicanthus inversus syndrome (BPES; MIM 110100). This association distinguishes BPES type I from BPES type II, in which affected females are fertile and the transmission occurs through both sexes. Recently, a gene responsible for BPES type II has been mapped to chromosome 3q22-q23, and the critical region for the gene location has been reduced to the interval between loci D3S1615 and D3S1316. Hitherto, however, no information regarding the localization of the gene for BPES type I, in which female ovarian failure is associated with eyelid malformation, has been available. We have studied two independent families affected with BPES type I, including a total of 12 affected individuals (6 infertile women) and 6 healthy relatives. The diagnostic criteria for the ophthalmological anomaly included (1) reduced horizontal diameter of palpebral fissures, (2) drooping of the upper eyelids, and (3) an abnormal skinfold running from the lower lids. Telecanthus and a flat nasal bridge were present in most cases. In both families the disease was transmitted only by the male, and no affected woman of childbearing age was fertile. 12 refs., 2 figs., 1 tab.

  14. FOXL2 Is an Essential Activator of SF-1-Induced Transcriptional Regulation of Anti-Müllerian Hormone in Human Granulosa Cells.

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    Hanyong Jin

    Full Text Available Anti-Müllerian hormone (AMH is required for proper sexual differentiation by regulating the regression of the Müllerian ducts in males. Recent studies indicate that AMH could be an important factor for maintaining the ovarian reserve. However, the mechanisms of AMH regulation in the ovary are largely unknown. Here, we provide evidence that AMH is an ovarian target gene of steroidogenic factor-1 (SF-1, an orphan nuclear receptor required for proper follicle development. FOXL2 is an evolutionally conserved transcription factor, and its mutations cause blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES, wherein affected females display eyelid defects and premature ovarian failure (POF. Notably, we found that functional FOXL2 is essential for SF-1-induced AMH regulation, via protein-protein interactions between FOXL2 and SF-1. A BPES-inducing mutant of FOXL2 (290-291delCA was unable to interact with SF-1 and failed to mediate the association between SF-1 and the AMH promoter. Therefore, this study identified a novel regulatory circuit for ovarian AMH production; specifically, through the coordinated interplay between FOXL2 and SF-1 that could control ovarian follicle development.

  15. Ptosis as partial oculomotor nerve palsy due to compression by infundibular dilatation of posterior communicating artery, visualized with three-dimensional computer graphics: case report.

    Science.gov (United States)

    Fukushima, Yuta; Imai, Hideaki; Yoshino, Masanori; Kin, Taichi; Takasago, Megumi; Saito, Kuniaki; Nakatomi, Hirofumi; Saito, Nobuhito

    2014-01-01

    Oculomotor nerve palsy (ONP) due to internal carotid-posterior communicating artery (PcomA) aneurysm generally manifests as partial nerve palsy including pupillary dysfunction. In contrast, infundibular dilatation (ID) of the PcomA has no pathogenic significance, and mechanical compression of the cranial nerve is extremely rare. We describe a 60-year-old woman who presented with progressive ptosis due to mechanical compression of the oculomotor nerve by an ID of the PcomA. Three-dimensional computer graphics (3DCG) accurately visualized the mechanical compression by the ID, and her ptosis was improved after clipping of the ID. ID of the PcomA may cause ONP by mechanical compression and is treatable surgically. 3DCG are effective for the diagnosis and preoperative simulation.

  16. Pubic contouring after massive weight loss in men and women: correction of hidden penis, mons ptosis, and labia majora enlargement.

    Science.gov (United States)

    Alter, Gary J

    2012-10-01

    Weight gain and subsequent weight loss usually result in unsightly large fat deposition in the pubic areas along with ptosis of the fat pad and skin. Men also complain of burying of the penis and the woman complains of labia majora enlargement, both causing secondary sexual dysfunction, hygiene issues, discomfort, and aesthetic concerns. Even with weight loss, most of these deformities persist. The hidden (buried) penis is characterized by a lack of firm attachments between the Buck fascia surrounding the tunica albuginea of the corpora and the dartos fascia and skin. Successful treatment requires the penile skin and dartos fascia to be stabilized to the penile corporal bodies to make the penis one integrated unit. The method of surgery is usually to excise and lift excess pubic skin, eliminate the pubic fat without creating a significant pubic concavity, and stabilize the penile skin to the corporal bodies with tacking sutures dorsally and ventrally. If inadequate penile skin is present, scrotal flaps or skin grafts are used to cover the penis. Treatment of the mons pubis requires similar pubic lifting, fat excision, and pubic tacking. Labia majora reduction requires skin and usually fat excision. Results are excellent with the use of these techniques. Pubic contouring after massive weight loss in men and women is very successful and safe if performed meticulously. Treatment improves self-esteem along with the associated physical and aesthetic deformities.

  17. A prospective study of breast anthropomorphic measurements, volume and ptosis in 605 Asian patients with breast cancer or benign breast disease.

    Directory of Open Access Journals (Sweden)

    Nai-Si Huang

    Full Text Available The current study aims to summarize breast anthropomorphic measurement features in Chinese patients with breast diseases and to investigate their potential correlations with demographic factors.Fifteen breast anthropomorphic parameters of 605 Chinese female patients were collected prospectively. Breast ptosis status was scaled by two methods and breast volume was calculated according to a modified formula of BREAST-V.Among 1210 breasts, the average breast volume was 340.0±109.1 ml (91.8-919.2 ml. The distance from the nipple to the inframammary fold was 7.5±1.6 cm in the standing position. The width of the breast base was 14.3±1.4 cm (8.5-23.5 cm. The incidence of breast ptosis was 22.8% (274/1204, of which 37 (23.5% and 79 (31.7% women had severe ptosis assessed by different criteria. Increased height (OR[odds ratio] = 1.500, P<0.001, post-menopausal status (OR = 1.463, P = 0.02, increased BMI, breastfeeding for 7-12 months (OR = 1.882, P = 0.008 and more than one year (OR = 2.367, P = 0.001 were risk factors for an increased breast volume. Post-menopausal status (OR = 2.390, P<0.001 and OR = 2.621, P<0.001 for different scales, BMI≥24.7 kg/m2 (OR = 3.149, P<0.001 and OR = 2.495, P = 0.002, breastfeeding for 7-12 months (OR = 4.136, P = 0.004 and OR = 4.010, P = 0.002, and breastfeeding for more than one year (OR = 6.934, P<0.001 and OR = 6.707, P<0.001 were independent risk factors for breast ptosis.The current study provides anthropomorphic measurements data of Chinese women with breast diseases, which are useful for cosmetic and reconstructive breast surgery decisions. Post-menopausal status, increased BMI, and breastfeeding for more than six months were independent risk factors for both increased breast volume and breast ptosis.

  18. Resultados postquirúrgicos de la ptosis palpebral asociada a Síndromes. ICO Ramón Pando Ferrer.2005- 2006.

    Directory of Open Access Journals (Sweden)

    María Elena Ríos Rodríguez

    2007-10-01

    Full Text Available Se realizó un estudio observacional, descriptivo, retrospectivo, en pacientes con síndromes asociados a ptosis palpebral en el ICO Ramón Pando Ferrer en el período comprendido entre enero 2005 y diciembre del 2006. Se estudiaron un total de 32 pacientes y 44 ojos. El 43.7% tenían entre 20 – 39 años. No hubo diferencias en la distribución por sexo, aunque con ligera inclinación hacia el sexo femenino. Más del 50% de las ptosis eran bilaterales. Según etiología predominaron las miogénicas para un 59.3%, y dentro de ellas las congénitas representadas por el síndrome de blefarofímosis (31.2%, y las adquiridas por la Miastenia Gravis (15.6%. Las ptosis neurogénicas constituyen un 34.3% representadas por la parálisis el III par y el síndrome de Marcus Gunn, para un 12.5% y 9.3% respectivamente. El 81.2% de los síndromes tuvieron posibilidades quirúrgicas. Al 66% del total de ojos se les realizó la suspensión al músculo frontal y al resto el reforzamiento de la aponeurosis y la Fasanella Servat Modificada en un 20.4% y 13.6% respectivamente. Los resultados se calificaron de buenos en el 54.5%, regulares en el 45.4% y ninguno tuvo malos resultados. Las complicaciones que se presentaron fueron mínimas representadas por la hipocorrección en el reforzamiento de la aponeurosis para un 44.4%. El 79.5% no presentaron complicaciones. Concluimos que muchos síndromes asociados a las ptosis palpebral pueden ser corregidos quirúrgicamente contribuyendo a mejorar la calidad de vida de estos pacientes.

  19. Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.

    Science.gov (United States)

    Verloes, Alain; Bremond-Gignac, Dominique; Isidor, Bertrand; David, Albert; Baumann, Clarisse; Leroy, Marie-Anne; Stevens, René; Gillerot, Yves; Héron, Delphine; Héron, Bénédicte; Benzacken, Brigitte; Lacombe, Didier; Brunner, Han; Bitoun, Pierre

    2006-06-15

    We report on 11 patients from 8 families with a blepharophimosis and mental retardation syndrome (BMRS) phenotype. Using current nosology, five sporadic patients have Ohdo syndrome, associated with congenital hypothyroidism in two of them (thus also compatible with a diagnosis of Young-Simpson syndrome). In two affected sibs with milder phenotype, compensated hypothyroidism was demonstrated. In another family, an affected boy was born to the unaffected sister of a previously reported patient. Finally, in the last sibship, two affected boys in addition had severe microcephaly and neurological anomalies. A definitive clinical and etiologic classification of BMRS is lacking, but closer phenotypic analysis should lead to a more useful appraisal of the BMRS phenotype. We suggest discontinuing the systematic use of the term "Ohdo syndrome" when referring to patients with BMRS. We propose a classification of BMRS into five groups: (1) del(3p) syndrome, (possibly overlooked in older reports); (2) BMRS, Ohdo type, limited to the original patients of Ohdo; (3) BMRS SBBYS (Say-Barber/Biesecker/Young-Simpson) type, with distinctive dysmorphic features and inconstant anomalies including heart defect, optic atrophy, deafness, hypoplastic teeth, cleft palate, joint limitations, and hypothyroidism. BMRS type SBBYS is probably an etiologically heterogeneous phenotype, as AD and apparently AR forms exist; (4) BMRS, MKB (Maat-Kievit-Brunner) type, with coarse, triangular face, which is probably sex-linked; (5) BMRS V (Verloes) type, a probable new type with severe microcephaly, hypsarrhythmia, adducted thumbs, cleft palate, and abnormal genitalia, which is likely autosomal recessive. Types MKB and V are newly described here. Copyright 2006 Wiley-Liss, Inc.

  20. X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

    DEFF Research Database (Denmark)

    Møller, R S; Jensen, L R; Maas, S M

    2014-01-01

    , hypogonadism and feeding difficulties. Female carriers are often phenotypically normal or show a similar but milder phenotype, as in most cases the X-chromosome harbouring the duplication is subject to inactivation. Xq28, which includes MECP2 is the major locus for submicroscopic X-chromosome duplications......, whereas duplications in Xq25 and Xq26 have been reported in only a few cases. Using genome-wide array platforms we identified overlapping interstitial Xq25q26 duplications ranging from 0.2 to 4.76 Mb in eight unrelated families with in total five affected males and seven affected females. All affected...... males shared a common phenotype with intrauterine- and postnatal growth retardation and feeding difficulties in childhood. Three had microcephaly and two out of five suffered from epilepsy. In addition, three males had a distinct facial appearance with congenital bilateral ptosis and large protruding...

  1. The Relationship of Amount of Resection and Time for Recovery of Bell’s Phenomenon after Levator Resection in Congenital Ptosis

    Science.gov (United States)

    Goel, Ruchi; Kishore, Divya; Nagpal, Smriti; Jain, Sparshi; Agarwal, Tushar

    2017-01-01

    Background: Recovery of Bell`s phenomenon after levator resection is unpredicatable. Delayed recovery can result in vision threatening corneal complications. Aim: To study the variability of Bell’s phenomenon and time taken for its recovery following levator resection for blepharoptosis and to correlate it with the amount of resection. Methods: A prospective observational study was conducted on 32 eyes of 32 patients diagnosed as unilateral simple congenital blepharoptosis who underwent levator resection at a tertiary care center between July 2013 and May 2015. Patients were followed up for 5 months and correction of ptosis, type of Bell`s, duration of Bell`s recovery and complications were noted. Results: The study group ranged from 16-25 years with 15:17 male: female ratio. There were 9 mild, 16 moderate and 7 severe ptosis. Satisfactory correction was achieved in all cases. Good Bell`s recovery occurred in 13 eyes on first post-op day, in 2-14 days in 19 eyes and 28 days in 1 eye. Inverse Bell`s was noted along with lid oedema and ecchymosis in 2 patients. Large resections (23-26mm) were associated with poor Bell`s on the first postoperative day (p=0.027, Fisher`s exact test). However, the duration required for recovery of Bell`s phenomenon did not show any significant difference with the amount of resection. (p=0.248, Mann Whitney test). Larger resections resulted in greater lagophthalmos (correlation=0.830, p<0.0001). Patients with recovery of Bell`s delayed for more than 7 days were associated with greater number of complications (p=0.001 Fisher`s Exact Test). Conclusion: Close monitoring for Bell`s recovery is required following levator resection. PMID:28584563

  2. [Preimplantation genetic diagnosis and monogenic inherited eye diseases].

    Science.gov (United States)

    Hlavatá, L; Ďuďáková, Ľ; Trková, M; Soldátová, I; Skalická, P; Kousal, B; Lišková, P

    Preimplantation genetic diagnosis (PGD) is an established application of genetic testing in the context of in vitro fertilization. PGD is an alternative method to prenatal diagnosis which aims to prevent the transmission of an inherited disorder to the progeny by implanting only embryos that do not carry genetic predisposition for a particular disease. The aim of this study is to provide an overview of eye disorders for which PGD has been carried out. The European literature search focused on best practices, ethical issues, risks and results of PGD for inherited eye disorders. PGD is performed for a number of ocular disorders; a prerequisite for its application is however, the knowledge of a disease-causing mutation(s). The main advantage of this method is that the couple is not exposed to a decision of whether or not to undergo an abortion. Qualified counselling must be provided prior to the PGD in order to completely understand the risk of disability in any child conceived, consequences of disease manifestation, and advantages as well as limitations of this method. In the group of non-syndromic eye diseases and diseases in which ocular findings dominate, PGD has been performed in European countries for aniridia, choroideremia, congenital fibrosis of extraocular muscles, Leber congenital amaurosis, ocular albinism, retinitis pigmentosa, X-linked retinoschisis, Stargardt disease, blepharophimosis-ptosis-inverse epicanthus syndrome and retinoblastoma. Sexing for X-linked or mitochondrial diseases has been carried out for blue cone monochromatism, choroideremia, familial exudative vitreoretinopathy, Leber hereditary optic neuropathy, macular dystrophy (not further specified), Norrie disease, X-linked congenital stationary night blindness, X-linked retinoschisis and nystagmus (not further specified). In recent years, there has been an increase in potential to use PGD. The spectrum of diseases for this method has widened to include severe inherited eye diseases

  3. Autologous inferior dermal sling (autoderm) with concomitant skin-envelope reduction mastectomy: an excellent surgical choice for women with macromastia and clinically significant ptosis.

    Science.gov (United States)

    Dietz, Jill; Lundgren, P; Veeramani, A; O'Rourke, C; Bernard, S; Djohan, R; Larson, J; Isakov, R; Yetman, R

    2012-10-01

    Skin-sparing mastectomy and prosthetic reconstruction can be complicated by poor surgical outcomes in large-breasted, obese women. This article describes a single surgeon's experience comparing conventional skin-sparing mastectomy (SSM) and skin-reduction mastectomy using an autologous vascularized inferior dermal/cutaneous sling (autoderm). From July 2007 to May 2012, patients undergoing skin-sparing mastectomy were evaluated for surgical outcomes. After July 2009, the surgeon performed skin-reduction mastectomies with autoderm (SRM-AD) on all patients with macromastia or grade 3-4 ptosis. Remaining patients in this time period (SSM-cont) underwent conventional skin-sparing mastectomies while all previous patients (historical) also underwent skin-sparing mastectomies (SSM-hist). A predictive model was used to compare the large historical patients (who would have had reduction mastectomy if available) with the smaller historical patients to evaluate the effect of the procedure. Body mass index (BMI) and specimen weight were higher in both the SRM group and large historical group. The hazard ratio for having skin-reduction mastectomy was 0.53 (P = 0.51) compared with the historical group. There was a total of 16 complications for the whole study. Smoking was the only significant risk factor. This study shows that mastectomy with prosthetic reconstruction using a skin-reduction technique with autoderm can be done safely with a low complication rate and improved cosmetic outcomes in the traditionally "at-risk" group of women with high BMI and large ptotic breasts.

  4. Third cranial nerve palsy (ptosis, diplopia accompanied by orbital swelling: case report of unusual clinical presentation of giant cell arteritis associated with polymyalgia rheumatica

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    Prassede Bravi

    2012-12-01

    Full Text Available IntroductionGiant cell arteritis (GCA is the most common systemic vasculitis in older individuals, characterized by granulomatosus inflammation of the wall of large and medium-sized arteries. The wide spectrum of arterial sites involved leads to ischemia of different organs resulting in a wide range of clinical signs and symptoms. Temporal artery is commonly involved (temporal arteritis. Unusual patterns of presentation, such as extraocular motility disorders and orbital swelling, may be early and transient manifestations of GCA and precede the permanent visual loss due to ischemic optic neuropathy.Case reportWe describe a patient with uncommon manifestations of GCA consisting of transient recurrent diplopia, ptosis, orbital swelling together with more typical clinical features of the disease such as musculoskeletal manifestations (polymyalgia rheumatica and facial pain: all signs and symptoms promptly resolved under corticosteroid therapy without relapse.Conclusions A high level of suspicion of GCA in individuals over the age of 50 years is needed to prevent the development of severe complications. Clinicians should be aware of uncommon manifestations of the disease such as head–neck swelling and ophthalmoplegia: management guidelines have stated that prompt administration of adequate dose of corticosteroids as soon as ocular manifestations of GCA are noted may almost totally prevent blindness.

  5. Diminuição da função do músculo levantador da pálpebra superior em pacientes submetidos à cirurgia de ptose palpebral involucional e dermatocálase Decrease of upper eyelid levator muscle function after involutional ptosis and dermatochalasis surgery

    Directory of Open Access Journals (Sweden)

    Eliana Forno

    2008-12-01

    Full Text Available OBJETIVO: Avaliar a diferença da função do músculo levantador da pálpebra superior (FMLPS, distância margem reflexo (DMR1 e altura do sulco palpebral (AS antes e depois da cirurgia de blefaroplastia superior associada à correção de ptose palpebral. MÉTODOS: Quarenta e quatro pacientes com blefaroptose e dermatocálase foram incluídos. Intervenção: exploração do tendão do músculo levantador da pálpebra superior (MLPS durante a blefaroplastia, em portadores de blefaroptose e dermatocálase. Nos casos de desinserção, o tendão foi refixado ao tarso. Desfechos analisados: foram analisados de forma bilateral a diferença entre FMLPS, DMR1 e AS antes e depois da intervenção. A dependência entre os olhos foi corrigida por meio de equações de estimativa generalizada. Foi utilizada a correlação de Pearson para quantificar a dependência entre os olhos para FMLPS, DMR1 e AS. RESULTADOS: Houve diferença significante entre as medidas de FMLPS antes e depois da cirurgia, havendo redução da excursão do MLPS após a cirurgia, diminuindo, em média, 1,1 mm (P0,01. CONCLUSÃO: A função do músculo levantador da pálpebra superior diminui após a cirurgia para a correção da ptose.PURPOSE: To evaluate the differences between upper eyelid levator muscle function (UELMF, margin reflex distance (MDR1, and eyelid crease height (ECH before and after ptosis and dermatochalasis surgery. METHODS: Forty-four patients with blepharoptosis and dermatochalasis were enrolled. Intervention: An exploration of the levator tendon (LT during a blepharoplasty procedure in patients with blepharoptosis and dermatochalasis and in case of its disinsertion, the tendon was reattached to the tarsus. Measured outcome: The differences between UELMF, MDR1, ECH before and after surgery were evaluated bilaterally. Dependency between both eyes was corrected by generalized estimating equations. Pearson correlation was used to evaluate the dependency of the two

  6. Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.

    Science.gov (United States)

    Kariminejad, Ariana; Ajeawung, Norbert Fonya; Bozorgmehr, Bita; Dionne-Laporte, Alexandre; Molidperee, Sirinart; Najafi, Kimia; Gibbs, Richard A; Lee, Brendan H; Hennekam, Raoul C; Campeau, Philippe M

    2017-04-01

    Kaufman oculo-cerebro-facial syndrome (KOS) is caused by recessive UBE3B mutations and presents with microcephaly, ocular abnormalities, distinctive facial morphology, low cholesterol levels and intellectual disability. We describe a child with microcephaly, brachycephaly, hearing loss, ptosis, blepharophimosis, hypertelorism, cleft palate, multiple renal cysts, absent nails, small or absent terminal phalanges, absent speech and intellectual disability. Syndromes that were initially considered include DOORS syndrome, Coffin-Siris syndrome and Dubowitz syndrome. Clinical investigations coupled with karyotype analysis, array-comparative genomic hybridization, exome and Sanger sequencing were performed to characterize the condition in this child. Sanger sequencing was negative for the DOORS syndrome gene TBC1D24 but exome sequencing identified a homozygous deletion in UBE3B (NM_183415:c.3139_3141del, p.1047_1047del) located within the terminal portion of the HECT domain. This finding coupled with the presence of characteristic features such as brachycephaly, ptosis, blepharophimosis, hypertelorism, short palpebral fissures, cleft palate and developmental delay allowed us to make a diagnosis of KOS. In conclusion, our findings highlight the importance of considering KOS as a differential diagnosis for patients under evaluation for DOORS syndrome and expand the phenotype of KOS to include small or absent terminal phalanges, nails, and the presence of hallux varus and multicystic dysplastic kidneys.

  7. "Ptosis" by Guadalupe Nettel and other stories about violence

    Directory of Open Access Journals (Sweden)

    Maricruz Castro Ricalde

    2017-07-01

    Full Text Available The vast amount of published narratives on the last decade in Mexico, linked to an unnerving social climate produced by drug trafficking and corruption, is highly noticeable. In response to these sociopolitical conditions, it seems to me that the stories that don´t approach violence directly should be questioned. Here I pose that oblique writing is a form of resisting the possibility that violence is being nurtured from language. In this article I focus on “Ptosis”, one of the short stories in Pétalos y otras historias incómodas (2008 by Guadalupe Nettel. Appealing to the theoretical approaches of Ariel Dorfman, Amartya Sen, Arjun Appadurai, Walter Benjamin, and Roland Barthes, and others, I aim to reflect on the nature of identities and their survival methods, in the midst of a violence social context.

  8. Additional case of Marden-Walker syndrome: support for the autosomal-recessive inheritance adn refinement of phenotype in a surviving patient.

    Science.gov (United States)

    Orrico, A; Galli, L; Zappella, M; Orsi, A; Hayek, G

    2001-02-01

    In this report, we present a 14-year-old girl, born to consanguineous parents, who presented with severe mental retardation, hypotonia, short stature, and congenital joint contractures. The craniofacial features were scaphocephaly, thin/long and immobile face, marked hypoplasia of the midface, temporal narrowness, blepharophimosis, palpebral ptosis, and strabismus. The combination of such a distinctive craniofacial appearance and psychomotor retardation allows us to recognize a new case of the Marden-Walker syndrome. Our patient represents one of the rare cases in which consanguineous mating supports the autosomal-recessive pattern of inheritance of this condition. Furthermore, through refining the phenotype of a surviving patient, this report may contribute to a better recognition of this disorder in older affected children.

  9. Síndrome de Noonan: Presentación de dos casos Noonan's syndrome: Presentation of two cases

    Directory of Open Access Journals (Sweden)

    Lucy Pons Castro

    2009-06-01

    Full Text Available Se presentan las características oftalmológicas y clínicas de dos pacientes hermanos (hembra y varón con diagnóstico del síndrome de Noonan. Este es un trastorno genético que produce desarrollo anormal de múltiples partes del cuerpo. Se caracteriza por una serie de signos y particularidades físicas que pueden variar ampliamente en rango y severidad según los casos. Generalmente se transmite como un rasgo genético autosómico dominante. Los casos que presentamos se caracterizan por: estenosis valvular pulmonar, hipertelorismo, retardo mental moderado, aspecto típico de la cara con filtrum (surco vertical en el centro del labio superior, párpados gruesos, epicanto, exoftalmos y ptosis palpebral.The ophthalmological and clinical characteristics of two sibling patients (male and female diagnosed with Noonan´s syndrome were presented in this paper. This is a genetic disorder that causes abnormal development of many parts of the body. It is characterized by a series of signs and physical peculiarities that may widely vary in range and severity from one case to another. Generally, it is transmitted as a dominant autosomal genetic trait. The two cases had the following features: pulmonary valve stenosis, hypertelorism, moderate mental retardation, typical aspect of the individual's face with filtrum (vertical sulcus located in the center of the upper lip, thick eyelids, epicanthus, exophthalmos and palpebral ptosis

  10. The efficacy of a novel mobile phone application for goldmann ptosis visual field interpretation.

    Science.gov (United States)

    Maamari, Robi N; D'Ambrosio, Michael V; Joseph, Jeffrey M; Tao, Jeremiah P

    2014-01-01

    To evaluate the efficacy of a novel mobile phone application that calculates superior visual field defects on Goldmann visual field charts. Experimental study in which the mobile phone application and 14 oculoplastic surgeons interpreted the superior visual field defect in 10 Goldmann charts. Percent error of the mobile phone application and the oculoplastic surgeons' estimates were calculated compared with computer software computation of the actual defects. Precision and time efficiency of the application were evaluated by processing the same Goldmann visual field chart 10 repeated times. The mobile phone application was associated with a mean percent error of 1.98% (95% confidence interval[CI], 0.87%-3.10%) in superior visual field defect calculation. The average mean percent error of the oculoplastic surgeons' visual estimates was 19.75% (95% CI, 14.39%-25.11%). Oculoplastic surgeons, on average, underestimated the defect in all 10 Goldmann charts. There was high interobserver variance among oculoplastic surgeons. The percent error of the 10 repeated measurements on a single chart was 0.93% (95% CI, 0.40%-1.46%). The average time to process 1 chart was 12.9 seconds (95% CI, 10.9-15.0 seconds). The mobile phone application was highly accurate, precise, and time-efficient in calculating the percent superior visual field defect using Goldmann charts. Oculoplastic surgeon visual interpretations were highly inaccurate, highly variable, and usually underestimated the field vision loss.

  11. Genetics Home Reference: Ohdo syndrome, Maat-Kievit-Brunner type

    Science.gov (United States)

    ... blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type BMRS, MKB type Ohdo syndrome, MKB type X-linked ... D, Brunner H, Bitoun P. Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so- ...

  12. SUMOylation of the Forkhead transcription factor FOXL2 promotes its stabilization/activation through transient recruitment to PML bodies.

    Directory of Open Access Journals (Sweden)

    Adrien Georges

    Full Text Available BACKGROUND: FOXL2 is a transcription factor essential for ovarian development and maintenance. It is mutated in the genetic condition called Blepharophimosis Ptosis Epicantus inversus Syndrome (BPES and in cases of isolated premature ovarian failure. We and others have previously shown that FOXL2 undergoes several post-translational modifications. METHODS AND PRINCIPAL FINDINGS: Here, using cells in culture, we show that interference with FOXL2 SUMOylation leads to a robust inhibition of its transactivation ability, which correlates with a decreased stability. Interestingly, FOXL2 SUMOylation promotes its transient recruitment to subnuclear structures that we demonstrate to be PML (Promyelocytic Leukemia Nuclear Bodies. Since PML bodies are known to be sites where post-translational modifications of nuclear factors take place, we used tandem mass spectrometry to identify new post-translational modifications of FOXL2. Specifically, we detected four phosphorylated, one sulfated and three acetylated sites. CONCLUSIONS: By analogy with other transcription factors, we propose that PML Nuclear Bodies might transiently recruit FOXL2 to the vicinity of locally concentrated enzymes that could be involved in the post-translational maturation of FOXL2. FOXL2 acetylation, sulfation, phosphorylation as well as other modifications yet to be discovered might alter the transactivation capacity of FOXL2 and/or its stability, thus modulating its global intracellular activity.

  13. Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement.

    Science.gov (United States)

    Pascolini, Giulia; Agolini, Emanuele; Majore, Silvia; Novelli, Antonio; Grammatico, Paola; Digilio, Maria Cristina

    2018-05-01

    A recent syndromic condition with craniofacial dysmorphisms, comprising congenital ocular defect and neurodevelopmental delay named Helsmoortel-Van der Aa Syndrome (HVDAS) (OMIM#615873), has been described and molecularly defined, identifying pathogenic mutations in the ADNP gene (OMIM#611386) as biological cause. We report on two children, displaying intellectual disability (ID) and peculiar congenital eyes anomalies, both carrying a de novo nonsense mutation in the ADNP gene. The review of present and literature reports, suggests that the diagnosis of HVDAS should be suspected in patients with ID accompanied by behavioral features in the Autism Spectrum Disorder and distinctive craniofacial phenotype. Among dysmorphisms due to malformation of the periorbital region, ptosis appears to be particularly recurrent in HVDAS. Furthermore, the present patients could support the inclusion of the HVDAS associated with specific mutations clustering within a small ADNP genomic region among clinical conditions reminiscent of the blepharophimosis/mental retardation syndromes (BMRS). Copyright © 2018 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  14. Mastopexia tridimensional con anclaje efectivo: Una respuesta a la ptosis, alteraciones de volumen, flacidez y recidiva en las mamoplastias 3D Mastopexy with a dependable anchoring site: A logical response to ptosis, volume alterations, flaccidity and relapse in mammaplasties

    Directory of Open Access Journals (Sweden)

    G. Peña Cabús

    2010-09-01

    Full Text Available La mastopexia es la técnica quirúrgica común que la Cirugía Plástica realiza en las mamas. En la literatura, se han expuesto múltiples y muy buenas técnicas sin terminar la búsqueda del elemento que sea consistente y que provea la mayor permanencia de resultados. De manera habitual, la atención se ha enfocado hacia la modificación anatómica del polo inferior, tratando de rellenar el polo superior de la mama de manera indirecta, con la confusión generalmente establecida de que, en la mayoría de las técnicas descritas, se considera el sostenimiento como sinónimo de suspensión. De manera descriptiva, exponemos una alternativa de suspensión que resulta tan interesante como sencilla, produciendo los resultados esperados a largo plazo y simplificando la técnica al reducir de manera importante la falta de mantenimiento del relleno del polo superior de la mama, el tiempo operatorio y facilitar la reconstrucción del molde mamario. La detección de un punto anatómico de fusión entre la fascia superficial, que es una continuación de la glándula mamaria y la propia fascia pectoral en la pared torácica, de importancia quirúrgica para el anclaje de la glándula mamaria, y el desarrollo de una técnica simple de suspensión glandular, logran cambiar los conceptos acostumbrados de nuestra práctica. La remodelación de la glándula se vuelve más sencilla y se autonomiza el manejo de la cubierta cutánea, permitiendo reducir la longitud final de las cicatrices.The elusive long term result in mastopexy, reveals the lack of an element that provides with certainty, an alternative that maintains the result surgically obtained. Although myriads of alternatives have been proposed in modern literature, most of them referred to lower pole anatomical molding as an indirect way to modify the upper pole as well, which is in fact the main target expectation for a good and sustained surgically outcome. There is a factor of confusion that has not been currently clarified; sustenance is not necessarily a synonym of suspension, being the latter our main objective that induced to present this technical proposal. The anatomical site of fusion of the superficial fascia which is in continuity with the mammary gland, and the proper pectoralis fascia, means that this structure can be used as a reinforced tissue that becomes as an anchoring site for the breast gland. An easily placement transglandular sutures stablishes the expected real suspension and the technical benefits derived from it, with the advantage of the use of non absorbable suture material that provides the occasion of change for a better good.

  15. DIEP Flap Breast Reconstruction in Patients with Breast Ptosis: 2-Stage Reconstruction Using 3-Dimensional Surface Imaging and a Printed Mold

    Directory of Open Access Journals (Sweden)

    Koichi Tomita, MD, PhD

    2017-10-01

    Conclusions:. The method described here may allow even inexperienced surgeons to achieve reconstruction of symmetrical, non-ptotic breasts with ease and in a short time. While the requirement of two surgeries is a potential disadvantage, our method will be particularly useful in cases involving TEs, i.e., delayed reconstruction or immediate reconstruction involving significant skin resection.

  16. Nablus mask-like facial syndrome

    DEFF Research Database (Denmark)

    Allanson, Judith; Smith, Amanda; Hare, Heather

    2012-01-01

    Nablus mask-like facial syndrome (NMLFS) has many distinctive phenotypic features, particularly tight glistening skin with reduced facial expression, blepharophimosis, telecanthus, bulky nasal tip, abnormal external ear architecture, upswept frontal hairline, and sparse eyebrows. Over the last few...

  17. Ocular, bulbar, limb, and cardiopulmonary involvement in oculopharyngeal muscular dystrophy

    DEFF Research Database (Denmark)

    Witting, N; Mensah, A; Køber, L

    2014-01-01

    ; 64 years (41-80) from 8 families. Ptosis was the first symptom in 8/13 patients followed by limb weakness in the remaining 5 patients Dysphagia was never the presenting symptom. At the time of examination, all affected patients had ptosis or had previously been operated for ptosis, while...... dysfunction, but no cardiac involvement, was detected....

  18. Achados oftalmológicos em 28 crianças portadoras da seqüência de Möebius Möebius sequence: clinical ophthalmological findings in 28 cases

    Directory of Open Access Journals (Sweden)

    Laura Patrícia Ferreira Santos

    2004-08-01

    Full Text Available OBJETIVO: Analisar os principais achados oftalmológicos encontrados em uma série de casos de seqüência de Möebius. MÉTODOS: Foram estudados 28 pacientes com o diagnóstico de seqüência de Möebius, atendidos em três centros oftalmológicos de referência do Estado de Pernambuco, Brasil. RESULTADOS: Foi observado: presença de epicanto em 25 pacientes (89,3%, blefaroptose em 14 (50,0%, ceratopatia de exposição em cinco (17,8% e alteração do reflexo de Bell em três (11,1%. A acuidade visual monocular variou de 0,03 a 1. Deficiência da acuidade visual esteve presente em 13 pacientes (46,4%. A ametropia mais encontrada foi o astigmatismo, diagnosticado em 33 olhos (58,9% do total de 56 examinados. Na posição primária do olhar, 16 pacientes (57,2% apresentaram esotropia, 2 (7,1% apresentaram exotropia e 7 (25,0% ortotropia. O exame de fundo de olho foi normal em 26 pacientes (92,8%. CONCLUSÃO: Foi observado que os pacientes portadores da seqüência de Möebius apresentavam alterações oftalmológicas importantes no que diz respeito à presença de deficiência da acuidade visual, desvio ocular, ceratopatia de exposição e ametropias. Sugere-se que esses pacientes sejam avaliados precocemente por um oftalmologista, visando o diagnóstico e tratamento adequado.PURPOSE: To evaluate the clinical ophthalmological findings in Möebius sequence patients. Methods: Twenty-eight Möebius sequence patients were studied at three ophthalmological centers in Pernambuco state, Brazil. RESULTS: Bilateral epicanthus was found in 25 patients (89.3%, ptosis in 14 (50.0%, corneal opacities from exposure in 5 (17.8% and diminished Bell's reflex in 3 (10.7%. Monocular visual acuity varied from 0.03 to 1. Visual acuity deficiency was detected in 13 patients (46.4%. The most frequent refractive error was astigmatism. It was observed in 33 eyes (58.9%. At the primary position, 16 patients (57.2% had esotropia, 2 (7.1% had exotropia and 7 (25.0% had

  19. The Classification and Prognosis of Periocular Complications Related to Blindness following Cosmetic Filler Injection.

    Science.gov (United States)

    Myung, Yujin; Yim, Sangjun; Jeong, Jae Hoon; Kim, Baek-Kyu; Heo, Chan-Yeong; Baek, Rong-Min; Pak, Chang-Sik

    2017-07-01

    Common side effects during hyaluronic acid filler injections are typically mild and reversible, but several reports of blindness have received attention. The present study focused on orbital symptoms combined with blindness, aiming to classify affected patients and predict their disease course and prognosis. From September of 2012 to August of 2015, nine patients with vision loss after filler injection were retrospectively reviewed. Ptosis, ophthalmoplegia, and enophthalmos were recorded over a 6-month follow-up, and patients were classified into four types according to periocular symptom manifestation. Two patients were categorized as type I (blindness without ptosis or ophthalmoplegia), two patients as type II (blindness and ptosis without ophthalmoplegia), two patients as type III (blindness and ophthalmoplegia without ptosis), and three patients as type IV (blindness with ptosis and ophthalmoplegia). The present study includes previously unpublished information about orbital symptom manifestations and prognosis combined with blindness caused by retinal artery occlusion after cosmetic filler injection. Therapeutic, V.

  20. Eyelid closure at death

    Directory of Open Access Journals (Sweden)

    A D Macleod

    2009-01-01

    Full Text Available Aim: To observe the incidence of full or partial eyelid closure at death. Materials and Methods: The presence of ptosis was recorded in 100 consecutive hospice patient deaths. Results: Majority (63% of the patients died with their eyes fully closed, however, 37% had bilateral ptosis at death, with incomplete eye closure. In this study, central nervous system tumor involvement and/or acute hepatic encephalopathy appeared to be pre-mortem risk factors of bilateral ptosis at death. Conclusion: Organicity and not psychogenicity is, therefore, the likely etiology of failure of full eyelid closure at death.

  1. Lipofilling and PRP for aesthetic facial rejuvenation : Understanding and augmenting the lipograft

    NARCIS (Netherlands)

    Willemsen, Joep Carlus Natasja

    2018-01-01

    Nieuwe inzichten in gezichtsveroudering maakten duidelijk dat niet alleen verzakking/ ptosis, maar ook verlies van gelaatsverlies een belangrijke factor is in dit proces. Klassieke gezichtsverjongingsprocedures die alleen weefsel optillen of herpositioneren in een verticale vector corrigeerden niet

  2. Absent abdominal muscles, nephro-urologic abnormalities, and ...

    African Journals Online (AJOL)

    Kamal F. Akl

    2014-12-23

    Dec 23, 2014 ... multiplex congenital, low set ears, short neck, micrognathia, bilateral total ptosis, and bilateral ... Imaging; voiding cystourethrogram revealed bilateral grade .... 9q22.3 microduplication spanning short stature syndrome with.

  3. A novel de novo mutation of the mitochondrial tRNAlys gene mt.8340G>a associated with pure myopathy

    DEFF Research Database (Denmark)

    Jeppesen, Tina Dysgaard; Duno, Morten; Risom, Lotte

    2014-01-01

    epithelial cells (mother, carried the mutation. She presented with exercise intolerance from age 9, and since age 20 she experienced ptosis and reduced ocular motility. A muscle biopsy revealed ragged red fibres (10%), no COX negative fibres, and many fibres...

  4. Case report

    African Journals Online (AJOL)

    abp

    14 avr. 2016 ... Abstract. Le syndrome de Marcus Gunn est un syndrome qui associe un ptosis congénital et une syncinésie mandibulo-palpébrale lors de certains mouvements mandibulaires. Nous rapportons le cas d'un enfant de quatre ans et demi qui présente un ptosis de la paupière gauche qui disparait.

  5. Extrusion of hydrogel exoplant into upper eyelid 16 years after a scleral buckle procedure

    Directory of Open Access Journals (Sweden)

    Chirag P Shah

    2011-01-01

    Full Text Available Sixteen years after scleral buckle surgery with a hydrogel episcleral exoplant, a 43-year-old woman presented with progressive binocular diplopia, ptosis, and an expanding mass in her upper eyelid. She underwent surgical removal of the hydrogel exoplant through an anterior approach. The exoplant proved to be friable, fragmented, and encapsulated in a fibrous tissue; the exoplant was removed in its entirety. Postoperatively, the eyelid mass resolved, while her diplopia and ptosis improved slightly.

  6. Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations

    Directory of Open Access Journals (Sweden)

    Manisha Goyal

    2016-01-01

    Full Text Available Stickler syndrome or hereditary progressive arthroophthalmopathy is a heterogeneous group of collagen tissue disorders, characterized by orofacial features, ophthalmological features (high myopia, vitreoretinal degeneration, retinal detachment, and presenile cataracts, hearing impairment, mild spondyloepiphyseal dysplasia, and/or early onset arthritis. Stickler syndrome type I (ocular form is caused by mutation in the COL2A1 gene. Ptosis and uveitis are relatively rare ophthalmological manifestations of this syndrome. We report an Indian boy having 2710C>T mutation in COL2A1 gene demonstrating short stature, ptosis, and uveitis with Stickler syndrome.

  7. Case report

    African Journals Online (AJOL)

    abp

    21 sept. 2017 ... XA avait aux deux yeux, une AV à 8/10 et XB, une AV de 3/10 améliorée au trou sténopéïque à 7/10 en faveur d'une amétropie. XA présentait un ptosis bilatéral qui remontait à l'âge de 2 ans avec une action du releveur de la paupière supérieure (RPS) à 7 mm et XB, un ptosis bilatéral remontant à l'âge de ...

  8. Facebook: can it be a diagnostic tool for neurologists?

    Science.gov (United States)

    Mittal, Manoj K; Sloan, Jeff A; Rabinstein, Alejandro A

    2012-01-01

    A 56-year-old woman presented with acute ischaemic stroke with NIHSS 13. She had right eye ptosis and miosis. She and her husband were not sure if her facial features were different than usual. With her consent, we compared her face with her pictures on Facebook. In the absence of any ptosis or miosis in her pictures, she was diagnosed with acute Horner syndrome. Facebook may be a useful tool for the neurologists to define the timing of facial neurological signs. PMID:22914235

  9. Camptodactyly: A Phenotype of Dupuytren′s Contracture

    Directory of Open Access Journals (Sweden)

    Kamleader Singh

    1985-01-01

    Full Text Available A 15 year old boy had permanent flexion contractures at proximal interphalangeal joints of the little and ring fingers of both hands, along with slight hemiatrophy of face and bilateral mild ptosis. The hand deformity superficially resembled. Dupuytren′s contacture. This combination of features does not fit with the syndromes described so far, whose one of, the components is camptodactyly.

  10. Deletion of short arm of chromosome 18, Del(18p syndrome

    Directory of Open Access Journals (Sweden)

    Prashant Babaji

    2014-01-01

    Full Text Available Deletion of the short arm of chromosome 18 is a rare syndrome clinically presenting with variable mental retardation, growth retardation, low height, pectus excavatum, craniofacial malformations including long ear, ptosis, microcephaly and short neck. This case report presents with characteristic features along with rare feature of single nostril.

  11. [External progressive ophthalmoplegia secondary to mitochondrial myopathy. Report of a case and review of the literature].

    Science.gov (United States)

    Calderón-Garcidueñas, A L; Pérez-Loria, O; Alberto-Sagástegui, J; Farías-García, R

    2000-01-01

    Progressive limitation of occular motility, accompanied by ptosis but usually without diplopia, occurs in many pathologic states, including mitochondrial diseases. A case with chronic progressive external ophthalmoplegia with onset during childhood, associated with proximal myopathy and dysphasia is presented. The muscle biopsy showed a myopathic pattern and abnormal subsarcolemmal mitochondrial deposits. Muscle biopsy for important in the correct diagnosis of this entity.

  12. Congenital myasthenic syndromes in two kinships with end-plate acetylcholine receptor and utrophin deficiency

    DEFF Research Database (Denmark)

    Sieb, J P; Dörfler, P; Tzartos, S

    1998-01-01

    We studied two families with five affected members suffering from ptosis and slowly progressive limb-girdle muscle weakness. All patients had abnormal decremental response on low-frequency nerve stimulation, but there were no repetitive responses to single stimuli. The patients improved on anti-a...

  13. Botulisme hos spaedbørn

    DEFF Research Database (Denmark)

    Hoffmann, Thomas; Mølbak, Kåre; Paerregaard, Anders

    2010-01-01

    of voluntary muscles. Presenting symptoms include constipation, lethargy, mydriasis and ptosis. The diagnosis is made on the basis of clinical examination and confirmed by isolating the toxin in serum or stools. Treatment consists of supportive intensive care and treatment with antitoxins....

  14. Baraitser–Winter syndrome: An additional Egyptian patient with ...

    African Journals Online (AJOL)

    Rabah M. Shawky

    2015-05-08

    May 8, 2015 ... Abstract We report a 3.5 year old male child, second in order of birth of non consanguineous ... in this syndrome, bilateral congenital ptosis, hypertelorism, moderate mental .... ged from 2 month to 14 years and it may be intractable in some ... retardation: Baraitser–Winter syndrome or Noonan syndrome? J.

  15. Retrobulbar versus subconjunctival anesthesia for cataract surgery ...

    African Journals Online (AJOL)

    Objectives: To compare the effectiveness, in terms of pain relief and akinesia of retrobulbar and subconjunctival an aesthesia during cataract surgery and also to compare the degree of postoperative ptosis associated with each technique. Materials and Methods: Consecutive adult patients undergoing cataract surgery ...

  16. Management of bilateral orbital cellulitis in a 41-year-old man ...

    African Journals Online (AJOL)

    We report a case of a bilateral disease in a healthy middle-aged man who presented with fevers, diminished vision, eye pains, lid swellings, severe ptosis, axial proptosis and ophthalmoplegia in both eyes. Our impression was that of Class 5 orbital cellulitis according to Chandler's classifi cation. His laboratory investigations ...

  17. Baraitser–Winter syndrome: An additional Egyptian patient with ...

    African Journals Online (AJOL)

    We report a 3.5 year old male child, second in order of birth of non consanguineous Egyptian parents with Baraitser–Winter syndrome (BRWS). The patient had bilateral colobomas of the iris and choroid. Our patient had also retinal hypoplasia, which was not reported previously in this syndrome, bilateral congenital ptosis, ...

  18. Case Report: Bilateral iris, choroid, optic nerve colobomas and ...

    African Journals Online (AJOL)

    Background: Baraitser–Winter syndrome (BRWS) is a malformation syndrome, characterized by facial dysmorphism, ocular colobomata, pachygyria, and intellectual defects. Case report: A 3.5 year old female child with BRWS has bilateral congenital ptosis, microcornea, iris, choroid, and optic nerve coloboma, retinal ...

  19. Congenital Double Elevator Palsy with Sensory Exotropia: A Unique Surgical Management.

    Science.gov (United States)

    Nagpal, R C; Raj, Anuradha; Maitreya, Amit

    2017-01-01

    To report a unique surgical approach for congenital double elevator palsy with sensory exotropia. A 7-year-old boy with congenital double elevator palsy and sensory exotropia was managed surgically by Callahan's procedure with recession and resection of the horizontal recti for exotropia without inferior rectus recession, followed by frontalis sling surgery for congenital ptosis. Favourable surgical outcome was achieved without any complication.

  20. The Use of Poly-4-Hydroxybutyrate (P4HB) Scaffold in the Ptotic Breast: A Multicenter Clinical Study.

    Science.gov (United States)

    Adams, William P; Baxter, Richard; Glicksman, Caroline; Mast, Bruce A; Tantillo, Michael; Van Natta, Bruce W

    2018-04-06

    Mastopexy and reduction mammaplasty are often limited by the patient's poor native soft tissue quality, resulting in ptosis recurrence and loss of rejuvenated surgical results. Surgical scaffolds and acellular dermal matrices are used in these procedures to provide physical and mechanical stabilization of weakened or compromised tissue. GalaFLEX scaffold, made from poly-4-hydroxybutyrate (P4HB), is a next-generation product for soft tissue reinforcement that resorbs gradually while aiding tissue regeneration to achieve excellent outcomes. To assess the clinical performance of GalaFLEX scaffold in soft tissue reinforcement during elective mastopexy and reduction mammaplasty. This multicenter, single-arm, observational study assessed product performance and outcomes of GalaFLEX scaffold when used in breast surgery. Outcomes included ptosis correction and maintenance, associated adverse events, patient and surgeon satisfaction, and mammographic and ultrasound imaging evaluation. At 6 centers in the US, 62 of 69 enrolled patients were treated. Of this population, 89.7% had successful ptosis correction and maintenance at 1 year, with high patient and surgeon satisfaction for breast shape, droop/sag of the breast, and maintenance of results at 1 year. There were 5 adverse events deemed related to the device (8.0%), including nerve pain, breast swelling, ptosis, and 2 instances of asymmetry. GalaFLEX scaffold safely and successfully supports and elevates breast tissue in mastopexy and reduction mammaplasty, with maintained support at 1 year. Surgeon and patient satisfaction were high. No mammogram or ultrasound interference was detected.

  1. The Effects of Explicit Instruction on the Writing Ability of a Student with Noonan Syndrome

    Science.gov (United States)

    Asaro-Saddler, Kristie; Saddler, Bruce; Ellis-Robinson, Tammy

    2014-01-01

    In this study, we sought to determine the effectiveness of a sentence creation intervention on the sentence writing ability of a young writer with Noonan Syndrome. Noonan syndrome is an autosomal dominant condition characterized by shortness in stature, with neck and ear anomalies, hypertelorism, ptosis of the eyelids, low set ears, and instances…

  2. 11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report

    DEFF Research Database (Denmark)

    Almind, Gitte J; Brøndum-Nielsen, Karen; Bangsgaard, Regitze

    2009-01-01

    , bilateral ptosis, genital abnormalities, seizures and a dysmorphic face. Cytogenetic analysis showed a deletion on 11p that was further characterized using FISH and MLPA analyses. The deletion (11p13-p12) located in the area between the deletions associated with the WAGR and Potocki-Shaffer syndromes had...

  3. Neurologiske selvportrætter?

    DEFF Research Database (Denmark)

    Stenager, Egon

    2017-01-01

    Ruth Smith (1913-1958) is one of the most important modern Faroese painters with a large oeuvre of self-portraits, in which she illustrates the progression of her late-onset, undiagnosed visual symptoms. These symptoms include diplopia, anisochoria, ptosis, changed color vision and acuity...

  4. The Anti-Acetylcholine Receptor Antibody Test in Suspected Ocular Myasthenia Gravis

    Directory of Open Access Journals (Sweden)

    Jung Jin Lee

    2014-01-01

    Full Text Available Aim. To estimate the clinical significance of anti-acetylcholine receptor antibody (anti-AChR-Ab levels in suspected ocular myasthenia gravis. Methods. In total, 144 patients complaining of fluctuating diplopia and ptosis were evaluated for serum levels of anti-acetylcholine receptor antibody and their medical charts were retrospectively reviewed. Subjects were classified into three groups: variable diplopia only, ptosis only, and both variable diplopia and ptosis. We investigated serum anti-AChR-Ab titer levels and performed thyroid autoantibody tests. Results. Patients’ chief complaints were diplopia (N=103, ptosis (N=12, and their concurrence (N=29. Abnormal anti-AChR-Ab was observed in 21 of 144 patients (14.1%. Between the three groups, mean age, number of seropositive patients, and mean anti-AChR-Ab level were not significantly different (P=0.224, 0.073, and 0.062, resp.. Overall, 27.5% of patients had abnormal thyroid autoantibodies. Conclusion. The sensitivity of anti-AChR-Ab was 14.1% in suspected ocular myasthenia gravis and seropositivity in myasthenia gravis patients showed a high correlation with the presence of thyroid autoantibodies.

  5. Breast carcinoma metastasis to the lacrimal gland

    DEFF Research Database (Denmark)

    Nickelsen, Marie N.; Von Holstein, Sarah; Hansen, Alastair B.

    2015-01-01

    A 77-year-old female, with proptosis, reduced eye motility and diplopia which had developed over two to three months and a 69-year-old female with proptosis, oedema of the eyelid, reduced motility and ptosis, which had developed over three weeks, are presented in the present study. Computed...

  6. An Update on Tumors of the Lacrimal Gland

    DEFF Research Database (Denmark)

    Andreasen, Simon; Esmaeli, Bita; Holstein, Sarah Linéa von

    2017-01-01

    are a growing mass at the site of the lacrimal gland, including displacement of the eyeball, decreased motility, diplopia, and ptosis. Pain is the cardinal symptom of an adenoid cystic carcinoma. Radiological findings characteristically include an oval, well-demarcated mass for benign lesions whereas malignant...

  7. Nipple Sparing Mastectomy: Does Breast Morphological Factor Related to Necrotic Complications?

    Directory of Open Access Journals (Sweden)

    Prakasit Chirappapha, MD

    2014-01-01

    Conclusions: Large glandular specimen increases the risk of NAC necrosis. The degree of ptosis and the distance between the sternal notch and the NAC have no significant impact on necrotic complications in NSM. To reduce the necrotic complications in large breast after NSM, reconstruction should better be performed with autologous flap or slow skin expansion using the expander technique.

  8. Mastopexia de aumento, técnica de quinta generación Augmentation mastopexy, fifth generation technique

    Directory of Open Access Journals (Sweden)

    R. Navarro

    2008-06-01

    Full Text Available Presentamos una nueva técnica de mastopexia, más sencilla, que evita recidivas además de disminuir el riesgo de carcinoma mamario. El estudio se realiza sobre 25 pacientes femeninas de 25 a 50 años de edad, con ptosis mamaria. Con las pacientes de pie realizó el marcaje tradicional; si las mamas son pequeñas se colocan implantes en el plano submuscular, y si son grandes, en retroglandular. Para evitar recidivas se colocaron dos tirantes internos con suturas irreabsorbibles. Si el complejo resultante glándula-implante es grande y pesado, se fija un tirante de mama al periostio hemiclavicular y otro al periostio de la tercera costilla; si es pequeño o mediano, únicamente se fija a la costilla. Realizamos controles entre 1 mes y 3 años tras la intervención. Conseguimos corregir ptosis de entre 5 a 12cm., sin recidiva en ninguno de los controles, ni pseudo-ptosis postoperatoria. El ejercicio físico fue posible a los 15 días de la cirugía con el apoyo de un sujetador elástico. La cicatrización fue altamente satisfactoria. Las únicas complicaciones presentadas fueron dehiscencias parciales en 2 pacientes y sensación de ardor, tirantez y elongación de la areola en pacientes cuya ptosis excedía los 12cm y con areolas grandes. La facilidad de ejecución de la técnica y su seguridad, permiten que la cirugía sea ambulatoria. Proponemos esta técnica, que denominamos de quinta generación, que evita la cicatriz periareolar, la inframamaria, la vertical y la "T" invertida; además, elimina parte de ambos cuadrantes superiores de la mama, lo que disminuye notablemente la posibilidad de desarrollar ulteriores casos de carcinoma mamario y evita recidivas con el uso del tirante clavicular.We present a new mastopexy technique, simpler, which precludes the recidivism and reduces the risk of breast cancer. The study was based on 25 female patients between 25 to 50 years old with breast ptosis. With the patients standing up, was realized the

  9. Superior orbital fissure syndrome in herpes zoster ophthalmicus.

    LENUS (Irish Health Repository)

    Kirwan, R P

    2012-02-01

    AIM: To report a case of superior orbital fissure syndrome (SOFS) in a patient with herpes zoster ophthalmicus (HZO). MATERIALS AND METHODS: A case report. RESULTS: A 71-year-old male with HZO presented acutely to accident and emergency complaining of right vision loss, double vision and drowsiness. The right visual acuity was counting fingers. There was no relative afferent pupillary defect. He had interstitial keratitis, ptosis, proptosis and total ophthalmoplaegia. The signs indicated HZO complicated by SOFS. Brain imaging and lumbar puncture confirmed the diagnosis of varicella zoster encephalitis. Systemic acyclovir and prednisolone led to recovery of visual acuity and ocular motility in addition to resolution of his proptosis and ptosis. CONCLUSION: SOFS is a rare complication of herpes zoster infection. With the appropriate treatment and follow-up, patients may be reassured that recovery of their visual acuity and ocular motility will occur.

  10. Endogenous endophthalmitis and Horner’s syndrome secondary to brain abscess in HIV patient

    Directory of Open Access Journals (Sweden)

    Ali Raghibi

    2011-09-01

    Full Text Available A 39-year-old Malay gentleman was presented with sudden onset of blurring of vision, associated with pain, redness and partial ptosis in the left eye (LE for 2 weeks. It was also associated with headache and drowsiness that were progressively worsened. On examination, the vision was hand movement LE. There was partial upper lid ptosis with injected conjunctiva and mild anterior chamber reaction. The view of the posterior segment was hazy on LE. The right eye was essentially normal. On investigation, B-scan ultrasound was suggestive of LE vitreous opacity. CT scan and MRI of the orbit and brain showed multiple enhancing brain lesions. Toxoplasma IgG, anti-HCV and anti-HIV were reactive and the patient was treated with toxoplasma infection.

  11. Unusual case of persistent Horner′s syndrome following epidural anaesthesia and caesarean section

    Directory of Open Access Journals (Sweden)

    Shubhra Goel

    2011-01-01

    Full Text Available This is a rare case of persistent Horner′s syndrome following epidural anesthesia and Caesarean section. A 33-year-old female presented with persistent ptosis and miosis following epidural anesthesia and Caesarian section several months prior. Magnetic resonance imaging (MRI/magnetic resonance angiography (MRA of head, neck, and chest were unremarkable. Medline search using terms Horner′s, epidural, spinal anesthesia, delivery, childbirth, Caesarian, and pregnancy identified 31 articles describing Horner′s syndrome in obstetric epidural anesthesia, of which 11 were following Caesarean section. The increased incidence of Horner′s syndrome in the setting of epidural anesthesia in pregnancy may be related to epidural venous engorgement and cephalic spread of the local anaesthetic, with disruption in the oculosympathetic pathway. It is important to include recent epidural anesthesia within the differential diagnosis of acute Horner′s syndrome in a postpartum female. Rarely, the ptosis may be permanent and require surgical intervention.

  12. Prosthetic

    Directory of Open Access Journals (Sweden)

    Pokpong Amornvit

    2014-01-01

    Full Text Available Ocular trauma can be caused by road traffic accidents, falls, assaults, or work-related accidents. Enucleation is often indicated after ocular injury or for the treatment of intraocular tumors, severe ocular infections, and painful blind eyes. Rehabilitation of an enucleated socket without an intraocular implant or with an inappropriately sized implant can result in superior sulcus deepening, enophthalmos, ptosis, ectropion, and lower lid laxity, which are collectively known as post-enucleation socket syndrome. This clinical report describes the rehabilitation of post-enucleation socket syndrome with a modified ocular prosthesis. Modifications to the ocular prosthesis were performed to correct the ptosis, superior sulcus deepening, and enophthalmos. The rehabilitation procedure produced satisfactory results.

  13. [Steinert myotonic dystrophy and blepharoptosis surgery: 9 case reports].

    Science.gov (United States)

    Karim, A; Schapiro, D; Morax, S

    2003-01-01

    Steinert myopathic dystrophy is a generalized, hereditary disease with bone, muscular, heart and ocular involvement. This is a retrospective study of nine patients with significant blepharoptosis due to Steinert disease, who were treated at the Adolphe de Rothschild Ophthalmology Foundation over a period of 5 years. Ptosis was symmetric and major in all cases with poor levator excursion. Severity criteria were an absence of the Bell phenomenon and diminished orbicularis tone. A frontalis suspension was performed in eight cases with intentional undercorrection. The outcome was favorable in all cases, 2 with a slight overcorrection underwent a second operation conclusion: Surgical treatment of ptosis in Steinert disease is difficult because of a risk of lagophthalmic, keratopathy due to the severity of the disease, an absence of the Bell phenomenon and ophthalmoplegia. This surgery must be undertaken with caution, most often using a frontalis suspension. Undercorrection must be systematic, with the single goal of freeing the pupil in the primary position.

  14. 46,XY hypergonadotropic hypogonadism and myasthenia gravis.

    Science.gov (United States)

    Lichiardopol, Corina; Herlea, V; Ioan, Virginia; Tomulescu, V; Mixich, F

    2006-01-01

    Both hypergonadotropic hypogonadism and myasthenia gravis can be parts of type II autoimmune polyendocrine syndrome and association between the two disorders has been reported in few cases. A 14 year old male patient with a personal history of bilateral cryptorchidism and ptosis was referred for delayed puberty. Clinical examination revealed eunuchoid habitus, small, soft testes, gynecomastia, ptosis, a myasthenic deficit score of 22.5 points and an IQ of 84 points. Decreased testosterone (0.064 ng/mL) and elevated LH (64.5 mUI/mL) were consistent with hypergonadotropic hypogonadism and karyotype was normal: 46,XY. Thyroid function, haematologic evaluation, BUN, electrolytes, and glycemia were in the normal range. Therapy consisted of anticholinesterase inhibitors, immunosuppressants, corticotherapy, testosterone; thoracoscopic thymectomy was performed showing thymic lymphoid hyperplasia on histopathologic examination. Myasthenic score improved (12.5 points), progressive virilization occurred, and a year later the patient presented with cushingoid features and obesity.

  15. The Effect of Acupuncture on Blepharoptosis and Diplopia in Ocular Myasthenia Gravis: A Report of Three Cases

    Directory of Open Access Journals (Sweden)

    Mohammad Etezad Razavi

    2015-07-01

    Full Text Available Introduction: The aim of this study was to evaluate the efficacy of acupuncture therapy on relieving ocular symptoms in resistant Ocular Myasthenia Gravis (OMG. Case: In this pilot study, three patients with OMG were offered ten sessions of acupuncture therapy, twice weekly, while they received their routine medical treatment. Their symptoms included ptosis and diplopia. Subjective impression of changes was assessed based on Ocular-quantitative Myasthenia Gravis (QMG scoring before and after treatment sessions. Conclusion:All three patients enrolled in this study showed resolution of diplopia. Their subjective impression of symptoms was improved. However, the score of ptosis did not improve considerably. Acupuncture is another choice for reducing ocular symptoms besides conventional treatment in resistant Ocular Myasthenia Gravis (OMG. However, future randomized controlled trial studies are needed to approve this issue.

  16. [What would you do in front of a patient with a Horner syndrome?

    Science.gov (United States)

    Camós-Carreras, A; Fontana, S; Ortiz-Pérez, S

    2018-03-01

    Horner's syndrome (HS) occurs when there is disruption to the oculosympathetic pathway. Its features include eyelid ptosis, miosis and anhidrosis. The aetiology of this syndrome is varied and includes tumours, trauma, vascular disease and iatrogenic. Different pharmacologic tests are used for diagnosis, such as cocaine, hydroxyamphetamine and apraclonidine; while neuroimaging helps elucidating the aetiology. We present a case of a 63-year-old female referred to our service with a 4-month history of right eyelid ptosis. During examination right miosis was noted. The patient reported a history of multinodular goiter. Pharmacologic tests and neuroimaging confirmed the diagnosis of HS secondary to thyroid disease. Copyright © 2016 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España, S.L.U. All rights reserved.

  17. Recurrent painful ophthalmoplegic neuropathy; A case report

    OpenAIRE

    Semra Saygi; Tulun Savas; ilknur Erol

    2014-01-01

    Recurrent painful ophthalmoplegic neuropathy, typically seen as a serious childhood migraine attack which is followed by ptosis and diplopia due to oculomotor nerve palsy. This is regarded as a form of migraine in the previous classifications but according to the latest classification of the International Headache Society has been recognized as cranial neuralgia. Due to the poor pathological and radiological findings of oculomotor nerve during attack, it is difficult to make differential diag...

  18. Aplicaciones del Gore-tex en Oftalmología

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    María Cáceres Toledo

    Full Text Available Objetivo: evaluar los resultados terapéuticos en la corrección quirúrgica de afecciones oculares, con el uso del Gore-tex y con la modificación realizada a la técnica quirúrgica convencional de la suspensión al frontal. Métodos: se realizó un estudio descriptivo prospectivo en una serie de 16 casos: 7 con ptosis, 5 con estrabismo y 4 con retracción palpebral inferior. Para la corrección de la retracción y la ptosis se utilizaron fragmentos del referido material y una sutura de Gore-tex en la corrección del estrabismo y en algunos casos con ptosis. Se colocaron 2 mm de Gore-tex por cada milímetro de retracción y de ptosis palpebral. Se corrigieron 2 dioptrías prismáticas por cada milímetro de retroinserción del músculo afectado. Resultados: fueron satisfactorios en un total de 13 casos (87 %. La mayoría de los pacientes operados con la modificación realizada a la técnica de la suspensión al frontal disminuyeron los mm de caída hasta el nivel fisiológico palpebral. Conclusiones: los resultados son satisfactorios en la mayoría de los casos operados con el uso del Gore-tex y con la técnica de suspensión al frontal modificada.

  19. Early onset and severe clinical course associated with the m.5540G>A mutation in MT-TW

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    Jorge L. Granadillo

    2014-01-01

    Full Text Available We report a patient harboring a de novo m.5540G>A mutation affecting the MT-TW gene coding for the mitochondrial tryptophan-transfer RNA. This patient presented with atonic–myoclonic epilepsy, bilateral sensorineural hearing loss, ataxia, motor regression, ptosis, and pigmentary retinopathy. Our proband had an earlier onset and more severe phenotype than the first reported patient harboring the same mutation. We discuss her clinical presentation and compare it with the only previously published case.

  20. Imaging of Horner's syndrome

    Energy Technology Data Exchange (ETDEWEB)

    George, A.; Haydar, A.A. [Derriford Hospital Plymouth, Derriford, Plymouth (United Kingdom); Adams, W.M. [Derriford Hospital Plymouth, Derriford, Plymouth (United Kingdom)], E-mail: william.adams@phnt.swest.nhs.uk

    2008-05-15

    Horner's syndrome, or oculosympathetic paresis, results from interruption of the sympathetic trunk innervation to the eye and presents typically with meiosis, ptosis and facial anhydrosis on the affected side.{sup 1} The pathological process ranges from benign, such as cluster headache, or life threatening, such as lung malignancy. Appropriate imaging requires an anatomical appreciation of the complex and circuitous route the neuronal pathway takes as it passes from the central nervous system to the eye.

  1. Imaging of Horner's syndrome

    International Nuclear Information System (INIS)

    George, A.; Haydar, A.A.; Adams, W.M.

    2008-01-01

    Horner's syndrome, or oculosympathetic paresis, results from interruption of the sympathetic trunk innervation to the eye and presents typically with meiosis, ptosis and facial anhydrosis on the affected side. 1 The pathological process ranges from benign, such as cluster headache, or life threatening, such as lung malignancy. Appropriate imaging requires an anatomical appreciation of the complex and circuitous route the neuronal pathway takes as it passes from the central nervous system to the eye

  2. Case report

    African Journals Online (AJOL)

    abp

    18 févr. 2013 ... un rétrécissement des loges orbitaires à l'origine d'un proptosis et parfois un exorbitisme, une exophtalmie, un hypertélorisme, un ptosis, un nez mince ... une communication interventriculaire, une sténose aortique, une atrésie des choanes et de l'oesophage, une fistule trachéo-oesophagienne, une fistule ...

  3. Horner syndrome: clinical perspectives

    Science.gov (United States)

    Kanagalingam, Sivashakthi; Miller, Neil R

    2015-01-01

    Horner syndrome consists of unilateral ptosis, an ipsilateral miotic but normally reactive pupil, and in some cases, ipsilateral facial anhidrosis, all resulting from damage to the ipsilateral oculosympathetic pathway. Herein, we review the clinical signs and symptoms that can aid in the diagnosis and localization of a Horner syndrome as well as the causes of the condition. We emphasize that pharmacologic testing can confirm its presence and direct further testing and management. PMID:28539793

  4. Pituitary apoplexy presenting as myocardial infarction

    Directory of Open Access Journals (Sweden)

    Vishal Gupta

    2014-01-01

    Full Text Available We describe a male patient who presented with sudden onset severe headache and right sided ptosis that was diagnosed to be secondary to pituitary apoplexy on the background of diabetes mellitus. This was complicated by left ventricular failure and acute coronary syndrome. The case highlights the importance of considering hypocortisolism/hypopituitarism as an important and rare precipitant of an acute coronary event as occurred in the case.

  5. Cluster headache

    OpenAIRE

    Leroux, Elizabeth; Ducros, Anne

    2008-01-01

    Abstract Cluster headache (CH) is a primary headache disease characterized by recurrent short-lasting attacks (15 to 180 minutes) of excruciating unilateral periorbital pain accompanied by ipsilateral autonomic signs (lacrimation, nasal congestion, ptosis, miosis, lid edema, redness of the eye). It affects young adults, predominantly males. Prevalence is estimated at 0.5–1.0/1,000. CH has a circannual and circadian periodicity, attacks being clustered (hence the name) in bouts that can occur ...

  6. Anteriorization of the Normally Acting Inferior Oblique Muscles to Treat Dissociated Vertical Deviation Associated With Juvenile Glaucoma.

    Science.gov (United States)

    Kassem, Rehab Rashad

    2017-10-09

    A case of dissociated vertical deviation, ptosis, and juvenile glaucoma is described. J deformity anteriorization of the normally acting inferior oblique muscles was chosen to preserve the superior fornix for glaucoma surgeries by avoiding superior rectus recession and to prevent narrowing of the palpebral fissure by avoiding an inferior rectus tuck. [J Pediatr Ophthalmol Strabismus. 2017;54:e63-e66.]. Copyright 2017, SLACK Incorporated.

  7. Ophthalmople gic cranial neuropathy: clinical case

    OpenAIRE

    N. S. Dozorova; A. S. Kotov; E. V. Mukhina

    2018-01-01

    Ophthalmoplegic cranial neuropathy (OCN) is a disease with unknown etiology, which manifests itself by episodes of intense headache, accompanied by completely or partially reversible dysfunction of the oculomotor nerve: ptosis, mydriasis and ophthalmoplegia. It is assumed that the pathology is demyelinating in nature, therefore in the International classification of headaches OCN excluded from rubric migraine and related to the painful cranial neuropathies. The question of the prevention and ...

