Sample records for bleb naevus syndrome

  1. Blue rubber bleb naevus syndrome: A rare cause of gastrointestinal ...

    African Journals Online (AJOL)

    Blue rubber bleb naevus syndrome (BRBNS) is characterised by vascular malformations of the skin and gastrointestinal tract. We present the rare case of BRBNS in an African child. She presented with large-volume gastrointestinal bleeding and was managed by on-table colonoscopic identification and surgical excision, ...

  2. The value of double balloon enteroscopy in diagnosing blue rubber bleb naevus syndrome: a case report.

    LENUS (Irish Health Repository)

    O'Kelly, Fardod


    Blue rubber bleb naevus syndrome is a rare vascular disorder associated with multiple gastrointestinal haemangiomas that have the potential for life-threatening haemorrhage. These may be difficult to diagnose, and have classically been described using computed tomographic studies and\\/or mesenteric angiography. Resected surgical specimens of these lesions, especially in the small bowel, have often been extensive and poorly localized. The recent advent and progressive development of double balloon enteroscopy has allowed the direct visualization and marking of these enteric lesions and serves as a valuable adjunct not only in diagnosis but also planning prior to surgery to allow accurate estimate of the extent of resection.

  3. Blue rubber bleb nevus syndrome

    Directory of Open Access Journals (Sweden)

    Rodrigues Daleth


    Full Text Available The blue rubber nevus syndrome consists of multiple venous malformations in the skin and gastrointestinal tract associated with intestinal hemorrhage and iron deficiency anemia. Other organs may be involved. The causes of this syndrome are unknown. Its most common presentation is in the form of sporadic cases, but dominant autosomal inheritance has been described. It is a condition that affects both sexes equally, and its occurrence is rare in the black race. We present a case of this syndrome diagnosed in a 11-year-old patient. He had severe anemia and a venous swelling on the trunk. Similar lesions were found in the stomach, bowel, and on his foot. We emphasize the main clinical aspects: intestine, eyes, nasopharynx, parotids, lungs, liver, spleen, heart, brain, pleura, peritoneum, pericardium, skeletal muscles, bladder, and penis lesions, systemic complications that may occur to these patients which are thrombosis and calcification, as well as consumptive coagulopathy and thrombocytopenia that may occur within the nevi.

  4. Blue rubber bleb nevus syndrome coexisted with intestinal ...

    African Journals Online (AJOL)

    Blue Rubber Bleb Nevus Syndrome (BRBNS) is an uncommon congenital disorder characterized by sporadic venous malformation which mainly occurs in skin and alimentary canal. Here, we report a BRBNS patient with concomitant intestinal intussusception who diagnosed by intraoperative endoscopy and ultimately ...

  5. Severe Blue Rubber Bleb Nevus Syndrome in a Neonate

    DEFF Research Database (Denmark)

    Hansen, L; Wewer, V; Pedersen, S


    We report on a child with blue rubber bleb nevus syndrome (BRBNS) presenting during the first days of life with severe bleeding from the upper gastrointestinal tract. Medical treatment with methylprednisolone, cyklokapron, interferon 1 alpha and numerous blood transfusions were given to control...... bleeding during the first 3 years of life. Afterwards repeated endoscopic electrocoagulations were performed over a period of one year resulting in a termination of bleeding episodes. At ten years of age the patient developed spastic diplegia with slight walking disabilities, coordination and fine motor...

  6. Blue rubber bleb nevus syndrome: case report Síndrome do blue rubber bleb nevus: relato de caso

    Directory of Open Access Journals (Sweden)

    Magaly Gemio Teixeira


    Full Text Available The case of a patient with blue rubber bleb nevus syndrome who is infected by acquired immunodeficiency syndrome virus due to multiple blood transfusions is presented. This case shows that although it is a rare systemic disorder, blue rubber bleb nevus syndrome has to be considered in the differential diagnosis of chronic anemia or gastrointestinal bleeding. Patients should be investigated by endoscopy, which is the most reliable method for detecting these lesions. The patient underwent gastroscopy and enteroscopy via enterotomy with identification of all lesions. Minimal resection of the larger lesions and string-purse suture of the smaller ones involving all the layers of the intestine were performed. The string-purse suture of the lesions detected by enteroscopy proved to be an effective technique for handling these lesions, avoiding extensive intestinal resection and stopping the bleeding. Effective management of these patients demands aggressive treatment and should be initiated as soon as possible to avoid risks involved in blood transfusions, as occurred in this case.É descrito um caso da síndrome do blue rubber bleb nevus associada a infecção pelo vírus da imunodeficiência adquirida em conseqüência de múltiplas transfusões de sangue. Este caso demonstra que, embora rara, esta síndrome deva ser considerada no diagnóstico diferencial da anemia crônica ou sangramento gastrointestinal. O melhor método diagnóstico é a endoscopia. A doente foi operada e submetida a esofagogastroduodenoscopia e endoscopia através de enterotomia com identificação de todas as lesões que foram tratadas, as maiores, por ressecção mínima e as demais por sutura em bolsa ao redor do nevo interessando toda a parede intestinal. A sutura em bolsa das lesões detectadas por enteroscopia demonstrou ser uma técnica efetiva no tratamento destas lesões, evitando assim ressecções intestinais extensas e parando o sangramento. O manuseio destes doentes

  7. Circumferential ′ Woolly Hair Naevus

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    Thadeus J


    Full Text Available Woolly hair naevus presents as a circumscribed area of tightly coiled hair since birth, in an individual of non-negroid origin. We report a 10 year old boy of Indian origin who presented with woolly hair in the periphery of the scalp and normal straight hair in the center-mimicking a straight hair naevus.

  8. Melanoma development in relation to non-functional p16/INK4A protein and dysplastic naevus syndrome in Swedish melanoma kindreds. (United States)

    Hashemi, J; Linder, S; Platz, A; Hansson, J


    The CDKN2A gene encodes the cell cycle inhibitor p16/ INK4A, which is involved in familial cutaneous melanoma. We have studied five Swedish familial melanoma kindreds characterized by germline mutations in CDKN2A and dysplastic naevus syndrome (DNS). We found significant correlations between germline CDKN2A mutations and melanoma and between DNS phenotype and melanoma, respectively. There was also a correlation between mutation status and the presence of DNS. In CDKN2A mutation carriers, all cases of early-onset melanoma occurred in DNS individuals, and the mean age at melanoma diagnosis was significantly lower in individuals with DNS than in those without a confirmed DNS phenotype. In one family where the proband had a P48L mutation in CDKN2A exon 1, the DNS phenotype was studied in detail. In vitro binding experiments established that the P48L mutant protein does not bind to cdk4 or cdk6 and thus is functionally abnormal. Furthermore, we demonstrated loss of heterozygosity at markers on chromosome 9p flanking the CDKN2A locus in a primary melanoma and a metastasis from the proband. Our results are consistent with the hypothesis that germline CDKN2A mutations and DNS both contribute to the predisposition to melanoma and may lead to the development of early-onset melanoma when present in the same individual.

  9. Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome. (United States)

    Patel, Nisha; Khan, Arif O; Mansour, Ahmad; Mohamed, Jawahir Y; Al-Assiri, Abdullah; Haddad, Randa; Jia, Xiaofei; Xiong, Yong; Mégarbané, André; Traboulsi, Elias I; Alkuraya, Fowzan S


    We have previously described a syndrome characterized by facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs (FDLAB, or Traboulsi syndrome). In view of the consanguineous nature of the affected families and the likely autosomal-recessive inheritance pattern of this syndrome, we undertook autozygosity mapping and whole-exome sequencing to identify ASPH as the disease locus, in which we identified two homozygous mutations. ASPH encodes aspartyl/asparaginyl β-hydroxylase (ASPH), which has been found to hydroxylate aspartic acid and asparagine residues on epidermal growth factor (EGF)-domain-containing proteins. The truncating and missense mutations we identified are predicted to severely impair the enzymatic function of ASPH, which suggests a possible link to other forms of ectopia lentis given that many of the genes implicated in this phenotype encode proteins that harbor EGF domains. Developmental analysis of Asph revealed an expression pattern consistent with the proposed link to the human syndrome. Indeed, Asph-knockout mice had a foreshortened snout, which corresponds to the facial abnormalities in individuals with Traboulsi syndrome. These data support a genetic basis for a syndromic form of ectopia lentis and the role of aspartyl hydroxylation in human development. Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  10. Proteus syndrome

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    George Renu


    Full Text Available A case of proteus syndrome in a 20 year old male is repoted. Hemihypertrophy, asymmetric megalodactyly, linear epidermal naevus, naevus flammeus, angiokeratoma, lymphangioma circumscriptum, thickening of the palms and soles, scoliosis and varicose veins were present. There are only few reports of these cases in adults. The syndrome has not been reported from India.

  11. Long-term observation of an organoid naevus phakomatosis

    Energy Technology Data Exchange (ETDEWEB)

    Schimmelpenning, G.W.


    The course of an organoid naevus phakomatosis (Schimmelpenning-Feuerstein-Mims syndrome) was observed in one patient over 25 years. Although the syndrome was fully developed, it has so far remained relatively benign, without limiting the patient's ability to work. During the course of the disease various investigations were carried out (CT, brain scintigrams, chromosome analysis). These confirm that the out-standing feature consisting of fibrous bone dysplasia of the skull continues to progress into adult life. In addition, the presence of intracerebral calcification could be demonstrated. Examination of the chromosomes suggests that further similar cases should also be examined, since the aetiology and pathogenesis of this phakomatosis are still unknown.

  12. Three mechanical models for blebbing and multi-blebbing

    KAUST Repository

    Woolley, T. E.


    Membrane protrusions known as blebs play important roles in many cellular phenomena. Here we present three mathematical models of the bleb formation, which use biological insights to produce phenotypically accurate pressure-driven expansions. First, we introduce a recently suggested solid mechanics framework that is able to create blebs through stretching the membrane. This framework is then extended to include reference state reconfigurations, which models membrane growth. Finally, the stretching and reconfiguring mechanical models are compared with a much simpler geometrically constrained solution. This allows us to demonstrate that simpler systems are able to capture much of the biological complexity despite more restrictive assumptions. Moreover, the simplicity of the spherical model allows us to consider multiple blebs in a tractable framework. © 2014 The authors 2014. Published by Oxford University Press on behalf of the Institute of Mathematics and its Applications. All rights reserved.

  13. Cutaneous malignant melanoma arising in an acquired naevus of Ota. (United States)

    Patterson, Clare R S; Acland, Katharine; Khooshabeh, Ramona


    Naevus of Ota is a dermal melanocytosis most commonly found in black or Asian skin and is usually a benign malformation, but with a low risk of melanoma. We describe a 32-year-old Caucasian man with an acquired naevus of Ota with subtle pigmentation, in which a melanocytic papule developed. The lesion, deceptively, had no clinically suspicious features, but investigation revealed an aggressive cutaneous malignant melanoma, extensive orbital ring melanocytosis and metastatic brain and subsequent liver disease.

  14. Hypopigmented pityriasis versicolor on Becker′s naevus : Hope for new method of treatment ?

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    Singal Archana


    Full Text Available A case of hypopigmented pityriasis versicolor superimposed on pre existing Becker′s naevus associated with congenital melanocytic naevus is being reported for its rarity. The possible role of dicarboxylic acid and other free radicles produced by Pityrosporum ovale in treating Becker′s Naevus is also suggested.

  15. Dysplastic naevus: histological criteria and their inter-observer reproducibility. (United States)

    Hastrup, N; Clemmensen, O J; Spaun, E; Søndergaard, K


    Forty melanocytic lesions were examined in a pilot study, which was followed by a final series of 100 consecutive melanocytic lesions, in order to evaluate the inter-observer reproducibility of the histological criteria proposed for the dysplastic naevus. The specimens were examined in a blind fashion by four observers. Analysis by kappa statistics showed poor reproducibility of nuclear features, while reproducibility of architectural features was acceptable, improving in the final series. Consequently, we cannot apply the combined criteria of cytological and architectural features with any confidence in the diagnosis of dysplastic naevus, and, until further studies have documented that architectural criteria alone will suffice in the diagnosis of dysplastic naevus, we, as pathologists, shall avoid this term.

  16. Bleb Revision With Temporalis Fascia Autograft. (United States)

    Qu-Knafo, Lise; Le Du, Brivael; Boumendil, Julien; Nordmann, Jean-Philippe


    We report the first description of temporalis fascia autograft to repair a late leakage bleb with scleral defect that occurred long time after trabeculectomy with mitomycin C. A 65-year-old woman was referred to our hospital with chronic late bleb leakage on her right eye. She had previously undergone a trabeculectomy with mitomycin C 3 years ago for a pigmentary glaucoma. Bleb leakage occurred 1½ year after the initial surgery. She underwent 2 surgical revisions consisting of a conjunctival advancement then an autologous conjunctival with partial scleral grafts without success. The initial best-corrected visual acuity of the right eye was 20/50 (Snellen scale). Slit-lamp examination revealed an avascular filtering bleb with leakage (massive positive Seidel test) and a scleral defect. The anterior chamber was deep and intraocular pressure (IOP) was 9 mm Hg.Faced with the risk of blebitis, endophthalmitis, and with the failure of the previous surgeries announced earlier, a surgical revision with autologous superficial temporalis fascia graft was decided to repair the leaking bleb. After local anesthesia, a sample of superficial temporalis fascia was harvested. The necrotic avascular conjunctiva around the bleb was dissected to separate and excise it from the sclera. The autologous fascia graft was sutured on the scleral defect with 10-0 nylon. Subsequently healthy conjunctiva was sutured above the graft. No bleb leakage occurred postoperatively, best-corrected visual acuity improved to 20/25, and IOP remained within normal levels 6 months after surgery without IOP-lowering medication. Superficial temporalis fascia autograft seems to be an effective, safe, and easy technique for ophthalmologists. It is a new procedure in the management of late-onset bleb leakage.

  17. Nodular melanoma is less likely than superficial spreading melanoma to be histologically associated with a naevus. (United States)

    Pan, Yan; Adler, Nikki R; Wolfe, Rory; McLean, Catriona A; Kelly, John W


    To determine the frequency of naevus-associated melanoma among superficial spreading and nodular subtypes; and to investigate associations between naevus-associated melanoma and other clinico-pathological characteristics. Cross-sectional study of all patients with nodular and superficial spreading melanomas diagnosed between 1994 and 2015 at the Victorian Melanoma Service, Melbourne. Clinical and pathological characteristics of naevus-associated and de novo melanomas were assessed in univariable and multivariable logistic regression analyses. Of 3678 primary melanomas, 1360 (37.0%) were histologically associated with a naevus and 2318 (63.0%) were de novo melanomas; 71 of 621 nodular (11.4%) and 1289 of 3057 superficial spreading melanomas (42.2%) were histologically associated with a naevus. In multivariable analyses, the odds of being associated with a naevus were higher for melanomas located on the trunk (v head and neck: adjusted odds ratio [OR], 2.27; 95% CI, 1.73-2.96; P melanomas (adjusted OR, 0.68; 95% CI, 0.48-0.97; P = 0.035), and older age (patients 70 years or older v patients under 30 at diagnosis: adjusted OR, 0.28; 95% CI, 0.20-0.40; P melanomas as for nodular melanomas (adjusted OR, 3.05; 95% CI, 2.24-4.17; P Melanomas are most likely to arise in the absence of a pre-existing naevus, particularly nodular melanomas. Public health campaigns should therefore emphasise the detection of suspicious de novo lesions, as well as of changing lesions.

  18. Hemodynamics before and after bleb formation in cerebral aneurysms (United States)

    Cebral, Juan R.; Radaelli, Alessandro; Frangi, Alejandro; Putman, Christopher M.


    We investigate whether blebs in cerebral aneurysms form in regions of low or high wall shear stress (WSS), and how the intraaneurysmal hemodynamic pattern changes after bleb formation. Seven intracranial aneurysms harboring well defined blebs were selected from our database and subject-specific computational models were constructed from 3D rotational angiography. For each patient, a second anatomical model representing the aneurysm before bleb formation was constructed by smoothing out the bleb. Computational fluid dynamics simulations were performed under pulsatile flow conditions for both models of each aneurysm. In six of the seven aneurysms, the blebs formed in a region of elevated WSS associated to the inflow jet impaction zone. In one, the bleb formed in a region of low WSS associated to the outflow zone. In this case, the inflow jet maintained a fairly concentrated structure all the way to the outflow zone, while in the other six aneurysms it dispersed after impacting the aneurysm wall. In all aneurysms, once the blebs formed, new flow recirculation regions were formed inside the blebs and the blebs progressed to a state of low WSS. Assuming that blebs form due to a focally damaged arterial wall, these results seem to indicate that the localized injury of the vessel wall may be caused by elevated WSS associated with the inflow jet. However, the final shape of the aneurysm is probably also influenced by the peri-aneurysmal environment that can provide extra structural support via contact with structures such as bone or dura matter.

  19. Bleb incarceration following Ahmed valve surgery

    Directory of Open Access Journals (Sweden)

    Gross FJ


    Full Text Available Fredric J Gross, Giovanni DiSandro Department of Ophthalmology, Eastern Virginia Medical School, Norfolk, VA, USA Abstract: Globe luxation is a painful and potentially vision-threatening condition in which the globe becomes trapped behind the eyelids requiring physician intervention in the emergency department or eye clinic. On presentation, the patient typically complains of an inability to close their eye, severe foreign body sensation, decreased vision, and significant eye pain. Although most visual symptoms are reversible and primarily result from exposure keratopathy, optic nerve damage, and permanent vision loss can occur from repeat or prolonged episodes of globe luxation. Risk factors include any congenital or acquired conditions that displace the globe anteriorly in the orbit and increased eyelid laxity that allows the globe to prolapse through the lid aperture. Typically, the precipitating event involves eyelid retraction during ophthalmic examination or an event that increases intraorbital pressure such as coughing or sneezing. Once the globe has luxated, the condition is typically worsened by blepharospasm and patients’ attempts to close the eye that worsen the entrapment. In the current case, the patient had a large superotemporal filtering bleb following Ahmed valve surgery for uncontrolled glaucoma. While instilling her glaucoma medication, she retracted her eyelids sufficiently to pull the upper lid over her filtering bleb where it became entrapped causing a similar presentation to globe luxation. Traditional methods of repositioning the globe were unsuccessful. Bleb needling was ultimately required to return the globe to a normal position. Keywords: luxation, globe, glaucoma

  20. Bleb Point: Mimicker of Pneumothorax in Bullous Lung Disease

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    Gelabert, Christopher


    Full Text Available In patients presenting with severe dyspnea, several diagnostic challenges arise in distinguishing the diagnosis of pneumothorax versus several other pulmonary etiologies like bullous lung disease, pneumonia, interstitial lung disease, and acute respiratory distress syndrome. Distinguishing between large pulmonary bullae and pneumothorax is of the utmost importance, as the acute management is very different. While multiple imaging modalities are available, plain radiographs may be inadequate to make the diagnosis and other advanced imaging may be difficult to obtain. Ultrasound has a very high specificity for pneumothorax. We present a case where a large pulmonary bleb mimics the lung point and therefore inaccurately suggests pneumothorax. [West J Emerg Med. 2015;16(3:447–449.

  1. Cellular blebs: pressure-driven, axisymmetric, membrane protrusions

    KAUST Repository

    Woolley, Thomas E.


    Blebs are cellular protrusions that are used by cells for multiple purposes including locomotion. A mechanical model for the problem of pressure-driven blebs based on force and moment balances of an axisymmetric shell model is proposed. The formation of a bleb is initiated by weakening the shell over a small region, and the deformation of the cellular membrane from the cortex is obtained during inflation. However, simply weakening the shell leads to an area increase of more than 4 %, which is physically unrealistic. Thus, the model is extended to include a reconfiguration process that allows large blebs to form with small increases in area. It is observed that both geometric and biomechanical constraints are important in this process. In particular, it is shown that although blebs are driven by a pressure difference across the cellular membrane, it is not the limiting factor in determining bleb size. © 2013 Springer-Verlag Berlin Heidelberg.

  2. Rescue of failed filtering blebs with ab interno trephination. (United States)

    Shihadeh, Wisam A; Ritch, Robert; Liebmann, Jeffrey M


    We evaluated the effectiveness of ab interno automated trephination as a technique for rescuing failed mature filtering blebs. A retrospective chart review of 40 failed blebs of 38 patients who had a posttrephination follow-up period of at least 3 months was done. With success defined as intraocular pressure (IOP) control with other modalities of management. Complications were few. We believe that ab interno trephination is an excellent option for rescuing selected failed filtering blebs.

  3. Fluorescence in situ hybridization for the differential diagnosis between Spitz naevus and spitzoid melanoma. (United States)

    Requena, Celia; Rubio, Luis; Traves, Victor; Sanmartín, Onofre; Nagore, Eduardo; Llombart, Beatriz; Serra, Carlos; Fernández-Serra, Antonio; Botella, Rafael; Guillén, Carlos


    The differential diagnosis between Spitz naevus and spitzoid melanoma can be extremely difficult, or even impossible. In recent years, many attempts have been made to find specific histopathological or immunohistochemical markers, although none has proved successful. Because the prognosis and treatment of each are very different, it is important to distinguish between these entities. We evaluated the ability of the fluorescence in situ hybridization (FISH) assay-designed to detect the copy number of the RREB1 (6p25), MYB (6q23) and CCND1 (11q13) genes and of centromere 6 (Cep 6)-in order to distinguish between Spitz naevus and spitzoid melanoma. We evaluated 12 spitzoid melanomas and six Spitz naevi from our records. The diagnosis of both conditions was based on previously described histopathological criteria. We obtained valuable results for FISH in eight spitzoid melanomas and five Spitz naevi. Chromosomal aberrations were detected in seven of the eight spitzoid melanomas (FISH-positive) and in none of the five Spitz naevi. The FISH-negative spitzoid melanoma was the least typical in its group. FISH was able to distinguish between Spitz naevus and spitzoid melanoma, with a sensitivity of 87.5% and a specificity of 100%. Our findings suggest that FISH could prove a useful tool in the differential diagnosis between these entities. © 2012 Blackwell Publishing Limited.

  4. Morphology of functioning trabeculectomy blebs using anterior segment optical coherence tomography

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    Mayuri B Khamar


    Full Text Available Purpose: To image trabeculectomy blebs using anterior segment optical coherence tomography (AS-OCT, and to correlate the bleb morphologic features at one month postoperatively with bleb function at six months. Materials and Methods: This prospective, observational study included 56 eyes undergoing trabeculectomy with MMC, followed up for minimum of six months. Postoperatively, bleb imaging was done using AS-OCT at one and six month. Bleb morphology was assessed for bleb wall reflectivity, bleb pattern in multiform reflectivity, visibility of drainage route and presence of hyper-reflectivity area. Bleb function was considered successful if IOP was <18 mmHg without medication at six month. Bleb morphology one month postoperatively was correlated with bleb function at six months. Results: At six months successful bleb function was noted in 44 (81.5% eyes. Morphology of bleb at one month showed uniform bleb wall reflectivity in 6 eyes (11% and multiform wall reflectivity in 48 eyes (89%. In eyes with multiform wall reflectivity, microcysts with multiple layers was seen in 26 eyes (48%, microcysts with subconjunctival separation in 12 eyes (22% and only microcyst in 10 eyes (19%. When bleb features at one month were correlated with the bleb function at six months, logistic regression analysis revealed that blebs with multiform reflectivity with multiple internal layers with microcysts were associated with higher chances of success (P < 0.001. Conclusion : AS-OCT demonstrated early bleb morphological features that may be used to predict the functioning of a bleb. Multiform bleb wall reflectivity with a pattern of multiple internal layers and microcysts was associated with increased chances of success of a bleb.

  5. Histopathology and treatment of a huge overhanging filtering bleb. (United States)

    Ou-Yang, Ping-Bo; Qi, Xin; Duan, Xuan-Chu


    The giant filtering bleb encroaching onto the corneal surface is a rare occurrence in our and other's clinical experience (Kapoor and Syed, Int. Ophthalmol 31(5):403-404, 2011), even in patients having had a trabeculectomy with mitomycin C, and how it developed is debated. In this paper, we report a patient who developed a huge overhanging filtering bleb after trabeculectomy, and present our intraoperative photographs, histopathology and immunohistochemistry results. A 62-year-old female visited our hospital due to the giant filtering bleb encroaching onto the corneal surface which was about 6 mm × 8 mm × 3 mm. We dissected the filtering bleb from the cornea and present the histopathology and immunohistochemistry results of it. The results from histopathology and immunohistochemistry in this study are consistent with the filtering cicatrix hypothesis. However, our finding that the overhanging blebs had tight connections with the corneal tissue or corneoscleral limbus, rather than simply leaning on it, might be highly related to their development and still needs to be further studied.

  6. Microtubule-Mediated Inositol Lipid Signaling Plays Critical Roles in Regulation of Blebbing.

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    Tatsuroh Sugiyama

    Full Text Available Cells migrate by extending pseudopods such as lamellipodia and blebs. Although the signals leading to lamellipodia extension have been extensively investigated, those for bleb extension remain unclear. Here, we investigated signals for blebbing in Dictyostelium cells using a newly developed assay to induce blebbing. When cells were cut into two pieces with a microneedle, the anucleate fragments vigorously extended blebs. This assay enabled us to induce blebbing reproducibly, and analyses of knockout mutants and specific inhibitors identified candidate molecules that regulate blebbing. Blebs were also induced in anucleate fragments of leukocytes, indicating that this assay is generally applicable to animal cells. After cutting, microtubules in the anucleate fragments promptly depolymerized, followed by the extension of blebs. Furthermore, when intact cells were treated with a microtubule inhibitor, they frequently extended blebs. The depolymerization of microtubules induced the delocalization of inositol lipid phosphatidylinositol 3,4,5-trisphosphate from the cell membrane. PI3 kinase-null cells frequently extended blebs, whereas PTEN-null cells extended fewer blebs. From these observations, we propose a model in which microtubules play a critical role in bleb regulation via inositol lipid metabolism.


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    R Zarei


    Full Text Available "nThe most common cause of failure during the first trimester after trabeculectomy is encapsulated bleb and needling bleb revision is a less invasive method in the management of refractory cases. The purpose of this study is to determine the efficacy and safety of mitomycin-C (MMC augmented bleb revision of failed filtration surgery. This study is a before-after (paired observation. 33 patients with failed trabeculectomy because of bleb encapsulation, whose intraocular pressure (IOP was not reduced under 21 mmHg despite of medications and digital massage , underwent needling bleb revision and subconjunctival injection of 0.1 ml MMC (0.4 mg/ml.The mean follow-up time was 9.24 ± 5.27 months (1-20 months. Statistical analysis of the data included the paired two-tailed Student's t test for preoperative and postoperative IOP and number of medications. 36 needling procedures (mean, 1.09 ± 0.21 revisions per eye were performed on 33 eyes. Patients were between 10-80 years old (mean, 45.67 ± 22.41 years and mean follow-up was 9.24 ± 5.27 months. IOP decreased from 29.06 ± 5.03 mmHg to 18.21 ± 6.76 mmHg at last follow-up (P= 0.000. Antiglaucoma medications decreased from 2.18 ± 0.58 to 1.36 ± 0.29 at last follow-up (P= 0.000.Overall, 6 (18.2% of 33 cases achieved a complete success and 20 (60.6% of cases achieved a qualified success. The complications of this procedure were subconjunctival hemorrhage (17 cases, hyphema (5 cases and conjunctival button hole (2 cases. Needling bleb revision with mitomycin-C appears to be an effective and relatively safe way to revive failed filtration surgery.

  8. Prospective study of filtering blebs after XEN45 surgery. (United States)

    Olate-Pérez, Á; Pérez-Torregrosa, V T; Gargallo-Benedicto, A; Neira-Ibáñez, P; Cerdà-Ibáñez, M; Osorio-Alayo, V; Barreiro-Rego, A; Duch-Samper, A


    To qualitatively analyse the evolution of filtering blebs after XEN surgery, by using anterior segment optical coherence tomography (AS-OCT). A prospective study was performed on filtering blebs of 30 eyes with cataracts and glaucoma, surgically operated on using phacoemulsification and XEN45 implantation (PHACO-XEN). AS-OCT was used to analyse bleb morphology and reflectivity at 3, 6, and 12 months after surgery. Functionality was studied considering an intraocular pressure (IOP)≤18mmHg without antihypertensive medication. The IOP enabled the blebs to be classified into non-functional: flat (6.67%) and encapsulated (3.33%); and functional (90%), which were then divide by their morphology into cystic (5/27), diffuse (2/27), and layered (20/27). Cystic types had a mean IOP of 12.8, 12.6, and 14.0mmHg at 3, 6 and 12 months, respectively. In the diffuse type, the mean IOP was 13.0, 11.5 and 13.0mmHg at 3, 6 and 12 months, respectively. In the layers pattern the mean IOP was 14.45, 14.55 and 14.8mmHg at 3, 6 and 12 months respectively. The percentage of blebs with high reflectivity was 48.15%, 62.96%, and 77.78%, at 3, 6 and 12 months, with a mean IOP of 14.23, 14.59, and 15.14mmHg in each time period, respectively. AS-OCT could be a good predictor of bleb functionality in PHACO-XEN surgery. Those with a cystic pattern or low reflectivity seem to have better post-operative success. Nevertheless, more long-term studies are required. Copyright © 2017 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.

  9. Giant congenital melanocytic naevus associated with Dandy-Walker malformation, lipomatosis and hemihypertrophy of the leg. (United States)

    Gönül, M; Soylu, S; Gül, U; Aslan, E; Unal, T; Ergül, G


    A 30-year-old woman presented with congenital hyperpigmented plaques and multiple tumoral lesions. Her left leg was hypertrophic, although the bones were normal. Dermatological examination revealed hyperpigmented macules and plaques with hair on the legs, abdominal and lumbar areas (covering > 60% of the total body surface) and multiple naevi on the face, arms, back and chest. Multiple soft masses of various sizes, some of which colocalized with hyperpigmented plaques, were seen on the trunk and legs. Malignant melanoma was excluded by histopathological examinations of multiple biopsy specimens obtained from the pigmented lesions. Histopathological examination of one of the soft masses showed that it was a lipoma. Cranial magnetic resonance imaging and computed tomography scans showed an enlarged fourth ventricule and vermis hypoplasia (Dandy-Walker malformation; DWM). Neurocutaneous melanosis is a rare combined abnormality of the skin and central nervous system. A few case reports relating to the coexistence of giant congenital melanocytic naevus, lipomatosis and hemihypertrophy have been published in the literature. We report this very rare case of giant melanocytic naevus with lipomatosis, hemihypertrophy of the leg, and DWM.

  10. Porokeratotic adnexal ostial naevus: review on the entity and therapeutic approach. (United States)

    Llamas-Velasco, M; Hilty, N; Kempf, W


    Porokeratotic adnexal ostial nevus (PAON) is a term that encompass porokeratotic eccrine ostial and dermal duct naevus and porokeratotic eccrine and hair follicle naevus. PAON is a rare adnexal hamartoma characterized by the presence of a cornoid lamella exclusively overlying eccrine acrosyringia or over both, eccrine acrosyringia and hair follicles. Most of the articles on PAON report its clinical or histopathological characteristics but literature review offer scarce data on the evolution or treatment. We have reviewed it. We report an 8-year-old boy with presence of bilateral asymtomatic verrucous lesions mostly in left side of the body without other added abnormalities through the twelve-year follow-up. As our case presented cornoid lamella overlying eccrine acrosyringia and hair follicles we diagnosed PEHFN. He received treatment with CO2 ablation in 2004 and in 2012 with marked improvement. Review of the previous reported cases of PAON show that it is mostly unilateral and that some patients have coexisting problems like seizures, left hemiparesis, scoliosis, deafness, developmental delay, palmoplantar keratoderma, psoriasis, hyperthyroidism, polinerupathy, breast hipoplasia and KID. PAON responded with tazaroten gel, dithranol short-contact treatment and topical photodynamic therapy but laser treatments appear to be more efficient in most patients. © 2014 European Academy of Dermatology and Venereology.

  11. Computer simulation of cytoskeleton-induced blebbing in lipid membranes

    DEFF Research Database (Denmark)

    Spangler, E. J.; Harvey, C. W.; Revalee, J. D.


    for large values of the ratio between the areas of the bilayer and the cytoskeleton. We also found that blebbing can be induced when the cytoskeleton is subject to a localized ablation or a uniform compression. The results obtained are qualitatively in agreement with the experimental evidence and the model...

  12. Random blebbing motion: A simple model linking cell structural properties to migration characteristics (United States)

    Woolley, Thomas E.; Gaffney, Eamonn A.; Goriely, Alain


    If the plasma membrane of a cell is able to delaminate locally from its actin cortex, a cellular bleb can be produced. Blebs are pressure-driven protrusions, which are noteworthy for their ability to produce cellular motion. Starting from a general continuum mechanics description, we restrict ourselves to considering cell and bleb shapes that maintain approximately spherical forms. From this assumption, we obtain a tractable algebraic system for bleb formation. By including cell-substrate adhesions, we can model blebbing cell motility. Further, by considering mechanically isolated blebbing events, which are randomly distributed over the cell, we can derive equations linking the macroscopic migration characteristics to the microscopic structural parameters of the cell. This multiscale modeling framework is then used to provide parameter estimates, which are in agreement with current experimental data. In summary, the construction of the mathematical model provides testable relationships between the bleb size and cell motility.

  13. A Case of Undesired Bleb Developed After Penetrating Injury

    Directory of Open Access Journals (Sweden)

    Cem Ozgonul


    Full Text Available Eighty-year-old male patient was admitted to our policlinic with stinging, burning and itching in both eyes. Ophthalmological examination revealed avascular undesired bleb that releated with anterior chamber at 2-3 hour quadrant nasal limbus with the surrounding corneal and conjunctival epithelium was vascularized and the dimension was 3x3x3 mm. Towards these findings, we questioned the patient again and we found that, 40 years ago, a broken part of the shaving razor had injured his eye. After penetrating injury of the eye, because of the sutured wound leakage, undesired bleb formations can be seen. We suggest that kind of patient shold be followed up to prevent late complications of penetrating injury.

  14. Severe Blue Rubber Bleb Nevus Syndrome in a Neonate

    DEFF Research Database (Denmark)

    Hansen, L; Wewer, V; Pedersen, S


    bleeding during the first 3 years of life. Afterwards repeated endoscopic electrocoagulations were performed over a period of one year resulting in a termination of bleeding episodes. At ten years of age the patient developed spastic diplegia with slight walking disabilities, coordination and fine motor...

  15. Excisional Bleb Revision for Management of Failed Ahmed Glaucoma Valve. (United States)

    Eslami, Yadollah; Fakhraie, Ghasem; Moghimi, Sasan; Zarei, Reza; Mohammadi, Masoud; Nabavi, Amin; Yaseri, Mehdi; Izadi, Ali


    To evaluate the outcome of excisonal bleb revision in patients with failed Ahmed glaucoma valve (AGV). In total, 29 patients with uncontrolled intraocular pressure (IOP) despite of maximal tolerated medical therapy at least 6 months after AGV implantation were enrolled in this prospective interventional case series. Excision of fibrotic tissue around the reservoir with application of mitomycin C 0.02% was performed. IOP, number of glaucoma medications were evaluated at baseline and 1 week and 1, 3, 6, and 12 months postoperatively. Complete and qualified success was defined as IOP≤21 mm Hg with or without glaucoma medications, respectively. Intraoperative and postopervative complications were also recorded. Mean IOP was reduced from 30±4.2 mm Hg at baseline to 19.2±3.1 mm Hg at 12-month follow-up visit (Pglaucoma medications was decrease from 3.2±0.5 at baseline to 1.9±0.7 at 12-month follow-up (Pglaucoma surgeries were significantly associated with the failure of excisonal bleb revision. Excisional bleb revision could be considered as a relatively effective alternative option for management of inadequate IOP control after AGV implantation.

  16. A collection of rare anomalies: multiple digital glomuvenous malformations, epidermal naevus, temporal alopecia, heterochromia and abdominal lipoblastoma. (United States)

    Hill, S; Rademaker, M


    Glomuvenous malformations are a subtype of venous malformations, which present in infancy or childhood. We describe a teenage girl who presented with multiple digital glomuvenous malformations from birth. In addition, she had an epidermal naevus on the upper lip, an area of congenital alopecia of the scalp, heterochromia irides and an abdominal lipoblastoma. We are unaware of any reports of the association of multiple glomuvenous malformations with the other uncommon developmental anomalies seen in our patient, and a common link eludes us.


    Directory of Open Access Journals (Sweden)

    Jyoti Shetty


    Full Text Available BACKGROUND After trabeculectomy, wound remodelling and fibrosis continues lifelong and can affect bleb filtration. Ethnicity plays an important role in wound healing. Wound modulation with Mitomycin C affects the morphology as well as long-term functional success of the bleb. The aim of the study is to assess the morphology of blebs 5 years post trabeculectomy using clinical methods (slit lamp biomicroscopy and Moorfields Bleb Grading System MBGS along with Anterior Segment Optical Coherence Tomography (ASOCT and to correlate it with its functional outcome. MATERIALS AND METHODS This prospective cross-sectional study evaluated 40 eyes of 30 patients who had undergone trabeculectomy with adjuvant mitomycin C and had a postoperative duration of 5 years or more. Following a comprehensive ophthalmic examination, grading of filtering bleb was performed using MBGS. Internal bleb morphology was imaged using AS-OCT. RESULTS At the time of surgery, the age of the patients ranged from 33-71 years. The average postoperative duration was 8.6 ± 3.3 years. Based on slit lamp biomicroscopy, we found that 47% of the total blebs were diffuse, 30% were cystic and 23% were flat. MBGS parameters were studied in relation to bleb type on slit lamp. Bleb height (p=0.001 and central bleb vascularity (p=0.010 were found to have statistically significant association. There is a statistically significant agreement between the bleb type on slit lamp examination and morphological classification based on AS-OCT at p<0.05 (p=0.000. We observed complete success in 90% of eyes and qualified success in 100%. IOP at the time of study was found to have negative correlation with total bleb height on AS-OCT (r: -0.3592; p=0.022909. CONCLUSION This case series with a long-term followup period showed that trabeculectomy augmented with Mitomycin C (MMC can achieve good long-term IOP control. The filtering bleb morphology using clinical methods (slit lamp biomicroscopy and MBGS and

  18. Sarcolemmal blebs and osmotic fragility as correlates of irreversible ischemic injury in preconditioned isolated rabbit cardiomyocytes. (United States)

    Armstrong, S C; Shivell, L C; Ganote, C E


    The hypothesis that irreversible ischemic injury is related to sub-sarcolemmal blebbing and an inherent osmotic fragility of the blebs was tested by subjecting isolated control and ischemically preconditioned (IPC) or calyculin A (CalA)-pretreated (protected) rabbit cardiomyocytes to ischemic pelleting followed by resuspension in 340, 170 or 85 mosmol medium containing trypan blue. At time points from 0-240 min, osmotic fragility was assessed by the percentage of trypan blue permeable cells. Membrane blebs were visualized with India ink preparations. Bleb formation, following acute hypo-osmotic swelling, developed by 75 min and increased with longer periods of ischemia. Osmotic fragility developed only after 75 min. Cells resuspended in 340 mosmol media did not form blebs and largely retained the ability to exclude trypan blue, even after 240 min ischemia. Although the latent tendency for osmotic blebbing preceded the development of osmotic fragility, most osmotically fragile cells became permeable without evident sarcolemmal bleb formation. The onset of osmotic fragility was delayed in protected cells, but protection did not reduce the bleb formation. It is concluded that blebbing and osmotic fragility are independent manifestations of ischemic injury. The principal locus of irreversible ischemic injury and the protection provided by IPC may lie within the sarcolemma rather than at sarcolemmal attachments to underlying adherens junctions.

  19. Late-Onset Inadvertent Bleb Formation following Pars Plana M3 Molteno Implant Tube Obstruction

    Directory of Open Access Journals (Sweden)

    Anmar M. Abdul-Rahman


    Full Text Available Purpose: To report a case of inadvertent bleb formation presenting 18 months after pars plana M3 Molteno implant tube obstruction in a patient with mixed mechanism glaucoma. Materials and Methods: An 84-year-old Caucasian male with mixed mechanism glaucoma underwent slit-lamp examination, gonioscopy, colour anterior segment photography and anterior segment optical coherence tomography (AS-OCT. Results: An inadvertent bleb developed 18 months after pars plana implant tube re-positioning with a 6/0 Vicryl tie ligature. The bleb was located in the area anterior to the implant plate; it was characterised by a thin, transparent, avascular and multi-cystic wall, with a visible stoma at the posterior edge of the bleb. The bleb was functioning as demonstrated by an intraocular pressure of 6 mm Hg at presentation and a punctate fluorescein uptake pattern of the bleb wall. The bleb over the plate of the Molteno implant was non-functioning, likely secondary to tube obstruction by vitreous in the early postoperative period. AS-OCT showed a tract from the anterior chamber commencing at an entry wound through a corneal tunnel to the posterior stoma at the base of the inadvertent bleb. Conclusions: We hypothesise that the pathophysiologic factors resulting in an inadvertent bleb are a result of a combination of apoptosis, late-onset wound dehiscence and internal gaping of a centrally placed corneal wound. In addition, aqueous hydrodynamic factors may play a role.

  20. Augmentation of filtering blebs with viscoelastics in trabeculectomy. (United States)

    Jeong, Hyerin; Sung, Kyung Rim


    To evaluate the clinical outcome of viscoelastics (VE, sodium hyaluronate)-augmented trabeculectomy (VAT, 66 eyes) and conventional trabeculectomy (CT, 57 eyes) for glaucomatous eyes. In the VAT group, half of the anterior chamber space was filled with VE via the paracentesis site at the end of CT and a balanced salt solution was injected into the anterior chamber. This procedure induced migration of VE from the anterior chamber into the bleb space; thus the bleb was elevated with underlying VE. Follow-up examinations were performed until 1 year after surgery. Success was defined as the attainment of an intraocular pressure (IOP) greater than 5 mmHg and less than 22 mmHg. If IOP was in the range of success without antiglaucoma medication, it was regarded as a complete success. The mean postoperative IOP was significantly lower in the VAT group at postoperative 1 day, 1 week, and 1 month. The complete success rate was significantly higher in the VAT group (89%) than in the CT group (75%), though the qualified success rate was not different between the two groups. The number of IOP-lowering medications at postoperative 1 year was significantly higher in the CT group (1.30 ± 1.08 vs. 0.73 ± 0.98, p = 0.003). Among postoperative procedures, laser suture lysis was required less frequently in the VAT group (p < 0.001). Placing VE within the bleb at the end of surgery may result in better IOP control and less need for IOP-lowering medication without any additional materials, cost, or time.