  8. Influence of atipamezole on effects of midsacral subarachnoidally administered detomidine in mares.

    Science.gov (United States)

    Skarda, R T; Muir, W W

    1998-04-01

    To examine effects of atipamezole on detomidine midsacral subarachnoidally-induced analgesia, cardiovascular and respiratory activity, head ptosis, and position of pelvic limbs in healthy mares. 10 healthy mares. Using a randomized, blinded, crossover study design, mares received detomidine (0.03 mg/kg of body weight, diluted in 3 ml of CSF) midsacral subarachnoidally, followed by atipamezole (0.1 mg/kg [test]) or sterile saline (0.9% NaCl) solution (control), i.v. 61 minutes later and saline solution (3 ml, midsacral subarachnoidally) on a separate occasion, at least 2 weeks later. Analgesia was determined by lack of sensory perception to electrical stimulation at the perineal dermatome and no response to needle-prick stimulation extending from the coccygeal to T15 dermatomes. Arterial acid-base (pH, standard bicarbonate, and base excess values), gas tensions (PO2, PCO2), PCV, total solids concentration, heart and respiratory rates, rectal temperature, and arterial blood pressure were determined, and mares were observed for sweating and urination. Mean scores of perineal analgesia, head ptosis, position of pelvic limbs, and cardiovascular and respiratory data were compared for the 3-hour test period. Subarachnoidally administered detomidine induced perineal analgesia (mean +/- SD onset, 9.0 +/- 4.6 minutes; duration, 130 +/- 26 minutes), marked head ptosis, moderate changes in pelvic limb position, cardiovascular and respiratory depression, sweating in analgesic zones, and diuresis. Intravenously administered atipamezole significantly reduced mean scores of detomidine-induced perineal analgesia, head ptosis, pelvic limb position, sweating and diuresis; partially antagonized detomidine-induced bradycardia; and did not effect detomidine-induced bradypnea. Most effects of midsacral subarachnoidally administered detomidine, except bradycardia and bradypnea, were reversed by atipamezole (0.1 mg/kg, i.v.), indicating that most of the actions of detomidine were mediated

  9. Non-Hodgkin`s lymphoma of the sino-nasal region penetrating to the orbit and cranial cavity; Chloniak nieziarniczy zatok przynosowych wnikajacy do oczodolu i jamy czaszki

    Energy Technology Data Exchange (ETDEWEB)

    Jordan, E.; Piotrowski, S.; Grono, L.; Zalewska-Rzezniczak, I. [Szpital Morski im. PCK, Gdynia-Redlowo (Poland)]|[Szpital Miejski im. J. Brudzinskiego, Gdynia (Poland)

    1994-12-31

    In case presented in this report non-Hodgkin`s lymphoma occupied the ethmoid and sphenoid sinuses with penetrating to the orbit and middle cranial fossa. The patient suffered from ophthalmic symptoms like ptosis, exophthalmus and diplopia. Chemotherapy in COP - pattern and MV radiotherapy in total dose 4600 cGy were applied. Full remission was achieved. The patient is alive after more than 2 years without recurrence of the disease. (author). 15 refs, 1 fig.

  10. Ocular myasthenia gravis: Side effect of urografin

    Directory of Open Access Journals (Sweden)

    Nitin Modi

    2016-01-01

    Full Text Available Ocular myasthenia gravis is an autoimmune disorder of the neuromuscular junction. Diplopia and ptosis are common symptoms at the onset of ocular myasthenia gravis. It may occur due to the antibodies developed against various drugs. We are reporting a case of ocular myasthenia gravis which was developed in a patient post angiography which may be due to antibody developed against the dye used in angiography.

  11. Gynecomastia Classification for Surgical Management: A Systematic Review and Novel Classification System.

    Science.gov (United States)

    Waltho, Daniel; Hatchell, Alexandra; Thoma, Achilleas

    2017-03-01

    Gynecomastia is a common deformity of the male breast, where certain cases warrant surgical management. There are several surgical options, which vary depending on the breast characteristics. To guide surgical management, several classification systems for gynecomastia have been proposed. A systematic review was performed to (1) identify all classification systems for the surgical management of gynecomastia, and (2) determine the adequacy of these classification systems to appropriately categorize the condition for surgical decision-making. The search yielded 1012 articles, and 11 articles were included in the review. Eleven classification systems in total were ascertained, and a total of 10 unique features were identified: (1) breast size, (2) skin redundancy, (3) breast ptosis, (4) tissue predominance, (5) upper abdominal laxity, (6) breast tuberosity, (7) nipple malposition, (8) chest shape, (9) absence of sternal notch, and (10) breast skin elasticity. On average, classification systems included two or three of these features. Breast size and ptosis were the most commonly included features. Based on their review of the current classification systems, the authors believe the ideal classification system should be universal and cater to all causes of gynecomastia; be surgically useful and easy to use; and should include a comprehensive set of clinically appropriate patient-related features, such as breast size, breast ptosis, tissue predominance, and skin redundancy. None of the current classification systems appears to fulfill these criteria.

  12. Gynecomastia Management: An Evolution and Refinement in Technique at UT Southwestern Medical Center

    Science.gov (United States)

    Bailey, Steven H.; Guenther, Dax; Constantine, Fadi

    2016-01-01

    Summary: Gynecomastia is a benign proliferation of male breast glandular tissue. Gynecomastia can affect men at any stage of life. Traditional treatment options involved excisional surgeries with periareolar or T-shaped scars, which can leave more visible scars on the chest. The technique presented represents a technique used by the senior author, which relies on ultrasonic liposuction and pull-through technique to remove breast tissue. A retrospective chart review was performed, including all patients who were treated, from 2000 to 2013 by the senior author, for gynecomastia. A deidentified database was created to record patient characteristics, including age, height, weight, ptosis, stage of gynecomastia, and gynecomastia classification. Surgical approaches, complications, and revisions were also recorded. Our experience includes 75 patients with all grades of gynecomastia from 2000 to 2013. These cases span the evolution of our technique to include direct pull-through excision with ultrasound-assisted liposuction. The distribution of the grades I, II, III, and IV ptosis was 30.6%, 36 %, 22.6%, and 10.6% respectively. There were no complications in this series. Only one patient with grade III ptosis required revision surgery. This technique provides a safe and aesthetically pleasing way to treat gynecomastia with a low need for revision. PMID:27482482

  13. Clinical predictors for the prognosis of myasthenia gravis.

    Science.gov (United States)

    Wang, Lili; Zhang, Yun; He, Maolin

    2017-04-19

    Clinical predictors for myasthenia gravis relapse and ocular myasthenia gravis secondary generalization during the first two years after disease onset remain incompletely identified. This study attempts to investigate the clinical predictors for the prognosis of Myasthenia Gravis. Eighty three patients with myasthenia gravis were concluded in this study. Baseline characteristics were analyzed as predictors. Relapse of myasthenia gravis developed in 26 patients (34%). Generalization developed in 34 ocular myasthenia gravis patients (85%). Other autoimmune diseases were observed more commonly in relapsed myasthenia gravis (P = 0.012). Second generalization group contained more late onset patients (P = 0.021). Ocular myasthenia gravis patients with thymus hyperplasia progressed more rapidly than those with other thymus pathology (P = 0.027). Single onset symptom of ocular myasthenia gravis such as ptosis or diplopia predicted early progression than concurrence of ptosis and diplopia (P = 0.027). Treatment effect including glucocorticoid, pyridostigmine, thymectomy, IVIG, immunosuppressive drugs did not show significant difference between the relapsed and non-relapsed groups. The treatment outcome also showed no difference between the single OMG and second generalized groups. Occurrence of associated autoimmune disease can serve as a potential predictor for myasthenia gravis relapse. Either ptosis or diplopia, as well as thymic hyperplasia can predict generalization in the first six months.

  14. Long-Lasting Cranial Nerve III Palsy as a Presenting Feature of Chronic Inflammatory Demyelinating Polyneuropathy

    Directory of Open Access Journals (Sweden)

    Rossella Spataro

    2015-01-01

    Full Text Available We describe a patient with chronic inflammatory demyelinating polyneuropathy (CIDP in which an adduction deficit and ptosis in the left eye presented several years before the polyneuropathy. A 52-year-old man presented with a 14-year history of unremitting diplopia, adduction deficit, and ptosis in the left eye. At the age of 45 a mild bilateral foot drop and impaired sensation in the four limbs appeared, with these symptoms showing a progressive course. The diagnostic workup included EMG/ENG which demonstrated reduced conduction velocity with bilateral and symmetrical sensory and motor involvement. Cerebrospinal fluid studies revealed a cytoalbuminologic dissociation. A prolonged treatment with corticosteroids allowed a significant improvement of the limb weakness. Diplopia and ptosis remained unchanged. This unusual form of CIDP presented as a long-lasting isolated cranial nerve palsy. A diagnostic workup for CIDP should therefore be performed in those patients in which an isolated and unremitting cranial nerve palsy cannot be explained by common causes.

  15. ADAT3-related intellectual disability: Further delineation of the phenotype.

    Science.gov (United States)

    El-Hattab, Ayman W; Saleh, Mohammed A; Hashem, Amal; Al-Owain, Mohammed; Asmari, Ali Al; Rabei, Hala; Abdelraouf, Hanem; Hashem, Mais; Alazami, Anas M; Patel, Nisha; Shaheen, Ranad; Faqeih, Eissa A; Alkuraya, Fowzan S

    2016-05-01

    ADAT3-related intellectual disability has been recently described in 24 individuals from eight Saudi families who had cognitive impairment and strabismus. Other common features included growth failure, microcephaly, tone abnormalities, epilepsy, and nonspecific brain abnormalities. A single homozygous founder mutation (c.382G>A:p.(V128M)) in the ADAT3 gene, which encodes a protein that functions in tRNA editing, was identified in all affected individuals. In this report, we present additional 15 individuals from 11 families (10 Saudis and 1 Emirati) who are homozygous for the same founder mutation. In addition to the universal findings of intellectual disability and strabismus, the majority exhibited microcephaly and growth failure. Additional features not reported in the original cohort include dysmorphic facial features (prominent forehead, up-slanted palpebral fissures, epicanthus, and depressed nasal bridge), behavioral problems (hyperactivity and aggressiveness), recurrent otitis media, and growth hormone deficiency. ADAT3-related intellectual disability is an important recognizable cause of intellectual disability in Arabia. © 2016 Wiley Periodicals, Inc.

  16. Robin sequence associated with karyotypic mosaicism involving chromosome 22 abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Salinas, C.F.; Jastrzab, J.M.; Centu, E.S. [Medical Univ. of South Carolina, Charleston, SC (United States)

    1994-09-01

    Robin sequence is characterized by cleft palate, hypoplastic mandible, glossoptosis and respiratory difficulties. The Robin sequence may be observed as an isolated defect or as part of about 33 syndromes; however, to our knowledge, it has never been reported associated with chromosome 22 abnormalities. We examined a two-month-old black boy with a severe case of Robin sequence. Exam revealed a small child with hypoplastic mandible, glossoptosis, high palate and respiratory difficulty with continuous apnea episodes resulting in cyanotic lips and nails. In order to relieve the upper airway obstruction, his tongue was attached to the lower lip. Later a tracheostomy was performed. On follow-up exam, this patient was found to have developmental delay. Cytogenetic studies of both peripheral blood and fibroblast cells showed mosaicism involving chromosome 22 abnormalities which were designated as follows: 45,XY,-22/46,XY,-22,+r(22)/46,XY. Fluorescence in situ hybridization (FISH) studies confirmed the identity of the r(22) and showed the presence of the DiGeorge locus (D22575) but the absence of the D22539 locus which maps to 22q13.3. Reported cases of r(22) show no association with Robin sequence. However, r(22) has been associated with flat bridge of the nose, bulbous tip of the nose, epicanthus and high palate, all characteristics that we also observed in this case. These unusual cytogenetic findings may be causally related to the dysmorphology found in the patient we report.

  17. [An updated review of 1p36 deletion (monosomy) syndrome].

    Science.gov (United States)

    Bello, Sabina; Rodríguez-Moreno, Antonio

    The Monosomy 1p36 deletion syndrome is part of the group of diseases known as Rare Diseases. The objective of the present work is to review the characteristics of Monosomy 1p36 deletion syndrome. The monosomy 1p36 deletion syndrome phenotype includes: dysmorphic craniofacial features; large anterior fontanelle, unibrow, deep-set eyes, epicanthus, wide nasal root/bridge, mandible hypoplasia, abnormal location of the pinna, philtrum and pointed chin; neurological alterations: seizures and hydrocephalus (in some cases). Cerebral malformations: ventricular hypertrophy, increased subarachnoid space, morphological alterations of corpus callosum, cortical atrophy, delays in myelinisation, periventricular leukomalacia and periventricular heterotopia. These alterations produce intellectual disability and delays in motor growth, communication skills, language, social and adaptive behaviour. It is Hearing and vision impairments are also observed in subjects with this syndrome, as well as alterations of cardiac, endocrine and urinary systems and alterations at skin and skeletal level. Approximately 100 cases have been documented since 1981. This rare disease is the most common subtelomeric-micro-deletion syndrome. In situ hybridization with fluorescence (FISH) and array-comparative genomic hybridization (CGH-array) are at present the two best diagnostic techniques. There is currently no effective medical treatment for this disease. Copyright © 2016 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  18. Anophthalmia-plus syndrome: a clinical report and review of the literature.

    Science.gov (United States)

    Makhoul, Imad R; Soudack, Michalle; Kochavi, Orna; Guilburd, Joseph N; Maimon, Shimon; Gershoni-Baruch, Ruth

    2007-01-01

    We describe a term male infant of healthy non-consanguineous parents, born with congenital malformations, including bilateral cleft palate and lip, mild microphthalmia with iris coloboma and glaucoma of the right eye, and blepharophimosis with severe microphthalmia of the left eye. Spine radiograph and MRI showed first sacral hemivertebra with spina bifida, and agenesis of the 2nd, 3rd, 4th, and 5th sacral vertebrae and coccyx. Spine MRI showed caudal tethering of spinal cord at L(3) level, filum terminalis lipoma and a syringomyelia. Brain ultrasound and MRI showed hypoplasia of corpus callosum with mild dilatation of the lateral ventricles. Orbital MRI showed bilateral microphthalmia-distorted small left eyeball with posteriorly located lens, and a split vitreous body in the right eye, suggestive of primary hyperplastic vitreous. The karyotype was normal. Summary of the findings in nine cases (our case and eight published cases) support the notion that anophthalmia-plus syndrome (APS) is a distinct syndrome. Gene locus of APS is yet to be identified. (c) 2006 Wiley-Liss, Inc.

  19. Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.

    Science.gov (United States)

    Thevenon, Julien; Monnier, Nicole; Callier, Patrick; Dieterich, Klaus; Francoise, Michel; Montgomery, Tara; Kjaergaard, Susanne; Neas, Katherine; Dixon, Joanne; Dahm, Thomas Lee; Huet, Frédéric; Ragon, Clémence; Mosca-Boidron, Anne-Laure; Marle, Nathalie; Duplomb, Laurence; Aubriot-Lorton, Marie-Hélène; Mugneret, Francine; Vokes, Steve A; Tucker, Haley W; Lunardi, Joël; Faivre, Laurence; Jouk, Pierre Simon; Thauvin-Robinet, Christel

    2014-12-01

    Distal limb contractures (DLC) represent a heterogeneous clinical and genetic condition. Overall, 20-25% of the DLC are caused by mutations in genes encoding the muscle contractile apparatus. Large interstitial deletions of the 3p have already been diagnosed by standard chromosomal analysis, but not associated with a specific phenotype. We report on four patients with syndromic DLC presenting with a de novo 3p14.1p13 microdeletion. The clinical features associated multiple contractures, feeding problems, developmental delay, and intellectual disability. Facial dysmorphism was constant with low-set posteriorly rotated ears and blepharophimosis. Review of previously reported cases with a precise mapping of the deletions, documented a 250 kb smallest region of overlap (SRO) necessary for DLC. This region contained one gene, EIF4E3, the first three exons of the FOXP1 gene, and an intronic enhancer of FOXP1 named hs1149. Sanger sequencing and locus quantification of hs1149, EIF4E3, and FOXP1 in a cohort of 11 French patients affected by DLC appeared normal. In conclusion, we delineate a new microdeletion syndrome involving the 3p14.1p13 locus and associated with DLC and severe developmental delay. © 2014 Wiley Periodicals, Inc.

  20. Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report

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    Tullo Domenica

    2011-01-01

    Full Text Available Abstract Introduction Dubowitz syndrome is a very rare, autosomal recessive disease characterized by microcephaly, growth retardation, a high sloping forehead, facial asymmetry, blepharophimosis, sparse hair and eyebrows, low-set ears and mental retardation. Symptoms vary between patients, but other characteristics include a soft high-pitched voice, dental and craniofacial abnormalities, partial webbing of the fingers and toes, palate deformations, genital abnormalities, eczema, hyperactivity, preference for concrete over abstract thinking, language difficulties and an aversion to crowds. Case presentation We describe the craniofacial and dental characteristics of a 12-year-old Caucasian Italian boy with both the typical and less common findings of Dubowitz syndrome. Conclusion Diagnosis of Dubowitz syndrome is mainly based on the facial phenotype. Possible conditions for differential diagnosis include Bloom syndrome, Smith-Lemli-Opitz syndrome, and fetal alcohol syndrome. As there are few reports of this syndrome in the literature, we hope this case report will enable health professionals to recognize the phenotypic alterations of this syndrome, and allow early referral for the necessary multidisciplinary treatments.

  1. Craniofacial abnormalities among patients with Edwards Syndrome

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    Rafael Fabiano M. Rosa

    2013-09-01

    Full Text Available OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES. METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records. RESULTS: The sample consisted of 50 patients, of which 66% were female. The median age at first evaluation was 14 days. Regarding the karyotypes, full trisomy of chromosome 18 was the main alteration (90%. Mosaicism was observed in 10%. The main craniofacial abnormalities were: microretrognathia (76%, abnormalities of the ear helix/dysplastic ears (70%, prominent occiput (52%, posteriorly rotated (46% and low set ears (44%, and short palpebral fissures/blepharophimosis (46%. Other uncommon - but relevant - abnormalities included: microtia (18%, orofacial clefts (12%, preauricular tags (10%, facial palsy (4%, encephalocele (4%, absence of external auditory canal (2% and asymmetric face (2%. One patient had an initial suspicion of oculo-auriculo-vertebral spectrum (OAVS or Goldenhar syndrome. CONCLUSIONS: Despite the literature description of a characteristic clinical presentation for ES, craniofacial alterations may be variable among these patients. The OAVS findings in this sample are noteworthy. The association of ES with OAVS has been reported once in the literature.

  2. Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report.

    Science.gov (United States)

    Ballini, Andrea; Cantore, Stefania; Tullo, Domenica; Desiate, Apollonia

    2011-01-27

    Dubowitz syndrome is a very rare, autosomal recessive disease characterized by microcephaly, growth retardation, a high sloping forehead, facial asymmetry, blepharophimosis, sparse hair and eyebrows, low-set ears and mental retardation. Symptoms vary between patients, but other characteristics include a soft high-pitched voice, dental and craniofacial abnormalities, partial webbing of the fingers and toes, palate deformations, genital abnormalities, eczema, hyperactivity, preference for concrete over abstract thinking, language difficulties and an aversion to crowds. We describe the craniofacial and dental characteristics of a 12-year-old Caucasian Italian boy with both the typical and less common findings of Dubowitz syndrome. Diagnosis of Dubowitz syndrome is mainly based on the facial phenotype. Possible conditions for differential diagnosis include Bloom syndrome, Smith-Lemli-Opitz syndrome, and fetal alcohol syndrome. As there are few reports of this syndrome in the literature, we hope this case report will enable health professionals to recognize the phenotypic alterations of this syndrome, and allow early referral for the necessary multidisciplinary treatments.

  3. Evaluación de los resultados quirúrgicos de la mastoplastia por vía periareolar Evaluation of the surgical results of mastoplasty by periareolar route

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    Yamilé León Rodríguez

    2009-03-01

    Full Text Available INTRODUCCIÓN. La mayor desventaja de la corrección de la hipertrofia mamaria moderada o la normotrofia asociadas a ptosis de grado I y II reside en las cicatrices visibles. Este trabajo buscó evaluar los resultados de una técnica de plastia mamaria de reducción y suspensión, por vía periareolar. MÉTODOS. En el Servicio de Cirugía Plástica del Hospital Clinicoquirúrgico «Hermanos Ameijeiras» fueron operadas 24 pacientes a las que se les realizó mastoplastia por vía periareolar. La técnica consistió en el diseño de un colgajo dermograso glandular fijado a la aponeurosis clavipectoral, mediante una incisión circular periareolar, de modo que la mama mantuviera su forma, consistencia y posición. RESULTADOS. Los resultados se evaluaron entre el primer, tercer y sexto mes después de la operación y al año de esta. En el 79,2 % de las pacientes se obtuvieron resultados estéticos. Se corrigió la ptosis mamaria en el 95,7 % de los casos y se logró una proyección anterior de la mama adecuada en el 87,5 % de las pacientes. Solo hubo complicaciones en tres casos y consistieron en lipólisis abscedada y necrosis de la piel. CONCLUSIONES. Con la técnica empleada se lograron buenos resultados estéticos en la mayoría de las pacientes, así como la corrección y reducción de la ptosis y volumen mamario respectivamente, con un mínimo de complicaciones leves.INTRODUCTION. The greatest disadvantages of the correction of moderate breast hypertrophy or normotrophy associated with I and II degree ptosis are the visible scars. This paper is aimed at evaluating the results of a breast reduction and suspension plasty technique by periareolar route. METHODS. 24 female patients underwent mastoplasty by periareolar route at the Plastic Surgery Service of «Hermanos Ameijeiras» Clinical and Surgical Hospital. The technique consisted in the design of a glandular dermofat flap fixed to the clavipectoral aponeurosis by a circular periareolar

  4. Mamoplastia de aumento dinámica con control de vectores

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    R.A. Vallarta-Rodríguez

    2014-12-01

    Full Text Available La mamoplastia de aumento debe ser una cirugía segura, predecible, duradera, que mantenga la forma natural de las mamas, preserve la sensibilidad del complejo areola-pezón, no altere la lactancia, con mínima reacción al implante colocado, y que no interfiera con los estudios imagenológicos. Cuando las mamas presentan alguna deformidad asociada tipo ptosis, mamas tuberosas, etc, el emplear una combinación de técnicas brinda un mejor resultado final en comparación con el empleo de un procedimiento de aumento puro. Presentamos la técnica quirúrgica que empleamos desde el 2003 que a nuestro juicio cumple con todos estos objetivos y puede utilizarse para aumento mamario en pacientes con ptosis leve o moderada. Describimos la técnica con detalle y discutimos las indicaciones y ventajas de incorporar estos refinamientos técnicos a la mamoplastia de aumento convencional. Recogemos 230 casos en los que se realizó mamoplastia de aumento multiplanar con disección muscular ampliada en bloque, optimizando vectores independientes para reposicionar el complejo areola-pezón en su posición ideal en casos de ptosis asociada. Agregamos puntos de anclaje percutáneos en 98 pacientes para conseguir este efecto. No hemos tenido complicaciones mayores, más allá de pequeñas dehiscencias superficiales de las heridas en 18 casos que se corrigieron con tratamiento expectante sin dejar secuelas. Con esta técnica intentamos aportar una opción más al cirujano plástico para ofrecer un resultado natural y duradero a las pacientes que se someten a mamoplastia de aumento.

  5. Teste do gelo no diagnóstico de miastenia gravis Ice pack test in the diagnosis of myasthenia gravis

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    Nilson Lopes da Fonseca Junior

    2010-04-01

    Full Text Available OBJETIVO: Demonstrar a sensibilidade e especificidade do teste do gelo no diagnóstico diferencial de ptose palpebral por miastenia gravis. MÉTODOS: Estudo prospectivo tipo ensaio clínico com grupo controle. Foi realizado o teste do gelo em pacientes portadores de ptose palpebral. Os pacientes foram divididos em 2 grupos, sendo o grupo I constituído por pacientes com miastenia gravis e o grupo II (controle formado por pacientes portadores de ptose congênita, miogênica não-miastênica ou aponeurótica. RESULTADOS: Todos os pacientes do grupo I tiveram aumento da fenda palpebral de, no mínimo, 3 mm após a aplicação do gelo. Nenhum paciente do grupo II apresentou incremento da fenda palpebral após o teste. CONCLUSÃO: O teste do gelo mostrou-se específico para detecção de ptose palpebral de causa miastênica.PURPOSE: To demonstrate the sensitivity and the specificity of the ice test in the differential diagnosis of ptosis in myasthenia gravis. METHODS: Prospective trial with a control group. The patients were instructed to hold a frozen ice pack on the closed ptotic eyelid. They were divided into 2 groups, with group I consisting of patients with myasthenia gravis and group II (control consisting of patients with congenital, non-myasthenic myogenic or aponeurotic ptosis. RESULTS: All patients in group I had increased palpebral fissure for at least 3 mm after the application of ice pack. No patient in group II showed increased palpebral fissure after the ice test. CONCLUSION: Ice test proved to be specific for the detection of myasthenic ptosis.

  6. The clinical characteristics and new classification of sticky eyelid syndrome in East Asian patients.

    Science.gov (United States)

    Chang, Minwook; Lee, Hwa; Park, Min Soo; Baek, Sehyun

    2014-12-01

    The aim of this study was to demonstrate the characteristics of sticky eyelid syndrome (SES) and to suggest a modified definition and new classification of the disease in relation to the severity of the syndrome in East Asian patients. Forty-four eyes of 31 patients with sticky eyelid syndrome were included in this study. The medical records of patients who were diagnosed with sticky eyelid syndrome were retrospectively reviewed. Sticky eyelid syndrome was defined as an abnormal adhesion between the upper and lower eyelids during blinking. We divided the subjects into four grades according to the severity of the disease. Among 31 patients, there were 10 men and 21 women. The mean age of patients was 62.5 years. A total of 13 patients had SES bilaterally. All patients had meibomian gland dysfunction (MGD). Thirty-three eyes had dermatochalasis, and 30 eyes had involutional ptosis. Horizontal lower lid laxity was observed in 23 eyes, and reverse ptosis found in 15 eyes. Patients were classified into four groups as follows: G1: 11 (25%), G2: 24 (54.5%), G3: 6 (13.6%) and G4: 3 eyes (6.8%). Patients in Grade 1 tended to improve only with medical treatment for MGD. However, surgical management was necessary for patients in Grades 3 and 4. Meibomian gland dysfunction is a fundamental risk factor for developing sticky eyelid syndrome. Further, combined upper lid ptosis or lower lid laxity may be aggravating factors. According to the grading, medical or surgical management can be chosen. © 2014 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.

  7. The Phenylephrine Test Revisited.

    Science.gov (United States)

    Barsegian, Arpine; Botwinick, Adam; Reddy, Harsha S

    To characterize the phenylephrine test in ptotic patients to help clinicians perform the test more efficiently. Adults with involutional ptosis (n = 24, 30 eyes) were assessed with digital photographs for response to topical 2.5% phenylephrine drop instillation. Patient characteristics (age, gender, iris color, dermatochalasis, brow ptosis, and baseline marginal reflex distance-1 [MRD-1] height) were recorded. From the photographs, change in (MRD-1), presence of conjunctival blanching, pupillary dilation, and Hering effect were recorded at specified time intervals, 1 minute to 1 hour after drop placement. Correlations between patient characteristics and measured outcomes were evaluated using analysis of variance, Pearson coefficient, or chi-square tests. The authors found that 73% of eyes had eyelid elevation with phenylephrine. Of these, 50% reached maximal eyelid elevation by 5 minutes, and 86% by 10 minutes after drop placement, but 14% did not reach maximal MRD-1 until 30 minutes. There is a negative correlation between the maximum MRD-1 and the baseline MRD-1 eyelid height (r = -0.5330, p patient characteristic studied affected the likelihood of eyelid response to phenylephrine or presence of Hering effect. Although most ptotic eyelids demonstrate a response to 2.5% phenylephrine within 10 minutes, there is a subset of patients that respond much later. More ptotic eyelids had greater eyelid elevation with phenylephrine. Pupillary dilation and conjunctival blanching are neither predictive of nor temporally associated with eyelid height elevation. The authors did not identify any patient factors (e.g., dermatochalasis, brow ptosis) that can predict the likelihood of response to phenylephrine.

  8. The success rate of TED upper eyelid retraction reoperations.

    Science.gov (United States)

    Golan, Shani; Rootman, Dan B; Goldberg, Robert A

    2016-12-01

    Although reoperation rates for upper lid retraction surgery for thyroid eye disease (TED) typically range between 8% and 23%, there is little literature describing the outcomes of these second operations. In this retrospective observational cohort study, all patients that underwent surgery for upper eyelid retraction over a 14-year period at a single institution were included. Cases were included if a second eyelid retraction surgery was performed during the study period. Success of surgery was defined as a marginal reflex distance (MRD1) of 2.5 to 4.5 mm in each eye and less than 1 mm difference in MRD1 between the eyes. Overcorrection and undercorrection were defined as above and below these bounds, respectively. 72 eyes in 49 patients were included in the study. The mean age was 56.6 (±11.5) years. By definition, all patients had at least 1 lid lengthening surgery for upper eyelid retraction, and at least 1 subsequent surgery. For this second surgery, 61 eyes (85%) underwent retraction surgery and 11 eyes (15%) underwent ptosis surgery. After this second operation, 31% were undercorrected and 33% were overcorrected. A third surgery was performed in 19 eyes (25%), 12 had surgery for residual retraction and 7 for ptosis. After the third operation 10% of eyes were under corrected and 11% were over corrected. Four patients underwent a fourth surgery: one for retraction and three for ptosis. Success was noted in 35% after the second surgery and 44% after the third. Surgical success in eyelid retraction surgery increases from a second to a third consecutive surgery, and residual asymmetry was roughly equally distributed between over- and undercorrection.

  9. Recurrent painful ophthalmoplegic neuropathy; A case report

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    Semra Saygi

    2014-08-01

    Full Text Available Recurrent painful ophthalmoplegic neuropathy, typically seen as a serious childhood migraine attack which is followed by ptosis and diplopia due to oculomotor nerve palsy. This is regarded as a form of migraine in the previous classifications but according to the latest classification of the International Headache Society has been recognized as cranial neuralgia. Due to the poor pathological and radiological findings of oculomotor nerve during attack, it is difficult to make differential diagnosis. In this manuscript we report 11-year-old female patient with ophtalmoplegic migraine. [Cukurova Med J 2014; 39(4.000: 938-941

  10. Síndrome MAPE, heavy eye y esclerodermia

    OpenAIRE

    Brugnoli de Pagano, Ofelia; Pagano, Gabriela

    2009-01-01

    Paciente de 60 años de edad y sexo femenino con esclerodermia y miopía alta bilateral que consulta por estrabismo y ptosis palpebral. El estrabismo consiste en esotropía progresiva con hipotropía de ojo derecho (OD) asociado a miopía alta axial con gran tamaño del globo ocular medido por ecometría ultrasónica que conjuntamente con imágenes de Resonancia Magnética Nuclear (RMN) llevan al diagnóstico de Síndrome MAPE (Miopic Acquired Progressive...

  11. Objective assessment of quality of life in female patients after esthetic, non-oncologic or oncologic surgery of their mammary glands--reality and perspectives.

    Science.gov (United States)

    Molov, Veselin V; Tepavicharova, Penka P; Deenichin, George P; Mitov, Franz S

    2005-01-01

    The World Health Organisation defines health as a state of complete physical, mental and social well-being, and not merely the absence of a disease or infirmity. The female breast, surgically considered as a "troubled organ", can be affected by disorders of various types. Its normal morphology can be changed by deformities which may have a serious impact on the mental state of female patients. Assessment of these deformities is essential when doctors should define the inclusion and exclusion criteria for each breast operation that has elements of esthetic surgery in it, the breast being indisputably a symbol of female beauty. When we consider the parameters of normal breast morphology, it is only proper to take into account their dependence on race, national culture, folk psychology, etc. For Bulgarian women, P. Tepavicharova has found that the distance from fossa jugularis to the nipple-areolar complex can have the following characteristic proportions: 15.5-17 cm for a woman 155-160 cm in height and with breast circumference of 75-80 cm; 17-18.5 cm for woman 160-165 cm in height and with breast circumference of 89-95 cm; and 18-20 cm for a woman 165-170 cm in height and with breast circumference of 95-100 cm. J. Lalardie points out that breast stability is determined by three principal factors: skin and its elasticity, the condition of the underlying collagenous structure of the breast, and the firm bond between the skin and fibrous elements. RB Brinks defines the four forms of ptosis of the breast: glandular ptosis, true ptosis, parenchymal maldistribution, and pseudoptosis. According to P. Tepavicharova, the violation of breast symmetry is the major factor triggering a sequence of psychosomatic reactions. The basic parameters of female breast morphology are the mammary base, mammary perimeter, the forward projection of the breast, symmetry, breast volume, and the state of the axillary extension. The major deviations from normal breast morphology that can have an

  12. [Giant aneurysm of posterior comunicating artery (PCoA) in cerebral panarteriography and CT angiography (CTA)].

    Science.gov (United States)

    Jaźwiec, Przemysław; Chwiszczuk, Luiza; Sasiadek, Marek; Całka, Karol; Kuniej, Tomasz; Plucińska, Irena

    2008-01-01

    We present a case of 32-year-old woman, who was admitted to the Department of Neurology in the emergency mode, due to: instantaneous pupillary dilation (mydriasis), ptosis of the left eyeball and double vision. We performed plain CT, panarteriography of cerebral vessels, CT angiography with RT3D (volume-rendered three-dimensional) reconstruction images. On the base of imaging studies the diagnosis of giant saccular aneurysm of the left posterior communicating artery was established. The patient was operated on and the giant aneurysm of left posterior communicating artery was clipped, confirming radiological diagnosis. During operation and postoperative period no complications were noted.

  13. Open angle glaucoma in a case of Type IV Ehler Danlos syndrome: A rarely reported association

    OpenAIRE

    Mitra, Arijit; Ramakrishnan, R.; Kader, Mohideen Abdul

    2014-01-01

    A 26-year-old male presented to us with defective vision in the left eye. He had best corrected visual acuity (BCVA) of hand movement (HM) in right eye and 6/9 in left eye. He had ptosis with ectropion in both eyes and relative afferent pupillary defect (RAPD) in right eye. Intraocular pressure (IOP) was 46 and 44 mmHg in right and left eye, respectively. Fundus showed glaucomatous optic atrophy (GOA) in right eye and cup disc ratio (CDR) of 0.75 with bipolar rim thinning in left eye. Systemi...

  14. Colgajo dermoglandular de apoyo en mastopexia con implantes: técnica de la hamaca

    OpenAIRE

    A. Alí; C. Zuleta-Bechara; V. Vassaro

    2013-01-01

    La ptosis mamaria es consulta frecuente en la práctica del cirujano plástico, y las opciones quirúrgicas para su corrección son múltiples. A pesar de los avances en el tratamiento de esta alteración, los resultados impredecibles y las posibles complicaciones siguen siendo frecuentes, sobre todo cuando se asocia la colocación de implantes mamarios. La dehiscencia de la herida, la exposición del implante y la modificación de la forma de la mama, en especial del polo inferior, pueden estar prese...

  15. Autoimmune Myasthenia Gravis after Sternal Fracture

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    Jens A. Petersen

    2012-01-01

    Full Text Available We report a 54-year-old woman who suffered a commotio cerebri, whiplash injury and a chest trauma with sternal fracture due to a high-velocity car accident. Two months later, she developed unilateral ptosis and blurred vision, which worsened during the day. Multiple diagnoses were suggested, ranging from thoracic outlet syndrome towards depression. Symptoms persisted and five years later, the patient consulted a neurologist. Laboratory analysis revealed significantly elevated levels of antibodies to acetylcholine receptors, and the diagnosis of myasthenia gravis was made. Speculatively, the damage of retrosternal thymic remnants due to a sternal fracture might have precipitated the condition or exacerbated subclinical disease.

  16. Noonan syndrome: a clinical and genetic study of 31 patients

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    Bertola Débora Romeo

    1999-01-01

    Full Text Available Noonan syndrome is a multiple congenital anomaly syndrome, inherited in an autosomal dominant pattern. We studied 31 patients (18 males and 13 females affected by this disorder regarding their clinical and genetic characteristics. The most frequent clinical findings were short stature (71%; craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the palpebral fissures; short or webbed neck (87%; cardiac anomalies (65%, and fetal pads in fingers and toes (70%. After studying the probands' first-degree relatives, we made the diagnosis of Noonan syndrome in more than one family member in three families. Therefore, the majority of our cases were sporadic.

  17. Orbital Apex Syndrome Resulting from Mixed Bacterial Sphenoid Sinusitis

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    Mengfei Xiong

    2018-05-01

    Full Text Available Orbital apex syndrome (OAS is an uncommon disorder characterized by visual loss, ophthalmoplegia, ptosis and hypoaesthesia of the forehead[1]. OAS may result from a variety of inflammatory, infectious, neoplastic and vascular conditions that cause damage to the superior orbital fissure (with resultant oculomotor (III, trochlear (IV, abducens (VI and ophthalmic branch of the trigeminal nerve (V1 palsies and to the optic canal leading to optic nerve (II dysfunction. This case report describes the clinical development of OAS in a patient with bacterial sphenoid sinusitis.

  18. [Oropharyngeal dysphagia associated with Chiari I malformation and syringomyelia J].

    Science.gov (United States)

    Cortés-Medina, Julio César; Cárdenas-Lara, Armando; Guerrero-Rascón, Carlos Alberto; Rodríguez-Bautista, Heber

    2014-01-01

    Dysphagia associated with neurological disease is an important clinical manifestation in the diagnosis of injury that justifies the compression of the brainstem and lower cranial nerves. To emphasize the study of dysphagia in a patient with Chiari I malformation associated with syringomyelia in the absence of primary gastroenterological symptoms. We describe the case of a 62 year-old woman with oropharyngeal dysphagia of six years of evolution, cervicobrachialgia, ptosis and facial diplexia. Magnetic resonance imaging is an essential element for establishing the etiologic diagnosis of neurogenic dysphagia.

  19. A case of relapsing flitting bilateral idiopathic orbital inflammation

    Energy Technology Data Exchange (ETDEWEB)

    Browne, Michelle Ann [Children' s University Hospital, Department of Radiology, Dublin (Ireland); University College Hospital, Department of Radiology, Galway (Ireland); O' Keefe, Michael [Children' s University Hospital, Department of Ophthalmology, Dublin (Ireland); Twomey, Eilish; Donoghue, Veronica; Ryan, Stephanie [Children' s University Hospital, Department of Radiology, Dublin (Ireland)

    2009-12-15

    Idiopathic orbital inflammation (IOI) is defined as a benign non-infective clinical syndrome characterized by features of non-specific inflammation of the orbit without identifiable local or systemic causes. This can be called orbital myositis if the inflammation is predominantly in the orbital muscles. It is a diagnosis of exclusion based on clinical, radiological, and if necessary, histological findings. The most commons symptoms are swelling, ptosis, proptosis and painful eye movements. To our knowledge, this patient is the first with IOI to demonstrate relapsing flitting bilateral involvement of several individual extra-ocular muscles. (orig.)

  20. A case of relapsing flitting bilateral idiopathic orbital inflammation.

    LENUS (Irish Health Repository)

    Browne, Michelle Ann

    2009-12-01

    Idiopathic orbital inflammation (IOI) is defined as a benign non-infective clinical syndrome characterized by features of non-specific inflammation of the orbit without identifiable local or systemic causes. This can be called orbital myositis if the inflammation is predominantly in the orbital muscles. It is a diagnosis of exclusion based on clinical, radiological, and if necessary, histological findings. The most commons symptoms are swelling, ptosis, proptosis and painful eye movements. To our knowledge, this patient is the first with IOI to demonstrate relapsing flitting bilateral involvement of several individual extra-ocular muscles.

  1. Anesthetic management in a pediatric patient with Noonan syndrome, hypopituitarism and hypothyroidism: A case report

    Directory of Open Access Journals (Sweden)

    Abdulkadir Yektaş

    2013-06-01

    Full Text Available Noonan syndrome is a genetically transmitted autosomaldominant disorder characterized by various anatomicanomalies and pathophysiologic derangements. Associatedanomalies include hyperthelorism, ptosis, micrognathia,downward sloping palpebral fissures, low-set ears,abnormal helix of ear, deeply grooved philtrum, short and/or webbed neck, low hairline and cervical vertebral anomalies.Patients with Noonan syndrome are known to presentwith challenging airways. Tracheal intubation can bedifficult because of airway and cervical vertebral anomaliesand bag mask ventilation may be difficult because ofasymmetrical face. We present a case of anesthetic managementfor Noonan syndrome. J Clin Exp Invest 2013;4 (2: 238-241Key words: Anesthesia, general, noonan syndrome, airwaymanagement

  2. Nontraumatic orbital roof encephalocele.

    Science.gov (United States)

    Hoang, Amber; Maugans, Todd; Ngo, Thang; Ikeda, Jamie

    2017-02-01

    Intraorbital meningoencephaloceles occur most commonly as a complication of traumatic orbital roof fractures. Nontraumatic congenital orbital meningoncephaloceles are very rare, with most secondary to destructive processes affecting the orbit and primary skull defects. Treatment for intraorbital meningoencephaloceles is surgical repair, involving the excision of herniated brain parenchyma and meninges and reconstruction of the osseous defect. Most congenital lesions present in infancy with obvious globe and orbital deformities; we report an orbital meningoencephalocele in a 3-year-old girl who presented with ptosis. Copyright © 2017 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

  3. Clinical and electrodiagnostic findings in cyhalothrine poisoning

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    Keivan Basiri

    2016-01-01

    Full Text Available Acute onset bulbar symptoms with respiratory failure and descending paralysis may occur in several neuromuscular disorders including variants of Guillain-Barre syndrome (GBS, diphtheria, botulism and toxins. We present a 51-year-old man who presented with complains of ptosis and dyspnea following pyrethroids spraying in an enclosed area for eradication of flea. Within 5-6 days of admission limb weakness, dysphagia, dysarthria, blurred vision, diplopia, tremor and respiratory distress added to previous symptoms. Temporal profile of events after exposure, development of similar symptoms in patient's son, electrodiagnostic findings and exclusion of other etiologies confirms intoxication etiology. We reviewed the literature and provide an extensive electrodiagnostic overview.

  4. Endoscopic brow lifts uber alles.

    Science.gov (United States)

    Patel, Bhupendra C K

    2006-12-01

    Innumerable approaches to the ptotic brow and forehead have been described in the past. Over the last twenty-five years, we have used all these techniques in cosmetic and reconstructive patients. We have used the endoscopic brow lift technique since 1995. While no one technique is applicable to all patients, the endoscopic brow lift, with appropriate modifications for individual patients, can be used effectively for most patients with brow ptosis. We present the nuances of this technique and show several different fixation methods we have found useful.

  5. Síndrome de Usher asociado a miastenia gravis y esquizofrenia

    OpenAIRE

    Santisteban Aguilera, Francisca; Gómez Álvarez, Francisco; Freyre Luque, Rásife; Gorguet Pi, Iliana; Moreno López, Lissett

    2009-01-01

    Se presenta el caso de un paciente atendido en el Hospital Provincial “Saturnino Lora” y el Centro de Retinosis Pigmentaria de Santiago de Cuba con características audiológicas, propias de una hipoacusia neurosensorial moderada, afecciones oftalmológicas, cansancio generalizado, disfagia, ptosis palpebral bilateral asimétrica con predominio en el lado izquierdo, afectación del oblicuo, del recto interno y ausencia del reflejo nauseoso, además de ideas delirantes y alucinaciones. Las alteracio...

  6. Familial myasthenia gravis: report of four cases

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    José Lamartine de Assis

    1976-09-01

    Full Text Available Two pairs of siblings with myasthenia gravis, belonging to two different families, are reported. This is the only record of familial myasthenia during the past twenty years, in a total of 145 patients seen at the Neurological Clinic of the São Paulo Medical School. In spite of the fact that myasthenia gravis does not show hereditary characteristics, the peculiar features of the four cases justify the present report. The two pairs of siblings were born from non myasthenic nor consanguineous parents. The disease started at birth showing bilateral partial eyelid ptosis in all patients. The course of the illness has been favorable. There was no thymoma.

  7. Hypersomnia as presenting symptom of anti-Ma2-associated encephalitis: case study.

    Science.gov (United States)

    Rojas-Marcos, Iñigo; Graus, Francesc; Sanz, Gema; Robledo, Arturo; Diaz-Espejo, Carlos

    2007-01-01

    We describe a patient who presented with excessive daytime sleepiness (EDS) and was eventually diagnosed with anti-Ma2 encephalitis. Neurological examination disclosed somnolence, left palpebral ptosis, and vertical gaze paresis. A brain MRI showed high signal intensity in the hypothalamus and each hippocampus. Ma2 antibodies were found in the patient's serum, and fiberbronchoscopy disclosed a lung carcinoma. After three months of steroid treatment, the results of the patient's neurological exam became normal. We conclude that anti-Ma2 encephalitis may present with mostly isolated EDS and that it may respond to steroids despite old age and the presence of an untreated lung cancer.

  8. Blepharochalasis

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    Özlem Bilgiç

    2012-12-01

    Full Text Available Blepharochalasis is a disorder characterized by recurrent episodes of painless edema of the eyelid skin, which leads to atrophy and relaxation of the eyelid structures and ptosis. The condition typically manifests itself in childhood or adolescence. The author reported a 16-year-old girl who has been suffered from recurrent painless swelling episodes on the upper eyelids for three years and laxity and wrinkling predominantly on the right upper eyelid for one year. This case was presented for the disorder is a rarely encountered disease and may easily misdiagnosed as recurrent angioedema, especially in its early stage.

  9. Preliminary screening of five ethnomedicinal plants of Guatemala.

    Science.gov (United States)

    Morales, C; Gomez-Serranillos, M P; Iglesias, I; Villar, A M; Cáceres, A

    2001-01-01

    We performed the Irwin test on some different extracts of the aerial parts of Tridax procumbens L., of the leaves of Neurolaena lobata (L.) R. Br., of the bark and leaves of Byrsonima crassifolia (L.) Kunth. and Gliricidia sepium Jacq. Walp. and of the root and leaves of Petiveria alliacea L. At a dosage of 1.25 g extract/100 g dried plant, the aqueous extracts of bark and leaves of Byrsonima crassifolia (L.) Kunth. and G. sepium Jacq. Walp. showed higher activity: decrease in motor activity, back tonus, reversible parpebral ptosis. catalepsy and strong hypothermia.

  10. Ultrasonographic Observations of the Pleural Effusion

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    Lee, Dong Hoo; Park, Sung Soo; Lee, Chung Hee

    1982-01-01

    Five cases of patients with pleural effusion were evaluated by the grey-scale ultrasonography. Ultrasonography of pleural effusion in each case was represented as fluid accumulation within the pleural cavity with anechoic crescent moon shape or saddle appearance marginated by diaphragm. Ptosis of the liver with demonstrable right diaphragm was assessment in the severe right pleural effusion. it is emphasized that the practical advantages of the ultrasonographic approach were notable both in establishing diagnosis and in treatment of pleural effusion,with special regarding of noninvasiveness particularly in the women of pregnancy, of staging in the patient with malignant lymphoma, and of safety in a subsequent thoracentesis under the ultrasonographic guidance

  11. Ultrasonographic Observations of the Pleural Effusion

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Dong Hoo; Park, Sung Soo; Lee, Chung Hee [Hanyang University School of Medicine, Seoul (Korea, Republic of)

    1982-12-15

    Five cases of patients with pleural effusion were evaluated by the grey-scale ultrasonography. Ultrasonography of pleural effusion in each case was represented as fluid accumulation within the pleural cavity with anechoic crescent moon shape or saddle appearance marginated by diaphragm. Ptosis of the liver with demonstrable right diaphragm was assessment in the severe right pleural effusion. it is emphasized that the practical advantages of the ultrasonographic approach were notable both in establishing diagnosis and in treatment of pleural effusion,with special regarding of noninvasiveness particularly in the women of pregnancy, of staging in the patient with malignant lymphoma, and of safety in a subsequent thoracentesis under the ultrasonographic guidance

  12. Myasthenic Crisis Complicated with Myxedema, Positive for Both Anti-acetylcholine Receptor and Anti-muscle-specific Tyrosine Kinase Antibodies.

    Science.gov (United States)

    Horiuchi, Kazuhiro; Nagai, Azusa; Wakita, Masahiro; Ito, Shotaro; Takamura, Kei; Houzen, Hideki

    2018-01-15

    We herein report the case of myasthenic crisis occurring in a 51-year-old man. He had experienced ptosis, increased body weight with edema, and fatigue with dyspnea. He presented at our emergency department with disturbed consciousness. He was originally diagnosed with myxedema coma, and he required artificial respiration. Because his weakness persisted and he was positive for anti-acetylcholine receptor antibodies and anti-muscle-specific tyrosine kinase antibodies, we diagnosed myasthenic crisis after various examinations. His clinical response to treatment was good and he was discharged in an ambulatory status 3 months after admission. This case demonstrates that myasthenic crisis may occur in association with myxedema.

  13. A patient with ascending aortic dilatation, similar to phenotypes of connective tissue disorders.

    Science.gov (United States)

    Onrat, S T; Emmiler, M; Sivaci, Y; Söylemez, Z; Ozgöz, A; Imirzalioğlu, N

    2009-04-14

    We report on the clinical and molecular findings of a patient who presented alopecia, epicanthus, micrognathia, retrognathia, high arched palate, hypertelorism, Chiari type I malformation, mixed-type hearing loss but with normal heartbeat Q-T interval, malformed earlobes, down-slanted palpebral fissures, downturned corners of the mouth, syndactyly, atopic eczema, and seizures. The patient was a male adult, 23 years old, with short stature (153 cm) and low weight (50.5 kg), due to severe aortic insufficiency and dilatation of the ascending aorta. Conventional cytogenetic screening did not show any chromosomal gains or losses. Molecular genetic screening was conducted for gene mutations involved in various syndromes; the mutations found included [beta-fibrinogen -455 G>A wt/wt (wt/mut), PAI-1 4G/5G (4G/4G), HPA1 a/b (a/a), MTHFR C677T wt/wt (wt/mut), ACE I/D (I/I), and Apo E E3/E4]. Many clinical and molecular genetics findings overlapped with other conditions associated with arterial tortuosity and arterial aneurysms, including the Marfan, Ehler-Danlos, Shprintzen-Goldberg, and Loeys-Dietz syndromes. Although a diagnosis of Shprintzen-Goldberg syndrome was based on clinical findings and radiographic findings indicate other syndromes, aortic root dilatation seems to be a new symptom, similar to phenotypes of connective tissue disorders. The unique grouping of clinical manifestations in this patient and the molecular genetics findings lead us to suggest that this case could be an example of a previously unrecognized syndrome.

  14. Unruptured aneurysms with cranial nerve symptoms: efficacy of endosaccular guglielmi detachable coil treatment

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    Kim, Dong Joon; Kim, Dong Ik; Lee, Seung Koo; Kim, Si Yeon [Yonsei University College of Medicine, Seoul (Korea, Republic of)

    2003-09-01

    To evaluate the efficacy of endosaccular Guglielmi detachable coil (GDC) treatment of unruptured aneurysms causing cranial nerve (CN) symptoms. Among a database of 218 patients whose aneurysms were treated using GDC, seven patients met the criteria for unruptured aneurysms presenting with symptoms and signs of CN palsy. Changes in CN symptoms before and after GDC treatment were reviewed. Aneurysms were located in the internal carotid-posterior communicating artery (n=3), the basilar bifurcation (n=1) and the cavernous internal carotid artery (n=3). CN symptoms included ptosis (n=6), mydriasis (n=2), and extraocular muscle (EOM) disorder (CN III: n=4; CN VI: n=3). Overall, improvement or resolution of CN symptoms after treatment was noted in five patients. CN symptoms in cases involving small (10 mm) and intradural aneurysms tended to respond better to GDC treatment. Ptosis was the initial symptom to show improvement, while EOM dysfunction responded least favourably. GDC coil packing appears to be an appropriate treatment method for the relief of CN symptoms associated with intracranial aneurysms.

  15. Trans-orbital orbitocranial penetrating injury by pointed iron rod

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    Vinod Kumar Tewari

    2015-01-01

    Full Text Available Trans-orbital orbitocranial penetrating injury (TOPI by a foreign body is an extremely rare compound head injury having a potential to cause major morbidity and mortality. Preoperative radiological imaging by CT scan is very important for operative guidance, but in remote area where CT scan is not available, the patient is generally referred to tertiary level. Here we present a case which was dealt successfully without CT scan, only on the basis of stable clinical status and X-rays. We present a case of a 35-year-old man who had an accidental injury (fall from height by rod. Immediate X-ray (anteroposterior and lateral views revealed that the pointed end of the foreign body (rod was inside the ipsilateral anterior fossa via basifrontal bone up to frontal vertex, not crossing the midline. CT scan was not available and his vitals with GCS were normal (15/15. He was operated with the help of an ophthalmic surgeon by right frontotemporal craniotomy. The patient was discharged on 10 th day without any neurological deficit except restricted right eyeball movement to superolateral and ptosis. The restricted eyeball movements recovered after third month of follow up with remnant ptosis for 2 years. This case highlights an unusual case, direct visualization and repair of brain structures with higher antibiotics can save the life even in remote areas where CT scan is still not available only on the basis of stable GCS and X-rays.

  16. Mamoplastia de aumento en doble plano: una alternativa subfascial en la optimización de las indicaciones Breast augmentation in dual plane: a subfascial alternative towards optimizing indications

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    O. D. Ventura

    2008-12-01

    Full Text Available Proponemos el Doble Plano en la cirugía de aumento mamario como una alternativa a las indicaciones de uso del plano subfascial. Presentamos 30 casos en los que se utilizan variantes de la técnica en doble plano y discutimos sus indicaciones y ventajas a la vez que describimos detalles de la técnica. Este método consiste en crear un bolsillo donde el implante queda cubierto por el músculo pectoral solamente en su tercio superior y por la fascia en el resto. Las proporciones de estos componentes se ajustan según las características anatómicas de cada caso. Las indicaciones de la técnica son las mamoplastias primarias, y más específicamente, las secundarias con ptosis, encapsulamiento o ripling.We propose Dual Plane tecnique in augmentative mammoplasty as an alternative for individual adjustment when using the subfascial plane. Thirty cases are presented in which a variation of the dual plane technique is used. Its indications, advantages and surgical highpoints are discussed. This method consists on a pocket where the implant is covered by the pectoral muscle only on its upper pole, and by the fascia on the rest of it. The percentages of this components are adjusted to the anatomical characteristics of each case. Indications of this technique are primary mammoplasties, and more precisely secondary ones with ptosis, contractile capsule or ripling.

  17. Hickam's dictum: Myasthenia Gravis presenting concurrently with Graves' disease.

    Science.gov (United States)

    Sehgal, Shekhar; Rebello, Roshan; Wolmarans, Louise; Elston, Marianne

    2017-09-07

    We present two patients with Graves' disease and concurrent myasthenia gravis. The impact of the dual diagnosis on the clinical course and the potential for a delayed diagnosis of myasthenia gravis is discussed. Patient 1, a 28-year-old man was diagnosed with Graves' disease following his second respiratory arrest. His history was strongly suggestive of a second pathology. Patient 2, a 66-year-old Cantonese woman with established Graves' disease presented with thionamide-related neutropaenia. Examination revealed bilateral ptosis and right lateral rectus palsy. Both patients had thyrotoxicosis secondary to Graves' disease with concurrent myasthenia gravis. Although neuromuscular weakness is common in Graves' disease, coexisting myasthenia gravis (MG) is rare and can cause profound morbidity. Ocular signs in both diseases may cause diagnostic confusion although ptosis suggests coexisting MG. In both cases, the thyrotoxicosis delayed the diagnosis of MG. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  18. Analysis of visual outcomes and complications following levator resection for unilateral congenital blepharoptosis without strabismus

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    Shu-Ya Wu

    2013-08-01

    Full Text Available Background: It is challenging to manage congenital blepharoptosis, especially unilateral, because symmetry is difficult to achieve under general anesthesia and age at which the ptosis should be corrected is still controversial. The aim of our study is to analyze visual and surgical outcomes after levator resection for unilateral congenital blepharoptosis. Methods: Charts of patients with unilateral congenital blepharoptosis who underwent levator resection at the Chang Gung Memorial Hospital from 1991 through 2000 were reviewed. The resultant database was interrogated for demographic data, severity, surgical timing, visual outcomes, surgical outcomes, and complications. Results: Eighty-four children underwent levator resection for unilateral congenital blepharoptosis: 16.7% of these patients had amblyopia and 84.5% had surgical success following levator resection. Severe ptosis (p = 0.0288, p < 0.05 and surgery at less than 2 years of age (p = 0.0126, p < 0.05 were the important factors contributing to surgical failure. Age at surgery (p = 0.0058, p < 0.01 and amblyogenic ametropia (p = 0.0001, p < 0.001 were found to be significantly associated with the postoperative visual results. Conclusion: The levator resection provides satisfactory results both in function and cosmesis in patients with unilateral congenital blepharoptosis. Amblyogenic ametropia is the leading cause of amblyopia in the patients with unilateral isolated congenital blepharoptosis. However, patients with unilateral congenital blepharoptosis should have cycloplegic refraction as early as possible, and their visual status monitored until visual maturity.

  19. The Co-Existence of Myasthenia Gravis in Patients with Myositis: A Case Series

    Science.gov (United States)

    Paik, Julie J.; Corse, Andrea M.; Mammen, Andrew L.

    2014-01-01

    Objective Myositis and myasthenia gravis (MG) are both autoimmune disorders presenting with muscle weakness. Rarely, they occur simultaneously in the same patient. Since the management of myasthenia gravis differs from that of myositis, it is important to recognize when patients have both diseases. We reviewed the cases of 6 patients with both myositis and MG to identify clinical features that suggest the possibility of co-existing MG in myositis patients. Methods We identified 6 patients with dermatomyositis or polymyositis and MG. We reviewed their medical records to assess their clinical presentations, laboratory findings, and electrophysiological features. Results All 6 patients had definite dermatomyositis or polymyositis by the criteria of Bohan and Peter as well as electrophysiologic and/or serologic confirmation of MG. Among overlap patients, 5/6 (83%) had bulbar weakness, 2/6 (33%) had ptosis, and 1/6 (17%) had diplopia. Fatigable weakness was noted by 5/6 (83%) patients. Treatment with pyridostigmine improved symptoms in 5/6 (83%). High dose steroids were associated with worsening weakness in 2/6 (33%) patients. Conclusions Prominent bulbar symptoms, ptosis, diplopia, and fatigable weakness should suggest the possibility of MG in patients with myositis. A suspicion of MG may be confirmed through appropriate electrophysiologic and laboratory testing. In those with myositis-MG overlap, high dose steroids may exacerbate symptoms and pryidostigmine may play an important therapeutic role. PMID:24412588

  20. Minimally invasive brow suspension for facial paralysis.

    Science.gov (United States)

    Costantino, Peter D; Hiltzik, David H; Moche, Jason; Preminger, Aviva

    2003-01-01

    To report a new technique for unilateral brow suspension for facial paralysis that is minimally invasive, limits supraciliary scar formation, does not require specialized endoscopic equipment or expertise, and has proved to be equal to direct brow suspension in durability and symmetry. Retrospective survey of a case series of 23 patients between January 1997 and December 2000. Metropolitan tertiary care center. Patients with head and neck tumors and brow ptosis caused by facial nerve paralysis. The results of the procedure were determined using the following 3-tier rating system: outstanding (excellent elevation and symmetry); acceptable (good elevation and fair symmetry); and unacceptable (loss of elevation). The results were considered outstanding in 12 patients, acceptable in 9 patients, and unacceptable in only 1 patient. One patient developed a hematoma, and 1 patient required a secondary adjustment. The technique has proved to be superior to standard brow suspension procedures with regard to scar formation and equal with respect to facial symmetry and suspension. These results have caused us to abandon direct brow suspension and to use this minimally invasive method in all cases of brow ptosis due to facial paralysis.

  1. A Case of Brown-Vialetto-Van Laere Syndrome Due To a Novel Mutation in Gene

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    Venkatraman Thulasi BA

    2017-08-01

    Full Text Available Brown-Vialetto-Van Laere syndrome is a rare disorder characterized by motor, sensory, and cranial neuronopathies, associated with mutations in SLC52A2 and SLC52A3 genes that code for human riboflavin transporters RFVT2 and RFVT3, respectively. The authors describe the clinical course of a 6-year-old girl with Brown-Vialetto-Van Laere syndrome and a novel homozygous mutation c.1156T>C in the SLC52A3 gene, who presented at the age of 2.5 years with progressive brain stem dysfunction including ptosis, facial weakness, hearing loss, dysphagia, anarthria with bilateral vocal cord paralysis, and ataxic gait. She subsequently developed respiratory failure requiring tracheostomy and worsening dysphagia necessitating a gastrostomy. Following riboflavin supplementation, resolution of facial diplegia and ataxia, improvements in ptosis, and bulbar function including vocalization and respiration were noted. However, her sensorineural hearing loss remained unchanged. Similar to other cases of Brown-Vialetto-Van Laere syndrome, our patient responded favorably to early riboflavin supplementation with significant but not complete neurologic recovery.

  2. Breast Reshaping Following Bariatric Surgery.

    Science.gov (United States)

    Vindigni, Vincenzo; Scarpa, Carlotta; Tommasini, Antonio; Toffanin, Maria Cristina; Masetto, Laura; Pavan, Chiara; Bassetto, Franco

    2015-09-01

    Obesity is a worldwide problem that affects millions of people from a medical and psychological point of view. To solve the related complications, patients should lose weight with the consequent need to be subjected to body contouring due to the presence of a loose and redundant skin. We report our experience in the treatment of the post-bariatric breast. We considered all the post-bariatric patients subjected to a breast reshaping, and we viewed the features of the breast, the type of surgery performed, the outcomes, and the complications. All patients filled out BREAST-Q surveys both preoperatively and after 6 months to study the rate of satisfaction. Ninety post-bariatric patients underwent breast reshaping in the last 5 years. The average age was 40 years old. The follow-up period ranged from 6 months to 5 years. The most represented ptosis was second grade; the favorite technique has been mastopexy with parenchymal remodelling and augmentation with autologous tissue. The mean duration of the surgery has been 3 h. The most represented complications have been delayed healing, unfavorable scarring, hematoma, and seroma. Statistically significant improvements were observed in satisfaction with breast appearance, psychological, and physical well-being. Breast reshaping in post-bariatric patients is a big challenge and only a careful analysis of the degree of ptosis of the breast, its volume and shape, and a clear communication with the patients about the real outcomes and complications can make the winning surgeon.

  3. Trends in the Surgical Correction of Gynecomastia

    Science.gov (United States)

    Brown, Rodger H.; Chang, Daniel K.; Siy, Richard; Friedman, Jeffrey

    2015-01-01

    Gynecomastia refers to the enlargement of the male breast due to a proliferation of ductal, stromal, and/or fatty tissue. Although it is a common condition affecting up to 65% of men, not all cases require surgical intervention. Contemporary surgical techniques in the treatment of gynecomastia have become increasingly less invasive with the advent of liposuction and its variants, including power-assisted and ultrasound-assisted liposuction. These techniques, however, have been largely limited in their inability to address significant skin excess and ptosis. For mild to moderate gynecomastia, newer techniques using arthroscopic morcellation and endoscopic techniques promise to address the fibrous component, while minimizing scar burden by utilizing liposuction incisions. Nevertheless, direct excision through periareolar incisions remains a mainstay in treatment algorithms for its simplicity and avoidance of additional instrumentation. This is particularly true for more severe cases of gynecomastia requiring skin resection. In the most severe cases with significant skin redundancy and ptosis, breast amputation with free nipple grafting remains an effective option. Surgical treatment should be individualized to each patient, combining techniques to provide adequate resection and optimize aesthetic results. PMID:26528088

  4. Gynecomastia: the horizontal ellipse method for its correction.

    Science.gov (United States)

    Gheita, Alaa

    2008-09-01

    Gynecomastia is an extremely disturbing deformity affecting males, especially when it occurs in young subjects. Such subjects generally have no hormonal anomalies and thus either liposuction or surgical intervention, depending on the type and consistency of the breast, is required for treatment. If there is slight hypertrophy alone with no ptosis, then subcutaneous mastectomy is usually sufficient. However, when hypertrophy and/or ptosis are present, then corrective surgery on the skin and breast is mandatory to obtain a good cosmetic result. Most of the procedures suggested for reduction of the male breast are usually derived from reduction mammaplasty methods used for females. They have some disadvantages, mainly the multiple scars, which remain apparent in males, unusual shape, and the lack of symmetry with regard to the size of both breasts and/or the nipple position. The author presents a new, simple method that has proven superior to any previous method described so far. It consists of a horizontal excision ellipse of the breast's redundant skin and deep excess tissue and a superior pedicle flap carrying the areola-nipple complex to its new site on the chest wall. The method described yields excellent shape, symmetry, and minimal scars. A new method for treating gynecomastis is described in detail, its early and late operative results are shown, and its advantages are discussed.

  5. Trends in the Surgical Correction of Gynecomastia.

    Science.gov (United States)

    Brown, Rodger H; Chang, Daniel K; Siy, Richard; Friedman, Jeffrey

    2015-05-01

    Gynecomastia refers to the enlargement of the male breast due to a proliferation of ductal, stromal, and/or fatty tissue. Although it is a common condition affecting up to 65% of men, not all cases require surgical intervention. Contemporary surgical techniques in the treatment of gynecomastia have become increasingly less invasive with the advent of liposuction and its variants, including power-assisted and ultrasound-assisted liposuction. These techniques, however, have been largely limited in their inability to address significant skin excess and ptosis. For mild to moderate gynecomastia, newer techniques using arthroscopic morcellation and endoscopic techniques promise to address the fibrous component, while minimizing scar burden by utilizing liposuction incisions. Nevertheless, direct excision through periareolar incisions remains a mainstay in treatment algorithms for its simplicity and avoidance of additional instrumentation. This is particularly true for more severe cases of gynecomastia requiring skin resection. In the most severe cases with significant skin redundancy and ptosis, breast amputation with free nipple grafting remains an effective option. Surgical treatment should be individualized to each patient, combining techniques to provide adequate resection and optimize aesthetic results.

  6. Herida por proyectil de arma de fuego en un niño: Presentación de un caso Gunshot wound in a child: A case report

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    Juan Carlos Quintana Díaz

    2005-08-01

    Full Text Available Se presenta la evolución de un paciente masculino de 10 años que sufrió una herida por proyectil de arma de fuego en el párpado superior izquierdo jugando con otro niño, lo que lo provocó una ptosis palpebral marcada. Se realizó estudio radiográfico preoperatorio donde se encontró el proyectil alojado en la pared orbitaria superior. Se constató una excelente evolución posoperatoria del paciente una vez intervenido quirúrgicamente.The evolution of a 10-year-old male patient who had a marked palpebral ptosis as a result of a wound made by a bullet in the left upper eyelid while playing with another child, is presented. A preoperative radiographic study was conducted and the projectile was found in the upper orbital wall. An excellent postoperative evolution was observed once the patient underwent surgery.

  7. [Juvenile myasthenia gravis in sub-Saharan Africa: a case study of two consanguine sisters born from consanguinity in Togo].

    Science.gov (United States)

    Maneh, Nidain; Apetse, Kossivi; Diatewa, Bénédicte Marèbe; Domingo, Sidik Abou-Bakr; Agba, Aidé Isabelle; Ayena, Koffi Didier; Balogou, Koffi Agnon; Balo, Komi Patrice

    2017-01-01

    Myasthenia gravis is a rare acquired autoimmune pathology causing neuromuscular transmission impairment. Juvenile onset of myasthenia gravis is often characterized by ocular involvement. We report two cases of ocular juvenile myasthenia gravis (JMG) in two siblings. They were two young girls, XA and XB, aged 11 and 9 years, of Malian origin, residing in Togo, born from first-degree of consanguinity presenting to Ophthalmology due to progressive decrease in visual acuity. XA showed visual acuity 8/10 on both eyes while XB showed improvement in visual acuity from 3/10 to 7/10 using a pinhole occluder, suggesting ametropia. XA had a 2-year history of bilateral ptosis lifting the upper eyelid of 7 mm, while XB had a 3-year history of bilateral ptosis with no lifting of the upper eyelid. Ice pack test was strongly positive in both patients. They had Cogan's lid twitch with paresis of the oculomotor nerve without diplopia. The dosage of acetylcholine receptor autoantibodies was normal. The diagnosis of JMG associated with ametropia was suspected. Ametropia was corrected by glasses and a specific treatment with pyridostigmine was initiated, but both patients were lost to follow-up. Autoimmune myasthenia gravis with inaugural ophthalmologic manifestation is rare but it can occur among children living in sub-Saharan Africa. Studies should be conducted to establish the features of this disease.

  8. De Novo Intraneural Arachnoid Cyst Presenting with Complete Third Nerve Palsy: Case Report and Literature Review.

    Science.gov (United States)

    Brewington, Danielle; Petrov, Dmitriy; Whitmore, Robert; Liu, Grant; Wolf, Ronald; Zager, Eric L

    2017-02-01

    Intraneural arachnoid cyst is an extremely rare etiology of isolated cranial nerve palsy. Although seldom encountered in clinical practice, this pathology is amenable to surgical intervention. Correct identification and treatment of the cyst are required to prevent permanent nerve damage and potentially reverse the deficits. We describe a rare case of isolated third nerve palsy caused by an intraneural arachnoid cyst. A 49-year-old woman with a recent history of headaches experienced acute onset of painless left-sided third nerve palsy. According to hospital records ptosis, mydriasis, absence of adduction, elevation, and intorsion were noted in the left eye. Computed tomography and magnetic resonance imaging studies showed an extra-axial, 1-cm lesion along the left paraclinoid region, causing mild indentation on the uncus. There was dense fluid layering dependently concerning for hemorrhage, but no evidence of aneurysms. A pterional craniotomy was performed, revealing a completely intraneural arachnoid cyst in the third nerve. The cyst was successfully fenestrated. At 7-month follow-up, the left eye had recovered intact intorsion and some adduction, but the left pupil remained dilated and nonreactive. There was still no elevation and no afferent pupillary defect. Double vision persisted with partial improvement in the ptosis, opening up to more than 75% early in the day. To our knowledge, this is the first report of an intraneural arachnoid cyst causing isolated third nerve palsy. This rare pathology proves to be both a diagnostic and therapeutic challenge. Copyright © 2016 Elsevier Inc. All rights reserved.

  9. Histological evaluation of levator palpebralis superior muscle in patients with congenital blepharoptosis

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    Sevda Söker

    2011-03-01

    Full Text Available The aim of this study was to examine levator palpebralis superior muscle histologically in patients with congenital blepharoptosis and to investigate the relationship between these findings and age, sex and degree of blefaroptosis in this patient group.Materials and methods: Levator muscle of 13 patients with congenital ptosis, who had applied to Dicle University Medical Faculty Ophthalmology Clinic and had undergone levator palpebralis superior muscle resection between january 2009-january 2010, has been examined histopathologically in Histology and Embriology Deparment. During preoperative period, ptosis amount, levator function (LF, tear functions, Bell’s phenomenon and jaw-winking phenomenon were evaluated. All patients underwent resection of levator palpebralis superior muscle. Received postoperative levator muscle was examined by light microscopy.Results: The average age of 9 (69.2% male and 4 (30.8% female cases were 10.61 ± 4.77 (4- 19 years. In histological examination, the quality and quantity of the levator muscle fibrils have been assessed. There was no relationship detected between histological features of levator palpebralis superior muscle and patient’s age and gender (p>0.05. Patients with weak levator palpebralis superior muscle were detected to have fatty degeneration histologically. The higher the levator palpebralis superior muscle function revealed decreased fatty degeneration and increased skeletal muscle fibrils.Conclusion: More ultrastructural studies in larger populations are needed to support the relationship between structure and function of levator palpebralis superior muscle in patients with congenital blepharoptosis.

  10. Neurogenic Bladder in Lyme Disease

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    Mi-hwa Kim

    2012-12-01

    Full Text Available Lyme disease is a multi-systemic, tick-borne infectious disease caused by a spirochete, Borrelia burgdorferi. Various urologic symptoms are associated with Lyme disease, which can be primary or late manifestations of the disease. Although voiding dysfunction is a rarely reported symptom in patients with Lyme disease, it is one of the most disabling complications of Lyme disease. Korea is not an endemic area of Lyme disease, thus, fewer cases have been reported. Herein, we report a case of a 32-year-old man with rapidly progressive bilateral ptosis, dysphagia, spastic paraparesis, and voiding difficulty in whom Lyme disease was diagnosed through serologic tests for antibodies and Western blot testing. A urodynamic study demonstrated detrusor areflexia and bulbocavernosus reflex tests showed delayed latency, indicating demyelination at S2-S4 levels. He received a 4-week course of intravenous ceftriaxone (2 g/day. The patient has recovered from the bilateral ptosis and spastic paraparesis but still suffers from neurogenic bladder.

  11. Síndrome de Usher asociado a miastenia gravis y esquizofrenia Syndrome of Usher associated to miastenia gravis and schizophrenia

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    Francisca Santisteban Aguilera

    2009-04-01

    Full Text Available Se presenta el caso de un paciente atendido en el Hospital Provincial “Saturnino Lora” y el Centro de Retinosis Pigmentaria de Santiago de Cuba con características audiológicas, propias de una hipoacusia neurosensorial moderada, afecciones oftalmológicas, cansancio generalizado, disfagia, ptosis palpebral bilateral asimétrica con predominio en el lado izquierdo, afectación del oblicuo, del recto interno y ausencia del reflejo nauseoso, además de ideas delirantes y alucinaciones. Las alteraciones clínicas presentes en este enfermo hacen sospechar la asociación de un síndrome de Usher, con miastenia gravis y una esquizofrenia.The case of a patient attended at "Saturnino Lora" Provincial Hospital and at the Pigmentary Retinosis Center in Santiago de Cuba with audiology characteristics, moderate neurosensorial hypoacusia, ophthalmologic affections, generalized fatigue, dysphagia, asymmetric bilateral palpebral ptosis with prevalence in the left side, affection of the oblique muscle and of the internal rectum muscle and absence of the gag reflex, besides delusion and hallucinations is presented. The clinical changes in this patient make the suspect of an association of the Usher`s syndrome, with miastenia gravis and a schizophrenia.

  12. Unruptured aneurysms with cranial nerve symptoms: efficacy of endosaccular guglielmi detachable coil treatment

    International Nuclear Information System (INIS)

    Kim, Dong Joon; Kim, Dong Ik; Lee, Seung Koo; Kim, Si Yeon

    2003-01-01

    To evaluate the efficacy of endosaccular Guglielmi detachable coil (GDC) treatment of unruptured aneurysms causing cranial nerve (CN) symptoms. Among a database of 218 patients whose aneurysms were treated using GDC, seven patients met the criteria for unruptured aneurysms presenting with symptoms and signs of CN palsy. Changes in CN symptoms before and after GDC treatment were reviewed. Aneurysms were located in the internal carotid-posterior communicating artery (n=3), the basilar bifurcation (n=1) and the cavernous internal carotid artery (n=3). CN symptoms included ptosis (n=6), mydriasis (n=2), and extraocular muscle (EOM) disorder (CN III: n=4; CN VI: n=3). Overall, improvement or resolution of CN symptoms after treatment was noted in five patients. CN symptoms in cases involving small (10 mm) and intradural aneurysms tended to respond better to GDC treatment. Ptosis was the initial symptom to show improvement, while EOM dysfunction responded least favourably. GDC coil packing appears to be an appropriate treatment method for the relief of CN symptoms associated with intracranial aneurysms

  13. Presumed Isotretinoin-Induced, Concomitant Autoimmune Thyroid Disease and Ocular Myasthenia Gravis: A Case Report

    Directory of Open Access Journals (Sweden)

    Huseyin Gursoy

    2012-11-01

    Full Text Available Introduction: There are many adverse effects that have been described for isotretinoin. To the best of our knowledge, this is the first report of a possible association of oral isotretinoin intake with autoimmune thyroiditis and ocular myasthenia gravis (OMG. Case Presentation: A 19-year-old Caucasian male, who had used oral isotretinoin for severe acne disease for the previous six months, was referred to our clinic. He had a three-week history of diplopia and variable bilateral ptosis. Physical examination showed moderate periorbital edema and limitations of up- and down-gaze in the left eye. Laboratory findings and thyroid ultrasound were consistent with autoimmune thyroiditis. Antithyroid therapy did not relieve the clinical symptoms. Concomitant OMG was suspected. Variable ptosis and a positive response to oral prednisolone of 40 mg/day and pyridostigmine of 360 mg/day supported the diagnosis of concomitant autoimmune thyroiditis and OMG. Conclusion: Autoimmune disorders may be triggered by oral isotretinoin treatment. Clinicians prescribing isotretinoin should be aware of the possible association between isotretinoin intake and concomitant autoimmune thyroiditis and OMG.

  14. Coexistence of primary biliary cirrhosis and myasthenia gravis: a case study.

    Science.gov (United States)

    Horigome, H; Nomura, T; Saso, K; Joh, T; Ohara, H; Akita, S; Sobue, S; Mizuno, Y; Kato, Y; Itoh, M

    2000-01-01

    We present a case that suggests a relationship between primary biliary cirrhosis and myasthenia gravis. A 43-year-old Japanese woman was admitted to the Nagoya City University Medical School, First Department of Internal Medicine with abnormal liver function in August 1991. She had had ptosis of the right eye since 1990. She had not been treated for liver disease. Ptosis of the right eye and hepatomegaly were present. Serum laboratory examinations revealed elevated biliary enzymes and IgM levels; tests were positive for antimitochondrial antibody and antiacetylcholine antibody. Liver histology revealed chronic non-suppurative destructive cholangitis and led to a diagnosis of primary biliary cirrhosis. The tensilon test was positive. Electromyography with repetitive motor nerve stimulation revealed a neuromuscular junction defect; i.e., the primary characteristic of myasthenia gravis. The patient was diagnosed with myasthenia gravis. Although the development of myasthenia gravis has previously been reported in patients with primary biliary cirrhosis during D-penicillamine administration, this is a very rare case of the coexistence of both diseases before such treatment.

  15. De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

    Science.gov (United States)

    Reijnders, Margot R F; Miller, Kerry A; Alvi, Mohsan; Goos, Jacqueline A C; Lees, Melissa M; de Burca, Anna; Henderson, Alex; Kraus, Alison; Mikat, Barbara; de Vries, Bert B A; Isidor, Bertrand; Kerr, Bronwyn; Marcelis, Carlo; Schluth-Bolard, Caroline; Deshpande, Charu; Ruivenkamp, Claudia A L; Wieczorek, Dagmar; Baralle, Diana; Blair, Edward M; Engels, Hartmut; Lüdecke, Hermann-Josef; Eason, Jacqueline; Santen, Gijs W E; Clayton-Smith, Jill; Chandler, Kate; Tatton-Brown, Katrina; Payne, Katelyn; Helbig, Katherine; Radtke, Kelly; Nugent, Kimberly M; Cremer, Kirsten; Strom, Tim M; Bird, Lynne M; Sinnema, Margje; Bitner-Glindzicz, Maria; van Dooren, Marieke F; Alders, Marielle; Koopmans, Marije; Brick, Lauren; Kozenko, Mariya; Harline, Megan L; Klaassens, Merel; Steinraths, Michelle; Cooper, Nicola S; Edery, Patrick; Yap, Patrick; Terhal, Paulien A; van der Spek, Peter J; Lakeman, Phillis; Taylor, Rachel L; Littlejohn, Rebecca O; Pfundt, Rolph; Mercimek-Andrews, Saadet; Stegmann, Alexander P A; Kant, Sarina G; McLean, Scott; Joss, Shelagh; Swagemakers, Sigrid M A; Douzgou, Sofia; Wall, Steven A; Küry, Sébastien; Calpena, Eduardo; Koelling, Nils; McGowan, Simon J; Twigg, Stephen R F; Mathijssen, Irene M J; Nellaker, Christoffer; Brunner, Han G; Wilkie, Andrew O M

    2018-06-07

    Next-generation sequencing is a powerful tool for the discovery of genes related to neurodevelopmental disorders (NDDs). Here, we report the identification of a distinct syndrome due to de novo or inherited heterozygous mutations in Tousled-like kinase 2 (TLK2) in 38 unrelated individuals and two affected mothers, using whole-exome and whole-genome sequencing technologies, matchmaker databases, and international collaborations. Affected individuals had a consistent phenotype, characterized by mild-borderline neurodevelopmental delay (86%), behavioral disorders (68%), severe gastro-intestinal problems (63%), and facial dysmorphism including blepharophimosis (82%), telecanthus (74%), prominent nasal bridge (68%), broad nasal tip (66%), thin vermilion of the upper lip (62%), and upslanting palpebral fissures (55%). Analysis of cell lines from three affected individuals showed that mutations act through a loss-of-function mechanism in at least two case subjects. Genotype-phenotype analysis and comparison of computationally modeled faces showed that phenotypes of these and other individuals with loss-of-function variants significantly overlapped with phenotypes of individuals with other variant types (missense and C-terminal truncating). This suggests that haploinsufficiency of TLK2 is the most likely underlying disease mechanism, leading to a consistent neurodevelopmental phenotype. This work illustrates the power of international data sharing, by the identification of 40 individuals from 26 different centers in 7 different countries, allowing the identification, clinical delineation, and genotype-phenotype evaluation of a distinct NDD caused by mutations in TLK2. Copyright © 2018 The Authors. Published by Elsevier Inc. All rights reserved.

  16. Further delineation of the KAT6B molecular and phenotypic spectrum.

    LENUS (Irish Health Repository)

    Gannon, Tamsin

    2015-09-01

    KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes (SBBS) and in the more severe genitopatellar syndrome (GPS). We report on the findings in a previously unreported group of 57 individuals with suggestive features of SBBS or GPS. Likely causative variants have been identified in 34\\/57 patients and were commonly located in the terminal exons of KAT6B. Of those where parental samples could be tested, all occurred de novo. Thirty out of thirty-four had truncating variants, one had a missense variant and the remaining three had the same synonymous change predicted to affect splicing. Variants in GPS tended to occur more proximally to those in SBBS patients, and genotype\\/phenotype analysis demonstrated significant clinical overlap between SBBS and GPS. The de novo synonymous change seen in three patients with features of SBBS occurred more proximally in exon 16. Statistical analysis of clinical features demonstrated that KAT6B variant-positive patients were more likely to display hypotonia, feeding difficulties, long thumbs\\/great toes and dental, thyroid and patella abnormalities than KAT6B variant-negative patients. The few reported patients with KAT6B haploinsufficiency had a much milder phenotype, though with some features overlapping those of SBBS. We report the findings in a previously unreported patient with a deletion of the KAT6B gene to further delineate the haploinsufficiency phenotype. The molecular mechanisms giving rise to the SBBS and GPS phenotypes are discussed.

  17. Doble parálisis de los elevadores y su comportamiento clínico-quirúrgico en Ciudad de La Habana, Cuba Double elevador palsy and its clinical surgical behavior in the City of Havana, Cuba

    Directory of Open Access Journals (Sweden)

    Teresita de Jesús Méndez Sánchez

    2009-12-01

    Full Text Available OBJETIVO: Describir los resultados clínico-quirúrgicos de los pacientes con doble parálisis de los elevadores. MÉTODOS: Se realizó un estudio descriptivo retrospectivo a 16 pacientes que acudieron al servicio de oftalmología pediátrica y estrabismo del Instituto Cubano de Oftalmología "Ramón Pando Ferrer", desde septiembre de 2004 hasta septiembre de 2006, en el que se analizaron las siguientes variables: etiología, motilidad ocular, ausencia de signo de Bell, ptosis o pseudoptosis palpebral, resultados de la técnica quirúrgica aplicada. La técnica utilizada fue la transposición completa de los rectos horizontales al recto superior. RESULTADOS: La etiología fue congénita en todos los pacientes. El 100 % de la muestra presentó hipotropía en posición primaria de mirada con marcada limitación de la elevación activa, tanto en aducción como abducción, con elevación del mentón y signo de Bell ausente. El 62,5 presentaba pseudoptosis y el 37,5 ptosis. Alcanzaron ortotropia 14 pacientes y dos quedaron con hipotropía menor de 15 dioptrías prismáticas. CONCLUSIONES: Se obtuvieron buenos resultados quirúrgicos en casi la totalidad de los pacientes.OBJECTIVE: To describe the clinical surgical outcomes of patients with double elevator palsy. METHODS: A retrospective descriptive study of 16 patients, who went to the ophthalmologic pediatric strabismus service at "Ramón Pando Ferrer" Cuban Institute of Ophthalmology from September 2004 to September 2006, was carried out based on the following variables: etiology, ocular motility, lack of Bell´s sign, palpebral pstosis or pseudoptosis, and results of the applied surgical technique. The surgical method was the complete transposition of horizontal recti to upper rectus. RESULTS: There was congenital etiology in all the patients. The whole sample presented with hypotropia in the primary position of the look, with significant restriction of active elevation both in adduction and

  18. Dopamine-independent locomotor actions of amphetamines in a novel acute mouse model of Parkinson disease.

    Directory of Open Access Journals (Sweden)

    2005-08-01

    Full Text Available Brain dopamine is critically involved in movement control, and its deficiency is the primary cause of motor symptoms in Parkinson disease. Here we report development of an animal model of acute severe dopamine deficiency by using mice lacking the dopamine transporter. In the absence of transporter-mediated recycling mechanisms, dopamine levels become entirely dependent on de novo synthesis. Acute pharmacological inhibition of dopamine synthesis in these mice induces transient elimination of striatal dopamine accompanied by the development of a striking behavioral phenotype manifested as severe akinesia, rigidity, tremor, and ptosis. This phenotype can be reversed by administration of the dopamine precursor, L-DOPA, or by nonselective dopamine agonists. Surprisingly, several amphetamine derivatives were also effective in reversing these behavioral abnormalities in a dopamine-independent manner. Identification of dopamine transporter- and dopamine-independent locomotor actions of amphetamines suggests a novel paradigm in the search for prospective anti-Parkinsonian drugs.

  19. Management of cluster headache

    DEFF Research Database (Denmark)

    Tfelt-Hansen, Peer C; Jensen, Rigmor H

    2012-01-01

    The prevalence of cluster headache is 0.1% and cluster headache is often not diagnosed or misdiagnosed as migraine or sinusitis. In cluster headache there is often a considerable diagnostic delay - an average of 7 years in a population-based survey. Cluster headache is characterized by very severe...... or severe orbital or periorbital pain with a duration of 15-180 minutes. The cluster headache attacks are accompanied by characteristic associated unilateral symptoms such as tearing, nasal congestion and/or rhinorrhoea, eyelid oedema, miosis and/or ptosis. In addition, there is a sense of restlessness...... and agitation. Patients may have up to eight attacks per day. Episodic cluster headache (ECH) occurs in clusters of weeks to months duration, whereas chronic cluster headache (CCH) attacks occur for more than 1 year without remissions. Management of cluster headache is divided into acute attack treatment...

  20. Foodborne botulinum type E intoxication associated with dried bean curd: first case report in Taiwan.

    Science.gov (United States)

    Lai, Lung-Shiang; Wang, Yi-Mei; Lin, Chin-Hsien

    2011-06-01

    Botulism type E intoxication is a rare condition among human botulism. We aim to describe a first case of botulism type E intoxication in Taiwan. We report a 36-year-old young man with foodborne botulism type E associated with commercially vacuum packaged dried bean curd. He developed bilateral ptosis, diplopia and dysphagia 4 days after taking the dried bean curd. Electrophysiologic findings demonstrated waxing responses to 3 Hz repetitive nerve stimulation and decreased compound muscle action potentials on peripheral nerve conduction study. A bioassay for botulism in mice demonstrated that the patient had botulism caused by type E botulinum toxin. Antibodeis to C. botulinum type E were identified from his serum, confirming the diagnosis. This is the first known case of foodborne type E botulism in Taiwan. The potential source of this foodborne botulism should consider contaminated food made of soy beans.

  1. Treatment of hemifacial spasm with botulinum A toxin. Results and rationale.

    Science.gov (United States)

    Gonnering, R S

    1986-01-01

    Hemifacial spasm is characterized by unilateral, periodic, tonic contractions of facial muscles, thought to be caused by mechanical compression at the root-exit zone of the facial nerve. Electrophysiologic abnormalities such as ectopic excitation and synkinesis are typical. Although posterior fossa microsurgical nerve decompression is successful in bringing about relief of the spasm in most cases, it carries a risk to hearing. As an alternative treatment, 15 patients with hemifacial spasm were given a total of 41 sets of injections with botulinum A toxin, with a mean follow-up of 14.3 +/- 1.1 months. Relief of symptoms lasted a mean of 108.3 +/- 4.2 days. Mild transient lagophthalmos and ptosis were the only complications. Although the exact mechanism of its action and beneficial effect is speculative at this time, botulinum A toxin appears to offer an effective, safe alternative to more radical intracranial surgery for patients with hemifacial spasm.

  2. Suppurative dacroadenitis causing ocular sicca syndrome in classic Wegener′s granulomatosis

    Directory of Open Access Journals (Sweden)

    Khanna Dhanita

    2011-01-01

    Full Text Available Wegener′s granulomatosis (WG is a multisystem vasculitic disorder which can commonly afflict various components of the eye. Here we describe some unusual ocular manifestations of the disease in one patient. A young male with history of upper respiratory tract symptoms including epistaxis, nasal stuffiness and maxillary sinus pain presented with bilateral lacrimal gland abscess and ptosis. Lacrimal gland biopsy revealed granulomatous vasculitis. Lung cavities, positive cytoplasmic-antineutrophil cytoplasmic antibodies and high titers of serine proteinase-3 antibodies confirmed the diagnosis of WG. The patient developed dry eyes after a month of first presentation. There was no dryness of mouth, suggesting the absence of salivary gland involvement, and antinuclear antibodies as well as antibodies against Ro and La antigens classical of primary Sjogren′s syndrome were absent. Granulomatous vasculitis of lacrimal gland leading to abscess formation and dryness of eyes has not been described in WG and reflects the aggressive nature of inflammatory process in this disease.

  3. Kearns-Sayre syndrome

    Directory of Open Access Journals (Sweden)

    Kavita R Bhatnagar

    2014-01-01

    Full Text Available Kearns-Sayre syndrome (KSS is a rare neuromuscular disorder. We report a case of a 14-year-old boy diagnosed and treated as myasthenia gravis for (4 years who was eventually diagnosed with KSS. He reported to us 3 years after initial presentation of mild drooping of eyelids with increased severity of ptosis, bilateral external ophthalmoplegia, and atypical retinitis pigmentosa. On multispecialty consultation, he was found to have right bundle branch block, wasting and weakness of limb muscles, and hearing loss. Sartorius muscle biopsy revealed ragged red fibres on trichrome stain. All these findings confirmed the diagnosis of Kearns-Sayre Syndrome (KSS. The take home message is to have a high index of suspicion for KSS when encountering cases of musculoskeletal disorders in subjects below 20 years of age in view of high morbidity and mortality associated with this syndrome.

  4. Elevator Muscle Anterior Resection: A New Technique for Blepharoptosis.

    Science.gov (United States)

    Zigiotti, Gian Luigi; Delia, Gabriele; Grenga, Pierluigi; Pichi, Francesco; Rechichi, Miguel; Jaroudi, Mahmoud O; d'Alcontres, Francesco Stagno; Lupo, Flavia; Meduri, Alessandro

    2016-01-01

    Blepharoptosis is a condition of inadequate upper eyelid position, with a downward displacement of the upper eyelid margin resulting in obstruction of the superior visual field. Levator resection is an effective technique that is routinely used to correct aponeurotic ptosis. The anterior levator resection is the procedure of choice in moderate blepharoptosis when there is moderate to good levator muscle function, furthermore, with an anterior approach, a greater resection can be achieved than by a conjunctival approach. The authors describe a modification in the Putterman technique with a resection done over a plicated elevator, plication that was suggested by Mustardè. The technique has been named as elevator muscle anterior resection. The elevator muscle anterior resection inspires from the Fasanella-Servat operation by the use of a clamp, making the operation simple and predictable.

  5. Cavernous sinus thrombophlebitis related to dental infection--two case reports.

    Science.gov (United States)

    Okamoto, Hiroaki; Ogata, Atsushi; Kosugi, Masafumi; Takashima, Hiroshi; Sakata, Shuji; Matsushima, Toshio

    2012-01-01

    Two cases of cavernous sinus thrombophlebitis (CST) caused by dental infection are described. A 64-year-old woman presented with palsies of the left oculomotor and trochlear nerves after tooth extraction for dental caries in the left maxilla. A 54-year-old man presented with palsy of the left trochlear nerve, sensory disturbance in the ophthalmic and maxillary divisions of the left trigeminal nerve, ptosis, proptosis, and chemosis after dental treatment for caries and periodontitis in the left maxilla. In both patients, computed tomography and magnetic resonance imaging with contrast medium showed non-enhanced lesions within the left cavernous sinus and dilation of the superior ophthalmic veins, which indicated CST. These conditions were resolved by administration of broad-spectrum antibiotics. CST is rare but lethal, so prompt diagnosis is crucial, and immediate appropriate treatment is essential.

  6. Anti-musk positive myasthenia gravis and three semiological cardinal signs

    Directory of Open Access Journals (Sweden)

    André P.C. Matta

    2017-01-01

    Full Text Available Myasthenia gravis (MG is a relatively uncommon disorder with an annual incidence of approximately 7 to 9 new cases per million. The prevalence is about 70 to 165 per million. The prevalence of the disease has been increasing over the past five decades. This is thought to be due to better recognition of the condition, aging of the population, and the longer life span of affected patients. MG causes weakness, predominantly in bulbar, facial, and extra-ocular muscles, often fluctuating over minutes to weeks, in the absence of wasting, sensory loss, or reflex changes. The picture of fluctuating, asymmetric external ophthalmoplegia with ptosis and weak eye closure is virtually diagnostic of myasthenia. We report an atypical MG case with three semiological cardinal signs.

  7. Extraocular myositis in a female puppy

    Directory of Open Access Journals (Sweden)

    O. Adegboye

    2015-04-01

    Full Text Available Extraocular myositis (EOM is not commonly encountered in dogs. It is generally diagnosed based on clinical features of exophthalmos without third eyelid protrusion, pain or vision loss. The traditional treatment of choice is prednisolone. This report describes a case of a mixed-breed puppy with clinical signs consistent with EOM, the use of ascorbic acid as an adjuvant to traditional corticosteroid therapy and rapid resolution of the condition without recurrence. It also shows that prolapse of the third eyelid and ptosis of the lower eyelids are possible signs of EOM during recovery. This is the first report of this sort from Africa and therefore the report is of epidemiological significance.

  8. A Case of Horner's Syndrome following Ultrasound-Guided Infraclavicular Brachial Plexus Block.

    Science.gov (United States)

    Walid, Trabelsi; Mondher, Belhaj Amor; Mohamed Anis, Lebbi; Mustapha, Ferjani

    2012-01-01

    Horner's syndrome results from paralysis of the ipsilateral sympathetic cervical chain (stellate ganglion) caused by surgery, drugs (mainly high concentrations of local anesthetics), local compression (hematoma or tumor), or inadequate perioperative positioning of the patient. It occurs in 100% of the patients with an interscalene block of the brachial plexus and can also occur in patients with other types of supraclavicular blocks.In this case report, we presented a case of Horner's syndrome after performing an ultrasound-guided infraclavicular brachial plexus block with 15 mL of bupivacaine 0.5%. It appeared 40 minutes after the block with specific triad (ptosis, miosis, and exophtalmia) and quickly disappears within 2 hours and a half without any sequelae. Horner's syndrome may be described as an unpleasant side effect because it has no clinical consequences in itself. For this reason anesthesiologists should be aware of this syndrome, and if it occurs patients should be reassured and monitored closely.

  9. [Botulinum toxin: An important complement for facial rejuvenation surgery].

    Science.gov (United States)

    Le Louarn, C

    2017-10-01

    The improved understanding of the functional anatomy of the face and of the action of the botulinum toxin A leads us to determine a new injection procedure which consequently decreases the risk of eyebrow and eyelid ptosis and increases the toxin's injection possibilities and efficiencies. With less units of toxin, the technique herein described proposes to be more efficient on more muscles: variable toxin injections concentration adapted to each injected muscle are used. Thanks to a new procedure in the upper face, toxin A injection can be quite close to an endoscopic surgical action. In addition, interesting results are achievable to rejuvenate the lateral canthus with injection on the upper lateral tarsus, to rejuvenate the nose with injection at the alar base, the jawline and the neck region. Lastly, a smoothing effect on the skin (meso botox) is obtained by the anticholinergic action of the toxin A on the dermal receptors. Copyright © 2017. Published by Elsevier Masson SAS.

  10. Reinforced orbitotemporal lift: contribution to midface rejuvenation.

    Science.gov (United States)

    Renó, Waldir Teixeira

    2003-02-01

    The changes in the aging face occur from progressive ptosis of the skin, fat, and muscle, in conjunction with bone absorption and cartilage atrophy. In the orbital region, hollowness and compartmentalization occur. Conventional face lift procedures correct only the skin flaccidity, and superficial musculoaponeurotic system techniques reposition the skin and platysma without repositioning the middle third of the face, creating an artificial jawline. Subperiosteal rhytidectomy disrupts the anatomy of the periorbita, which gives the patient a certain scarecrow aspect. Composite rhytidectomy associated with brow lift and blepharoplasty may offer better results, with improvement in the malar and orbital regions. The reinforced orbitotemporal lift (ROTEL) is a new procedure in a face lift that allows the orbicularis oculi muscle and all the structures connected to it to be elevated and stretched and the orbitotemporal skin to be raised, repositioning these structures and ending orbital compartmentalization. The result is an impressive improvement in the malar-orbitotemporal region, resulting in a natural and youthful appearance.

  11. Kearns-Sayre syndrome "plus": classical clinical findings and dystonia

    Directory of Open Access Journals (Sweden)

    MARIE SUELY K.NAGAHASHI

    1999-01-01

    Full Text Available We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia. The skeletal muscle biopsy demonstrated ragged red fibers, cytochrome C oxidase-negative and succinate dehydrogenase-positive fibers. The magnetic resonance imaging showed symmetrical signal alteration in tegmentum of brain stem, pallidum and thalamus. Mitochondrial DNA analysis from skeletal muscle showed a deletion in heteroplasmic condition. The association of dystonia to KSS, confirmed by molecular analysis, is first described in this case, and the importance of oxidative phosphorylation defects in the physiopathogenesis of this type of movement disorder is stressed.

  12. A CASE OF CHRONIC SPHENOIDITIS WITH NEUROLOGIC AND OPHTHALMOLOGIC COMPLICATIONS

    Directory of Open Access Journals (Sweden)

    M. Yu. Bobylova

    2012-01-01

    Full Text Available A case of chronic sphenoidal sinusitis in a girl of 9 years old is proposed; in clinical picture oculomotor dysfunction occurred (ptosis, strabismus divergent, diplopia, epiphora. The condition was masked by neurological symptoms, and so initial differential diagnosis was between 1 ocular form of myopathy (including mitochondrial diseases, 2 ocular form of myasthenia and 3 onset of multiple sclerosis. The definite diagnosis «pansinusitis» was proposed by neurologist only after attentive analysis of clinical symptoms and data of MRI, only since 1,5 year after beginning of the disease. This clinical case demonstrates the complexity of differential diagnosis of chronic sphenoidal sinusitis in children and necessity of developed clinical thinking for a doctor of every speciality

  13. Unusual Horner's syndrome in recurrent breast cancer: Evaluating using {sup 18}F-FDG PET/CT

    Energy Technology Data Exchange (ETDEWEB)

    Park, So Hyun; Kim, Tae Sung; Kim, Seok Ki [Dept. of Nuclear Medicine, National Cancer Center, Goyang (Korea, Republic of)

    2017-03-15

    {sup 18}F-fluorodeoxyglucose (FDG) positron emission tomography/computed tomography (PET/CT) is a widely used imaging modality in the initial diagnosis of cancer, treatment response evaluation and detection of recurrence. Herein, we present the case of a 39-year-old female who presented right ptosis on the follow-up of breast cancer after surgery. Clinicians suspected Horner's syndrome, and the patient underwent FDG PET/CT for the evaluation of recurrence that could cause Horner's syndrome. FDG PET/CT demonstrated a focal hypermetabolic lesion in the right cervicothoracic junction area, corresponding to the preganglionic cervical sympathetic trunk. A subsequent needle biopsy was done, and the lesion was confirmed as metastatic ductal carcinoma. In this case, we could detect the exact location of the recurring lesion that caused Horner's syndrome using FDG PET/CT.

  14. Prevention and treatment of complications for thyroid-arterial embolization

    International Nuclear Information System (INIS)

    Yang Jijin; Yuan Min; Tian Jianming; Chen Wei; Yang Chaoai; Hao Qiang; Zou Dajing; Wang Yongchun

    2003-01-01

    Objective: To investigate the complications of thyroid-arterial embolization and their prevention and treatment. Methods: 61 cases of thyroid disorders received the therapy of thyroid-arterial embolization were retrospectively studied. The complications of arterial embolization during or after the procedure were analyzed. How to prevent and deal with these complications were discussed. Results: Sensitivity to contrast media occurred in 1 case and surgical arterial injury in 2. After embolization thyroid storm occurred in 1 patient and all other complications including headache (23 cases), toothache (11 cases), neckache (13 cases), hoarseness (37 cases) were caused by non-target arterial embolization with the most serious one of cerebral infarction (1 case) and another eyelid ptosis (1 case). The cerebral infarct one was treated with some vasodilating drugs and anti-coagulant, all others were given anti-symptomatics or no special treatment. Conclusions: Proper treatment should be ready during thyroid arterial embolization and given in time with occurrence of complications

  15. Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy

    DEFF Research Database (Denmark)

    Citirak, Gülsenay; Witting, Nanna; Duno, Morten

    2014-01-01

    , two related female patients and two sporadic, male patients were found to carry mutations in the tropomyosin 2 (TPM2) and tropomyosin 3 (TPM3) genes, respectively. This indicates a low (4.3%) frequency of TPM2 and TPM3 mutations as a cause of congenital myopathy. Compared to previously described...... patients carrying the same mutations as found in our study (c.503G>A, and c.502C>T in TPM3, and c.415_417delGAG in TPM2), clinical presentation and muscle morphological findings differed in our patients. Differences included variation in distribution of muscle weakness, presence of scoliosis and ptosis...... had nemaline myopathy and fiber size disproportion, while three patients had congenital fiber type disproportion (CFTD) on muscle biopsies. TPM2-related CFTD has only been described in two cases, indicating that mutations in TPM2 are rare causes of CFTD....

  16. Treatment of unilateral giant fibroadenoma by breast reduction skin incision: the inverted "T" technique.

    Science.gov (United States)

    Achebe, J U; Njeze, G E; Okwesili, O R

    2014-01-01

    Giant fibroadenoma (GFA) has been defined as fibroadenoma greater than 5 cm in it's the widest diameter and/or weighing more than 500 g. A benign lesion, its size also raises the possibility of malignancy requiring differentiation from a malignant breast disease. When unilateral GFA presents with a severe breast asymmetry, due to its size, it is not correctable by simple enucleation alone. Postoperative asymmetry from volume and ptosis disparity results, which needs to be addressed at the primary surgery. The inverted "T" technique, which is effective in volume reduction and ptosis correction in breast hypertrophy, can be applied in the treatment of unilateral GFA. This is a retrospective review of all GFA treated by inverted "T" method. A retrospective review was carried out on all patients with GFA treated by inverted "T" skin pattern method over a period of 20 years (January 1988 to December 2007). The procedures were carried out at the University of Nigeria Teaching Hospital and the National Orthopedic Hospital, Enugu. Information, which included patients' demographics, pre-operative assessment, operative findings and outcome of surgery were obtained from the case files of the patients. The degree of ptosis was recorded for each patient. Diagnosis of GFA was made after clinical evaluation and pre-operative tissue biopsy. Immediate results of treatment were based on the patients' satisfaction, visual assessment of symmetry of size of breasts, correction of ptosis and position of nipple areola complex (NAC). A total of 27 patients underwent inverted "T" technique for excision of GFA in their breasts. Their average age was 17.5 years (range 12-25 years) delay in presentation ranged from 2 months to 15 months. In 16 patients (59.2%), the left breast was involved in GFA whilst the tumor occurred on the right breast in 11 (40.7%). The tumor weighed on the average 1500 g (range 655-2200 g). Average diameter of the tumor was 15 cm (range 12-20 cm). All quadrants of the

  17. Facial nerve ganglioneuroblastoma in a feline leukemia virus-positive cat

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    Paula Reis Pereira

    Full Text Available ABSTRACT: Neuroblastic tumors can originate from the central neuraxis, olfactory epithelium, adrenal medullary region or autonomous system. Ganglioneuroblastoma are a type of neuroblastic tumor, with very few case descriptions in animals. Diagnosis of facial nerve ganglioneuroblastoma was made in a feline leukemia virus-positive 11-month-old cat. The cat had hyporexia, left head tilt, depressed mental state, horizontal nystagmus, inability to retract the pinched left lip, anisocoria, ptosis, and absence of the menace reflex. Gross necropsy showed a mass at the left facial nerve root region. Histological examination of this mass showed neoplastic proliferation of neuroblasts arranged in a cohesive pattern and mature ganglion cells. Ganglion cells were positive for neurofilament, neuron-specific enolase, S100, and glial fibrillary acidic protein by immunohistochemistry, while neuroblasts were positive for vimentin, S100, neuron-specific enolase and feline leukemia virus.

  18. Case Report: Ocular Myasthenia Gravis Associated with In Vitro Fertilization Procedures.

    Science.gov (United States)

    Yoo, Yung Ju; Han, Sang Beom; Yang, Hee Kyung; Hwang, Jeong-Min

    2018-05-01

    Ocular myasthenia gravis is a localized form of myasthenia gravis, which is a postsynaptic disorder of the neuromuscular junction that causes fluctuating weakness of extraocular muscles resulting from autoimmune mechanisms. In women with myasthenia, changes in sex hormone levels and administration of corticosteroids can trigger or worsen symptoms of myasthenia gravis. To describe a case of seronegative ocular myasthenia gravis whose first symptom appeared a day after in vitro fertilization procedure. A 37-year-old woman suddenly developed mild ptosis and fluctuating diplopia that worsened in the evening. Before the development of symptoms, she had undergone in vitro fertilization procedure and had taken oral steroids. Ocular motility examination revealed an intermittent exotropia in primary gaze at both distance and near. The neostigmine test confirmed her diagnosis as ocular myasthenia gravis. When taking a history for young women with sudden onset of binocular diplopia, steroids and sex hormones should be taken into account, which may trigger or exacerbate symptoms of ocular myasthenia gravis.

  19. Otitis complicated by Jacod's syndrome with unusal facial nerve involvement: Case report and review of literature.

    Science.gov (United States)

    Abdulkadir, Kocer; Buket, Sanlisoy; Dilek, Agircan; Munevver, Okay; Ayse, Aralasmak

    2015-04-01

    Otitis media is a well-known condition and its infra-temporal and intracranial complications are extremely rare because of the widespread usage of antibiotic treatment. We report a case of 63-year-old female with complaints of right-sided facial pain and diplopia. She had a history of acute otitis media before 4 months of admission to our neurology unit. Neurological examination showed that total ophthalmoplegia with ptosis, mydriasis, decreased vision and loss of pupil reflex on the right side. In addition, there was involvement of 5th and 7th cranial nerves. Neurological and radiological follow-up examinations demonstrated Jacod's Syndrome with unusual facial nerve damage and infection in aetiology. Sinusitis is the most common aetiology, but there are a few cases reported Jacod's Syndrome originating from otitis media.

  20. Tear function and ocular surface after Muller muscle-conjunctival resection.

    Science.gov (United States)

    Uğurbaş, Suat Hayri; Alpay, Atilla; Bahadır, Burak; Uğurbaş, Sılay Cantürk

    2014-05-01

    Muller muscle-conjunctival resection (MCR) is a surgical technique to correct mild and moderate ptosis. In this study, tear function tests and ocular surface are evaluated in patients who underwent unilateral surgery. Sixteen patients with normal preoperative tear function who underwent unilateral MCR were evaluated prospectively. The fellow eyes of the patients were taken as the control group. A dry eye assessment questionnaire, Schirmer testing, tear film break-up time, fluorescein stain, Rose-Bengal stain, and conjunctival impression cytology were used to assess the tear film functions and ocular surface changes in the operated and non-operated eyes. There was no statistically significant difference in the tear function tests and goblet cell densities between the operated and non-operated eyes. The results indicate that an MCR procedure has no apparent effect on tear function tests and goblet cell density in patients with normal preoperative tear function.

  1. Hepatocellular carcinoma metastasizing to the skull base involving multiple cranial nerves.

    Science.gov (United States)

    Kim, Soo Ryang; Kanda, Fumio; Kobessho, Hiroshi; Sugimoto, Koji; Matsuoka, Toshiyuki; Kudo, Masatoshi; Hayashi, Yoshitake

    2006-11-07

    We describe a rare case of HCV-related recurrent multiple hepatocellular carcinoma (HCC) metastasizing to the skull base involving multiple cranial nerves in a 50-year-old woman. The patient presented with symptoms of ptosis, fixation of the right eyeball, and left abducens palsy, indicating disturbances of the right oculomotor and trochlear nerves and bilateral abducens nerves. Brain contrast-enhanced computed tomography (CT) revealed an ill-defined mass with abnormal enhancement around the sella turcica. Brain magnetic resonance imaging (MRI) disclosed that the mass involved the clivus, cavernous sinus, and petrous apex. On contrast-enhanced MRI with gadolinium-chelated contrast medium, the mass showed inhomogeneous intermediate enhancement. The diagnosis of metastatic HCC to the skull base was made on the basis of neurological findings and imaging studies including CT and MRI, without histological examinations. Further studies may provide insights into various methods for diagnosing HCC metastasizing to the craniospinal area.

  2. Surgical management of advanced ocular adnexal amyloidosis.

    Science.gov (United States)

    Patrinely, J R; Koch, D D

    1992-06-01

    Ocular adnexal amyloidosis is characterized by amyloid deposition within the deep connective tissue layers of the eyelids, conjunctiva, and anterior orbit. Management of advanced cases has traditionally been unsatisfactory, with either no surgery offered because of fear of hemorrhage or an en bloc resection performed of the entire involved area. We present two cases of advanced periorbital amyloidosis successfully managed by preserving the anatomic planes of the eyelids and meticulously debulking the deposits with a spooned curette. Lax eyelid tendons and aponeuroses were simultaneously repaired, and no sacrifice of eyelid tissues was necessary. One patient remained asymptomatic for 2 years after surgery before developing early reaccumulation in the lower eyelids. The other patient required additional eyelid debulking and ptosis revision 8 months after surgery, but was in stable condition at follow-up 2 years after surgery. This technique offers safe, easily repeatable, nondestructive treatment for advanced periocular amyloidosis.

  3. Unilateral Vision Loss after a Dental Visit

    Science.gov (United States)

    Khattab, Mohammed H.; Wiegand, Annette; Storch, Marcus; Hoerauf, Hans; Feltgen, Nicolas

    2018-01-01

    Intraoral local anesthetics are widely used for performing painless dental treatments; however, in some cases, they may cause ocular complications such as meiosis, diplopia, nystagmus, ophthalmoplegia, ptosis, and amaurosis. Mostly, the symptoms disappear after several hours; rarely, they have a prolonged character. We describe the case of a 38-year-old young man who had reduced vision in the left eye 5 days after having received intraoral local anesthesia. A diagnosis of cilioretinal artery occlusion with optic disc swelling was made. Ten weeks later, the patient's visual acuity had increased to 20/20, and the swelling of the optic disc had subsided. Although various possible mechanisms for ocular complications after intraoral local anesthetic administration were suggested in the literature, the exact etiology remains unclear. In this case, inadvertent intravascular injection is believed to be the cause. PMID:29681838

  4. Neuropharmacological profile of ethnomedicinal plants of Guatemala.

    Science.gov (United States)

    Morales Cifuentes, C; Gómez-Serranillos, M P; Iglesias, I; Villar del Fresno, A M; Morales, C; Paredes, M E; Cáceres, A

    2001-08-01

    We carried out the Irwin's test with some different extracts of the aerial parts of Thidax procumbens L., the leaves of Neurolaena lobata (L.) R. Br., bark and leaves of Byrsonima crassifolia (L.) Kunth. and Gliricidia sepium Jacq. Walp., and root and leaves of Petiveria alliacea L. At dosage of 1.25 g dried plant/kg weight aqueous extracts of bark and leaves of Byrsonima crassifolia (L.) Kunth. and Gliricidia sepium Jacq. Walp. demonstrated the most activity: decrease in motor activity, back tonus, reversible parpebral ptosis, catalepsy and strong hypothermia. These extracts of both plants were assayed for effects on CNS and they caused very significant reductions in spontaneous locomotor activity, exploratory behavior and rectal temperature and they increased the sodium pentobarbital-induced sleeping time.

  5. Pattern Dystrophy of the Macula in a Case of Steinert Disease

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    Filipe Esteves

    2013-09-01

    Full Text Available Introduction: Myotonic dystrophies are typically associated with ocular complications like ptosis, weakness of the ocular muscle and cataracts, but also with less recognized retinal changes. Case Report: A 41-year-old female with type 1 myotonic dystrophy complained of progressive vision loss. Slit lamp examination revealed the presence of typical bilateral polychromatic cataract with posterior subcapsular component. Dilated fundus examination was remarkable for bilateral macular depigmented changes. Multimodal imaging analysis of the macula suggested the presence of a butterfly-shaped pattern dystrophy. Discussion: In cases of myotonic dystrophies it is of great relevance to analyze the presence of retinal changes that might limit the visual improvement following cataract extraction.

  6. Amblyopia treatment strategies and new drug therapies.

    Science.gov (United States)

    Pescosolido, Nicola; Stefanucci, Alessio; Buomprisco, Giuseppe; Fazio, Stefano

    2014-01-01

    Amblyopia is a unilateral or bilateral reduction of visual acuity secondary to abnormal visual experience during early childhood. It is one of the most common causes of vision loss and monocular blindness and is commonly associated with strabismus, anisometropia, and visual deprivation (in particular congenital cataract and ptosis). It is clinically defined as a two-line difference of best-corrected visual acuity between the eyes. The purpose of this study was to understand the neural mechanisms of amblyopia and summarize the current therapeutic strategies. In particular, the authors focused on the concept of brain plasticity and its implication for new treatment strategies for children and adults with amblyopia. Copyright 2014, SLACK Incorporated.

  7. Hepatocellular carcinoma metastasizing to the skull base involving multiple cranial nerves

    Institute of Scientific and Technical Information of China (English)

    Soo Ryang Kim; Fumio Kanda; Hiroshi Kobessho; Koji Sugimoto; Toshiyuki Matsuoka; Masatoshi Kudo; Yoshitake Hayashi

    2006-01-01

    We describe a rare case of HCV-related recurrent multiple hepatocellular carcinoma (HCC) metastasizing to the skull base involving multiple cranial nerves in a 50-yearold woman. The patient presented with symptoms of ptosis, fixation of the right eyeball, and left abducens palsy, indicating disturbances of the right oculomotor and trochlear nerves and bilateral abducens nerves. Brain contrast-enhanced computed tomography (CT) revealed an ill-defined mass with abnormal enhancement around the sella turcica. Brain magnetic resonance imaging (MRI)disclosed that the mass involved the clivus, cavernous sinus, and petrous apex. On contrast-enhanced MRI with gadolinium-chelated contrast medium, the mass showed inhomogeneous intermediate enhancement.The diagnosis of metastatic HCC to the skull base was made on the basis of neurological findings and imaging studies including CT and MRI, without histological examinations. Further studies may provide insights into various methods for diagnosing HCC metastasizing to the craniospinal area.

  8. Botulinum toxin for treating unilateral apraxia of eyelid opening in a patient with congenital myotonia

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    Estrella Fernández

    Full Text Available ABSTRACT A 37-year-old female presented with severe apraxia of lid opening (ALO affecting the right upper lid associated with Becker congenital myotonia (MC. The patient had a history of right upper lid ptosis for 25 years that was exacerbated over the previous month with severe incapacity to open her right eye. No other associated neurological or ophthalmic symptoms were observed. The patient was treated with botulinum toxin (BoNT-A injection into the pretarsal and lateral canthus region of the orbicularis oculi of the affected eyelid. Treatment with BoNT-A is an effective method of managing ALO in Becker MC. This is the first case of unilateral ALO in the course of Becker MC that was successfully treated with injections of botulinum toxin.

  9. Treatment of ligneous conjunctivitis with amniotic membrane transplantation and topical cyclosporine

    Science.gov (United States)

    Tok, Ozlem Yalcin; Kocaoglu, Fatma Akbas; Tok, Levent; Burcu, Ayse; Ornek, Firdevs

    2012-01-01

    Ligneous conjunctivitis (LC) is a rare form of bilateral chronic recurrent disease in which thick membranes form on the palpebral conjunctiva and other mucosal sites. We report the clinical features and describe the management of two cases. Case 1 was an 8-month-old patient with bilateral membranous conjunctivitis. Case 2 was a 5-year-old patient with unilateral membranous conjunctivitis, esotropia, mechanical ptosis and complicated cataract, and had been treated with a number of medications. Histological investigation of the membrane in both cases showed LC. Treatments with amniotic membrane transplantation and institution of topical cyclosporine have shown good response. There has been complete resolution of the membranes with no recurrence at the end of 40- and 28-month follow-ups, respectively. No treatment related side effects were seen. Thus, it appears that amniotic membrane transplantation and topical cyclosporine are effective alternatives for the treatment of LC. PMID:23202401

  10. Progress on gene therapy, cell therapy, and pharmacological strategies toward the treatment of oculopharyngeal muscular dystrophy.

    Science.gov (United States)

    Harish, Pradeep; Malerba, Alberto; Dickson, George; Bachtarzi, Houria

    2015-05-01

    Oculopharyngeal muscular dystrophy (OPMD) is a muscle-specific, late-onset degenerative disorder whereby muscles of the eyes (causing ptosis), throat (leading to dysphagia), and limbs (causing proximal limb weakness) are mostly affected. The disease is characterized by a mutation in the poly(A)-binding protein nuclear-1 (PABPN1) gene, resulting in a short GCG expansion in the polyalanine tract of PABPN1 protein. Accumulation of filamentous intranuclear inclusions in affected skeletal muscle cells constitutes the pathological hallmark of OPMD. This review highlights the current translational research advances in the treatment of OPMD. In vitro and in vivo disease models are described. Conventional and experimental therapeutic approaches are discussed with emphasis on novel molecular therapies including the use of intrabodies, gene therapy, and myoblast transfer therapy.

  11. Effect of the sun on visible clinical signs of aging in Caucasian skin

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    Flament F

    2013-09-01

    Full Text Available Frederic Flament,1 Roland Bazin,2 Sabine Laquieze,3 Virginie Rubert,1 Elisa Simonpietri,4 Bertrand Piot1 1Department of Applied Research and Development, L'Oreal Research and Innovation, Paris, France; 2RB Consult, Bievres, France; 3Private Dermatology Consultancy Practice, Montpellier, France; 4BIOTHERM International, Levallois-Perret, France Objectives: Aging signs can be classified into four main categories: wrinkles/texture, lack of firmness of cutaneous tissues (ptosis, vascular disorders, and pigmentation heterogeneities. During a lifetime, skin will change in appearance and structure not only because of chronological and intrinsic processes but also due to several external factors such as gravity, sun and ultraviolet exposure, and high levels of pollution; or lifestyle factors that have important and obvious effects on skin aging, such as diet, tobacco, illness, or stress. The effect of these external factors leads to progressive degradations of tegument that appear with different kinetics. The aim of this study was to clinically quantify the effect of sun exposure on facial aging in terms of the appearance of new specific signs or in terms of increasing the classical signs of aging. Materials and methods: This study was carried out on 298 Caucasian women from 30 years to 78 years old. The participants were divided into two groups according to their sun exposure history: 157 women were characterized as sun-seeking, and the other 141 were classified as sun-phobic. This division was made possible by dermatologist grading of heliodermal status on the basis of several observations of classic criteria: wrinkles, sagging, pigmentation heterogeneities, vascular disorders, elastosis, and so on. This work was an opportunity to complete clinical photographic tools by adding in our portfolio new scales for signs observed in the two groups. Thus, 22 clinical parameters were investigated by a panel of twelve trained experts to characterize each woman

  12. NOONAN SYNDROME – CASE REPORT

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    Milena Vujanović

    2014-06-01

    Full Text Available Noonan Syndrome is a rare, autosomal dominant disorder characterized by short stature, facial abnormalities, congenital heart defects and urogenital malformations. Ocular changes occur in 95% of patients and usually include hypertelorism, ptosis, refractive errors, strabismus, amblyopia, rarely nystagmus, colobomas, cataracts, optic nerve drusen. Case report: We present a case of a boy, 10 months old, referred by the pediatrician because of strabismus. During the general examination of the head and face, we noted that the ears were low-set, and the lower jaw was slightly smaller. Ophthalmological examination revealed hypertelorism, left eye esotropia, hyperopia, and optic disc pit. Other associated malformations were: dilatation of both pyelons, cryptorchidism, pulmonary stenosis. Genetic analysis confirmed the diagnosis of Noonan syndrome. The variety of clinical manifestations of this syndrome indicates that a multidisciplinary approach is necessary for diagnosis, treatment, and follow-up of these patients.

  13. Kabuki make-up syndrome with genitourinary anomalies, ophthalmologic features and hyperpigmentation in an Egyptian child

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    Rabah M. Shawky

    2017-01-01

    Full Text Available We report a 3.5 year old male child, first in order of birth of healthy consanguineous Egyptian parents with typical characteristics of Kabuki make-up syndrome. The patient had microcephaly, high arched sparse eyebrows, hypertelorism, long palpebral fissures with eversion of the lateral third of the lower eyelids, bilateral ptosis, long eyelashes, blue sclera, depressed nasal bridge, broad nose with everted nares, and low set small deformed ears, thin lips, low post hair line, short neck, persistent fingertip pads, dysplastic nails, hypermobile joints, pigmented nevus on the back, lateral side of right foot and right leg and mild hypertrichosis over the lower back. Our patient had also a non-functioning left kidney, multiple chalazions in upper eyelids, enlargement of the glans penis, which were not reported previously, and moderate mental retardation.

  14. Characterizing POLG ataxia: clinics, electrophysiology and imaging.

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    Synofzik, Matthis; Srulijes, Karin; Godau, Jana; Berg, Daniela; Schöls, Ludger

    2012-12-01

    Mutations in the mitochondrial DNA polymerase gamma (POLG) cause a highly pleomorphic disease spectrum, and reports about their frequencies in ataxia populations yield equivocal results. This leads to uncertainties about the role of POLG genetics in the workup of patients with unexplained ataxia. A comprehensive characterization of POLG-associated ataxia (POLG-A) will help guide genetic diagnostics and advance our understanding of the disease processes underlying POLG-A. Thirteen patients with POLG-A were assessed by standardized clinical investigation, nerve conduction studies, motor-evoked potentials, magnetic resonance imaging (MRI) and transcranial sonography (TCS). The findings were compared with 13 matched patients with Friedreich's ataxia (FA). In addition to the well-known POLG-associated features of chronic external ophthalmoplegia (100 %), areflexia to the lower extremity (100 %), impaired vibration sense (100 %), bilateral ptosis (69 %) and epilepsy (38 %), also hyperkinetic movement disorders were frequent in POLG-A patients, including chorea (31 %), dystonia (31 %) and myoclonus (23 %). Similar to FA, polyneuropathy was of sensory axonal type (100 %). In contrast to FA, none of the POLG-A patients showed impaired central motor conduction. TCS demonstrated less enlargement of the fourth ventricle and more diffuse cerebellar hyperechogenicity in POLG-A. Corresponding to TCS, MRI revealed no or only mild cerebellar atrophy in most POLG-A patients (85 %). POLG ataxia presents with the clinical characteristics of both afferent and cerebellar ataxia. Cerebellar alterations diffusely involve various parts of the cerebellum, yet cerebellar atrophy is generally mild. POLG-A presents with a high load of distinct non-ataxia features, namely, sensory neuropathy, external ophthalmoplegia, ptosis, epilepsy and/or hyperkinetic movement disorders. Involvement of the corticospinal tract, however, is rare.

  15. Prostaglandin-associated periorbitopathy in latanoprost users

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    Nakakura S

    2014-12-01

    Full Text Available Shunsuke Nakakura,1 Minamai Yamamoto,1 Etsuko Terao,1 Nozomi Nagatomi,1 Naoko Matsuo,1 Yausko Fujisawa,1 Yuki Fujio,1 Hitoshi Tabuchi,1 Yoshiaki Kiuchi2 1Department of Ophthalmology, Saneikai Tsukazaki Hospital, Himeji, Japan; 2Department of Ophthalmology and Visual Sciences, Graduate School of Biomedical Sciences, Hiroshima University, Hiroshima, Japan Purpose: We investigated the incidence of prostaglandin-associated periorbitopathy (PAP in subjects with glaucoma treated with latanoprost ophthalmic solution.Subjects and methods: One eye and the forehead in 22 subjects were evaluated. All patients had used latanoprost for more than 1 year (range, 12 to 45 months; mean, 26.0 months and were prostaglandin F2α analogue treatment-naïve. Digital photographs of the subjects obtained before latanoprost therapy and at the last examination were compared retrospectively. Four signs of PAP (deepening of the upper eyelid sulcus (DUES, upper eyelid ptosis, flattening of the lower eyelid bags, and inferior scleral show and supplemental side effects around the eyelids (eyelash growth, poliosis, and eyelid pigmentation were judged to be negative or positive by three independent observers. If the observers unanimously rated a sign as positive, the result was defined as positive.Results: Twelve subjects (54.5% had no apparent signs. Three subjects were judged to have DUES (13.6%, and two subjects each were judged to have flattening of the lower eyelid bags and eyelid pigmentation (9.0%. The other signs were judged as positive in only one subject each, respectively (4.5%. A univariate logistic regression analysis showed no significant associations between any of the signs and age, sex, or the duration of therapy.Conclusion: Latanoprost induced DUES, upper eyelid ptosis, flattening of the lower eyelid bags, inferior scleral show, and supplemental side effects around the eyelids; however, the rates of such occurrence might be relatively low. Keywords: glaucoma

  16. Alterações dos cílios em portadores de cavidade anoftálmica Eyelash alterations in anophthalmic patients

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    Silvia Narikawa

    2007-02-01

    Full Text Available OBJETIVO: Avaliar a presença de alterações dos cílios em portadores de cavidade anoftálmica. MÉTODOS: Estudo observacional, procurando alterações ciliares em portadores de cavidade anoftálmica, atendidos na Faculdade de Medicina de Botucatu. RESULTADOS: Alterações dos cílios foram observadas em 70,7% dos portadores de cavidade anoftálmica. As alterações mais encontradas foram a ptose dos cílios (24,4%, diminuição do número (19,5%, tricomegalia (19,5%, triquíase (14,6% e entrópio (17,0%. CONCLUSÃO: Os portadores de cavidade anoftálmica possuem alterações ciliares, sendo as mais observadas: ptose de cílios, redução do número, tricomegalia e triquíase. O fator que leva a estas alterações necessita de maiores investigações.PURPOSE: To evaluate the eyelash alterations in anophthalmic cavity patients. METHODS: An observational study was done looking for eyelash alterations in anophthalmic cavity patients at "Faculdade de Medicina de Botucatu". RESULTS: Eyelash alterations were observed in 70.7% of the anophthalmic patients. The most frequently observed eyelash alterations were eyelash ptosis (24.4%, reduction in the quantity (19.5%, trichomegaly (19.5%, trichiasis (14.6% and entropium (17.0%. CONCLUSION: The anophthalmic cavity patients have eyelash alteration and ptosis, reduction in quantity, trichomegaly, trichiasis are the most common observed situations. Further studies are needed to know more about it.

  17. Apoplejía pituitaria con parálisis del III par craneal: Reporte de caso

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    Miguel Pinto Valdivia

    2011-10-01

    Full Text Available Se describe el caso de un varón de 65 años de edad, sin antecedentes patológicos de importancia, que acudió a emergencia del Hospital Nacional Cayetano Heredia por presentar cefalea intensa y ptosis palpebral izquierda. El examen físico mostró parálisis aislada del III par craneal izquierdo. Los análisis de laboratorio mostraron hiponatremia e hipopituitarismo y la resonancia magnética nuclear un adenoma pituitario con áreas de hemorragia e invasión de los senos cavernosos. El tratamiento incluyó glucocorticoides y descompresión quirúrgica transesfenoidal. La anatomía patológica confirmó el diagnóstico de infarto hemorrágico de un adenoma pituitario. El paciente fue dado de alta con terapia sustitutiva de levotiroxina y prednisona. La ptosis palpebral izquierda se recuperó en forma parcial. La apoplejía pituitaria es un síndrome clínico producido por un proceso expansivo dentro de la silla turca, secundario a hemorragia o infarto de un adenoma pituitario, que se caracteriza por cefalea, déficit visual, oftalmoplejía y alteración del nivel de conciencia. Este proceso expansivo puede comprimir los pares craneales en los senos cavernosos, produciendo diferentes grados de parálisis de los músculos oculomotores. La parálisis aislada del III par craneal es rara.(Rev Med Hered 2011;22:186-189.

  18. Von Hippel-Lindau disease associated with myasthenia gravis not related to thymoma

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    Paolo Pozzato

    2013-04-01

    Full Text Available BACKGROUND Von Hippel-Lindau disease (VHL is a rare autosomal dominant inherited disorder characterized by an increased risk of tumours in a number of locations (eyes, brain, adrenal gland, pancreas, liver, kidneys, or other areas of the body. It is caused by germline mutation in the VHL gene. The VHL gene is a tumour suppressor gene that has been identified on the short arm of chromosome 3. CASE REPORT We report a case of a 60 year-old female with the clinical diagnosis of VHL type 1 (cerebellar haemangioblastoma, pancreatic cysts with subsequent steatorrhoea, and bilateral renal carcinoma who developed weakness and fatigability of skeletal muscles, left lid ptosis, snarling expression and nasal timbre speech. Acetylcholine receptor antibodies were negative in serum, while the electrodiagnostic test demonstrated an alteration of neuromuscolar junction which was consistent with the diagnosis of myasthenia gravis. Contrast-enhanced TC scan of the anterior mediastinum was performed, which excluded thymus enlargement. VHL gene evaluation in this patient identified a new mutation (c279delC9 and polymorphism c291C>G. At present the patient still suffers from ataxia and dysmetria due to cerebellar involvement in VHL, while fatigue and lid ptosis improved after the treatment with oral pyridostigmine 60 mg tid. DISCUSSION AND CONCLUSIONS To our knowledge this is the first report of a case of VHL associated with myasthenia gravis without thymoma. A case of VHL associated with a form of myasthenia gravis related to thymoma has been recently reported. In our case the absence of acetylcholine receptor antibodies may suggest a genetic origin also for the myasthenia gravis.

  19. Recipient vessel selection in immediate breast reconstruction with free abdominal tissue transfer after nipple-sparing mastectomy.

    Science.gov (United States)

    Yang, Sung Jun; Eom, Jin Sup; Lee, Taik Jong; Ahn, Sei Hyun; Son, Byung Ho

    2012-05-01

    Nipple-sparing mastectomy (NSM) is gaining popularity due to its superior aesthetic results. When reconstructing the breast with free abdominal tissue transfer, we must readdress the recipient vessel, because NSM can cause difficulty in access to the chest vessel. Between June 2006 and March 2011, a total of 92 women underwent NSM with free abdominal tissue transfer. A lateral oblique incision was used for the nipple-sparing mastectomy. For recipient vessels, the internal mammary vessels were chosen if the mastectomy flap did not block access to the vessels. If it did, the thoracodorsal vessels were used. Age, degree of breast ptosis, weight of the mastectomy specimen, and related complications of the internal mammary vessel group and the thoracodorsal vessel group were compared. Thoracodorsal vessels were used as recipient vessels in 59 cases, and internal mammary vessels in 33 cases including 4 cases with perforators of the internal mammary vessels. Breast reconstruction was successful in all cases except one case involving a total flap failure, which was replaced by a silicone gel implant. The internal mammary group and the thoracodorsal group were similar in terms of age, height, breast weight, and degree of ptosis. The flap related complications such as flap loss and take-back operation rates were not significantly different between the two groups. The rate of nipple necrosis was higher in the internal mammary group. The thoracodorsal vessels could produce comparable outcomes in breast reconstruction after nipple-sparing mastectomies. If access to internal mammary vessels is difficult, the thoracodorsal vessel can be a better choice.

  20. Recipient Vessel Selection in Immediate Breast Reconstruction with Free Abdominal Tissue Transfer after Nipple-Sparing Mastectomy

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    Sung Jun Yang

    2012-05-01

    Full Text Available BackgroundNipple-sparing mastectomy (NSM is gaining popularity due to its superior aesthetic results. When reconstructing the breast with free abdominal tissue transfer, we must readdress the recipient vessel, because NSM can cause difficulty in access to the chest vessel.MethodsBetween June 2006 and March 2011, a total of 92 women underwent NSM with free abdominal tissue transfer. A lateral oblique incision was used for the nipple-sparing mastectomy. For recipient vessels, the internal mammary vessels were chosen if the mastectomy flap did not block access to the vessels. If it did, the thoracodorsal vessels were used. Age, degree of breast ptosis, weight of the mastectomy specimen, and related complications of the internal mammary vessel group and the thoracodorsal vessel group were compared.ResultsThoracodorsal vessels were used as recipient vessels in 59 cases, and internal mammary vessels in 33 cases including 4 cases with perforators of the internal mammary vessels. Breast reconstruction was successful in all cases except one case involving a total flap failure, which was replaced by a silicone gel implant. The internal mammary group and the thoracodorsal group were similar in terms of age, height, breast weight, and degree of ptosis. The flap related complications such as flap loss and take-back operation rates were not significantly different between the two groups. The rate of nipple necrosis was higher in the internal mammary group.ConclusionsThe thoracodorsal vessels could produce comparable outcomes in breast reconstruction after nipple-sparing mastectomies. If access to internal mammary vessels is difficult, the thoracodorsal vessel can be a better choice.

  1. Primary Buttonhole Mastopexy and Nipple-Sparing Mastectomy: A Preliminary Report.

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    Salibian, Arthur H; Harness, Jay K; Mowlds, Donald S

    2016-10-01

    Patients undergoing nipple-sparing mastectomy and immediate-implant based reconstruction occasionally require a mastopexy based on their breast size and degree of ptosis. Previous reports have shown the feasibility of mastopexy-nipple-sparing mastectomy in selected patients to raise the nipple up to 5 cm. Major mastopexy with nipple transposition more than 6 cm in conjunction with nipple-sparing mastectomy for therapeutic indications has not been described. The authors review their experience with primary buttonhole mastopexy performed in conjunction with nipple-sparing mastectomy. Between 2008 and 2014, 16 patients (32 breasts) underwent bilateral primary mastopexy and nipple-sparing mastectomy with immediate staged implant-based reconstruction. The Passot buttonhole technique was used for the mastopexy in all patients, raising the nipple from 7 to 12 cm. Tumor-related data, risk factors, breast size, degree of ptosis, expander size, fill volume, selection criteria, and complications are discussed. The average follow-up period was 33 months (range, 14 to 80 months). There were no tumor recurrences, and all patients completed their reconstruction. Two patients required removal of the expander and delayed reconstruction because of infection and implant exposure due to nipple-areola loss. The reasons for nipple-areola loss and technical modifications to enhance skin viability by retaining a thin layer of subareolar breast tissue for removal during the second-stage implant exchange are discussed. Primary mastopexy using the buttonhole technique performed together with nipple-sparing mastectomy is a safe procedure with predictable results in patients with very large or ptotic breasts requiring lifts greater than 6 cm. The success of the combined procedure depends on preserving a thin layer of subareolar breast tissue and removing it at the time of implant exchange.

  2. A TRAM flap design refinement for use in delayed breast reconstruction.

    LENUS (Irish Health Repository)

    Patel, A J K

    2009-09-01

    Autologous breast reconstruction following mastectomy is commonly achieved using the free Transverse Rectus Abdominis Myocutaneous (TRAM) flap. Since its first description, refinements and modifications have resulted in improved operative techniques and more aesthetically pleasing reconstructions. Pre-operative flap design, however, is a relatively new concept that has not received much attention in the literature. Patients who undergo breast reconstruction may have large, ptotic contralateral breasts. In these patients there is a tendency to raise a large abdominal flap in an attempt to achieve symmetry, or simply a larger breast. This has the potential to lead to tight closure of the abdomen and the risk of subsequent wound problems. Reconstructions that are too small or have inadequate ptosis commit the patient to contralateral breast surgery to achieve symmetry. Pre-operatively designing the flap, using a template created from the opposite breast, can help achieve a good match, often reducing the need for contralateral breast surgery. Even when contralateral breast reduction surgery is planned in advance, many of these patients still require, and prefer, a large reconstruction in order to achieve a well-proportioned result. We present a design template that addresses these particular issues and in the senior author\\'s hands has proved to be a very effective technique. Our technique allows raising an abdominal flap of less vertical height than traditionally used (thus reducing the risk of tight abdominal closure) and incorporates an inverted V-shaped flap of skin from the inferior mastectomy skin flap into the reconstruction. This allows more flap tissue to be available to fill the upper poles of the reconstructed breast and at the same time produces good ptosis.

  3. Bevacizumab in the treatment of five patients with breast cancer and brain metastases: Japan Breast Cancer Research Network-07 trial

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    Yamamoto D

    2012-09-01

    Full Text Available Daigo Yamamoto,1,3 Satoru Iwase,2 Yu Tsubota,1 Noriko Sueoka,1 Chizuko Yamamoto,3 Kaoru Kitamura,4 Hiroki Odagiri,5 Yoshinori Nagumo61Department of Surgery, Kansai Medical University, Hirakata, Osaka, 2Department of Palliative Medicine, University of Tokyo Hospital, Tokyo, 3Department of Internal Medicine, Seiko Hospital, Neyagawa, Osaka, 4Breast Unit, Nagumo Clinic, Fukuoka, 5Department of Surgery, Hirosaki National Hospital, Hirosaki, 6Breast Unit, Nagumo Clinic, Tokyo, JapanBackground: Brain metastases from breast cancer occur in 20%–40% of patients, and the frequency has increased over time. New radiosensitizers and cytotoxic or cytostatic agents, and innovative techniques of drug delivery are still under investigation.Methods: Five patients with brain metastases who did not respond to whole-brain radiotherapy and then received bevacizumab combined with paclitaxel were identified using our database of records between 2011 and 2012. The clinicopathological data and outcomes for these patients were then reviewed.Results: The median time to disease progression was 86 days. Of five patients, two (40% achieved a partial response, two had stable disease, and one had progressive disease. In addition, one patient with brain metastases had ptosis and diplopia due to metastases of the right extraocular muscles. However, not only the brain metastases, but also the ptosis and diplopia began to disappear after 1 month of treatment. The most common treatment-related adverse events (all grades were hypertension (60%, neuropathy (40%, and proteinuria (20%. No grade 3 toxicity was seen. No intracranial hemorrhage was observed.Conclusion: We present five patients with breast cancer and brain metastases, with benefits from systemic chemotherapy when combined with bevacizumab.Keywords: brain, bevacizumab, metastatic breast cancer

  4. Quality of life in purely ocular myasthenia in Japan

    Science.gov (United States)

    2014-01-01

    Background Since there has been no conclusive evidence regarding the treatment of ocular myasthenia, treatment guidelines were recently issued by the European Federation of Neurological Societies/European Neurological Society (EFNS/ENS). However, the therapeutic outcomes concerning the quality-of-life (QOL) of patients with ocular myasthenia are not yet fully understood. Methods We investigated the therapeutic outcomes of patients with purely ocular myasthenia in a multicenter cross-sectional survey in Japan. To evaluate the severity of ocular symptoms, we used the ocular-quantitative MG (QMG) score advocated by Myasthenia Gravis Foundation of America. We used the Japanese translated version of the MG-QOL15, a self-appraised scoring system. Results Of 607 myasthenia gravis (MG) patients with an observation-duration of illness ≥ 2 years, the cases of 123 patients (20%) were limited to ocular muscles (purely ocular myasthenia). During the entire clinical course, 81 patients experienced both ptosis and diplopia, 36 had ptosis alone, and six had diplopia alone. Acetyl-cholinesterase inhibitors and prednisolone were used in 98 and 52 patients, respectively. Treatment improved ocular symptoms, with the mean reduction in ocular-QMG score of 2.3 ± 1.8 points. However, 47 patients (38%) failed to gain minimal manifestation or a better status. Patients with unfavorable outcomes also self-reported severe QOL impairment. Multivariate analyses showed that the pretreatment ocular-QMG score was associated with unfavorable outcomes, but not associated with the patient’s QOL. Conclusion A treatment strategy designed in accord with a patient's ocular presentation must be considered in order to improve ocular symptoms and the patient's QOL. PMID:24996227

  5. Comparative study on the value of accessory examinations in the diagnosis of ocular myasthenia gravis

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    Fu-ru LIANG

    2016-10-01

    Full Text Available Objective To compare the sensitivity and specificity of ice test, neostigmine test and single fiber electromyography (SFEMG in the diagnosis of ocular myasthenia gravis (OMG, so as to establish an appropriate process for the diagnosis of OMG. Methods A total of 116 patients with newly onset ptosis and/or diplopia were detected by ice test, neostigmine test and SFEMG. Patients were followed up for 6 months to observe the disease changes and experimental treatment effects. Results Apart from patients whose diagnosis was in doubt or lost to follow - up, and who were diagnosed as generalized myasthenia gravis (GMG, the definite diagnosis was finally made in 81 patients, including 21 OMG patients and 60 patients with ptosis and/or diplopia caused by other diseases. The sensitivity of ice test for diagnosis of OMG was 95.24% (20/21, and specificity was 98.33%(59/60. The sensitivity of neostigmine test for diagnosis of OMG was 90.48% (19/21, and specificity was 85% (51/60. The sensitivity of SFEMG for diagnosis of OMG was 95.24% (20/21, and specificity was 80% (48/60. Among 3 tests, only specificity was found significant difference (χ2 = 5.232, P = 0.022. The specificity of ice test was better than that of neostigmine test (χ2 = 5.707, P = 0.017 and SFEMG (χ2 = 6.023, P = 0.014. Conclusions The ice test achieved high sensitivity and specificity in the diagnosis of OMG. The combination of ice test, neostigmine test and SFEMG may have important clinical value for the early diagnosis of OMG. DOI: 10.3969/j.issn.1672-6731.2016.10.008

  6. Eaton-Lambert syndrome with small cell carcinoma of the lung. A case with a favorable clinical course through chemotherapy and radiation

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    Matsushita, Shigeki; Hanyu, Norinao; Ichiyoshi, Takeo; Yanagisawa, Nobuo

    1987-04-01

    A case of Eaton-Lambert syndrome with small cell carcinoma of the lung responding favorably to chemotherapy and radiation was described. The patient, 56-year-old man, began to feel weakness of the upper limbs in 1982 (age 52). His condition deteriorated gradually, followed by weakness of the lower limbs, dysphagia and bilateral ptosis. He was admitted to our hospital in Janualy 1984. We started radiation therapy for the lung mass and his neurological findings improved slightly. In June 1984, he complained of pain in the left elbow accompanied by increased ptosis and weakness in the limbs. The biopsy of left elbow lymphnode revealed the metastasis of intermediate cell type small cell carcinoma of the lung, and the diagnosis of Eaton-Lambert syndrome was confirmed. Metastases were also found at the right parietal bone and cervical lymphnode. We started a combination chemotherapy consisting of ACNU, vincristine, methotrexate and cyclophosphamide, adding prophylactic irradiation to the cranium and metastatic regions. After treatment, the metastases disappeared completely and no abnormal findings were found except for decreased tendon reflexes of the upper limbs. Post-treatment electromyography showed marked reduction of waxing and post-tetanic facilitation. We have intermittently continued a combination chemotherapy for consolidation. The patient is living well 21 months after the distant metastases became apparent, and is showing marked improvement of Eaton-Lambert syndrome through chemotherapy and radiation. We propose that anti-neoplastic treatment is the first choice for the treatment of Eaton-Lambert syndorame associated with small cell carcinoma of long. (J.P.N.).