  1. MRTF transcription and Ezrin-dependent plasma membrane blebbing are required for entotic invasion. (United States)

    Hinojosa, Laura Soto; Holst, Manuel; Baarlink, Christian; Grosse, Robert


    Entosis is a nonapoptotic form of cell death initiated by actomyosin-dependent homotypic cell-in-cell invasion that can be observed in malignant exudates during tumor progression. We previously demonstrated formin-mediated actin dynamics at the rear of the invading cell as well as nonapoptotic plasma membrane (PM) blebbing in this cellular motile process. Although the contractile actin cortex involved in bleb-driven motility is well characterized, a role for transcriptional regulation in this process has not been studied. Here, we explore the impact of the actin-controlled MRTF-SRF (myocardin-related transcription factor-serum response factor) pathway for sustained PM blebbing and entotic invasion. We find that cortical blebbing is tightly coupled to MRTF nuclear shuttling to promote the SRF transcriptional activity required for entosis. Furthermore, PM blebbing triggered SRF-mediated up-regulation of the metastasis-associated ERM protein Ezrin. Notably, Ezrin is sufficient and important to sustain bleb dynamics for cell-in-cell invasion when SRF is suppressed. Our results highlight the critical role of the actin-regulated MRTF transcriptional pathway for bleb-associated invasive motility, such as during entosis. © 2017 Soto Hinojosa et al.

  2. Early cystic bleb needling revision after glaucoma filtering surgery with toxic keratopathy

    Directory of Open Access Journals (Sweden)

    S. Yu. Petrov


    Full Text Available Clinical case of high thin-wall cystic limited filtering bleb needling revision in the early post-op period after trabeculectomy with sinusotomy accompanied by toxic keratopathy is presented. Optical coherence tomography (OCT demonstrated that filtering bleb height was 2700 μm and bleb wall thickness was 70 μm. Bleb needling revision with its lateralwall dissection and subconjunctival injection of dexamethasone, fluorouracil, and ranibizumab near to the bleb site was performed. In 1.5 hours after the procedure, bleb height decreased to 550 μm (by 5 times while bleb wall thickness increased up to 100 μm. Topical antibacterial, steroid, and non-steroid anti-inflammatory therapy was recommended. The next day IOP level reduced from 11 mm Hg to 4.5 mm Hg. It was accompanied by choroidal effusion that was managed conservatively with cycloplegic agents (drops and injections for 3 days. On day 6, central corneal edema affecting all layers, Descemet’s membrane folds, and ocular hypertension were revealed. Metabolic therapy resolved corneal edema within 3 days. Re-needling bleb revision decreased IOP level to 6.2 mm Hg. This resulted in transient Descemet’s membrane folds. This paper describes filtering bleb needling revision with its lateral wall dissection and anti-inflammatory, cytostatic, and anti-VEGF agents use to prolong glaucoma filtering surgery effect in excessive scarring. The procedure was accompanied by toxic corneal endothelium decompensation with corneal edema and Descemet’s membrane folds treated with active metabolic therapy.

  3. Bleb Expansion in Migrating Cells Depends on Supply of Membrane from Cell Surface Invaginations. (United States)

    Goudarzi, Mohammad; Tarbashevich, Katsiaryna; Mildner, Karina; Begemann, Isabell; Garcia, Jamie; Paksa, Azadeh; Reichman-Fried, Michal; Mahabaleshwar, Harsha; Blaser, Heiko; Hartwig, Johannes; Zeuschner, Dagmar; Galic, Milos; Bagnat, Michel; Betz, Timo; Raz, Erez


    Cell migration is essential for morphogenesis, organ formation, and homeostasis, with relevance for clinical conditions. The migration of primordial germ cells (PGCs) is a useful model for studying this process in the context of the developing embryo. Zebrafish PGC migration depends on the formation of cellular protrusions in form of blebs, a type of protrusion found in various cell types. Here we report on the mechanisms allowing the inflation of the membrane during bleb formation. We show that the rapid expansion of the protrusion depends on membrane invaginations that are localized preferentially at the cell front. The formation of these invaginations requires the function of Cdc42, and their unfolding allows bleb inflation and dynamic cell-shape changes performed by migrating cells. Inhibiting the formation and release of the invaginations strongly interfered with bleb formation, cell motility, and the ability of the cells to reach their target. Copyright © 2017 Elsevier Inc. All rights reserved.

  4. Two cases of spontaneous filtering blebs, one idiopathic and one associated with Terrien marginal degeneration. (United States)

    Munro, Monique; McWhae, John; Romanchuk, Kenneth; Crichton, Andrew; Carter, Gordon; Ball, Arlene


    To report a case of an idiopathic unilateral filtering bleb in an otherwise well patient and a case of bilateral spontaneous filtering blebs in association with Terrien marginal degeneration. In this retrospective observational study of 2 cases, clinical notes, ultrasound biomicroscopy and gonioscopy images were reviewed. Case 1: A 32-year-old woman presented with a 1-year history of a gradually growing cyst in her right eye. No changes in vision were reported. The patient had no previous ocular or systemic history, trauma, or surgical interventions. Slit-lamp examination revealed a multilobulated cyst at the supranasal limbus OD. Diagnosis was an idiopathic spontaneous limbal filtering bleb of unclear etiology because there was no inciting event or obvious cause. Case 2: A 31-year-old man, with 2 past episodes of spontaneous filtering bleb development, affecting the left, then the right, eye, presented with his third event in May 2012. The visual acuity was decreased to 20/400 OD. The right eye was hypotonous and ultrasound biomicroscopy confirmed a shallow anterior chamber, a superior peripheral corneal defect, and an echolucent space suggestive of subconjunctival fluid. Limbal thinning was noted bilaterally, consistent with Terrien marginal degeneration. This is a rare case of an idiopathic filtering bleb occurring in a healthy patient with no precipitating cause, other ocular abnormalities, or physical malformations, and the only reported case of bilateral sequential filtering blebs associated with an atypical presentation of Terrien marginal degeneration.

  5. Prompt 27-gauge sutureless transconjunctival vitrectomy for bleb-associated endophthalmitis. (United States)

    Xiao, Bo; Yang, Jin; Chu, Yanhua; Han, Quanhong


    To summarize the characters of 6 bleb-associated endophthalmitis (BAE) cases and to report the outcomes of prompt 27-gauge sutureless transconjunctival vitrectomy to treat these cases. Retrospective, non-randomized, consecutive case series of patients diagnosed with bleb-associated endophthalmitis who underwent prompt 27-gauge vitrectomy. The interval to get bleb-associated endophthalmitis from previous surgery was variant from 2 weeks to 36 months. Most of the patients experienced eye pain. The visual acuity was affected quickly. All the patients presented with hypopyon, fibrinous reaction, and vitreous wick. The size of the hypopyon was from 2 to 4 mm. Two patients came with intraocular lenses. Prompt 27-gauge sutureless transconjunctival vitrectomy was performed on all patients with bleb-associated endophthalmitis. None of the patients experienced complications of sutureless vitrectomy such as hypotony or wound leak. The improvement of best corrected visual acuity (BCVA) was significant in four of six patients. The improvement of BCVA was statistically calculated by using logMAR VA (p  21 mmHg) and received pressure-lowering agents. BAE is associated with substantial visual morbidity. Prompt 27-gauge sutureless transconjunctival vitrectomy is an effective and safe way for treating bleb-associated endophthalmitis.

  6. Clinical observation of needle revision and 5-fluorouracil subconjunctive injection for the dysfunctional filtering blebs

    Directory of Open Access Journals (Sweden)

    Yan-Hua Gao


    Full Text Available AIM:To investigate the efficacy and safety of needle revision with 5-fluorouracil(5-FUon the dysfunctional filtering blebs after trabeculectomy and to assess the factors that may impact the success. METHODS:Eighty-three eyes in 76 patients underwent the needle revision and 5-FU subconjunctive injection for the dysfunctional blebs after trabeculectomy and were followed up for 12mo. The intraocular pressure(IOP, the number of drugs, corneal endothclium, bleb morphology and complications were observed and recorded. RESULTS:IOP decreased significantly from 35.3±5.8mmHg(1kPa=7.5mmHgof pre-needling to 17.0±4.3mmHg of post-needling(PPCI: 10.3-11.6. Statistically, there were no significant difference on needling effect with reference to the types of glaucoma, the use of mitomycin C(MMCduring the previous filtration surgery, the ages of patients, the intervals of needling operation from previous trabeculectomy, while there were significant difference on needling effect with reference to bleb appearance before needling, and the mean number of needling in patients that had surgery within 3mo were less than those who had surgery for more than 3mo. CONCLUSION: The needle revision combined with 5-FU is a safe, effective and simple method. Dysfunctional blebs should be treated early after trabeculectomy.

  7. Uptake of 99mTc labelled (Fab')2 fragments of monoclonal antibody 225.28S by a benign ocular naevus

    International Nuclear Information System (INIS)

    Bomanji, J.; Granowska, M.; Britton, K.E.; Hungerford, J.L.


    Malignant melanoma is one of the most common primary intraocular neoplasms. Recently, 99m Tc radiolabelled (Fab') 2 fragments of monoclonal antibody 225.28S raised against cutaneous melanomas have been used for imaging uveal melanomas. We report here a case where uptake of radiolabelled antibody was observed in a choroidal melanoma of the right eye and a benign choroidal naevus of the left. (orig.)

  8. Hepatocyte membrane injury and bleb formation following low dose comfrey toxicity in rats. (United States)

    Yeong, M L; Wakefield, S J; Ford, H C


    Comfrey, a popular herbal remedy, contains hepatotoxic pyrrolizidine alkaloids and has been implicated in recent human toxicity. Although alkaloids from other plant sources have been extensively researched, studies on the hepatotoxic effects of comfrey alkaloids are scant. The effects of high dose comfrey toxicity have been studied and the present investigation was undertaken to identify changes associated with relatively low dose toxicity. Eight young adult rats were dosed weekly for six weeks with 50 mg/kg of comfrey derived alkaloids. The animals were dissected one week after the last dose and the livers examined by light and electron microscopy. Changes at the light microscopic level showed vascular congestion, mild zone 3 necrosis and loss of definition of hepatocyte cellular membranes. Extensive ultrastructural abnormalities were identified in the form of endothelial sloughing and the loss of hepatocyte microvilli. A striking finding was florid bleb formation on the sinusoidal borders of hepatocytes. Many blebs were shed into the space of Disse and extruded to fill, and sometimes occlude, sinusoidal lumina. Platelets were frequently found in areas of bleb formation. There was evidence of late damage in collagenization of Disse's space. Hepatocyte bleb formation is known to occur under a variety of pathological conditions but there is little to no information in the literature on the effects, if any, of bleb formation on fibrogenesis and the microcirculation and its role in the pathogenesis of liver disease. The pyrrolizidine alkaloids of comfrey may serve as an experimental tool to study the process of bleb formation and the intimate relationship between hepatocyte and sinusoidal injury in the liver.

  9. Blebbing as a physical force in cancer EMT - parallels with mitosis. (United States)

    Sekyrova, Petra; Östblom, Joel; Andäng, Michael


    Epithelial to mesenchymal transition (EMT) during metastasis is initially a two-step process beginning with delamination of cells from the solid tumor followed by acquisition of a migratory phenotype. Several reports indicate that plasma membrane blebbing, associated with cell division, coincides with cell delamination during developmental EMT. This raises a speculative question if blebbing drives EMT in cancer cells in a similar way. Here, we review available data on factors and processes that may support such a connection. Copyright © 2012 Elsevier Ltd. All rights reserved.

  10. Bilateral idiopathic spontaneous filtering bleb with ectopia lentis: A case report and review of literature

    Directory of Open Access Journals (Sweden)

    Premanand Chandran


    Full Text Available A 26-year-old male presented with superior filtering bleb with scleral thinning, dislocated lens, and hypotony in both the eyes. His cornea was normal without any sign of ectasia, and there was no history of recurrent redness, trauma, or surgery in either eye. Anterior segment optical coherence tomography did not reveal communicating fistula between the anterior chamber and subconjunctival space. Physical examination and blood investigations did not reveal any systemic association. He was diagnosed to have spontaneous filtering bleb, which is a rare condition observed with ocular or systemic abnormalities.

  11. Abdominal vascular syndromes: characteristic imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    Cardarelli-Leite, Leandro; Velloni, Fernanda Garozzo; Salvadori, Priscila Silveira; Lemos, Marcelo Delboni; D' Ippolito, Giuseppe, E-mail: [Universidade Federal de Sao Paulo (EPM/UNIFESP), Sao Paulo, SP (Brazil). Escola Paulista de Mediciana. Departmento de Diagnostico por Imagem


    Abdominal vascular syndromes are rare diseases. Although such syndromes vary widely in terms of symptoms and etiologies, certain imaging findings are characteristic. Depending on their etiology, they can be categorized as congenital - including blue rubber bleb nevus syndrome, Klippel-Trenaunay syndrome, and hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) - compressive - including 'nutcracker' syndrome, median arcuate ligament syndrome, Cockett syndrome (also known as May-Thurner syndrome), and superior mesenteric artery syndrome. In this article, we aimed to illustrate imaging findings that are characteristic of these syndromes, through studies conducted at our institution, as well as to perform a brief review of the literature on this topic. (author)

  12. Abdominal vascular syndromes: characteristic imaging findings

    International Nuclear Information System (INIS)

    Cardarelli-Leite, Leandro; Velloni, Fernanda Garozzo; Salvadori, Priscila Silveira; Lemos, Marcelo Delboni; D'Ippolito, Giuseppe


    Abdominal vascular syndromes are rare diseases. Although such syndromes vary widely in terms of symptoms and etiologies, certain imaging findings are characteristic. Depending on their etiology, they can be categorized as congenital - including blue rubber bleb nevus syndrome, Klippel-Trenaunay syndrome, and hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) - compressive - including 'nutcracker' syndrome, median arcuate ligament syndrome, Cockett syndrome (also known as May-Thurner syndrome), and superior mesenteric artery syndrome. In this article, we aimed to illustrate imaging findings that are characteristic of these syndromes, through studies conducted at our institution, as well as to perform a brief review of the literature on this topic. (author)

  13. An ezrin-rich, rigid uropod-like structure directs movement of amoeboid blebbing cells. (United States)

    Lorentzen, Anna; Bamber, Jeffrey; Sadok, Amine; Elson-Schwab, Ilan; Marshall, Christopher J


    Melanoma cells can switch between an elongated mesenchymal-type and a rounded amoeboid-type migration mode. The rounded 'amoeboid' form of cell movement is driven by actomyosin contractility resulting in membrane blebbing. Unlike elongated A375 melanoma cells, rounded A375 cells do not display any obvious morphological front-back polarisation, although polarisation is thought to be a prerequisite for cell movement. We show that blebbing A375 cells are polarised, with ezrin (a linker between the plasma membrane and actin cytoskeleton), F-actin, myosin light chain, plasma membrane, phosphatidylinositol (4,5)-bisphosphate and β1-integrin accumulating at the cell rear in a uropod-like structure. This structure does not have the typical protruding shape of classical leukocyte uropods, but, as for those structures, it is regulated by protein kinase C. We show that the ezrin-rich uropod-like structure (ERULS) is an inherent feature of polarised A375 cells and not a consequence of cell migration, and is necessary for cell invasion. Furthermore, we demonstrate that membrane blebbing is reduced at this site, leading to a model in which the rigid ezrin-containing structure determines the direction of a moving cell through localised inhibition of membrane blebbing.

  14. Characterisation of surface blebbing and membrane vesicles produced by Flavobacterium psychrophilum

    DEFF Research Database (Denmark)

    Møller, Jeannette Dan; Barnes, A.C.; Dalsgaard, Inger


    (LPS) or lipooligosaccharides (LOS) were associated with the MVs. Only the MVs of the HA+ strain possessed haemagglutinin activity. These findings suggest that the F. psychrophilum may, through surface blebbing, release antigenic MVs that contain some proteolytic activity and may aid the bacterium...... in releasing nutrients from its surrounding environment as well as playing a role in impeding the immune response of its host...

  15. TRAIL promotes membrane blebbing, detachment and migration of cells displaying a dysfunctional intrinsic pathway of apoptosis

    Czech Academy of Sciences Publication Activity Database

    Somasekharan, S.P.; Koc, Michal; Morizot, A.; Micheau, O.; Sorensen, P.H.B.; Gaide, O.; Anděra, Ladislav; Martinou, J.C.


    Roč. 18, č. 3 (2013), s. 324-336 ISSN 1360-8185 Institutional support: RVO:68378050 Keywords : TRAIL * membrane blebbing * ROCK1 * HCT116 Bax−/− * cancer cell migration * drug resistance * bortezomib * proteasome Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 3.614, year: 2013

  16. Predictive value of early postoperative IOP and bleb morphology in Mitomycin-C augmented trabeculectomy. (United States)

    Esfandiari, Hamed; Pakravan, Mohammad; Loewen, Nils A; Yaseri, Mehdi


    Background : To determine the predictive value of postoperative bleb morphological features and intraocular pressure (IOP) on the success rate of trabeculectomy. Methods : In this prospective interventional case series, we analyzed for one year 80 consecutive primary open angle glaucoma patients who underwent mitomycin-augmented trabeculectomy. Bleb morphology was scored using the Indiana bleb appearance grading scale (IBAGS). Success was defined as IOP ≤15 mmHg at 12 months. We applied a multivariable regression analysis and determined the area under the receiver operating characteristic curve (AUC). Results : The mean age of participants was 62±12.3 years in the success and 63.2±16.3 years in the failure group (P= 0.430) with equal gender distribution (P=0.911). IOPs on day 1, 7 and 30 were similar in both (P= 0.193, 0.639, and 0.238, respectively.) The AUC of IOP at day 1, day 7 and 30 for predicting a successful outcome was 0.355, 0.452, and 0.80, respectively. The AUC for bleb morphology parameters of bleb height, extension, and vascularization, on day 14 were 0.368, 0.408, and 0.549, respectively. Values for day 30 were 0.428, 0.563, and 0.654. IOP change from day 1 to day 30 was a good predictor of failure (AUC=0.838, 95% CI: 0.704 to 0.971) with a change of more than 3 mmHg predicting failure with a sensitivity of 82.5% (95% CI: 68 to 91%) and a specificity of 87.5% (95% CI: 53 to 98%). Conclusions : IOP on day 30 had a fair to good accuracy while bleb features failed to predict success except bleb vascularity that had a poor to fair accuracy.  An IOP increase more than 3 mmHg during the first 30 days was a good predictor of failure.

  17. Dysplastic vs. Common Naevus-associated vs. De novo Melanomas: An Observational Retrospective Study of 1,021 Patients. (United States)

    Martin-Gorgojo, Alejandro; Requena, Celia; Garcia-Casado, Zaida; Traves, Victor; Kumar, Rajiv; Nagore, Eduardo


    The aim of this case-case study was to determine the differences between dysplastic and common naevus-associated melanomas (NAM) and de novo melanomas. A total of 1,021 prospectively collected patients with invasive cutaneous melanoma from an oncology referral centre were included in the study. Of these, 75.51% had de novo melanomas, 12.93% dysplastic NAM, and 11.56% common NAM. Dysplastic NAM, compared with de novo melanomas, were associated with intermittently photo-exposed sites, atypical melanocytic naevi, decreased tumour thickness, and presence of MC1R non-synonymous variants. Common NAM were more frequent on the trunk and of superficial spreading type. Comparison of dysplastic with common NAM showed significant difference only with regard to mitoses. Both subtypes of NAM shared less aggressive traits than de novo melanomas, albeit with no significant differences in survival after multivariate adjustment. In conclusion, NAM present with less aggressive traits, mostly due to a greater awareness among patients of changing moles than due to their intrinsic biological characteristics.