  7. Hutchinson’s Sign

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    Lawrence Lau

    2018-01-01

    Full Text Available History of present illness: A 30-year-old African American male presents with two days of gradually worsening vesicular pruritic rash over the left naris, left upper lip, and inferior to medial epicanthus, initially noted just on the upper lip the night before. By the next day it had spread to the nose and cheek. Patient denies any fever, pain, discharge from the rash, ear or nose, or changes in vision. He denies exposure to any new hygiene products, household cleaning products, recent outdoor activities, travel, or insect bites. Past medical history significant for a childhood varicella infection. Patient works for a moving company, and had an episode of heat exhaustion at work one week prior to onset. Denies alcohol or drug abuse. Significant findings: The unilateral distribution of vesicular lesions over the patient’s left naris, cheek, and upper lip are consistent with Herpes zoster reactivation with Hutchinson’s sign. Hutchinson’s sign is a herpes zoster vesicle present on the tip or side of the nose.1 It reflects zoster involvement of the 1st branch of the trigeminal nerve, and is concerning for herpes zoster ophthalmicus.1 Herpes zoster vesicles may present as papular lesions or macular vesicles on an erythematous base.2,3 Emergent diagnosis must be made to prevent long-term visual sequelae.4 Discussion: The history of a childhood viral exanthem, specifically a past varicella infection, helps direct the diagnosis.2 Herpes zoster ophthalmicus is an ophthalmological emergency and results from viral reactivation within the V1 branch of CN V, leading to direct ocular involvement.1 Symptoms of ocular involvement include red eye, blurry vision, eye pain or photophobia.1 If left untreated, corneal ulceration, scarring, perforation, glaucoma, cataracts, and blindness may occur.1 Fluorescein staining with slit lamp examination will show a characteristic “dendritic ulcer” within the epithelial layer of the cornea.1 Treatment is generally

  8. Topografia do carcinoma basocelular e suas correlações com o gênero, a idade e o padrão histológico: um estudo retrospectivo de 1.042 lesões Topography of basal cell carcinoma and their correlations with gender, age and histologic pattern: a retrospective study of 1042 lesions

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    Cláudia Fernanda Dias Souza

    2011-04-01

    to trunk, ears and scalp (p <0.05. The surgeries in the medial epicanthus and scalp occurred at younger ages (p=0.01. CONCLUSIONS: We identified significant associations between the topography of lesions, gender, age and histological type, demonstrating the possible pathophysiological diversity and differential risk factors operation. In the period studied we found no trend of increase in the proportion of young or women among patients.

  9. Efeitos adversos associados à aplicação de toxina botulínica na face: revisão sistemática com meta-análise Adverse effects associated with facial application of botulinum toxin: a systematic review with meta-analysis

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    Roberta Melissa Benetti Zagui

    2008-12-01

    evaluated with the Q test and I² index. Egger's significance test was used to identify the publication bias. Sensitivity analysis was performed to evaluate the effect of the publication biases. RESULTS: Eight randomized trials and thirteen case reports filled the inclusion criteria. In the systematic review of case reports, 1,003 subjects were studied and 182 (18.14% showed adverse effects. Eyelid ptosis was the most frequent adverse effect, presenting in 34 (3.39% patients of the case reports. In the meta-analysis of randomized trials, the overall relative risk for adverse effects as headache, eyelid ptosis, local reaction and infection was respectively: 1.07, 3.25, 0.99 and 0.94. For all comparisons, P values were greater than 0.05. CONCLUSION: Ptosis was the most frequent adverse effect and showed the higher relative risk associated with botulinum toxin. It is necessary to perform a pattern of adverse effects related for better understanding the relationship between adverse effects and use of botulinum toxin.

  10. Cavernous sinus syndrome in dogs and cats: case series (2002-2015

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    Aslynn M. Jones

    2018-05-01

    Full Text Available The cavernous sinus (CS is a paired venous sinus that runs along either side of the pituitary gland on the floor of the calvarium. Cavernous sinus syndrome (CSS refers to deficits in more than one of the cranial nerves III, IV, V, and VI, as they are in close association in this region. The purpose of this study was to identify the presenting complaints, neurologic findings, diagnosis, and outcomes in dogs and cats with confirmed cavernous sinus syndrome (CSS. Medical records between 2002 and 2015 were reviewed. Inclusion criteria were neurologic signs consistent with CSS and advanced imaging and/or post-mortem examination. Thirteen dogs and 2 cats were included. Twelve dogs received advanced imaging. Post-mortem examination was performed on 2 cats and 3 dogs. Dogs were 6 -13 years (mean= 10.8 years of age and comprised of several different breeds. Both cats were male neutered domestic shorthair, ages 3 and 14 years. Presenting complaints included mydriasis (N=4, behavior changes (N=3, hyporexia (N=3, ptosis (N=2, ataxia (N=2, pain (N=2, weakness (N=2, lethargy (N=2, and one each of epiphora, ocular swelling, polydipsia, seizures, facial muscle atrophy, dysphagia, and head tilt. Neurologic signs included ophthalmoparesis/plegia (N=13, reduced/absent pupillary light response (N= 11, mydriasis (N= 10, reduced/absent corneal sensation (N= 7, ptosis (N= 6, reduced facial sensation (N= 2, and enophthalmos (N=1. Thirteen patients had a mass lesion within the cavernous sinus, 6 of which were confirmed neoplastic via histopathology. Median survival time for the 4 patients treated with radiation therapy was 1035 days (range 150-2280. Median survival for the 4 patients that received medical treatment was 360 days (range 7-1260 days, and for the 5 non-treated patients 14 days (range 0-90 days. In conclusion mydriasis and ophthalmoplegia are common signs of CSS. A mass lesion within the CS is the most common cause. Survival time may be improved with

  11. Late radiation side effects, cosmetic outcomes and pain in breast cancer patients after breast-conserving surgery and three-dimensional conformal radiotherapy. Risk-modifying factors

    International Nuclear Information System (INIS)

    Hille-Betz, Ursula; Soergel, Philipp; Kundu, Sudip; Klapdor, Ruediger; Hillemanns, Peter; Vaske, Bernhard; Bremer, Michael; Henkenberens, Christoph

    2016-01-01

    The purpose of this work was to identify parameters influencing the risk of late radiation side effects, fair or poor cosmetic outcomes (COs) and pain in breast cancer patients after breast-conserving therapy (BCT) and three-dimensional conformal radiotherapy (3D-CRT). Between 2006 and 2013, 159 patients were treated at the Hannover Medical School. Physician-rated toxicity according to the LENT-SOMA criteria, CO and pain were assessed by multivariate analysis. LENT-SOMA grade 1-4 toxicity was observed as follows: fibrosis 10.7 %, telangiectasia 1.2 %, arm oedema 8.8 % and breast oedema 5.0 %. In addition, 15.1 % of patients reported moderate or severe breast pain, and 21.4 % complained about moderate or severe pain in the arm or shoulder. In multivariate analysis, axillary clearing (AC) was significantly associated with lymphoedema of the arm [odds ratio (OR) 4.37, p = 0.011, 95 % confidence interval (CI) 1.4-13.58]. Breast oedema was also highly associated with AC (OR 10.59, p = 0.004, 95 % CI 2.1-53.36), a ptosis grade 2/3 or pseudoptosis and a bra size ≥ cup C (OR 5.34, p = 0.029, 95 % CI 1.2-24.12). A ptosis grade 2/3 or pseudoptosis and a bra size ≥ cup C were the parameters significantly associated with an unfavourable CO (OR 3.19, p = 0.019, 95 % CI 1.2-8.4). Concerning chronic breast pain, we found a trend related to the prescribed radiation dose including boost (OR 1.077, p = 0.060, 95 % CI 0.997-1.164). Chronic shoulder or arm pain was statistically significantly associated with lymphoedema of the arm (OR 3.9, p = 0.027, 95 % CI 1.17-13.5). Chronic arm and breast oedema were significantly influenced by the extent of surgery (AC). Ptotic and large breasts were significantly associated with unfavourable COs and chronic breast oedema. Late toxicities exclusive breast pain were not associated with radiotherapy parameters. (orig.) [de

  12. Incisiones mínimas para mastoplastias reductoras

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    Víctor Manuel Sánchez Castillo

    2002-04-01

    Full Text Available Se realiza un estudio descriptivo y longitudinal, que abarcó el segundo semestre de 1999 y primer semestre del 2000, donde el universo estuvo formado por un total de 100 pacientes que recibieron tratamiento quirúrgico (mastoplastias reductoras al presentar diferentes grados de deformidad del volumen mamario, previa evaluación preoperatoria en consulta de Cirugía Plástica y en atención a los criterios de operabilidad, para lo cual fueron intervenidas quirúrgicamente en el Hospital Provincial Clinicoquirúrgico Docente «Celia Sánchez Manduley», de Manzanillo. Se analizaron las diferentes variables que se debían estudiar mediante la revisión de las historias clínicas e informes operatorios, donde se realizó el cierre en J ó en L, en este tipo de técnica quirúrgica empleada. Se concluye que los diferentes grados de hipertrofia mamaria y/o ptosis mamaria producen alteraciones funcionales y psicológicas importantes en las pacientes estudiadas. El posoperatorio fue satisfactorio en las pacientes tratadas con el método de incisiones cortas, el cual puede ser aplicado en pacientes con gigantomastias y en las diferentes técnicas de mastoplastias reductoras conocidasA descriptive and longitudinal study that included a total of 100 patients who underwent surgical treatment (reduction mastoplasties for presenting different degrees of deformity of the breast volume, previous preoperative evaluation at the Plastic Surgery Consulting Room and according to the operability criteria, was conducted from the second semester of 1999 to the first semester of 2000. They were operated on at "Celia Sánchez Manduley" Provincial Clinical and Surgical Teaching Hospital, in Manazanillo. The different variables that should be studied were analyzed by reviewing the medical histories and the surgical reports. J or L closure was performed in this type of surgical technique used. It was concluded that the different degrees of breast hypertrophy and/or breast

  13. 355 Ocular Muscles Myopathy Associated with Autoimmune Thyroiditis. Case Reports

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    Vargas-Camaño, Eugenia; Castrejon-Vázquez, Isabel; Plazola-Hernández, Sara I.; Moguel-Ancheita, Silvia

    2012-01-01

    Background Thyroid-associated orbitopathy is commonly associated with Graves' disease with lid retraction, exophthalmos, and periorbital swelling, but rarely with autoimmune thyroiditis or euthyroid state. We reviewed 3 cases from our hospital whose antibodies to anti-receptor of TSH were normal. Methods Case 1: 60 year-old non-diabetic woman with bilateral glaucoma in treatment, recurrent media otitis and euthyroidism, acute onset of painless diplopia, and lid ptosis in the left eye. MRI of orbit showed increased size of the III right cranial pair and high levels of thyroid autoantibodies (Tab) anti-tiroglobulin (ATG) 115.1, anti-thyroid peroxidase (ATPO) 1751 U/mL. She started oral deflazacort 30 mg each 3 days. Sixty days later, complete remission of eye symptoms correlated with lower auto-antibodies level (ATG 19 ATPO 117). Case 2: 10 year-old girl. At age 8, she had diplopia, lid ptosis and limitations of upper gaze in the left eye. The neurological study discarded ocular myasthenia; with thyroid goitier, and hypothyrodism, she started oral levothyroxin. At age 10 with normal IRM Botulinic toxin was injected, without change. High levels of Tab were found, ATG 2723, ATPO 10.7. She started oral deflazacort 30 mg each 3 days, azathioprin 100 mg, daily. Actually, Tab levels are almost normal, but she remains with ocular alterations. Case 3: 56 year-old woman, Grave´s disease with exophtalmos in 1990, treated with I131 and immunosupression, with good outcome; obesity, hypertension and bilateral glaucoma in treatment. She suddenly presented diplopia and IV pair paresia of the right eye. A year later, ATb were found slightly elevated, ATG 100 years ATPO 227; despite prednisone 50 mg, each 3 days and azathioprin 150 mg/daily treatment, a surgical procedure was required for relieve the ocular symptoms. Results We found only 3 cases previously reported with this type of eye thyroid disease. Is important to note that awareness of this atypical form of orbitopathy

  14. Clinical characteristics of patients with myasthenia gravis associated with other autoimmune diseases

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    Li-li WANG

    2014-10-01

    Full Text Available Objective To analyze the clinical characteristics, drug efficacy and prognosis of patients with myasthenia gravis (MG associated with other autoimmune diseases. Methods Eighty-three MG patients were divided into 2 groups. One group included MG patients with autoimmune diseases (AIDMG, N = 24, and the other included MG patients without autoimmune diseases (NAIDMG, N = 59. Firstly, clinical features such as sex, age of onset, initial symptoms and thymus abnormalities were compared between patients with AIDMG and NAIDMG. Secondly, effect of different therapies, including pyridostigmine, corticosteroids, immunoglobulin, immunosuppressants and thymectomy was compared between 2 groups. Finally, prognosis including relapse rate and recurrence time during the first 2 years after MG onset was compared. Whether and when ocular myasthenia gravis (OMG progressing to general myasthenia gravis (GMG and the first onset of GMG symptoms during the first 2 years were also compared between 2 groups.  Results The difference of gender predominance (χ2 = 8.467, P = 0.004, ptosis affecting left or right or both sides (χ2 = 9.830, P = 0.007 and disease course within 2 years after onset (χ2 = 15.255, P = 0.001 between AIDMG group and NAIDMG group were statistically significant. Other clinical features such as age of onset (χ2 = 1.728, P = 0.228, initial symptoms (χ2 = 0.252, P = 0.791, thymus abnormalities (χ2 = 3.200, P = 0.202 were not significantly different between 2 groups. Differences of therapeutical effect such as pyridostigmine (χ2 = 0.411, P = 0.395, corticosteroids (χ2 = 0.156, P = 0.513, immunoglobulin (χ2 = 0.359, P = 0.462, immunosuppressants (χ2 = 0.081, P = 0.526 and thymectomy (χ2 = 0.337, P = 0.391 between 2 groups were not statistically significant. The ratio of OMG progressing to GMG (χ2 = 1.826, P = 0.148, time of progressing (Fisher's exact test: P = 0.639, first onset symptom (Fisher's exact test: P = 0.196 and recurrence

  15. Incidence and diagnosis of anosognosia for hemiparesis revisited

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    Baier, B; Karnath, H

    2005-01-01

    Background: In previous studies, the incidence of anosognosia for hemiparesis has varied between 17% and 58% in samples of brain damaged patients with hemiparesis. Objective: To determine whether this wide variation might be explained by the different criteria used for diagnosing anosognosia. Methods: 128 acute stroke patients with hemiparesis or hemiplegia were tested for anosognosia for hemiparesis using the anosognosia scale of Bisiach et al. Results: 94% of the patients who were rated as having "mild anosognosia"—that is, they did not acknowledge their hemiparesis spontaneously following a general question about their complaints—suffered from, and mentioned, other neurological deficits such as dysarthria, ptosis, or headache. However, they immediately acknowledged their paresis when they were asked about the strength of their limbs. Their other deficits clearly had a greater impact. These patients had significantly milder paresis than those who denied their disorder even when asked directly about their limbs. Conclusions: Patients who do not mention their paresis spontaneously but do so when questioned about it directly should not be diagnosed having "anosognosia." If this more conservative cut off criterion is applied to the data of the present as well as previous studies, a frequency of between 10% and 18% for anosognosia for hemiparesis is obtained in unselected samples of acute hemiparetic stroke patients. The incidence thus seems smaller than previously assumed. PMID:15716526

  16. Herpes Zoster ophthalmicus with occulomotor nerve palsy

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    Hayati Kandiş

    2010-09-01

    Full Text Available Dear Editor;A 79-year-old male patient was admitted to our emergency department with a complaining of eruption over his face for 10 days and inability to open his eyes for a few days. The patient had hypertension and diabetes mellitus. He had no history of smoking, alcohol. On examination, there was vesicular cutaneous eruption, erosions and crusts, as well as ptosis, in some areas in the ophthalmic division of the trigeminal nerve on the left side of his face (Figure 1. The patient did not have extraocular muscle palsy. Patient was cachectic and dehydrated appearance. Other systemic examinations were unremarkable. Laboratory investigations showed total white cell count of 16500 (neutrophil: 15000, N: 5200–12400, and CRP: 15 mg/dL (N: 0.1–0.5. A clinical diagnosis of ophthalmic zoster with occulomotor nerve palsy was made and the valasiclovir 3g/d was given to patient, wet dressing with an aluminum acetate solution 0,5%. The patient’s lesions had markedly improved within 10 days.

  17. [Amaurosis and contralateral cranial nerve pairs III and VI paralysis after peribulbar block - Case report].

    Science.gov (United States)

    Leme, Fábio Caetano Oliveira; Moro, Eduardo Toshiyuki; Ferraz, Alexandre Alberto Fontana

    2016-08-20

    Peribulbar anesthesia (PBA) has emerged as a safer option compared with intraconal retrobulbar block. Still, PBA may not be considered without risk. Numerous complications have been described when performing this technique. This report aims to describe a rare case of amaurosis and contralateral paralysis while attempting to perform a PBA. Male patient, 75-year old, physical status ASA II, undergoing cataract surgery by phacoemulsification with intraocular lens implantation. Sedated with fentanyl and midazolam and subjected to PBA. There were no complications during surgery. After finishing the procedure, the patient reported lack of vision in the contralateral eye. Akinesia of the muscles innervated by the cranial nerve pairs III and VI, ptosis, and medium-sized pupils unresponsive to light stimulus were observed. Four hours after anesthesia, complete recovery of vision and eyelid and eyeball movements was seen in the non-operated eye. During PBA, structures located in the intraconal space can be accidentally hit leading to complications such as described in the above report. Following the technical guidelines and using appropriate size needles may reduce the risk of such complication, but not completely. Copyright © 2016. Publicado por Elsevier Editora Ltda.

  18. Open angle glaucoma in a case of Type IV Ehler Danlos syndrome: a rarely reported association.

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    Mitra, Arijit; Ramakrishnan, R; Kader, Mohideen Abdul

    2014-08-01

    A 26-year-old male presented to us with defective vision in the left eye. He had best corrected visual acuity (BCVA) of hand movement (HM) in right eye and 6/9 in left eye. He had ptosis with ectropion in both eyes and relative afferent pupillary defect (RAPD) in right eye. Intraocular pressure (IOP) was 46 and 44 mmHg in right and left eye, respectively. Fundus showed glaucomatous optic atrophy (GOA) in right eye and cup disc ratio (CDR) of 0.75 with bipolar rim thinning in left eye. Systemic examination showed hyperextensible skin and joints, acrogeria, hypodontia, high arched palate, and varicose veins. He gave history of easy bruising and tendency to fall and history of intestinal rupture 5 years ago for which he had undergone surgery. He was diagnosed as a case of Type IV Ehler-Danlos syndrome (EDS) with open angle glaucoma. He underwent trabeculectomy in both eyes. This is a rare case that shows glaucoma in a patient of EDS Type IV. Very few such cases have been reported in literature.

  19. Open angle glaucoma in a case of Type IV Ehler Danlos syndrome: A rarely reported association

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    Arijit Mitra

    2014-01-01

    Full Text Available A 26-year-old male presented to us with defective vision in the left eye. He had best corrected visual acuity (BCVA of hand movement (HM in right eye and 6/9 in left eye. He had ptosis with ectropion in both eyes and relative afferent pupillary defect (RAPD in right eye. Intraocular pressure (IOP was 46 and 44 mmHg in right and left eye, respectively. Fundus showed glaucomatous optic atrophy (GOA in right eye and cup disc ratio (CDR of 0.75 with bipolar rim thinning in left eye. Systemic examination showed hyperextensible skin and joints, acrogeria, hypodontia, high arched palate, and varicose veins. He gave history of easy bruising and tendency to fall and history of intestinal rupture 5 years ago for which he had undergone surgery. He was diagnosed as a case of Type IV Ehler-Danlos syndrome (EDS with open angle glaucoma. He underwent trabeculectomy in both eyes. This is a rare case that shows glaucoma in a patient of EDS Type IV. Very few such cases have been reported in literature.

  20. The expanding phenotype of mitochondrial myopathy.

    Science.gov (United States)

    DiMauro, Salvatore; Gurgel-Giannetti, Juliana

    2005-10-01

    Our understanding of mitochondrial diseases (defined restrictively as defects in the mitochondrial respiratory chain) continues to progress apace. In this review we provide an update of information regarding disorders that predominantly or exclusively affect skeletal muscle. Most recently described mitochondrial myopathies are due to defects in nuclear DNA, including coenzyme Q10 deficiency, and mutations in genes that control mitochondrial DNA (mtDNA) abundance and structure such as POLG and TK2. Barth syndrome, an X-linked recessive mitochondrial myopathy/cardiopathy, is associated with altered lipid composition of the inner mitochondrial membrane, but a putative secondary impairment of the respiratory chain remains to be documented. Concerning the 'other genome', the role played by mutations in protein encoding genes of mtDNA in causing isolated myopathies has been confirmed. It has also been confirmed that mutations in tRNA genes of mtDNA can cause predominantly myopathic syndromes and - contrary to conventional wisdom - these mutations can be homoplasmic. Defects in the mitochondrial respiratory chain impair energy production and almost invariably involve skeletal muscle, causing exercise intolerance, myalgia, cramps, or fixed weakness, which often affects extraocular muscles and results in droopy eyelids (ptosis) and progressive external ophthalmoplegia.

  1. Mitochondrial myopathies.

    Science.gov (United States)

    DiMauro, Salvatore

    2006-11-01

    Our understanding of mitochondrial diseases (defined restrictively as defects of the mitochondrial respiratory chain) is expanding rapidly. In this review, I will give the latest information on disorders affecting predominantly or exclusively skeletal muscle. The most recently described mitochondrial myopathies are due to defects in nuclear DNA, including coenzyme Q10 deficiency and mutations in genes controlling mitochondrial DNA abundance and structure, such as POLG, TK2, and MPV17. Barth syndrome, an X-linked recessive mitochondrial myopathy/cardiopathy, is associated with decreased amount and altered structure of cardiolipin, the main phospholipid of the inner mitochondrial membrane, but a secondary impairment of respiratory chain function is plausible. The role of mutations in protein-coding genes of mitochondrial DNA in causing isolated myopathies has been confirmed. Mutations in tRNA genes of mitochondrial DNA can also cause predominantly myopathic syndromes and--contrary to conventional wisdom--these mutations can be homoplasmic. Defects in the mitochondrial respiratory chain impair energy production and almost invariably involve skeletal muscle, causing exercise intolerance, cramps, recurrent myoglobinuria, or fixed weakness, which often affects extraocular muscles and results in droopy eyelids (ptosis) and progressive external ophthalmoplegia.

  2. Computerized photogrammetry used to calculate the brow position index.

    Science.gov (United States)

    Naif-de-Andrade, Naif Thadeu; Hochman, Bernardo; Naif-de-Andrade, Camila Zirlis; Ferreira, Lydia Masako

    2012-10-01

    The orbital region is of vital importance to facial expression. Brow ptosis, besides having an impact on facial harmony, is a sign of aging. Various surgical techniques have been developed to increase the efficacy of brow-lift surgery. However, no consensus method exists for an objective measurement of the eyebrow position due to the curvature of the face. Therefore, this study aimed to establish a method for measuring the eyebrow position using computerized photogrammetry. For this study, 20 orbital regions of 10 volunteers were measured by direct anthropometry using a digital caliper and by indirect anthropometry (computerized photogrammetry) using standardized digital photographs. Lines, points, and distances were defined based on the position of the anthropometric landmarks endocanthion and exocanthion and then used to calculate the brow position index (BPI). Statistical analysis was performed using Student's t test with a significance level of 5 %. The BPI values obtained by computerized photogrammetric measurements did not differ significantly from those obtained by direct anthropometric measurements (p > 0.05). The mean BPI was 84.89 ± 10.30 for the computerized photogrammetric measurements and 85.27 ± 10.67 for the direct anthropometric measurements. The BPI defined in this study and obtained by computerized photogrammetry is a reproducible and efficient method for measuring the eyebrow position. This journal requires that authors assign a level of evidence to each article.

  3. Endoscopic forehead lift in patients with male pattern baldness.

    Science.gov (United States)

    Shipchandler, Taha Z; Sultan, Babar; Byrne, Patrick J

    2012-01-01

    The presence of male pattern baldness poses a significant challenge when attempting to optimize treatment of the upper third of the face. The purpose of this study is to demonstrate and discuss results of the endoscopic forehead lift in patients with male pattern baldness. This was a retrospective case series done in an academic medical center. Eleven patients with male pattern baldness (Norwood class IV-VII) underwent endoscopic forehead lift for forehead creases and brow ptosis. All patients achieved smoothing of the forehead and elevation of the brow with no scalp anesthesia at 1 month postoperatively. All patients were pleased with the healing of their incisions in midline, paramedian, and temporal regions. Alloplastic fixation devices used were visible postoperatively in 2 patients initially. The endoscopic forehead lift is a suitable approach for treating the upper third of the face in the presence of male pattern baldness. The use of alloplastic fixation devices may be used in this patient population, but other fixation methods should be considered. Copyright © 2012 Elsevier Inc. All rights reserved.

  4. An analysis of malar fat volume in two age groups: implications for craniofacial surgery.

    Science.gov (United States)

    Corey, Christina L; Popelka, Gerald R; Barrera, Jose E; Most, Sam P

    2012-12-01

    Objective To evaluate how malar fat pad (MFP) volumes vary with age, after controlling for gender and body mass index (BMI). Study Design A prospective case-control study evaluating volume of the MFP in women of two age groups. Methods Soft tissue dimensions were measured in eight subjects using magnetic resonance imaging. A multiplanar localizing sequence, followed in sagittal and coronal orientations using a turbo spin echo sequence, was performed to define the MFP. Volumetric calculations were then performed using a 3D image analysis application (Dextroscope, Volume Interactions, Republic of Singapore) to circumscribe areas, orient dimensions, and calculate volumes of the MFP. Results These data reveal no significant difference in the mean (standard deviation) right MFP (p = 0.50), left MFP (p = 0.41), or total MFP (p = 0.45) volumes when comparing the two age groups. In addition, these data indicate that there was no correlation between age and total MFP volume (Pearson correlation coefficient 0.27). Moreover, there was no correlation between age and the ratio of total volume/BMI (Pearson correlation coefficient -0.18). Conclusions Although the sample size of this study was small, these data indicate that ptosis of midfacial fat is more important than volume loss in midfacial aging. These data would suggest repositioning as the primary modality for craniofacial reconstruction.

  5. Colgajo dermoglandular de apoyo en mastopexia con implantes: técnica de la hamaca

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    A. Alí

    2013-12-01

    Full Text Available La ptosis mamaria es consulta frecuente en la práctica del cirujano plástico, y las opciones quirúrgicas para su corrección son múltiples. A pesar de los avances en el tratamiento de esta alteración, los resultados impredecibles y las posibles complicaciones siguen siendo frecuentes, sobre todo cuando se asocia la colocación de implantes mamarios. La dehiscencia de la herida, la exposición del implante y la modificación de la forma de la mama, en especial del polo inferior, pueden estar presentes a corto o largo plazo en las pacientes sometidas a cirugía de pexia mamaria con implantes. Presentamos una nueva técnica quirúrgica para suspensión y protección del polo inferior de la mama a partir de un colgajo dermoglandular de pedículo interno inferior que llamaremos "hamaca". Este colgajo, nos permite mantener más estable la forma de la mama a lo largo del tiempo y brindar así una mayor protección al implante en caso de dehiscencia de la herida.

  6. Surgical management of third nerve palsy

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    Anupam Singh

    2016-01-01

    Full Text Available Third nerve paralysis has been known to be associated with a wide spectrum of presentation and other associated factors such as the presence of ptosis, pupillary involvement, amblyopia, aberrant regeneration, poor bell′s phenomenon, superior oblique (SO overaction, and lateral rectus (LR contracture. Correction of strabismus due to third nerve palsy can be complex as four out of the six extraocular muscles are involved and therefore should be approached differently. Third nerve palsy can be congenital or acquired. The common causes of isolated third nerve palsy in children are congenital (43%, trauma (20%, inflammation (13%, aneurysm (7%, and ophthalmoplegic migraine. Whereas, in adult population, common etiologies are vasculopathic disorders (diabetes mellitus, hypertension, aneurysm, and trauma. Treatment can be both nonsurgical and surgical. As nonsurgical modalities are not of much help, surgery remains the main-stay of treatment. Surgical strategies are different for complete and partial third nerve palsy. Surgery for complete third nerve palsy may involve supra-maximal recession - resection of the recti. This may be combined with SO transposition and augmented by surgery on the other eye. For partial third nerve, palsy surgery is determined according to nature and extent of involvement of extraocular muscles.

  7. Síndrome de Noonan: relato de caso Noonan's syndrome: case report

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    Vanderson Glerian Dias

    2004-08-01

    Full Text Available Os autores apresentam um caso de síndrome de Noonan em criança de 14 anos de idade, diagnosticada por meio de exame genético-clínico, demonstrando alterações oftalmológicas como hipertelorismo, alterações da fenda palpebral, hipotropia direita com pequena anisotropia em V, nistagmo, ptose palpebral bilateral e ambliopia do olho direito. Discute-se a importância do oftalmologista para esta síndrome e a necessidade do acompanhamento por equipe médica multidisciplinar.The authors present the case of a 14-year-old child with Noonan´s syndrome, diagnosed by clinical genetic examination, demonstrating ophthalmologic alterations such as: hypertelorism, eyelid fissue changes, right hypotropia with a small V anisotropy, nystagmus, bilateral eyelid ptosis and amblyopia in right eye. The importance of the ophthalmologist in this syndrome and the need for a follow-up by a multidisciplinary medical group are discussed.

  8. Skull Base Langerhans Cell Histiocytosis with Diabetes Insipidus and Panhypopituitarism- A Rare Clinical Entity

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    Anirban Ghosh

    2017-12-01

    Case Report A 16 year old male presented with diminished vision, bilateral ptosis, left sided lateral rectus palsy, hypoesthesia of trigeminal nerve with nasal obstruction for last 5 months. There was polypoidal, bleeding mass in both nasal cavities. Contrast enhanced CT Scan showed a large homogenous mass arising from sphenoid extending into cavernous sinus and the suprasellar region. Endoscopic nasal biopsy revealed abundant Langerhans cell histiocytes, macrophages, neutrophils. Chemotherapy and radiotherapy were administered. But within 2 months the patient presented with Cushingoid features and further diminution of vision. Detailed work-up revealed Hypogonadotrophic hypogonadism and diabetes insipidus. Debulking of the tumour was done and left optic nerve decompression was done. PET scan was performed and showed large, well defined mass with increased FDG uptake in the skull base with suprasellar extension, reaching upto petrous temporal bone and causing bony erosion of ethmoid and sphenoid sinuses. Patient was then advised adjuvant chemotherapy.   Discussion Langerhans cell histiocytosis is a rare group of disorders characterised by abnormal clonal proliferation and accumulation of abnormal dendritic cells. Involvement of base of skull is even rarer. Though diabetes insipidus has been reported in Langerhans cell histiocytosis involving pituitary, panhypopituitarism is rare. These combinations of extensive Langerhans cell histiocytosis of base skull with clinical features of Diabetes insipidus and panhypopituitarism makes this case a rare clinical entity.

  9. New screening system for unruptured cerebral aneurysms

    International Nuclear Information System (INIS)

    Samejima, Hirotsugu; Ushikubo, Yukio; Mizokami, Toru

    1990-01-01

    We have designed a screening system to diagnose unruptured aneurysms, including the use of digital subtraction angiography (DSA). We surveyed 115 patients who had undergone clipping procedures after subarachnoid hemorrhage (SAH) and questioned them with regard to the subjective symptoms. Sixty-eight of 92 patients who returned the questionnaire reported, prior to rupture, headache,eye pain, and neck pain most frequently, and also impairment of extraocular movements, ptosis, visual field defects, and motor and sensory disturbances. Nineteen (47.5%) of 40 patients who had complete pain relief after surgery complained of headache from 1 week to 1 month before SAH. In addition, nine patients (22.5%) complained of headache for several years, and were also pain-free after surgery. For the indication of DSA, we employed an expert system based on fuzzy set theory. Seven groups of parameters are: Group 1, a basic questionnaire concerning age, sex, and past and family histories; Group 2, 15 warning signs selected on the basis of retrospective study; and Groups 3-7, detailed questions concerning each sign. Scoring weights assigned to each condition based on the results of the retrospective study, and threshold values were determined by several neurosurgeons. The certainty factors for intermediate hypotheses were calculated from these weights and threshold values and summed up, from which the conclusion was obtained. Twelve new cases of unruptured cerebral aneurysm were diagnosed using this screening system. This system may improve the ability to diagnose cerebral aneurysms before rupture. (author)

  10. Eyelid reanimation with gold weight implant and tendon sling suspension: evaluation of excursion and velocity using the FACIAL CLIMA system.

    Science.gov (United States)

    Hontanilla, Bernardo; Marre, Diego

    2013-04-01

    This study aims to analyse the efficacy of static techniques, namely gold weight implant and tendon sling, in the reanimation of the paralytic eyelid. Upper eyelid rehabilitation in terms of excursion and blinking velocity is performed using the automatic motion capture system, FACIAL CLIMA. Seventy-four patients underwent a total of 101 procedures including 58 upper eyelid gold weight implants and 43 lower eyelid tendon suspension with 27 patients undergoing both procedures. The presence of lagophtalmos, eye dryness, corneal ulcer, epiphora and lower lid ptosis/ectropion was assessed preoperatively. The Wilcoxon signed-rank test was used to compare preoperative versus postoperative measurements of upper eyelid excursion and blinking velocity determined with FACIAL CLIMA. Significance was set at p CLIMA revealed significant improvement of eyelid excursion and velocity of blinking (p CLIMA system is a reliable method to quantify upper eyelid excursion and blinking velocity and to detect the exact position of the lower eyelid. Copyright © 2012 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  11. Early Reconstruction of Orbital Roof Fractures: Clinical Features and Treatment Outcomes

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    Jin Woo Kim

    2012-01-01

    Full Text Available BackgroundOrbital roof fractures are frequently associated with a high energy impact to the craniofacial region, and displaced orbital roof fractures can cause ophthalmic and neurologic complications and occasionally require open surgical intervention. The purpose of this article was to investigate the clinical features and treatment outcomes of orbital root fractures combined with neurologic injuries after early reconstruction.MethodsBetween January 2006 and December 2008, 45 patients with orbital roof fractures were admitted; among them, 37 patients were treated conservatively and 8 patients underwent early surgical intervention for orbital roof fractures. The type of injuries that caused the fractures, patient characteristics, associated fractures, ocular and neurological injuries, patient management, and treatment outcomes were investigated.ResultsThe patients underwent frontal craniotomy and free bone fragment removal, their orbital roofs were reconstructed with titanium micromesh, and associated fractures were repaired. The mean follow up period was 11 months. There were no postoperative neurologic sequelae. Postoperative computed tomography scans showed anatomically reconstructed orbital roofs. Two of the five patients with traumatic optic neuropathy achieved full visual acuity recovery, one patient showed decreased visual acuity, and the other two patients completely lost their vision due to traumatic optic neuropathy. Preoperative ophthalmic symptoms, such as proptosis, diplopia, upper eyelid ptosis, and enophthalmos were corrected.ConclusionsEarly recognition and treatment of orbital roof fractures can reduce intracranial and ocular complications. A coronal flap with frontal craniotomy and orbital roof reconstruction using titanium mesh provides a versatile method and provides good functional and cosmetic results.

  12. Complete 3rd cranial nerve dysfunction postdeflation/ excision of an encasing pituitary macroadenoma intrasellular cyst: A Case Report

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    Ng C. S.

    2016-09-01

    Full Text Available Central nervous system injury in particular cranial nerve palsy has been reported to be as high as 2%. Such prevalence of palsy generally attributed to surgical manipulation at the cavernous sinus, especially incurring the abducens nerve. We report the first case of acute oculomotor nerve sequel to the release of cystic fluid wrapping the nerve following a transsphenoidal excision of pituitary macroadenoma in a 57-year-old woman. She attended with the presentation of acute excruciating headache associated with partial drooping of right eye. The computed tomography and magnetic resonance imaging (MRI were consistent with pituitary apoplexy of an underlying pituitary macroadenoma. Urgent transsphenoidal hypophysectomy was done. Intra-operatively, cystic fluid was aspirated during pituitary tumour dissection. At the same time, curettage was employed to removal residual tumour after the tumour biopsy. Immediate post-operative assessment noted complete right eye ptosis, with clinical evidence of complete right third and fourth nerve palsies. MRI was repeated a week later in view of such palsy non-resolution. However, no local compression or edema noted. Observation and monitoring were opted versus surgical revision. Propitiously the aforementioned cranial nerve palsies persist for a month and subsequently subsided. In this case, we highlight the potential deleterious impact of aspirating cystic component and curettaging during pituitary surgery. Likely postulated accounts for such occurrence include sudden release of fluid pressure with resultant cystic traction on its enfolding cranial nerves and subsequent neuropraxia. We aim to invite comments that could enlighten us on this gray area.

  13. Case of Cytomegalovirus Infection Causing Isolated Oculomotor Nerve Palsy

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    Halil Sen

    2014-06-01

    Full Text Available The third cranial nerve is called the oculomotor nerve. The pathology is revealed by limitation of eye movement inward-up-down, mydriasis, loss of light reflex and ptosis. Oculomotor nerve pathologies are frequently seen in neurology practice and are situations that may be very difficult for differential diagnosis. Differential diagnosis first involves disqualifying intracranial etiologies by imaging because these intracranial etiologies may be situations that can result in death and should be primarily evaluated. If intracranial events are ruled out, generally rarer etiologic reasons with generally difficult differentiation should be researched. Viral infections are among the rare etiological reasons causing 3rd cranial nerve involvement. Our case was a 71-year old female with etiological research due to 3rd cranial nerve palsy. The patient with diabetes-linked immune deficiency was found to have cranial nerve involvement developed secondary to cytomegalovirus (CMV infection. We report this case as 3rd cranial nerve involvement is rarely observed developing linked to CMV infection.

  14. Mosaic trisomy 8 detected by fibroblasts cultured of skin

    Science.gov (United States)

    Gómez, Ana M; Mora, Lina; Suarez-Obando, Fernando; Moreno, Olga

    2016-01-01

    Introduction: Mosaic trisomy 8 or "Warkany's Syndrome" is a chromosomopathy with an estimated prevalance of 1:25,000 to 1:50,000, whose clinical presentation has a wide phenotypic variability. Case Description: Patient aged 14 years old with antecedents of global retardation of development, moderate cognitive deficit and hypothyroidism of possible congenital origin. Clinical Findings: Physical examination revealed palpebral ptosis, small corneas and corectopia, hypoplasia of the upper maxilla and prognathism, dental crowding, high-arched palate, anomalies of the extremities such as digitalization of the thumbs, clinodactyly and bilateral shortening of the fifth finger, shortening of the right femur, columnar deviation and linear brown blotches that followed Blaschko's lines. Cerebral nuclear magnetic resonance revealed type 1 Chiari's malformation and ventriculomegaly. Although the karyotype was normal in peripheral blood (46,XY), based on the finding of cutaneous mosaicism the lesions were biopsied and cytogenetic analysis demonstrated mosaic trisomy 8: mos 47,XY,+8[7]/46,XY[93]. Clinical Relevance: Trisomy 8 is clinically presented as a mosaic, universal cases being unfailingly lethal. In this particular case, cutaneous lesions identified the mosaic in tissue, although the karyotype was normal in peripheral blood. The cutaneous mosaicism represented by brown linear blotches which follow Blaschko's lines is a clinical finding that has not previously been described in Warkany's syndrome. PMID:27546932

  15. Adult mitochondrial DNA depletion syndrome with mild manifestations

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    Josef Finsterer

    2013-06-01

    Full Text Available Mitochondrial DNA depletion syndrome (MDS is usually a severe disorder of infancy or childhood, due to a reduced copy number of mtDNA molecules. MDS with only mild, non-specific clinical manifestations and onset in adulthood has not been reported. A 47-year-old Caucasian female with short stature and a history of migraine, endometriosis, Crohn’s disease, C-cell carcinoma of the thyroid gland, and a family history positive for mitochondrial disorder (2 sisters, aunt, niece, developed day-time sleepiness, exercise intolerance, and myalgias in the lower-limb muscles since age 46y. She slept 9-10 hours during the night and 2 hours after lunch daily. Clinical exam revealed sore neck muscles, bilateral ptosis, and reduced Achilles tendon reflexes exclusively. Blood tests revealed hyperlipidemia exclusively. Nerve conduction studies, needle electromyography, and cerebral and spinal magnetic resonance imaging were non-informative. Muscle biopsy revealed detached lobulated fibers with subsarcolemmal accentuation of the NADH and SDH staining. Real-time polymerase chain reaction revealed depletion of the mtDNA down to 9% of normal. MDS may be associated with a mild phenotype in adults and may not significantly progress during the first year after onset. In an adult with hypersomnia, severe tiredness, exercise intolerance, and a family history positive for mitochondrial disorder, a MDS should be considered.

  16. [Evaluation of the cosmetic effect of orbital endoimplantation after removal the eyeball].

    Science.gov (United States)

    Piskiniene, Raimonda

    2006-01-01

    The purpose of our study was to evaluate the cosmetic effect of endoimplantation after removal the eyeball. The removal of the globe creates anatomic and physiological alteration of the orbital tissue and orbital bones. A volume deficit occurs when an eye is enucleated. Deep upper lid sulcus, ptosis, lower lid laxity, and enophthalmus of the artificial eye together constitute the postenucleation socket syndrome, which creates an asymmetry of the face. The orbital prosthesis by placing it in the orbital cavity allows correcting volume deficit, so the implant with attached extraocular muscles, together with an artificial eye, creates an illusion of real eye. Forty patients were operated on in Clinic of Eye Diseases of Kaunas University of Medicine Hospital. Twenty patients underwent removal of the eye and procedure of orbital implant insertion (main group). Twenty patients had just an eyeball removal without insertion of an orbital implant (control group). There was a statistically significant difference in exophthalmometry data between main and control groups (14.20+/-2.73 vs. 10.35+/-1.23 mm, respectively; peyeball removal.

  17. Optic nerve sheath meningioma treated with radiation conformal therapy. Clinical case report with long follow up

    International Nuclear Information System (INIS)

    Zomosa R, Gustavo; Cruz T, Sebastian; Miranda G, Gonzalo; Harbst S, Hans

    2016-01-01

    Optic nerve sheath meningiomas (ONSM) are rare tumors of the anterior visual pathway. Without treatment, tumor growth leads to progressive loss of visual acuity and blindness due to optic nerve compression. Case report: Patient, female, 42 years without other morbility , begins in 1992 with decreased visual acuity of the left eye, magnetic resonance imaging (MRI) showed enlargement of the left optic nerve sheath, suggestive of ONSM. On that occasion, orbit exploration failed, so it was decided to follow up with annual clinical and imaging controls. About ten years later, begins with progressive deterioration of visual acuity and visual field , with ptosis and ocular motor palsy of the left eye, confirmed with neuro-ophthalmological examinations. MRI shows tumor progression. A new surgical approach was discarded by the risk of visual worsening. A conformal radiotherapy was performed with a fractionated 54 Gy dose. Today, at age 65, after 24 years of follow up,13 post radiation therapy. clinical and radiological stability of ONSM is confirmed. Discussion: Conformal radiotherapy has been shown as an effective therapy, with fewer complications and better outcomes in the preservation of visual function in the long term follow up Radio-fluoro guided surgery in high grade gliomas

  18. Baraitser and Winter syndrome with growth hormone deficiency.

    Science.gov (United States)

    Chentli, Farida; Zellagui, Hadjer

    2014-01-01

    Baraitser-Winter syndrome (BWS), first reported in 1988, is apparently due to genetic abnormalities that are still not well-defined, although many gene abnormalities are already discovered and de novo missense changes in the cytoplasmic actin-encoding genes (called ACTB and ACTG1) have been recently discovered. The syndrome combines facial and cerebral malformations. Facial malformations totally or partially present in the same patient are: Iris coloboma, bilateral ptosis, hypertelorism, broad nasal bridge, and prominent epicanthic folds. The various brain malformations are probably responsible for growth and mental retardation. To the best of our knowledge, the syndrome is very rare as few cases have been reported so far. Our aim was to describe a child with a phenotype that looks like BWS with proved partial growth hormone (GH) deficiency which was not reported before. A girl aged 7-year-old of consanguineous parents was referred for short stature and mental retardation. Clinical examination showed dwarfism and a delay in her mental development. Other clinical features included: Strabismus, epicanthic folds, broad nasal bridge, and brain anomalies such as lissencephaly, bilateral hygroma, and cerebral atrophy. Hormonal assessment showed partial GH deficiency without other endocrine disorders. Our case looks exactly like BWS. However, apart from facial and cerebral abnormalities, there is a partial GH deficiency which can explain the harmonious short stature. This case seems worth to be reported as it adds GH deficiency to the very rare syndrome.

  19. Lúpus Eritematoso Sistêmico com fraqueza muscular por Miastenia Gravis Systemic Lupus Erythematosus with muscle weakness due to Myasthenia Gravis

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    Sâmia Araújo de Sousa Studart

    2011-06-01

    Full Text Available O Lúpus Eritematoso Sistêmico (LES e a Miastenia Gravis (MG são doenças autoimunes cuja associação em um mesmo paciente é raramente descrita. Essas patologias compartilham algumas características como acometimento de mulheres jovens, positividade para anticorpos antinucleares, evolução em períodos de exacerbações e remissões. O presente relato de caso analisa as possíveis hipóteses diagnósticas para um quadro clínico de ptose palpebral e fraqueza muscular proximal em uma paciente portadora de lúpus recente que evoluiu com MG associada.Systemic lupus erythematosus (SLE and myasthenia gravis (MG are autoimmune diseases, whose association in the same patient is rarely reported. Both pathologies share the following characteristics: affect mainly young women; alternate exacerbation and remission periods; and have positive antinuclear antibody (ANA test. This case report assesses possible diagnostic hypotheses for the clinical findings of eyelid ptosis and proximal muscle weakness in a female patient recently diagnosed with SLE, who evolved with associated MG.

  20. Acute muscular weakness in children

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    Ricardo Pablo Javier Erazo Torricelli

    Full Text Available ABSTRACT Acute muscle weakness in children is a pediatric emergency. During the diagnostic approach, it is crucial to obtain a detailed case history, including: onset of weakness, history of associated febrile states, ingestion of toxic substances/toxins, immunizations, and family history. Neurological examination must be meticulous as well. In this review, we describe the most common diseases related to acute muscle weakness, grouped into the site of origin (from the upper motor neuron to the motor unit. Early detection of hyperCKemia may lead to a myositis diagnosis, and hypokalemia points to the diagnosis of periodic paralysis. Ophthalmoparesis, ptosis and bulbar signs are suggestive of myasthenia gravis or botulism. Distal weakness and hyporeflexia are clinical features of Guillain-Barré syndrome, the most frequent cause of acute muscle weakness. If all studies are normal, a psychogenic cause should be considered. Finding the etiology of acute muscle weakness is essential to execute treatment in a timely manner, improving the prognosis of affected children.

  1. 11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report

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    Baekgaard Peter

    2009-02-01

    Full Text Available Abstract WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region. We present a patient with mental retardation, unilateral cataract, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face. Cytogenetic analysis showed a deletion on 11p that was further characterized using FISH and MLPA analyses. The deletion (11p13-p12 located in the area between the deletions associated with the WAGR and Potocki-Shaffer syndromes had a maximum size of 8.5 Mb and encompasses 44 genes. Deletion of WT1 explains the genital abnormalities observed. As PAX6 was intact the cataract observed cannot be explained by a deletion of this gene. Seizures have been described in Potocki-Shaffer syndrome while mental retardation has been described in both WAGR and Potocki-Shaffer syndrome. Characterization of this patient contributes further to elucidate the function of the genes in the 11p14-p12 chromosome region.

  2. Ophthalmoplegic migraine.

    Science.gov (United States)

    Bek, Semai; Genc, Gencer; Demirkaya, Seref; Eroglu, Erdal; Odabasi, Zeki

    2009-05-01

    According to the International Headache Society, ophthalmoplegic migraine is recurrent attacks of headache with migrainous characteristics associated with paresis of one or more ocular cranial nerves (commonly the third nerve) in the absence of any demonstrable intracranial lesion. We report a patient with typical clinical features of ophthalmoplegic migraine. A 21-year-old man had right frontal throbbing headaches recurring twice a year. His headache lasted for 1 to 5 days and was followed by slight drooping of his eyelid and double vision that lasted for approximately 3 months. On examination he had ptosis and adduction paralysis of the right eye. Brain MRI revealed a thickened, enhancing right oculomotor nerve. He was treated with methylprednisolone 1000 mg/d IV for 5 days. Only 2 weeks later, clinical improvement was observed and 3 months later the oculomotor nerve enhancement resolved. Ophthalmoplegic migraine has been considered to have a microvascular, ischemic etiology, but more recently it has been reclassified as a demyelinating condition affecting the oculomotor. To our knowledge, this is the first ophthalmoplegic migraine case presented pretreatment and post-treatment with clinical photographic documentation and an MRI showing enduring thickening of the oculomotor nerve although symptoms and contrast enhancement resolved.

  3. The use of botulinum toxin A in the treatment of functional epiphora.

    Science.gov (United States)

    Whittaker, Karl W; Matthews, Bethan N; Fitt, Alan W; Sandramouli, S

    2003-09-01

    The purpose of this study was to investigate the hitherto undescribed effects of botulinum toxin A injected into the lacrimal gland in patients with functional epiphora. A prospective non-comparative interventional case series study was designed to include patients with functional epiphora who presented to the Oculoplastic unit at the Wolverhampton and Midland Counties Eye Infirmary. Botulinum toxin A (2.5-5 units) was injected into the palpebral lobe of the lacrimal gland on the worst affected side via a transconjunctival approach under topical anaesthesia. Patients underwent a Schirmer test and provided a subjective evaluation of their epiphora symptoms, indoors and outdoors, at baseline and at 1, 4 and 13 weeks after injection. The mean score for symptoms indoors and outdoors was calculated. Fourteen patients agreed to take part in the study. Subjective epiphora scores improved in 8 out of the 11 patients (72.7%) who completed 13 weeks of follow-up. Schirmer test results showed objective reduction in tearing from baseline but did not strongly correlate with the subjective epiphora scores. Transient mild ptosis and diplopia were experienced by two patients. The results from this small pilot study are encouraging, although larger, controlled trials are needed to assess the optimal dose of BTX-A, its long-term efficacy and safety, and the role of multiple injections.

  4. Meningioma Causing Visual Impairment: Outcomes and Toxicity After Intensity Modulated Radiation Therapy

    Energy Technology Data Exchange (ETDEWEB)

    Maclean, Jillian, E-mail: jillian.maclean@uclh.nhs.uk [Radiotherapy Department, University College London Hospital, London (United Kingdom); Fersht, Naomi [Radiotherapy Department, University College London Hospital, London (United Kingdom); Bremner, Fion [Neuro-Ophthalmology Department, National Hospital for Neurology and Neurosurgery, London (United Kingdom); Stacey, Chris; Sivabalasingham, Suganya [Radiotherapy Department, University College London Hospital, London (United Kingdom); Short, Susan [Radiotherapy Department, University College London Hospital, London (United Kingdom); Leeds Institute of Molecular Medicine, St James University Hospital, Leeds (United Kingdom)

    2013-03-15

    Purpose: To evaluate ophthalmologic outcomes and toxicity of intensity modulated radiation therapy (IMRT) in patients with meningiomas causing visual deficits. Methods and Materials: A prospective observational study with formal ophthalmologic and clinical assessment of 30 consecutive cases of meningioma affecting vision treated with IMRT from 2007 to 2011. Prescriptions were 50.4 Gy to mean target dose in 28 daily fractions. The median follow-up time was 28 months. Twenty-six meningiomas affected the anterior visual pathway (including 3 optic nerve sheath meningiomas); 4 were posterior to the chiasm. Results: Vision improved objectively in 12 patients (40%). Improvements were in visual field (5/16 patients), color vision (4/9 patients), acuity (1/15 patients), extraocular movements (3/11 patients), ptosis (1/5 patients), and proptosis (2/6 patients). No predictors of clinical response were found. Two patients had minor reductions in tumor dimensions on magnetic resonance imaging, 1 patient had radiological progression, and the other patients were stable. One patient experienced grade 2 keratitis, 1 patient had a minor visual field loss, and 5 patients had grade 1 dry eye. Conclusion: IMRT is an effective method for treating meningiomas causing ophthalmologic deficits, and toxicity is minimal. Thorough ophthalmologic assessment is important because clinical responses often occur in the absence of radiological change.

  5. Myopathies of endocrine disorders: A prospective clinical and biochemical study

    Directory of Open Access Journals (Sweden)

    Vikas Sharma

    2014-01-01

    Full Text Available Introduction: Major categories of endocrine myopathy include those associated with: Adrenal dysfunction (as in Cushing′s disease or steroid myopathy; thyroid dysfunction (as in myxedema coma or thyrotoxic myopathy; vitamin D deficiency; parathyroid dysfunction; and pituitary dysfunction. Steroid myopathy is the most common endocrine myopathy. Objective: To study the etiology, varied presentations, and outcome after therapy of patients with endocrine myopathies. Materials and Methods: Myopathy was evaluated by the standard clinical procedures: Detailed clinical history, manual muscle strength testing, and creatine phosphokinase (CPK. Endocrine disorders were diagnosed as per clinical features and biochemical parameters. The treatment was given to patients as per underlying endocrine disease. Myopathy was assessed before and after treatment. Results: Out of the 37 patients who were diagnosed with endocrine myopathies, thyroid dysfunction was the most common cause (17 cases, followed by vitamin D deficiency in nine, adrenal dysfunction in six, parathyroid dysfunction in three, and pituitary dysfunction in two. Some patients had atypical presentation (repeated falls in one, tongue fasciculations in one, neck weakness in five, one with ptosis and facial weakness, asymmetrical onset in one, and calf hypertrophy in one. The serum creatine kinase (CK concentration did not correlate with muscle weakness. Following the treatment regimen which was specific for a given myopathy, 26 patients recovered fully. Conclusion: We found varied clinical presentations of endocrine myopathies. All the patients with neuromuscular complaints should be investigated for endocrine causes because significant number of them recovers fully with specific treatment.

  6. Use of magnetic therapy in clinical neurology: literature review

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    Shogam, I.I.; Lenchin, V.N.; Baranovskaya, A.V.

    1985-01-01

    A literature survey is presented on the current status of magnetic therapy in clinical neurology. It is generally accepted that the high susceptibility of the nervous system to the magnetic field is due to a large extent to the automatic component. Furthermore, it has also become clear that glial cells are far more susceptible to magnetic fields than are neurons. Controversy prevails on the question of whether the therapeutic effectiveness of magnetic fields involves a direct mechanism of action or an indirect one via reflex mechanisms. Nevertheless, effectiveness of magnetic therapy has been demonstrated and generally accepted in cases dealing with lagophthalmia, ptosis, various neuralgia, radiculitis, neuritis, vascular and infectious pathology of the brain, and so forth. Basically, the effectiveness of such therapy is strongly dependent on the location and the nature of the pathologic process, as well as on the functional status of the autonomic nervous system. In view of this, effective magnetic therapy is highly dependent on individualization of a given approach. 111 References.

  7. Neurological manifestations of snake bite in Sri Lanka.

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    Seneviratne U

    2002-10-01

    Full Text Available BACKGROUND AND AIMS: Snake bite is an important cause of mortality and morbidity in certain parts of Sri Lanka. This study was designed to determine the offending snakes, neurological manifestations, disease course, and outcome in neurotoxic envenomation. METHODS AND MATERIAL: Fifty six consecutive patients admitted with neurological manifestations following snake bite were studied prospectively. Data were obtained regarding the offending snakes, neurological symptoms, time taken for onset of symptoms, neurological signs, and time taken for recovery. RESULTS: The offending snake was Russell′s viper in 27(48.2%, common and Sri Lankan krait in 19(33.9%, cobra in 3(5.4%, and unidentified in 7(12.5%. Ptosis was the commonest neurological manifestation seen in 48(85.7% followed by ophthalmoplegia (75%, limb weakness (26.8%, respiratory failure (17.9%, palatal weakness (10.7%, neck muscle weakness (7.1%, and delayed sensory neuropathy (1.8%. Neurological symptoms were experienced usually within 6 hours after the bite. Following administration of antivenom, the signs of recovery became evident within a few hours to several days. The duration for complete recovery ranged from four hours to two weeks. CONCLUSIONS: Complete recovery of neuromuscular weakness was observed in all patients except for one who died with intracerebral haemorrhage shortly after admission.

  8. SUNCT syndrome. Two cases in Argentina.

    Science.gov (United States)

    Raimondi, E; Gardella, L

    1998-05-01

    Two patients suffering from SUNCT syndrome are presented. Some features are remarkable. The first patient was a 69-year-old man whose first crisis was located in the right supraorbital region. After a 4-month spontaneous remission, the pain returned to the upper part of the cheek, radiating to the supraciliary region on the same side, with lacrimation and conjunctival injection. Rhinorrhea was absent. The painful attacks were triggered by head movements. Clinical improvement occurred with carbamazepine treatment. The second patient was a 48-year-old woman whose painful attacks lasted from 30 to 45 seconds followed by a burning sensation lasting 2 hours. Autonomic signs such as conjunctival injection, lacrimation, and edema and ipsilateral ptosis of the upper lid were rather marked. There was never any rhinorrhea. Her attacks were triggered by head and eye movements. She responded to the administration of corticosteroids and carbamazepine. According to these features, the two patients had SUNCT syndrome, and the positive carbamazepine response suggests a relationship with trigeminal neuralgia.

  9. Identifying ideal brow vector position: empirical analysis of three brow archetypes.

    Science.gov (United States)

    Hamamoto, Ashley A; Liu, Tiffany W; Wong, Brian J

    2013-02-01

    Surgical browlifts counteract the effects of aging, correct ptosis, and optimize forehead aesthetics. While surgeons have control over brow shape, the metrics defining ideal brow shape are subjective. This study aims to empirically determine whether three expert brow design strategies are aesthetically equivalent by using expert focus group analysis and relating these findings to brow surgery. Comprehensive literature search identified three dominant brow design methods (Westmore, Lamas and Anastasia) that are heavily cited, referenced or internationally recognized in either medical literature or by the lay media. Using their respective guidelines, brow shape was modified for 10 synthetic female faces, yielding 30 images. A focus group of 50 professional makeup artists ranked the three images for each of the 10 faces to generate ordinal attractiveness scores. The contemporary methods employed by Anastasia and Lamas produce a brow arch more lateral than Westmore's classic method. Although the more laterally located brow arch is considered the current trend in facial aesthetics, this style was not empirically supported. No single method was consistently rated most or least attractive by the focus group, and no significant difference in attractiveness score for the different methods was observed (p = 0.2454). Although each method of brow placement has been promoted as the "best" approach, no single brow design method achieved statistical significance in optimizing attractiveness. Each can be used effectively as a guide in designing eyebrow shape during browlift procedures, making it possible to use the three methods interchangeably. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  10. Surgeon point-of-view recording: Using a high-definition head-mounted video camera in the operating room

    Directory of Open Access Journals (Sweden)

    Akshay Gopinathan Nair

    2015-01-01

    Full Text Available Objective: To study the utility of a commercially available small, portable ultra-high definition (HD camera (GoPro Hero 4 for intraoperative recording. Methods: A head mount was used to fix the camera on the operating surgeon′s head. Due care was taken to protect the patient′s identity. The recorded video was subsequently edited and used as a teaching tool. This retrospective, noncomparative study was conducted at three tertiary eye care centers. The surgeries recorded were ptosis correction, ectropion correction, dacryocystorhinostomy, angular dermoid excision, enucleation, blepharoplasty and lid tear repair surgery (one each. The recorded videos were reviewed, edited, and checked for clarity, resolution, and reproducibility. Results: The recorded videos were found to be high quality, which allowed for zooming and visualization of the surgical anatomy clearly. Minimal distortion is a drawback that can be effectively addressed during postproduction. The camera, owing to its lightweight and small size, can be mounted on the surgeon′s head, thus offering a unique surgeon point-of-view. In our experience, the results were of good quality and reproducible. Conclusions: A head-mounted ultra-HD video recording system is a cheap, high quality, and unobtrusive technique to record surgery and can be a useful teaching tool in external facial and ophthalmic plastic surgery.

  11. Surgeon point-of-view recording: Using a high-definition head-mounted video camera in the operating room.

    Science.gov (United States)

    Nair, Akshay Gopinathan; Kamal, Saurabh; Dave, Tarjani Vivek; Mishra, Kapil; Reddy, Harsha S; Della Rocca, David; Della Rocca, Robert C; Andron, Aleza; Jain, Vandana

    2015-10-01

    To study the utility of a commercially available small, portable ultra-high definition (HD) camera (GoPro Hero 4) for intraoperative recording. A head mount was used to fix the camera on the operating surgeon's head. Due care was taken to protect the patient's identity. The recorded video was subsequently edited and used as a teaching tool. This retrospective, noncomparative study was conducted at three tertiary eye care centers. The surgeries recorded were ptosis correction, ectropion correction, dacryocystorhinostomy, angular dermoid excision, enucleation, blepharoplasty and lid tear repair surgery (one each). The recorded videos were reviewed, edited, and checked for clarity, resolution, and reproducibility. The recorded videos were found to be high quality, which allowed for zooming and visualization of the surgical anatomy clearly. Minimal distortion is a drawback that can be effectively addressed during postproduction. The camera, owing to its lightweight and small size, can be mounted on the surgeon's head, thus offering a unique surgeon point-of-view. In our experience, the results were of good quality and reproducible. A head-mounted ultra-HD video recording system is a cheap, high quality, and unobtrusive technique to record surgery and can be a useful teaching tool in external facial and ophthalmic plastic surgery.

  12. Combined lateral rectus augmented transposition and inferior rectus recession for monocular elevation deficiency.

    Science.gov (United States)

    Jayakumar, Manjula; Kumar, Dhivya Ashok; Agarwal, Amar

    2018-04-01

    We report the case of a 21-year-old woman who presented with a drooping right upper eyelid and smaller-appearing right eye, evident since birth. Her visual acuity was 20/30 in the right eye and 20/20 in the left eye. In primary gaze she had a hypotropia of 25 Δ , with a marked elevation limitation and associated true upper lid ptosis of 3 mm. Under local anesthesia, the lateral rectus muscle was transposed to the superior rectus muscle and was augmented by a nonabsorbable suture attaching the superior rectus muscle and lateral rectus muscle 8 mm posterior to the insertion, accompanied by an inferior rectus recession. One year after surgery she was orthophoric in primary position and showed improvement in elevation. The surgical procedure can be performed at the same time as the inferior rectus recession and reduces the risk of anterior segment ischemia. Copyright © 2018 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

  13. New screening system for unruptured cerebral aneurysms; Combination of an expert system and DSA examination

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    Samejima, Hirotsugu; Ushikubo, Yukio; Mizokami, Toru [Toho Univ., Tokyo (Japan). School of Medicine; and others

    1990-08-01

    We have designed a screening system to diagnose unruptured aneurysms, including the use of digital subtraction angiography (DSA). We surveyed 115 patients who had undergone clipping procedures after subarachnoid hemorrhage (SAH) and questioned them with regard to the subjective symptoms. Sixty-eight of 92 patients who returned the questionnaire reported, prior to rupture, headache,eye pain, and neck pain most frequently, and also impairment of extraocular movements, ptosis, visual field defects, and motor and sensory disturbances. Nineteen (47.5%) of 40 patients who had complete pain relief after surgery complained of headache from 1 week to 1 month before SAH. In addition, nine patients (22.5%) complained of headache for several years, and were also pain-free after surgery. For the indication of DSA, we employed an expert system based on fuzzy set theory. Seven groups of parameters are: Group 1, a basic questionnaire concerning age, sex, and past and family histories; Group 2, 15 warning signs selected on the basis of retrospective study; and Groups 3-7, detailed questions concerning each sign. Scoring weights assigned to each condition based on the results of the retrospective study, and threshold values were determined by several neurosurgeons. The certainty factors for intermediate hypotheses were calculated from these weights and threshold values and summed up, from which the conclusion was obtained. Twelve new cases of unruptured cerebral aneurysm were diagnosed using this screening system. This system may improve the ability to diagnose cerebral aneurysms before rupture. (author).

  14. Mitochondrial Neurogastrointestinal Encephalomyopathy Presenting as Anorexia Nervosa.

    Science.gov (United States)

    Demaria, Francesco; De Crescenzo, Franco; Caramadre, Anna Maria; D'Amico, Adele; Diamanti, Antonella; Fattori, Fabiana; Casini, Maria Pia; Vicari, Stefano

    2016-12-01

    Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare multisystemic autosomal recessive disorder mainly caused by mutations in the nuclear gene TYMP, encoding thymidine phosphorylase. It generally appears in childhood and is clinically characterized by severe gastrointestinal dysmotility, cachexia, ptosis, progressive external ophthalmoplegia, peripheral neuropathy, and diffuse leukoencephalopathy on brain magnetic resonance imaging. The disease is clinically heterogeneous with the main symptoms being gastrointestinal, with an important weight loss. Symptoms might worsen rapidly, and a timely diagnosis is vital. However, patients report retrospectively their first symptoms before the age of 12 years, but the delay in diagnosis varies from 5 to 10 years. In the present study, we report a case of an adolescent with MNGIE, which was initially, and erroneously, diagnosed as anorexia nervosa. To make a timely and accurate differential diagnosis, we will discuss the clinical differences and similarities between MNGIE and anorexia nervosa and the importance of a multidisciplinary evaluation. Copyright © 2016 Society for Adolescent Health and Medicine. Published by Elsevier Inc. All rights reserved.

  15. Use of Botulinum toxin in 55 children with cerebral palsy

    Directory of Open Access Journals (Sweden)

    Mohammadi M

    2000-10-01

    Full Text Available Botulinum toxin A (BTA inhibits presynaptic release of acetylcholine at the neuromuscular junction and has reportedly been successful in the treatment of spastic disorders.To evaluate the effect of botulinum toxin on cerebral palsied children with spastic or mixed type of the disease, especially those patiens having spasticity as a cardinal symptom without joint contracture, we designed the following study. Ninety-one cases (55 of referred patients to pediatic Neurology outpatient clinics of children’s Medical Center were given BTA injections in affected muscles of the lower limb. They were reevaluating 3 to 5 weeks and 3 months later for type of walking and range of affected joints’ movement. The study showed a clinically significant gait improvement in 71.2% of patients (P<0.0005 and also an overall increased range of motion in affected limbs after BTA injection (P<0.04. Side effects occurred only in two cases as transient generalized weakness, gent recurvatum and ptosis. Drug effectiveness was time-limited, lasting abot 3 months in all patients ( a golden time for rehabilitation therapists to improve the patients’ condition. Overall, BTA has improved both the type of walking as well as the range of joints motion in our patients. So its’ administration is suggested in cerebral palsied children if the spasticity is a major and disabling sign

  16. A patient with cerebral Whipple disease with gastric involvement but no gastrointestinal symptoms: a consequence of local protective immunity?

    Science.gov (United States)

    Prüss, Harald; Katchanov, Juri; Zschenderlein, Rolf; Loddenkemper, Christoph; Schneider, Thomas; Moos, Verena

    2007-08-01

    Whipple disease is a granulomatous infectious disease caused by Tropheryma whipplei. The bacteria accumulate within macrophages, preferentially in the intestinal mucosa. Disease manifestation seems to be linked to immunological abnormalities of macrophages. We describe a patient with cerebral Whipple disease who presented with changes in mental status, confusion, inverse sleep-wake cycle, bilateral ptosis and vertical gaze palsy. Endoscopic biopsy sampling revealed Whipple disease in the gastric antrum but not in the duodenum. Whole blood stimulation displayed reactivity to T. whipplei that was at the lower end of healthy controls while reactivity of duodenal lymphocytes was not diminished. We propose that in cases of neurological symptoms suspicious of Whipple disease with normal duodenal and jenunal findings, biopsy sampling should be extended to the gastric mucosa. The robust reactivity of duodenal lymphocytes may have prevented our patient from developing small bowel disease, whereas the impaired reactivity in peripheral blood lymphocytes might yet explain the bacterial spreading to the central nervous system leading to the rare case of predominant neurological symptoms without relevant systemic involvement.

  17. A traumatic case of Weber's syndrome

    International Nuclear Information System (INIS)

    Shirakuni, Takayuki; Tamaki, Norihiko; Matsumoto, Satoshi; Ishida, Kazuhiko; Fujiwara, Masayasu.

    1983-01-01

    The present authors encountered a rare traumatic case of Weber's syndrome in which computerized tomography (CT) revealed a hematoma localized in the tegmentum of the midbrain. This 49-year-old male was admitted because of a disturbed consciousness level caused by a hit on the right frontal area in a traffic accident. A neurological examination on admission disclosed Weber's syndrome: a dilatation of the right pupil, no reaction to direct or indirect light stimuli, ptosis of the right eyelid, lateral deviation of the right eyeball, and left hemiparesis with increased deep tendon reflexes and Babinski's sign. CT revealed a high-density area localized in the tegmentum of the midbrain, but interpeduncular and quadrigeminal cisterns were patent. After admission, his motor function and level of consciousness have showed improvement with medical treatment, but his right oculomotor palsy is unchanged. CT performed 7 days after admission showed a low-density area in place of the absorbed hematoma. In this case, we cannot explain the mechanism of the primary brain-stem injury. However, there are four possible mechanisms: nerve avulsion, neurovascular friction, localized contusion, and shear strain injury. Careful consideration of the anatomical relationship shows that it is likely that the lesion was a contusional hemorrhage caused by impact on the tentorial edge. (author)

  18. A Right-sided Aortic Arch with Kommerell's Diverticulum of the Aberrant Left Subclavian Artery Presenting with Syncope

    Directory of Open Access Journals (Sweden)

    Ming-Hsun Yang

    2009-05-01

    Full Text Available A right-sided aortic arch with an aneurysm of the aberrant subclavian artery is a rare disease. We report a case of Kommerell's diverticulum of an aberrant left subclavian artery in a patient with a right-sided aortic arch. Fewer than 50 cases have been reported in the literature. A number of operative strategies are described. Right thoracotomy provides good exposure and avoids the morbidity associated with bilateral thoracotomy or sternotomy and thoracotomy. In our patient with symptoms of dysphagia, syncope, and left subclavian steal syndrome, a left thoracotomy was used. The repair was accomplished by division of a left ligamentum arteriosum, obliteration of the Kommerell's aneurysm, and an aorto-subclavian bypass. Postoperative complications included left vocal cord palsy and Horner's syndrome. Hoarseness and left ptosis recovered spontaneously 3 months after surgery, and the patient remained symptom-free at the 1-year follow-up. We believe a left thoracotomy for direct repair of Kommerell's diverticulum is a simple and safe method without the increased morbidity found in other procedures.

  19. Anti-snake venom: use and adverse reaction in a snake bite study clinic in Bangladesh

    Directory of Open Access Journals (Sweden)

    MR Amin

    2008-01-01

    Full Text Available Snakebites can present local or systemic envenomation, while neurotoxicity and respiratory paralysis are the main cause of death. The mainstay of management is anti-snake venom (ASV, which is highly effective, but liable to cause severe adverse reactions including anaphylaxis. The types of adverse reaction to polyvalent anti-snake venom have not been previously studied in Bangladesh. In this prospective observational study carried out between 1999 and 2001, in the Snake Bite Study Clinic of Chittagong Medical College Hospital, 35 neurotoxic-snake-bite patients who had received polyvalent anti-snake venom were included while the ones sensitized to different antitoxins and suffering from atopy were excluded. The common neurotoxic features were ptosis (100%, external ophthalmoplegia (94.2%, dysphagia (77.1%, dysphonia (68.5% and broken neck sign (80%. The percentage of anti-snake venom reaction cases was 88.57%; pyrogenic reaction was 80.64%; and anaphylaxis was 64.51%. The common features of anaphylaxis were urticaria (80%; vomiting and wheezing (40%; and angioedema (10%. The anti-snake venom reaction was treated mainly with adrenaline for anaphylaxis and paracetamol suppository in pyrogenic reactions. The average recovery time was 4.5 hours. Due to the danger of reactions the anti-snake venom should not be withheld from a snakebite victim when indicated and appropriate guidelines should be followed for its administration.

  20. The "pixie" ear deformity following face lift surgery revisited.

    Science.gov (United States)

    Mowlavi, Arian; Meldrum, D Garth; Wilhelmi, Bradon J; Russell, Robert C; Zook, Elvin G

    2005-04-01

    The "pixie" ear deformity can be recognized by its "stuck on" or "pulled" appearance, which is caused by the extrinsic pull of the medial cheek and jawline skin flaps at the earlobe attachment point, the otobasion inferius. The tension results in migration of the otobasion inferius from a posterior cephalad position to an anterior caudal position. Although this deformity has been described clinically, it has yet to be objectively defined. Recently, the two components of the earlobe, the attached cephalic segment (intertragal to otobasion inferius distance) and the free caudal segment (otobasion inferius to subaurale distance), were shown to be essential in evaluating for earlobe ptosis and pseudoptosis. These two components can be used to designate an objective criterion for the pixie ear deformity. The deformity, as defined by the authors' parameters, was assessed in 44 patients who had undergone rhytidectomy. A simple and accurate surgical treatment is demonstrated by a cadaver dissection and a clinical case. The deformity can be defined as an increase in the attached cephalic segment (intertragal to otobasion inferius distance) and a decrease in the free caudal segment (otobasion inferius to subaurale distance) to 0 mm following rhytidectomy. The incidence of pixie ear deformity was 5.7 percent in the authors' series of patients. A medially based triangular excision over the attached cephalic segment is presented as a simple and accurate surgical treatment of pixie ear deformity. A more accurate and objective designation may allow for improved detection, avoidance, and treatment of this deformity.

  1. A novel specialized suture and inserting device for the resuspension of ptotic facial tissues: early results.

    Science.gov (United States)

    Bisaccia, Emil; Kadry, Razan; Saap, Liliana; Rogachefsky, Arlene; Scarborough, Dwight

    2009-04-01

    In the past decade, the popularity of minimally invasive procedures for facial rejuvenation has increased. To describe a new specialized suture, and its associated technique, used to elevate sagging tissues of the face and neck. A detailed description of the technique and the results obtained in 20 patients in whom we have used this novel approach. Attention was given to appropriate patient selection. The primary focus was on the correction of the jowl, jawline, and neck subunits. It involves the percutaneous introduction of a novel 3-0 polypropylene suture that has 10 absorbable hollow cones along its axis that are equally interspersed with knots. Once the absorbable cones are resorbed into the surrounding tissues, the non-absorbable suture component can be removed without compromising the aesthetic outcome. All patients demonstrated improvement in these areas, with minimal complications. One patient required resuspension using the open technique. (Excessive ptotic tissue was later excised for an optimal cosmetic result.) The suture and technique described in this article provide a major contribution to the correction of ptosis of facial tissues. When done in conjunction with other procedures, such as neck and jowl microliposuction, this technique has proven to be a useful addition to facial rejuvenation.

  2. The eye as a window to rare endocrine disorders

    Science.gov (United States)

    Chopra, Rupali; Chander, Ashish; Jacob, Jubbin J.

    2012-01-01

    The human eye, as an organ, can offer critical clues to the diagnosis of various systemic illnesses. Ocular changes are common in various endocrine disorders such as diabetes mellitus and Graves’ disease. However there exist a large number of lesser known endocrine disorders where ocular involvement is significant. Awareness of these associations is the first step in the diagnosis and management of these complex patients. The rare syndromes involving the pituitary hypothalamic axis with significant ocular involvement include Septo-optic dysplasia, Kallman's syndrome, and Empty Sella syndrome all affecting the optic nerve at the optic chiasa. The syndromes involving the thyroid and parathyroid glands that have ocular manifestations and are rare include Mc Cune Albright syndrome wherein optic nerve decompression may occur due to fibrous dysplasia, primary hyperparathyroidism that may present as red eye due to scleritis and Ascher syndrome wherein ptosis occurs. Allgrove's syndrome, Cushing's disease, and Addison's disease are the rare endocrine syndromes discussed involving the adrenals and eye. Ocular involvement is also seen in gonadal syndromes such as Bardet Biedl, Turner's, Rothmund's, and Klinefelter's syndrome. This review also highlights the ocular manifestation of miscellaneous syndromes such as Werner's, Cockayne's, Wolfram's, Kearns Sayre's, and Autoimmune polyendocrine syndrome. The knowledge of these relatively uncommon endocrine disorders and their ocular manifestations will help an endocrinologist reach a diagnosis and will alert an ophthalmologist to seek specialty consultation of an endocrinologist when encountered with such cases. PMID:22629495

  3. Horner's syndrome in patients admitted to the intensive care unit that have undergone central venous catheterization: a prospective study.

    Science.gov (United States)

    Butty, Z; Gopwani, J; Mehta, S; Margolin, E

    2016-01-01

    PurposeCentral venous catheterization (CVC) is estimated to be performed in millions of patients per year. Swan-Ganz catheters used for CVC are most often inserted into the internal jugular vein and during this procedure they may come into contact with the sympathetic chain. This study aims to determine the incidence of Horner's syndrome in patients admitted to intensive care unit that have undergone internal jugular CVC insertion during their admission and to determine whether ultrasonography-assisted insertion has decreased the frequency of this complication.Patients and methodsA total of 100 prospective patients admitted to the ICU were examined for the presence of anisocoria and ptosis after undergoing recent CVC. Presence of Horner's syndrome was confirmed by testing with 0.5% apraclonidine and looking for the reversal of anisocoria.ResultsFrequency of Horner's syndrome after CVC was 2% in a sample of 100 prospectively examined patients.ConclusionHorner's syndrome remains a relatively rare but definitive complication of CVC. ICU physicians should be educated about its existence and prevalence and ophthalmologists should inquire about any history of ICU admission necessitating CVC insertion in any patient presenting with Horner's syndrome.

  4. Ritidectomía frontal bicoronal subaponeurótica

    Directory of Open Access Journals (Sweden)

    Julio César Gálvez Chávez

    2002-12-01

    Full Text Available Para el tratamiento del envejecimiento del tercio superior de la cara se han empleado diversas técnicas quirúrgicas. El abordaje bicoronal ha sido el más utilizado, pero a su vez el que más variantes y modificaciones ha tenido. Con este trabajo los autores se proponen evaluar los resultados de la ritidectomía frontal bicoronal siguiendo un mismo procedimiento dado por la disección subaponeurótica hasta los rebordes orbitarios, sección horizontal múltiple del músculo frontal y prócer, así como disección y sección de los músculos corrugadores. Solo se modificó la localización de la incisión frontal en dependencia de la longitud de la frente. Fueron operados 31 pacientes y se evaluaron los resultados a los 6 meses de la operación. Con la técnica empleada se modificaron las arrugas frontoglabelares hacia el borramiento o la desaparición, la ptosis de las cejas se corrigió de forma armoniosa y las complicaciones fueron escasas y poco relevantes. No se produjo afectación de la mímica frontoglabelar

  5. Surgical management of third nerve palsy

    Science.gov (United States)

    Singh, Anupam; Bahuguna, Chirag; Nagpal, Ritu; Kumar, Barun

    2016-01-01

    Third nerve paralysis has been known to be associated with a wide spectrum of presentation and other associated factors such as the presence of ptosis, pupillary involvement, amblyopia, aberrant regeneration, poor bell's phenomenon, superior oblique (SO) overaction, and lateral rectus (LR) contracture. Correction of strabismus due to third nerve palsy can be complex as four out of the six extraocular muscles are involved and therefore should be approached differently. Third nerve palsy can be congenital or acquired. The common causes of isolated third nerve palsy in children are congenital (43%), trauma (20%), inflammation (13%), aneurysm (7%), and ophthalmoplegic migraine. Whereas, in adult population, common etiologies are vasculopathic disorders (diabetes mellitus, hypertension), aneurysm, and trauma. Treatment can be both nonsurgical and surgical. As nonsurgical modalities are not of much help, surgery remains the main-stay of treatment. Surgical strategies are different for complete and partial third nerve palsy. Surgery for complete third nerve palsy may involve supra-maximal recession - resection of the recti. This may be combined with SO transposition and augmented by surgery on the other eye. For partial third nerve, palsy surgery is determined according to nature and extent of involvement of extraocular muscles. PMID:27433033

  6. A Family Outbreak of Foodborne Botulism Following Consumption of Home-Canned Doogh in Hamadan, West of Iran

    Directory of Open Access Journals (Sweden)

    Hashemi

    2015-02-01

    Full Text Available Background Food-borne botulism is one of the potentially fatal forms of food poisoning, usually caused by ingestion of home-canned vegetables, fruits and fish products. Objectives The aim of this study was to report an outbreak of botulism due to homemade doogh in Hamadan, Iran. Patients and Methods During an outbreak, 10 members of a family referred to the hospital because of food poisoning. All patients had a history of consumption of doogh, a traditional drink. After careful physical examination, all of them were hospitalized. Botulism was suspected in all patients except for the first patient. Results The first patient was a 76-year-old man who died after 12 hours of admission due to respiratory distress. Nine subsequent patients were diagnosed as botulism with the following symptoms: diplopia (90%, dizziness (70%, nausea and vomiting (80%, ptosis (60%, symmetric weakness of extremities (60%, dysarthria (30%, chest discomfort (30%, mydriasis (20%, dysphasia (20% and dry mouth (20%. All of the nine patients received botulinum antitoxin and improved during 5-15 days of hospitalization. Conclusions Immediate diagnosis based on careful history and physical examination are essential for management of botulism. People should be notified about proper food handling and preparation of traditional homemade foods.

  7. Myasthenia gravis in a patient affected by glycogen storage disease type Ib: a further manifestation of an increased risk for autoimmune disorders?

    Science.gov (United States)

    Melis, D; Balivo, F; Della Casa, R; Romano, A; Taurisano, R; Capaldo, B; Riccardi, G; Monsurrò, M R; Parenti, G; Andria, G

    2008-12-01

    Glycogen storage disease type Ib (GSD Ib, OMIM 232220) is an inborn disorder of glucose metabolism, caused by mutations in the G6PT gene, encoding a glucose 6-phosphate transporter (G6PT). GSD Ib is mainly associated with fasting hypoglycaemia and hepatomegaly. Most GSD Ib patients also show neutropenia and neutrophil dysfunction and therefore are at risk of developing severe infections and inflammatory bowel disease (IBD). An increased risk for autoimmune disorders, such as thyroid autoimmunity and Crohn-like disease, has also been demonstrated, but no systematic study on the prevalence of autoimmune disorders in GSD Ib patients has ever been performed. We describe a 25-year-old patient affected by GSD Ib who developed 'seronegative' myasthenia gravis (MG), presenting with bilateral eyelid ptosis, diplopia, dysarthria, severe dysphagia, dyspnoea and fatigue. The repetitive stimulation of peripheral nerves test showed signs of exhaustion of neuromuscular transmission, particularly evident in the cranial area. Even in the absence of identifiable anti-acetylcholine receptor antibodies, seronegative MG is considered an autoimmune disorder and may be related to the disturbed immune function observed in GSD Ib patients.

  8. Antidepressant-like effect of peony glycosides in mice.

    Science.gov (United States)

    Mao, Qing-Qiu; Ip, Siu-Po; Tsai, Sam-Hip; Che, Chun-Tao

    2008-09-26

    The root part of Paeonia lactiflora Pall. (Ranunculaceae), known as peony, is often used in Chinese herbal formulae for the treatment of depression-like disorders. Previous studies in our laboratory have shown that an ethanol extract of peony produced antidepressive effects in mouse models of depression. It is well known that peony contains glycosides such as paeoniflorin and albiflorin, yet it remains unclear whether the total glycosides of peony (TGP) are effective. The present study aims to evaluate the antidepressant-like effects of TGP. The antidepressant-like effects of TGP was determined by using animal models of depression including forced swim and tail suspension tests. The acting mechanism was explored by determining the effect of TGP on the activities of monoamine oxidases. Intragastric administration of TGP at 80 and 160 mg/kg for seven days caused a significant reduction of immobility time in both forced swim and tail suspension tests, yet TGP did not stimulate locomotor activity in the open-field test. In addition, TGP treatment antagonized reserpine-induced ptosis and inhibited the activities of monoamine oxidases in mouse cerebrum. These results suggest that the antidepressive effects of TGP are mediated, at least in part, by the inhibition of monoamine oxidases.

  9. Brainstem encephalitis and acute polyneuropathy associated with hepatitis E infection.

    Science.gov (United States)

    Salim, Omar Jabbar; Davidson, Amy; Li, Kathy; Leach, John Paul; Heath, Craig

    2017-09-11

    A 59-year-old man presented with feverish illness. His Glasgow Coma Scale was 15, had reduced visual acuity in the left eye with partial left ptosis and mild left hemiparesis with an extensor left plantar. Over 48 hours, he accrued multiple cranial nerves palsies and progressed to a flaccid paralysis necessitating admission to an intensive care unit.Cerebrospinal fluid (CSF) study showed 20 lymphocytes and raised protein. Viral and bacterial PCRs were negative. Samples for Lyme, blood-borne viruses, syphilis and autoantibodies were also negative. MRI brain showed T2 abnormalities within the brainstem. Nerve conduction studies revealed an acute motor and sensory axonal neuropathy pattern of Guillian Barre Syndrome (GBS). The patient was treated for both infective and inflammatory causes of brainstem encephalitis and GBS.Retrospective studies confirmed the presence of hepatitis E virus (HEV) RNA in CSF and serum studies showed positive HEV IgG and IgM prior to intravenous infusion. After 3 months of intensive rehabilitation, the patient was discharged home walking with a frame. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  10. Linfoma primario del sistema nervioso central en un paciente inmunocompetente

    Directory of Open Access Journals (Sweden)

    José Málaga-Zenteno

    2012-07-01

    Full Text Available El linfoma primario del sistema nervioso central (LPSNC constituye el 2% de los linfomas extranodales y entre 0,3% y 1,5% de todas las neoplasias intracraneales en pacientes inmunocompetentes, siendo más frecuente a partir de los 60 años. Reportamos el caso de un paciente varón de 76 años, sin antecedentes médicos de importancia, que inició su enfermedad con inestabilidad en la marcha, dificultad para mover el hemicuerpo izquierdo, a predominio braquial, cefalea holocraneal y mareos. Ingresó a emergencia despierto, parcialmente desorientado, Glasgow 14 y ptosis palpebral derecha; además, hemiparesia e hipoestesia izquierda, a predominio crural. Por tomografía computarizada cerebral se evidenció imagen captadora de contraste en región frontoparietal derecha, intra y extra craneal, edema cerebral y desplazamiento de la línea media. Se realizó craneotomía y biopsia del tumor, diagnosticándose linfoma difuso de células grandes B del sistema nervioso central. Fue VIH negativo. Se descartó otro tumor primario y metástasis. Recibió esquema CHOD/BVAM y radioterapia. Evolucionó favorablemente. Según resonancia magnética cerebral postratamiento, desapareció el tumor.

  11. Classification and management of gynecomastia: defining the role of ultrasound-assisted liposuction.

    Science.gov (United States)

    Rohrich, Rod J; Ha, Richard Y; Kenkel, Jeffrey M; Adams, William P

    2003-02-01

    Gynecomastia, or excessive male breast development, has an incidence of 32 to 65 percent in the male population. This condition has important physical and psychological impacts. Advances in elucidating the pathophysiology of gynecomastia have been made, though understanding remains limited. Recommendations for evaluation and workup have varied and are often arbitrary. A diagnostic algorithm is suggested, with emphasis on a comprehensive history, physical examination, and minimizing unnecessary diagnostic testing. Medical management has had limited success; surgical therapy, primarily through excisional techniques, has been the accepted standard. Although effective, excisional techniques subject patients to large, visible scars. Ultrasound-assisted liposuction has recently emerged as a safe and effective method for the treatment of gynecomastia. It is particularly efficient in the removal of the dense, fibrous male breast tissue while offering advantages in minimal external scarring. A new system of classification and graduated treatment is proposed, based on glandular versus fibrous hypertrophy and degree of breast ptosis (skin excess). The authors' series of 61 patients with gynecomastia from 1987 to 2000 at the University of Texas Southwestern Department of Plastic Surgery demonstrated an overall success rate of 86.9 percent using suction-assisted lipectomy (1987 to 1997) and ultrasound-assisted liposuction (1997 to 2000). The authors have found ultrasound-assisted liposuction to be effective in treating most grades of gynecomastia. Excisional techniques are reserved for severe gynecomastia with significant skin excess after attempted ultrasound-assisted liposuction.

  12. Neurologic deterioration with progressive CT changes in a child with Kearns-Shy syndrome

    International Nuclear Information System (INIS)

    Yoda, Satoru; Kitahara, Fuminori; Akabane, Taro; Terauchi, Akiko.

    1984-01-01

    A case of the rare juvenile form of Kearns-Shy syndrome with progressive external ophthalmoplegia and lid ptosis, carditis, skeletal muscle weakness, seizures, mental subnormality, short stature, EEG abnormality and deafness is presented. Electromyography revealed a myopathic pattern. Histochemical studies on quadriceps biopsy specimens showed atrophy of type II fibers and ''ragged-red fibers.'' On electron microscopy these muscle cells were seen to contain an increased amount of glycogen particles and abnormal mitochondria were increased in number and size. It is of interest that abrupt deterioration of neurological findings such as seizures, mental subnormality, speech disturbance and deafness was present in our case. Computed tomographic scanning showed progressive changes of cerebral atrophy, low density of cerebral white matter and basal ganglia calcification, which were well associated with the clinical deterioration. A review of the literature also indicated that some patients with this syndrome showed abrupt neurological deterioration in childhood. Involvement of the central nervous system in this syndrome has to be considered as the cause of sudden deterioration and death in childhood. (author)

  13. Retirada de implantes mamarios y corrección simultánea con colgajo dermoglandular inferior: técnica de mastopexia con autoprótesis

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    A. Rancati

    2014-09-01

    Full Text Available Los cirujanos plásticos nos enfrentamos cada vez con más frecuencia en nuestra consulta a pacientes que desean o necesitan retirar sus implantes mamarios. Algunas de estas pacientes rechazan la idea de un reemplazo protésico, pero son exigentes con el resultado cosmético postoperatorio. Describimos la técnica empleada en 68 casos consecutivos y los resultados que hemos obtenido al tratar las secuelas en la mama tras la retirada de los implantes, fundamentalmente una disminución de volumen asociada a ptosis y excedente cutáneo. Esta técnica se basa en la extracción de los implantes y correccion mamaria simultanea con colgajo dermoglandular inferior que denominamos "autoprotesis" asociado a injerto graso simultáneo. Los resultados logran mejorar la forma, proyección y conificacion de la mama tras la retirada de los implantes, con un alto grado de satisfacción por parte de las pacientes.

  14. A case of giant prolactinoma, initially misdiagnosed as sinonasal neuroendocrine carcinoma

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    Yasaman Mohtasebi, M.D.

    2015-09-01

    Full Text Available Giant prolactinomas are defined as pituitary tumors greater than 4 cm, often associated with very high prolactin level (>1000 ng/mL. They are relatively rare tumors and can present differently from typical prolactinomas. They can be highly invasive, resulting in acute neurological complication at the time of presentation. We present a case of a young woman with giant prolactinoma initially misdiagnosed as sinonasal neuroendocrine carcinoma. The acute presentation of headache, ptosis and impending brain herniation, requiring emergent ventriculostomy and intubation, led to the clinical suspicion of a more sinister diagnosis. Transnasal biopsy of the mass was consistent with sinonasal neuroendocrine carcinoma, and chemotherapy was planned. Laboratory testing, however, revealed an elevated prolactin (27,400 ng/mL, after 1:100 dilution. Re-review of pathology with additional immunohistochemical staining was requested and confirmed the diagnosis of prolactinoma. After 5 months of cabergoline treatment, prolactin level has decreased to 118 ng/mL. There has been a marked reduction in tumor size and an almost complete resolution of neurological symptoms. Given their atypical presentation and potential for sharing common immunohistochemical stains with other neuroendocrine neoplasms, giant prolactinomas extending into the nasal cavity can be misdiagnosed as other neuroendocrine neoplasms which may develop at this site. Accurate diagnosis is imperative to prevent unnecessary surgery and/or radiation and to ensure implementation of dopamine agonist therapy.

  15. An association of myasthenia gravis with Hashimoto’s thyroiditis in a patient with a multinodular goitre

    Directory of Open Access Journals (Sweden)

    Nik Siti Fatimah Mohamed

    2017-08-01

    Full Text Available Introduction: The association of myasthenia gravis (MG with other autoimmune diseases including autoimmune thyroid disease (ATD is well recognised, although rare. The occurrence of both diseases can occur in two ways: either disease preceding the other, or concurrently. The presentation of MG in association with ATD can range from ocular to generalised disease. Case Summary: A 26-year-old Malay female with persistent hyperthyroidism secondary to Hashimoto’s thyroiditis in multinodular goitre was diagnosed with generalised MG after 2 years. She presented with right eye ptosis (ocular and difficulty in swallowing and chewing (bulbar. The diagnosis of MG was confirmed by fatigability testing, electromyography and the presence of AChR antibodies. Her symptoms showed improvement with pyridostigmine (Mestinon 60 mg 6-hourly. Her antithyroid drug was tapered down according to her thyroid function test. Throughout a year of follow-ups, her hyperthyroidism and fatigability symptoms improved with treatment. She was later counselled for total thyroidectomy and thymectomy. Conclusion: Myasthenia gravis and hyperthyroidism may present with similar symptoms such as dysphagia due to neuromuscular weakness or fatigue. When the diseases occur together, one of the diagnoses may be missed. Therefore, the occurrence of new symptoms in a patient with underlying ATD should should trigger the early identification of other autoimmune diseases by primary care doctors.

  16. Work ability evaluation in neurosarcoidosis: A case report

    Directory of Open Access Journals (Sweden)

    Milovanović Aleksandar P.S.

    2006-01-01

    Full Text Available Sarcoidosis is a multisystemic granulomatous disease of unknown etiology which affects most frequently the hilar lymph nodes and lungs. Symptomatic involvement of the central nervous system may develop in patients diagnosed with sarcoidosis or it may be the initial manifestation of the disease. This is a case report of 48-year old female patient admitted to our clinic for evaluation of working ability. The patient had a total of 24 years of service and occupational exposure and she has been employed as supplies procurement officer. On admission, she complained of the following discomforts: eye-lid pain, intellectual fatigue, psychic uneasiness, forgetfulness, dyspnea and productive cough. Neurological findings indicated the presence of the right eye ophthalmoplegia, psychoorganic syndrome and neurosarcoidosis. Ophthalmological examination evidenced bilateral ptosis and presence of anisocoria. Magnetic resonance imaging revealed discrete focal lesions of the pons (paracentral left and parietal corona radiata of the left hemisphere. Based on performed examinations and diagnostics procedures, final evaluation of patient’s working ability concluded that the patient was not capable of psychic strains and jobs associated with material accountability.

  17. Identification of internal carotid dissection in patients with migraine--case report and literature review

    International Nuclear Information System (INIS)

    Sharif, M.; Trinick, T.; Khan, H.Y.

    2010-01-01

    Although patho-physiology of spontaneous internal carotid artery dissection (sICAD) is largely unknown, an association with migraine has been suggested but not proven. Migraine is a condition which is worth considering while one is hunting a possible cause for internal carotid artery dissection (ICAD) and it may be found more often than expected.2 To date it remains a diagnosis of exclusion in patients with migraine. As opposed to migraine with aura, migraine without aura is significantly more frequent among patients with SICAD. It has been suggested that ICAD produces stroke in 36-68% of patients as a result of occlusion of the artery at or near the site of the dissection, or embolization occurring distally from a dislodged fragment of thrombus. We report a 31-year old woman with headache and ptosis as initial symptoms. Magnetic resonance imaging (MRI) confirmed the diagnosis. Prompt treatment was instituted with anti-platelet agents and the patient had complete resolution of symptoms. Our case report highlights the importance of identifying the patients with ICD with history of migraine, in the absence of other risk factors and adds to the sparse literature currently available on the subject. (author)

  18. Intense pulsed light for photo-rejuvenation and freckles of middle eastern skin

    International Nuclear Information System (INIS)

    El Bedewi, A.F.

    2003-01-01

    Facial ageing is a gradual process which could be due to intrinsic and extrinsic causes and it ultimately results in the appearance of activity induced tissue ptosis, wrinkles, epidermal and dermal artoply, dryness, senile lentigo, flushing, telangiectasia and enlarged pores. Moreover, freckles are frequently seen on the face and other sun exposed areas and it is characterized with incrreased melanin in the epidermis. Intense Pulsed Light (IPL)is the latest technology for selective photo-thermolysis as a non-ablative photo-rejuvenation. Thirty-four patients of age ranging between 35- 70 years with skin type ranging between III-V with or without freckles were treated with 3-5 sessions of IPL. Three weeks intervals were considered between every two succesive session. Irradiation wavelength was controlled using cutoff filters ranging from 535 to 580 nmwith a fluence of 25-35 j/cm-2. Significant improvement was demonstrated after 6 months by computerized image analysis compared with the baseline. IPL was found to be effective and saf treatment for fine wrinkles, facial freckles, telangiectasia, flushing as well as post-inflammatory hyper-pigmentation with a high satisfactory level and a relatively afew adverse effects

  19. Some cogent observations on amoebic hepatopathies using radioactive rose bengal

    Energy Technology Data Exchange (ETDEWEB)

    Sharma, B N; Jha, B K

    1975-08-01

    Amoebic hepatopathies in this paper refers to three clinical syndromes described as hepatic amoebiasis, liver abscess and amoebic hepatitis. Forty-six patients with clinical symptomatology suggestive of amoebic hepatopathy were investigated with /sup 131/I rose bengal. Size, shape, position and parenchymal functions of their livers were estimated by assessing rose bengal blood clearance rate and scanning procedures. It was observed that there was true hepatomegaly and hepatic dysfunction in cases of hepatic abscess but not in amoebic hepatitis patients. Furthermore, hepatic abscess cases always had a ''cold'' area in their liver scans even at very early stage. On the other hand, amoebic hepatitis patients had normal size, shape and function of the liver--which was further confirmed by liver biopsy in five of them. These livers were palpable because of their low anatomical position (Ptosis). All the cases of hepatic abscess (except two) were treated by antiamoebic drugs without resorting to aspiration and serial scans showed complete resolution. Hence it is seen that aspiration in managing these cases (irrespective of the size) in early stages is not indicated at all. Thirty per cent of these patients developed jaundice and again size of the abscess was not critical. Surprisingly, amoebic hepatitis cases also showed improvement to oral anti-amoebic drugs. Liver, if at all involved in these cases, was due to chronic bowel disorders and treatment of bowel gives them symptomatic relief. However, no direct evidence could be brought out to prove existence of amoebic hepatitis by these techniques.

  20. Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome.

    Science.gov (United States)

    Eker, Hatice Koçak; Derinkuyu, Betül Emine; Ünal, Sevim; Masliah-Planchon, Julien; Drunat, Séverine; Verloes, Alain

    2014-01-01

    Baraitser-Winter syndrome (BRWS) is a rare condition affecting the development of the brain and the face. The most common characteristics are unusual facial appearance including hypertelorism and ptosis, ocular colobomas, hearing loss, impaired neuronal migration and intellectual disability. BRWS is caused by mutations in the ACTB and ACTG1 genes. Cerebro-fronto-facial syndrome (CFFS) is a clinically heterogeneous condition with distinct facial dysmorphism, and brain abnormalities. Three subtypes are identified. We report a female infant with striking facial features and brain anomalies (included polymicrogyria) that fit into the spectrum of the CFFS type 3 (CFFS3). She also had minor anomalies on her hands and feet, heart and kidney malformations, and recurrent infections. DNA investigations revealed c.586C>T mutation (p.Arg196Cys) in ACTB. This mutation places this patient in the spectrum of BRWS. The same mutation has been detected in a polymicrogyric patient reported previously in literature. We expand the malformation spectrum of BRWS/CFFS3, and present preliminary findings for phenotype-genotype correlation in this spectrum. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  1. Involvement of the Cerebral Monoamine Neurotransmitters System in Antidepressant-Like Effects of a Chinese Herbal Decoction, Baihe Dihuang Tang, in Mice Model

    Directory of Open Access Journals (Sweden)

    Meng-Li Chen

    2012-01-01

    Full Text Available Baihe Dihuang Tang (BDT is a renowned Chinese herbal formula which is commonly used for treating patients with mental instability, absentmindedness, insomnia, deficient dysphoria, and other psychological diseases. These major symptoms closely associated with the depressive disorders. BDT was widely popular use for treating emotion-thought disorders for many years in China. In the present study, the antidepressant-like effect of BDT in mice was investigated by using the forced swim test (FST and the tail suspension test (TST. The underlying mechanism was explored by determining the effect of BDT on the level of cerebral monoamine neurotransmitters. BDT (9 and 18 g/kg, p.o. for 14 days administration significantly reduced the immobility time in both the FST and the TST without changing locomotion in the open field-test (OFT. Moreover, BDT treatment at the dose of 18 g/kg inhibited reserpine-induced ptosis. Meanwhile, BDT enhanced 5-HT and NA levels in mouse cerebrum as well as decreased the ratio of 5-HT compared to its metabolite, 5-HIAA, (turnover, 5-HIAA/5-HT after TST. The results demonstrated that the antidepressant-like effect of BDT is mediated, at least partially, via the central monoaminergic neurotransmitter system.

  2. Plant natriuretic peptides: Systemic regulators of plant homeostasis and defense that can affect cardiomyoblasts

    KAUST Repository

    Gehring, Christoph A.

    2010-09-01

    Immunologic evidence has suggested the presence of biologically active natriuretic peptide (NPs) hormones in plants because antiatrial NP antibodies affinity purify biologically active plant NPs (PNP). In the model plant, an Arabidopsis thaliana PNP (AtPNP-A) has been identified and characterized. AtPNP-A belongs to a novel class of molecules that share some similarity with the cell wall loosening expansins but do not contain the carbohydrate-binding wall anchor thus suggesting that PNPs and atrial natriuretic peptides are heterologs. AtPNP-A acts systemically, and this is consistent with its localization in the apoplastic extracellular space and the conductive tissue. Furthermore, AtPNP-A signals via the second messenger cyclic guanosine 3′,5′-monophosphate and modulates ion and water transport and homeostasis. It also plays a critical role in host defense against pathogens. AtPNP-A can be classified as novel paracrine plant hormone because it is secreted into the apoplastic space in response to stress and can enhance its own expression. Interestingly, purified recombinant PNP induces apo-ptosis in a dose-dependent manner and was most effective on cardiac myoblast cell lines. Because PNP is mimicking the effect of ANP in some instances, PNP may prove to provide useful leads for development of novel therapeutic NPs. Copyright © 2013 by The American Federation for Medical Research.

  3. Acute and Chronic Toxicity, Cytochrome P450 Enzyme Inhibition, and hERG Channel Blockade Studies with a Polyherbal, Ayurvedic Formulation for Inflammation

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    Debendranath Dey

    2015-01-01

    Full Text Available Ayurvedic plants are known for thousands of years to have anti-inflammatory and antiarthritic effect. We have recently shown that BV-9238, a proprietary formulation of Withania somnifera, Boswellia serrata, Zingiber officinale, and Curcuma longa, inhibits LPS-induced TNF-alpha and nitric oxide production from mouse macrophage and reduces inflammation in different animal models. To evaluate the safety parameters of BV-9238, we conducted a cytotoxicity study in RAW 264.7 cells (0.005–1 mg/mL by MTT/formazan method, an acute single dose (2–10 g/kg bodyweight toxicity study and a 180-day chronic study with 1 g and 2 g/kg bodyweight in Sprague Dawley rats. Some sedation, ptosis, and ataxia were observed for first 15–20 min in very high acute doses and hence not used for further chronic studies. At the end of 180 days, gross and histopathology, blood cell counts, liver and renal functions were all at normal levels. Further, a modest attempt was made to assess the effects of BV-9238 (0.5 µg/mL on six major human cytochrome P450 enzymes and 3H radioligand binding assay with human hERG receptors. BV-9238 did not show any significant inhibition of these enzymes at the tested dose. All these suggest that BV-9238 has potential as a safe and well tolerated anti-inflammatory formulation for future use.

  4. Transient neonatal myasthenia gravis due to a mother with ocular onset of anti-muscle specific kinase myasthenia gravis.

    Science.gov (United States)

    Lee, Ju-Yeun; Min, Ju-Hong; Han, Sueng-Han; Han, Jinu

    2017-07-01

    We describe a 27-year-old pregnant female with new onset of conjugate gaze deficit during the third trimester of pregnancy. Repetitive nerve stimulation tests, neostigmine tests, and acetylcholine receptor antibody assays were all negative. The patient delivered a normal healthy baby at a local clinic via cesarean section. The baby became hypotonic and had respiratory failure several minutes after birth. The result of acetylcholine receptor antibody was negative in the neonate. The neonate became healthy spontaneously and was extubated after 21 days of ventilation care. Two months after delivery, the mother developed ptosis and generalized symptoms and subsequent workup revealed she was muscle specific kinase (MuSK) antibody positive. The neonate was presumed to have an anti-MuSK-mediated transient neonatal myasthenia gravis. Although MuSK antibody testing is rarely indicated in ocular myasthenia gravis, MuSK antibody testing is necessary in pregnant women who are presumed ocular myasthenia gravis to warn occurrence of transient neonatal myasthenia gravis. Copyright © 2017 Elsevier B.V. All rights reserved.

  5. Familial myasthenia gravis: report of four cases Miastenia grave familial: registro de quatro casos

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    José Lamartine de Assis

    1976-09-01

    Full Text Available Two pairs of siblings with myasthenia gravis, belonging to two different families, are reported. This is the only record of familial myasthenia during the past twenty years, in a total of 145 patients seen at the Neurological Clinic of the São Paulo Medical School. In spite of the fact that myasthenia gravis does not show hereditary characteristics, the peculiar features of the four cases justify the present report. The two pairs of siblings were born from non myasthenic nor consanguineous parents. The disease started at birth showing bilateral partial eyelid ptosis in all patients. The course of the illness has been favorable. There was no thymoma.Os autores registram dois pares de gêmeos com miastenia grave, pertencentes a duas famílias diferentes. Este é o único registro de miastenia familial durante os últimos 20 anos, num total de 145 pacientes examinados na Clínica Neurológica da FMUSP. Apesar do fato de a miastenia grave não ter características hereditárias, os aspectos peculiares dos quatro pacientes justificam o presente registro. Os dois pares de gêmeos nasceram de pais não miastênicos e sem consanguinidade. A doença iniciou-se no nascimento, evoluindo com ptose bilateral parcial da pálpebra superior precocemente em todos os pacientes. O curso da moléstia tem sido favorável. Não havia timoma.

  6. Ophthalmople gic cranial neuropathy: clinical case

    Directory of Open Access Journals (Sweden)

    N. S. Dozorova

    2018-01-01

    Full Text Available Ophthalmoplegic cranial neuropathy (OCN is a disease with unknown etiology, which manifests itself by episodes of intense headache, accompanied by completely or partially reversible dysfunction of the oculomotor nerve: ptosis, mydriasis and ophthalmoplegia. It is assumed that the pathology is demyelinating in nature, therefore in the International classification of headaches OCN excluded from rubric migraine and related to the painful cranial neuropathies. The question of the prevention and treatment of this disease is still controversial, the issue of the appointment of corticosteroids, calcium channel blockers and β-blockers, methods of surgical correction of strabismus and botulin therapy.The article describes OCN in an 11-year-old boy. In the clinical picture headache attacks were observed. These attacks were with signs of selective lesions of the oculomotor nerve on one side. These functional changes are recurrent, and fully regress between attacks. Laboratory and instrumental examinations revealed no pathology that could cause this symptom, including myasthenia. The described case demonstrates the classical picture of OCN with a favorable course and the partial damage of the oculomotor nerve on one side.

  7. Vincristine-induced neuropathy in pediatric patients with acute lymphoblastic leukemia in Oman: Frequent autonomic and more severe cranial nerve involvement.

    Science.gov (United States)

    Nazir, Hanan F; AlFutaisi, Amna; Zacharia, Mathew; Elshinawy, Mohamed; Mevada, Surekha T; Alrawas, Abdulhakim; Khater, Doaa; Jaju, Deepali; Wali, Yasser

    2017-12-01

    Vincristine (VCR) induced peripheral neuropathy is a common complication in children with acute lymphoblastic leukemia (ALL). A retrospective data analysis over an interval of 10 years (2006-2016) of all children with ALL seen at Sultan Qaboos University Hospital was carried out. Electronic medical records of eligible patients were reviewed. Patients with clinical evidence of neuropathy and abnormal nerve conduction studies (NCSs) were included in the study. Nineteen (nine females and 10 males) out of 103 pediatric patients developed VCR-related neuropathy, and their age ranged between 2.5 and 14 years. Symptoms started after 2-11 doses of VCR. All 19 patients had documented peripheral neuropathy on NCSs. The autonomic nervous system and cranial nerves affection was relatively common in our patients; two presented with bradycardia, two patients with unexplained tachycardia, and five had abdominal pain and constipation, complicated by typhlitis in two patients. One patient developed unilateral hearing loss. Two patients developed severe life-threatening cranial nerve involvement with bilateral ptosis and recurrent laryngeal nerve involvement presented as vocal cord paralysis, hoarseness of voice, frequent chocking, and aspiration episodes. Peripheral neuropathy was the commonest form of VCR-related neuropathy. Autonomic neuropathy was relatively common in our patients. Cranial neuropathy is a serious side effect of VCR that can be severe, involving multiple cranial nerves and needs prompt recognition and management. Concomitant administration of pyridoxine and pyridostigmine does not seem to protect against further neurological damage in some patients. © 2017 Wiley Periodicals, Inc.

  8. Anti-Ma2–associated limbic encephalitis with coexisting chronic inflammatory demyelinating polyneuropathy in a patient with non-Hodgkin lymphoma

    Science.gov (United States)

    Ju, Weina; Qi, Baochang; Wang, Xu; Yang, Yu

    2017-01-01

    Abstract Rationale: We report the rare case of a 74-year-old man with anti-Ma2–associated paraneoplastic neurologic syndrome (PNS), and review and analyze the clinical manifestations, diagnosis, and treatment of the disease. Patient concerns: The patient presented with a 5-month history of muscle weakness, progressive body aches, and weakness and numbness in both lower extremities. Before his hospitalization, he had experienced cognitive function decline; ptosis, inward gaze, and vertical gaze palsy in the right eye; and occasional visual hallucinations. Brain and spinal cord magnetic resonance imaging (MRI) yielded normal results. Anti-Ma2 antibodies were detected in both serum and cerebrospinal fluid. A 4-hour electroencephalogram showed irregular sharp slow waves and δ waves in the temporal region. Electromyography showed peripheral nerve demyelination. Positron-emission tomography/computed tomography (PET-CT) examination revealed hypermetabolism in the lymph nodes of the whole body. Biopsy of the lymph nodes showed non-Hodgkin lymphoma. Diagnosis: A clinical diagnosis of lymphoma and PNS was made. Interventions: The patient was treated with intravenous dexamethasone (15 mg/day) for 3 days. Lessons: We have presented a rare case of a PNS involving both the central and peripheral nervous systems. The clinical features of this case indicated anti-Ma2–associated encephalitis and chronic inflammatory demyelinating polyneuropathy. PET-CT played a critical role in enabling early diagnosis and prompt treatment in this case. PMID:28984777

  9. Anti-Ma2-associated limbic encephalitis with coexisting chronic inflammatory demyelinating polyneuropathy in a patient with non-Hodgkin lymphoma: A case report.

    Science.gov (United States)

    Ju, Weina; Qi, Baochang; Wang, Xu; Yang, Yu

    2017-10-01

    We report the rare case of a 74-year-old man with anti-Ma2-associated paraneoplastic neurologic syndrome (PNS), and review and analyze the clinical manifestations, diagnosis, and treatment of the disease. The patient presented with a 5-month history of muscle weakness, progressive body aches, and weakness and numbness in both lower extremities. Before his hospitalization, he had experienced cognitive function decline; ptosis, inward gaze, and vertical gaze palsy in the right eye; and occasional visual hallucinations. Brain and spinal cord magnetic resonance imaging (MRI) yielded normal results. Anti-Ma2 antibodies were detected in both serum and cerebrospinal fluid. A 4-hour electroencephalogram showed irregular sharp slow waves and δ waves in the temporal region. Electromyography showed peripheral nerve demyelination. Positron-emission tomography/computed tomography (PET-CT) examination revealed hypermetabolism in the lymph nodes of the whole body. Biopsy of the lymph nodes showed non-Hodgkin lymphoma. A clinical diagnosis of lymphoma and PNS was made. The patient was treated with intravenous dexamethasone (15 mg/day) for 3 days. We have presented a rare case of a PNS involving both the central and peripheral nervous systems. The clinical features of this case indicated anti-Ma2-associated encephalitis and chronic inflammatory demyelinating polyneuropathy. PET-CT played a critical role in enabling early diagnosis and prompt treatment in this case.

  10. A case of 18p deletion syndrome after blepharoplasty

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    Xu LJ

    2017-01-01

    Full Text Available Li-juan Xu,1 Lv-xian Wu,2 Qing Yuan,3 Zhi-gang Lv,1 Xue-yan Jiang2 1Department of Opthalmology, 2Department of Pediatrics, 3Department of Clinical Laboratory, Jinhua Central Hospital, Jinhua, Zhejiang, People’s Republic of China Objective: The deletion of the short arm of chromosome 18 is thought to be one of the rare chromosomal aberrations. Here, we report a case to review this disease.Case report: The proband is a five-and-a-half-year-old girl who has had phenotypes manifested mainly by ptosis, broad face, broad neck with low posterior hairline, mental retardation, short stature, and other malformations. Chromosomal analysis for her mother showed a normal karyotype. Her father and younger brother were phenotypically normal.Result: Phenotypical features were quite similar throughout other cases and in accordance with the usual phenotype of del(18p suggested within the same cases and among the del(18p cases described. She underwent blepharoplasty, which improved her appearance.Conclusion: 18p deletion syndrome is diagnosed by gene analysis. Plastic surgeries for improving the appearance might be an option for these patients. Keywords: chromosome, deletion, blepharoplasty

  11. Indirect carotid cavernous fistula mimicking ocular myasthenia.

    Science.gov (United States)

    Leishangthem, Lakshmi; Satti, Sudhakar Reddy

    2017-10-19

    71-year-old woman with progressive left-sided, monocular diplopia and ptosis. Her symptoms mimicked ocular myasthenia, but she had an indirect carotid cavernous fistula (CCF). She was diagnosed with monocular myasthenia gravis (negative acetylcholinesterase antibody) after a positive ice test and started on Mestinon and underwent a thymectomy complicated by a brachial plexus injury. Months later, she developed left-sided proptosis and ocular bruit. She was urgently referred to neuro-interventional surgery and was diagnosed with an indirect high-flow left CCF, which was treated with Onyx liquid and platinum coil embolisation. Mestinon was discontinued. Her ophthalmic symptoms resolved. However, she was left with a residual left arm and hand hemiparesis and dysmetria secondary to a brachial plexus injury. Indirect CCF usually can present with subtle and progressive symptoms leading to delayed diagnosis or misdiagnosis. It is important for ophthalmologists to consider this differential in a patient with progressive ocular symptoms. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  12. Isolated Medial Rectus Nuclear Palsy as a Rare Presentation of Midbrain Infarction.

    Science.gov (United States)

    Al-Sofiani, Mohammed; Lee Kwen, Peterkin

    2015-10-08

    Diplopia is a common subjective complaint that can be the first manifestation of a serious pathology. Here, we report a rare case of midbrain infarction involving the lateral subnucleus of the oculomotor nuclear complex presenting as diplopia, with no other stroke manifestations. An 83-year-old right-handed white man with past medical history of diabetes mellitus, hypertension, dyslipidemia, and coronary artery disease presented to the emergency department (ED) with diplopia and unsteadiness. Two days prior to admission, the patient woke up with constant horizontal diplopia and unsteadiness, which limited his daily activities and led to a fall at home. He denied any weakness, clumsiness, nausea, vomiting, photophobia, fever, or chills. Ocular exam showed a disconjugate gaze at rest, weakness of the left medial rectus muscle, impaired convergence test, and bilateral 3-mm reactive pupils. The diplopia resolved by closing either eye. The remaining extraocular muscles and other cranial nerves were normal. There was no nystagmus, ptosis, or visual field deficit. Sensation, muscle tone, and strength were normal in all extremities. Magnetic resonance imaging (MRI) of the brain revealed a tiny focus of restricted diffusion in the left posterior lateral midbrain. A thorough history and physical examination is essential to diagnose and manage diplopia. Isolated extraocular palsy is usually thought to be caused by orbital lesions or muscular diseases. Here, we report a case of midbrain infarction manifested as isolated medial rectus palsy.

  13. Preliminary study of the effects of xylazine or detomidine with or without butorphanol for standing sedation in dairy cattle.

    Science.gov (United States)

    Lin, Hui Chu; Riddell, M Gatz

    2003-01-01

    The sedative effect induced by administering xylazine hydrochloride or detomidine hydrochloride with or without butorphanol tartrate to standing dairy cattle was compared in two groups of six adult, healthy Holstein cows. One group received xylazine (0.02 mg/kg i.v.) followed by xylazine (0.02 mg/kg) and butorphanol (0.05 mg/kg i.v.) 1 week later. Cows in Group B received detomidine (0.01 mg/kg i.v.) followed by detomidine (0.01 mg/kg i.v.) and butorphanol (0.05 mg/kg i.v.) 1 week later. Heart rate, respiratory rate, and arterial blood pressure were monitored and recorded before drugs were administered and every 10 minutes for 1 hour after drug administration. The degree of sedation was evaluated and graded. Cows in each treatment group had significant decreases in heart rate and respiratory rate after test drugs were given. Durations of sedation were 49.0 +/- 12.7 minutes (xylazine), 36.0 +/- 14.1 (xylazine with butorphanol), 47.0 +/- 8.1 minutes (detomidine), and 43.0 +/- 14.0 minutes (detomidine with butorphanol). Ptosis and salivation were observed in cows of all groups following drug administration. Slow horizontal nystagmus was observed from three cows following administration of detomidine and butorphanol. All cows remained standing while sedated. The degree of sedation seemed to be most profound in cows receiving detomidine and least profound in cows receiving xylazine.

  14. Computed tomographic findings and treatment of a bull with pituitary gland abscess.

    Science.gov (United States)

    Braun, Ueli; Malbon, Alexandra; Kochan, Manon; Riond, Barbara; Janett, Fredi; Iten, Cornelia; Dennler, Matthias

    2017-01-13

    In cattle, the prognosis of brain abscess is unfavourable and treatment is therefore not recommended. To the knowledge of the authors, there has been no report of successful treatment of a brain abscess in cattle.This report describes the clinical, computed tomographic and postmortem findings in a Holstein-Friesian bull with a hypophyseal abscess. The main clinical findings were generalised ataxia, ptyalism, prolapse of the tongue, dropped jaw, dysphagia, head tilt and unilateral ptosis. Cerebrospinal fluid evaluation revealed 2437 leukocytes/µl and severe pleocytosis. CT examination of the head showed a cavitary lesion consistent with an abscess in the hypophysis. Treatment consisted of gentamicin and flunixin meglumine for 3 days and amoxicillin for 40 days. The neurological signs resolved within 8 days of the start of treatment. The bull was slaughtered 11 months later because of infertility, and a postmortem examination was carried out. Histologically, a mild chronic non suppurative meningoencephalitis restricted to the ventral diencephalon was diagnosed. In addition, there was mild to moderate multifocal chronic lymphoplasmacytic hypophysitis with mild multifocal fibrosis. This case report stresses the significance of CT in confirming the clinical and laboratory diagnosis of central nervous system disorders in cattle and for localising brain lesions. Treatment of the brain abscess resulted, with respect to the central nervous disorder, in a successful outcome and was encouraging considering that most cases have an unfavourable prognosis.

  15. The "black evil" affecting patients with diabetes: a case of rhino orbito cerebral mucormycosis causing Garcin syndrome

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    Narayanan S

    2017-03-01

    Full Text Available Santhosh Narayanan,1 Geetha Panarkandy,1 Gomathy Subramaniam,2 Chandni Radhakrishnan,1 NK Thulaseedharan,1 Neeraj Manikath,1 Sreejith Ramaswamy,1 Suma Radhakrishnan,3 Danish Ekkalayil1 1Department of General Medicine, 2Department of Radiodiagnosis, 3Department of Otorhinolaryngology, Government Medical College, Kozhikode, Kerala, India Abstract: Mucormycosis is a life-threatening infection affecting patients with diabetes. It is an angioinvasive disease often resistant to treatment with a debilitating course and high mortality. Here, we report a case of a 45 year old woman with type 2 diabetes mellitus who presented to us with history of right-sided ptosis and facial palsy, and subsequently developed loss of vision and palatal palsy. She was in diabetic ketoacidosis. Nervous system examination revealed involvement of right second, third, fourth, sixth, seventh, ninth, and tenth cranial nerves, suggestive of Garcin syndrome. The hard palate had been eroded with formation of black eschar. Computed tomography of paranasal sinuses revealed right maxillary and ethmoid sinusitis, with spread of inflammation to infratemporal fossa and parapharynygeal neck spaces. Debridement of sinus mucosa was done, and culture of the same yielded growth of rhizopus species. Histopathological examination of the tissue showed angioinvasion and fungal hyphae suggestive of mucormycosis. She was treated with amphotericin B, posaconazole, and periodic nasal sinus debridement, but her general condition worsened after 8 weeks due to secondary sepsis and she succumbed to death. Keywords: diabetes, rhinoorbitocerebral, mucormycosis, garcin syndrome

  16. Brain-computer interface (BCI) evaluation in people with amyotrophic lateral sclerosis.

    Science.gov (United States)

    McCane, Lynn M; Sellers, Eric W; McFarland, Dennis J; Mak, Joseph N; Carmack, C Steve; Zeitlin, Debra; Wolpaw, Jonathan R; Vaughan, Theresa M

    2014-06-01

    Brain-computer interfaces (BCIs) might restore communication to people severely disabled by amyotrophic lateral sclerosis (ALS) or other disorders. We sought to: 1) define a protocol for determining whether a person with ALS can use a visual P300-based BCI; 2) determine what proportion of this population can use the BCI; and 3) identify factors affecting BCI performance. Twenty-five individuals with ALS completed an evaluation protocol using a standard 6 × 6 matrix and parameters selected by stepwise linear discrimination. With an 8-channel EEG montage, the subjects fell into two groups in BCI accuracy (chance accuracy 3%). Seventeen averaged 92 (± 3)% (range 71-100%), which is adequate for communication (G70 group). Eight averaged 12 (± 6)% (range 0-36%), inadequate for communication (L40 subject group). Performance did not correlate with disability: 11/17 (65%) of G70 subjects were severely disabled (i.e. ALSFRS-R < 5). All L40 subjects had visual impairments (e.g. nystagmus, diplopia, ptosis). P300 was larger and more anterior in G70 subjects. A 16-channel montage did not significantly improve accuracy. In conclusion, most people severely disabled by ALS could use a visual P300-based BCI for communication. In those who could not, visual impairment was the principal obstacle. For these individuals, auditory P300-based BCIs might be effective.

  17. Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.

    Science.gov (United States)

    van Trier, Dorothée C; Vos, Anna M C; Draaijer, Renske W; van der Burgt, Ineke; Draaisma, Jos M Th; Cruysberg, Johannes R M

    2016-10-01

    To determine the full spectrum of ocular manifestations in patients with Noonan syndrome (NS). Prospective cross-sectional clinical and genetic study in a tertiary referral center. Twenty-five patients with NS (mean age, 14 years; range, 8 months-25 years) clinically diagnosed by validated criteria. All patients were examined by the same team following a detailed study protocol. Genetic analyses were performed in 23 patients. Ocular abnormalities of vision and refraction, external ocular features, ocular position and motility, anterior segment, posterior segment, and intraocular pressure. Ocular features of vision and refraction were amblyopia (32%), myopia (40%), and astigmatism (52%). External ocular features were epicanthic folds (84%), hypertelorism (68%), ptosis (56%), high upper eyelid crease (64%), lower eyelid retraction (60%), abnormal upward slanting palpebral fissures (36%), downward slanting palpebral fissures (32%), and lagophthalmos (28%). Orthoptic abnormalities included strabismus (40%), abnormal stereopsis (44%), and limited ocular motility (40%). Anterior segment abnormalities included prominent corneal nerves (72%) and posterior embryotoxon (32%). Additional ocular features were found, including nonglaucomatous optic disc excavation (20%), relatively low (Noonan syndrome is a clinical diagnosis with multiple genetic bases associated with an extensive variety of congenital ocular abnormalities. Ocular features of NS are characterized by 1 or more developmental anomalies of the eyelids (involving the position, opening, and closure) associated with various other ocular abnormalities in childhood, including amblyopia, myopia, astigmatism, strabismus, limited ocular motility, prominent corneal nerves, and posterior embryotoxon. Copyright © 2016 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

  18. IgG4-Related Disease: A Multispecialty Condition

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    Iuri Usêda Santana

    2014-01-01

    Full Text Available IgG4-related disease (IgG4-RD is a recently recognized group of conditions, characterized by tumor-like swelling of involved organs, lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, variable degrees of fibrosis, and elevated serum IgG4 concentrations. Currently IgG4-RD is recognized as a systemic condition that can affect several organs and tissues. Herein we report the case of a 34-year-old male patient who was admitted to our hospital with diffuse abdominal pain, weight loss, and painful stiffness in his neck. He had a history of tumoral mass of the left maxillary region, right palpebral ptosis with protrusion of the eyeball, and chronic dry cough for about 6 years. Laboratory tests revealed polyclonal hypergammaglobulinemia and increased serum IgG4 levels. Immunohistochemical staining of the maxillary biopsy was compatible with IgG4-RD. He had an excellent response to corticosteroid therapy. This case highlights that IgG4-RD should be included in the differential diagnosis with multisystem diseases.

  19. Antidepressant-Like Effect of Isorhynchophylline in Mice.

    Science.gov (United States)

    Xian, Yan-Fang; Fan, Ding; Ip, Siu-Po; Mao, Qing-Qiu; Lin, Zhi-Xiu

    2017-02-01

    Isorhynchophylline (IRN), an oxindole alkaloid, has been identified as the main active ingredient responsible for the biological activities of Uncaria rhynchophylla (Miq) Miq ex Havil. (Rubiaceae). Previous studies in our laboratory have revealed that IRN possesses potent neuroprotective effects in different models of Alzheimer's disease. However, the antidepressant-like effects of IRN are remained unclear. The present study aims to evaluate the antidepressant-like effects of IRN. The antidepressant-like effects of IRN was determined by using animal models of depression including forced swimming and tail suspension tests. The acting mechanism was explored by determining the effect of IRN on the levels of monoamine neurotransmitters and the activities of monoamine oxidases. Intragastric administration of IRN at 10, 20 and 40 mg/kg for 7 days caused a significant reduction of immobility time in both forced swimming and tail suspension tests, while IRN did not stimulate locomotor activity in the open-field test. In addition, IRN treatment antagonized reserpine-induced ptosis and significantly enhanced the levels of monoamine neurotransmitters including norepinephrine (NE) and 5-hydroxytryptamine (5-HT), and the activity of monoamine oxidase A (MAO-A) in the hippocampus and frontal cortex of mice. These results suggest that the antidepressant-like effects of IRN are mediated, at least in part, by the inhibition of monoamine oxidases.

  20. Aging Blepharoplasty

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    Inchang Cho

    2013-09-01

    Full Text Available In performing upper blepharoplasty in the elderly, looking younger and keeping the eyelidsharmonious with the rest of the face have to be achieved at the same time. The most importantgoal in upper blepharoplasty for aging is correcting the drooping upper eyelid skin, and inthis process, the surgeon may or may not create a double eyelid fold. The pros and cons haveto be fully discussed with the patient, but the author personally prefers creating a doublefold unless the patient refuses, because it is efficient in correcting and preventing furtherdrooping of the skin. In most patients, the brow is elevated to compensate for the droopingeyelid, and when the drooping is corrected, brow ptosis may ensue. The surgeon has to preparefor these consequences before performing the procedure, and estimate the exact amountof skin to be excised. In the elderly, the skin and the orbicularis oculi muscle is thin, with adecreased amount of subcutaneous fat and retro-orbicularis oculi fat, and in most cases,excision of the skin alone is enough to correct the deformity. Removing large portions ofsoft tissue may also prolong the recovery period. Unlike younger patients, the lower skinflap should not be stretched too much in the elderly, as it may create an aggressive lookingappearance. A few wrinkles in the lower flap should remain untouched to create a naturallook. In this article, the author’s own methods of performing an aging blepharoplasty aredescribed specifically, with a step-by-step guide and surgical tips.

  1. The distinguishing motor features of cataplexy: a study from video-recorded attacks.

    Science.gov (United States)

    Pizza, Fabio; Antelmi, Elena; Vandi, Stefano; Meletti, Stefano; Erro, Roberto; Baumann, Christian R; Bhatia, Kailash P; Dauvilliers, Yves; Edwards, Mark J; Iranzo, Alex; Overeem, Sebastiaan; Tinazzi, Michele; Liguori, Rocco; Plazzi, Giuseppe

    2018-05-01

    To describe the motor pattern of cataplexy and to determine its phenomenological differences from pseudocataplexy in the differential diagnosis of episodic falls. We selected 30 video-recorded cataplexy and 21 pseudocataplexy attacks in 17 and 10 patients evaluated for suspected narcolepsy and with final diagnosis of narcolepsy type 1 and conversion disorder, respectively, together with self-reported attacks features, and asked expert neurologists to blindly evaluate the motor features of the attacks. Video documented and self-reported attack features of cataplexy and pseudocataplexy were contrasted. Video-recorded cataplexy can be positively differentiated from pseudocataplexy by the occurrence of facial hypotonia (ptosis, mouth opening, tongue protrusion) intermingled by jerks and grimaces abruptly interrupting laughter behavior (i.e. smile, facial expression) and postural control (head drops, trunk fall) under clear emotional trigger. Facial involvement is present in both partial and generalized cataplexy. Conversely, generalized pseudocataplexy is associated with persistence of deep tendon reflexes during the attack. Self-reported features confirmed the important role of positive emotions (laughter, telling a joke) in triggering the attacks, as well as the more frequent occurrence of partial body involvement in cataplexy compared with pseudocataplexy. Cataplexy is characterized by abrupt facial involvement during laughter behavior. Video recording of suspected cataplexy attacks allows the identification of positive clinical signs useful for diagnosis and, possibly in the future, for severity assessment.

  2. Finesse in forehead and brow rejuvenation: modern concepts, including endoscopic methods.

    Science.gov (United States)

    Drolet, Brian C; Phillips, Benjamin Z; Hoy, Erik A; Chang, Johnny; Sullivan, Patrick K

    2014-12-01

    The brow and forehead are essential elements of the facial aesthetic architecture. Although frequently overlooked in youth, signs of facial aging are often most noticeable in the upper third of the face. Ptosis and loss of contour in the brows, along with temporal volume loss, sagging of periorbital tissue, and rhytides in the forehead, are common presenting complaints for aesthetic surgery. Although use of nonsurgical procedures (e.g., neuromodulators) has become very common practice, knowledge of surgical anatomy and interventions for brow and forehead rejuvenation are critical for a plastic surgeon. The earliest descriptions of brow-lift procedures are nearly a century old. Techniques have evolved significantly, to the point that patients may now return to work within 1 week of surgery, with minimal or no stigmata from an operation. The literature and a series of cases from the senior surgeon (P.K.S.) were reviewed. A minimally invasive approach with an endoscope for dissection and repositioning of the brow was used in all patients. The authors have found that permanent suture fixation with cortical tunnels can produce an excellent, long-lasting aesthetic result for not only the forehead and brow but also the lateral periorbital and temporal regions. Although each operation is tailored to the patient's individual anatomy, the authors' approach to the endoscopic procedure is described in this article, along with a review of anatomical and surgical considerations. Finally, several patients provide demonstrative results from the senior surgeon's series of 546 patients.

  3. Plant natriuretic peptides: Systemic regulators of plant homeostasis and defense that can affect cardiomyoblasts

    KAUST Repository

    Gehring, Christoph A; Irving, Helen R.

    2010-01-01

    Immunologic evidence has suggested the presence of biologically active natriuretic peptide (NPs) hormones in plants because antiatrial NP antibodies affinity purify biologically active plant NPs (PNP). In the model plant, an Arabidopsis thaliana PNP (AtPNP-A) has been identified and characterized. AtPNP-A belongs to a novel class of molecules that share some similarity with the cell wall loosening expansins but do not contain the carbohydrate-binding wall anchor thus suggesting that PNPs and atrial natriuretic peptides are heterologs. AtPNP-A acts systemically, and this is consistent with its localization in the apoplastic extracellular space and the conductive tissue. Furthermore, AtPNP-A signals via the second messenger cyclic guanosine 3′,5′-monophosphate and modulates ion and water transport and homeostasis. It also plays a critical role in host defense against pathogens. AtPNP-A can be classified as novel paracrine plant hormone because it is secreted into the apoplastic space in response to stress and can enhance its own expression. Interestingly, purified recombinant PNP induces apo-ptosis in a dose-dependent manner and was most effective on cardiac myoblast cell lines. Because PNP is mimicking the effect of ANP in some instances, PNP may prove to provide useful leads for development of novel therapeutic NPs. Copyright © 2013 by The American Federation for Medical Research.

  4. Clinical insights on Tolosa Hunt syndrome: A multidisciplinary approach on neurological-related symptomatology in maxillofacial region

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    Zafar Ali Khan

    2018-02-01

    Full Text Available Background Tolosa–Hunt syndrome (THS related neurological symptoms are described in literature as “unilateral”, “recurrent”, “episodic”, “intense”, “severe”, “lancinating” or “stabbing” pain on the upper face and forehead and may be misdiagnosed due to the similarity of few symptoms and a significant number of common characteristics between both conditions. Aims The aim of this brief report is to indicate some important clinical insights related to Tolosa Hunt syndrome, and to give a frank account on the multidisciplinary approach on neurological-related symptomatology in maxillofacial region. Methods We analysed a selection of patients with such clinical picture. To better describe the proper management of clinical cases, we report a 50-year-old female reporting an history of two years of recurrent, severe stabbing pain around the right eye, prominence of her cheek and forehead. Her general dentist first mistakenly diagnosed toothache and, thus, it was subsequently misdiagnosed the trigeminal neuropathy (TN. Results Reported exemplificative case presented a mild ptosis, diplopia of the right eye, corneal reflex loss, paresthesia and hyperesthesia of upper part of left side of face. Magnetic resonance imaging (MRI findings were suggestive of THS. Complete resolution of symptoms was achieved with oral Prednisolone and constant monitoring of symptoms. Conclusion THS may be added to the long list of differential diagnosis of TN and general dentist and oral surgeons should be informed about such rare causes of facial pain through continued medical education programs.

  5. Rare association of thymoma, myasthenia gravis and sarcoidosis : a case report

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    Kurukumbi Mohankumar

    2008-07-01

    Full Text Available Abstract Introduction The association of thymoma with myasthenia gravis (MG is well known. Thymoma with sarcoidosis however, is very rare. We presented an interesting case with coexisting thymoma, MG and sarcoidosis. Case presentation A 59-year-old female patient with a history of sarcoidosis was admitted to the hospital with a one-day history of sudden onset of right-sided partial ptosis and diplopia. Neurosarcoidosis with cranial nerve involvement was considered, but was ruled out by the clinical findings, and MG was confirmed by the positive tensilon test, electrophysiological findings and positive acetylcholine receptor binding antibodies. On further evaluation, a CT chest scan showed a left anterior mediastinal mass and bilateral lymphadenopathy. Post surgical diagnosis confirmed the thymoma and sarcoidosis in the lymph nodes. Conclusion When two or more diseases of undetermined origin are found together, several interesting questions are raised. It is important to first confirm the diagnoses individually. Immunologic mechanisms triggering the occurrence of these diagnoses together, are difficult to address. Although the coexistence of thymoma, MG and sarcoidosis may be coincidental, it is noteworthy to report this case because of the multiple interesting features observed as well as the rarity of occurrence.

  6. Myasthenia gravis in Ceará, Brazil: clinical and epidemiological aspects

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    Aline de Almeida Xavier Aguiar

    2010-12-01

    Full Text Available A retrospective chart review was performed on patients diagnosed as having myasthenia gravis in Ceará State, Brazil and who were followed from October 1981 to June 2009. Clinical and epidemiologic aspects were evaluated. In this work, 122 patients were studied, of whom 85 (69.7% were females and 37 (30.3% were males. The disease duration ranged from five months to 50 years (8.9±8.1 years. Age at the first symptoms varied from 0 to 74 years (31.9±14.4 years. The first main symptoms and signs were ptosis, diplopia and limb weakness. Generalized myasthenia was the most common clinical presentation, but 5.1% (n=6 persisted as ocular myasthenia. Thymectomy was performed in 42.6% (n=52 of myasthenic patients. A thymoma was present in 10 patients. Serum acetylcholine receptor (AChR antibodies were present in 80% (n=20 of specimens tested. The data presented are similar to those of studies performed in other countries.

  7. Treatment of hemifacial spasm with botulinum toxin type a: effective, long lasting and well tolerated

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    Jean Pierre Mette Batisti

    Full Text Available ABSTRACT Hemifacial spasm (HFS is a common movement disorder characterized by involuntary tonic or clonic contractions of the muscles innervated by the facial nerve. Objective To evaluate the long-term effect of botulinum toxin type A (BTX-A in the treatment of HFS. Methods A retrospective analysis of patients treated at the Movement Disorders Outpatient Clinic in the Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, from 2009 to 2013 was carried out. A total of 550 BTX-A injections were administered to 100 HFS patients. Results Mean duration of improvement following each injection session was 3.1 months, mean latency to detection of improvement was 7.1 days and mean success rate was 94.7%. Patients were evaluated at an interval of 5.8 months after each application. Adverse effects, which were mostly minor, were observed in 37% of the patients at least once during follow-up. The most frequent was ptosis (35.1%. Conclusion Treatment of HFS with BTX-A was effective, sustainable and safe and had minimal, well-tolerated side effects.

  8. Understanding the functional anatomy of the frontalis and glabellar complex for optimal aesthetic botulinum toxin type A therapy.

    Science.gov (United States)

    Lorenc, Z Paul; Smith, Stacy; Nestor, Mark; Nelson, Diane; Moradi, Amir

    2013-10-01

    Botulinum neurotoxin type A (BoNTA) is approved for the treatment of glabellar lines and also is commonly injected in an off-label fashion in the frontalis (i.e., frontalis epicranius) muscle to improve the appearance of horizontal forehead lines. This study aimed to review and discuss both the anatomy and physiology of the frontalis muscle and its relationship with antagonist muscles in the upper face and to provide a guide for the use of BoNTA to treat forehead rhytides while minimizing the occurrence of complications such as brow ptosis. A PubMed search was conducted to identify practitioner opinion and clinical publications on the efficacy and safety of BoNTA for aesthetic treatment of the upper face. The use of BoNTA produces durable improvement in the appearance of moderate to severe horizontal forehead lines. Dose and injection technique must be adjusted and individualized based on the variable anatomy and function/mass of muscles in the forehead and upper face as well as on patient goals. Optimal aesthetic outcomes can be achieved by skillfully balancing the opposing effects of the frontalis muscle and its intricate interactions with the procerus, corrugator supercilii, depressor supercilii, and orbicularis oculi muscles. The use of BoNTA to improve the aesthetic appearance of horizontal forehead lines is optimized when clinicians take into account variations in frontalis muscle function and position, anatomy of the brow, and proper injection technique when they devise individualized treatment regimens.