  18. Membrane Protein Mobility and Orientation Preserved in Supported Bilayers Created Directly from Cell Plasma Membrane Blebs. (United States)

    Richards, Mark J; Hsia, Chih-Yun; Singh, Rohit R; Haider, Huma; Kumpf, Julia; Kawate, Toshimitsu; Daniel, Susan


    Membrane protein interactions with lipids are crucial for their native biological behavior, yet traditional characterization methods are often carried out on purified protein in the absence of lipids. We present a simple method to transfer membrane proteins expressed in mammalian cells to an assay-friendly, cushioned, supported lipid bilayer platform using cell blebs as an intermediate. Cell blebs, expressing either GPI-linked yellow fluorescent proteins or neon-green fused transmembrane P2X2 receptors, were induced to rupture on glass surfaces using PEGylated lipid vesicles, which resulted in planar supported membranes with over 50% mobility for multipass transmembrane proteins and over 90% for GPI-linked proteins. Fluorescent proteins were tracked, and their diffusion in supported bilayers characterized, using single molecule tracking and moment scaling spectrum (MSS) analysis. Diffusion was characterized for individual proteins as either free or confined, revealing details of the local lipid membrane heterogeneity surrounding the protein. A particularly useful result of our bilayer formation process is the protein orientation in the supported planar bilayer. For both the GPI-linked and transmembrane proteins used here, an enzymatic assay revealed that protein orientation in the planar bilayer results in the extracellular domains facing toward the bulk, and that the dominant mode of bleb rupture is via the "parachute" mechanism. Mobility, orientation, and preservation of the native lipid environment of the proteins using cell blebs offers advantages over proteoliposome reconstitution or disrupted cell membrane preparations, which necessarily result in significant scrambling of protein orientation and typically immobilized membrane proteins in SLBs. The bleb-based bilayer platform presented here is an important step toward integrating membrane proteomic studies on chip, especially for future studies aimed at understanding fundamental effects of lipid interactions

  19. Generation of micronuclei during interphase by coupling between cytoplasmic membrane blebbing and nuclear budding.

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    Koh-ichi Utani

    Full Text Available Micronucleation, mediated by interphase nuclear budding, has been repeatedly suggested, but the process is still enigmatic. In the present study, we confirmed the previous observation that there are lamin B1-negative micronuclei in addition to the positive ones. A large cytoplasmic bleb was found to frequently entrap lamin B1-negative micronuclei, which were connected to the nucleus by a thin chromatin stalk. At the bottom of the stalk, the nuclear lamin B1 structure appeared broken. Chromatin extrusion through lamina breaks has been referred to as herniation or a blister of the nucleus, and has been observed after the expression of viral proteins. A cell line in which extrachromosomal double minutes and lamin B1 protein were simultaneously visualized in different colors in live cells was established. By using these cells, time-lapse microscopy revealed that cytoplasmic membrane blebbing occurred simultaneously with the extrusion of nuclear content, which generated lamin B1-negative micronuclei during interphase. Furthermore, activation of cytoplasmic membrane blebbing by the addition of fresh serum or camptothecin induced nuclear budding within 1 to 10 minutes, which suggested that blebbing might be the cause of the budding. After the induction of blebbing, the frequency of lamin-negative micronuclei increased. The budding was most frequent during S phase and more efficiently entrapped small extrachromosomal chromatin than the large chromosome arm. Based on these results, we suggest a novel mechanism in which cytoplasmic membrane dynamics pulls the chromatin out of the nucleus through the lamina break. Evidence for such a mechanism was obtained in certain cancer cell lines including human COLO 320 and HeLa. The mechanism could significantly perturb the genome and influence cancer cell phenotypes.

  20. Volumetric Measurement of Subretinal Blebs Using Microscope-Integrated Optical Coherence Tomography. (United States)

    Hsu, S Tammy; Gabr, Hesham; Viehland, Christian; Sleiman, Karim; Ngo, Hoan T; Carrasco-Zevallos, Oscar M; Vajzovic, Lejla; McNabb, Ryan P; Stinnett, Sandra S; Izatt, Joseph A; Kuo, Anthony N; Toth, Cynthia A


    We advance studies of subretinal treatments by developing a microscope-integrated optical coherence tomography (MIOCT) image-based method for measuring the volume of therapeutics delivered into the subretinal space. A MIOCT image-based volume measurement method was developed and assessed for accuracy and reproducibility by imaging an object of known size in model eyes. This method then was applied to subretinal blebs created by injection of diluted triamcinolone. Bleb volumes obtained from MIOCT were compared to the intended injection volume and the surgeon's estimation of leakage. Validation of the image-based volume measurement method showed accuracy to ±1.0 μL (6.0% of measured volume) with no statistically significant variation under different imaging settings. When this method was applied to subretinal blebs, four of 11 blebs without surgeon-observed leakage yielded a mean volume of 32 ± 12.5 μL, in contrast to the intended 50 μL volume injected from the delivery device. This constituted a mean difference of -18 μL (mean percent error, 36 ± 25%). For all 11 blebs, the surgeon's estimations of leakage were significantly different from and showed no correlation with the volume loss based on image-based volume measurements ( P < 0.001, paired t -test; intraclass correlation = 0). We validated an accurate and reproducible method for measuring subretinal volumes using MIOCT. Use of this method revealed that the intended volume might not be delivered into the subretinal space. MIOCT can allow for accurate assessment of subretinal dose delivered, which may have therapeutic implications in evaluating the efficacy and toxicity of subretinal therapies. Use of MIOCT can provide feedback on the accuracy of subretinal injection volumes delivered.

  1. Demographic study of port wine stain patients attending a laser clinic: family history, prevalence of naevus anaemicus and results of prior treatment. (United States)

    Mills, C M; Lanigan, S W; Hughes, J; Anstey, A V


    All patients with port wine stains (PWS) attending a tunable dye laser clinic were examined by one author (SWL), forming a large group which has allowed study of the demographic data of such patients. Two hundred and eighty-three patients, 217 females (median age 24 years, range 0.5-73) and 66 males (median age 20 years, range 0.75-72), were examined. The PWS were on the face in 226, neck in 69, trunk in 36, upper limb in 35 and lower limb in 29. The commonest lesional colour was purple (63 patients), while 39 naevi were pink/red, 35 pink/ purple and 35 pink. The naevus was flat in 255 patients, cobblestoned in 28, associated with hypertrophy in 31 and with scarring in 22. Seventy-two patients (25.4%) had a positive family history of birthmarks, 20 strawberry haemangiomas and 22 PWS, the family history of PWS being higher than expected for the prevalence of this naevus in the population. One hundred and forty-six patients were also examined for naevus anaemicus which was noted in 12 (8.2%), confirming an association between these two naevi. Ninety-four patients had received previous treatment, most commonly with the argon laser (56 patients), of whom only five reported a good result, and 17 of 22 patients with treatment-related scarring had been treated with this laser. Cosmetic camouflage was used in 109 (38.5%) of patients, who usually had PWS on the face (94%), of whom only 46 (16%) had received advice of its use.

  2. Management of the late leaking filtration blebs. A report of seven cases and a selective review of the literature.

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    Mandal A


    Full Text Available PURPOSE: To describe the outcome of various treatment modalities in the management of late bleb leaks after glaucoma filtering surgery (GFS. MATERIALS AND METHODS: Seven consecutive patients treated for late bleb leaks (Seidel′s positive between July 1990 and June 1999 were were enrolled in the study. The management strategy consisted of initial conservative therapy, and tailored surgery, if necessary. The surgical technique employed was either conjunctival-Tenon′s advancement flap, hinged scleral flap, or fistulectomy with direct suturing. The main outcome measures were bleb characteristics and postoperative intraocular pressure (IOP. The secondary outcome measure was visual acuity. RESULTS: One patient responded to conservative therapy (aqueous suppressants, bandage contact lens and six patients needed surgery. The successful surgical technique was conjunctivo-Tenon′s advancement flap in three, hinged scleral flap in two, and fistulectomy-direct suturing to the wound (combined with cataract surgery and intraocular lens implantation in one patient. The bleb leak stopped in all cases and 5 of the 6 surgical patients sustained functioning filtering blebs. Follow-up ranged from 8 to 56 months (mean = 20.4 +/- 16.2 months. Visual acuity improved to 6/12 or better in 4 cases, 6/36 in 2 cases and it remained at light perception in one case. None of the patients had any intraoperative or postoperative complications. CONCLUSIONS: Late leaking blebs after GFS can be treated successfully. The management decision and selection of surgical technique should be based on the clinical condition.

  3. Etiology and epidemiological analysis of glaucoma-filtering bleb infections in a tertiary eye care hospital in south India

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    R Ramakrishnan


    Full Text Available Purpose : To evaluate the microbial etiology and associated risk factors among patients with blebitis following trabeculectomy. Materials and Methods : A retrospective analysis of all culture-proven blebitis was performed in patients who underwent trabeculectomy between January 2004 and December 2008. A standardized form was filled out for each patient, documenting sociodemographic features and information pertaining to risk factors. Swabbing of the infected bleb surface was performed for all suspected cases and further subjected to microbiological analysis. Results : A total of 23 patients with culture-proven blebitis were treated during the study period, with a mean age of 59.2 years (59.2 ± SD: 12.8; range, 30-81 years. Duration of onset was early (≤36 months in six (26% cases and late (> 36 months in 17 (74% cases with a range between 15 and 144 months (mean, 82.91 months; SD: 41.89. All 23 blebs were located superiorly and of which, 21 (91% were microcystic avascular, 1 (4% diffuse avascular, and 1 (4% vascular flattened. The predominant risk factor identified was bleb leak (35%; 8 of 23 followed by thin bleb (22%; 5 of 23 and blepharitis (17%; 4 of 23. Bleb leaks (100% were recorded only in patients with late onset (≥ 9 years of infection (P< 0.001, while the incidence of ocular surface disease (100% occurred early (≤3 years (P< 0.001. Use of topical steroids was associated frequently with cases of thin blebs (80%; 4 of 5 (P< 0.001, while topical antibiotics showed bleb leaks (88%; 7 of 8 (P< 0.001. Coagulase-positive staphylococci were frequently recovered from blebitis with thin blebs (71%; 5 of 7 (P = 0.001, Coagulase-negative staphylococci (CoNS with bleb leak (100%; 8 of 8 (P< 0.001, Corynebacterium with blepharitis (100%; 3 of 3 (P = 0.001, and Streptococci with releasable sutures (75%; 3 of 4 (P = 0.001. Conclusion : Bleb leak is the principal risk factor responsible for late-onset blebitis, while early-onset blebitis could

  4. Force spectroscopy measurements show that cortical neurons exposed to excitotoxic agonists stiffen before showing evidence of bleb damage.

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    Shan Zou

    Full Text Available In ischemic and traumatic brain injury, hyperactivated glutamate (N-methyl-D-aspartic acid, NMDA and sodium (Nav channels trigger excitotoxic neuron death. Na(+, Ca(++ and H2O influx into affected neurons elicits swelling (increased cell volume and pathological blebbing (disassociation of the plasma membrane's bilayer from its spectrin-actomyosin matrix. Though usually conflated in injured tissue, cell swelling and blebbing are distinct processes. Around an injury core, salvageable neurons could be mildly swollen without yet having suffered the bleb-type membrane damage that, by rendering channels leaky and pumps dysfunctional, exacerbates the excitotoxic positive feedback spiral. Recognizing when neuronal inflation signifies non-lethal osmotic swelling versus blebbing should further efforts to salvage injury-penumbra neurons. To assess whether the mechanical properties of osmotically-swollen versus excitotoxically-blebbing neurons might be cytomechanically distinguishable, we measured cortical neuron elasticity (gauged via atomic force microscopy (AFM-based force spectroscopy upon brief exposure to hypotonicity or to excitotoxic agonists (glutamate and Nav channel activators, NMDA and veratridine. Though unperturbed by solution exchange per se, elasticity increased abruptly with hypotonicity, with NMDA and with veratridine. Neurons then invariably softened towards or below the pre-treatment level, sometimes starting before the washout. The initial channel-mediated stiffening bespeaks an abrupt elevation of hydrostatic pressure linked to NMDA or Nav channel-mediated ion/H2O fluxes, together with increased [Ca(++]int-mediated submembrane actomyosin contractility. The subsequent softening to below-control levels is consistent with the onset of a lethal level of bleb damage. These findings indicate that dissection/identification of molecular events during the excitotoxic transition from stiff/swollen to soft/blebbing is warranted and should be

  5. Lamellipodia and Membrane Blebs Drive Efficient Electrotactic Migration of Rat Walker Carcinosarcoma Cells WC 256. (United States)

    Sroka, Jolanta; Krecioch, Izabela; Zimolag, Eliza; Lasota, Slawomir; Rak, Monika; Kedracka-Krok, Sylwia; Borowicz, Pawel; Gajek, Marta; Madeja, Zbigniew


    The endogenous electric field (EF) may provide an important signal for directional cell migration during wound healing, embryonic development and cancer metastasis but the mechanism of cell electrotaxis is poorly understood. Additionally, there is no research addressing the question on the difference in electrotactic motility of cells representing various strategies of cell movement-specifically blebbing vs. lamellipodial migration. In the current study we constructed a unique experimental model which allowed for the investigation of electrotactic movement of cells of the same origin but representing different modes of cell migration: weakly adherent, spontaneously blebbing (BC) and lamellipodia forming (LC) WC256 cells. We report that both BC and LC sublines show robust cathodal migration in a physiological EF (1-3 V/cm). The directionality of cell movement was completely reversible upon reversing the field polarity. However, the full reversal of cell direction after the change of EF polarity was much faster in the case of BC (10 minutes) than LC cells (30 minutes). We also investigated the distinct requirements for Rac, Cdc42 and Rho pathways and intracellular Ca2+ in electrotaxis of WC256 sublines forming different types of cell protrusions. It was found that Rac1 is required for directional movement of LC to a much greater extent than for BC, but Cdc42 and RhoA are more crucial for BC than for LC cells. The inhibition of ROCK did not affect electrotaxis of LC in contrast to BC cells. The results also showed that intracellular Ca2+ is essential only for the electrotactic reaction of BC cells. Moreover, inhibition of MLCK and myosin II did not affect the electrotaxis of LC in contrast to BC cells. In conclusion, our results revealed that both lamellipodia and membrane blebs can efficiently drive electrotactic migration of WC 256 carcinosarcoma cells, however directional migration is mediated by different signalling pathways.

  6. Lamellipodia and Membrane Blebs Drive Efficient Electrotactic Migration of Rat Walker Carcinosarcoma Cells WC 256.

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    Jolanta Sroka

    Full Text Available The endogenous electric field (EF may provide an important signal for directional cell migration during wound healing, embryonic development and cancer metastasis but the mechanism of cell electrotaxis is poorly understood. Additionally, there is no research addressing the question on the difference in electrotactic motility of cells representing various strategies of cell movement-specifically blebbing vs. lamellipodial migration. In the current study we constructed a unique experimental model which allowed for the investigation of electrotactic movement of cells of the same origin but representing different modes of cell migration: weakly adherent, spontaneously blebbing (BC and lamellipodia forming (LC WC256 cells. We report that both BC and LC sublines show robust cathodal migration in a physiological EF (1-3 V/cm. The directionality of cell movement was completely reversible upon reversing the field polarity. However, the full reversal of cell direction after the change of EF polarity was much faster in the case of BC (10 minutes than LC cells (30 minutes. We also investigated the distinct requirements for Rac, Cdc42 and Rho pathways and intracellular Ca2+ in electrotaxis of WC256 sublines forming different types of cell protrusions. It was found that Rac1 is required for directional movement of LC to a much greater extent than for BC, but Cdc42 and RhoA are more crucial for BC than for LC cells. The inhibition of ROCK did not affect electrotaxis of LC in contrast to BC cells. The results also showed that intracellular Ca2+ is essential only for the electrotactic reaction of BC cells. Moreover, inhibition of MLCK and myosin II did not affect the electrotaxis of LC in contrast to BC cells. In conclusion, our results revealed that both lamellipodia and membrane blebs can efficiently drive electrotactic migration of WC 256 carcinosarcoma cells, however directional migration is mediated by different signalling pathways.

  7. Subcapsular sinus macrophage fragmentation and CD169+ bleb acquisition by closely associated IL-17-committed innate-like lymphocytes.

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    Elizabeth E Gray

    Full Text Available Subcapsular sinus macrophages (SSMs in lymph nodes are rapidly exposed to antigens arriving in afferent lymph and have a role in their capture and display to B cells. In tissue sections SSMs exhibit long cellular processes and express high amounts of CD169. Here, we show that many of the cells present in lymph node cell suspensions that stain for CD169 are not macrophages but lymphocytes that have acquired SSM-derived membrane blebs. The CD169 bleb(+ lymphocytes are enriched for IL-17 committed IL-7Rα(hiCCR6(+ T cells and NK cells. In addition, the CD169 staining detected on small numbers of CD11c(hi dendritic cells is frequently associated with membrane blebs. Counter intuitively the CD169 bleb(+ lymphocytes are mostly CD4 and CD8 negative whereas many SSMs express CD4. In situ, many IL-7Rα(hi cells are present at the subcapsular sinus and interfollicular regions and migrate in close association with CD169(+ macrophages. These findings suggest SSMs undergo fragmentation during tissue preparation and release blebs that are acquired by closely associated cells. They also suggest an intimate crosstalk between SSMs and IL-17 committed innate-like lymphocytes that may help provide early protection of the lymph node against lymph-borne invaders.

  8. Topical Mitomycin-C versus Subconjunctival 5‑Fluorouracil for Management of Bleb Failure

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    Mohammad Pakravan


    Full Text Available Purpose: To compare the efficacy and safety of topical mitomycin‑C (MMC drops with that of subconjunctival 5‑fluorouracil (5‑FU injections for management of early bleb failure after trabeculectomy or combined phacoemulsification and trabeculectomy with posterior chamber intraocular lens implantation (PT+PCIOL. Methods: In a randomized comparative study, 37 eyes of 37 patients with impending early bleb failure received MMC 0.02% eye drops for 2 or 4 weeks (19 eyes or subconjunctival 5‑FU injections, 5 mg per dose (18 eyes. Complete success was defined as 5 < IOP ≤ 18 mmHg without medications. Results: Baseline characteristics were comparable between the study groups. However, there were more cases of combined PT+PCIOL in the MMC group [11 (57.9% eyes versus 3 (16.7% eyes, P = 0.017]. Mean preoperative IOP was 20.5΁8.85 mmHg in the MMC group and 25.82΁11.35 mmHg in the 5‑FU group (P = 0.129, which was decreased to 13.2΁6.1 and 10.6΁4.8 mmHg respectively after 12 months (P = 0.159. There was no significant difference between the study groups in terms of bleb extent (P = 0.170, height (P = 0.178 or vascularity (P = 0.366. At the end of the study, complete success was achieved in 13 eyes (68.4% in the MMC group and 14 eyes (77.8% in the 5‑FU group (P = 0.714. The survival of success at 8 months (median follow-up was 89.5% and 86.5% in the MMC and 5‑FU groups respectively; the number of glaucoma medications (P = 0.707 and best-corrected visual acuity (P = 0.550 were also comparable. Complication rates were similar in the study groups (P = 0.140. Conclusion: Topical MMC 0.02% has comparable safety and efficacy to subconjunctival 5‑FU injections for management of early bleb failure. Topical MMC 0.02% drops are more convenient and can be initiated first, while 5‑FU injections may be reserved for eyes with an insufficient response to topical MMC.

  9. Efficacy of autologous conjunctival flap on repairing the late-onset filtering bleb leakage

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    Jian-Gang Xu


    Full Text Available AIM: To evaluate the effectiveness of autologous conjunctival flap surgery for repairing the late-onset filtering bleb leakage after trabeculectomy. METHODS: This study retrospectively reviewed 106 eyes from 106 patients with late-onset filtering bleb leakage after trabeculectomy who received autologous conjunctival flap surgery at the Zhongshan Ophthalmic Centre from 2005 to 2015. The basic information was recorded, and the interval time between trabeculectomy and autologous conjunctival flap surgery as well as related risk factors, intraocular pressure (IOP, anterior chamber depth (ACD and best corrected visual acuity (BCVA were analysed. Moreover, 41 patients who completed the 1-year follow up were analysed to determine the IOP and BCVA changes and long-term success rates. RESULTS: The 50 male and 56 female subjects (average age 39.13±17.96y included 47 (44.34% and 33 (31.13% cases of primary open angle and primary angle-closure glaucoma. The mean interval between trabeculectomy and repair surgery was 60.60±56.92 (3-264mo. The mean mitomycin (MMC concentration during trabeculectomy was 0.27±0.04 (0.12-0.4 mg/mL in the fornix-based conjunctival flap group (68 patients and 0.28±0.04 (0.20-0.33 mg/mL in the limbal-based conjunctival flap group (11 patients. After bleb leakage, the patients' vision remained stable while the IOP decreased from 10.25±4.76 (3-20.86 to 9.44±4.33 (2-21 mm Hg (P<0.01. In the 41 analysed patients, the IOP was controlled at 15.68±5.11 (7-40 mm Hg in the 1st year after autologous conjunctival flap surgery and recurrence was not observed, for a long-term success rate of 100%. CONCLUSION: Autologous conjunctival flap repairing surgery is an effective technique for sealing filtering bleb leakages and controlling IOP postoperatively.

  10. Interaction of c-Cbl with myosin IIA regulates Bleb associated macropinocytosis of Kaposi's sarcoma-associated herpesvirus. (United States)

    Valiya Veettil, Mohanan; Sadagopan, Sathish; Kerur, Nagaraj; Chakraborty, Sayan; Chandran, Bala


    KSHV is etiologically associated with Kaposi's sarcoma (KS), an angioproliferative endothelial cell malignancy. Macropinocytosis is the predominant mode of in vitro entry of KSHV into its natural target cells, human dermal microvascular endothelial (HMVEC-d) cells. Although macropinocytosis is known to be a major route of entry for many viruses, the molecule(s) involved in the recruitment and integration of signaling early during macropinosome formation is less well studied. Here we demonstrate that tyrosine phosphorylation of the adaptor protein c-Cbl is required for KSHV induced membrane blebbing and macropinocytosis. KSHV induced the tyrosine phosphorylation of c-Cbl as early as 1 min post-infection and was recruited to the sites of bleb formation. Infection also led to an increase in the interaction of c-Cbl with PI3-K p85 in a time dependent manner. c-Cbl shRNA decreased the formation of KSHV induced membrane blebs and macropinocytosis as well as virus entry. Immunoprecipitation of c-Cbl followed by mass spectrometry identified the interaction of c-Cbl with a novel molecular partner, non-muscle myosin heavy chain IIA (myosin IIA), in bleb associated macropinocytosis. Phosphorylated c-Cbl colocalized with phospho-myosin light chain II in the interior of blebs of infected cells and this interaction was abolished by c-Cbl shRNA. Studies with the myosin II inhibitor blebbistatin demonstrated that myosin IIA is a biologically significant component of the c-Cbl signaling pathway and c-Cbl plays a new role in the recruitment of myosin IIA to the blebs during KSHV infection. Myosin II associates with actin in KSHV induced blebs and the absence of actin and myosin ubiquitination in c-Cbl ShRNA cells suggested that c-Cbl is also responsible for the ubiquitination of these proteins in the infected cells. This is the first study demonstrating the role of c-Cbl in viral entry as well as macropinocytosis, and provides the evidence that a signaling complex containing c

  11. Interaction of c-Cbl with myosin IIA regulates Bleb associated macropinocytosis of Kaposi's sarcoma-associated herpesvirus.