  9. Dental and Maxillofacial Signs in Aarskog Syndrome: A Review of 3 Siblings and the Literature.

    Science.gov (United States)

    Depeyre, Arnaud; Schlund, Matthias; Gryseleyn, Rémi; Ferri, Joel

    2018-03-29

    Dagfinn Aarksog first described faciodigitogenital syndrome in 1970. Its inheritance is X linked and autosomally recessive. Currently, the diagnosis of Aarskog-Scott syndrome (ASS) is based on clinical dysmorphologic findings and can be supported by genetic examination. This report describes 3 brothers already diagnosed with ASS who were referred for examination of oral and maxillofacial malformations associated with ASS. They presented classic features of ASS, such as digital and genital (shawl scrotum) anomalies. More specifically, in terms of orbitopalpebral malformations, they showed marked ptosis with hypertelorism and antimongoloid palpebral fissure that gave them the characteristic facies. Concerning their oral and maxillofacial malformations, they had dental and skeletal major discrepancies and some dental agenesia. ASS is a rare X-linked syndrome composed of numerous morphologic facial, digital, and genital anomalies. The diagnosis is established genetically with the FGD1 mutation but there is no phenotypic and genotypic correlation with FGD1 mutations. Concerning maxillofacial malformations, maxillary and mandibular hypoplasia with jaw discrepancies can be found, as can teeth anomalies. It seems that these anomalies are widely underestimated. Copyright © 2018 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

  10. A standardized method to create peripheral nerve injury in dogs using an automatic non-serrated forceps

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    Xuhui Wang; Shiting Li; Liang Wan; Xinyuan Li; Youqiang Meng; Ningxi Zhu; Min Yang; Baohui Feng; Wenchuan Zhang; Shugan Zhu

    2012-01-01

    This study describes a method that not only generates an automatic and standardized crush injury in the skull base, but also provides investigators with the option to choose from a range of varying pressure levels. We designed an automatic, non-serrated forceps that exerts a varying force of 0 to 100 g and lasts for a defined period of 0 to 60 seconds. This device was then used to generate a crush injury to the right oculomotor nerve of dogs with a force of 10 g for 15 seconds, resulting in a deficit in the pupil-light reflex and ptosis. Further testing of our model with Toluidine-blue staining demonstrated that, at 2 weeks post-surgery disordered oculomotor nerve fibers, axonal loss, and a thinner than normal myelin sheath were visible. Electrophysiological examination showed occasional spontaneous potentials. Together, these data verified that the model for oculomotor nerve injury was successful, and that the forceps we designed can be used to establish standard mechanical injury models of peripheral nerves.

  11. Sellar Chordoma Presenting as Pseudo-macroprolactinoma with Unilateral Third Cranial Nerve Palsy

    Institute of Scientific and Technical Information of China (English)

    Hai-feng Wang; Hong-xi Ma; Cheng-yuan Ma; Yi-nan Luo; Peng-fei Ge

    2012-01-01

    We described a 61-year-old female with a sellar chordoma,which presented as pseudo-macroprolactinoma with unilateral third cranial nerve palsy.Physical examination revealed that her right upper lid could not be raised by itself,right eyeball movement limited to the abduction direction,right pupil dilated to 4.5 mm with negative reaction to light,and hemianopsia in bitemporal sides.CT scanning showed a hyperdense lesion at sellar region without bone destruction.Magnetic resonance imaging (MRI) revealed the tumor was 2.3 cm×1.8 cm×2.6 cm,with iso-intensity on T1WI,hyper-intensity on T2WI and heterogeneous enhancement on contrast imaging.Endocrine examination showed her serum prolactin level increased to 1,031.49 mlU/ml.The tumor was sub-totally resected via pterional craniotomy under microscope and was histologically proven to be a chordoma.Postoperatively,she recovered uneventfully but ptosis and hemianopsia remained at the 6th month.

  12. Efficacy of Botulinum Toxin Injections in the Treatment of Various Types of Facial Region Disorders

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    Arzu Çoban

    2012-12-01

    Full Text Available OBJECTIVE: Local injection of botulinum toxin is a highly effective treatment option for a wide range of movement disorders and there are reliable sources of information on its indications, effects and safety in clinical practice. In this study, we report our experience with botulinum toxin in the treatment of facial region disorders. METHODS: Patients who had been followed in the Botulinum Toxin Outpatient Clinic of the Neurology Department were retrospectively evaluated. Two preparations of botulinum toxin type A (BT-A were used. The efficacy of BT-A injections was rated according to the improvement in symptoms as follows: marked - 75-100% improvement, good - 50-74%, moderate - 25-49%, and insufficient - less than 25% symptom relief. RESULTS: One hundred eighty-two patients (73 male, 109 female with various facial region disorders were included. The efficacy rates for patients who had very good and good improvement were high in the treatment of blepharospasm, hemifacial spasm, facial synkinesis, and Meige syndrome and moderate for oromandibular dystonia and hypersalivation. Ptosis was the most common side effect. CONCLUSION: According to our results, botulinum toxin was very effective treatment for blepharospasm, Meige syndrome, hemifacial spasm and facial synkinesis, whereas it demonstrated good efficacy in oromandibular dystonia and hypersalivation

  13. Intracranial extension of adenoid cystic carcinoma of the palate: a case report

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    Oh, Yoon Kyeong; Kee, Keun Hong [College of Medicine, Chosun Univ., Kwangju (Korea, Republic of)

    1999-12-01

    Intracranial involvement by adenoid cystic carcinoma (ACC) is very rare and there is no report of intracranial extension from the palate ACC in Korea. Intracranial involvement can occur in one of three ways: direct extension, perineural spread, and hematogenous spread. A case report of a 35-year-old woman with intracranial ACC is presented. Initially she had ACC of the right palate and was treated by surgery and postoperative radiation therapy. Three years and 10 months later, the paresthesia in the distribution of ophthalmic and maxillary branch of right trigeminal nerve developed without evidence of recurrence in CT scan. Ptosis and total ophthalmoplegia developed sequentially and the second operation was performed. It was suggested that the tumor was spread perineurally along the trigeminal nerve into the Gasserian ganglion and then cavernous sinus and orbit. Seven years and 6 months after the first operation, direct intracranial extension into the right temporal lobe developed via sphenoid bone, sphenoid sinus and temporal bone and the third operation was done. And then Jung metastasis was diagnosed. She is alive for 9 years 5 months after first operation.

  14. Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy.

    Science.gov (United States)

    Dafsari, Hormos Salimi; Byrne, Susan; Lin, Jean-Pierre; Pitt, Matthew; Jongbloed, Jan Dh; Flinter, Frances; Jungbluth, Heinz

    2015-06-01

    Goldberg-Shprintzen megacolon syndrome (GOSHS) (OMIM 609460) is characterized by a combination of learning difficulties, characteristic dysmorphic features and Hirschsprung's disease. Variable clinical features include iris coloboma, congenital heart defects and central nervous system abnormalities, in particular polymicrogyria. GOSHS has been attributed to recessive mutations in KIAA1279, encoding kinesin family member (KIF)-binding protein (KBP) with a crucial role in neuronal microtubule dynamics. Here we report on a 7-year-old girl with GOSHS as a result of a homozygous deletion of exons 5 and 6 of the KIAA1279 gene. She had been referred with the suspicion of an underlying neuromuscular disorder before the genetic diagnosis was established, prompted by the findings of motor developmental delay, hypotonia, ptosis and absent reflexes. Neurophysiological studies revealed unequivocal evidence of a peripheral axonal sensory motor neuropathy. We hypothesize that an axonal sensory motor neuropathy may be part of the phenotypical spectrum of KIAA1279-related GOSHS, probably reflecting the effects of reduced KBP protein expression on peripheral neuronal function. © 2015 Wiley Periodicals, Inc.

  15. Eye malformations in Cameroonian children: a clinical survey

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    Eballé AO

    2012-10-01

    Full Text Available André Omgbwa Eballé,1,2 Augustin Ellong,3 Godefroy Koki,3 Ngoune Chantal Nanfack,3 Viola Andin Dohvoma,3 Côme Ebana Mvogo2,31Yaoundé Gynaecology, Obstetrics and Pediatrics Hospital, Yaoundé, Cameroon; 2Faculty of Medicine and Pharmaceutical Sciences, University of Douala, Cameroon; 3Faculty of Medicine and Biomedical Sciences, University of Yaoundé I, CameroonSummary: The aim of this work was to describe the clinical aspects of eye malformations observed at the ophthalmology unit of the Yaoundé Gynaecology, Obstetrics and Pediatrics Hospital.Patients and methods: We carried out a retrospective study of all malformations of the eye and its adnexae observed among children aged 0–5 years who were seen at the ophthalmology unit from January 2003 to December 2009.Results: Out of the 2254 children who were examined, 150 (6.65% presented eye malformations. The mean age was 14.40 ± 4 months. Eye malformations were diagnosed in 71.66% of cases during the first year of life. The most frequent malformations were congenital lacrimal duct obstruction (66.66%, congenital cataract (10.9%, congenital glaucoma (10.9%, microphthalmos (5.03%, and congenital ptosis (3.77%.Conclusion: Eye malformations among children can lead to visual impairment and are a cause for discomfort to children and parents. Therefore, systematic postnatal screening is recommended to enable early management.Keywords: malformations, ophthalmology, child, Cameroon

  16. Liposuction breast reduction: a prospective trial in African American women.

    Science.gov (United States)

    Moskovitz, Martin J; Baxt, Sherwood A; Jain, Aridaman K; Hausman, Robert E

    2007-02-01

    Recently published case reports and outcome studies support the use of liposuction alone as an effective technique for ameliorating symptoms of breast hypertrophy. This study is the first prospective trial to examine the effectiveness of liposuction breast reduction as a primary modality of breast reduction. In addition, this study examines the role that liposuction breast reduction can play in the treatment of African American women, given the known scarring difficulties that darker skinned patients can encounter with traditional breast reduction surgery. Twenty African American women were recruited through newspaper and Internet advertisements. Patients aged 20 to 60 years were serially accepted to the study. Patients with a chief complaint of breast ptosis were excluded. No other exclusion criteria were used. Previously validated questionnaire instruments were used preoperatively and postoperatively to measure breast-related symptoms, general patient health perception, bodily pain, and self-esteem. Comorbid conditions, demographics, financial status, prior treatments, and smoking history were also documented. Seventeen patients completed the preoperative and postoperative questionnaires. An average of 1075 cc of tissue was removed per breast during liposuction breast reduction surgery. Postoperative assessment showed a significant decrease in breast-related symptoms, a significant decrease in patient pain, and a significant improvement in overall patient health perception. Liposuction breast reduction is a useful breast reduction modality in the properly selected patient. African American women, who may traditionally forego breast reduction surgery because of scarring, are excellent candidates for this type of reduction procedure.

  17. Dopamine beta-hydroxylase deficiency

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    Senard Jean-Michel

    2006-03-01

    Full Text Available Abstract Dopamine beta-hydroxylase (DβH deficiency is a very rare form of primary autonomic failure characterized by a complete absence of noradrenaline and adrenaline in plasma together with increased dopamine plasma levels. The prevalence of DβH deficiency is unknown. Only a limited number of cases with this disease have been reported. DβH deficiency is mainly characterized by cardiovascular disorders and severe orthostatic hypotension. First symptoms often start during a complicated perinatal period with hypotension, muscle hypotonia, hypothermia and hypoglycemia. Children with DβH deficiency exhibit reduced ability to exercise because of blood pressure inadaptation with exertion and syncope. Symptoms usually worsen progressively during late adolescence and early adulthood with severe orthostatic hypotension, eyelid ptosis, nasal stuffiness and sexual disorders. Limitation in standing tolerance, limited ability to exercise and traumatic morbidity related to falls and syncope may represent later evolution. The syndrome is caused by heterogeneous molecular alterations of the DBH gene and is inherited in an autosomal recessive manner. Restoration of plasma noradrenaline to the normal range can be achieved by therapy with the synthetic precursor of noradrenaline, L-threo-dihydroxyphenylserine (DOPS. Oral administration of 100 to 500 mg DOPS, twice or three times daily, increases blood pressure and reverses the orthostatic intolerance.

  18. Myxedema Coma due to Hashimoto Thyroiditis: A Rare but Real Presentation of Failure to Thrive in Infancy.

    Science.gov (United States)

    Heksch, Ryan A; Henry, Rohan K

    2018-05-04

    Hashimoto thyroiditis (HT) is uncommon in infancy, and myxedema coma (MC) is even less common. While prior reports have documented these entities separately, to our knowledge, MC in combination with HT has not been reported before in this age group. A 10-month-old female presented with ptosis, lethargy, dysphagia, and failure to thrive (FTT). She developed hypotension, bradycardia, hypothermia, and apnea requiring intubation. Initial thyroid-stimulating hormone was 422 μIU/mL, and free thyroxine was < 0.5 ng/dL, despite the presence of a normal thyroid newborn screen (NBS). Of note, sepsis workup was unremarkable. With the diagnosis of MC, treatment with intravenous levothyroxine was initiated, although after hydrocortisone administration to avert the possibility of an adrenal crisis, despite a random cortisol of 16.4 μg/dL. Based on positive thyroid antibodies suggesting HT, autoimmune workup later revealed positive acetylcholinesterase antibodies consistent with a diagnosis of ocular myasthenia gravis. MC may be a cause of altered mental status in infancy and may simultaneously be associated with FTT on presentation. With the presence of a normal thyroid NBS, autoimmunity should be entertained as the etiology of profound hypothyroidism, as positive thyroid antibodies may prompt an exploration for coexisting diseases which may explain other presenting features. © 2018 S. Karger AG, Basel.

  19. Volumization of the Brow at the Time of Blepharoplasty: Treating the Eyebrow Fat Pad as an Independent Unit.

    Science.gov (United States)

    Vrcek, Ivan; Chou, Eva; Somogyi, Marie; Shore, John W

    Loss of volume in the sub-brow fat pad with associated descent of the eyebrow is a common anatomical finding resulting in both functional and aesthetic consequences. A variety of techniques have been described to address brow position at the time of blepharoplasty. To our knowledge, none of these techniques treat the sub-brow fat pad as an isolated unit. Doing so enables the surgeon to stabilize and volumize the brow without resultant tension on the blepharoplasty wound. The authors describe a technique for addressing volume loss in the eyebrow with associated brow descent that treats the sub-brow fat pad as an isolated unit. A retrospective review of all patients undergoing brow ptosis repair by a single surgeon (J.W.S.) over an 11-month period was performed. Eighteen patients and 33 brows underwent the technique described. Patients were followed for an average of 11 weeks (range: 4 weeks to 20 weeks). All patients preoperatively displayed both visually significant dermatochalasis and brow descent below the orbital rim. Evaluation of pre- and postoperative photos demonstrates successful volumization of the brow with skin redraping without focal dimpling or undue tension on the eyelid wound. Performing a dissection that allows the sub-brow fat pad to be elevated in isolation from the overlying orbicularis and underlying periosteum allows for volumization and of the brow without compromising closure. This technique is a safe and effective means of volumizing the brow and treating secondary brow descent.

  20. Coinfección de mucormicosis rinocerebral y aspergilosis sinusal

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    William Torres-Damas

    Full Text Available La mucormicosis y la aspergilosis son las causas más frecuentes de infecciones micóticas causadas por hongos filamentosos, la coinfección en un mismo huésped es poco frecuente. Se presenta el caso de un paciente varón de 78 años con debut de diabetes mellitus tipo 2 y cetoacidosis, que presenta tumefacción de hemicara derecha, parálisis facial derecha, ptosis palpebral y úlcera necrótica en paladar derecho. La tomografía computarizada de macizo facial evidenció un absceso del seno maxilar derecho, de cuya secreción se cultivó Aspergillus fumigatus. El resultado de anatomía patológica de biopsia de paladar, seno maxilar y hueso etmoidal fue compatible con mucormicosis. El paciente recibió tratamiento con voriconazol, anfotericina B desoxicolato y debridamiento quirúrgico del seno maxilar. Sin embargo, pese al manejo, falleció. La coinfección rinocerebral por mucormicosis y aspergilosis debería ser sospechada en pacientes inmunosuprimidos con el fin de establecer un manejo temprano que permita mejorar el pronóstico de la enfermedad

  1. Antibodies to AChR, MuSK and VGKC in a patient with myasthenia gravis and Morvan's syndrome.

    Science.gov (United States)

    Díaz-Manera, Jordi; Rojas-García, Ricard; Gallardo, Eduard; Juárez, Cándido; Martínez-Domeño, Alejandro; Martínez-Ramírez, Sergi; Dalmau, Josep; Blesa, Rafael; Illa, Isabel

    2007-07-01

    A 46-year-old woman presented to a local hospital with acute respiratory failure and a 2-year progressive history of fatigue, personality changes, increased sweating, dysphagia with substantial weight loss, dysarthria, and intermittent ptosis and diplopia. Neurological examination showed facial weakness, lingual atrophy and bulbar palsy, which necessitated the use of a feeding tube and ventilatory support. Mild limb weakness with severe muscle atrophy and diffuse muscle twitches were observed. The patient had also developed visual hallucinations and persecutory delusions. Her personal and family medical histories were unremarkable. Sensory and motor nerve conduction studies, repetitive nerve stimulation, electromyogram, blood-cell counts, general chemistry and metabolic function tests, a CT scan, an [(18)F]fluorodeoxyglucose-PET scan, and tests for serum antibodies to acetylcholine receptors, muscle-specific tyrosine kinase, voltage-gated potassium channels, P/Q-type voltage-gated calcium channels, and paraneoplastic antigens, were carried out. Myasthenia gravis associated with antibodies to acetylcholine receptor and muscle-specific tyrosine kinase, and Morvan's syndrome associated with antibodies to voltage-gated potassium channels in the absence of thymoma. Combined treatment with prednisone, intravenous immunoglobulin, ciclosporin, and rituximab.

  2. Ocular findings in Brazilian identical twins with Cohen syndrome: case report Achados oftalmológicos em gêmeos idênticos brasileiros com síndrome de Cohen: relato de caso

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    Priscila Hae Hyun Rim

    2009-12-01

    Full Text Available A case of identical male twins with Cohen syndrome who present multiple ophthalmic findings is reported. The patients were identical 16 year-old twin boys who showed down slanting eyelids, mild ptosis, high-grade myopia, small cortical lens opacities, posterior subcapsular cataracts, myotic and corectopic pupils with poor dilation due to focal iris atrophy and retinochoroidal dystrophy. Ophthalmologists must be aware of the ocular and systemic findings of Cohen syndrome in the evaluation of young patients with mental retardation and visual impairment.Relata-se caso de gêmeos idênticos com síndrome de Cohen que apresentam múltiplos achados oftalmológicos. Os pacientes eram gêmeos idênticos, do sexo masculino, que apresentavam pálpebras em forma de onda, ptose moderada, alta miopia, opacidades cristalinianas corticais discretas, catarata subcapsular posterior, pupilas mióticas e corectópicas com pobre dilatação devido à atrofia focal de íris, além de distrofia retinocoroidiana. Os oftalmologistas devem estar atentos quanto aos achados oftalmológicos e sistêmicos da síndrome de Cohen na avaliação de pacientes jovens com retardo mental e baixa visão.

  3. Suspensão ao músculo frontal com politetrafluoretileno para o tratamento da blefaroptose Frontalis suspension with polytetrafluorethylene for the treatment of blepharoptosis

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    Juliana Silvério

    2009-02-01

    20 patients (86.95%, blepharophimosis in 2 (8.69% and traumatic in 1 (4.35%. At the first week of postoperatory 6 (26.08% patients related palpebral asymmetry, 4 (17.39% noticed local edema, 3 (13.04% presented granulomas and 1 (4.35% presented facial cellulitis on the ipsilateral frontal region. After 3 months of follow-up 3 (13.04% patients related palpebral asymmetry and 1 (4.35% persisted the granuloma. CONCLUSION: Polytetrafluoroethylene - Model CV3, 6.0 (Gore-tex®, W.L. Gore & Associates Inc, Flagstaff, AZ, EUA is an adequate material with good functional results (86.9%, relatively few complications (4.35% and insatisfaction (13.4% that could be an alternative for fascia lata in the surgery of frontalis suspension for the treatment of blepharoptosis.

  4. Mamoplastia de reducción con cicatrices pequeñas para grandes hipertrofias mamarias o gigantomastias Reduction mammoplasty with short scars in big mammary hypertrophy or gigantomasty

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    M. Yépez Intriago

    2013-03-01

    Full Text Available En la última década, algunos cirujanos plásticos hemos procurado crear técnicas de mamoplastia de reducción con cicatrices menores tratando de no alterar la orfología y la fisiología de la mama. Algunas de ellas dejan resultados poco agradables y ptosis inmediatas en pacientes con grandes hipertrofias mamarias o gigantomastias que necesitan de cicatriz en T invertida para eliminar el exceso de tejido presente en estos casos, con una cicatriz en surco inframamario que muchas veces sobrepasa lateralmente la línea axilar anterior y llega, medialmente, hasta la región esternal. Con el objetivo de obtener cicatrices en el surco inframamario que no sean mayores de 10 cm. de longitud, presentamos una nueva técnica de mamoplastia de reducción realizada en 52 pacientes, con edades comprendidas entre los 16 y los 70 años, que presentaban grandes hipertrofias mamarias o gigantomastias. Esta técnica, con la cual hemos logrado extirpar hasta 1.500 gr. de tejido mamario, tiene una marcación que permite desde el inicio resecar el exceso de tejido del polo inferior de la mama con una cicatriz no mayor de 10 cm. de longitud en el surco inframamario, debido a que las prolongaciones medial y lateral de la mama se tratan con liposucción superficial. Un colgajo glánduloadiposo de pedículo superior ayuda a elevar la mama, a llenar el polo superior de la misma y a aumentar su proyección.In the last decade, Plastic Surgery has created reduction mammoplasty techniques with less scarring trying not to modify the normal morphology and physiology of the breast. Some of them leave unpleasant results and immediate ptosis in patients with great hypertrophy or gigantomasty; great need of inverted T scar for removal of excess tissue present in these cases produce a scar in the inframammary crease that often exceeds the antherior axillary line side and reach the medial sternal region. In order to have minor scars in the inframammary crease, not greater than 10

  5. Mastopexia con prótesis: técnica triplanar con colgajo en cola de pez para mamas con pobre calidad de cobertura

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    M. Berrocal-Revueltas

    2013-12-01

    Full Text Available La mastopexia con implantes de silicona, es uno de los procedimientos más frecuentes en la práctica diaria en Cirugía Plástica. Sin embargo, la pobre calidad de la cobertura de las mamas, relacionada con piel estriada, escaso tejido subcutáneo y pérdida del parénquima mamario secundarios a la lactancia prolongada y a la pérdida masiva de peso, son causa del incremento progresivo de resultados insatisfactorios a medio y largo plazo que han sido evaluados, analizados y discutidos por los especialistas. Los resultados insatisfactorios más frecuentes en mastopexia con implantes en posición retromuscular son: doble contorno mamario, asimetrías y desplazamiento de los implantes. Los objetivos del presente estudio son: describir el nuevo método triplanar como alternativa útil para lograr mejores resultados en pacientes con mala calidad de cobertura y analizar los resultados obtenidos con el mismo. Realizamos un estudio observacional, descriptivo, prospectivo, en un grupo de 268 pacientes con diagnóstico de ptosis mamaria con hipotrofia y mala calidad de cobertura por piel estriada, escaso tejido celular subcutáneo y pérdida del parénquima mamario, secundarios a lactancia prolongada y pérdida masiva de peso, entre otros, a las que se les practicó mamoplastia de aumento con implantes de silicona mediante la aplicación del método triplanar descrito por la autora, entre enero del 2004 y enero del 2013 en el Hospital de Bocagrande de Cartagena, Colombia. El diseño de la técnica se basa en los principios de cicatriz vertical descrita por Lassus o Lejour o mediante cicatriz en "J", descrita por la autora. El método triplanar se basa en tres planos de cobertura del implante. Plano I: submuscular, para cubrir los dos tercios superiores del implante. Plano II: colgajo dermoglandular con dos prolongaciones distales triangulares de tejido adiposo, en forma de pez, para cubrir el tercio inferior del implante y el borde libre del m

  6. Miastenia grave: avaliação clínica de 153 pacientes Myasthenia gravis: clinical evaluation of 153 patients

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    FRANCISCO MARCOS B. CUNHA

    1999-06-01

    Full Text Available São analisados, retrospectivamente, os prontuários dos doentes miastênicos diagnosticados e seguidos no período de fevereiro de 1973 a março de l995. Os principais achados clínicos foram ptose palpebral, diplopia, disfagia, disfonia ou disatria, dificuldade de mastigação, dispnéia, astenia, paresia da musculutura cervical e das extremidades. A partir das informações coletadas, os pacientes foram classificados clinicamente pela escala de Osserman-Genkins modificada, mas considerando o aspecto não dinâmico dessa escala, adotou-se a escala funcional de Niakan modificada, na qual os doentes são colocados nas seguintes condições: remissão, controlado, compensado, controle parcial, controle precário, sem resposta. Na casuística foram estudados 153 pacientes: 104 (68,0% do sexo feminino e 49 (32,0% do sexo masculino, numa proporção de 2,1:1. O tempo de doença variou de sete dias a 27 anos, com média de 6,26 anos (± 5,44. A idade dos primeiros sintomas variou entre 24 horas a 80 anos, com média de idade de 32,13 anos (±19,48. Até os 15 anos foram observados 30 doentes; entre 15 e 50 anos, 91 doentes; com idade acima de 50 anos, 32 doentes; após os 60 anos, a doença tem nítido predomínio entre os homens (1,5:1. Na amostra estudada, a forma auto-imunoadquirida foi a mais frequente, com comprometimento muscular generalizado, porém o envolvimento da musculatura ocular com ptose e diplopia se constituiu nas manifestações clínicas mais frequentes.We have retrospectively analysed the records of patients diagnosed as having myasthenia gravis and followed up in our departament from February 1973 to March 1995. The main clinical findings were ptosis, diplopia, dysphagia, disphonia or dysarthria, mastigatory impairment, dyspnea, asthenia, weakness of the cervical muscles and of the extremities, as well as findings of the physical and neurological examination. Based on the information collected, the patients were classified

  7. Miastenia grave ocular Severe ocular myastenia

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    Yaimir Estevéz Miranda

    2010-01-01

    Full Text Available La miastenia grave es una enfermedad autoinmune de la unión neuromuscular que se caracteriza por la variabilidad de la debilidad muscular, que empeora o está provocada por el ejercicio del músculo o de los grupos musculares implicados, mientras que el descanso la mejora. La primera descripción de la enfermedad data de 1672, su relación con una afección del timo no se estableció hasta 1901. La enfermedad es poco frecuente, afecta a todas las etnias por igual, y no tiene predilección geográfica. Se reporta un paciente masculino de 28 años de edad atendido en el Servicio de Oftalmología Pediátrica del Instituto Cubano de Oftalmología "Ramón Pando Ferrer" por presentar visión doble, ptosis palpebral ligera en ojo derecho que empeora con el transcurso del día. Por el interrogatorio y el cuadro clínico se sospecha de una miastenia grave, se remite al clínico y el neurólogo. En los estudios realizados de neuroimágenes, tomografía y electroencefalograma no se encontraron alteraciones. Se decide valorar el caso con el servicio de Neuroftalmología de nuestro centro y por el Instituto de Neurología y es confirmado el diagnóstico.Myasthenia gravis is an autoimmune illness of the neuromuscular joint that is characterized by the variability of the muscular weakness that worsens or caused by exercising of the muscle or the involved muscular groups; resting helps in improving the condition of the muscle. The first description of the illness dates back to 1672, but its linking to a thymus disorder was not discovered until 1901. This illness is not very frequent, affects equally to all the races, and it does not predominate in any particular geographic region. This paper presented a male patient aged 28 years who went to the Ophthalmologic Service at "Ramón Pando Ferrer" Cuban Institute of Ophthalmology because he suffered from double vision, slight palpebral ptosis in his right eye that became worse as the day went by. After the

  8. Frontoplastia endoscópica: três anos de experiência Endoscopic frontoplasty: 3-year experience

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    Lucas Gomes Patrocínio

    2006-10-01

    deficits noticed by the surgeon and the patient. Of the 7 patients submitted to the "triangles’ technique", all showed satisfactory results. All the patients had improvements on their ptosis of the lateral and glabellar third of the brows and reduction in vertical and frontal wrinkles. Revision surgery was necessary in 2 patients that had ptosis recurrence. There was one unilateral paralysis of the front branch of the facial nerve. With the "triangles’ technique", 5 patients presented visible scars. CONCLUSION: EFL is a technique that produces satisfactory results in the great majority of patients, with low complication rates.

  9. Sensorimotor Characteristics of Neuro-Ophthalmology and Oculo-Plastics Patients.

    Science.gov (United States)

    Christoff, Alex

    2015-01-01

    Certified orthoptists are routinely required, as a standard component of outpatient care, to examine and identify the cause of double vision described by neuro-ophthalmology and oculo-plastics patients. Peer-reviewed articles in the strabismus literature describing the significance of this role of the orthoptists, especially in more complex cases of strabismus, do exist, but are outdated. The importance of creating a differential diagnosis in the understanding of the disease process is a well-recognized component of medical education and modern medicine. This work was a retrospective chart review and descriptive study of the most common clinical characteristics of adult neuro-ophthalmology and oculo-plastics patients seen over a 9-year period by an orthoptist in a large, urban academic institution in the United States. History and clinical data obtained included demographic information; whether the subjects were neuro-ophthalmology or oculo-plastic patients or both; chief complaint; past medical history and associated medical risk factors; past ocular history of strabismus or amblyopia; whether reported diplopia was monocular or binocular; visual acuities; sensorimotor examination and fusion status information; presence or absence of ptosis; pupil size and reactivity; basic accommodative function; orthoptist and physician diagnoses; and suggested treatment of diplopia. Five hundred seventy-five subjects were identified based on inclusion criteria. Racial demographics matched that of the state of Maryland, with the majority of the patients being Caucasian. The minority were of Hispanic origin. Ninety-one percent of the study cohort was referred by the department of neuro-ophthalmology at the institution. Hypertension was a statistically significant medical risk factor for acquired strabismus and diplopia in this adult cohort. Etiology for the strabismus and associated diplopia suggested by the orthoptist was in close agreement with the final diagnosis made by the

  10. Evento com aparente risco de morte recorrente como manifestação inicial de síndrome miastênica congênita Evento con aparente riesgo de muerte recurrente como manifestación inicial de síndrome miasténico congénito Recurrent apparent life-threatening event as the first manifestation of congenital myasthenia

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    Mariana Tresoldi das N. Romaneli

    2013-03-01

    Full Text Available OBJETIVO: Alertar os pediatras sobre a necessidade de investigar criteriosamente a etiologia de eventos com aparente risco de morte recorrente. Não foram encontrados relatos associando tais eventos à miastenia congênita. DESCRIÇÃO DO CASO: Lactente de sete meses apresentando história de eventos com aparente risco de morte recorrente foi internado para investigação. Durante a internação, apresentou cianose e dispneia progressiva, com necessidade de ventilação mecânica por três dias. Após a melhora clínica, e tendo sido descartadas as hipóteses de doença do refluxo gastroesofágico e aspiração pulmonar como desencadeantes, notou-se ptose palpebral bilateral, hipotonia apendicular e choro fraco, que conduziram à suspeita clínica de miastenia congênita. Após confirmação do diagnóstico, foi mantido tratamento ambulatorial com piridostigmina, com recuperação nutricional e neurológica, sem novos eventos com aparente risco de morte nos três anos seguintes. COMENTÁRIOS: A investigação minuciosa das causas de eventos com aparente risco de morte pode levar a diagnósticos menos frequentes que exigem tratamento específico, como a miastenia congênita.OBJETIVO: Alertar a los pediatras sobre la necesidad de investigar criteriosamente la etiología de eventos con aparente riesgo de muerte recurrente. No se encontraron relatos asociando tales eventos a la miastenia congénita. DESCRIPCIÓN DEL CASO: Lactante de siete meses presentando historia de eventos con aparente riesgo de muerte recurrente fue internado para investigación. Durante la internación, presentó cianosis y disnea progresiva, con necesidad de ventilación mecánica por tres días. Después de la mejora clínica, y habiendo sido rechazadas las hipótesis de enfermedad del reflujo gastroesofágico y aspiración pulmonar como desencadenantes, se notó ptosis palpebral bilateral, hipotonía apendicular y lloro débil, que condujeron a la sospecha clínica de

  11. Botulinum toxin type A as treatment of partially accommodative esotropia.

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    Flores-Reyes, E M; Castillo-López, M G; Toledo-Silva, R; Vargas-Ortega, J; Murillo-Correa, C E; Aguilar-Ruiz, A

    2016-03-01

    To determine the effectiveness of a botulinum toxin type A injection in both medial rectus muscles in patients with partially accommodative esotropia. Residual deviation and stability of strabismus were evaluated at 18 months follow up. A prospective, analytical, quasi-experimental study was conducted on a cohort of 21 patients who underwent total cycloplegic refraction and with a residual deviation of at least 14 DP. A botulinum toxin type A dose of 5 IU was injected into each medial rectus muscle for a residual deviation greater than 18 DP, with a dose of 2.5 IU being used for a deviation between 14 and 18 DP. Multivariate logistic regression analyses were performed to relate residual deviation to variables recorded as potential predictors. A total of 21 patients were included, 33.3% (n=7) males and 66.6% (n=14) females. Mean visual acuity was -.28±.25 logMAR for right eye (range 0 to -1) and -.42±.31 logMAR for left eye (range 0 to -1.3). Mean angle of residual deviation before application of botulinum toxin was 40.95±8.6DP without spectacles correction, and 22.3±7.99 DP with full cycloplegic refraction. Adverse effects were ptosis in 14.2% (n=3), diplopia 23.8% (n=5), and vertical deviation in 33% (n=7). One patient had a poor outcome, therefore required surgical treatment. At one year follow up, 85.71% of patients showed good results with esotropia of 12 DP or less, dropping to 71.43% at 18 months of follow up. Botulinum toxin type A is an effective long-term treatment with a good response in 71.43% of patients. No predictors of good response were demonstrated. Copyright © 2015 Sociedad Española de Oftalmología. Published by Elsevier España, S.L.U. All rights reserved.

  12. Standard guidelines for the use of dermal fillers

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    Vedamurthy Maya

    2008-03-01

    Full Text Available Currently used fillers vary greatly in their sources, efficacy duration and site of deposition; detailed knowledge of these properties is essential for administering them. Indications for fillers include facial lines (wrinkles, folds, lip enhancement, facial deformities, depressed scars, periocular melanoses, sunken eyes, dermatological diseases-angular cheilitis, scleroderma, AIDS lipoatrophy, earlobe plumping, earring ptosis, hand, neck, dιcolletι rejuvenation. Physicians′ qualifications : Any qualified dermatologist may use fillers after receiving adequate training in the field. This may be obtained either during postgraduation or at any workshop dedicated to the subject of fillers. The physicians should have a thorough knowledge of the anatomy of the area designated to receive an injection of fillers and the aesthetic principles involved. They should also have a thorough knowledge of the chemical nature of the material of the filler, its longevity, injection techniques, and any possible side effects. Facility: Fillers can be administered in the dermatologist′s minor procedure room. Preoperative counseling and informed consent: Detailed counseling with respect to the treatment, desired effects, and longevity of the filler should be discussed with the patient. Patients should be given brochures to study and adequate opportunity to seek information. Detailed consent forms need to be completed by the patients. A consent form should include the type of filler, longevity expected and possible postoperative complications. Preoperative photography should be carried out. Choice of the filler depends on the site, type of defect, results needed, and the physician′s experience. Injection technique and volume depend on the filler and the physician′s preference, as outlined in these guidelines.

  13. Does Increasing the Dose of Abobotulinumtoxina Impact the Duration of Effectiveness for the Treatment of Moderate to Severe Glabellar Lines?

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    Joseph, John H; Eaton, Laura L; Robinson, James; Pontius, Allison; Williams, Edwin F

    2016-12-01

    To evaluate the duration of effect of a single dose of 120 units of abobotulinumtoxinA for the treatment of moderate to severe glabellar lines. Investigator-initiated, prospective, multi-center, open-label study. This open-label trial of thirty subjects with moderate to severe glabellar lines at maximum frown was per- formed at 2 private plastic surgery clinics. 120 units of abobotulinumtoxinA was injected in 5 equal aliquots (24 units each) into each of 5 injection sites in the glabellar complex. Investigator and subject assessments of wrinkle severity at maximum frown and repose using 4-point scales and adverse events were conducted. Follow-up was monthly for up to 11 months. The median duration of response for all subjects, as assessed by the investigator, was 150 days (95% CI: 120, 180). The median duration of response was 165 days (95% CI: 90, 180) for subjects with Grade 2 (Moderate) wrinkles at baseline and 75 days (95% CI: 30, 120) for subjects with Grade 3 (Severe) wrinkles at baseline. Overall, 76.7% of subjects had a duration of ≥ 120 days. At the end of study (day 300) 9/16 (53%) of subjects who were Grade 3 at baseline still rated themselves as not returning to Grade 3, demonstrating ongoing improvement. Adverse events were mild and transient. There were no events of lid or brow ptosis. The 120 units of abobotulinumtoxinA were significantly effective in reducing glabellar lines in subjects with Grade 2 (Moderate) wrinkles at baseline for a longer duration than the reported 85 days in the FDA Phase III randomized, placebo-controlled clinical studies using a standard 50 unit dose. Subject satisfaction was high. There was no increase in the incidence of adverse events with this higher dose. J Drugs Dermatol. 2016;15(12):1544-1549.

  14. Orbital apex syndrome associated with herpes zoster ophthalmicus

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    Kurimoto T

    2011-11-01

    Full Text Available Takuji Kurimoto1, Masahiro Tonari1, Norihiko Ishizaki1, Mitsuhiro Monta2, Saori Hirata2, Hidehiro Oku1, Jun Sugasawa1, Tsunehiko Ikeda11Department of Ophthalmology, Osaka Medical College, 2Department of Ophthalmology, Shitennoji Hospital, Osaka, JapanAbstract: We report our findings for a patient with orbital apex syndrome associated with herpes zoster ophthalmicus. Our patient was initially admitted to a neighborhood hospital because of nausea and loss of appetite of 10 days' duration. The day after hospitalization, she developed skin vesicles along the first division of the trigeminal nerve, with severe lid swelling and conjunctival injection. On suspicion of meningoencephalitis caused by varicella zoster virus, antiviral therapy with vidarabine and betamethasone was started. Seventeen days later, complete ptosis and ophthalmoplegia developed in the right eye. The light reflex in the right eye was absent and anisocoria was present, with the right pupil larger than the left. Fat-suppressed enhanced T1-weighted magnetic resonance images showed high intensity areas in the muscle cone, cavernous sinus, and orbital optic nerve sheath. Our patient was diagnosed with orbital apex syndrome, and because of skin vesicles in the first division of the trigeminal nerve, the orbital apex syndrome was considered to be caused by herpes zoster ophthalmicus. After the patient was transferred to our hospital, prednisolone 60 mg and vidarabine antiviral therapy was started, and fever and headaches disappeared five days later. The ophthalmoplegia and optic neuritis, but not the anisocoria, gradually resolved during tapering of oral therapy. From the clinical findings and course, the cause of the orbital apex syndrome was most likely invasion of the orbital apex and cavernous sinus by the herpes virus through the trigeminal nerve ganglia.Keywords: varicella zoster virus, orbital apex syndrome, herpes zoster ophthalmicus, complete ophthalmoplegia

  15. Death Adder Envenoming Causes Neurotoxicity Not Reversed by Antivenom - Australian Snakebite Project (ASP-16)

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    Johnston, Christopher I.; O'Leary, Margaret A.; Brown, Simon G. A.; Currie, Bart J.; Halkidis, Lambros; Whitaker, Richard; Close, Benjamin; Isbister, Geoffrey K.

    2012-01-01

    Background Death adders (Acanthophis spp) are found in Australia, Papua New Guinea and parts of eastern Indonesia. This study aimed to investigate the clinical syndrome of death adder envenoming and response to antivenom treatment. Methodology/Principal Findings Definite death adder bites were recruited from the Australian Snakebite Project (ASP) as defined by expert identification or detection of death adder venom in blood. Clinical effects and laboratory results were collected prospectively, including the time course of neurotoxicity and response to treatment. Enzyme immunoassay was used to measure venom concentrations. Twenty nine patients had definite death adder bites; median age 45 yr (5–74 yr); 25 were male. Envenoming occurred in 14 patients. Two further patients had allergic reactions without envenoming, both snake handlers with previous death adder bites. Of 14 envenomed patients, 12 developed neurotoxicity characterised by ptosis (12), diplopia (9), bulbar weakness (7), intercostal muscle weakness (2) and limb weakness (2). Intubation and mechanical ventilation were required for two patients for 17 and 83 hours. The median time to onset of neurotoxicity was 4 hours (0.5–15.5 hr). One patient bitten by a northern death adder developed myotoxicity and one patient only developed systemic symptoms without neurotoxicity. No patient developed venom induced consumption coagulopathy. Antivenom was administered to 13 patients, all receiving one vial initially. The median time for resolution of neurotoxicity post-antivenom was 21 hours (5–168). The median peak venom concentration in 13 envenomed patients with blood samples was 22 ng/mL (4.4–245 ng/mL). In eight patients where post-antivenom bloods were available, no venom was detected after one vial of antivenom. Conclusions/Significance Death adder envenoming is characterised by neurotoxicity, which is mild in most cases. One vial of death adder antivenom was sufficient to bind all circulating venom. The

  16. Aesthetic Female-to-Male Chest Transformation: Power of Combining Modified Mastectomy with a Pectoral Implant

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    Turkia Abbed, MD

    2017-08-01

    Full Text Available Summary:. Gender reassignment surgery has gained in popularity with increased media exposure and society’s recognition of gender dysphoria. Female-to-male gender reassignment often begins with the “top” or chest surgery. Mastectomy with free nipple grafting is the most frequently described technique in the literature. This technique is reliable yet lacks the ability to provide a true male chest shape. We discuss our technique for female-to-male “top” surgery combining traditional mastectomy techniques with a lower pole pedicle vascularized areola and a pectoral implant. A 32-year-old African American female with bilateral C cup breast with grade 2/3 ptosis presented for “top” surgery. Intraoperatively, the nipple areola complex was maintained on a lower pole pedicle at a thickness of 1.5 cm to maintain neurovascularity. A superior mastectomy flap was raised at the level of the breast capsule and remaining breast tissue excised. A lateral subpectoral pocket was created for insertion of a silicone pectoral implant. The new nipple position matured in the infero-lateral quadrant of greatest projecting portion of the chest. Lower pole pedicle provided vascularity to the areola, which avoids the need for a free nipple graft and potential hypopigmentation. Pectoral silicone implant provided upper pole fullness to mimic the male chest muscular distribution. Modification of mastectomy-based female-to-male gender reassignment surgery with a lower pole pedicle–based areola and pectoral implant provides an aesthetic improvement over the classic mastectomy with free nipple graft technique.

  17. Noonan syndrome

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    van der Burgt Ineke

    2007-01-01

    Full Text Available Abstract Noonan Syndrome (NS is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency and lymphatic dysplasias. The syndrome is transmitted as an autosomal dominant trait. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the non-receptor protein tyrosine phosphatase SHP-2 protein. Recently, mutations in the KRAS gene have been identified in a small proportion of patients with NS. A DNA test for mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. NS should be considered in all foetuses with polyhydramnion, pleural effusions, oedema and increased nuchal fluid with a normal karyotype. With special care and counselling, the majority of children with NS will grow up and function normally in the adult world. Management should address feeding problems in early childhood, evaluation of cardiac function and assessment of growth and motor development. Physiotherapy and/or speech therapy should be offered if indicated. A complete eye examination and hearing evaluation should be performed during the first few years of schooling. Preoperative coagulation studies are indicated. Signs and symptoms lessen with age and most adults with NS do not require special medical care.

  18. Pre- and postoperative quantitative analysis of contour abnormalities in Graves upper eyelid retraction.

    Science.gov (United States)

    Ribeiro, Sara F T; Milbratz, Gherusa H; Garcia, Denny M; Devoto, Martin; Guilherme Neto, H; Mörschbächer, Ricardo; Pereira, Filipe J; Cruz, Antonio A V

    2012-01-01

    One of the most common problems of the surgical management of Graves upper eyelid retraction is the occurrence of eyelid contour abnormalities. In the present study, the postoperative contour of a large sample of eyelids of patients with Graves orbitopathy was measured. The postoperative upper eyelid contour of 62 eyes of 43 patients with Graves orbitopathy was subjectively classified by 3 experienced surgeons in 3 categories: poor, fair, and good. The shape of the eyelid contours in each category was then measured with a recently developed custom-made software by measuring multiple midpupil eyelid distances each 15° along the palpebral fissure. The upper eyelid contour of 60 normal subjects was also quantified as a control group. The mean ratio between the sum of the lateral and medial midpupil eyelid distances (lateral/medial ratio) was 1.10 ± 0.11 standard deviation in controls and 1.15 ± 0.13 standard deviation in patients. Postoperatively, the mean midpupil eyelid distance at 90° was 4.16 ± 1.13 mm standard deviation. The distribution lateral/medial ratios of the eyelids judged as having good contours was similar to the distribution of the controls with a modal value centered on the interval between 1.0 and 1.10. The distribution of lateral/medial ratios of the eyelids judged as having poor contour was bimodal, with eyelids with low and high lateral/medial ratios. Low lateral/medial ratios occurred when there was a lateral overcorrection, giving the eyelid a flat or a medial ptosis appearance. High lateral/medial ratios were due to a central or medial overcorrection or a lateral peak maintenance. Postoperative upper eyelid contour abnormalities can be quantified by comparing the sum of multiple midpupil eyelid distances of the lateral and medial sectors of the eyelid. Low and high lateral/medial ratios are anomalous and judged as unpleasant.

  19. Ritidoplastia con doble anclaje: una técnica para principiantes

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    B. Mole

    2013-09-01

    Full Text Available Nuestra opción técnica del lifting cérvico-facial reposa sobre los tres principios siguientes: disección subcutánea después de haber efectuado una pasada con una cánula fina, introducida por 2 o 3 mini-incisiones, primer anclaje clásico a la altura del SMAS y segundo anclaje tras lograr la tensión apropiada del colgajo cutáneo a 1 cm de la incisión inicial. Reconocemos las siguientes ventajas de este método: seguridad en el plano de disección, ausencia de tracción a nivel de las cicatrices y respeto del capital capilar, proporcionando un resultado final natural de acuerdo a la solicitud por parte del tipo de pacientes que por lo general vemos en Francia. La técnica propuesta puede ser particularmente útil para aquellos cirujanos con experiencia limitada. Presentamos una serie de 132 casos recogidos en los últimos 5 años. La tasa de reintervención fue del 3 % , pero pensamos que subestima la calidad de los resultados y que debemos continuar esforzándonos por evitar las eventuales correcciones insuficientes de la ptosis yugal, de los surcos nasogenianos y del contorno mandibular. Preconizamos como vía de acceso la vía anterior, sobre todo en los cuellos difíciles y limitamos al máximo la disección mastoidea. Limitamos en lo posible las técnicas de tensión malar, origen de postoperatorios difíciles de manejar, y preferimos la restauración del volumen de la región empelando lipoinfiltración secundaria o el uso si es necesario, de algunos de los productos voluminizadores que actualmente están disponibles.

  20. ORBITAL INJURIES

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    Andrej Kansky

    2002-12-01

    Full Text Available Background. Orbit is involved in 40% of all facial fractures. There is considerable variety in severity, ranging from simple nondisplaced to complex comminuted fractures. Complex comminuted fractures (up to 20% are responsible for the majority of complications and unfavorable results. Orbital fractures are classified as internal orbital fractures, zygomatico-orbital fractures, naso-orbito-ethmoidal fractures and combined fractures. The ophtalmic sequelae of midfacial fractures are usually edema and ecchymosis of the soft tissues, subconjuctival hemorrhage, diplopia, iritis, retinal edema, ptosis, enophthalmos, ocular muscle paresis, mechanical restriction of ocular movement and nasolacrimal disturbances. More severe injuries such as optic nerve trauma and retinal detachments have also been reported. Within the wide range of orbital fractures small group of complex fractures causes most of the sequelae. Therefore identification of severe injuries and adequate treatment is of major importance. The introduction of craniofacial techniques made possible a wide exposure even of large orbital wall defects and their reconstruction by bone grafts. In spite of significant progress, repair of complex orbital wall defects remains a problem even for the experienced surgeons.Results. In 1999 121 facial injuries were treated at our department (Clinical Centre Ljubljana Dept. Of Maxillofacial and Oral Surgery. Orbit was involved in 65% of cases. Isolated inner orbital fractures presented 4% of all fractures. 17 (14% complex cases were treated, 5 of them being NOE, 5 orbital (frame and inner walls, 3 zygomatico-orbital, 2 FNO and 2 maxillo-orbital fractures.Conclusions. Final result of the surgical treatment depends on severity of maxillofacial trauma. Complex comminuted fractures are responsable for most of the unfavorable results and ocular function is often permanently damaged (up to 75% in these fractures.

  1. Nationwide survey of Arima syndrome: revised diagnostic criteria from epidemiological analysis.

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    Itoh, Masayuki; Iwasaki, Yuji; Ohno, Kohsaku; Inoue, Takehiko; Hayashi, Masaharu; Ito, Shuichi; Matsuzaka, Tetsuo; Ide, Shuhei; Arima, Masataka

    2014-05-01

    We have never known any epidemiological study of Arima syndrome since it was first described in 1971. To investigate the number of Arima syndrome patients and clarify the clinical differences between Arima syndrome and Joubert syndrome, we performed the first nationwide survey of Arima syndrome, and herein report its results. Furthermore, we revised the diagnostic criteria for Arima syndrome. As a primary survey, we sent out self-administered questionnaires to most of the Japanese hospitals with a pediatric clinic, and facilities for persons with severe motor and intellectual disabilities, inquiring as to the number of patients having symptoms of Arima syndrome, including severe psychomotor delay, agenesis or hypoplasia of cerebellar vermis, renal dysfunction, visual dysfunction and with or without ptosis-like appearance. Next, as the second survey, we sent out detailed clinical questionnaires to the institutes having patients with two or more typical symptoms. The response rate of the primary survey was 72.7% of hospitals with pediatric clinic, 63.5% of national hospitals and 66.7% of municipal and private facilities. The number of patients with 5 typical symptoms was 13 and that with 2-4 symptoms was 32. The response rate of the secondary survey was 52% (23 patients). After reviewing clinical features of 23 patients, we identified 7 Arima syndrome patients and 16 Joubert syndrome patients. Progressive renal dysfunction was noticed in all Arima syndrome patients, but in 33% of those with Joubert syndrome. It is sometimes difficult to distinguish Arima syndrome from Joubert syndrome. Some clinicians described a patient with Joubert syndrome and its complications of visual dysfunction and renal dysfunction, whose current diagnosis was Arima syndrome. Thus, the diagnosis of the two syndromes may be confused. Here, we revised the diagnostic criteria for Arima syndrome. Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights

  2. Surgical treatment in patients with double elevator palsy.

    Science.gov (United States)

    Yurdakul, Nazife Sefi; Ugurlu, Seyda; Maden, Ahmet

    2009-01-01

    To evaluate the effectiveness of surgical treatment performed in patients with double elevator palsy (DEP). Patients diagnosed with congenital DEP between April 2003 and March 2007 were included in the study. The cases with positive traction test had inferior rectus (IR) recession followed by full tendon width muscle transposition Knapp surgery or partial tendon width transposition operation, while those without positive traction test underwent transposition procedure alone. Transposition surgery was combined with recession and resection of horizontal rectus muscles in patients with exotropia according to the amount of horizontal deviation. Eyelid surgery was applied in patients with ptosis following strabismus surgery. The average age of 13 patients was 14+/-32.5 years (range, 3-60 years). Five patients (38%) were female and 8 patients (62%) were male. The mean preoperative hypotropia was decreased from 29.2+/-3.5 prism diopters (PD) (range, 16-45 PD) to 2.6+/-2.8 PD (range, 0-6 PD) postoperatively. The median amount of horizontal deviation in patients with exotropia (n=4) was 30 PD (range, 25-45 PD) preoperatively; it was reduced to 2 PD (range, 0-8 PD) postoperatively. Mean follow-up period was 14.1+/-2.8 months (range, 6-31 months). Five patients (38%) underwent eyelid surgery, and all achieved cosmetically satisfactory results. Transposition surgery alone or combined with IR recession is an effective procedure in treatment of double elevator palsy. In patients with moderate horizontal deviations, recession and resection of horizontal rectus muscles combined with transposition provide correction of the horizontal deviation at the same time.

  3. A Novel Supra-Brow Combined with Infra-Brow Lift Approach for Asian Women.

    Science.gov (United States)

    Shu, Maoguo; He, Lin; Su, Yingjun; Shi, Junli; Zhang, Xi; Liu, Xiangyu; Yu, Xueyuan

    2016-06-01

    Direct brow lift surgery remains popular among Asian women despite its disadvantages. The traditional direct brow lift by a supra-brow incision is not suitable for Asian women because of their unique facial features, such as higher eyebrows, wider upper eyelids, and more orbital fat. Therefore, we designed a novel brow lift technique via a supra-brow combined with an infra-brow approach for Asian women. An area of skin above and below the eyebrow was measured, demarcated, and surgically removed. The redundant orbicularis oculi muscle (OOM) was excised while keeping the frontalis muscle intact. The OOM in the inferior flap was elevated and sutured to the frontalis muscle. In cases of puffy eyelids, orbital fat was partially removed through an infra-brow incision. Finally, a series of modifications were performed to reduce post-operative scarring. A total of 496 patients underwent this surgery from July 2009 to December 2013 and 432 patients were followed up for at least 6 months after surgery. Post-operative scars, in most patients (428/432), were inconspicuous. There were no facial nerve injuries documented and eight patients reported transient forehead numbness. The height of the palpebral fissure was increased but there was no marked increase observed of the distance between the upper eyelid edge and the eyebrow. In follow-up visits, 409 out of 432 patients (94.7 %) were satisfied with their surgical results. This new brow lift technique via a supra-brow combined with an infra-brow approach provided a simple and safe surgical repair of lateral brow ptosis, upper eyelids hooding, and crows' feet in Asian women. The surgical outcomes were predictable and the scars were inconspicuous. This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

  4. Occipital lobe infarction: a rare presentation of bilateral giant cavernous carotid aneurysms: a case report.

    Science.gov (United States)

    Vanikieti, Kavin; Poonyathalang, Anuchit; Jindahra, Panitha; Cheecharoen, Piyaphon; Chokthaweesak, Wimonwan

    2018-02-02

    Cavernous carotid aneurysm (CCA) represents 2-9% of all intracranial aneurysms and 15% of internal carotid artery (ICA) aneurysms; additionally, giant aneurysms are those aneurysms that are > 25 mm in size. Bilateral CCAs account for 11-29% of patients and are commonly associated with structural weaknesses in the ICA wall, secondary to systemic hypertension. CCAs are considered benign lesions, given the low risk for developing major neurologic morbidities (i.e., subarachnoid hemorrhage, cerebral infarction, or carotid cavernous fistula). Moreover, concurrent presentation with posterior circulation cerebral infarction is even rarer, given different circulation territory from CCA. Here, we report on a patient with bilateral giant CCAs who presented with both typical and atypical symptoms. An 88-year-old hypertensive woman presented with acute vertical oblique binocular diplopia, followed by complete ptosis of the right eye. Ophthalmic examination showed dysfunction of the right third, fourth, and sixth cranial nerves. Further examination revealed hypesthesia of the areas supplied by the ophthalmic (V1) and maxillary (V2) branches of the right trigeminal nerve. Bilateral giant cavernous carotid aneurysms, with a concurrent subacute right occipital lobe infarction, were discovered on brain imaging and angiogram. Additionally, a prominent right posterior communicating artery (PCOM) was revealed. Seven months later, clinical improvement with stable radiographic findings was documented without any intervention. Dysfunction of the third, fourth, and sixth cranial nerves, and the ophthalmic (V 1 ) and maxillary (V 2 ) branches of the trigeminal nerves, should necessitate brain imaging, with special attention given to the cavernous sinus. Despite unilateral symptomatic presentation, bilateral lesions cannot be excluded solely on the basis of clinical findings. CCA should be included in the differential diagnosis of cavernous sinus lesions. Although rare, ipsilateral

  5. Parálisis Parcial del Nervio Oculomotor Secundaria a Zoster Sine Herpete: Reporte de Un Caso

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    Oscar L. Rueda O.

    2013-12-01

    Full Text Available Introducción: Herpes Zoster es la reactivación del Virus Varicela Zóster en los ganglios sensoriales y/o autonómicos, típicamente caracterizado por dolor profundo de distribución dermatómica y erupciones vesiculares en piel. De manera infrecuente, puede presentarse el Zoster Sine Herpete, condición en la cual se presenta la distribución dermatómica del dolor en ausencia de lesiones dérmicas, convirtiendo el diagnóstico en un reto clínico. Caso clínico: Hombre de 69 años con dolor periorbitario, epifora, ptosis y pérdida de la aducción del ojo derecho. Los estudios imagenológicos y de laboratorio fueron normales, descartando así las principales causas de parálisis del nervio oculomotor. Se hizo diagnóstico presuntivo de Zoster Sine Herpete y se inició prueba terapéutica con valaciclovir, observándose resolución total de la sintomatología seis semanas después. Discusión: Este caso puede ser el primero en describir una parálisis parcial dolorosa del nervio oculomotor como única manifestación clínica de la reactivación del Virus Varicela Zóster y busca alertar al personal médico sobre una enfermedad latente que hace de sus reapariciones una gama de presentaciones no siempre fáciles de identificar.

  6. Timoma do mediastino médio: relato de caso Middle mediastinal thymoma: case report

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    Elias Kallás

    2005-06-01

    Full Text Available Paciente do sexo feminino, 55 anos, branca, com sinais clínicos sugestivos de miastenia gravis há aproximadamente 3 meses. A prova terapêutica com neostigmina evidenciou melhora da disfagia e ptose palpebral. Na radiografia de tórax observou-se imagem ocupando o mediastino médio com projeção à direita. A tomografia computadorizada de tórax revelou a presença de massa no mediastino médio, sendo indicado o tratamento cirúrgico. Chamou nossa atenção a localização pouco usual, já que, preferencialmente, os timomas localizam-se no mediastino superior e anterior. A evolução pós-operatória foi boa, sem complicações.We report on a case of a 55-year-old female, patient, who presented with clinical signs suggestive of myasthenia gravis over a period of approximately 3 months. The therapeutic option using neostigmine gave an improvement of the dysphagia and palpebral ptosis. A chest radiograph image demonstrated a mass occupying the medium mediastinum with projection to the right. Computed tomography of the thorax revealed the presence of a mass in the medium mediastinum, and thus surgery was inicated. During the operation the was was observed in the medium mediastinum suggesting thymoma. What caught our attention was the unusual location of the tumor as normally thymomas are found in the upper and anterior mediastinum.

  7. Takotsubo cardiomyopathy associated with Miller-Fisher syndrome.

    Science.gov (United States)

    Gill, Dalvir; Liu, Kan

    2017-07-01

    51-year-old female who presented with progressive paresthesia, numbness of the lower extremities, double vision, and trouble walking. Physical exam was remarkable for areflexia, and ptosis. Her initial EKG showed nonspecific ST segment changes and her Troponin T was elevated to 0.41ng/mL which peaked at 0.66ng/mL. Echocardiogram showed a depressed left ventricular ejection fraction to 35% with severely hypokinetic anterior wall and left ventricular apex was severely hypokinetic. EMG nerve conduction study showed severely decreased conduction velocity and prolonged distal latency in all nerves consistent with demyelinating disease. She was treated with 5days of intravenous immunoglobulin therapy to which she showed significant improvement in strength in her lower extremities. Echocardiogram repeated 4days later showing an improved left ventricular ejection fraction of 55% and no left ventricular wall motion abnormalities. Takotsubo cardiomyopathy is a rare complication of Miller-Fisher syndrome and literature review did not reveal any cases. Miller-Fisher syndrome is an autoimmune process that affects the peripheral nervous system causing autonomic dysfunction which may involve the heart. Due to significant autonomic dysfunction in Miller-Fisher syndrome, it could lead to arrhythmias, blood pressure changes, acute coronary syndrome and myocarditis, Takotsubo cardiomyopathy can be difficult to distinguish. The treatment of Takotsubo cardiomyopathy is supportive with beta-blockers and angiotensin-converting enzyme inhibitors are recommended until left ventricle ejection fraction improvement. Takotsubo cardiomyopathy is a rare complication during the acute phase of Miller-Fisher syndrome and must be distinguished from autonomic dysfunction as both diagnoses have different approaches to treatment. Published by Elsevier Inc.

  8. Minimally invasive facial rejuvenation endolaser mid-face lift.

    Science.gov (United States)

    Badin, A Z; Casagrande, C; Roberts, T; Saltz, R; Moraes, L M; Santiago, M; Chiaratti, M G

    2001-01-01

    Endolaser mid-face lift was performed on patients in a multi-center study over a 36-month period (Feb. 1998 to Feb. 2001). It permits significant facial rejuvenation through small incisions. This technique achieves aesthetic results and wider rejuvenation while being less traumatic and creating minimal morbidity. Combined with other procedures, it rejuvenates the face by three strategic methods: soft tissue suspension, reversal of photo aging, and correction of the depletion of volume. To achieve this triple result, the mid-face lift is performed by endoscopic approach, and in every case is combined with the endoscopic lift of the frontal area. Laser resurfacing was used to reverse skin photo damage. The Ultrapulse CO2 laser and/or the Ultrafine Erbium YAG(Coherent, Inc, Palo Alto, CA) were used. The third combined procedure was the introduction of fat graft to compensate the atrophy/ptosis of fat and the depletion of bone mass (other filling materials besides fat may be used, depending on the preference of the surgeon). Our method of fixation using the Casagrande Needle (an evolution of Reverdin Needle) makes the mechanical purchase on the tissues to be suspended much easier, permitting the intra-oral and/or infra-orbital incisions to be eliminated. The present study of the technical evolution of the endolaser mid-face lift method allows us to conclude that a very satisfactory outcome has been reached, offering patients a minimally invasive procedure, which can be performed under local anesthesia, with low morbidity, imperceptible incisions, and an excellent long-term result.

  9. Risk factors, microbiological findings, and clinical outcomes in cases of microbial keratitis admitted to a tertiary referral center in ireland.

    LENUS (Irish Health Repository)

    Saeed, Ayman

    2012-02-01

    AIM: To identify the risk factors for, and to report the microbiological findings and clinical outcomes of, severe microbial keratitis (MK). METHODS: This was a retrospective study of all cases of presumed MK admitted to a tertiary referral center over a 2-year period (September 2001 to August 2003). Data recorded included demographic data, details relating to possible risk factors, results of microbiological studies, clinical findings at presentation, and clinical and visual outcomes. RESULTS: Ninety patients were admitted with a diagnosis of presumed MK during the study period. The mean age of patients was 45 +\\/- 32 years, and the male to female ratio was 47:43 (52.2%:47.7%). Predisposing risk factors for MK included contact lens wear (37; 41.1%), anterior segment disease (19; 21.1%), ocular trauma (13; 14.4%), systemic disease (5; 5.6%), and previous ocular surgery (1; 1.1%). Cultured organisms included gram-negative bacteria (17; 51.5%), gram-positive bacteria (11, 33.3%), acanthamoeba (2; 6.1%), and fungi (1; 3%). Visual acuity improved significantly after treatment [mean best-corrected visual acuity (+\\/-standard deviation) at presentation: 0.76 (+\\/-0.11); mean best-corrected visual acuity at last follow-up: 0.24 (+\\/-0.07); P < 0.001]. Secondary surgical procedures were required in 18 (20%) cases, and these included punctal cautery (1; 1.1%), tissue glue repair of corneal perforation (2; 2.2%), tarsorrhaphy (9; 9.9%), Botulinum toxin-induced ptosis (1; 1.1%), penetrating keratoplasty (3; 3.3%), and evisceration (2; 2.2%). CONCLUSIONS: Contact lens wear remains a significant risk factor for severe MK. MK remains a threat to vision and to the eye, but the majority of cases respond to prompt and appropriate antimicrobial therapy.

  10. Study of crotoxin on the induction of paralysis in extraocular muscle in animal model

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    Geraldo de Barros Ribeiro

    2012-10-01

    Full Text Available PURPOSE: Crotoxin is the major toxin of the venom of the South American rattlesnake Crotalus durissus terrificus, capable of causing a blockade of the neurotransmitters at the neuromuscular junction. The objective of this study was to appraise the action and effectiveness of the crotoxin induced paralysis of the extraocular muscle and to compare its effects with the botulinum toxin type A (BT-A. METHODS: The crotoxin, with LD50 of 1.5 µg, was injected into the superior rectus muscle in ten New Zealand rabbits. The concentration variance was 0.015 up to 150 µg. Two rabbits received 2 units of botulinum toxin type A for comparative analysis. The evaluation of the paralysis was performed using serial electromyography. After the functional recovery of the muscles, which occurred after two months, six rabbits were sacrificed for anatomopathology study. RESULTS: The animals did not show any evidence of systemic toxicity. Transitory ptosis was observed in almost every animal and remained up to fourteen days. These toxins caused immediate blockade of the electrical potentials. The recovery was gradual in the average of one month with regeneration signs evident on the electromyography. The paralysis effect of the crotoxin on the muscle was proportional to its concentration. The changes with 1.5 µg crotoxin were similar to those produced by the botulinum toxin type A. The histopathology findings were localized to the site of the injection. No signs of muscle fiber's necrosis were seen in any sample. The alterations induced by crotoxin were also proportional to the concentration and similar to botulinum toxin type A in concentration of 1.5 µg. CONCLUSION: Crotoxin was able to induce transitory paralysis of the superior rectus muscle. This effect was characterized by reduction of action potentials and non-specific signs of fibrillation. Crotoxin, in concentration of 1.5 µg was able to induce similar effects as botulinum toxin type A.

  11. Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

    Science.gov (United States)

    Martinelli, Paola; Cherukuri, Praveen F.; Teer, Jamie K.; Hansen, Nancy F.; Cruz, Pedro; Mullikin for the NISC Comparative Sequencing Program, James C.; Blakesley, Robert W.; Golas, Gretchen; Kwan, Justin; Sandler, Anthony; Fuentes Fajardo, Karin; Markello, Thomas; Tifft, Cynthia; Blackstone, Craig; Rugarli, Elena I.; Langer, Thomas; Gahl, William A.; Toro, Camilo

    2011-01-01

    We report an early onset spastic ataxia-neuropathy syndrome in two brothers of a consanguineous family characterized clinically by lower extremity spasticity, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy. Whole-exome sequencing identified a homozygous missense mutation (c.1847G>A; p.Y616C) in AFG3L2, encoding a subunit of an m-AAA protease. m-AAA proteases reside in the mitochondrial inner membrane and are responsible for removal of damaged or misfolded proteins and proteolytic activation of essential mitochondrial proteins. AFG3L2 forms either a homo-oligomeric isoenzyme or a hetero-oligomeric complex with paraplegin, a homologous protein mutated in hereditary spastic paraplegia type 7 (SPG7). Heterozygous loss-of-function mutations in AFG3L2 cause autosomal-dominant spinocerebellar ataxia type 28 (SCA28), a disorder whose phenotype is strikingly different from that of our patients. As defined in yeast complementation assays, the AFG3L2Y616C gene product is a hypomorphic variant that exhibited oligomerization defects in yeast as well as in patient fibroblasts. Specifically, the formation of AFG3L2Y616C complexes was impaired, both with itself and to a greater extent with paraplegin. This produced an early-onset clinical syndrome that combines the severe phenotypes of SPG7 and SCA28, in additional to other “mitochondrial” features such as oculomotor apraxia, extrapyramidal dysfunction, and myoclonic epilepsy. These findings expand the phenotype associated with AFG3L2 mutations and suggest that AFG3L2-related disease should be considered in the differential diagnosis of spastic ataxias. PMID:22022284

  12. RECURRENT CORNEAL EROSION SYNDROME (a review

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    S. V. Trufanov

    2015-01-01

    Full Text Available Recurrent corneal erosion (RCE syndrome is characterized by episodes of recurrent spontaneous epithelial defects. Main clinical symptoms (pain, redness, photophobia, lacrimation occurred at night. Corneal lesions revealed by slit lamp exam vary depending on the presence of corneal epithelium raise, epithelial microcysts or epithelial erosions, stromal infiltrates and opacities. Microtraumas, anterior corneal dystrophies, and herpesvirus give rise to RCE. Other causes or factors which increase the risk of RCE syndrome include meibomian gland dysfunction, keratoconjunctivitis sicca, diabetes, and post-LASIK conditions. Basal membrane abnormalities and instability of epithelial adhesion to stroma play a key role in RCE pathogenesis. Ultrastructural changes in RCE include abnormalities of basal epithelial cells and epithelial basal membrane, absence or deficiency of semi-desmosomes, loss of anchor fibrils. Increase in matrix metalloproteinases and collagenases which contribute to basal membrane destruction results in recurrent erosions and further development of abnormal basal membrane. The goals of RCE therapy are to reduce pain (in acute stage, to stimulate re-epithelization, and to restore «adhesion complex» of basal membrane. In most cases, RCE responds to simple conservative treatment that includes lubricants, healing agents, and eye patches. RCEs that are resistant to simple treatment, require complex approach. Non-invasive methods include long-term contact lens use, instillations of autologous serum (eye drops, injections of botulinum toxin (induces ptosis, antiviral agent use or oral intake of metalloproteinase inhibitors. Cell membrane stabilizers, i.e., antioxidants, should be included into treatment approaches as well. Antioxidant effect of Emoxipine promotes tissue reparation due to the prevention of cell membrane lipid peroxidation as well as due to its anti-hypoxic, angioprotective, and antiplatelet effects. If conservative therapy

  13. Genetic Analysis of Multiple Endocrine Neoplasia Type 1 ( Leads to Misdiagnosis of an Extremely Rare Presentation of Intrasellar Cavernous Hemangioma as MEN1

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    Dong Min Lee

    2014-06-01

    Full Text Available BackgroundMultiple endocrine neoplasia type 1 (MEN1 is a rare inherited disorder characterized by the simultaneous occurrence of endocrine tumors in target tissues (mainly the pituitary, endocrine pancreas, and parathyroid glands. MEN1 is caused by mutations in the MEN1 gene, which functions as a tumor suppressor and consists of one untranslated exon and nine exons encoding the menin protein. This condition is usually suspected when we encounter patients diagnosed with tumors in multiple endocrine organs, as mentioned above.MethodsA 65-year-old woman who underwent surgery for a pancreatic tumor (serous cystadenoma 5 years previously was referred to our hospital due to neurologic symptoms of diplopia and left ptosis. Brain magnetic resonance imaging revealed a 3.4-cm lesion originating from the cavernous sinus wall and extending into the sellar region. It was thought to be a nonfunctioning tumor from the results of the combined pituitary function test. Incidentally, we found that she also had a pancreatic tumor, indicating the necessity of genetic analysis for MEN1.ResultsGenomic analysis using peripheral leukocytes revealed a heterozygous c.1621G>A mutation in the MEN1 gene that was previously reported to be either a pathogenic mutation or a simple polymorphism. We pursued a stereotactic approach to the pituitary lesion, and microscopic findings of the tumor revealed it to be an intrasellar cavernous hemangioma, a rare finding in the sellar region and even rarer in relation to oculomotor palsy. The patient recovered well from surgery, but refused further evaluation for the pancreatic lesion.ConclusionThere is great emphasis placed on genetic testing in the diagnosis of MEN1, but herein we report a case where it did not assist in diagnosis, hence, further discussion on the role of genetic testing in this disease is needed. Also, in cases of pituitary tumor with cranial nerve palsy, despite its low prevalence, intrasellar cavernous hemangioma

  14. Aging Blepharoplasty

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    Inchang Cho

    2013-09-01

    Full Text Available In performing upper blepharoplasty in the elderly, looking younger and keeping the eyelids harmonious with the rest of the face have to be achieved at the same time. The most important goal in upper blepharoplasty for aging is correcting the drooping upper eyelid skin, and in this process, the surgeon may or may not create a double eyelid fold. The pros and cons have to be fully discussed with the patient, but the author personally prefers creating a double fold unless the patient refuses, because it is efficient in correcting and preventing further drooping of the skin. In most patients, the brow is elevated to compensate for the drooping eyelid, and when the drooping is corrected, brow ptosis may ensue. The surgeon has to prepare for these consequences before performing the procedure, and estimate the exact amount of skin to be excised. In the elderly, the skin and the orbicularis oculi muscle is thin, with a decreased amount of subcutaneous fat and retro-orbicularis oculi fat, and in most cases, excision of the skin alone is enough to correct the deformity. Removing large portions of soft tissue may also prolong the recovery period. Unlike younger patients, the lower skin flap should not be stretched too much in the elderly, as it may create an aggressive looking appearance. A few wrinkles in the lower flap should remain untouched to create a natural look. In this article, the author's own methods of performing an aging blepharoplasty are described specifically, with a step-by-step guide and surgical tips.

  15. Coexistent Autoimmune Autonomic Ganglionopathy and Myasthenia Gravis Associated with Non-Small Cell Lung Cancer

    Science.gov (United States)

    Peltier, Amanda C.; Black, Bonnie K.; Raj, Satish R.; Donofrio, Peter; Robertson, David; Biaggioni, Italo

    2014-01-01

    We report a case of a 55 year old man with non-small cell lung cancer who underwent radiation, chemotherapy with carbotaxol and paclitaxel, and left upper lobe removal two years prior to evaluation. He was referred for disabling orthostatic hypotension (113/69 supine, 66/47 mmHg standing after 10 minutes without a compensatory heart rate increase (57 to 59 bpm), fatigue, and constipation with episodes of ileus. Clinical examination showed mild ptosis bilaterally, fatiguable neck flexor weakness and hip flexor weakness. Blood pressure response to Valsalva maneuver was abnormal with absence of phase 4 overshoot and a Valsalva heart rate ratio of 1.04, The plasma norepinephrine level was low (79 pg/ml supine to 330 pg/ml standing). Single fiber EMG of the right extensor digitorum communis revealed normal mean MCD (jitter) but several pairs exceeded a jitter of 100 µs. Antibodies against muscle acetylcholine receptor [(AChR) 0.66 nmol/L, normal <0.02] and ganglionic AChR (0.34 nmol/L, normal <0.02) were present. Treatment with plasma exchange normalized responses to standing posture (105/68 supine to 118/82 mmHg standing, 66 to 79 bpm), to Valsalva (normal blood pressure overshoot, HR ratio 1.47), norepinephrine (194 pg/ml supine, 763 standing), and jitter measurements. We conclude that autoimmune autonomic ganglionopathy and myasthenia gravis can coexist and suggest that the latter should be excluded in patients with autoimmune autonomic ganglionopathy who complain of fatigue that is improved with non-supine rest. PMID:19882640

  16. Methyl Parathion Masks Withdrawal from Physical Dependence on Morphine

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    Robin W. Rockhold

    2002-10-01

    Full Text Available Abstract: The cholinergic system has been proposed to participate in the development of dependence on opioids. The present study examined effects of dermal pretreatment with methyl parathion (MP, an acetylcholinesterase inhibitor, on the development of physical dependence on morphine. Opioid dependence was induced by continuous intracerebroventricular (i.c.v. infusion of morphine (26 nmol/μl/h for 3 days in adult male Sprague-Dawley rats. Each rat received two doses of MP, 12.5 mg/kg, dermally, initially, 3 days prior to initiation of i.c.v. morphine infusion and again on the first day of infusion. Withdrawal was precipitated after 3 days of infusion by administering an opioid antagonist, naloxone (48 nmol/5 μl, i.c.v.. Twelve of 23 MP-treated rats exhibited signs of acetylcholinesterase inhibitor intoxication (mild tremors and showed reduced spontaneous locomotor activity (tested by an open field test, prior to naloxone. The brain cholinesterase activity in these 12 rats was 13% of levels in control rats. Eleven rats that did not show toxic signs, exhibited cholinesterase activities that were 20% of control (not significant versus toxic group. The group that showed signs of MP intoxication exhibited a significantly lower incidence of opioid withdrawal jumping, rearing and wet dog shakes compared with the non-toxic group. No differences between quantal withdrawal signs (ptosis, penis-licking, and vocalization were noted between the two groups. The results suggest that toxic inhibition of acetylcholinesterase non-specifically reduces locomotor activity and may obscure certain behavioral signs of withdrawal from opioid dependence. This indicates that caution should be used in interpreting a direct involvement of acetylcholinesterase inhibition in preventing opioid dependence.

  17. Vertical diplopia and oscillopsia due to midbrain keyhole aqueduct syndrome associated with severe cough

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    Angela Jinsook Oh

    2018-06-01

    Full Text Available Purpose: Midline structural defects in the neural axis can give rise to neuro-ophthalmic symptoms. We report a rare case of keyhole aqueduct syndrome presenting after two years of severe cough due to gastroesophageal reflux disease. Observations: A 58-year-old woman with a 2-year history of daily, severe cough presented to the neuro-ophthalmology clinic with progressive diplopia and oscillopsia. Examination revealed a 1–2 Hz down-beating nystagmus in primary gaze that worsened with left, right, and down gazes. Gaze evoked nystagmus and mild paresis were also seen with up gaze. There was an incomitant left hypertropia due to skew deviation that worsened with right and up gazes and improved with down gaze. She also had a right-sided ptosis and a 3 mm anisocoria not due to cranial nerve 3 paresis or Horner's syndrome. Brain magnetic resonance imaging showed a 1.5 mm × 11.7 mm × 6 mm midline cleft in the ventral midbrain communicating with the cerebral aqueduct, consistent with keyhole aqueduct syndrome. Her nystagmus and diplopia improved with oral acetazolamide treatment, at high doses of 2500–3000 mg per day. Conclusions and importance: We report the first case of midbrain keyhole aqueduct syndrome with ocular motor and other neuro-ophthalmic manifestations associated with severe cough. Although her cough was effectively treated and intracranial pressure measurement was normal, her ophthalmic symptoms continued to progress, which is common in previous cases reported. Treatment with acetazolamide led to significant improvement, supporting the use of acetazolamide in this rare condition. Keywords: Keyhole aqueduct syndrome, Midbrain cleft, Mesencephalic cleft, Syrinx, Syringobulbia, Down-beating nystagmus, Cerebrospinal fluid

  18. Screening program for Waardenburg syndrome in Colombia: clinical definition and phenotypic variability.

    Science.gov (United States)

    Tamayo, Marta L; Gelvez, Nancy; Rodriguez, Marcela; Florez, Silvia; Varon, Clara; Medina, David; Bernal, Jaime E

    2008-04-15

    A screening program to detect Waardenburg syndrome (WS) conducted between 2002 and 2005, among 1,763 deaf individuals throughout Columbia identified 95 affected individuals belonging to 95 families, giving a frequency of 5.38% of WS among the institutionalized deaf population. We confirmed the clinical diagnosis of WS in the 95 propositi and, through the family evaluation, we also identified 45 non-institutionalized affected relatives. Audiologic, ophthalmologic, and genetic studies were performed to confirm the diagnosis. Following the classification of the WS consortium, based on the Waardenburg Index (WI), to define the type of WS. We classified 62.1% of the propositi as WS2 and 37.9% as WS1. We present here the results of the study of clinical manifestations, analyzing the presence, severity, and symmetry of clinical findings among this affected population. Overall, among the 95 propositi, in addition to sensorineural deafness in all, the most frequent features were broad nasal root (58.9%), a first degree relative affected (37.9%), heterochromia irides (36.8%), skin hypopigmentation (31.6%), white forelock (28.0%), intense blue iris (27.4%), synophrys (12.6%), premature graying (10.5%), ptosis of the eyelids (9.5%), and hypoplasia alae nasi (1.1%). The majority of individuals had normal psychomotor development (87%), while the remaining 13% had developmental delay. Among the latter, 9.4% corresponded to WS2 and 3.6% to WS1. Our data confirm an interesting inter- and intrafamilial variability in the phenotypic manifestations as well as extremely variable expression. Copyright 2008 Wiley-Liss, Inc.

  19. A survey of the effects of Raha® and Berberin medicine in toxic and sub toxic doses compare with Clonidine medicine on reducing symptoms of morphine withdrawal

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    Mohammad.J Khoshnood

    2010-09-01

    Full Text Available Background: Opiate withdrawal refers to the wide range of symptoms that occur after stopping or dramatically reducing opiate drugs after heavy and prolonged use. The aim of the present study was to determine the effects of Raha and Berberin medicine in toxic and sub toxic doses compare with Clonidine medicine on reducing symptoms of morphine withdrawal in Syrian mice.Materials and Method: 140 Syrian mice (weight range 70-90 gr were divided randomly into 2 groups; first group; n1=35(receiving drug =21, control=14 & second group; n2=105 (receiving drug=91, control=14. Animals were treated by injected increasing doses of morphine sulfate for physical dependence. Then withdrawal syndrome was induced by administration of Naloxone. In order to evaluate the effect of Raha Berberin and Clonidine on morphine withdrawal syndrome in Syrian mice and also amount of total alkaloids and Berberin value in the Raha® were measured.Result: Total of average of alkaloid and Berberin value was 120, 5.72 mg, respectively in 5 ml of the Raha®. The rate of alcohol in Raha® was shown by using the USP procedure which was 19.34 percent. Toxic doses of Raha® and Berberin were 4, 40 mg/kg, respectively. Results indicated that, Raha increases significantly the percent of occurrence of ptosis and immobility were compared with control group (distilled water receiver (p=0.016. The occurrence rate of sniffing, grooming and rearing behavior in Raha and Berberin treated groups compared with control group, within 15min period, was not found statistically significant (p=0.089.Conclusion: Based on our study both Raha® and Berberin in any dilution had no effect on reducing signs of opioid withdrawal syndrome. According to the lack of its effect in mice, further studies should be undertaken for prescription of this drug in human

  20. The eye as a window to rare endocrine disorders

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    Rupali Chopra

    2012-01-01

    Full Text Available The human eye, as an organ, can offer critical clues to the diagnosis of various systemic illnesses. Ocular changes are common in various endocrine disorders such as diabetes mellitus and Graves′ disease. However there exist a large number of lesser known endocrine disorders where ocular involvement is significant. Awareness of these associations is the first step in the diagnosis and management of these complex patients. The rare syndromes involving the pituitary hypothalamic axis with significant ocular involvement include Septo-optic dysplasia, Kallman′s syndrome, and Empty Sella syndrome all affecting the optic nerve at the optic chiasa. The syndromes involving the thyroid and parathyroid glands that have ocular manifestations and are rare include Mc Cune Albright syndrome wherein optic nerve decompression may occur due to fibrous dysplasia, primary hyperparathyroidism that may present as red eye due to scleritis and Ascher syndrome wherein ptosis occurs. Allgrove′s syndrome, Cushing′s disease, and Addison′s disease are the rare endocrine syndromes discussed involving the adrenals and eye. Ocular involvement is also seen in gonadal syndromes such as Bardet Biedl, Turner′s, Rothmund′s, and Klinefelter′s syndrome. This review also highlights the ocular manifestation of miscellaneous syndromes such as Werner′s, Cockayne′s, Wolfram′s, Kearns Sayre′s, and Autoimmune polyendocrine syndrome. The knowledge of these relatively uncommon endocrine disorders and their ocular manifestations will help an endocrinologist reach a diagnosis and will alert an ophthalmologist to seek specialty consultation of an endocrinologist when encountered with such cases.

  1. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.

    Directory of Open Access Journals (Sweden)

    Tyler Mark Pierson

    2011-10-01

    Full Text Available We report an early onset spastic ataxia-neuropathy syndrome in two brothers of a consanguineous family characterized clinically by lower extremity spasticity, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy. Whole-exome sequencing identified a homozygous missense mutation (c.1847G>A; p.Y616C in AFG3L2, encoding a subunit of an m-AAA protease. m-AAA proteases reside in the mitochondrial inner membrane and are responsible for removal of damaged or misfolded proteins and proteolytic activation of essential mitochondrial proteins. AFG3L2 forms either a homo-oligomeric isoenzyme or a hetero-oligomeric complex with paraplegin, a homologous protein mutated in hereditary spastic paraplegia type 7 (SPG7. Heterozygous loss-of-function mutations in AFG3L2 cause autosomal-dominant spinocerebellar ataxia type 28 (SCA28, a disorder whose phenotype is strikingly different from that of our patients. As defined in yeast complementation assays, the AFG3L2(Y616C gene product is a hypomorphic variant that exhibited oligomerization defects in yeast as well as in patient fibroblasts. Specifically, the formation of AFG3L2(Y616C complexes was impaired, both with itself and to a greater extent with paraplegin. This produced an early-onset clinical syndrome that combines the severe phenotypes of SPG7 and SCA28, in additional to other "mitochondrial" features such as oculomotor apraxia, extrapyramidal dysfunction, and myoclonic epilepsy. These findings expand the phenotype associated with AFG3L2 mutations and suggest that AFG3L2-related disease should be considered in the differential diagnosis of spastic ataxias.

  2. Delayed manifestation of bilateral scleral thinning after I-BRITE® procedure and review of literature for cosmetic eye-whitening procedures

    Science.gov (United States)

    Moshirfar, Majid; McCaughey, Michael V; Fenzl, Carlton R; Santiago-Caban, Luis; Kramer, Gregory D; Mamalis, Nick

    2015-01-01

    Purpose To report a case of delayed-onset bilateral scleral thinning and calcium deposition following a cosmetic ocular-whitening procedure (I-BRITE®). Methods A 33-year-old male patient with a history of right-sided ptosis repair and left-sided anterior uveitis had previously undergone bilateral I-BRITE treatment for chronic conjunctival hyperemia. Four years after the procedure, the patient was referred to our institution with bilateral scleral thinning and overlying calcific depositions. A literature review was performed through PubMed from 1980 through 2014 using the search terms ‘cosmetic’, ‘ocular’, ‘conjunctivectomy’, ‘regional conjunctivectomy’, ‘I-BRITE’, ‘eye-whitening’, ‘scleritis’, ‘necrotizing scleritis’, ‘anterior uveitis’, ‘mitomycin C’, ‘5-fluorouracil’, and ‘bevacizumab’, along with associated cross-referencing from relevant articles. Results Examination of the patient revealed bilateral necrotizing scleritis within the nasal region of both eyes. Calcified plaques were also present within the areas of scleromalacia, along with epithelial defects demonstrated with fluorescein staining. Although evidence of previous intraocular inflammation was apparent within the left eye, there were no active signs of inflammation evident within either eye on initial presentation. Complication rates reported in the literature include: scleral thinning (1.8%), calcific plaque formation (2.9%), fibrovascular proliferation (13%), diplopia (1.2%), elevation of intraocular pressure (4.2%), and recurrence of conjunctival hyperemia (2.1%). Conclusion Cosmetic ocular whitening procedures have an attendant high complication rate, and have been associated with several adverse postoperative complications, which have in turn generated several reservations regarding the veritable benefit of the procedure. Many postsurgical complications may demonstrate delayed apparition, varying from several months to several years after primary

  3. Delayed manifestation of bilateral scleral thinning after I-BRITE(®) procedure and review of literature for cosmetic eye-whitening procedures.

    Science.gov (United States)

    Moshirfar, Majid; McCaughey, Michael V; Fenzl, Carlton R; Santiago-Caban, Luis; Kramer, Gregory D; Mamalis, Nick

    2015-01-01

    To report a case of delayed-onset bilateral scleral thinning and calcium deposition following a cosmetic ocular-whitening procedure (I-BRITE(®)). A 33-year-old male patient with a history of right-sided ptosis repair and left-sided anterior uveitis had previously undergone bilateral I-BRITE treatment for chronic conjunctival hyperemia. Four years after the procedure, the patient was referred to our institution with bilateral scleral thinning and overlying calcific depositions. A literature review was performed through PubMed from 1980 through 2014 using the search terms 'cosmetic', 'ocular', 'conjunctivectomy', 'regional conjunctivectomy', 'I-BRITE', 'eye-whitening', 'scleritis', 'necrotizing scleritis', 'anterior uveitis', 'mitomycin C', '5-fluorouracil', and 'bevacizumab', along with associated cross-referencing from relevant articles. Examination of the patient revealed bilateral necrotizing scleritis within the nasal region of both eyes. Calcified plaques were also present within the areas of scleromalacia, along with epithelial defects demonstrated with fluorescein staining. Although evidence of previous intraocular inflammation was apparent within the left eye, there were no active signs of inflammation evident within either eye on initial presentation. Complication rates reported in the literature include: scleral thinning (1.8%), calcific plaque formation (2.9%), fibrovascular proliferation (13%), diplopia (1.2%), elevation of intraocular pressure (4.2%), and recurrence of conjunctival hyperemia (2.1%). Cosmetic ocular whitening procedures have an attendant high complication rate, and have been associated with several adverse postoperative complications, which have in turn generated several reservations regarding the veritable benefit of the procedure. Many postsurgical complications may demonstrate delayed apparition, varying from several months to several years after primary surgical intervention as in the case reported here.

  4. Surgical treatment of Chiari malformation complicated with basilar impression

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    Yuan MA

    2011-02-01

    Full Text Available Objective To evaluate the therapeutic effect of small craniotomic posterior fossa decompression combined with occipital-cervical bone graft fusion and internal fixation on Chiari malformation complicated with basilar impression.Methods The clinical data of 16 cases(7 males and 9 females,aged 17 to 65 years,mean 36.4 of Chiari malformation complicated with basilar impression from 2006 to 2010 were retrospectively analyzed.The diagnoses for all the patients were confirmed by radiology.Small craniotomic posterior fossa decompression was performed in all patients,cerebellar tonsils were resected,and then one-stage occipital-cervical bone graft fusion using autogenous iliac bone and internal wiring fixation were performed.Neck support was used for 3 months after surgery.Results Symptoms were significantly improved in all cases after surgical operation.No patient died or infected.Cerebrospinal fluid leakage was found at draining site in one case.Transient pain of scapular and chest was found in one case and disappeared spontaneously.A 6-months follow-up showed that 6 patients were cured,9 improved and 1 unchanged according to Symon and Lavender standard.Postoperative MRI showed the reconstructed cisterna magna was clear in all patients,no cerebellar ptosis was found,and the occipital-cervical graft bone was fused.Conclusion In patients with Chiari malformation complicated with basilar impression,small craniotomic posterior fossa decompression combined with one-stage occipital-cervical bone graft fusion and internal wiring fixation has a clear and definite effect,it can increase the volume of posterior fossa and alleviate the ventral brain stem compression simultaneously,and reconstruct the stability of cranio-cervical junction.

  5. Validity of Forced Eyelid Closure Test: A Novel Clinical Screening Test for Ocular Myasthenia Gravis.

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    Apinyawasisuk, Supanut; Zhou, Xinkai; Tian, Jack J; Garcia, Giancarlo A; Karanjia, Rustum; Sadun, Alfredo A

    2017-09-01

    Forced eyelid closure test (FECT) is a clinical screening test developed from the original Cogan lid twitch (CLT) sign to assist in the diagnosis of ocular myasthenia gravis (OMG), We evaluated the sensitivity and specificity of FECT compared with CLT and benchmarked to standard diagnostic tests. This study was a retrospective chart review of 48 patients using electronic medical records of those that presented with ptosis and/or diplopia at Doheny Eye Institute, University of California, Los Angeles between February 2015 and April 2016. Patients without FECT testing were excluded. FECT and CLT results, and final diagnosis were recorded. To perform FECT, the patient was asked to squeeze his or her eyelids shut for 5-10 seconds then open quickly and fixate in primary position. The excessive upward overshoot of eyelids movement indicated a positive FECT. The test was performed by a neuro-ophthalmologist before establishing the diagnosis. Patients who had equivocal test results and/or inconclusive final diagnosis were excluded. Of the 48 patients studied, 18 patients (37.5%) had positive FECT; 15 of whom had a final diagnosis of OMG (83.3%). Of the 30 patients with negative FECT, 1 had OMG (3.3%). Of the 48 patients, 35 patients also had a documented CLT result (72.9%). CLT was positive in 11 of these 35 patients (31.4%), and 9 of these 11 had OMG (81.8%). Of the 24 patients with negative CLT, 2 of them had OMG (8.3%). Sensitivity and specificity of FECT were 94% and 91% (joint 95% confidence region: sensitivity × specificity = [0.70, 1] × [0.75, 1]). The relative true-positive fraction (rTPF) between FECT and CLT was 1.15; the relative false-positive fraction was 1.31. FECT is a simple clinical screening test with good sensitivity and specificity for OMG.

  6. Neurological, psychiatric, ophthalmological, and endocrine complications in giant male prolactinomas: An observational study in Algerian population

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    Farida Chentli

    2015-01-01

    Full Text Available Introduction: Prolactinomas are less frequent, but more invasive in males. Giant ones (≥4 cm are extremely rare in literature. Their neurological, psychiatric and endocrine complications are life threatening. Our aim was to report the largest mono center series in order to analyze their frequency, their characteristics, and their complications. Subjects and Methods: All patients had clinical examination, hormonal, ophthalmological, and radiological assessment based on computed tomography scan and cerebral magnetic resonance imaging. Positive diagnosis was based on clinical symptoms, high prolactin ± immunohistochemy study. Mixed adenomas were excluded by hormonal exploration and immunohistochemy. For those who received medical treatment only, a reduction in tumor size was considered a supplementary positive point for the diagnosis. Results: Among 154 male prolactinomas seen between 1987 and 2013, we observed 44 giant tumors (28.5%. Median age = 36 years, and 38.3% were under 30. Median tumor height = 53.95 mm (40-130 and median prolactin = 15,715 ng/ml (n < 20. Solid and cystic aspect ± calcifications was observed in 25%. 42 had cavernous sinuses invasion. Other invasions were: Posterior= 65.9%, anterior= 63.6%, temporal= 15.9% and frontal = 9%. For endocrine complications: Hypogonadism = 98.4%, thyrotroph and corticotroph deficits were seen in respectively 34%, and 32%. Posterior pituitary insufficiency was observed in one case. For ophthalmological complications: Optic atrophy = 46%, Ptosis = 6.8%, diplopia/strabismus = 4.5%. Neurological complications were: Memory loss and/or unconsciousness = 18.2%, epilepsy = 15.9%, frontal syndrome = 9% and obstructive hydrocephalus = 6.8%. Conclusion: Giant prolactinomas account for 28% in our population. Severe neurological complications are frequent. But, obstructive hydrocephalus is rare, which argues for a slow progression.

  7. The Halloween Lateral Canthotomy Model

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    Nur-Ain Nadir

    2017-04-01

    Full Text Available Audience: The Halloween Lateral Canthotomy Model” is designed to instruct Emergency Medicine residents PGY 1-4, as well as Emergency Medicine-bound students. Introduction: Although uncommon, retrobulbar hemorrhage associated with facial trauma is a potential cause of permanent vision loss due to orbital compartment syndrome. To prevent vision loss, treatment with lateral canthotomy is time-sensitive and to perform this procedure in an emergent setting requires properly trained practitioners. Objectives: The purpose of the model is to teach residents and students how to perform lateral canthotomy and to achieve competency in their skills. Method: Lateral canthotomy is an important skill to be proficient in for any Emergency Medicine Physician, as it is an uncommon, sight-saving procedure. It is indicated in scenarios of facial trauma that cause a retrobulbar hemorrhage. Patients are at risk for permanent vision loss due to acute orbital compartment syndrome if the procedure is not done expeditiously.1 A less likely cause of retrobulbar hemorrhage is spontaneous hemorrhage due to a bleeding disorder or anticoagulant use.2 The features of retrobulbar hemorrhage include acute loss of visual acuity, relative afferent pupillary defect, proptosis with resistance to retropulsion, increased intraocular pressure, and limited extra ocular movement.3 While the diagnosis is clinical, it can be confirmed by computed tomography (CT and measurement of intraocular pressure.2 When the diagnosis is established, lateral canthotomy and cantholysis should be performed emergently. Cantholysis is contraindicated when a globe rupture is suspected or with an orbital blowout fracture. Potential complications of this procedure include iatrogenic injury to the globe or lateral rectus muscle, damage to the elevator aponeurosis resulting in ptosis, injury to the lacrimal gland and lacrimal artery, bleeding and infection.3 This task trainer uses affordable materials to let

  8. A Limited Submuscular Direct-to-Implant Technique Utilizing AlloMax

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    Michal Brichacek, MD

    2017-07-01

    Full Text Available Background:. This study evaluates a novel limited submuscular direct-to-implant technique utilizing AlloMax where only the upper few centimeters of the implant is covered by the pectoralis, whereas the majority of the implant including the middle and lower poles are covered by acellular dermal matrix. Methods:. The pectoralis muscle is released off its inferior and inferior-medial origins and allowed to retract superiorly. Two sheets of AlloMax (6 × 16 cm are sutured together and secured to the inframammary fold, serratus fascia, and the superiorly retracted pectoralis. Thirty-seven breasts in 19 consecutive patients with follow-up at 6 months were reviewed. Results:. Nineteen consecutive patients with 37 reconstructed breasts were studied. Average age was 50 years, average BMI was 24.3. Ptosis ranged from grade 0–III, and average cup size was B (range, A–DDD. Early minor complications included 1 seroma, 3 minor postoperative hematomas managed conservatively, and 3 minor wound healing problems. Three breasts experienced mastectomy skin flap necrosis and were managed with local excision. There were no cases of postoperative infection, red breast, grade III/IV capsular contractures, or implant loss. A single patient complained of animation postoperatively. One patient desired fat grafting for rippling. Conclusions:. The limited submuscular direct-to-implant technique utilizing AlloMax appears to be safe with a low complication rate at 6 months. This technique minimizes the action of the pectoralis on the implant, reducing animation deformities but still providing muscle coverage of the upper limit of the implant. Visible rippling is reduced, and a vascularized bed remains for fat grafting of the upper pole if required.

  9. Hematoma tegmento-mesencefálico espontâneo: aspectos neurocomportamentais do terço rostral do tronco encefálico humano Spontaneous tegmento-mesencephalic hematoma: neurobehavioral insights concerning the rostral human brainstem

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    Ricardo de Oliveira-Souza

    1995-12-01

    Full Text Available O tegmento do mesencéfalo é área complexa, dada a quantidade de fibras que o atravessam, provenientes de circuitos locais, de sistemas ativadores ascendentes e de feixes descendentes dos hemisférios cerebrais. No presente artigo, relatamos o caso de um senhor de 67 anos, que sofreu hemorragia mesencefálica de localização tegmental, vindo a falecer 1 mês depois. Inicialmente, foi julgado em coma, por apresentar ptose bilateral, ausência de fala e de movimentos espontâneos. Por volta da segunda semana, descobriu-se que podia cumprir comandos verbais, sentar, sustentar-se de pé e andar. O caso demonstra o quanto o diagnóstico do coma em bases clínicas pode ser enganoso em pacientes como esse, no qual a aparente irresponsividade de olhos fechados se deve à combinação inesperada de abulia e oftalmoplegia.The tegmentum of the midbrain is a complex area traversed by a number of anatomical and functional systems, including local circuits, ascending activating systems and descending fibers from the cerebral hemispheres. In the present paper we report on the case of a 67-year-old man who suffered a spontaneous central tegmental hemorrhage and was initially supposed to be in coma due to bilateral ptosis and lack of speech and initiative. By the second hospital week, however, he was shown to be able to respond to verbal commands, sit, stand and walk. He died in sepsis one month later. This case shows that the clinical diagnosis of coma may be misleading in certain patients in whom wakefulness is preserved, though concealed from a casual bedside examination due to abulia and ophthalmoplegia.

  10. Demyelinating Disease following Anti-TNFa Treatment: A Causal or Coincidental Association? Report of Four Cases and Review of the Literature

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    E. Andreadou

    2013-01-01

    Full Text Available Tumor necrosis factor antagonists (anti-TNFa are an established therapeutic option for several autoimmune and inflammatory bowel diseases. Despite their clinical effectiveness, neurological adverse events have been reported and literature data suggest a potential role of anti-TNFa in the induction of demyelination of the CNS. We present four patients treated with anti-TNFa who developed symptoms suggestive of CNS demyelination. The first patient, a 17-year-old male who received etanercept for psoriatic arthritis for eight months, presented with dysesthesias up to T4 level. The second patient, a 30-year-old male treated with adalimumab for three years due to ankylosing spondylitis, presented with right unilateral tinnitus. The third case, a 47-year-old female, received etanercept for four years because of psoriatic arthritis and developed persistent headache and left-sided face and head numbness. Finally, the fourth patient, a 57-years-old female treated with etanercept for six years due to ankylosing spondylitis, presented with difficulty in speech, swallowing, and ptosis of the right corner of the mouth. In all cases, brain MRI showed lesions suggestive of demyelination, while positive oligoclonal bands were detected in the CSF. Anti-TNFa treatments were discontinued and patients showed clinical improvement with pulsed intravenous corticosteroid therapy. CNS demyelination following anti-TNFa treatment represents a relatively rare but potential serious complication. Close follow-up and MRI monitoring of these patients is mandatory to elucidate whether the clinical manifestations represent adverse events occurring during anti-TNFa therapy or a first demyelinating episode.

  11. Ação neuro-muscular do veneno crotálico: dados preliminares Neuromuscular action of crotalid venom: preliminar data

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    Maria Dorvalina Silva

    1996-03-01

    Full Text Available Estudamos 6 pacientes, 2 cães e um coelho com intoxicação crotálica. Avaliamos a condução nervosa periférica sensitiva e motora, a transmissão neuromuscular e eletromiografias. As biópsias de músculo foram processadas por histoquímica. Os 6 pacientes apresentaram mononeuropatia sensitiva no nervo periférico adjacente ao local da inoculação do veneno e encontramos evidências histoquímicas de miopatia mitocondrial. Os defeitos da transmissão neuromuscular foram mínimos. A maioria dos autores admite que veneno crotálico determina síndrome miastênica. Nossos achados indicam que ptose palpebral, facies miastênico e fraqueza muscular observados após acidente crotálico, correspondem provavelmente a miopatia mitocondrial, muitas vezes transitória e reversível.We studied 6 patients and 2 dogs that have been bitten by South American rattlesnake Crotalus durissus terrificus and one rabbit inoculated with crotalid venom. We analized sensory and motor peripheral nerve conduction, repetitive stimulation for studying neuromuscular transmission and electromyographies. Muscle biopsies were processed by histochemistry. All patients had peripheral mononeuropathy of the closest sensitive nerve to the area of snakebite. The neuromuscular transmission alterations were minimal. Muscle histochemistry of 4 patients, 2 dogs and 1 rabbit showed findings of mitochondrial myopathy. The majority of authors admit that crotalid venom causes myastenic syndrome. Our findings suggest that palpebral ptosis, myastenic facies and muscular weakness observed after crotalid poisoning are, probably, due to transient and reversible mitochondrial myopathy. As far as we know, this is the first report on the ability of the venom of this rattlesnake to cause local sensitive mononeuropathy and the first muscle histochemistry showing mitochondrial myopathy in humans poisoned by crotalid venom.

  12. Aneurisma gigante do segmento intracavernoso da carótida interna associado a doença renal policística autossômica dominante: relato de caso Giant aneurysm of the intracavernous internal carotid artery associated with autosomal dominant polycystic kidney disease: case report

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    Keven F. Ponte

    2006-09-01

    Full Text Available Apresenta-se o caso de mulher de 60 anos com doença renal policística autossômica dominante (DRPAD que desenvolveu quadro de cefaléia e oftalmoplegia completa à direita. A TC levantou a hipótese de um aneurisma gigante do segmento intracavernoso da carótida interna direita, o que foi confirmado pela arteriografia. Realizou-se, então, tratamento endovascular por oclusão do vaso parental com molas destacáveis no segmento supraclinóideo. A paciente evoluiu com a interrupção da cefaléia e com redução parcial da ptose e da oftalmoplegia. Neste artigo, enfatiza-se a relação entre DRPAD e aneurismas intracranianos. Comenta-se a história natural dos aneurismas originados no segmento intracavernoso da artéria carótida interna e comparam-se as opções terapêuticas no manejo destas lesões.We report the case of a 60 years-old woman with autosomal dominant polycystic kidney disease (ADPKD that presented with headache and right complete ophthalmoplegia. The CT scan raised the possibility of a giant aneurysm of the right intracavernous internal carotid artery, confirmed by angiography. The patient underwent endovascular occlusion of parent vessel with detachable coils, then she presented interruption of headache and partial recovery of ptosis and ophthalmoplegia. We emphasize the relationship between ADPKD and intracranial aneurysms. We also discuss the natural history and compare the therapeutic options for the management of giant aneurysms of the cavernous portion of the carotid artery.

  13. Síndrome do ápice orbital associado com herpes zoster oftálmico em paciente HIV positivo: relato de caso Orbital apex syndrome and herpes zoster ophthalmicus in an HIV positive patient: case report

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    João Baptista Nigro Santiago Malta

    2004-12-01

    Full Text Available O presente relato tem como objetivo apresentar um caso raro de síndrome do ápice orbital associado com herpes zoster oftálmico de prognóstico reservado em paciente HIV positivo que procurou o pronto-socorro com quadro clínico de lesões crostosas em hemiface esquerda, dolorosa, acompanhado de baixa acuidade visual, diminuição da sensibilidade corneal e oftalmoplegia completa do olho esquerdo. A síndrome do ápice orbital é entidade rara que se caracteriza por ptose, proptose, oftalmoplegia interna e externa (acometimento do II, III, IV e VI nervos cranianos, prejuízo funcional da primeira divisão do nervo trigêmeo (nervo oftálmico e graus variados de diminuição da acuidade visual. O tratamento do herpes zoster oftálmico baseia-se no uso de antivirais sistêmicos, sendo que o prognóstico irá variar conforme o acometimento ocular.To present a rare case of orbital apex syndrome associated with herpes zoster ophthalmicus of unfavorable prognosis in an HIV positive patient, who arrived at the Emergency Room with the following clinical history: left facial crust lesions, low visual acuity, ocular pain, low corneal sensitivity and complete ophthalmoplegia of the left eye. The orbital apex syndrome is a rare disorder which is characterized by ptosis, proptosis, internal and external ophthalmoplegia (involvement of the second, third, fourth and sixth cranial nerves, damage to the first division of the trigeminal (ophthalmic nerve, and varied degrees of visual acuity loss. The treatment of herpes zoster ophthalmicus is based on the use of systemic antiviral drugs and the prognosis will depend on ocular damage.

  14. Volumetric Mammogram Assessment: A Helpful Tool in the Treatment of Breast Asymmetries.

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    Zimman, Oscar A; Butto, Carlos D; Rostagno, Román; Rostagno, Camila

    2017-12-01

    The surgical approach to breast asymmetry depends on several factors, including the surgeon's experience, the anatomy of the patient, and several methods that may help to choose a technique and define the size of the implant or the amount of breast tissue to be excised. The aim of this study is to assist in evaluation of breast volumes with the Quantra™ software application, intended for use with Hologic™ digital mammography systems. Twenty-eight women were studied with full-field digital mammography (FFDM) with the Quantra™ software application, for use with Hologic™ digital mammography systems preoperatively. The case diagnoses were as follows: breast hypertrophy, ptosis, hypoplasia, and reconstruction, and the surgeries included breast reduction, mastopexy, mastopexy and breast reduction, mastoplasty and breast augmentation, breast augmentation, and immediate or delayed breast reconstruction. Patients were evaluated from 6 to 18 months after surgery. Volumetric mammogram studies help to decide the amount of tissue to be excised, the size of the implants, and the combination of both. The results of this study were evaluated by surgeons and patients and found to be highly satisfactory. The use of full-field digital mammography with adequate software should be considered as another tool to assist in making decisions regarding the correction of breast asymmetries. Level of Evidence IV This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

  15. Vertical diplopia and oscillopsia due to midbrain keyhole aqueduct syndrome associated with severe cough.

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    Oh, Angela Jinsook; Lanzman, Bryan Alexander; Liao, Yaping Joyce

    2018-06-01

    Midline structural defects in the neural axis can give rise to neuro-ophthalmic symptoms. We report a rare case of keyhole aqueduct syndrome presenting after two years of severe cough due to gastroesophageal reflux disease. A 58-year-old woman with a 2-year history of daily, severe cough presented to the neuro-ophthalmology clinic with progressive diplopia and oscillopsia. Examination revealed a 1-2 Hz down-beating nystagmus in primary gaze that worsened with left, right, and down gazes. Gaze evoked nystagmus and mild paresis were also seen with up gaze. There was an incomitant left hypertropia due to skew deviation that worsened with right and up gazes and improved with down gaze. She also had a right-sided ptosis and a 3 mm anisocoria not due to cranial nerve 3 paresis or Horner's syndrome. Brain magnetic resonance imaging showed a 1.5 mm × 11.7 mm × 6 mm midline cleft in the ventral midbrain communicating with the cerebral aqueduct, consistent with keyhole aqueduct syndrome. Her nystagmus and diplopia improved with oral acetazolamide treatment, at high doses of 2500-3000 mg per day. We report the first case of midbrain keyhole aqueduct syndrome with ocular motor and other neuro-ophthalmic manifestations associated with severe cough. Although her cough was effectively treated and intracranial pressure measurement was normal, her ophthalmic symptoms continued to progress, which is common in previous cases reported. Treatment with acetazolamide led to significant improvement, supporting the use of acetazolamide in this rare condition.

  16. A patient with diplopia and upper eyelid edema: a case report

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    Igor Šivec Trampuž

    2017-11-01

    Full Text Available Idiopathic orbital inflammatory disease, previously referred to as orbital pseudotumor, is a nonneoplastic, non-infective disease. The inflammatory process can involve one or more orbital sof tissues; extraocular muscles, tear gland, scleralorepiscleral tissue or orbital fat. Orbital myositis typically presents itself with a sudden onset of restricted ocular motility, diplopia, congestive proptosis, eyelid ptosis, periocular swelling and conjunctival hyperemia. A thorough workup is essential for ruling out other entities. This report presents a case of a 47-year old man with a sudden onset of right upper eyelid swelling and diplopia. Until then he had no health problems. Afer initial ophthalmologic workup and ultrasound an orbital mass was suspected. Te MRI and a biopsy of the mass confirmed an isolated superior oblique muscle myositis. We treated him with systemic steroids. A good response and fast regression were observed. In two years of follow-up visits no recurrence was noted. Isolated superior oblique muscle myositis is extremely rare. This is one of eleven cases documented between 1988 and 2015.   This case report presents a 47-year old man with a sudden onset of right upper eyelid swelling and diplopia. Until then he had no health problems. After initial ophthalmologic workup and ultrasound an orbital mass was suspected. The MRI and a biopsy of the mass confirmed an isolated superior oblique muscle myositis. We treated him with systemic steroids. A good response and fast regression was observed. In two years of follow-up visits no recurrence was noted. Isolated superior oblique muscle myositis is extremely rare. This is one of eleven documented cases between 1988 and 2015.

  17. Chronic Granulomatous Tolosa-Hunt Syndrome (Case Report

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    Dewa Purwa Samatra

    2016-04-01

    Full Text Available Background: Tolosa-Hunt syndrome is a rare case, characterized by tenderness, persistent around the affected eye and ophthalmoplegia /paresis caused by granulomatous inflammation in the cavernous sinus region, supra orbital or orbital fissure. Although spontaneous remission may occur, even corticosteroid therapy has a very satisfactory effect. However, relapse can occur after remission. We report a case of granulomatous Tolosa-Hunt syndrome in women aged 47 years who suffer from recurrent Tolosa-Hunt syndrome attacks for 4 years on his left eye, there was a significant recovery after receiving steroid therapy. Case:  We report A 47 years old with recurrent pain in the left eye since 4 years, pain episode duration of 1-2 weeks, accompanied by double vision when having long or short distance viewing, and when climbing stairs. The patient left eye was protruded with blurred vision and difficulty in distinguishing green color. Left eye examination vision 1/300, green color discromatopsia, normal funduscopic, ptosis, with paresis eye movement toward the superior, inferior, nasal and temporal. C-reactive protein and erythrocyte sedimentation rate were slightly elevated. ANA test was positive. In visual evoked potential, it showed latency elongation of the left face. Head MRI with contrast showed a isointense protrusion on the left cavernous sinus in axial cuts in T1 and T2. Head MRI T1 with contrast on coronal, axial cuts showed the appearance of convex lesions around the left cavernous sinus that enhanced with contrast. Conclusions: The result was clinically and radiographically diagnosed as Tolosa-Hunt Syndrome (THS. Therefore, 10 mg dexamethasone therapy, 4 times a day for 3 days was lowered to three times on day 4, 2 times on the fifth day and one time at day 6. The patient showed clinical improvement. The patient continued 48 mg oral methylprednisolone therapy up to 3 weeks which then gradually decreased and planned head MRI 3 months later.

  18. Effects of intravenously administered yohimbine on antinociceptive, cardiorespiratory, and postural changes induced by epidural administration of detomidine hydrochloride solution to healthy mares.

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    Skarda, R T; Muir, W W

    1999-10-01

    To determine effects of i.v. administered yohimbine on perineal analgesia, cardiovascular and respiratory activity, and head and pelvic limb position in healthy mares following epidural administration of detomidine hydrochloride solution. 8 healthy mares. Each mare received detomidine hydrochloride (0.06 mg/kg of body weight), administered in the caudal epidural space, followed 61 minutes later by yohimbine (0.05 mg/kg; test) or sterile saline (0.9% NaCl) solution (control), administered i.v., in a randomized, crossover study design with > or = 2 weeks between treatments. Analgesia was determined by lack of sensory perception to electrical stimulation of perineal dermatomes and needle-prick stimulation of coccygeal to 15th thoracic dermatomes. Arterial pH, PaCO2, PaO2, heart and respiratory rates, rectal temperature, arterial blood pressure, and cardiac output were determined, and mares were observed for sweating and urination. Mean scores obtained for test and control groups were compared. Intravenously administered yohimbine significantly reduced mean scores of detomidine-induced perineal analgesia, head ptosis, changes in pelvic limb position, and sweating and diuresis; antagonized detomidine-induced decreases in heart rate and cardiac output; but did not affect detomidine-induced decrease in respiratory rate. Most effects of epidurally administered detomidine, except bradypnea, were antagonized by yohimbine, suggesting that detomidine may influence respiratory rate by mechanisms other than stimulation of alpha2-adrenoceptors, or that yohimbine induces respiratory depressant effects. Yohimbine may be an effective alpha2-adrenoceptor antagonist for all but respiratory depression following epidural administration of detomidine to mares.

  19. Evaluation of skin firmness by the DynaSKIN, a novel non-contact compression device, and its use in revealing the efficacy of a skincare regimen featuring a novel anti-ageing ingredient, acetyl aspartic acid.

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    Kearney, E M; Messaraa, C; Grennan, G; Koeller, G; Mavon, A; Merinville, E

    2017-05-01

    One of the key strategies for anti-ageing in the cosmetics industry today is to target the structural changes responsible for ptosis of the skin, given its impact on age perception. Several objective and non-invasive methods are available to characterise the biomechanical properties of the skin, which are operator-dependent, involving skin contact and providing single-dimensional numerical descriptions of skin behaviour. The research introduces the DynaSKIN, a device using non-contact mechanical pressure in combination with fringe projection to quantify and visualise the skin response in 3-dimensions. We examine the age correlation of the measurements, how they compare with the Cutometer ® , and measure skin dynamics following application of a skincare regimen containing established anti-ageing ingredients. DynaSKIN and Cutometer ® measurements were made on the cheek of 80 Caucasian women (18-64 years). DynaSKIN volume, mean depth and maximum depth parameters were correlated with age and 15 Cutometer ® parameters. Subsequently, the firming efficacy of a skincare regimen featuring acetyl aspartic acid (AAA) and a peptide complex was examined in a cohort of 41 volunteers. DynaSKIN volume, mean depth and maximum depth parameters correlate with age and the Cutometer ® parameters that are associated with the skin relaxation phase (R1, R2, R4, R5, R7 and F3). Furthermore, the DynaSKIN captured significant improvements in skin firmness delivered by the skincare regimen. The DynaSKIN is a novel device capable of capturing skin biomechanics at a high level of specificity and successfully detected the firming properties of a skincare regimen. Its independent measuring principle, consumer relevance and skin firmness 3D visualisation capabilities bring objectivity and novelty to product efficacy substantiation evaluation. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  20. Epistaxis and pituitary apoplexy due to ruptured internal carotid artery aneurysm embedded within pituitary adenoma.

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    Peng, Zesheng; Tian, Daofeng; Wang, Hongliu; Kong, Derek Kai; Zhang, Shenqi; Liu, Baohui; Deng, Gang; Xu, Zhou; Wu, Liquan; Ji, Baowei; Wang, Long; Cai, Qiang; Li, Mingchang; Wang, Junmin; Zhang, Aimin; Chen, Qianxue

    2015-01-01

    Epistaxis due to ruptured internal carotid artery (ICA) aneurysm embedded within a pituitary adenoma (PA) has seldom been reported in the literature. Here we want to elaborate the incidence, mechanisms, clinical manifestations, and treatment strategy for this condition. The first survived case of a patient with epistaxis and pituitary apoplexy due to ruptured aneurysm embedded within PA was reported and the literature was reviewed. A 53-year-old male patient presented to our institution with sudden onset epistaxis and progressive vision loss. Neurological examination revealed bilateral ptosis and dilated unresponsive pupils. A CT scan showed a large mass in the pituitary fossa with bony erosion. MRI revealed a large pituitary tumor and abnormal signal intensity in the tumor. No aneurysm was noted during the pre-operative MR angiography. Abundant arterial bleeding suddenly occurred during urgent transsphenoidal surgery. Digital subtraction angiography confirmed the presence of a 14 mm unexpected saccular aneurysm of right ICA in the cavernous sinus with the dome protruding into the sella turcica. Balloon test occlusion of the right ICA was undertaken and permanent occlusion was performed. The patient recovered well and received bromocriptine and thyroid hormone replacement therapy during the follow-up period. At 14-month followup, the patient had no neurological deficits, no features of ischaemia relating to the right ICA therapeutic occlusion. Our case indicated that epistaxis and pituitary apoplexy could be due to the rupture of an ICA aneurysm embedded in a PA. Clinical suspicion should remain high when evaluating any case of epistaxis and pituitary apoplexy. Optimal treatment should take into consideration individual features of the tumor, aneurysm, and patient. Making the correct diagnosis as well as identifying an appropriate management strategy is critical in the care of such patients.

  1. Intraoperative high-dose-rate brachytherapy for the treatment of pediatric tumors: the Ohio State University experience

    International Nuclear Information System (INIS)

    Nag, Subir; Tippin, Douglas; Ruymann, Frederick B.

    2001-01-01

    Purpose: To determine whether intraoperative high-dose-rate brachytherapy (IO-HDRBT) can be used to decrease the dose of external beam radiotherapy (EBRT) in the treatment of children with soft-tissue sarcomas and, thereby, reduce morbidity without compromising local control. Methods and Materials: From March 1992 through April 1999, 13 pediatric patients were treated with IO-HDRBT, low-dose EBRT, chemotherapy, and radical surgery at 21 sites that were not amenable to intraoperative electron beam therapy. The IO-HDRBT dose at 5 mm depth was 10 to 12.5 Gy for close margins/microscopic disease at 14 sites and 12.5 to 15 Gy for gross disease at 7 sites. The treatment volumes ranged from 4 to 96 cm 3 (mean 27). The EBRT dose was limited to 27-30 Gy in most cases to minimize growth retardation and preserve normal organ function. Results: After a median follow-up of 47 months (range 12-97), 11 patients were alive and without evidence of disease (overall survival rate 85%, 4-year actuarial survival rate 77%). Of the 2 who died, 1 had Stage III pulmonary blastoma with a sacral recurrence; the other had Stage IV undifferentiated synovial sarcoma with a pulmonary recurrence. One local failure occurred in a patient with gross residual disease after incomplete resection for Stage IV pulmonary blastoma. The local control rate was 95%, and morbidity was observed in 3 patients (23%). One patient developed impaired orbital growth with mild ptosis. Another patient required orthopedic pinning of her femoral subcapital epiphysis and construction of a neobladder secondary to urethral obstruction. The third patient required reimplantation of her autotransplanted kidney secondary to chronic urinary tract infection and ureteral reflux. Conclusions: IO-HDRBT allowed for reduction in EBRT without compromising local control or disease-free survival in children with soft-tissue sarcomas. Tumor beds inaccessible to electron beam methods could be satisfactorily encompassed with IO

  2. Early diagnosis of Werner’s syndrome using exome-wide sequencing in a single, atypical patient

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    Eleanor eRaffan

    2011-03-01

    Full Text Available Genetic diagnosis of inherited metabolic disease is conventionally achieved through syndrome recognition and targeted gene sequencing, but many patients receive no specific diagnosis. Next generation sequencing allied to capture of expressed sequences from genomic DNA now offers a powerful new diagnostic approach. Barriers to routine diagnostic use include cost, and the complexity of interpreting results arising from simultaneous identification of large numbers of variants. We applied exome-wide sequencing to an individual, 16 year old daughter of consanguineous parents with a novel syndrome of short stature, severe insulin resistance, ptosis and microcephaly. Pulldown of expressed sequences from genomic DNA followed by massively parallel sequencing was undertaken. Single nucleotide variants (SNVs were called using SAMtools prior to filtering based on sequence quality and existence in control genomes and exomes. Of 485 genetic variants predicted to alter protein sequence and absent from control data, 24 were homozygous in the patient. One mutation – the p.Arg732X mutation in the WRN gene – has previously been reported in Werner’s syndrome (WS. On re-evaluation of the patient several early features of WS were detected including loss of fat from the extremities and frontal hair thinning. Lymphoblastoid cells from the proband exhibited a defective decatenation checkpoint, consistent with loss of WRN activity. We have thus diagnosed WS some 15 years earlier than average, permitting aggressive prophylactic therapy and screening for WS complications, illustrating the potential of exome-wide sequencing to achieve early diagnosis and change management of rare autosomal recessive disease, even in individual patients of consanguineous parentage with apparently novel syndromes.

  3. Frontalis muscle flap suspension for the correction of congenital blepharoptosis in early age children.

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    Dianju Hou

    Full Text Available BACKGROUND: We aimed to report our successful use of frontalis muscle flap suspension for the correction of congenital blepharoptosis in early age children. METHODS: This retrospective study included 61 early age children (41 boys, 20 girls with an average age of 6 years (range, 3-10 years with congenital blepharoptosis who received surgery during the period from March 2007 to January 2011. There were 39 cases of unilateral blepharoptosis and 22 cases of bilateral blepharoptosis, thus a total of 83 eyes were affected. If patient had bilateral blepharoptosis, both eyes were operated on in the same surgery. Patients were followed for 3 months to 5 years. The procedure was performed without complications in all cases. RESULTS: The postoperative healing grade was good in 81 eyes (97.6%; the correction of blepharoptosis was satisfactory, the double eyelid folds were natural and aesthetic, the eyelid position and the curvature were ideal, and the eyes were bilaterally symmetrical. The postoperative healing grade was fair in 2 eyes (2.4%; blepharoptosis was improved compared with that before surgery. At discharge, lagophthalmos was noted in 10 eyes of which 4 cases resolved by the last follow-up. The remaining 6 cases were mild. Eleven eyes received reoperation for residual ptosis after the first surgery. The curvature of the palpebral margin was not natural in 4 eyes. These unnatural curvature possibly was caused by an excessively low lateral fixation point or postoperative avulsion. CONCLUSION: Frontalis muscle flap suspension under general anesthesia for the correction of congenital blepharoptosis in early age children can achieve good surgical results.

  4. CT-Guided, Ethanol Sympatholysis for Primary Axillary–Palmar Hyperhidrosis

    Energy Technology Data Exchange (ETDEWEB)

    Tsitskari, Maria, E-mail: mariadote@hotmail.com [American Medical Center, Vascular & Interventional Radiology (Cyprus); Friehs, Gerhard, E-mail: gerhardf@amc.com.cy; Zerris, Vassilis, E-mail: vassilisz@amc.com.cy [American Medical Center, Neurosurgery (Cyprus); Georgiades, Christos, E-mail: g-christos@hotmail.com [Johns Hopkins Hospital, Vascular & Interventional Radiology (United States)

    2016-12-15

    PurposePrimary hyperhidrosis is an excessive sweating due to an overactive sympathetic system. Our objective was to test the feasibility and provide early data on the safety/efficacy of CT-guided sympatholysis, for primary hyperhidrosis.Materials and MethodsNine consecutive patients with axillary–palmar hyperhidrosis were treated between 2013 and 2015. CT-guided sympathetic block was performed in the outpatients at T-2, T-3, and T-4, bilaterally using alcohol under local anesthesia. Immediate postprocedure CT was obtained to assess the complications as per Common Terminology Criteria for Adverse Events, version 4. Technical success and clinical success were recorded. Primary and secondary efficacy were assessed by phone and clinical visits; mean follow-up was 12 months (6–26 months). Descriptive statistics was used to report the outcomes.ResultsOne procedure was aborted due to eyelid ptosis after lidocaine injection. All other eight patients (5:3, F:M) (median age 32) had immediate cessation of sweating. Two major complications (pneumothorax, one requiring a chest tube) occurred. Two patients recurred with unilateral and one with bilateral symptoms. One of the unilateral recurrence and the bilateral recurrence patients was retreated successfully. Median follow-up was 1 year. No cases of Horner’s or compensatory hyperhidrosis were observed.ConclusionsCT-guided EtOH sympatholysis for axillary/palmar primary hyperhidrosis is feasible. Technical failure rate was 11 %. Primary and secondary efficacy are 75 and 94 %, respectively, to a median follow-up of 1 year. Risk profile appears favorable. Despite a small sample size, results confirm feasibility and encourage a larger study.

  5. Oncoplastic round block technique has comparable operative parameters as standard wide local excision: a matched case-control study.

    Science.gov (United States)

    Lim, Geok-Hoon; Allen, John Carson; Ng, Ruey Pyng

    2017-08-01

    Although oncoplastic breast surgery is used to resect larger tumors with lower re-excision rates compared to standard wide local excision (sWLE), criticisms of oncoplastic surgery include a longer-albeit, well concealed-scar, longer operating time and hospital stay, and increased risk of complications. Round block technique has been reported to be very suitable for patients with relatively smaller breasts and minimal ptosis. We aim to determine if round block technique will result in operative parameters comparable with sWLE. Breast cancer patients who underwent a round block procedure from 1st May 2014 to 31st January 2016 were included in the study. These patients were then matched for the type of axillary procedure, on a one to one basis, with breast cancer patients who had undergone sWLE from 1st August 2011 to 31st January 2016. The operative parameters between the 2 groups were compared. 22 patients were included in the study. Patient demographics and histologic parameters were similar in the 2 groups. No complications were reported in either group. The mean operating time was 122 and 114 minutes in the round block and sWLE groups, respectively (P=0.64). Length of stay was similar in the 2 groups (P=0.11). Round block patients had better cosmesis and lower re-excision rates. A higher rate of recurrence was observed in the sWLE group. The round block technique has comparable operative parameters to sWLE with no evidence of increased complications. Lower re-excision rate and better cosmesis were observed in the round block patients suggesting that the round block technique is not only comparable in general, but may have advantages to sWLE in selected cases.

  6. Nonallergic Eyelid Edema After Botulinum Toxin Type A Injection: Case Report and Review of Literature.

    Science.gov (United States)

    Chang, Yin-Shuo; Chang, Chang-Cheng; Shen, Jen-Hsiang; Chen, Yu-Tsung; Chan, Karen Kar-Wun

    2015-09-01

    Periocular botulinum toxin type A (BoNTA) injections are generally safe. Ptosis is the most common adverse effect, whereas eyelid edema is rarely reported. There is no consensus on the latter's incidence, clinical course, or treatment strategy. Here we managed a 59-year-old woman who received BoNTA injections to her forehead, glabella, and eye corner. At 3-day follow-up, she presented with painless, nonpruritic, bilateral periorbital edema, and erythema. Preliminary diagnosis was a local allergic reaction, and topical corticosteroid was administered, but upon lack of improvement, edema secondary to venous and lymphatic congestion was hypothesized, and she was advised to apply hot pads over her eyes, blink frequently, and massage the area. Her eyelid edema resolved 2 weeks later. At 4-month follow-up, the patient requested and received another course of BoNTA at half the dose. Frequent blinking was instructed, and the patient reported a satisfactory outcome with no adverse effects. In our literature review, incidence of BoNTA-induced eyelid edema was 1.4% and showed Asian tendency. Although rare, BoNTA-induced periorbital edema is self-limiting, and normally resolves in 2 to 4 weeks without medical treatment. Patients at risk for edema, including Asian ethnicity, dermatochalasis, and poor periocular muscle tone, are advised to receive injections at half the dosage. Examination of the function and tone of the orbicularis oculi and levator palpebrae superioris muscles before treatment is recommended, and application of hot pads over the eyes, frequent blinking in the morning, and self-massage of the affected area to increase venous return have demonstrated to improve outcome.

  7. Cluster headache as a first manifestation of multiple sclerosis: case report and literature review

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    Mijajlović MD

    2014-11-01

    Full Text Available Milija D Mijajlović,* Vuk M Aleksić,* Nadežda M Čovičković Šternić Department for Cerebrovascular Disorders and Headaches, Neurology Clinic, Clinical Center of Serbia, School of Medicine, University of Belgrade, Belgrade, Serbia *These authors contributed equally to this work Abstract: Cluster headache (CH is estimated to be the most common primary trigeminal autonomic headache, although it is a rare disabling medical condition. Dominant symptoms of CH include severe unilateral orbital, supraorbital, and/or temporal pain, lasting from 15 to 180 minutes if untreated, associated with at least one of various autonomic symptoms during the headache, such as conjunctival injection, lacrimation, nasal congestion and rhinorrhea, facial sweating, miosis, ptosis, and eyelid edema. Headache is not frequently a symptom of multiple sclerosis (MS. The most commonly reported primary headaches are migraine without aura and a tension-type headache. Several described cases involved complicated migraine, ophthalmoplegic migraine-like headache, and finally cluster-like headache. We present a case of a 45-year-old male patient who had typical CH attacks as the initial and only clinical manifestation of MS, which was diagnosed after cerebrospinal fluid (CSF isoelectric focusing and brain magnetic resonance imaging (MRI investigation. He presented as a typical cluster-like headache patient since in the background of the CH symptoms and signs, were MS demyelinating lesions. In a patient with CH symptoms one should always think about the possibility of cluster-like-headache, which presents the CH patient with different underlying diseases, so we proposed a protocol to evaluate such patients and exclude diseases that could be in the background of CH symptoms. Keywords: demyelinating disease, headache, trigeminal autonomic cephalalgia, diagnosis

  8. Evaluation of a novel breast reconstruction technique using the Braxon® acellular dermal matrix: a new muscle-sparing breast reconstruction.

    Science.gov (United States)

    Berna, Giorgio; Cawthorn, Simon J; Papaccio, Guido; Balestrieri, Nicola

    2017-06-01

    Implant-based breast reconstruction is becoming increasingly popular because of the widespread adoption of acellular dermal matrix (ADM), which allows surgeons to obtain good aesthetic results with fewer operations. To develop more conservative surgical techniques, a retrospective, three-centre, proof-of-concept study was performed to study the effectiveness of a new, immediate, muscle-sparing breast reconstruction technique using the patented Braxon ® ADM, which enables subcutaneous positioning of the breast implant without detaching the pectoralis major. Ethics committee of the study coordinating centre approved medical record review on 19 women who underwent muscle-sparing breast reconstruction between November 2012 and January 2014. The first 10 implants were performed using 0.9-mm-thick porcine ADM, with preservatives. In the subsequent 15 implants, the product was changed to 0.6-mm-thick porcine dry ADM, without preservatives. Nineteen patients (25 implants) received six bilateral and 13 unilateral muscle-sparing breast reconstructions. For the first type of ADM used (0.9-mm-thick with preservatives), the rate of implant loss was 12% (n = 3) because of seroma (8%, n = 2) and infection (4%, n = 1). Minor complications, such as seroma (8%, n = 2), occurred when using the 0.6-mm-thick Braxon ® ADM and were treated by aspiration. Symmetrical and natural breasts with good shape, ptosis and softness to the touch were obtained. None of the patients reported experiencing pain. The preliminary results are encouraging from aesthetic and clinical viewpoints. Further studies are planned to evaluate long-term results. © 2014 Royal Australasian College of Surgeons.

  9. Amyotrophic lateral sclerosis positive for mutation in the CYTB gene and negative for SOD1 and ATXN2

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    Iván Cervantes-Aragón

    2017-04-01

    Full Text Available Señor editor, se examinó a una mujer de 28 años, originaria de Miahuatlán de Porfirio Díaz Oaxaca, México, remitida para descartar esclerosis lateral amiotrófica (ELA y miopatía mitocondrial por la unidad de rehabilitación básica. La paciente presentaba disfagia, debilidad muscular, calambres, fatiga e intolerancia al ejercicio, síntomas progresivos desde hace 2 años. Los familiares que la acompañaban refirieron que en ocasiones presentaba llanto sin causa alguna, así como odinofagia al pasar líquidos y comida sólida desde los 13 años, lo que había progresado a disfagia. A la paciente se le detectó sordera sensorial derecha a los tres años de edad y diabetes mellitus un año atrás, la cual se manejó con metformina 500mg cada 8 horas. No se le documentó historia de crisis convulsiva o actividad epiléptica hasta la fecha. A la exploración física no se encontró oftalmoplejía externa ni ptosis palpebral, pero sí hiperreflexia de miembros pélvicos y atrofia de los músculos de miembros torácicos muy marcada en las eminencias tenar e hipotenar. En la tomografía de cráneo contrastada no se encontraron infartos fantasmas, conocidos como stroke-like, pero la resonancia magnética simple de la columna vertebral mostró atrofia de las astas anteriores. En la historia familiar no se encontró ningún otro miembro afectado.

  10. Late radiation side effects, cosmetic outcomes and pain in breast cancer patients after breast-conserving surgery and three-dimensional conformal radiotherapy. Risk-modifying factors

    Energy Technology Data Exchange (ETDEWEB)

    Hille-Betz, Ursula; Soergel, Philipp; Kundu, Sudip; Klapdor, Ruediger; Hillemanns, Peter [Hannover Medical School, Department of Obstetrics and Gynaecology, Hannover (Germany); Vaske, Bernhard [Hannover Medical School, Institute of Medical Biometry and Informatics, Hannover (Germany); Bremer, Michael; Henkenberens, Christoph [Hannover Medical School, Department of Radiation Oncology and Special Oncology, Hannover (Germany)

    2016-01-15

    The purpose of this work was to identify parameters influencing the risk of late radiation side effects, fair or poor cosmetic outcomes (COs) and pain in breast cancer patients after breast-conserving therapy (BCT) and three-dimensional conformal radiotherapy (3D-CRT). Between 2006 and 2013, 159 patients were treated at the Hannover Medical School. Physician-rated toxicity according to the LENT-SOMA criteria, CO and pain were assessed by multivariate analysis. LENT-SOMA grade 1-4 toxicity was observed as follows: fibrosis 10.7 %, telangiectasia 1.2 %, arm oedema 8.8 % and breast oedema 5.0 %. In addition, 15.1 % of patients reported moderate or severe breast pain, and 21.4 % complained about moderate or severe pain in the arm or shoulder. In multivariate analysis, axillary clearing (AC) was significantly associated with lymphoedema of the arm [odds ratio (OR) 4.37, p = 0.011, 95 % confidence interval (CI) 1.4-13.58]. Breast oedema was also highly associated with AC (OR 10.59, p = 0.004, 95 % CI 2.1-53.36), a ptosis grade 2/3 or pseudoptosis and a bra size ≥ cup C (OR 5.34, p = 0.029, 95 % CI 1.2-24.12). A ptosis grade 2/3 or pseudoptosis and a bra size ≥ cup C were the parameters significantly associated with an unfavourable CO (OR 3.19, p = 0.019, 95 % CI 1.2-8.4). Concerning chronic breast pain, we found a trend related to the prescribed radiation dose including boost (OR 1.077, p = 0.060, 95 % CI 0.997-1.164). Chronic shoulder or arm pain was statistically significantly associated with lymphoedema of the arm (OR 3.9, p = 0.027, 95 % CI 1.17-13.5). Chronic arm and breast oedema were significantly influenced by the extent of surgery (AC). Ptotic and large breasts were significantly associated with unfavourable COs and chronic breast oedema. Late toxicities exclusive breast pain were not associated with radiotherapy parameters. (orig.) [German] Ziel dieser Arbeit war es, Parameter zu identifizieren, die Spaetschaeden nach Radiotherapie, ein unguenstiges

  11. Chromosome 10q tetrasomy: First reported case

    Energy Technology Data Exchange (ETDEWEB)

    Blackston, R.D.; May, K.M.; Jones, F.D. [Emory Univ., Atlanta, GA (United States)] [and others

    1994-09-01

    While there are several reports of trisomy 10q (at least 35), we are not aware of previous cases of 10q tetrasomy. We present what we believe to be the initial report of such a case. R.J. is a 6 1/2 year old white male who presented with multiple dysmorphic features, marked articulation problems, hyperactivity, and developmental delays. He is the product of a term uncomplicated pregnancy. There was a normal spontaneous vaginal delivery with a birth weight of 6 lbs. 4oz. and length was 19 1/2 inch. Dysmorphic features include small size, an asymmetrically small head, low set ears with overfolded helixes, bilateral ptosis, downslanting eyes, right eye esotropia, prominent nose, asymmetric facies, high palate, mild pectus excavatum deformity of chest, and hyperextensible elbow joints. The patient is in special needs classes for mildly mentally handicapped students. Chromosome analysis at a resolution of 800 bands revealed a complex rearrangement of chromosomes 10 and 11. The segment 10q25.3 to q16.3 appears to be inverted and duplicated within the long arm of chromosome 10 at band q25.3 and the same segment of chromosome 10 is present on the terminal end of the short arm of chromosome 11. There is no visible loss of material from chromosome 11. Fluorescence in situ hybridization was performed with a chromosome 10 specific {open_quotes}paint{close_quotes} to confirm that all of the material on the abnormal 10 and the material on the terminal short arm of 11 was from chromosome 10. Thus, it appears that the segment 10q25.3 to q26.3 is present in four copies. Parental chromosome studies are normal. We compared findings which differ in that the case of 10q tetrasomy did not have prenatal growth deficiency, microphthalmia, cleft palate, digital anomalies, heart, or renal defects. Whereas most cases of 10q trisomy are said to have severe mental deficiency, our case of 10q tetrasomy was only mildly delayed. We report this first apparent cited case of 10q tetrasomy.

  12. Jacobsen syndrome

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    Grossfeld Paul

    2009-03-01

    Full Text Available Abstract Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears. Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from ~7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be

  13. A retrospective analysis of different modalities for treatment of primary orbital non-Hodgkin's lymphomas

    International Nuclear Information System (INIS)

    Esik, Olga; Ikeda, H.; Mukai, K.; Kaneko, A.

    1996-01-01

    We have reviewed 37 patients with primary orbital lymphoma, using the Ann Arbor criteria and the Working Formulation and its modification. Thirty-one patients had stage I disease, four stage II, one stage III and one stage IV. The male to female ratio was 2.7:1. There were 34 low-grade tumours (including 24 mantle zone) and three intermediate-grade. Patients were divided into three groups according to their primary treatment. Group 1: radiotherapy (17 cases); Group 2: surgery alone (13 cases); Group 3: chemotherapy (seven cases). Patients were followed up from 5 months to 24.3 years, with a mean and median of 7.6 and 6.2 years, respectively. The BMDP software package was used for survival estimation (Kaplan-Meier) and determination of prognostic variable (univariate Cox regression). Local relapse-free survival at 10 years was 100% in Group 1, 0% in Group 2 and 42% in Group 3 with a statistically significant difference (p < 0.01) in favour of radiotherapy. Statistically significant good prognostic features were: complete remission (CR) in response to initial treatment, primary radiotherapy and older age. For stage I cases, there was no difference in distant relapse-free survival in the three groups. The overall cause-specific survival for stage I patients at 10 years was 100% for each group and at 20 years was 100, 67 and 0% for Group 1, 2 and 3. The difference between the primary radiotherapy and chemotherapy-treated groups was significant at the p = 0.08 level. Statistically significant prognostic factors were early stage, low-grade histology and primary radiotherapy. In one patient, ptosis and diplopia appeared after surgery. One case of glaucoma required enucleation, one patient suffered severe dry eye syndrome. All patients ((11(11))) in whom the lens received direct radiation developed cataracts of different degrees if follow-up was long enough. Cataract formation was prevented by adequate lens shielding. One patient in CR from a stage I low-grade tumour died

  14. Dandy-Walker syndrome in adult mimicking myasthenia gravis Síndrome de Dandy-Walker em adulto simulando miastenia gravis

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    Juliana Cardoso

    2007-03-01

    Full Text Available The Dandy-Walker syndrome (DWS is a rare posterior fossa malformation. The DWS can occur associated with other brain or systemic malformations, but ocular abnormalities in this disease are rare and clinical findings mimicking myasthenia gravis have not been described to date. We report a 23-year-old woman who presented mild limitation of the ocular movements with progressive palpebral ptosis, which changed in intensity during the day. The investigation showed negative anti-acetylcholine receptor antibody, repetitive nerve stimulation and "Tensilon test", but the brain magnetic resonance image reveals DWS with hydrocephalus associated with calosal dysgenesis. The characteristic of disease, clinical manifestations and pathologic features, specially the clinical evaluation of ocular abnormalities in suspicion of DWS, including the MG in differential diagnosis are discussed.A síndrome de Dandy-Walker (DWS é uma rara malformação da fossa posterior que pode ocorrer associada com outras malformações cerebrais ou sistêmicas. As alterações oculares são raras e as manifestações clínicas, simulando miastenia gravis (MG, não foram descritas até o momento. Descrevemos uma mulher de 23 anos apresentando discreta limitação da movimentação ocular com progressiva ptose palpebral que mudava de intensidade durante o dia. A investigação mostrou negativos o anticorpo anti-receptor de acetilcolina, a estimulação nervosa repetitiva e o "teste do Tensilon", porém a ressonância magnética de crânio revelou DWS com hidrocefalia associada à disgenesia de corpo caloso. As características da doença, manifestações clínicas e patológicas, especialmente a avaliação clínica de anormalidade ocular na suspeita de DWS serão discutidas, incluindo a MG no diagnóstico diferencial.