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    Mohanan Valiya Veettil


    Full Text Available KSHV is etiologically associated with Kaposi's sarcoma (KS, an angioproliferative endothelial cell malignancy. Macropinocytosis is the predominant mode of in vitro entry of KSHV into its natural target cells, human dermal microvascular endothelial (HMVEC-d cells. Although macropinocytosis is known to be a major route of entry for many viruses, the molecule(s involved in the recruitment and integration of signaling early during macropinosome formation is less well studied. Here we demonstrate that tyrosine phosphorylation of the adaptor protein c-Cbl is required for KSHV induced membrane blebbing and macropinocytosis. KSHV induced the tyrosine phosphorylation of c-Cbl as early as 1 min post-infection and was recruited to the sites of bleb formation. Infection also led to an increase in the interaction of c-Cbl with PI3-K p85 in a time dependent manner. c-Cbl shRNA decreased the formation of KSHV induced membrane blebs and macropinocytosis as well as virus entry. Immunoprecipitation of c-Cbl followed by mass spectrometry identified the interaction of c-Cbl with a novel molecular partner, non-muscle myosin heavy chain IIA (myosin IIA, in bleb associated macropinocytosis. Phosphorylated c-Cbl colocalized with phospho-myosin light chain II in the interior of blebs of infected cells and this interaction was abolished by c-Cbl shRNA. Studies with the myosin II inhibitor blebbistatin demonstrated that myosin IIA is a biologically significant component of the c-Cbl signaling pathway and c-Cbl plays a new role in the recruitment of myosin IIA to the blebs during KSHV infection. Myosin II associates with actin in KSHV induced blebs and the absence of actin and myosin ubiquitination in c-Cbl ShRNA cells suggested that c-Cbl is also responsible for the ubiquitination of these proteins in the infected cells. This is the first study demonstrating the role of c-Cbl in viral entry as well as macropinocytosis, and provides the evidence that a signaling complex

  12. Eccrine Angiomatous Naevus Revisited (United States)

    Sen, Sumit; Chatterjee, Gobinda; Mitra, Pradip K; Gangopadhyay, Anusree


    Hamartomatous, circumscribed swellings of the extremities make an interesting study. Presentations are manifold and the naevi are not always present from birth. Excessive growth of hairs leads to remarkable appearance of such swellings. A young woman presented to the dermatology department, complaining of tenderness over 4th finger of her left hand. The defect was present for the last couple of years and was typified by visible hyperhidrosis on gentle tapping. Counseling of the affected lady made her agree for a skin biopsy. The histopathology revealed it to be of the nature of eccrine angiomatous hamartoma. Blood vessels were scarce. Eccrine ducts were plentiful without other associated anomalies. The deformity was removed by simple excision with good result. PMID:22837574

  13. Seasonal Variation in the Incidence of Late-onset Bleb-related Infection After Filtering Surgery in Japan: The Japan Glaucoma Society Survey of Bleb-related Infection Report 3. (United States)

    Sagara, Hideto; Yamamoto, Tetsuya; Sekiryu, Tetsuju; Ogasawara, Masashi; Tango, Toshiro


    To investigate seasonal variations in the incidence of late-onset bleb-related infection after filtering surgery in Japan and the relationship between season and other factors. This multicenter, prospective study is part of a 5-year-long Japan Glaucoma Society survey of bleb-related infection. We analyzed 156 cases of first-time infections (106 men, 50 women) encountered over 5 years to determine the seasonal variation using the Roger test and the relationships between season, sex, and age by logistic regression analysis. We noted significant monthly seasonal variation in the incidence of infection, which was the highest in January and February (23 and 18 infections, respectively; P=0.018) and lowest from August to November (9, 9, 11, and 8 infections, in that order). Multiple logistic regression analysis revealed that infections were most frequent among women in spring (odds ratio, 8.43; P=0.005). Staphylococcus aureus and Streptococcus spp. infections were more frequent in warmer seasons than in winter. Less virulent species, namely, coagulase-negative Staphylococcus spp., Corynebacterium spp., and Enterococcus spp., were frequently detected in winter. Coagulase-negative Staphylococcus spp. and Haemophilus influenzae were more frequent in women and men, respectively. The incidence of late-onset bleb-related infection showed significant seasonal variation and sex differences. The climate in Japan may influence the incidence of bleb-related infection. Moreover, besides climate, physical activity level and lifestyle may contribute to the seasonal variation in the incidence and sex differences in the involved bacterial agents of bleb-related infections in Japan.

  14. ROCK-1 mediates diabetes-induced retinal pigment epithelial and endothelial cell blebbing: Contribution to diabetic retinopathy. (United States)

    Rothschild, Pierre-Raphaël; Salah, Sawsen; Berdugo, Marianne; Gélizé, Emmanuelle; Delaunay, Kimberley; Naud, Marie-Christine; Klein, Christophe; Moulin, Alexandre; Savoldelli, Michèle; Bergin, Ciara; Jeanny, Jean-Claude; Jonet, Laurent; Arsenijevic, Yvan; Behar-Cohen, Francine; Crisanti, Patricia


    In diabetic retinopathy, the exact mechanisms leading to retinal capillary closure and to retinal barriers breakdown remain imperfectly understood. Rho-associated kinase (ROCK), an effector of the small GTPase Rho, involved in cytoskeleton dynamic regulation and cell polarity is activated by hyperglycemia. In one year-old Goto Kakizaki (GK) type 2 diabetic rats retina, ROCK-1 activation was assessed by its cellular distribution and by phosphorylation of its substrates, MYPT1 and MLC. In both GK rat and in human type 2 diabetic retinas, ROCK-1 is activated and associated with non-apoptotic membrane blebbing in retinal vessels and in retinal pigment epithelium (RPE) that respectively form the inner and the outer barriers. Activation of ROCK-1 induces focal vascular constrictions, endoluminal blebbing and subsequent retinal hypoxia. In RPE cells, actin cytoskeleton remodeling and membrane blebs in RPE cells contributes to outer barrier breakdown. Intraocular injection of fasudil, significantly reduces both retinal hypoxia and RPE barrier breakdown. Diabetes-induced cell blebbing may contribute to ischemic maculopathy and represent an intervention target.

  15. Predictive value of early postoperative IOP and bleb morphology in Mitomycin-C augmented trabeculectomy [version 2; referees: 2 approved

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    Hamed Esfandiari


    Full Text Available Background: To determine the predictive value of postoperative bleb morphological features and intraocular pressure (IOP on the success rate of trabeculectomy. Methods: In this prospective interventional case series, we analyzed for one year 80 consecutive primary open angle glaucoma patients who underwent mitomycin-augmented trabeculectomy. Bleb morphology was scored using the Indiana bleb appearance grading scale (IBAGS. Success was defined as IOP ≤15 mmHg at 12 months. We applied a multivariable regression analysis and determined the area under the receiver operating characteristic curve (AUC. Results: The mean age of participants was 62±12.3 years in the success and 63.2±16.3 years in the failure group (P= 0.430 with equal gender distribution (P=0.911. IOPs on day 1, 7 and 30 were similar in both (P= 0.193, 0.639, and 0.238, respectively. The AUC of IOP at day 1, day 7 and 30 for predicting a successful outcome was 0.355, 0.452, and 0.80, respectively. The AUC for bleb morphology parameters of bleb height, extension, and vascularization, on day 14 were 0.368, 0.408, and 0.549, respectively. Values for day 30 were 0.428, 0.563, and 0.654. IOP change from day 1 to day 30 was a good predictor of failure (AUC=0.838, 95% CI: 0.704 to 0.971 with a change of more than 3 mmHg predicting failure with a sensitivity of 82.5% (95% CI: 68 to 91% and a specificity of 87.5% (95% CI: 53 to 98%. Conclusions: IOP on day 30 had a fair to good accuracy while bleb features failed to predict success except bleb vascularity that had a poor to fair accuracy.  An IOP increase more than 3 mmHg during the first 30 days was a good predictor of failure.

  16. Quarter-Shifted Microincisional Sutureless Vitrectomy in Patients with a Glaucoma Drainage Implant or Filtering Bleb. (United States)

    Song, Ji Hun; Jang, Seran; Cho, Eun Hyung; Ahn, Jaehong


    When vitrectomy is performed in eyes that have undergone glaucoma surgery, the site of sclerotomy often overlaps with the previous glaucoma operation site. It can lead to serious complications such as postoperative hypotony, leakage, and/or infection. Our technique involves modification of surgeon's position and two sclerotomy sites 45° away from the original position, with an infusion cannula inserted infranasally to avoid damage to the glaucoma drainage implant or filtering bleb. The modified approach was applied to seven eyes with various indications. Vitrectomy was successfully completed, and there were no sclerotomy site complications, leakage, or hypotony in any case. Good intraocular pressure control was maintained throughout the postoperative course in all cases. © Copyright: Yonsei University College of Medicine 2017.

  17. Postoperative Changes in Aqueous Monocyte Chemotactic Protein-1 Levels and Bleb Morphology after Trabeculectomy vs. Ex-PRESS Shunt Surgery.

    Directory of Open Access Journals (Sweden)

    Kohei Shobayashi

    Full Text Available To evaluate the postoperative changes in blebs and levels of aqueous monocyte chemotactic protein-1 (MCP-1 after trabeculectomy vs. Ex-PRESS tube shunt surgery.Rabbits were subjected to trabeculectomy or Ex-PRESS tube shunt surgery and observed for up to 3 months. Intraocular pressure (IOP was measured using a rebound tonometer. The MCP-1 level was measured by enzyme-linked immunosorbent assay (ELISA. Bleb morphology was evaluated using photos and anterior-segment optical coherence tomography (OCT.There were no differences in bleb appearance or IOP at any time between the groups. Bleb wall density in the anterior-segment OCT image was significantly lower 1 week after surgery in the Ex-PRESS group than the trabeculectomy group. The MCP-1 level in control eyes was 304.1 ± 45.2 pg/mL. In the trabeculectomy group, the mean aqueous MCP-1 level was 1444.9, 1914.3, 1899.8, 516.4, 398.3, 427.3, 609.5, 1612.7, 386.2, and 167.9 pg/mL at 3, 6, and 12 h, and 1, 2, 5, 7, 14, 30, and 90 days after surgery, respectively. In the Ex-PRESS group, the corresponding values were 1744.0, 1372.0, 932.5, 711.7, 396.1, 487.3, 799.5, 1327.9, 293.6, and 184.0 pg/mL. There were no significant differences in the aqueous MCP-1 level between the groups at any time point.The postoperative changes were similar in the Ex-PRESS and trabeculectomy groups, except for bleb wall density in the anterior-segment OCT image. The postoperative aqueous MCP-1 level had bimodal peaks in both groups.

  18. Ab Interno Trabeculectomy With the Trabectome as a Valuable Therapeutic Option for Failed Filtering Blebs. (United States)

    Wecker, Thomas; Neuburger, Matthias; Bryniok, Laura; Bruder, Kathrin; Luebke, Jan; Anton, Alexandra; Jordan, Jens F


    Uncontrolled intraocular pressure (IOP) after glaucoma filtration surgery is a challenging problem in the management of glaucoma patients. The Trabectome is a device for selective electroablation of the trabecular meshwork through a clear cornea incision without affecting the conjunctiva. Minimally invasive glaucoma surgery using the Trabectome is safe and effective as primary glaucoma surgery. Here we investigate the results of ab interno trabeculectomy with the Trabectome for IOP control in patients with a failed filtering bleb. A total of 60 eyes of 60 consecutive patients with primary open-angle glaucoma (POAG) or pseudoexfoliative glaucoma (PXG) were enrolled in this single center observational study. Trabectome surgery was performed alone or in combination with phacoemulsification by 2 experienced surgeons. IOP readings and number of IOP lowering medication as primary outcome parameters were taken by an independent examiner. Intraoperative and postoperative medication were recorded systematically. Mean IOP before surgery was 24.5±3.5 mm Hg and decreased to 15.7±3.4 (-36%) after mean follow-up of 415 days. The number of necessary IOP lowering medication dropped from 2.1±1.3 to 1.8±1.2 (14% reduction from baseline). A total of 25% (n=15) of cases reported here needed additional surgery after 517 days (range: 6 to 1563 d). No major complications were observed. After mean follow-up, we found a qualified success rate for PXG of 87% and 50% for POAG as revealed by the Kaplan-Meier analysis according to the definitions for success in advanced glaucoma cases according to the World Glaucoma Association (40% reduction from baseline IOP and maximum IOP of 15 mm Hg). Trabectome surgery for uncontrolled IOP after trabeculectomy is safe and effective especially in PXG patients. Given the demanding subgroup of patients studied here, it is not surprising that success rates are lower compared with previous studies investigating the Trabectome for primary glaucoma surgery

  19. Conservative treatment for late-onset bleb leaks after trabeculectomy with mitomycin C in patients with ocular surface disease

    Directory of Open Access Journals (Sweden)

    Sagara H


    Full Text Available Hideto Sagara,1,2 Tomohiro Iida,2,3 Kimimori Saito,4 Hiroki Noji,2 Masashi Ogasawara,2 Hiroshi Oyamada21The Marui Eye Clinic, Fukushima, 2Department of Ophthalmology, Fukushima Medical University School of Medicine, Fukushima, 3Tokyo Women's Medical University, Tokyo, 4Matuki Eye Clinic, Fukushima, JapanBackground: Sodium hyaluronate and autologous serum eye drops are used to treat ocular surface disease (OSD and are reported to prevent and treat late-onset bleb leaks following trabeculectomy with mitomycin C. In this study, we evaluated the efficacy of a combination of sodium hyaluronate and autologous serum eye drops and treatment for obstructive meibomian gland dysfunction as a therapy for late-onset bleb leaks after trabeculectomy with mitomycin C.Methods: This was a retrospective, interventional, nonsimultaneous study of 12 subjects (12 eyes of mean age of 64.3 ± 18.3 years with OSD and apparent late-onset bleb leaks following trabeculectomy with mitomycin C between 1998 and 2008. We compared patients diagnosed with leakages before July 2005, who had been treated with separate eye drop solutions containing 0.1% sodium hyaluronate, 50% autologous serum, and 0.3% ofloxacin (sodium hyaluronate and autologous serum group, n = 7, with patients diagnosed from August 2005 to December 2008, who were treated with a combination of eye drops (0.1% sodium hyaluronate, 50% autologous serum, and 0.08% levofloxacin hydrate and eyelid massage and warm compresses for obstructive meibomian gland dysfunction (combination eye drop group, n = 5.Results: Leakage was resolved in one patient (14.3% in the separately treated sodium hyaluronate and autologous serum eye drop group and in five patients (100% in the combination eye drop group (P = 0.015. The period after resolution of leakage with conservative treatment was 23 months in the one eye in the sodium hyaluronate and autologous serum group and 36–61 (mean 52.4 ± 10.1 months in the five eyes in the

  20. Swedish CDKN2A mutation carriers do not present the atypical mole syndrome phenotype. (United States)

    Nielsen, Kari; Harbst, Katja; Måsbäck, Anna; Jönsson, Göran; Borg, Ake; Olsson, Håkan; Ingvar, Christian


    Phenotypic characteristics were examined in melanoma-prone southern Swedish CDKN2A (p16-113insArg/p14ARF-128insSer) mutation families, in relation to the CDKN2A genotype, nevi, clinically atypical nevi (CAN) and melanoma. Individuals from eight melanoma-prone families, with index patients carrying the CDKN2A mutation, were offered skin examinations and genotyping (CDKN2A and MC1R). Ninety-three individuals above 18 years of age participated; 29 invasive melanomas in 16 patients were recorded, all in the 38 verified CDKN2A mutation carriers. Median age at diagnosis was 36 years. Several MC1R variants were observed. A significant correlation to CAN (P=0.01) and red hair colour (P=0.02) could be confirmed in melanoma patients. A positive mutation status (CDKN2A) was correlated to one or more CAN (P=0.007) but neither to blue eyes, red hair colour, heavy freckling nor high number of nevi. For mutation carriers, median total naevus count was 24 and interquartile range was 12-47 (mean 31); whereas for the whole cohort, median total naevus count was 12 and interquartile range was 5-25 (mean 22). No participant fulfilled the atypical mole syndrome phenotype criteria. Melanomas were diagnosed only in mutation carriers, and melanoma diagnosis was statistically correlated to the presence of one or more CAN and red hair colour, supporting the possible synergistic effect of a MC1R mutation on increased risk of melanoma in patients with a CDKN2A mutation. Family history, with verified tumour diagnoses, remains an important clinical tool for finding mutation carriers for referral to clinical geneticists and simultaneous presence of CAN in probable mutation carriers might strengthen this indication. The atypical mole syndrome phenotype was, however, not verified in the studied families and total naevus counts were low.

  1. Modeling the Excess Cell Surface Stored in a Complex Morphology of Bleb-Like Protrusions.

    Directory of Open Access Journals (Sweden)

    Maryna Kapustina


    Full Text Available Cells transition from spread to rounded morphologies in diverse physiological contexts including mitosis and mesenchymal-to-amoeboid transitions. When these drastic shape changes occur rapidly, cell volume and surface area are approximately conserved. Consequently, the rounded cells are suddenly presented with a several-fold excess of cell surface whose area far exceeds that of a smooth sphere enclosing the cell volume. This excess is stored in a population of bleb-like protrusions (BLiPs, whose size distribution is shown by electron micrographs to be skewed. We introduce three complementary models of rounded cell morphologies with a prescribed excess surface area. A 2D Hamiltonian model provides a mechanistic description of how discrete attachment points between the cell surface and cortex together with surface bending energy can generate a morphology that satisfies a prescribed excess area and BLiP number density. A 3D random seed-and-growth model simulates efficient packing of BLiPs over a primary rounded shape, demonstrating a pathway for skewed BLiP size distributions that recapitulate 3D morphologies. Finally, a phase field model (2D and 3D posits energy-based constitutive laws for the cell membrane, nematic F-actin cortex, interior cytosol, and external aqueous medium. The cell surface is equipped with a spontaneous curvature function, a proxy for the cell surface-cortex couple, that is a priori unknown, which the model "learns" from the thin section transmission electron micrograph image (2D or the "seed and growth" model image (3D. Converged phase field simulations predict self-consistent amplitudes and spatial localization of pressure and stress throughout the cell for any posited stationary morphology target and cell compartment constitutive properties. The models form a general framework for future studies of cell morphological dynamics in a variety of biological contexts.

  2. Blunt needle revision with viscoelastic materials via the anterior chamber for early failed filtering blebs after trabeculectomy

    Directory of Open Access Journals (Sweden)

    Yamagami H


    Full Text Available Nozomi Kinoshita, Ayumi Ota, Fumihiko Toyoda, Hiroko Yamagami, Akihiro KakehashiDepartment of Ophthalmology, Saitama Medical Center, Jichi Medical University, Saitama, JapanPurpose: To report a new technique of blunt needle revision with viscoelastic materials via the anterior chamber for the treatment of early failed filtering blebs and elevated intraocular pressure after trabeculectomy, in which digital ocular massage and laser suture lysis have been ineffective.Methods: A 27-gauge blunt needle attached to a syringe containing viscoelastic material was inserted into the anterior chamber from the inferior paracentesis. The needle tip was inserted into the subscleral flap space from the filtering fistula at the anterior chamber side, and the scleral flap was lifted bluntly. The needle tip was then inserted into the subconjunctival space where the viscoelastic agent was injected and the adhesion between the sclera and conjunctiva was separated bluntly. Blunt needle revision via the anterior chamber was performed 14 times in six eyes of six patients at Saitama Medical Center, Jichi Medical University from January 2007 to May 2009. All procedures were performed within 1 month after trabeculectomy.Results: The intraocular pressure remained 21 mmHg or lower for more than 6 months in three of six eyes. Slight bleeding from the iris occurred in one of the 14 procedures, and hypotony (intraocular pressure below 5 mmHg occurred in one of the 14 procedures. No serious complications developed.Conclusion: Blunt needle revision via the anterior chamber for early failed filtering blebs is a new, simple, and safe procedure.Keywords: glaucoma, trabeculectomy, filtering bleb, needle revision, blunt needle

  3. Genetic disruption of calpain correlates with loss of membrane blebbing and differential expression of RhoGDI-1, cofilin and tropomyosin

    DEFF Research Database (Denmark)

    Larsen, Anna Karina; Lametsch, Rene; Elce, John S.


    Dynamic regulation of the actin-cytoskeleton is essential to cell motility, spreading, and the formation of membrane surface extensions like lamellipodia, ruffles and blebs. The ubiquitous calpains contribute to integrin-mediated cytoskeletal remodelling during cell migration and spreading, by cl...

  4. Assessment of Filtration Bleb and Endplate Positioning Using Magnetic Resonance Imaging in Eyes Implanted with Long-Tube Glaucoma Drainage Devices.

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    Ichiya Sano

    Full Text Available To evaluate ocular fluid filtration and endplate positioning in glaucomatous eyes with long-tube glaucoma drainage devices (GDDs using magnetic resonance imaging (MRI and the effects of various factors on postoperative intraocular pressure (IOP.This observational case series included 27 consecutive glaucomatous eyes (18 men, 7 women; mean age ± standard error, 63.0±2.0 years who underwent GDD implantation (n = 8 Ahmed Glaucoma Valves [AGV] and n = 19 Baerveldt Glaucoma Implants [BGI]. Tubes were inserted into the pars plana in 23 eyes and anterior chamber in 4 eyes. Six months postoperatively, high-resolution orbital images were obtained using 3-Tesla MRI with head-array coils, and the filtering bleb volume, bleb height, and distances between the anterior endplate edge and corneal center or limbus or between the endplate and orbital wall were measured.In MR images obtained by three-dimensional fast imaging employing steady-state acquisition (3D-FIESTA sequences, the shunt endplate was identified as low-intensity signal, and the filtering bleb was identified as high-intensity signals above and below the endplate in all eyes. The 6-month-postoperative IOP level was correlated negatively with bleb volume (r = -0.4510, P = 0.0182 and bleb height (r = -0.3954, P = 0.0412. The postoperative IOP was significantly (P = 0.0026 lower in BGI-implanted eyes (12.2±0.7 mmHg than AGV-implanted eyes (16.7±1.2 mmHg; bleb volume was significantly (P = 0.0093 larger in BGI-implanted eyes (478.8±84.2 mm3 than AGV-implanted eyes (161.1±52.3 mm3. Other parameters did not differ.The presence of intraorbital/periocular accumulation of ocular fluid affects postoperative IOP levels in eyes implanted with long-tube GDDs. Larger filtering blebs after BGI than AGI implantations explain lower postoperative IOP levels achieved with BGI than AGV. The findings will contribute to better understanding of IOP reducing mechanism of long-tube GDDs.

  5. Be vigilant for skin manifestations of inherited cancer syndromes. (United States)

    Tidman, Alice SM


    More than 200 hereditary cancer susceptibility syndromes have been described, and it is thought that they account for 5-10% of all cancers. Many have dermatological manifestations (usually lesions, occasionally rashes) which frequently precede other systemic pathology. Dermatological signs are usually non-specific and often trivial in appearance, making their significance easy to overlook and a clinical diagnosis challenging. Histological examination is often required to differentiate lesions. They are usually benign and pathologically unrelated to the primary tumours, with the exception of the atypical moles of the dysplastic naevus syndrome, and may present simply as a cosmetic problem for the patient. However, a number of cancer syndromes exhibit an increased risk of developing malignant skin lesions. For instance, Gorlin syndrome (nevoid basal cell carcinoma syndrome) which typically results in the development of multiple basal cell carcinomas, within the first few decades of life. The majority of cancer syndromes with skin signs are inherited in an autosomal dominant pattern demonstrating complete penetrance before the age of 70. Once a cancer syndrome has been diagnosed, the cornerstone of management is frequent surveillance for the early detection and treatment of malignancy. Genetic testing and counselling should be offered to family members.

  6. Infiltrating giant cellular blue naevus. (United States)

    Bittencourt, A L; Monteiro, D A; De Pretto, O J


    Cellular blue naevi (CBN) measure 1-2 cm in diameter and affect the dermis, occasionally extending into the subcutaneous fat. The case of a 14-year-old boy with a giant CBN (GCBN) involving the right half of the face, the jugal mucosa and the lower eyelid with a tumour that had infiltrated the bone and the maxillary and ethmoidal sinuses is reported. Biopsies were taken from the skin, jugal mucosa and maxillary sinus. The following markers were used in the immunohistochemical evaluation: CD34, CD56, HMB-45, anti-S100, A-103, Melan A and MIB-1. The biopsy specimens showed a biphasic pattern affecting the lower dermis, subcutaneous fat, skeletal muscle, bone, jugal mucosa and maxillary sinus, but there was no histological evidence of malignancy. The tumour cells were CD34-, CD56-, HMB45+, anti-S100+ and A-103+. Melan A was focally expressed. No positive MIB-1 cells were identified. The present case shows that GCBN may infiltrate deeply, with no evidence of malignancy.

  7. Expression of Tau Produces Aberrant Plasma Membrane Blebbing in Glial Cells Through RhoA-ROCK-Dependent F-Actin Remodeling. (United States)

    Torres-Cruz, Francisco M; Rodríguez-Cruz, Fanny; Escobar-Herrera, Jaime; Barragán-Andrade, Norma; Basurto-Islas, Gustavo; Ripova, Daniela; Ávila, Jesús; Garcia-Sierra, Francisco


    Abnormal aggregation of Tau in glial cells has been reported in Alzheimer's disease (AD) and other tauopathies; however, the pathological significance of these aggregates remains unsolved to date. In this study, we evaluated whether full-length Tau (Tau441) and its aspartic acid421-truncated Tau variant (Tau421) produce alterations in the normal organization of the cytoskeleton and plasma membrane (PM) when transiently expressed in cultured C6-glial cells. Forty-eight hours post-transfection, abnormal microtubule bundling was observed in the majority of the cells, which expressed either Tau441 or Tau421. Moreover, both variants of Tau produced extensive PM blebbing associated with cortical redistribution of filamentous actin (F-Actin). These effects were reverted when Tau-expressing cells were incubated with drugs that depolymerize F-Actin. In addition, when glial cells showing Tau-induced PM blebbing were incubated with inhibitors of the Rho-associated protein kinase (ROCK) signaling pathway, both formation of abnormal PM blebs and F-Actin remodeling were avoided. All of these effects were initiated upstream by abnormal Tau-induced microtubule bundling, which may release the microtubule-bound guanine nucleotide exchange factor-H1 (GEF-H1) into the cytoplasm in order to activate its major effector RhoA-GTPase. These results may represent a new mechanism of Tau toxicity in which Tau-induced microtubule bundling produces activation of the Rho-GTPase-ROCK pathway that in turn mediates the remodeling of cortical Actin and PM blebbing. In AD and other tauopathies, these Tau-induced abnormalities may occur and contribute to the impairment of glial activity.

  8. Substance P induces rapid and transient membrane blebbing in U373MG cells in a p21-activated kinase-dependent manner.

    Directory of Open Access Journals (Sweden)

    John Meshki

    Full Text Available U373MG astrocytoma cells endogenously express the full-length neurokinin 1 receptor (NK1R. Substance P (SP, the natural ligand for NK1R, triggers rapid and transient membrane blebbing and we report that these morphological changes have different dynamics and intracellular signaling as compared to the changes that we have previously described in HEK293-NK1R cells. In both cell lines, the SP-induced morphological changes are Gq-independent, and they require the Rho, Rho-associated coiled-coil kinase (ROCK signaling pathway. Using confocal microscopy we have demonstrated that tubulin is phosphorylated subsequent to cell stimulation with SP and that tubulin accumulates inside the blebs. Colchicine, a tubulin polymerization inhibitor, blocked SP-induced blebbing in U373MG but not in HEK293-NK1R cells. Although p21-activated kinase (PAK is expressed in both cell lines, SP induced rapid phosphorylation of PAK in U373MG, but failed to phosphorylate PAK in HEK293-NK1R cells. The cell-permeable Rho inhibitor C3 transferase inhibited SP-induced PAK phosphorylation, but the ROCK inhibitor Y27632 had no effect on PAK phosphorylation, suggesting that Rho activates PAK in a ROCK-independent manner. Our study demonstrates that SP triggers rapid changes in cell morphology mediated by distinct intracellular signaling mechanisms in U373MG versus HEK293-NK1R cells.

  9. Melanosome transfer to keratinocyte in the chicken embryonic skin is mediated by vesicle release associated with Rho-regulated membrane blebbing. (United States)

    Tadokoro, Ryosuke; Murai, Hidetaka; Sakai, Ken-Ichiro; Okui, Takahiro; Yokota, Yasuhiro; Takahashi, Yoshiko


    During skin pigmentation in amniotes, melanin synthesized in the melanocyte is transferred to keratinocytes by a particle called the melanosome. Previous studies, mostly using dissociated cultured cells, have proposed several different models that explain how the melanosome transfer is achieved. Here, using a technique that labels the plasma membrane of melanocytes within a three-dimensional system that mimics natural tissues, we have visualized the plasma membrane of melanocytes with EGFP in chicken embryonic skin. Confocal time-lapse microscopy reveals that the melanosome transfer is mediated, at least in part, by vesicles produced by plasma membrane. Unexpectedly, the vesicle release is accompanied by the membrane blebbing of melanocytes. Blebs that have encapsulated a melanosome are pinched off to become vesicles, and these melanosome-containing vesicles are finally engulfed by neighboring keratinocytes. For both the membrane blebbing and vesicle release, Rho small GTPase is essential. We further show that the membrane vesicle-mediated melanosome transfer plays a significant role in the skin pigmentation. Given that the skin pigmentation in inter-feather spaces in chickens is similar to that in inter-hair spaces of humans, our findings should have important consequences in cosmetic medicine.

  10. Simultaneous utilization of different nuclear medical examinations in a patient with Klippel-Trenaunay syndrome - vs. proteus syndrome; Simultaner Einsatz verschiedener nuklearmedizinischer Verfahren bei Klippel-Trenaunay-Syndrom - vs. Proteus-Syndrom

    Energy Technology Data Exchange (ETDEWEB)

    Rink, T.; Baum, R.P.; Hoer, G. [Klinik fuer Nuklearmedizin des Zentrums der Radiologie, Johann Wolfgang Goethe-Universitaet, Frankfurt am Main (Germany); Menzel, I.; Niemczyk, M.; Kaufmann, R. [Zentrum fuer Dermatologie und Venerologie, Johann Wolfgang Goethe-Universitaet, Frankfurt am Main (Germany); Fuchs, S. [Inst. fuer Humangenetik, Johann Wolfgang Goethe-Universitaet, Frankfurt am Main (Germany); Heller, K. [Zentrum fuer Chirurgie, Johann Wolfgang Goethe-Universitaet, Frankfurt am Main (Germany)


    A three-year-old male patient presented already at his birth a disproportional macrosomia of the left foot and a large, nodular nevus flammeus, in the left hip region, which led to the tentative diagnosis of a Klippel-Trenaunay syndrome. In the following years, both changes showed a continuous progression, with distinct soft-tissue swelling as well as papillomatous and verruciform vegetations of the nevus. Additionally, large, plain subcutaneous masses developed under the right shoulder, and a macrodactyly of the first and second left toe could be observed. Although several examinations had been performed in the meantime, the tentative diagnosis could not be confirmed up to that time. On the occasion of a severe local infection in the hip region, which led to the consideration of a surgical therapy, a radionuclide lymphography, a blood pool scintigraphy including dynamic phlebography and ventriculography as well as a bone scintigraphy were performed. These examinations were done simultaneously at one day in order to avoid a longer period of immobilization. The findings led to the diagnosis of a large lymphangioma, which could be confirmed histologically after surgery. In consideration of all results, the basic disorder seems to be the rare proteus syndrome rather than a Klippel-Trenaunay syndrome. (orig.) [Deutsch] Bei einem dreijaehrigen Jungen fiel bereits bei der Geburt ein dysproportionierter Ueberwuchs des linken Fusses sowie ein grosser Naevus flammeus mit nodulaeren Veraenderungen im Bereich der linken Huefte auf, so dass der Verdacht auf ein Klippel-Trenaunay-Syndrom geaeussert wurde. Im Laufe der weiteren Entwicklung kam es zu einer kontinuierlichen Progredienz dieser Befunde, mit deutlicher Weichteilschwellung sowie papillomatoesen und verruziformen Vegetationen des Naevus. Darueber hinaus entwickelte sich auch unterhalb der rechten Schulter eine grossflaechige, flache Raumforderung sowie eine Makrodaktylie der I. und II. Zehe links. Trotz zahlreicher

  11. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    Mayekar Avinash


    Full Text Available A 2½-year-old male child born of a nonconsanguineous marriage with high parental age presented with macrodactyly, dysmorphic features, large disfiguring lipomas, small fibromas, a linear verrucous epidermal naevus and lymphangioma circumscriptum. X-ray of hand revealed macrodystrophia lipomatosa progressiva. A lipoma and lymphangioma circumscriptum were confirmed by histopathology. The cosmetically disfiguring lipomas were excised. This is the first case report from India with the characteristic macrodactyly. This could possibly be the first case of report of a mutational disorder following intake of carbimazole during pregnancy.

  12. Assessment of thermal effects in a model of the human head implanted with a wireless active microvalve for the treatment of glaucoma creating a filtering bleb (United States)

    Schaumburg, F.; Guarnieri, F. A.


    A 3D anatomical computational model is developed to assess thermal effects due to exposure to the electromagnetic field required to power a new investigational active implantable microvalve for the treatment of glaucoma. Such a device, located in the temporal superior eye quadrant, produces a filtering bleb, which is included in the geometry of the model, together with the relevant ocular structures. The electromagnetic field source—a planar coil—as well as the microvalve antenna and casing are also included. Exposure to the electromagnetic field source of an implanted and a non-implanted subject are simulated by solving a magnetic potential formulation, using the finite element method. The maximum SAR10 is reached in the eyebrow and remains within the limits suggested by the IEEE and ICNIRP standards. The anterior chamber, filtering bleb, iris and ciliary body are the ocular structures where more absorption occurs. The temperature rise distribution is also obtained by solving the bioheat equation with the finite element method. The numerical results are compared with the in vivo measurements obtained from four rabbits implanted with the microvalve and exposed to the electromagnetic field source.

  13. Prostate-derived sterile 20-like kinase 1-alpha induces apoptosis. JNK- and caspase-dependent nuclear localization is a requirement for membrane blebbing. (United States)

    Zihni, Ceniz; Mitsopoulos, Costas; Tavares, Ignatius A; Baum, Buzz; Ridley, Anne J; Morris, Jonathan D H


    We have demonstrated previously that full-length prostate-derived sterile 20-like kinase 1-alpha (PSK1-alpha) binds to microtubules via its C terminus and regulates their organization and stability independently of its catalytic activity. Here we have shown that apoptotic and microtubule-disrupting agents promote catalytic activation, C-terminal cleavage, and nuclear translocation of endogenous phosphoserine 181 PSK1-alpha and activated N-terminal PSK1-alpha-induced apoptosis. PSK1-alpha, unlike its novel isoform PSK1-beta, stimulated the c-Jun N-terminal kinase (JNK) pathway, and the nuclear localization of PSK1-alpha and its induction of cell contraction, membrane blebbing, and apoptotic body formation were dependent on JNK activity. PSK1-alpha was also a caspase substrate, and the broad spectrum caspase inhibitor benzyloxycarbonyl-VAD-fluoromethyl ketone or mutation of a putative caspase recognition motif ((916)DPGD(919)) blocked nuclear localization of PSK1-alpha and its induction of membrane blebs. Additional inhibition of caspase 9 was needed to prevent cell contraction. PSK1-alpha is therefore a bifunctional kinase that associates with microtubules, and JNK- and caspase-mediated removal of its C-terminal microtubule-binding domain permits nuclear translocation of the N-terminal region of PSK1-alpha and its induction of apoptosis.

  14. Intoxication of host cells by the T3SS phospholipase ExoU: PI(4,5)P2-associated, cytoskeletal collapse and late phase membrane blebbing. (United States)

    Sato, Hiromi; Frank, Dara W


    Pseudomonas aeruginosa is an opportunistic pathogen that is associated with hospital-acquired infections, ventilator-associated pneumonia, and morbidity of immunocompromised individuals. A subpopulation of P. aeruginosa encodes a protein, ExoU, which exhibits acute cytotoxicity. Toxicity is directly related to the phospholipase A2 activity of the protein after injection into the host cytoplasm via a type III secretion system. ExoU enzymatic activity requires eukaryotic cofactors, ubiquitin or ubiquitin-modified proteins. When administered extracellularly, ExoU is unable to intoxicate epithelial cells in culture, even in the presence of the cofactor. Injection or transfection of ExoU is necessary to observe the acute cytotoxic response. Biochemical approaches indicate that ExoU possesses high affinity to a multifunctional phosphoinositide, phosphatidylinositol 4,5-bisphosphate or PI(4,5)P2 and that it is capable of utilizing this phospholipid as a substrate. In eukaryotic cells, PI(4,5)P2 is mainly located in the cytoplasmic side of the plasma membrane and anchors adaptor proteins that are involved in cytoskeletal structures, focal adhesions, and plasma membranes. Time-lapse fluorescent microscopy analyses of infected live cells demonstrate that ExoU intoxication correlates with intracellular damage in the early phases of infection, such as disruption of focal adhesions, cytoskeletal collapse, actin depolymerization, and cell rounding. At later time points, a membrane blebbing phenotype was prominent prior to the loss of the plasma membrane integrity and barrier function. Membrane blebbing appears to accelerate membrane rupture and the release of intracellular markers. Our data suggest that in eukaryotic host cells, intracellular ExoU targets and hydrolyzes PI(4,5)P2 on the plasma membrane, causing a subsequent disruption of cellular structures and membrane integrity.

  15. Anaesthesia and Beckwith - Weideman Syndrome

    African Journals Online (AJOL)


    riod, or cor pulmonale secondary to upper airway obstruction may develop later in childhood. The typical facial features include macroglossia(Fig 1); a capil- lary haem-angioma on the central forehead, often described as flame shaped, flammeus naevus; and linear creases on the earlobe(Fig 2). Indentations of the external ...

  16. Revisión con agujas y uso de mitomicina C en bulas de filtración encapsuladas Needle revision and use of Mitomycin-C to manage encapsulated filtering blebs

    Directory of Open Access Journals (Sweden)

    Francisco Fumero González


    Full Text Available La trabeculectomía es uno de los tratamientos de elección en los pacientes con glaucoma. La causa más común de fallo de esta cirugía en su primer trimestre es la bula de filtración encapsulada. Usualmente es resultado de la proliferación fibrótica subconjuntival que lleva a fallo de la bula, como por ejemplo en los glaucomas traumáticos. La revisión con agujas y la mitomicina C constituyen una opción efectiva y relativamente segura para restaurar la función de la cirugía de filtración. Se presenta un paciente donde se restableció el flujo de humor acuso con este proceder.Trabeculectomy is the surgical treatment of choice for many patients with glaucoma. The most common cause of failure during the first trimester after trabeculectomy is encapsulated bleb. Generally, that results from scarring in the subconjunctival space with a resultant intrableb fibrosis and the development of a failed bleb, for example in traumatic glaucoma. Needling bleb revision with mitomycin-C appears to be an effective and relatively safe way to revive the function of the filtration surgery. This was the case report of a patient whose aqueous humor flow was reestablished with this treatment.

  17. Wortmannin induces MCF-7 breast cancer cell death via the apoptotic pathway, involving chromatin condensation, generation of reactive oxygen species, and membrane blebbing

    Directory of Open Access Journals (Sweden)

    Akter R


    Full Text Available Rozina Akter,1 Md. Zakir Hossain,2 Maurice G Kleve,3 Michael A Gealt31Applied Biosciences Emphasis, Department of Applied Science, 2Graduate Institute of Technology, 3Department of Biology, College of Science and of Mathematics, University Arkansas at Little Rock, Little Rock, AR, USABackground: Apoptosis can be used as a reliable marker for evaluating potential chemotherapeutic agents. Because wortmannin is a microbial steroidal metabolite, it specifically inhibits the phosphatidyl inositol 3-kinase pathway, and could be used as a promising apoptosis-based therapeutic agent in the treatment of cancer. The objective of this study was to investigate the biomolecular mechanisms involved in wortmannin-induced cell death of breast cancer-derived MCF-7 cells.Methods and results: Our experimental results demonstrate that wortmannin has strong apoptotic effects through a combination of different actions, including reduction of cell viability in a dose-dependent manner, inhibition of proliferation, and enhanced generation of intracellular reactive oxygen species.Conclusion: Our findings suggest that wortmannin induces MCF-7 cell death via a programmed pathway showing chromatin condensation, nuclear fragmentation, reactive oxygen species, and membrane blebbing, which are characteristics typical of apoptosis.Keywords: wortmannin, human breast adenocarcinoma, apoptosis, reactive oxygen species, flow cytometry

  18. Serotonin syndrome (United States)

    Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... brain area. For example, you can develop this syndrome if you take migraine medicines called triptans together ...