  15. A Clinical and Genetic Review of Aniridia

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    Reza Jafari

    2015-07-01

    Full Text Available Aniridia is a congenital pan-ocular, bilateral disorder. The term aniridia is a misleading misnomer, since at least a rudimentary iris is always present. Varied forms range from almost total absence to only mild hypoplasia of the iris. It is inherent in a number of syndromes, including Wilms tumor Aniridia-Genital anomalies-retardation (WAGR. Aniridia has been shown to be associated with mutations in the PAX6 gene, located on chromosome 11p13, telomeric to the Wilms’ tumor predisposition gene (WT1. The pair box gene 6 (PAX6 situated at 11p13 has been confirmed to be the leading gene associated with aniridia. The PAX6 mutation is present in individuals worldwide and has been studied in Indian, Malaysian, Chinese and Mexican families. Several categories of PAX6 mutations include: nonsense mutations, splicing mutations, frameshift mutations (deletion or insertion, in-frame insertion or deletion, missense mutations and run-on mutations. A novel de novo frameshift mutation in PAX6 most possibly occurred in the paternal gamete. Mutation in PAX6 brings about amino acid substitution for instance proline to glutamine. Deletion of 11p13 involves the PAX6 (aniridia locus and the adjacent WT1 (Wilms tumor locus. Haploinsufficiency at the PAX6 locus brings on aniridia, a pan-ocular eye condition characterized by iris hypoplasia and various other anterior and posterior eye defects, subtle hypogonadotropic hypogonadism and borderline Growth Hormone (GH deficiency. Aniridia may also be affiliated with retinal tears and detachments. Electroretinograms (ERGs done in aniridia illustrate definite retinal dysfunction. Other clinical aspects related to aniridia are ptosis with reduced levator function and anterior polar cataracts. The PAX6 gene mutation was also associated with early-onset diabetes mellitus and aniridia. Aniridia combined with zonular cataract and polydactyly was also described in a patient with Bardet-Biedl syndrome. Aniridia with sensorineural

  16. OCULAR DISORDERS IN CHILDREN WITH DEVELOPMENTAL DELAY

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    Meera Suresh Joshi

    2017-08-01

    Full Text Available BACKGROUND In India, an estimated 1.5-2.5% children below 2 years of age are developmentally delayed. A higher incidence of ocular disability is seen in these children, refractive errors and strabismus being most common. These can add to the overall burden of health as most of them have developmental comorbidities. The aim of the study is to study the ocular disorders in children with developmental delay. MATERIALS AND METHODS We studied 112 children between the 2-12 years of age diagnosed to have developmental delay. All the subjects underwent a detailed ophthalmic evaluation including visual acuity testing using Snellen’s charts (3m and 6m and Log MAR charts (recorded as per Snellen’s vision testing to maintain uniformity, cycloplegic refraction, torchlight and slit-lamp evaluation and dilated fundus examination. The data was tabulated and represented using bar diagrams, Pie charts and graphs. The results were expressed as percentages. Design-Cross-sectional, observational study. RESULTS 66 boys and 46 girls (total 112 were evaluated. The mean age of the study population was 7.8 years ± 2.4 SD. The aetiology of developmental delay was cerebral palsy (64%, Down syndrome (22%, autism (7%, intellectual disability (4.5% and 1 case each of congenital hypothyroidism and ataxia telangiectasia. The prevalence of ocular disorders was found to be 84.8%, which was slightly higher in girls (87% as compared to boys (83%. Refractive error (79.5% was the commonest ocular disorder followed by strabismus (46.4%. Astigmatism (44.6% was the commonest refractive error, which was divided into myopic astigmatism (19.6%, hyperopic astigmatism (13.8% and mixed astigmatism (11.2%. Simple hyperopia was seen in 21.9% subjects and simple myopia in 12.1%. Exotropia (52% was commoner than esotropia (48%. Other ocular abnormalities included optic atrophy, nystagmus, epicanthal folds, cataract, mongoloid slant, ptosis, telecanthus, conjunctival telangiectasia and

  17. Impacto de la mastoplastia reductiva con técnicas de mínima incisión. Las Tunas, 2008-2010

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    Oliver Alain Dieppa Ramírez

    2015-12-01

    Full Text Available Se realizó un estudio experimental, con el objetivo de evaluar la utilidad de la Mastoplastia reductiva con técnicas de mínima incisión, en el Servicio de Cirugía Plástica del Hospital Provincial Docente “Dr. Ernesto Guevara de la Serna” de la ciudad de Las Tunas; en el periodo comprendido de abril de 2008 a marzo de 2010. El universo estuvo constituido por las 281 pacientes con diagnóstico de hipertrofia mamaria, acompañada o no de ptosis mamaria, y la muestra quedó constituida por las 136 pacientes con diagnóstico de hipertrofia mamaria, grado I, II o III, con criterio quirúrgico estético y/o funcional, las cuales tributaban a la realización de la cirugía con técnicas de mínima incisión durante el período de estudio. Para lograr los objetivos, los datos fueron recogidos de fuentes primarias y secundarias a través del interrogatorio directo, examen físico y de la historia clínica de cada paciente. Todos fueron procesados utilizando la estadística descriptiva mediante el análisis porcentual. Los principales resultados mostraron un predominio del grupo de 23 a 35 años de edad, el tipo de deformidad más operada fue la hipertrofia mamaria moderada, asimismo el tipo de anestesia más usada fue la local. A pesar de ser la dehiscencia de la herida quirúrgica la más frecuente complicación, las operadas se mostraron altamente satisfechas de acuerdo al tamaño, forma, simetría y sensibilidad; siendo la reducción de la cicatriz resultante el parámetro de mayor impacto.

  18. Skin sparing mastectomy: Technique and suggested methods of reconstruction

    International Nuclear Information System (INIS)

    Farahat, A.M.; Hashim, T.; Soliman, H.O.; Manie, T.M.; Soliman, O.M.

    2014-01-01

    To demonstrate the feasibility and accessibility of performing adequate mastectomy to extirpate the breast tissue, along with en-block formal axillary dissection performed from within the same incision. We also compared different methods of immediate breast reconstruction used to fill the skin envelope to achieve the best aesthetic results. Methods: 38 patients with breast cancer underwent skin-sparing mastectomy with formal axillary clearance, through a circum-areolar incision. Immediate breast reconstruction was performed using different techniques to fill in the skin envelope. Two reconstruction groups were assigned; group 1: Autologus tissue transfer only (n= 24), and group 2: implant augmentation (n= 14). Autologus tissue transfer: The techniques used included filling in the skin envelope using Extended Latissimus Dorsi flap (18 patients) and Pedicled TRAM flap (6 patients). Augmentation with implants: Subpectoral implants(4 patients), a rounded implant placed under the pectoralis major muscle to augment an LD reconstructed breast. LD pocket (10 patients), an anatomical implant placed over the pectoralis major muscle within a pocket created by the LD flap. No contra-lateral procedure was performed in any of the cases to achieve symmetry. Results: All cases underwent adequate excision of the breast tissue along with en-block complete axillary clearance (when indicated), without the need for an additional axillary incision. Eighteen patients underwent reconstruction using extended LD flaps only, six had TRAM flaps, four had augmentation using implants placed below the pectoralis muscle along with LD flaps, and ten had implants placed within the LD pocket. Breast shape, volume and contour were successfully restored in all patients. Adequate degree of ptosis was achieved, to ensure maximal symmetry. Conclusions: Skin Sparing mastectomy through a circum-areolar incision has proven to be a safe and feasible option for the management of breast cancer in Egyptian

  19. Clinical outcomes of individualized botulinum neurotoxin type A injection techniques in patients with essential blepharospasm.

    Science.gov (United States)

    Sung, Youngje; Nam, Sang Min; Lew, Helen

    2015-04-01

    To assess the clinical outcomes following botulinum neurotoxin type A (BoNT-A) treatment with an individualized injection technique based on the types of spasms and to compare the results of the individualized injection technique with those of the conventional injection technique in the same patients. From November 2011 to July 2013, 77 BoNT-A injections were performed in 38 patients. Eighteen patients were treated with conventional BoNT-A injections before 2011, and 20 patients were referred to our hospital for unsatisfactory results after a conventional injection technique. We classified the patients by spasm-dominant sites: the lateral orbital area, representing the orbital orbicularis-dominant group (ODG); the glabella, representing the corrugator-dominant group (CDG); and the ptosis, representing the palpebral part of the orbicularis-dominant group (PDG). We increased the injection dose into the spasm-dominant sites of the blepharospasm groups. We assessed subjective symptom scores (functional disability score, FDS) after treatment. This study included 38 patients (26 women, 12 men; mean age, 60.6 ± 10.9 years). There were 21 patients in the ODG, 10 patients in the CDG, and 7 patients in the PDG. Mean ages were 59.7 ± 12.6, 59.8 ± 8.5, and 66.8 ± 9.0 years, and mean BoNT-A injection dose was 38.8 ± 11.2, 38.8 ± 11.2, and 38.8 ± 10.8 U in each group, respectively (p = 0.44, 0.82 Kruskal-Wallis test). Mean FDS after injection was 1.7 ± 0.7 in the ODG, 1.4 ± 0.8 in the CDG, and 1.2 ± 0.3 in the PDG. There were significant differences in reading and job scale among the three groups. In a comparison between the conventional and individualized injection techniques, there was a significant improvement in mean FDS and in the reading scale in the PDG with the individualized injection technique. The success rate was 92.1% in the conventional injection group and 94.1% in the individualized injection group. The individualized injection technique of Bo

  20. Catheter versus non-catheter angiography in isolated third nerve palsy

    International Nuclear Information System (INIS)

    Lee, A.G.

    2007-01-01

    angiography in select circumstances. The lowest risk categories for aneurysm are the isolated dilated pupil without ptosis or motility deficit (generally not a third nerve palsy but more commonly the tonic pupil, pharmacologic dilation, or iris damage) and the isolated, pupil-spared but otherwise complete external dysfunction third nerve palsy in a vasculopathic patient. In these patients, the risks of catheter angiography is probably higher than the risks for aneurysm and CTA or MRA is probably sufficient to exclude aneurysm. Patients with high risk for aneurysm (e.g. acute painful pupil involved third nerve palsy) however probably still require strong consideration for catheter angiography but this decision must be individualized. (author)

  1. DIAGNOSIS DAN PENATALAKSANAAru LIMFOMA ORtsITA

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    Ardizal Rahman

    2014-12-01

    Full Text Available Limfoma orbita merujuk pada limfoma yang terjadi di konjungtiva, kelenjar lakrimal, palpebradan otot-otot ekstraokular. Limfoma primer non-Hodgkin (NHL dari orbita dapat ditemukanpada hanya 1o/o dari semua limforna non-Hodgkin. Anaiisis mutasi somatik pada regiovariabel (V dari immunoglobulin (ig dan segmen gen rantai berat (H telah menunjukkanperan dari stimulasi antigen kronik pada patogenesis limfoma /nucosa-associated lymphoidflssue (MALT. Patogen mikroba seperti Helicobacter pylaridan Chlamydia pneumonia dapaimendasari proses inflamasi dan pada akhirnya memicu akuisisi MALT juga memainkanperan penting dalam tranformasi maligna dan ekspansi klonal lanjutan limfoma. Penentuanstadium kanker sangat penting karena akan menentukan terapi apa yang akan diberikan dankemungkinan remisi dan prognosisnya. Berdasarkan sistem stadium Ann-Arbor, limfoma yangterbatas di orbita disebut sebagai stadium l, keterlibatan struktur sekitar (sinus paranasal,tonsil, dan hidung menjadikannya stadium ll. Stadium lll adalah penyakit nodal abdominaldibawah diafragma dan stadium lV merujuk pada keterlibatan yang tersebar dari satu ataulebih lokasi ekstranodal (hepar, sum-sum tulang atau sistem saraf pusat. Mayoritas pasiendatang dengan keluhan massa konjungtiva berwarna pink (91%, diikuti hiperemis konjungtiva(32%, propiosis (27%, massa palpebra atau orbita (19"fi, penurunan visus dan ptosis (6%,dan diplopia(2%. Bilateralitas terjadi pada 10% hingga 15% kasus dimana 80 % terjadisecarasimultan sedangkan 20% merupakan kondisi yang berurutan. Penilaian lanjut untuk stagingyang akurat dan perencanaan terapitermasuk anamnesis yang lengkap dan pemeriksaan fisik,pemeriksaan laboratorium rutin, elektroforesis protein sei-um, LDH serum, Fr-mikroglobulin,rontgen thoraks, CT scan thoraks, abdornen, dan pelvis, dan biopsisum-sum tulang. Diagnosapositif harus berdasarkan pada perneriksaan histologik dari sampeltumor yang memadai yangdiperoleh dengan biopsiorbita. Beberapa kriteria

  2. Study on the treatment of traumatic orbital apex syndrome by nasal endoscopic surgery.

    Science.gov (United States)

    Li, Youzhong; Wu, Weijing; Xiao, Zian; Peng, Anquan

    2011-03-01

    Orbital apex syndrome (OAS) is a complex disease caused by a variety of pathological factors, and trauma is one of the main factors/causes. Clinical data of 17 cases of traumatic OAS treated by nasal endoscopic surgery in our department from January 2002 to April 2009 were gathered and reviewed. Among them, the six patients presented with OAS after injury to the lateral wall of orbital apex. Seven other patients exhibited OAS after injury to the medial wall of orbital apex, two displayed OAS after zygomatic trauma, while OAS manifested in the other two patients with craniocerebral trauma 3 days after they had decompressive craniotomy--of them, one was blind in both eyes. In the 17 cases, 6 patients were without light sensation, 1 was blind in both eyes; the sight-chart index of eight patients was 0.1, that of three other patients was 0.1-0.2. Fifteen patients displayed eyeball movement disturbance (disorder) and cornea sensory disturbance (disorder), two were with the eyeball abducent disturbance. After the nasal endoscopic surgeries for OAS performed on the 17, the sight of the most patients was restored in varying degrees. The sight of nine patients was between 0.2 and 0.3, that of two patients was between 0.1 and 0.2, that of the other two patients was 0.1, and that of four patients remained unchanged. The eyeball movement and the cornea esthesia in 15 patients recovered from the surgeries, one patient recovered with good eyeball adducent movement and the cornea esthesia but with eyeball abducent disturbance, the other patient did not make a recovery from the eyeball immobility, cornea anesthesia and ptosis. A follow-up lasting 2 months to 2 years suggested that the 16 patients had stable recovery from the surgeries. Satisfactory results could be achieved in the treatment of traumatic OAS by nasal endoscopic surgery. From objective assessment of the therapeutic effects of traumatic OAS, it can be concluded that if a patient is diagnosed with fractures of the

  3. Cluster headache

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    Ducros Anne

    2008-07-01

    Full Text Available Abstract Cluster headache (CH is a primary headache disease characterized by recurrent short-lasting attacks (15 to 180 minutes of excruciating unilateral periorbital pain accompanied by ipsilateral autonomic signs (lacrimation, nasal congestion, ptosis, miosis, lid edema, redness of the eye. It affects young adults, predominantly males. Prevalence is estimated at 0.5–1.0/1,000. CH has a circannual and circadian periodicity, attacks being clustered (hence the name in bouts that can occur during specific months of the year. Alcohol is the only dietary trigger of CH, strong odors (mainly solvents and cigarette smoke and napping may also trigger CH attacks. During bouts, attacks may happen at precise hours, especially during the night. During the attacks, patients tend to be restless. CH may be episodic or chronic, depending on the presence of remission periods. CH is associated with trigeminovascular activation and neuroendocrine and vegetative disturbances, however, the precise cautive mechanisms remain unknown. Involvement of the hypothalamus (a structure regulating endocrine function and sleep-wake rhythms has been confirmed, explaining, at least in part, the cyclic aspects of CH. The disease is familial in about 10% of cases. Genetic factors play a role in CH susceptibility, and a causative role has been suggested for the hypocretin receptor gene. Diagnosis is clinical. Differential diagnoses include other primary headache diseases such as migraine, paroxysmal hemicrania and SUNCT syndrome. At present, there is no curative treatment. There are efficient treatments to shorten the painful attacks (acute treatments and to reduce the number of daily attacks (prophylactic treatments. Acute treatment is based on subcutaneous administration of sumatriptan and high-flow oxygen. Verapamil, lithium, methysergide, prednisone, greater occipital nerve blocks and topiramate may be used for prophylaxis. In refractory cases, deep-brain stimulation of the

  4. Delayed manifestation of bilateral scleral thinning after I-BRITE® procedure and review of literature for cosmetic eye-whitening procedures

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    Moshirfar M

    2015-03-01

    Full Text Available Majid Moshirfar,1 Michael V McCaughey,2 Carlton R Fenzl,3 Luis Santiago-Caban,4 Gregory D Kramer,3 Nick Mamalis3 1Department of Ophthalmology, Francis I Proctor Foundation, University of California San Francisco, San Francisco, CA, USA; 2University of New Mexico School of Medicine, Albuquerque, NM, USA; 3John A Moran Eye Center, University of Utah, Salt Lake City, UT, USA; 4Department of Ophthalmology, University of Puerto Rico School of Medicine, San Juan, PR, USA Purpose: To report a case of delayed-onset bilateral scleral thinning and calcium deposition following a cosmetic ocular-whitening procedure (I-BRITE®.Methods: A 33-year-old male patient with a history of right-sided ptosis repair and left-sided anterior uveitis had previously undergone bilateral I-BRITE treatment for chronic conjunctival hyperemia. Four years after the procedure, the patient was referred to our institution with bilateral scleral thinning and overlying calcific depositions. A literature review was performed through PubMed from 1980 through 2014 using the search terms ‘cosmetic’, ‘ocular’, ‘conjunctivectomy’, ‘regional conjunctivectomy’, ‘I-BRITE’, ‘eye-whitening’, ‘scleritis’, ‘necrotizing scleritis’, ‘anterior uveitis’, ‘mitomycin C’, ‘5-fluorouracil’, and ‘bevacizumab’, along with associated cross-referencing from relevant articles.Results: Examination of the patient revealed bilateral necrotizing scleritis within the nasal region of both eyes. Calcified plaques were also present within the areas of scleromalacia, along with epithelial defects demonstrated with fluorescein staining. Although evidence of previous intraocular inflammation was apparent within the left eye, there were no active signs of inflammation evident within either eye on initial presentation. Complication rates reported in the literature include: scleral thinning (1.8%, calcific plaque formation (2.9%, fibrovascular proliferation (13%, diplopia (1

  5. [A pilot study of ocular diseases screening for neonates in China].

    Science.gov (United States)

    Nie, Wen-ying; Wu, Han-rong; Qi, Yi-sheng; Zhang, Min; Hou, Qian; Yang, Hai-xia; Gong, Lu-xia; Dong, Yan-ru; Guo, Yu-luan; Shi, Jin-na; Yin, Su-ying; Li, Ping-yu

    2008-06-01

    To explore the clinical strategies for the screening of newborn eye diseases and obtain information concerning the incidence of newborn ocular diseases. Newborns in a baby-friendly nursery were evaluated for mass screening of eye diseases 2 to 7 days after birth (including reaction to light stimulation, external ocular examination and test for pupil red reflex) and those with abnormalities were subjected to diagnostic examination (external ocular examination with a hand-held slit-lamp, pupil red reflex and mydriatic examination). Newborns in neonatal intensive care unit (NICU) were subjected to screening 5 to 14 days after birth and then, together with those with high risk factors, received a comprehensive examination for screening and diagnostic purposes. The suspected cases were referred to department of ophthalmology for definite diagnosis. Among the 15,398 (91.65%) newborns who were enrolled the screening program, 12 different eye diseases (involving 1266 cases) were detected, with a prevalence of 8.22%. Of these eye diseases, 7 were congenital ocular diseases, involving 809 cases (5. 254%) and including congenital ptosis in 2 cases (0.013%), congenital corneal opacity in 6 cases (0.039%), persistent pupillary membrane in 724 cases (4.702%), congenital cataract in 15 cases (0.097%), persistent hyaloid artery in 54 cases (0.351%), obstruction of nasolacrimal duct in 7 cases (0.046%) and lacrimal gland prolapse in 1 cases (0.007%). Five different diseases (457 cases, 2. 968%) detected were acquired in nature, including neonatal conjunctivitis in 391 case (2.539%), vitreous hemorrhage in 6 cases (0.039%), retinal hemorrhage in 34 cases (0.221%), and neonatal dacryocystitis in 23 cases (0.149%). Of 27 premature babies with body weight lower than 1500 g, 3 had retinopathy of prematurity (ROP, 6 eyes involved). Early intervention is of great importance for the prevention and treatment of neonatal ocular diseases. The screening of newborn ocular diseases is not only

  6. Analysis of the Toxicity and Histopathology Induced by the Oral Administration of Pseudanabaena galeata and Geitlerinema splendidum (Cyanobacteria Extracts to Mice

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    Marisa Rangel

    2014-01-01

    Full Text Available Cyanobacteria are common members of the freshwater microbiota in lakes and drinking water reservoirs, and are responsible for several cases of human intoxications in Brazil. Pseudanabaena galeata and Geitlerinema splendidum are examples of the toxic species that are very frequently found in reservoirs in Sao Paulo, which is the most densely populated area in Brazil. In the search for toxic strains collected from water reservoirs and maintained in the Cyanobacterial Culture Collection (CCIBt of the Institute of Botany of Brazil, the acetic acid extracts (AE of P. galeata CCIBt 3082 and G. splendidum CCIBt 3223 were analyzed by planar chromatography, which indicated the absence of cyanotoxins. Animal tests were then carried out, and both extracts were found to induce toxic effects in mice when administered intraperitoneally. The present study aimed to investigate whether the oral ingestion of the above mentioned cyanobacteria extracts would also induce toxic effects in mice. Necropsy and histopathological studies were conducted using tissue samples from the animals, which were euthanized one week after the administration of the extracts. The AE of P. galeata did not cause death but did induce transient symptoms, including eyebrow ptosis, straub tail, and pain. The euthanized animals presented hemorrhage in the liver, whereas the histological analysis showed disorganization of the hepatic parenchyma, necrosis, hyperemia, and proximity of the centrilobular vein in the liver. In addition, alterations in the convoluted tubules of the kidneys were observed, and the lungs were unaffected. The AE of G. splendidum caused only one death, and induced transient symptoms, such as dyspnea, paralysis, and pain, in the other mice. The necropsy of the euthanized mice showed hemorrhage in the lungs and liver. The lungs presented hemorrhagic focuses, alveolar collapse, and granulomatous foci. The liver presented hemorrhagic and enlarged sinusoids, hyperemia

  7. Analysis of the toxicity and histopathology induced by the oral administration of Pseudanabaena galeata and Geitlerinema splendidum (cyanobacteria) extracts to mice.

    Science.gov (United States)

    Rangel, Marisa; Martins, Joyce C G; Garcia, Angélica Nunes; Conserva, Geanne A A; Costa-Neves, Adriana; Sant'Anna, Célia Leite; de Carvalho, Luciana Retz

    2014-01-22

    Cyanobacteria are common members of the freshwater microbiota in lakes and drinking water reservoirs, and are responsible for several cases of human intoxications in Brazil. Pseudanabaena galeata and Geitlerinema splendidum are examples of the toxic species that are very frequently found in reservoirs in Sao Paulo, which is the most densely populated area in Brazil. In the search for toxic strains collected from water reservoirs and maintained in the Cyanobacterial Culture Collection (CCIBt) of the Institute of Botany of Brazil, the acetic acid extracts (AE) of P. galeata CCIBt 3082 and G. splendidum CCIBt 3223 were analyzed by planar chromatography, which indicated the absence of cyanotoxins. Animal tests were then carried out, and both extracts were found to induce toxic effects in mice when administered intraperitoneally. The present study aimed to investigate whether the oral ingestion of the above mentioned cyanobacteria extracts would also induce toxic effects in mice. Necropsy and histopathological studies were conducted using tissue samples from the animals, which were euthanized one week after the administration of the extracts. The AE of P. galeata did not cause death but did induce transient symptoms, including eyebrow ptosis, straub tail, and pain. The euthanized animals presented hemorrhage in the liver, whereas the histological analysis showed disorganization of the hepatic parenchyma, necrosis, hyperemia, and proximity of the centrilobular vein in the liver. In addition, alterations in the convoluted tubules of the kidneys were observed, and the lungs were unaffected. The AE of G. splendidum caused only one death, and induced transient symptoms, such as dyspnea, paralysis, and pain, in the other mice. The necropsy of the euthanized mice showed hemorrhage in the lungs and liver. The lungs presented hemorrhagic focuses, alveolar collapse, and granulomatous foci. The liver presented hemorrhagic and enlarged sinusoids, hyperemia, proximity of the

  8. Age-dependent Characteristics in Women with Breast Cancer: Mastectomy and Reconstructive Trends at an Urban Academic Institution.

    Science.gov (United States)

    Rodby, Katherine A; Robinson, Emilie; Danielson, Kirstie K; Quinn, Karina P; Antony, Anuja K

    2016-03-01

    likely to pursue risk-reduction procedures and implant-based strategies, whereas older women had a higher propensity for abdominal-based autologous reconstruction. In addition, preferential reconstructive strategies correlate with age-dependent archetypical features of the breast (higher profile implants in younger patients; autologous reconstruction on affected side mimicking natural ptosis, and contralateral mastopexy in older patients). These trends seem to be consistent with each increasing year of age. Age-related preferences and expectations, age-dependent body habitus and breast shape, and lifetime risk play a role in the choices pursued for mastectomy and reconstruction.

  9. [Usefulness of neuroendoscopy and a neuronavigator for removal of clival chordoma].

    Science.gov (United States)

    Miyagi, A; Maeda, K; Sugawara, T

    1998-02-01

    We report a case of large clival chordoma. The patient was a 56-year-old male who was admitted to our hospital with left eye ptosis and diplopia of 2 months duration. On admission, neurological examinations revealed oculomotor nerve palsy of the left eye. Skull radiographs with polytomographs demonstrated marked destruction of the clivus. A plain computed tomography (CT) scan revealed a large iso-attenuated mass in the clivus, extending anteriorly into the sphenoidal sinus, superiorly into the suprasellar cistern, bilaterally into the petrous apex, posteriorly into the prepontine cistern and caudally into the foramen magnum. An enhanced CT scan demonstrated a slightly enhanced tumor. A high-resolution bone-window CT scan revealed marked destruction of the clivus and bilateral petrous apex. Magnetic resonance imaging (MRI) scans disclosed a large enhanced mass extending superiorly into the suprasellar cistern, bilaterally into the petrous apex and inferiorly into the foramen magnum. The tumor extended so widely that we decided on a one-stage operation via a transsphenoidal sublabial transseptal approach and transoral transpalatal approach. At surgery, we employed a neuronavigator and Codman 4-mm rigid neuroendoscope with 0 degree, 30 degrees and 70 degrees angled lenses. The tumor was very soft and suckable, and could be easily removed by applying CUSA, a pituitary curette and suction. The neuronavigator was particularly useful because the surgeon had a real-time two-dimensional representation of the position of the tip of this device in the corresponding imaging space intraoperatively. The neuroendoscope also proved useful, since remnant tumor tissues that could not be seen under an operating microscope were frequently recognized near or around the entrance of the tumor cavity, cavernous sinus region and petroclival junction area. The surgeon was able to remove these remnants safely by checking on the neuroendoscope monitor. The tumor was excised completely. The

  10. Clinical Features of the Ophthalmic Status in Pregnant Women

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    V. N. Trubilin

    2018-01-01

    Full Text Available Ophthalmologist consultation has an important role in the examination of pregnant women. In some cases, his conclusion can play a decisive role in choice of delivery method. Obstetricians-gynecologists rely on ophthalmologist opinion for determining the severity of preeclampsia; it affects the treatment tactics and the life of mother and child. Examination of a pregnant woman has a number of characteristics, with regard to them, 3 groups of patients, which can be identified: the first group — Physiological pregnancywithout ophthalmological pathology. The second group: Physiological pregnancy with eye pathology in the anamnesis: myopia, peripheral choriovitreoretinal dystrophy; retinal detachment, vitreous body, vascular membrane, etc. Third group — Pathologically flowing pregnancy with pathology resulting from pregnancy: pre-eclampsia, anemia, diabetes and others pregnant. In physiological pregnancy without ophthalmological pathology, the most common physiological changes are increased pigmentation around the eyes, ptosis, a decrease of conjunctival capillaries, changes of cornea sensitivity and thickness, and, consequently, a change in refraction with a myopic shift, a decrease of tolerance to contact lenses, a decrease intraocular pressure, hemeralopia. It is necessary to differentiate the physiological feature of pregnancy, which include, in particular, the shift of refraction to the myopia, from pathological manifestations such as retinal angiopathy, macular edema, central serous chorioretinopathy and others. An important aspect is the  identification of potentially dangerous conditions of laser retina coagulation no later than 34 weeks of gestation with considering thepossibility of rheumatogenic retinal detachment and dystrophic changes in the delivery. This procedure can allow avoiding operativedelivery in the second group of patients. Timely detection of angiospasm on fundus in patients with pre-eclampsia from the third

  11. Cavernous malformations isolated from cranial nerves: Unexpected diagnosis?

    Science.gov (United States)

    Rotondo, Michele; Natale, Massimo; D'Avanzo, Raffaele; Pascale, Michela; Scuotto, Assunta

    2014-11-01

    Cranial nerves (CN) cavernous malformations (CMs) are lesions that are isolated from the CNs. The authors present three cases of CN CMs, for which MR was demonstrated to be critical for management, and surgical resection produced good outcomes for the patients. Surgical removal is the recommended course of action to restore or preserve neurological function and to eliminate the risk of future haemorrhage. However, the anatomical location and the complexity of nearby neural structures can make these lesions difficult to access and remove. In this study, the authors review the literature of reported cases of CN CMs to analyse the clinical and radiographic presentations, surgical approaches and neurological outcomes. A MEDLINE/Pub Med search was performed and revealed 86 cases of CN CMs. The authors report three additional cases in this study for a total of 89 cases. CMs affecting the optic nerve (CN II), oculomotor nerve (CN III), facial/vestibule-cochlear nerves (CN VII, CN VIII) have been described. The records of three patients were reviewed with respect to the lesion locations, symptoms, surgical approaches and therapeutic considerations. Clinical and radiological follow-up results are reported. Three patients (2 females, 1 male; age range 21-37 year) presented with three CN lesions. One lesion involved CN III, one lesion involved CN VII-CN VIII, and one involved CN II. The patient with the CN III lesion had a one-month history of mild right ptosis and diplopia. The patient with the CN VII-CN VIII lesion exhibited acute hearing loss and on the left and left facial paresis. The patient with the opticchiasmatic lesion presented with acute visual deterioration on the right and a left temporal field deficit in the left eye. Pterional and orbitozygomatic craniotomies were performed for the CN III lesion and the CN II lesion, and retrosigmoid craniotomy was performed for the cerebello-pontine angle lesion. All patients experienced symptom improvement after surgery. On

  12. Inflammatory myofibroblastic tumor of the orbit: A clinico-pathological study of 25 cases

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    Diego Strianese

    2018-01-01

    Full Text Available Background: Inflammatory myofibroblastic tumor (IMT is a rare entity characterized by the presence of myofibroblasts and inflammatory cells within a fibrous stroma, which typically occurs in children or young adults. The IMT is considered generally a benign lesion, although about 20% of cases may experience recurrence, and most rarely develop metastasis. Herein, we present the largest series of primary orbital IMT ever reported. Patients and methods: The clinical records of 25 patients, collected between the 1995 and 2015, with biopsy-proven diagnosis of orbital IMT were retrospectively reviewed to determine demographic, clinical, radiologic and pathological features, management, and outcome. Results: The study included 13 females and 12 male patients, age ranged from 5 to 76 years. Disease onset was in all cases unilateral (25/25, with posterior location (10/25 or extending anterior to posterior (7/25. The most common signs and symptoms were: proptosis (19/25, ptosis (18/25, diplopia (10/25, periocular swelling (9/25, pain (8/25, redness (7/25. All patients underwent to incisional biopsy which included total or subtotal tumor resection avoiding arming of the adjacent structure, followed by systemic steroid therapy (22/25 or radiotherapy (3/25. The disease recurred in 6 (24% patients who responded to the subsequent therapy. No one developed metastasis or died because of the disease. Conclusion: IMT is a distinct entity which may occur in the orbit primarily. It should be considered in differential diagnosis in all orbital masses, particularly with onset of acute or subcronic inflammation. Surgical biopsy associated to a partial debulcking of the tumor, avoiding to damage adjacent vital structure may contribute to improve the outcome. Steroid therapy, seems to be the suitable as first line medical therapy, although, as reported in literature, not all cases respond to this treatment regimen. Radiotherapy, may be considered as an alternative

  13. Radiological and functional outcomes of high-grade spondylolisthesis treated by intrasacral fixation, dome resection and circumferential fusion: a retrospective series of 20 consecutive cases with a minimum of 2 years follow-up.

    Science.gov (United States)

    Ferrero, E; Ilharreborde, B; Mas, V; Vidal, C; Simon, A-L; Mazda, K

    2018-01-20

    Major concern during surgery for high-grade spondylolisthesis (HGS) is to reduce lumbosacral kyphosis and restore sagittal alignment. Despite the numerous methods described, lumbosacral fixation in HGS is a challenging technique associated with high complication rate. Few series have described outcomes and most of the results are limited to lumbosacral correction without global sagittal alignment analysis. This study aims at analyzing clinical and radiological outcomes of HGS patients treated with intrasacral rods on full spine radiographs. HGS patients (Meyerding III or higher) operated between 2004 and 2014 were reviewed. All patients underwent full spine stereoradiographic images. After L5 and S1 decompression, reduction and circumferential fusion with intrasacral rod fixation and fusion up to L4 were performed under fluoroscopy. The entry points for S1 screws were located 3-5 mm above and 5 mm lateral to the first sacral hole, toward the promontory. The two short distal fusion rods were then positioned into the sacrum guided by anteroposterior fluoroscopy using Jackson's technique. Then, sacral dome resection was performed and a PEEK cage was impacted in L5S1 after reduction. Postoperatively, the hip and knee were kept flexed at 45° for 1 week and extended progressively. Preoperative, 3 months postoperative and last follow-up (> 2 years minimum) clinical and radiographic data were collected. Sagittal parameters included lumbosacral angle (LSA), olisthesis, T1 spinopelvic inclination (T1SPi) and spinopelvic parameters. 20 HGS patients were included (8 ptosis, 5 Meyerding IV). The mean age was 14 years. At final FU (7.2 years ± 3), LSA kyphosis and olisthesis were reduced (65° ± 14 vs 99° ± 11, p motor deficit that occurred when patients were put in standing position. However, all recovered before 3 months postoperatively. Intrasacral rod fixation appears to be an effective technique to correct LSA kyphosis, compensatory hyperlordosis and

  14. Facial paralysis and vestibular syndrome in feedlot cattle in Argentina Paralisia facial e síndrome vestibular de bovinos em confinamento

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    Ernesto Odriozola

    2009-11-01

    Full Text Available This paper reports 6 outbreaks of neurological disease associated with paralysis of the facial and vestibulocochlear nerves caused by intracranial space occupying lesions in feedlot cattle. The clinical signs observed were characterized by head tilt, uni or bilateral drooping and paralysis of the ears, eyelid ptosis, keratoconjunctivitis, and different degrees of ataxia. Morbidity and mortality rates ranged from 1.1 to 50% and 0 to 1%, respectively. Gross lesions observed included yellow, thickened leptomeninges, and marked enlargement of the roots of cranial nerves VII (facial and VIII (vestibulocochlear. Histopathologically, there was severe, chronic, granulomatous meningitis and, in one case, chronic, granulomatous neuritis of the VII and VIII cranial nerves. Attempts to identify bacterial, viral, or parasitic agents were unsuccessful. Based on the morphologic lesions, the clinical condition was diagnosed as facial paralysis and vestibular syndrome associated with space occupying lesions in the meninges and the cranial nerves VII and VIII. Feedlot is a practice of growing diffusion in our country and this is a first report of outbreaks of facial paralysis and vestibular disease associated with space occupying lesions in Argentina.Descrevem-se 6 surtos de uma doença neurológica com paralisia dos nervos facial e vestibulo-coclear causada por lesões intracraniais que ocupam espaço em bovinos em confinamento. Os sinais clínicos foram desvio da cabeça, queda e paralisia das orelhas, ptose palpebral, ceratoconjuntivite e diferentes graus de ataxia. As taxas de morbidade e mortalidade foram de 1.1%-50% e de 0-1%, respectivamente. As lesões macroscópicas incluíram engrossamento das meninges, que se apresentavam amareladas, e marcado engrossamento das raízes dos nervos cranianos VII (facial e VIII (vestíbulo-coclear. Histologicamente observaram-se meningite crônica granulomatosa e, em um caso, neurite granulomatosa crônica do VII e VIII

  15. Botulinum toxin for the treatment of strabismus.

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    Rowe, Fiona J; Noonan, Carmel P

    2017-03-02

    China of 47 participants (94 eyes) suggested that people receiving botulinum toxin combined with sodium hyaluronate may have a similar or slightly reduced chance of achieving ocular alignment compared with botulinum toxin alone (RR 0.81, 95% CI 0.36 to 1.82; low-certainty evidence).Reported complications in people given botulinum toxin in the included trials included ptosis (range 9% to 41.66%) and vertical deviation (range 8.3% to 18.51%). Ptosis occurred less frequently when treated with botulinum toxin combined with sodium hyaluronate compared to botulinum toxin alone. Most published literature on the use of botulinum toxin in the treatment of strabismus consists of retrospective studies, cohort studies or case reviews. Although these provide useful descriptive information, clarification is required as to the effective use of botulinum toxin as an independent treatment modality. Six RCTs on the therapeutic use of botulinum toxin in strabismus, graded as low and very low-certainty evidence, have shown varying responses. These include a lack of evidence for effect of botulinum toxin on reducing visual symptoms in acute sixth nerve palsy, poor response in people with horizontal strabismus without binocular vision, similar or slightly reduced achievement of successful ocular alignment in children with esotropia and potential increased achievement of successful ocular alignment where surgery and botulinum toxin are combined. Further high quality trials using robust methodologies are required to compare the clinical and cost effectiveness of various forms of botulinum toxin (e.g. Dysport, Xeomin, etc), to compare botulinum toxin with and without adjuvant solutions and to compare botulinum toxin to alternative surgical interventions in strabismus cases with and without potential for binocular vision.

  16. Variabilidade fenotípica na síndrome do cromossomo supernumerário der(22t(11;22 (síndrome de Emanuel Phenotypical variability in supernumerary chromosome der(22t(11;22 syndrome (Emanuel syndrome

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    Rafael Fabiano M. Rosa

    2010-09-01

    hypotonia, neuropsychomotor delay, stereotypic movements, microcephaly, ptosis, prominent ears, preauricular pits with skin tag, and imperforate anus. Additional evaluations identified cerebral hypoplasia and pulmonar valvar stenosis. She also had laryngotracheomalacia and cleft palate. The second patient was a six months white boy with hypotonia, choreoatetotic movements, growth retardation, microcephaly, hemifacial microsomia, cleft palate, microtia, preauricular skin tags and thumbs proximally placed. Echocardiography disclosed pulmonary valvar stenosis, interatrial and ventricular septal defects, patent ductus arteriosus and persistence of left upper vein cava. Radiography study of thorax identified a cervical rib. GTG-Banding karyotype showed, in both patients, a supernumerary chromosome der(22t(11;22 secondary in the first case to a maternal balanced translocation and in the second one to a paternal translocation. COMMENTS: The first patient presented frequent features of ES, but the second one is the second description in the literature of a phenotype of oculo-auriculo-vertebral spectrum (OAVS. Thus, both patients highlight the clinical variability observed in ES and the importance of the karyotype analysis in patients with OAVS phenotype.

  17. Exploring the venom of the forest cobra snake: Toxicovenomics and antivenom profiling of Naja melanoleuca.

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    Lauridsen, Line P; Laustsen, Andreas H; Lomonte, Bruno; Gutiérrez, José María

    2017-01-06

    A toxicovenomic analysis of the venom of the forest cobra, N. melanoleuca, was performed, revealing the presence of a total of 52 proteins by proteomics analysis. The most abundant proteins belong to the three-finger toxins (3FTx) (57.1wt%), which includes post-synaptically acting α-neurotoxins. Phospholipases A 2 (PLA 2 ) were the second most abundant group of proteins (12.9wt%), followed by metalloproteinases (SVMPs) (9.7wt%), cysteine-rich secretory proteins (CRISPs) (7.6wt%), and Kunitz-type serine proteinase inhibitors (3.8wt%). A number of additional protein families comprised each <3wt% of venom proteins. A toxicity screening of the fractions, using the mouse lethality test, identified toxicity in RP-HPLC peaks 3, 4, 5 and 8, all of them containing α-neurotoxins of the 3FTx family, whereas the rest of the fractions did not show toxicity at a dose of 0.53mg/kg. Three polyspecific antivenoms manufactured in South Africa and India were tested for their immunoreactivity against crude venom and fractions of N. melanoleuca. Overall, antivenoms immunorecognized all fractions in the venom, the South African antivenom showing a higher titer against the neurotoxin-containing fractions. This toxicovenomic study identified the 3FTx group of α-neurotoxins in the venom of N. melanoleuca as the relevant targets to be neutralized. A toxicovenomic analysis of the venom of the forest cobra, also known as black cobra, Naja melanoleuca, was performed. Envenomings by this elapid species are characterized by a progressive descending paralysis which starts with palpebral ptosis and, in severe cases, ends up with respiratory arrest and death. A total of 52 different proteins were identified in this venom. The most abundant protein family was the three-finger toxin (3FTx) family, which comprises almost 57.1wt% of the venom, followed by phospholipases A 2 (PLA 2 ) (12.9wt%). In addition, several other protein families were identified in a much lower percentage in the venom. A

  18. Transplante de glândulas salivares labiais no tratamento do olho seco grave Transplantation of labial salivary glands for severe dry eye treatment

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    Eduardo Jorge Carneiro Soares

    2005-08-01

    glands, was transplanted to the previously prepared area in the conjunctival fornix. All procedures were recommended in severe dry-eye cases, that is, eyes with total or nearly total xerophthalmia. The preoperative and postoperative protocols are presented emphasizing the items which were used in the comparative analysis of the results as well as the technical description of the surgical procedure. RESULTS: The graft survival and integration into the host tissues were observed in 97.2% of the cases. The clinical improvement, demonstrated by the disappearance of the symptoms, better biomicroscopic aspect of the ocular surface, better vision and disuse of lubricant drops, was observed in 91.9% of the cases. The follow-up showed not only persistence but also stability of the results. Infection represented one case and ptosis represented three cases of the only four observed complications. CONCLUSION: The improvement of severe dry-eye cases detected after the transplantation of labial salivary glands is significant. It demonstrates that the lubricant ocular surface produced by the salivary secretion is efficient and well-tolerated. The follow-up shows that the result persists in the long term from which it is concluded that the production of the secretion is permanent. The surgical technique of transplanting the labial salivary gland to the conjunctival fornix is very simple and easily accessible to any ophthalmic surgeon.

  19. Recommendations for the management of cerebral and cerebellar infarction with swelling: a statement for healthcare professionals from the American Heart Association/American Stroke Association.

    Science.gov (United States)

    Wijdicks, Eelco F M; Sheth, Kevin N; Carter, Bob S; Greer, David M; Kasner, Scott E; Kimberly, W Taylor; Schwab, Stefan; Smith, Eric E; Tamargo, Rafael J; Wintermark, Max

    2014-04-01

    There are uncertainties surrounding the optimal management of patients with brain swelling after an ischemic stroke. Guidelines are needed on how to manage this major complication, how to provide the best comprehensive neurological and medical care, and how to best inform families facing complex decisions on surgical intervention in deteriorating patients. This scientific statement addresses the early approach to the patient with a swollen ischemic stroke in a cerebral or cerebellar hemisphere. The writing group used systematic literature reviews, references to published clinical and epidemiology studies, morbidity and mortality reports, clinical and public health guidelines, authoritative statements, personal files, and expert opinion to summarize existing evidence and to indicate gaps in current knowledge. The panel reviewed the most relevant articles on adults through computerized searches of the medical literature using MEDLINE, EMBASE, and Web of Science through March 2013. The evidence is organized within the context of the American Heart Association framework and is classified according to the joint American Heart Association/American College of Cardiology Foundation and supplementary American Heart Association Stroke Council methods of classifying the level of certainty and the class and level of evidence. The document underwent extensive American Heart Association internal peer review. Clinical criteria are available for hemispheric (involving the entire middle cerebral artery territory or more) and cerebellar (involving the posterior inferior cerebellar artery or superior cerebellar artery) swelling caused by ischemic infarction. Clinical signs that signify deterioration in swollen supratentorial hemispheric ischemic stroke include new or further impairment of consciousness, cerebral ptosis, and changes in pupillary size. In swollen cerebellar infarction, a decrease in level of consciousness occurs as a result of brainstem compression and therefore may

  20. Malignant Hyperthermia in Dental and Facial Plastic surgeries

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    Ramin Maheri

    2015-04-01

    Full Text Available Preoperative evaluation of the patients scheduled for ambulatory surgery is of great importance in regards of both surgery and anesthesia considerations. Malignant Hyperthermia (MH is a pharmacogenetic clinical syndrome which mostly arises from volatile anesthesia with halothane and the depolarizing muscle relaxant succinylcholine. Clinical manifestations of MH are acidosis and rhabdomyolysis which occur following uncontrolled increases in skeletal muscle metabolism and rapidly increasing body temperature (by as much as 1°C/5 min (1. Primary cases of MH were reported to be of a 70% mortality rate; however, thanks to the emergence of diagnostic tools such as end-expired carbon dioxide and the administration of dantrolene, this rate has decreased to less than 5%.      MH might occur even in those with no previous or familial history. Even a safe history of the previous surgery under the administration of MH triggering agents cannot guarantee a next safe surgery. A noteworthy point in the preoperative evaluation is the probable association of MH with certain musculoskeletal disorders including Duchenne, Becker, and myotonic muscular dystrophies, strabismus, osteogenesis imperfecta, ptosis, myelomeningocele, kyphoscoliosis, King-Denborough syndrome, periodic paralysis, hernias, marfanoid syndrome, and central core disease (1. These diseases are frequently encountered by dental and facial plastic surgeons and having the knowledge of the probable association between MH and these conditions could aware the dental and facial plastic surgeons and the anesthesiologists to be more vigilant.      Although MH workup leads to the definite diagnosis, no convincing intraoperative diagnostic tool has been introduced so far. Masseter spasm is a condition which might follow administration of depolarizing neuromuscular blocking agents due to the slow tonic fibers of masseter and lateral pterygoid muscles (2-4. The severer forms of masseter spasm would

  1. UTILIZATION OF THE THERAPY PHYSICAL IN HORSES WITH FACIAL PARALYSIS Trabajo del Fisioterapia en Cabalos con parálisis de la cara Emprego da Fisioterapia em Eqüinos com Paralisia Facial

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    Luís Antônio Franco SILVA

    2008-07-01

    Full Text Available Facial paralysis is an injury that assaults horses, not very unusual in veterinary. It occurs mainly because of direct or indirect traumas over the facial nerve, that goes over the masseter muscle, having only skin an tissue to protect it. Paralyses are common in cases of compression because of the contention of the animal head on the ground. This work reports the case of a PSI mare with four years, that was taken care of in the Veterinarian Hospital of the Veterinary School of the Federal University of Goiás, presenting signs of facial nerve injury; and a cart horse that was taken care at Racecourse of the Pond of Jockey Club of Goiás, with 10 years, debilitated and having facial habronemiasis. These animals received therapy physical, using cinesiotherapy and electrical stimulation, for 60 days, obtaining a satisfactory effect like improve of the left facial muscle, return to symmetrical the left nostril, discreet ptosis in the underling lip, normalization of the action to feed and improve of the facial esthetics. Concluding that therapy physical was a efficient method of treatment injuries in the facial nerve, like compression, helping in the return of the disturbs of muscle function and to the welfare of these animals.

     

    Key words: Animal, cinesiotherapy, electrical stimulation, neurology, rehabilitation.

    A paralisia facial, uma afecção que acomete eqüinos, é comum na medicina veterinária e decorre principalmente de traumatismos diretos ou indiretos sobre o nervo facial, que passa sobre o músculo masseter, contando apenas com a pele e o tecido subcutâneo para sua proteção. As paralisias têm origem na compressão causada pela contenção da cabeça do animal em decúbito lateral. Este trabalho relata dois casos de paralisia facial. Um deles é de uma égua PSI de quatro anos de idade, atendida no Hospital Veterinário da Escola

  2. Central nervous system paracoccidioidomycosis. Report of a case successfully treated with Itraconazol Paracoccidioidomicose do sistema nervoso central. Apresentação de um caso tratado com êxito com itraconazole

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    Luis A. VILLA

    2000-08-01

    Full Text Available Paracoccidioidomycosis (PCM is a primary pulmonary infection that often disseminates to other organs and systems. Involvement of the central nervous system (CNS is rare and due to the fact that both clinical alertness and establishment of the diagnosis are delayed, the disease progresses causing serious problems. We report here a case of neuroparacoccidioidomycosis (NPCM, observed in a 55 year-old male, who consulted due to neurological symptoms (left hemiparesis, paresthesias, right palpebral ptosis, headache, vomiting and tonic clonic seizures of a month duration. Upon physical examination, an ulcerated granulomatous lesion was observed in the abdomen. To confirm the diagnosis a stereotactic biopsy was taken; additionally, mycological tests from the ulcerated lesion and a bronchoalveolar lavage were performed. In the latter specimens, P. brasiliensis yeast cells were visualized and later on, the brain biopsy revealed the presence of the fungus. Treatment with itraconazole (ITZ was initiated but clinical improvement was unremarkable; due to the fact that the patient was taking sodium valproate for seizure control, drug interactions were suspected and confirmed by absence of ITZ plasma levels. The latter medication was changed to clonazepam and after several weeks, clinical improvement began to be noticed and was accompanied by diminishing P. brasiliensis antigen and antibody titers. In the PCM endemic areas, CNS involvement should be considered more often and the efficacy of itraconazole therapy should also be taken into consideration.A paracoccidioidomicose (PCM é infecção pulmonar primária que algumas vezes pode se disseminar a outros órgãos e sistemas. O envolvimento do sistema nervoso central (SNC é raro e devido ao fato que a alerta clínica e o estabelecimento do diagnóstico são tardios, a doença progride e o paciente piora. Aquí apresentamos caso de neuroparacoccidioidomicose (NPCM observada em homem de 55 anos de idade que

  3. [SUCLA2-related encephalomyopathic mitochondrial DNA depletion syndrome: a case report and review of literature].

    Science.gov (United States)

    Liu, Zhimei; Fang, Fang; Ding, Changhong; Wu, Husheng; Lyu, Junlan; Wu, Yun

    2014-11-01

    , dystonia or athetoid movements, feeding difficulties, growth retardation and ptosis or ophthalmoplegia. Epilepsy was occasionally observed. The combination of lactic acidemia, mild MMA-uria and increased C3-carnitine and C4-dicarboxylic-carnitine in plasma carnitine ester profiling were characteristic markers. MRI showed brain atrophy-like and bilateral basal ganglia involvement (mainly the putamen and caudate nuclei). Nineteen patients originated from Europe, with 13 of whom originated from Faroe Islands that carry a homozygous mutation (c.534+1G>A) in SUCLA2. SUCLA2-related encephalomyopathic MDS is characterized by onset of severe hypotonia in early infancy, feeding difficulties, growth retardation, psychomotor retardation and hearing impairment. Metabolic findings usually include lactic acidemia, mild MMA-uria and increased C3-carnitine and C4-dicarboxylic-carnitine in plasma carnitine ester profiling. MRI showed brain atrophy-like and bilateral basal ganglia involvement (mainly the putamen and caudate nuclei). SUCLA2 pathogenic mutations would confirm the diagnosis.

  4. Eye Injuries Among Primary School Children in Enugu, Nigeria: Rural vs Urban.

    Science.gov (United States)

    Okpala, Nonso Ejikeme; Umeh, Rich Enujioke; Onwasigwe, Ernest Nnemeka

    2015-01-01

    treatment, 58.16% of the children with an eye injury had no form of treatment for it. The children from this study with monocular blindness did not receive adequate medical treatment. Treatment of an eye injury, according to this study, was sought from chemists (19.39%), at hospital/health centers (16.33%), at home (3.06%), and from traditional healers (3.06%). The persons who treated an eye injury, as observed from this study, were doctors (14.29%), nurses (4.08%), chemists (17.35%), and traditional healers and fathers (3.06% each). The frequency of noninjury-related diagnosis made in this study was refractive error, 4.85%; allergic conjunctivitis, 1.94%; oculocutaneous albinism, 0.24%; prepapillary vascular loops, 0.40%; and then ptosis, exotropia, stye, corneal opacity, and retinitis pigmentosa, 0.08% each. The annual incidence of an eye injury according to this study was 3.48%. The majority of the causes of an eye injury, as per this study, were preventable. Appropriate promotion of preventive eye care among children may go a long way in reducing the burden of blindness from eye injuries.

  5. Clinical and pharmacological properties of incobotulinumtoxinA and its use in neurological disorders

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    Jost WH

    2015-04-01

    Full Text Available Wolfgang H Jost,1 Reiner Benecke,2 Dieter Hauschke,3 Joseph Jankovic,4 Petr Kaňovský,5 Peter Roggenkämper,6 David M Simpson,7 Cynthia L Comella81Department of Neurology, University of Freiburg, Freiburg, Germany; 2Clinic and Policlinic for Neurology, University of Rostock, Rostock, Germany; 3Institute of Medical Biometry and Medical Informatics, University of Freiburg, Freiburg, Germany; 4Department of Neurology, Baylor College of Medicine, Houston, TX, USA; 5Department of Neurology, Palacky University Olomouc, Faculty of Medicine and Dentistry and University Hospital, Olomouc, Czech Republic; 6University Eye Clinic of Bonn, Bonn, Germany; 7Icahn School of Medicine at Mount Sinai, New York, NY, USA; 8Rush University Medical Center, Chicago, IL, USABackground: IncobotulinumtoxinA (Xeomin® is a purified botulinum neurotoxin type A formulation, free from complexing proteins, with proven efficacy and good tolerability for the treatment of neurological conditions such as blepharospasm, cervical dystonia (CD, and post-stroke spasticity of the upper limb. This article provides a comprehensive overview of incobotulinumtoxinA based on randomized controlled trials and prospective clinical studies.Summary: IncobotulinumtoxinA provides clinical efficacy in treating blepharospasm, CD, and upper-limb post-stroke spasticity based on randomized, double-blind, placebo-controlled trials with open-label extension periods (total study duration up to 89 weeks. Adverse events were generally mild or moderate. The most frequent adverse events, probably related to the injections, included eyelid ptosis and dry eye in the treatment of blepharospasm, dysphagia, neck pain, and muscular weakness in patients with CD, and injection site pain and muscular weakness when used for treating spasticity. In blepharospasm and CD, incobotulinumtoxinA was investigated in clinical trials permitting flexible intertreatment intervals based on the individual patient’s clinical need

  6. Rejuvenecimiento facial en "doble sigma" "Double ogee" facial rejuvenation

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    O. M. Ramírez

    2007-03-01

    . Este arco conecta con la convexidad superior del tercio medio facial que se une con la concavidad de la porción inferior del tercio medio (arco inferior. Los paciente con un considerable envejecimiento y ptosis de las estructuras centrales faciales se pueden beneficiar en la mayoría de los casos de nuestro abordaje endoscópico. Las cejas, las comisuras de los párpados, de los tejidos blandos nasoglaberlares, los surcos nasolabiales, la nariz, las mejillas, el ángulo de la boca y los "jowls" (mejillas de bulldog se pueden tratar con eficacia mediante este abordaje. También las ojeras y los hundimientos orbitarios inferiores. Es eficaz también en ritidectomías secundarias o terciarias que requieren rejuvenecimiento cutáneo simultaneo y para cuando se precisa aumento de los tejidos blandos así como en las desproporciones esqueléticas y de los tejidos blandos. Las estructuras óseas expuestas pueden ser aumentadas o reducidas según convenga. Recomendamos este abordaje cuando hay que cambiar o extirpar implantes faciales aloplásticos. Los procedimientos endoscópicos de la frente y del tercio medio facial permiten la reconstrucción del "Doble Sigma" que se asocia a un aspecto juvenil.Subperiosteal techniques describes by Tessier have revolutionized the treatment of the aging face advocating this approach to treat early signs of aging in young and middleage patients. Psillakis refines the technique further and Ramirez describes a safer and more effective method of subperiosteal lifting, so that this technique could be applied across the full spectrum of facial aging. The introduction of the endoscope in the treatment of facial rejuvenation ushered in a new era in Aesthetic Surgery. Today, endoscopically assisted subperiosteal undermining of the upper, middle and lower face can provide a means for repositioning the sagging facial soft tissues in addition to augmentation of the craniofacial skeleton, with a reduced preoperative facial edema, minimal injury to the

  7. Rompiendo paradigmas: reducción mamaria vía axilar Quebra de paradigma: redução mamária axilar Breaking paradygms: axillary reduction mammoplasty

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    Y. Felicio

    2012-12-01

    Full Text Available Presentamos un estudio sobre cirugía de reducción mamaria por vía axilar realizado entre marzo de 1993 y marzo del 2012 destinado a probar la eficacia de un método que además de reducir la mama, resulta más económico que los convencionales, precisa de menor tiempo operatorio, y evita perder tiempo en cálculos matemáticos complejos para determinar la cantidad de tejido a resecar. La resección de tejido mamario y graso se hace manteniendo la porción central de la mama y el complejo areola-pezón (CAP y, de acuerdo a cada caso, se favorece la retracción areolar en función de la cantidad de tejido resecado y de las fibras elásticas presentes en la mama, sin ninguna cirugía sobre la areola. Estudiamos un total de 500 mamas operadas de reducción mamaria vía axilar con edades entre 16 y 58 años. Las intervenciones realizadas fueron en un 66 % por hipertrofia mamaria, 15 % por ptosis, 10 % por asimetría, 8 % por mastopexia asociada a implantes de silicona y 1 % por resección tumoral asociada a reducción mamaria. La cantidad de tejido mamario resecado osciló entre 50 y 1.500 gr., correspondiendo el mayor porcentaje de casos, 35 % , al grupo de entre 200-300 gr. de resección. El índice de complicaciones fue del 3,4 % , bajo en comparación con el que se presenta en técnicas convencionales (estadística personal. En 500 mamas operadas encontramos 17 complicaciones: 6 queloides y 6 cicatrices hipertróficas tras seromas que fueron drenados diariamente durante una media de 15 días; 3 hematomas y 2 casos de hipersensibilidad en uno de los brazos (uno derecho y otro izquierdo que cedieron en 30 días con cuidados físicos y fisioterapia. Como media, tras una periodo de 6 meses, la mayoría de las pacientes mostraron clara satisfacción con los resultados. Desde hace cuatro décadas la mayoría de los cirujanos plásticos emplean técnicas de reducción mamaria que producen una, dos o tres cicatrices en la mama y muchas mujeres evitan

  8. Eye Injuries among Primary School Children in Enugu, Nigeria: Rural vs Urban

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    Nonso Ejikeme Okpala

    2015-01-01

    (2.04%, siblings (2.04%, and others (1.02%. The primary agents that caused an eye injury were sticks/wood, 29 (29.60%; stone, 21 (21.43%; pieces of metal, 19 (19.39%; fall, 10 (10.20%; fight/fist blow, 9 (9.918%; plastic, 2 (2.04%; fingernails, 2 (2.04%; farm tools/fruits, 2 (2.04%; and RTA, glass, and headbutt, each 1.02%. Farm implements/fruits as well as fingernails appear to be fairly common primary agents that cause an eye injury in the rural Enugu, Nigeria. In terms of prevalence, there was no significant difference between the urban and rural areas. The findings from this study showed a high prevalence of eye injury among primary school children. In terms of treatment, 58.16% of the children with an eye injury had no form of treatment for it. The children from this study with monocular blindness did not receive adequate medical treatment. Treatment of an eye injury, according to this study, was sought from chemists (19.39%, at hospital/health centers (16.33%, at home (3.06%, and from traditional healers (3.06%. The persons who treated an eye injury, as observed from this study, were doctors (14.29%, nurses (4.08%, chemists (17.35%, and traditional healers and fathers (3.06% each. The frequency of noninjury-related diagnosis made in this study was refractive error, 4.85%; allergic conjunctivitis, 1.94%; oculocutaneous albinism, 0.24%; prepapillary vascular loops, 0.40%; and then ptosis, exotropia, stye, corneal opacity, and retinitis pigmentosa, 0.08% each. The annual incidence of an eye injury according to this study was 3.48%. The majority of the causes of an eye injury, as per this study, were preventable. Appropriate promotion of preventive eye care among children may go a long way in reducing the burden of blindness from eye injuries.

  9. Study of crotoxin on the induction of paralysis in extraocular muscle in animal model Estudo da crotoxina na indução de paralisia da musculatura extraocular em modelo animal

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    Geraldo de Barros Ribeiro

    2012-10-01

    Full Text Available PURPOSE: Crotoxin is the major toxin of the venom of the South American rattlesnake Crotalus durissus terrificus, capable of causing a blockade of the neurotransmitters at the neuromuscular junction. The objective of this study was to appraise the action and effectiveness of the crotoxin induced paralysis of the extraocular muscle and to compare its effects with the botulinum toxin type A (BT-A. METHODS: The crotoxin, with LD50 of 1.5 µg, was injected into the superior rectus muscle in ten New Zealand rabbits. The concentration variance was 0.015 up to 150 µg. Two rabbits received 2 units of botulinum toxin type A for comparative analysis. The evaluation of the paralysis was performed using serial electromyography. After the functional recovery of the muscles, which occurred after two months, six rabbits were sacrificed for anatomopathology study. RESULTS: The animals did not show any evidence of systemic toxicity. Transitory ptosis was observed in almost every animal and remained up to fourteen days. These toxins caused immediate blockade of the electrical potentials. The recovery was gradual in the average of one month with regeneration signs evident on the electromyography. The paralysis effect of the crotoxin on the muscle was proportional to its concentration. The changes with 1.5 µg crotoxin were similar to those produced by the botulinum toxin type A. The histopathology findings were localized to the site of the injection. No signs of muscle fiber's necrosis were seen in any sample. The alterations induced by crotoxin were also proportional to the concentration and similar to botulinum toxin type A in concentration of 1.5 µg. CONCLUSION: Crotoxin was able to induce transitory paralysis of the superior rectus muscle. This effect was characterized by reduction of action potentials and non-specific signs of fibrillation. Crotoxin, in concentration of 1.5 µg was able to induce similar effects as botulinum toxin type A.OBJETIVO: A

  10. Snakebites by Crotalus durissus ssp in children in Campinas, São Paulo, Brazil Acidentes por serpentes Crotalus durisssus ssp em crianças em Campinas, São Paulo, Brasil

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    Fábio BUCARETCHI

    2002-01-01

    Full Text Available From January, 1984 to March, 1999, 31 children under 15 y old (ages 1-14 y, median 8 y were admitted after being bitten by rattlesnakes (Crotalus durissus ssp. One patient was classified as "dry-bite", 3 as mild envenoming, 9 as moderate envenoming and 18 as severe envenoming. Most patients had neuromuscular manifestations, such as palpebral ptosis (27/31, myalgia (23/31 and weakness (20/31. Laboratory tests suggesting rhabdomyolysis included an increase in total blood creatine kinase (CK, 28/29 and lactate dehydrogenase (LDH, 25/25 levels and myoglobinuria (14/15. The main local signs and symptoms were slight edema (20/31 and erythema (19/31. Before antivenom (AV administration, blood coagulation disorders were observed in 20/25 children that received AV only at our hospital (incoagulable blood in 17/25. AV early reactions were observed in 20 of these 25 cases (9/9 patients not pretreated and 11/16 patients pretreated with hydrocortisone and histamine H1 and H2 antagonists. There were no significant differences in the frequency of patients with AV early reactions between the groups that were and were not pretreated (Fisher's exact test, p = 0.12. Patients admitted less than and more than 6 h after the bite showed the same risk of developing severe envenoming (Fisher's exact test, p = 1. No children of the first group (De janeiro de 1984 a março de 1999, 31 crianças com menos de 15 anos de idade (1 a 14 anos, mediana = 8 anos foram admitidas após terem sido picadas por Crotalus durissus ssp. Uma criança não apresentou manifestações clínicas de envenenamento, enquanto 3 foram classificadas como acidente leve, 9 como moderado e 18 como grave. A maioria das crianças apresentou envolvimento neuromuscular, tais como ptose palpebral (27/31, mialgia (23/31 e fraqueza (20/31. Alterações laboratoriais sugerindo rabdomiólise também foram observadas, como aumento das enzimas séricas CK (28/29 e LDH (25/25 e mioglobinúria (14/15. As

  11. Toxina botulínica no blefaroespasmo, no espasmo hemifacial e na distonia cervical: resultados em 33 pacientes Botulinum toxin in blepharospasm, hemifacial spasm and cervical dystonia: results in 33 patients

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    Sérgio Ap. Novis

    1995-09-01

    of the dystonic movements, before and two weeks after each injection. Among blepharospasm patients, eight were female and four were male; the mean age was 57.7 years; the mean time of the disease duration was four years. Three had familial history for similar disease; nine were essential and three had used neuroleptic drugs (tardive dystonia. The mean dose used was 51.3 U, with a mean time of benefical effects of 2.8 months. For 22 injections and reinjections, 14 (63.7% showed an excellent result, five (22.7% good and three (13.6% null. In the hemifacial spasm group, eight were female and two male; the mean age was 52.6 years; the mean time of the disease duration was 7.4 years; eight were essential and two post-paralytic. The mean dose used was 32 U. From the total of 15 injections and reinjections, all of them (100% had an excellent result, with a mean time of benefical effect of 3.4 months. Among the cervical dystonic patients, eight were male and three female; the mean age was 44.2 years; the mean time of the disease duration was 12.2 years; six had essential dystonia, three had used neuroleptic drugs and two had familial history for similar disease. The mean dose used was 238.6 U, with the mean duration of effect of 3.5 months. From the total of 20 injections and reinjections, 18 (90% had good result, one (5% mild and one (5% null. Ptosis, facial palsy and dysphagia were the most common side effects seen. We conclude that botulinum toxin is effective for the treatment of such disorders.

  12. Intoxicações natural e experimental por amitraz em eqüídeos: aspectos clínicos Natural and experimental poisoning by amitraz in horses and donkey: clinical aspects

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    Marcos Dutra Duarte

    2003-09-01

    were recumbency, somnolence, palpebral and auricular ptosis, difficulties in apprehension, chewing and swallowing of food, dragging of the hooves, exposure of the penis, diminished or absent cutaneous sensibility, instability, abduction of the legs, lowering of the head, incoordination, jawning, labial flacity, exposure of the tongue, crossing of the legs when walking, diminished postural response after crossing or abducting the legs, diminished/absent reflex of the upper lip, palatal, tongue, flexor and swallowing reflex, diminished auricular, palpebral and menace reflex. The ambulatory response was diminished when tested by walking in circles of small radius. Regarding the digestive system, the signs were mainly intestinal hypomotility/atony, edema of the lips, abdominal distention, frequent lying down and standing up, rolling on the ground, looking at the flancs, groaning and impaction of the large bowel. Regarding the circulatory system, the main clinical signs were tachycardia, increase of the refilling time of capillaries, congested mucosa and splitting of the cardiac sounds. Regarding the respiratory system, stridor, tachypnoea, dyspnoea, nasal discharge, bradypnoea and abdominal respiration was observed. Beside these signs, there were alterations of the general condition, as apathy and hypothermia. All natural cases occurred after spraying with amitraz. First symptoms were seen 2 to 3 days after the application of amitraz. The course was 6, 7 and 17 days. One animal showed mainly the nervous signs as seen in the experiments, with exception of the signs of crossing the legs when walking, yawning and exposure of the penis. Another animal had only digestive symptoms as rolling, pawing, intestinal hypomotility/atony and impaction of the large bowel. A third animal initially showed digestive symptoms characterized by pawing, rolling, intestinal atony and impaction of the large bowel, followed by laminitis; in the final stage this animal showed severe nervous signs

  13. Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

    Science.gov (United States)

    2017-09-28

    Rare Disorders; Undiagnosed Disorders; Disorders of Unknown Prevalence; Cornelia De Lange Syndrome; Prenatal Benign Hypophosphatasia; Perinatal Lethal Hypophosphatasia; Odontohypophosphatasia; Adult Hypophosphatasia; Childhood-onset Hypophosphatasia; Infantile Hypophosphatasia; Hypophosphatasia; Kabuki Syndrome; Bohring-Opitz Syndrome; Narcolepsy Without Cataplexy; Narcolepsy-cataplexy; Hypersomnolence Disorder; Idiopathic Hypersomnia Without Long Sleep Time; Idiopathic Hypersomnia With Long Sleep Time; Idiopathic Hypersomnia; Kleine-Levin Syndrome; Kawasaki Disease; Leiomyosarcoma; Leiomyosarcoma of the Corpus Uteri; Leiomyosarcoma of the Cervix Uteri; Leiomyosarcoma of Small Intestine; Acquired Myasthenia Gravis; Addison Disease; Hyperacusis (Hyperacousis); Juvenile Myasthenia Gravis; Transient Neonatal Myasthenia Gravis; Williams Syndrome; Lyme Disease; Myasthenia Gravis; Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome); Isolated Klippel-Feil Syndrome; Frasier Syndrome; Denys-Drash Syndrome; Beckwith-Wiedemann Syndrome; Emanuel Syndrome; Isolated Aniridia; Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11; Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15; Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/Inversion; Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication; Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion; Axenfeld-Rieger Syndrome; Aniridia-intellectual Disability Syndrome; Aniridia - Renal Agenesis - Psychomotor Retardation; Aniridia - Ptosis - Intellectual Disability - Familial Obesity; Aniridia - Cerebellar Ataxia - Intellectual Disability; Aniridia - Absent Patella; Aniridia; Peters Anomaly - Cataract; Peters Anomaly; Potocki-Shaffer Syndrome; Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11; Silver-Russell Syndrome Due to Imprinting Defect of 11p15; Silver-Russell Syndrome Due to 11p15 Microduplication; Syndromic Aniridia; WAGR Syndrome; Wolf