  19. Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. (United States)

    Zhou, X P; Marsh, D J; Hampel, H; Mulliken, J B; Gimm, O; Eng, C


    Germline PTEN mutations cause Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR), two hamartoma-tumour syndromes, and somatic PTEN alterations have been shown to participate, to a greater or lesser extent, in a wide variety of sporadic neoplasia. PTEN is a tumour suppressor and dual-specificity phosphatase which affects apoptosis via its lipid phosphatase activity in the phosphoinositol-3-kinase and AKT pathway as well as inhibiting cell spreading via the focal adhesion kinase pathway. CS and BRR share some features, such as hamartomas and lipomatosis. To determine whether other syndromes characterized by overgrowth and lipomas are part of the PTEN syndrome spectrum, we ascertained six individuals with overgrowth and lipomas but who did not meet the diagnostic criteria for CS or BRR. Five had Proteus syndrome and one, a Proteus-like syndrome. When germline DNA and DNA from at least one involved tissue per case were examined for PTEN mutations, only the Proteus-like patient was found to harbour a germline R335X mutation. Interestingly, a lipomatous mass, an epidermoid naevus and arteriovenous malformation tissue, all of which were sampled from physically distinct sites, were all found to carry a second hit R130X mutation on the allele opposite the germline R335X. Both mutations have been described in CS and BRR. We postulate that the second hit, R130X, occurred early in embryonic development and may even represent germline mosaicism. Thus, PTEN may be involved in Proteus-like syndrome with its implications for cancer development in the future.

  20. Beals Syndrome (United States)

    ... the syndrome. How does Beals syndrome compare with Marfan syndrome? People with Beals syndrome have many of the ... bone) and aortic enlargement problems as people with Marfan syndrome, and treatments for these problems are the same. ...

  1. Fanconi syndrome (United States)

    De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome in ...

  2. Duane Syndrome (United States)

    ... Frequently Asked Questions Español Condiciones Chinese Conditions Duane Syndrome En Español Read in Chinese What is Duane Syndrome? Duane syndrome, also called Duane retraction syndrome (DRS), ...

  3. Hunter Syndrome (United States)

    ... in girls. There's no cure for Hunter syndrome. Treatment of Hunter syndrome involves management of symptoms and complications. Symptoms Hunter syndrome is one type of a group of inherited metabolic disorders called mucopolysaccharidoses (MPSs), and Hunter syndrome is ...

  4. Hamartomatous polyposis syndromes

    DEFF Research Database (Denmark)

    Jelsig, Anne Marie; Qvist, Niels; Brusgaard, Klaus


    Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as ......Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes...

  5. Marfan Syndrome (United States)

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood ... fibrillin. A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and ...


    African Journals Online (AJOL)


    BILATERAL BENIGN HAEMORRHAGIC ADRENAL CYSTS IN BECKWITH - WIEDEMANN. SYNDROME: CASE REPORT. P. ANOOP and M. A. ANJAY. SUMMARY. Beckwith-Wiedemann syndrome is the most common overgrowth malformation syndrome. The classical features include macrosomia, macroglossia, ...

  7. Tourette syndrome (United States)

    Gilles de la Tourette syndrome; Tic disorders - Tourette syndrome ... Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885. The disorder is likely passed down through families. ...

  8. Williams syndrome (United States)

    Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. It may be passed down in families. ... history of the condition. However, people with Williams syndrome have a 50% chance of passing the disorder ...

  9. Piriformis Syndrome (United States)

    ... the National Library of Medicine’s MedlinePlus Piriformis Syndrome Metabolic Syndrome Show More Show Less Search Disorders SEARCH SEARCH Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Piriformis syndrome ...

  10. Revisión por aguja de la bula de filtración, una alternativa terapéutica en pacientes trabeculectomizados Needle review of the filtering bleb as an alternative in the treatment of patients undergoing trabeculectomy

    Directory of Open Access Journals (Sweden)

    Elizabeth Arzuaga Hernández


    Full Text Available La trabeculectomía es generalmente un procedimiento exitoso para reducir la presión intraocular en pacientes con glaucoma. Sin embargo, el fallo de la ampolla de filtración puede ocurrir y provocar un incremento de la presión intraocular. Esto conllevaría a una intervención médica o quirúrgica adicional. Se realiza una revisión bibliográfica sobre la cistitomía transconjuntival, asociada al uso de antimetabolitos (mitomicina C o 5-fluorouracilo o no. Se demuestra que es mínimamente invasiva, con escasas complicaciones y que constituye un método eficaz, fácil y barato para restablecer el drenaje acuoso y disminuir la presión intraocular.Trabeculectomy is usually a successful procedure to reduce intraocular pressure in glaucoma patients. However, the failure of the filtering bleb can occur, leading to increased intraocular pressure and to a further medical or surgical intervention. A literature review on transconjunctival cystotomy, with or without the use of mitomycin C or 5-fluorouracil, was made. It was demonstrated that this method is minimally invasive with few complications, effective, easy-to-apply and inexpensive to restore aqueous drainage and lowering intraocular pressure.

  11. Birt-Hogg-Dube syndrome: clinicopathological features of the lung. (United States)

    Furuya, Mitsuko; Nakatani, Yukio


    Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant inherited disorder characterised by fibrofolliculomas, renal tumours, pulmonary cysts and pneumothorax. The pulmonary cysts and repeated episodes of pneumothorax are the clinical hallmarks for discovering families affected by the syndrome. This disorder is caused by mutations in the gene coding for folliculin (FLCN). FLCN forms a complex with FLCN-interacting protein 1 (FNIP1) and FNIP2 (also known as FNIPL), and the complex cross-talks with signalling molecules such as 5'-AMP-activated protein kinase (AMPK) and the mammalian target of rapamycin (mTOR). Heterozygous Flcn knockout mice and rats with Flcn gene mutations develop renal cysts, adenomas and/or carcinomas. These findings suggest that FLCN functions as a tumour suppressor that inhibits renal carcinogenesis. However, the mechanisms of the formation of pulmonary cysts and pneumothorax associated with heterozygous mutations in FLCN are poorly understood. Resected lung specimens from patients with BHD are often misdiagnosed by pathologists as non-specific blebs or bullae or emphysema, and patients with BHD who have pulmonary cysts and repeated pneumothorax frequently do not receive appropriate medical investigations. This review discusses the clinical and pathological features of lungs of patients with BHD, focusing on the diagnostic pathology and possible mechanisms of cyst formation.

  12. Myelodysplastic Syndromes (United States)

    ... blood cells, and the cells have a specific mutation in their DNA. Myelodysplastic syndrome with excess blasts — ... Chemicals linked to myelodysplastic syndromes include tobacco smoke, pesticides and industrial chemicals, such as benzene. Exposure to ...

  13. Moebius Syndrome (United States)

    ... and supports a broad range of research on neurogenetic disorders, including Moebius syndrome. The goals of these ... and supports a broad range of research on neurogenetic disorders, including Moebius syndrome. The goals of these ...

  14. Pendred Syndrome (United States)

    ... scan) to look for two characteristics of Pendred syndrome. One characteristic might be a cochlea with too few turns. ... Inner Ear Credit: NIH Medical Arts A second characteristic of Pendred syndrome is an enlarged vestibular aqueduct (see figure). The ...

  15. Rett Syndrome (United States)

    Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and ...

  16. Ohtahara Syndrome (United States)

    ... but be profoundly handicapped. As they grow, some children will progress into other epileptic disorders such as West syndrome and Lennox-Gestaut syndrome. What research is being done? The NINDS conducts and supports an extensive research program on seizures ...

  17. Gardner's syndrome

    International Nuclear Information System (INIS)

    Sobrado Junior, C.W.; Bresser, A.; Cerri, G.G.; Habr-Gama, A.; Pinotti, H.W.; Magalhaes, A.


    A case of familiar poliposis of colon related to a right mandibular osteoma is reported (this association is usually called Gardner's syndrome). Radiologic pictures ae shown and some commentaries about this syndrome concerning the treatment are made. (author) [pt

  18. Turner Syndrome (United States)

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete X ... work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  19. Metabolic Syndrome (United States)

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These conditions ... agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

  20. Felty syndrome (United States)

    Seropositive rheumatoid arthritis (RA); Felty's syndrome ... The cause of Felty syndrome is unknown. It is more common in people who have had rheumatoid arthritis (RA) for a long time. People with ...

  1. Cushing's Syndrome (United States)

    Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a hormone that ... your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper body obesity ...

  2. Usher Syndrome (United States)

    Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder that causes ... and vision. There are three types of Usher syndrome: People with type I are deaf from birth ...

  3. Piriformis syndrome (United States)

    Pseudosciatica; Wallet sciatica; Hip socket neuropathy; Pelvic outlet syndrome; Low back pain - piriformis ... Sciatica is the main symptom of piriformis syndrome. Other symptoms include: Tenderness or a dull ache in ...

  4. Dressler's Syndrome (United States)

    ... syndrome Overview Dressler's syndrome is a type of pericarditis — inflammation of the sac surrounding the heart (pericardium). ... reducing its ability to pump blood efficiently. Constrictive pericarditis. Recurring or chronic inflammation can cause the pericardium ...

  5. International Rett Syndrome Foundation (United States)

    ... Newsletters & Reports About Rett Syndrome What is Rett Syndrome? Rett Syndrome Diagnosis Boys with MECP2 Clinics FAQs Glossary ... Newsletters & Reports About Rett Syndrome What is Rett Syndrome? Rett Syndrome Diagnosis Boys with MECP2 Clinics FAQs Glossary ...

  6. [Capgras syndrome]. (United States)

    Alcoverro Fortuny, O; Sierra Acín, A C


    The authors report a case of Capgras' syndrome in a 16-years-old child, who had been hospitalized for psychotic disorder. A review of the literature is performed. Most authors state that Capgras' syndrome would represent a symptom of underlying medical o functional disorders, although the term syndrome is used. The main etiopathogenic hypothesis of this syndrome are put forward (psychodynamic, disconnection, neuropsychological and medical).

  7. Velocardiofacial Syndrome (United States)

    Gothelf, Doron; Frisch, Amos; Michaelovsky, Elena; Weizman, Abraham; Shprintzen, Robert J.


    Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the…

  8. Inflammatory linear verrucous epidermal naevus: Report of three ...

    African Journals Online (AJOL)

    Background: Epidermal naevi are congenital harmatomas that arise from embryonal ectodermal cells. The inflammatory linear verrucous variant is rare and presents with disturbing symptoms. In blacks the classical erythema is not common but pruritus and discharge are the commonest features. Methods and results: We ...

  9. Revesz syndrome

    Directory of Open Access Journals (Sweden)

    Dayane Cristine Issaho


    Full Text Available Revesz syndrome is a rare variant of dyskeratosis congenita and is characterized by bilateral exudative retinopathy, alterations in the anterior ocular segment, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation. Few patients with this syndrome have been reported, and significant clinical variations exist among patients. This report describes the first Brazilian case of Revesz syndrome and its ocular and clinical features.

  10. Gorlin syndrome

    Directory of Open Access Journals (Sweden)

    Basanti Devi


    Full Text Available Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis.

  11. Urofacial syndrome

    Directory of Open Access Journals (Sweden)

    Kamal F Akl


    Full Text Available The urofacial syndrome is characterized by functional obstructive uropathy asso-ciated with an inverted smile. The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. We report a 10-year-old-male patient who had the urofacial syndrome. Early diagnosis of the urofacial syndrome is important to avoid upper urinary tract damage and renal failure.

  12. Joubert Syndrome (United States)

    ... syndrome is inherited in an autosomal recessive manner (meaning both parents must have a copy of ... physical, occupational, and speech therapy may benefit some children. Infants with abnormal ...

  13. Reye's Syndrome (United States)

    ... that contain aspirin. Some hospitals and medical facilities conduct newborn screenings for fatty acid oxidation disorders to determine which children are at greater risk of developing Reye's syndrome. ...

  14. Angelman Syndrome (United States)

    ... See More About Research The NINDS supports and conducts research on neurogenetic disorders such as Angelman syndrome, to develop techniques to diagnose, treat, ... Publications Definition Angelman ...

  15. Russell-Silver syndrome (United States)

    Silver-Russell syndrome; Silver syndrome; RSS; Russell-Silver syndrome ... One in 10 children with this syndrome has a problem involving chromosome 7. In other people with the syndrome, it may affect chromosome 11. Most of the time, it ...

  16. [Ballantyne syndrome or mirror syndrome]. (United States)

    Torres-Gómez, Luis Guillermo; Silva-González, María Eugenia; González-Hernández, Rigoberto


    Ballantyne syndrome or mirror syndrome is a triad consisting of the presence of fetal hydrops, generalized edema placentomegaly mother. May be related to any cause of fetal hydrops. The fetal prognosis is poor in untreated cases, the mother has reference to be the cause or the termination of pregnancy. Present the case of a 26-year-old who developed mirror syndrome secondary to non-immune fetal hydrops of unknown origin, accompanied by preeclampsia.

  17. Antiphospholipid syndrome

    DEFF Research Database (Denmark)

    Cervera, Ricard; Piette, Jean-Charles; Font, Josep


    To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression.......To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression....

  18. Ascher syndrome

    Directory of Open Access Journals (Sweden)

    Zhifang Zhai


    Full Text Available Ascher syndrome is a rare, benign skin disorder characterized by a double upper lip, blepharochalasis, and nontoxic enlargement of the thyroid gland. The exact cause is unknown, but it is considered to be a hereditary disease with an autosomal dominant trait. We report here a case of forme fruste Ascher syndrome in a 29-year-old man.

  19. Passwell syndrome

    Directory of Open Access Journals (Sweden)

    Muhammed K


    Full Text Available There is an expanding list of syndromes that combine ichthyosis with neuroectodermal and mesodermal defects. We report a syndrome of congenital ichthyosis with atrophy, mental retardation, dwarfism, aminoaciduria, primary amenorrhoea and underdeveloped secondary sexual characters in a 38-year-old woman of non consanguinous parentage.

  20. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole


    Lemierre's syndrome is an often un-diagnosed disease seen in previously healthy young subjects, presenting with symptoms of pharyngitis, fever and elevated markers of inflammation. The syndrome is characterised by infectious thrombosis of the jugular vein due to infection with Fusobacteria, causing...

  1. Tourette Syndrome (United States)

    If you have Tourette syndrome, you make unusual movements or sounds, called tics. You have little or no control over them. Common tics are throat- ... spin, or, rarely, blurt out swear words. Tourette syndrome is a disorder of the nervous system. It ...

  2. Fahr's Syndrome (United States)

    ... or 50s, although it can occur at any time in childhood or adolescence. × Definition Fahr's Syndrome is a rare, genetically dominant, inherited ... or 50s, although it can occur at any time in childhood or adolescence. View Full Definition Treatment There is no cure for Fahr's Syndrome, ...

  3. TAFRO Syndrome. (United States)

    Igawa, Takuro; Sato, Yasuharu


    TAFRO syndrome is a newly recognized variant of idiopathic multicentric Castleman disease (iMCD) that involves a constellation of syndromes: thrombocytopenia (T), anasarca (A), fever (F), reticulin fibrosis (R), and organomegaly (O). Thrombocytopenia and severe anasarca accompanied by relatively low serum immunoglobulin levels are characteristic clinical findings of TAFRO syndrome that are not present in iMCD-not otherwise specified (iMCD-NOS). Lymph node biopsy is recommended to exclude other diseases and to diagnose TAFRO syndrome, which reveals characteristic histopathological findings similar to hyaline vascular-type CD. TAFRO syndrome follows a more aggressive course, compared with iMCD-NOS, and there is no standard treatment. Copyright © 2017 Elsevier Inc. All rights reserved.

  4. CHARGE syndrome

    Directory of Open Access Journals (Sweden)

    Prasad Chitra


    Full Text Available Abstract CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness. In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1–1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot occur in 75–80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness. Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child

  5. Bouveret's syndrome

    International Nuclear Information System (INIS)

    Rehman, A.; Hasan, Z.; Saeed, A.; Abdullah, K.


    Gastric Outlet Obstruction (GOO) due to impaction of a gallstone in the duodenum after migration through a bilioduodenal fistula is known as Bouveret's syndrome. Its clinical symptoms are entirely vague and nonspecific. Because of its rarity, insidiousness and unpredictable symptomatology. Bouveret's syndrome is never thought of in the differential diagnosis as aetiology of gastric outlet obstruction. Recent advances in fiberoptics technology, advent of modern imaging modalities and minimally-invasive techniques like endoscopy and laparoscopy has brought a great revolution in the management of Bouveret's syndrome and have tremendously decreased morbidity and mortality associated with this rare clinical entity. (author)

  6. Neuroacanthocytosis Syndromes

    Directory of Open Access Journals (Sweden)

    Walker Ruth H


    Full Text Available Abstract Neuroacanthocytosis (NA syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington´s disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes

  7. Cowden syndrome

    Directory of Open Access Journals (Sweden)

    Ravi Prakash S


    Full Text Available Cowden syndrome or multiple hamartoma syndrome is an autosomal dominant condition with variable expressions that result mainly from mutation in the PTEN gene on arm 10q. It is characterized by multiple hamartomatous neoplasms of the skin, oral mucosa, gastrointestinal tract, bones, CNS, eyes, and genitourinary tract. Mucocutaneous features include trichilemmomas, oral mucosal papillomatosis, acral keratosis, and palmoplantar keratosis. Here we present a case of Cowden syndrome in a 14-year-old female patient with the chief complaint of multiple oral papillomatous lesions.

  8. Premenstrual Syndrome (PMS) FAQ (United States)

    ... Search FAQs Premenstrual Syndrome (PMS) Page Navigation ▼ ACOG Pregnancy Book Premenstrual Syndrome (PMS) Patient Education FAQs Premenstrual Syndrome (PMS) Patient Education Pamphlets - Spanish ...

  9. Reye's Syndrome (United States)

    ... vomiting Diarrhea Reye's syndrome Symptoms & causes Diagnosis & treatment Advertisement Mayo Clinic does not endorse companies or products. ... a Job Site Map About This Site Twitter Facebook Google YouTube Pinterest Mayo Clinic is a not- ...

  10. Turner Syndrome (United States)

    ... girls and women with TS may have low self- esteem, anxiety, or depression. How is Turner syndrome diagnosed? ... to active partners in their health care. This fact sheet is also available in Spanish at www. ...

  11. Alport syndrome (United States)

    ... have equally severe disease. Autosomal dominant Alport syndrome (ADAS) -- This is the rarest type. Males and females ... and girls have hearing loss during childhood. With ADAS, it occurs later in life. Hearing loss usually ...

  12. Sotos Syndrome (United States)

    ... and social development; hypotonia (low muscle tone), and speech impairments. Clumsiness, an awkward gait, and unusual aggressiveness or irritability may also occur. Although most cases of Sotos syndrome occur sporadically (meaning they are not known to be inherited), familial ...

  13. Potter syndrome (United States)

    Potter phenotype ... In Potter syndrome, the primary problem is kidney failure. The kidneys fail to develop properly as the baby is ... kidneys normally produce the amniotic fluid (as urine). Potter phenotype refers to a typical facial appearance that ...

  14. Alport Syndrome (United States)

    ... signs and symptoms may differ, based on age, gender and inherited type of Alport syndrome. For example, ... prevention and treatment of kidney disease. The Better Business Bureau Wise Giving Alliance Charity Seal provides the ...

  15. Gilbert's Syndrome (United States)

    ... doctor before taking new medications. Also, having certain types of Gilbert's syndrome may increase your risk of ... of Nondiscrimination Advertising Mayo Clinic is a not-for-profit organization ...

  16. Compartment syndrome (United States)

    ... term (chronic) compartment syndrome can be caused by repetitive activities, such as running. The pressure in a compartment ... or loosened to relieve the pressure Stopping the repetitive activity or exercise, or changing the way it's done ...

  17. Aicardi Syndrome (United States)

    ... See More About Research The NINDS supports and conducts research on neurogenetic disorders such as Aicardi syndrome. The goals of this research are to locate and understand ... Publications Definition Aicardi ...

  18. Zellweger Syndrome (United States)

    ... swallow. Some babies will be born with glaucoma, retinal degeneration, and impaired hearing. Jaundice and gastrointestinal bleeding also may occur. Treatment There is no cure for Zellweger syndrome, nor ...

  19. Gerstmann's Syndrome (United States)

    ... drawings. Frequently, there is also an impairment in reading. Children with a high level of intellectual functioning as well as those with brain damage may be affected with the disorder. × Definition Gerstmann's syndrome is a cognitive impairment that results ...

  20. Usher Syndrome (United States)

    ... with age. Decline in hearing and vision varies. Children with type 3 Usher syndrome often develop hearing loss by adolescence, requiring hearing aids by mid-to-late adulthood. Night blindness also usually begins during adolescence. Blind spots appear ...

  1. Piriformis Syndrome (United States)

    ... may order additional tests. Computerized tomography (CT) and magnetic resonance imaging (MRI) scans cannot diagnose piriformis syndrome, ... you are sitting, driving or standing. Don’t lift by bending over. Lift an object by bending ...

  2. Turner Syndrome (United States)

    ... have an increased risk of an underactive thyroid (hypothyroidism) due to the autoimmune disorder Hashimoto's thyroiditis. They also have an increased risk of diabetes. Some women with Turner syndrome have gluten intolerance (celiac disease) or inflammatory bowel disease. Skeletal ...

  3. Reye Syndrome (United States)

    ... Legacy Society Make Gifts of Stock Donate Your Car Personal Fundraising Partnership & Support Share Your Story Spread the Word Give While You Shop Contact Us Donate Now What Is Reye’s Syndrome? ...

  4. Alagille Syndrome (United States)

    ... Legacy Society Make Gifts of Stock Donate Your Car Personal Fundraising Partnership & Support Share Your Story Spread the Word Give While You Shop Contact Us Donate Now Alagille Syndrome Back Alagille ...

  5. Cushing syndrome (United States)

    ... mellitus High blood pressure (hypertension) Increased cholesterol and triglycerides (hyperlipidemia) Women with Cushing syndrome may have: Excess ... Wisse, MD, Associate Professor of Medicine, Division of Metabolism, Endocrinology & Nutrition, University of Washington School of Medicine, ...

  6. What is Metabolic Syndrome? (United States)

    ... Research Home / Metabolic Syndrome Metabolic Syndrome What Is Metabolic syndrome is the name for a group of risk ... three metabolic risk factors to be diagnosed with metabolic syndrome. A large waistline. This also is called abdominal ...

  7. Obesity Hypoventilation Syndrome (United States)

    ... Home / Obesity Hypoventilation Syndrome Obesity Hypoventilation Syndrome Also known as Pickwickian Syndrome What ... your neck is larger than normal. Complications of Obesity Hypoventilation Syndrome When left untreated, OHS can cause ...

  8. Learning about WAGR Syndrome (United States)

    ... children who have WAGR syndrome may have normal intelligence. Other symptoms of WAGR syndrome may also include: ... mild. Some individuals with WAGR syndrome have normal intelligence. Children with WAGR syndrome should be referred for ...

  9. Toxic Shock Syndrome (United States)

    ... may also be caused by toxins produced by group A streptococcus (strep) bacteria. Toxic shock syndrome has been associated ... syndrome. The syndrome can also be caused by group A streptococcus (strep) bacteria. Risk factors Toxic shock syndrome can ...

  10. Milk-alkali syndrome (United States)

    Calcium-alkali syndrome; Cope syndrome; Burnett syndrome; Hypercalcemia; Calcium metabolism disorder ... Milk-alkali syndrome is almost always caused by taking too many calcium supplements, usually in the form of calcium ...

  11. What Causes Down Syndrome? (United States)

    ... it? Share Facebook Twitter Pinterest Email Print What causes Down syndrome? Down syndrome is caused by a random error ... The Down Syndrome Registry . Chromosomal Changes That Can Cause Down Syndrome Research shows that three types of chromosomal changes ...

  12. Pfeiffer syndrome

    Directory of Open Access Journals (Sweden)

    Fryns Jean-Pierre


    Full Text Available Abstract Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" Pfeiffer syndrome involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities; it is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Clinical overlap between the three types may occur. Pfeiffer syndrome affects about 1 in 100,000 individuals. The disorder can be caused by mutations in the fibroblast growth factor receptor genes FGFR-1 or FGFR-2. Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found. Molecular genetic testing is important to confirm the diagnosis. Management includes multiple-staged surgery of craniosynostosis. Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia.

  13. Compartment syndromes (United States)

    Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.


    The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

  14. Fraser syndrome

    DEFF Research Database (Denmark)

    Barisic, Ingeborg; Odak, Ljubica; Loane, Maria


    Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal, and urogenital malformations. We present a population-based epidemiological study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network...... of birth defect registries. Between January 1990 and December 2008, we identified 26 cases of Fraser syndrome in the monitored population of 12,886,464 births (minimal estimated prevalence of 0.20 per 100,000 or 1:495,633 births). Most cases (18/26; 69%) were registered in the western part of Europe, where...... was particularly high (42%). Most cases of Fraser syndrome (85%) are suspected prenatally, often due to the presence of the association of renal agenesis and cryptophthalmos. In the European population, a high proportion (82%) of pregnancies is terminated, thus reducing the live birth prevalence to a third...

  15. Dressler Syndrome

    Directory of Open Access Journals (Sweden)

    Erkan Ceylan


    Full Text Available Dressler Syndrome (DS is a febrile illness secondary to an inflammatory reaction involving the pleura and pericardium. It is more common in patients who have undergone surgery that involves opening the pericardium. However, DS has also been described following myocardial infarction and as an unusual complication after percutaneous procedures such as coronary stent implantation, after implantation of epicardial pacemaker leads and transvenous pacemaker leads, and following blunt trauma, stab wounds, and heart puncture. Pericardial effusions often accompany the syndrome and may develop into early or late postoperative cardiac tamponade and even recurrent cardiac tamponade. The syndrome is also characterized by pericardial or pleuritic pain, pleural effusions, pneumonitis, and abnormal ECG and radiography findings.


    Directory of Open Access Journals (Sweden)

    Tomislav Kostić


    Full Text Available In 1992, Brugada syndrom was introduced as a new clinical entity linking typical but variable ST segment changes in the right precordial leads to an increased vulnerability for lethal ventricular arrhythmias. The diagnosis of Brugada syndrome is based on clinical and electrocardiographic features. Recent studies illustrate the dynamic character of these ECG patterns. Whenever a large number of baseline ECGs was available during a follow-up, the diagnostic pattern could be documented only in approximately 25% of the tracings. Because the presence of the spontaneous coved type I ECG pattern is thought to be a useful predictor of future arrhythmic events in asymptomatic patients, these findings are of great clinical importance. ICD implantation is an option for the patients with Brugada syndrome and ventricular tachycardia or fibrillation. Extensive research is ongoing to find alternative pharmacological options for these patients, especially for patients in whom ICD implantation is contraindicated for various reasons.

  17. Eagle's Syndrome

    Directory of Open Access Journals (Sweden)

    Pinheiro, Thaís Gonçalves


    Full Text Available Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is difficult, and it is generally confounded by other manifestations of cervicopharyngeal pain. Objective: To describe a case of Eagle's syndrome. Case Report: A 53-year-old man reported lateral pain in his neck that had been present for 30 years. Computed tomography (CT of the neck showed elongation and ossification of the styloid processes of the temporal bone, which was compatible with Eagle's syndrome. Surgery was performed for bilateral resection of the stylohyoid ligament by using a transoral and endoscopic access route. The patient continued to present pain laterally in the neck, predominantly on his left side. CT was performed again, which showed elongation of the styloid processes. The patient then underwent lateral cervicotomy with resection of the stylohyoid process, which partially resolved his painful condition. Final Comments: Patients with Eagle's syndrome generally have a history of chronic pain. Appropriate knowledge of this disease is necessary for adequate treatment to be provided. The importance of diagnosing this uncommon and often unsuspected disease should be emphasized, given that correct clinical-surgical treatment is frequently delayed. The diagnosis of Eagle's syndrome is clinical and radiographic, and the definitive treatment in cases of difficult-to-control pain is surgical.

  18. Eagle syndrome

    International Nuclear Information System (INIS)

    Raina, Deepika; Gothi, Rajesh; Rajan, Sriram


    Eagle syndrome occurs due to elongation of the styloid process or calcification of the stylohyoid ligament, which then may produce a pain sensation due the pressure exerted on various structures in the head and neck. When suspected, imaging helps in identifying the abnormally elongated styloid process or the calcified ligament. In recent years, three-dimensional CT (3DCT) has proved to be valuable in these cases. We report the case of a 62-year-old man with this syndrome in whom imaging with 3DCT conclusively established the diagnosis

  19. Lemierre's syndrome.

    LENUS (Irish Health Repository)

    O'Dwyer, D N


    Lemierre\\'s syndrome is a rare disease that results in an oropharyngeal infection, which precipitates an internal jugular vein thrombosis and metastatic infection. Fusobacterium necrophorum is an anaerobic Gram-negative bacillus and has been identified as the causative agent. We describe the case of a young girl whose presentation and diagnosis were confounded by a history of valvular heart disease. Infection of heart valves can produce many of the signs and symptoms associated with Lemierre\\'s syndrome. We describe the diagnosis, investigation and optimal management of this rare disorder.

  20. Olmsted syndrome

    Directory of Open Access Journals (Sweden)

    Kumar Pramod


    Full Text Available Olmsted syndrome is a rare disorder characterized by the combination of periorificial, keratotic plaques and bilateral palmoplantar keratoderma. New associated features are being reported. Olmsted syndrome is particularly rare in a female patient, and we report such a case in a six year-old Indian girl, who presented with keratoderma of her soles since birth and on her palms since the age of two years along with perioral and perinasal hyperkeratosis. She had sparse, light brown, thin hair. Although the psychomotor development of the child was normal until 18 months of age, the keratoderma plaques had restricted the child′s mobility after that stage.

  1. Rapunzel syndrome

    International Nuclear Information System (INIS)

    Al-Wadan, Ali H.; Al-Saai, Azan S.; Abdoulgafour, Mohamed; Al-Absi, Mohamed


    An 18-year-old single female patient, presented with non specific gastrointestinal symptoms of anorexia, abdominal pain, and change in bowel habit. Clinically she was anemic, cachectic, and depressed. Abdominal examination revealed mobile epigastric mass. The scalp alopecia and endoscopy coupled by computed tomography scan, confirmed the diagnoses of trichobezoar, but it was not diagnosed as Rapunzel syndrome except after laparotomy, gastrotomy, and enterotomy. There are less than 16 cases of Rapunzel syndrome described worldwide, and this is the first case to be described in the middle east. (author)

  2. Fenton's syndrome

    International Nuclear Information System (INIS)

    Rimondi, E.; Albasini, V.


    The authors report two recent cases of Fenton's syndrome, a very rare carpal fracture-dislocation. After some anatomophysiopathological considerations and a review of the literature, a wider nosographic frame is proposed in which the entity of the dislocation of the head of capitate bone is not essential. According to both the literature and personal findings, the authors remark that this syndrome is always found in the presence of two morphological variants of the distal radioulnar joint. Finally, the authors stress the importance of a corect diagnosis of this lesion to avoid unnecessary attempts of reduction

  3. Waardenburg syndrome

    Directory of Open Access Journals (Sweden)

    Tagra Sunita


    Full Text Available Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively, hypoplastic blue iridis, white forelock, dystopia canthorum and broad nasal root. Other affected relatives of the family, with variable features of the syndrome, have been depicted in the pedigree.

  4. Morbihan syndrome

    Directory of Open Access Journals (Sweden)

    Stefano Veraldi


    Full Text Available We report a case of severe Morbihan syndrome (chronic erythematous edema of the upper portion of the face in a 60-year-old man. The syndrome was characterized clinically by erythematous edema involving the forehead, glabella, and both eyelids, because of which the patient was not able to open completely his eyes. Furthermore, erythema and telangiectasiae were visible on the nose and cheeks. Laboratory and instrumental examinations were within normal ranges or negative. Histopathological examination showed dermal edema, perivascular and periadnexal lympho-histiocytic infiltrate, and sebaceous gland hyperplasia. Oral isotretinoin was ineffective despite the relatively long duration of the therapy (26 weeks.

  5. Joubert syndrome

    International Nuclear Information System (INIS)

    Villanua, J.A.; Lopez, J.M.; Recondo, J.A.; Garcia, J.M.; Gaztanaga, R.


    Joubert syndrome is a rare malformation of the posterior fossa, mainly affecting the cerebellar vermis, which generally appears as a dysplastic lesion. Other structures of the cervico medullary junction may be involved, with accompanying brainstem hypoplasia according to neuroimaging studies. The diagnosis is usually reached during, childhood, based on a constellation of changes in the child's neurological development that are supported by the results of imaging studied. Respiratory problems are the most common signs in newborns,leading to the suspicion of the presence of this syndrome. (Author) 11 refs

  6. Lemierre's syndrome

    International Nuclear Information System (INIS)

    Gong, J.; Garcia, J.


    Postanginal sepsis, or Lemierre's syndrome, is rare but with life-threatening potential involving mainly infants and adolescents. The morbidity or mortality is caused mainly by lack of knowledge of the syndrome. The 18-year-old boy described here developed a jugular thrombosis 7 days after an angina. Fusobacterium necrophorum was isolated from the culture of the excised jugular vein. Secondary embolism involved the lungs, associated with an iliac osteomyelitis and sacroiliitis. Computed tomography was used for diagnosis and follow-up. (orig.)

  7. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ramachandran Sudarshan


    Full Text Available Turner syndrome is a genetic disorder that affects mostly females. Affected females have characteristic features such as short stature, premature ovarian failure, and several other features. Oral manifestations of this condition are not much discussed in the literature. But reported literature includes teeth, palate, periodontal and salivary changes. So the aim of this review is to illustrate the general manifestations, and especially the oral manifestations of Turner syndrome and evaluate their possible management. [Archives Medical Review Journal 2012; 21(4.000: 246-252

  8. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

    Vis, J.C.; Engelen, K. van; Timmermans, J.; Hamel, B.C.J.; Mulder, B.J.


    Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome.

  9. Gitelman syndrome.

    NARCIS (Netherlands)

    Knoers, N.V.A.M.; Levtchenko, E.N.


    Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence

  10. Dravet Syndrome (United States)

    ... but can be reduced by anticonvulsant drugs. A ketogenic diet, high in fats and low in carbohydrates, also may be beneficial. View Full Treatment Information Definition Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of ...

  11. Kartagener's Syndrome. (United States)

    Dhar, D K; Ganguly, K C; Alam, S; Hossain, A; Sarker, U K; Das, B K; Haque, M J


    Kartagener's Syndrome or Immotile Cilia Syndrome, a variant of Primary Ciliary Dyskinesia (PCD), is a rare autosomal recessive genetic disorder caused by defect in the tiny hair like structure, the cilia lining the respiratory tract (upper and lower), sinuses, eustachian tubes, middle ear and fallopian tubes. Here electron microscopy shows abnormal arrangement of ciliary tubules and patients with Kartagener's syndrome has an absence of dynein arms at the base of the cilia. The inability of cilia to move results in inadequate clearance of bacteria from the air passages, resulting in an increased risk of infection and causing bronchiectasis. Another result of ciliary immobility is infertility. A 60 years old lady was diagnosed as a case of Kartagener's syndrome. She had history of chronic cough for 20 years, irregular fever for 20 years and occasional shortness of breath for 5 years. Relevant investigations revealed dextrocardia, situs inversus, bilateral maxillary sinusitis with non pneumatised frontal sinus and bronchiectasis. She was treated with low concentration oxygen inhalation, antibiotic, bronchodilator, chest physiotherapy including postural drainage, vitamins and other supportive treatment.

  12. Barth Syndrome

    DEFF Research Database (Denmark)

    Saric, Ana; Andreau, Karine; Armand, Anne-Sophie


    , liver and skeletal muscle of patients have revealed mitochondrial malformations and dysfunctions. It is the purpose of this review to summarize recent results of studies on various animal or cell models of Barth syndrome, which have characterized biochemically the strong cellular defects associated...

  13. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    Debi Basanti


    Full Text Available Proteus syndrome is a variable and complex disorder characterized by multifocal overgrowths affecting any tissue or structure of the body. We present a girl aged 3 years and 8 months with an epidermal nevus, port-wine stain, macrodactyly with gigantism of the feet, lymphohemagiomas and multiple lipomas.

  14. Sjogren syndrome

    NARCIS (Netherlands)

    Brito-Zeron, Pilar; Baldini, Chiara; Bootsma, Hendrika; Bowman, Simon J.; Jonsson, Roland; Mariette, Xavier; Sivils, Kathy; Theander, Elke; Tzioufas, Athanasios; Ramos-Casals, Manuel


    Sjogren syndrome (SjS) is a systemic autoimmune disease that primarily affects the exocrine glands (mainly the salivary and lacrimal glands) and results in the severe dryness of mucosal surfaces, principally in the mouth and eyes. This disease predominantly affects middle-aged women, but can also be

  15. Goldenhar syndrome

    African Journals Online (AJOL)

    operational on the derivatives of the first and second bran- chial arches and clefts before the end of the organogenetic period (7'h or 8'h week of embryonic life)? ..... Marshman WE, Schalit G, Jones RB, Lee JP, Mathews TD and McCabe S: Congenital anomalies in patients with Duane retraction syndrome and their relatives.

  16. Rett Syndrome. (United States)

    Culbert, Linda A.

    This pamphlet reviews the historical process involved in initially recognizing Rett Syndrome as a specific disorder in girls. Its etiology is unknown, but studies have considered factors as hyperammonemia, a two-step mutation, a fragile X chromosome, metabolic disorder, environmental causation, dopamine deficiency, and an inactive X chromosome.…

  17. Nodding Syndrome

    Centers for Disease Control (CDC) Podcasts


    Dr. Scott Dowell, a CDC director, discusses the rare illness, nodding syndrome, in children in Africa.  Created: 12/19/2013 by National Center for Emerging and Zoonotic Infectious Diseases (NCEZID).   Date Released: 1/27/2014.

  18. Metabolic syndrome (United States)

    ... gov/pubmed/26718656 . Ruderman NB, Shulman GI. Metabolic syndrome. In: Jameson JL, De Groot LJ, de Kretser DM, et al, eds. Endocrinology: Adult and Pediatric . 7th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 43. Review ... NIH MedlinePlus Magazine Read more Health ...

  19. Stickler Syndrome (United States)

    ... tongue to drop back toward the throat. Blindness. Blindness can occur if retinal detachments aren't repaired promptly. Ear infections. Children with facial structure abnormalities associated with Stickler syndrome are more likely to develop ear infections than are children with normal facial ...

  20. Gorlin syndrome

    African Journals Online (AJOL)

    develop medulloblastomas and are treated with radiation, it is mandatory that they be monitored for the development of BCCs in the radiation field. Management of a patient or family with this syndrome should include genetic counselling and neurological evaluations to detect medulloblastoma until the age of 7, after which ...

  1. Kartagener's Syndrome

    African Journals Online (AJOL)


    presenting with recurrent upper and lower respiratory tract infections, sinusitis or bronchiectasis. Inability to diagnose this condition may subject the patient to unnecessary and repeated hospital admissions, investigations and treatment failure. KEY WORDS: Kartagener's syndrome, primary cilliary dyskinesia, situs inversus, ...

  2. Kounis syndrome

    African Journals Online (AJOL)

    Kounis syndrome is charac terised by a group of symp toms that manifest as unsta ble vasospastic or nonvaso spastic angina secondary to a hypersensitivity reaction.[1] It was first described by. Kounis and Zavras in 1991[2] as the concurrence of an allergic response with an anaphylactoid or anaphylactic reaction and ...

  3. Marfan Syndrome (For Teens) (United States)

    ... Staying Safe Videos for Educators Search English Español Marfan Syndrome KidsHealth / For Teens / Marfan Syndrome What's in this ... a genetic disorder called Marfan syndrome. What Is Marfan Syndrome? Marfan syndrome is named after Antoine Marfan, the ...

  4. The Source for Syndromes. (United States)

    Richard, Gail J.; Hoge, Debra Reichert

    Designed for practicing speech-language pathologists, this book discusses different syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Angelman syndrome; (2) Asperger syndrome; (3) Down syndrome; (4) fetal alcohol syndrome; (5) fetal…

  5. Apert syndrome

    Directory of Open Access Journals (Sweden)



    Full Text Available Apert syndrome (acrocephalosyndactyly is a rare developmental malformation characterized by craniosynostosis, mid-face hypoplasia, symmetrical syndactyly of hands and feet. The prodromal characteristics for the typical cranio-facial appearance are early craniosynostosis of the coronal suture, cranial base and agenesis of the sagittal suture. The purpose of this paper is to report a case of Apert syndrome with emphasis on craniofacial and oral features in an eighteen-month-old male child. The patient presented with several craniofacial deformities, including brachycephaly, midface hypoplasia, flat face, hypertelorism, ocular proptosis, downslanting palpebral fissures. Syndactylies with osseous fusion of the hands and feet were also observed. Intraoral findings included delayed eruption of teeth, high arched palate with pseudo cleft in the posterior one third.

  6. Hepatorenal Syndrome

    Directory of Open Access Journals (Sweden)

    Ebru Yilmaz


    Full Text Available Hepatorenal syndrome (HRS is functional renal failure that occurs with advanced liver failure. HRS is considered the most severe complication of cirrhosis. Type 1 HRS develops due to severe reduction of effective circulating volume results in hemodynamic dysfunction. Type 1 HRS is characterized by acute renal failure and rapid deterioration in the function of other organs. It can ocur spontaneously or in the setting of a precipitating event. Type 2 hepatorenal syndrome (HRS, which is characterized by slowly progressive renal failure and refractory ascites. Liver transplantation is the only definitive treatment for both type. The most suitable and ldquo;bridge treatments and rdquo; or treatment for patients ineligible for a liver transplant include terlipressin plus albumin. [J Contemp Med 2014; 4(2.000: 106-113

  7. Paraneoplastic syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Weller, R.E.


    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms, or syndromes which can mimic other disease conditions encountered in veterinary medicine. Recognition of PNS is valuable for several reasons: the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor; they may allow assessment of premalignant states; they may aid in the search metastases; they may help quantify and monitor response to therapy; and, they may provide insight into the study of malignant transformation and oncogene expression. This review will concentrate on the pathophysiology, diagnosis, and treatment of some of the common PNS encountered in veterinary medicine.

  8. Pearson syndrome. (United States)

    Farruggia, Piero; Di Marco, Floriana; Dufour, Carlo


    Pearson syndrome (PS) is a sporadic and very rare syndrome classically associated with single large-scale deletions of mitochondrial DNA and characterized by refractory sideroblastic anemia during infancy. Areas covered: This review presents an analysis and interpretation of the published data that forms the basis for our understanding of PS. PubMed, Google Scholarand Thompson ISI Web of Knowledge were searched for relevant data. Expert commentary: PS is a very rare mitochodrial disease that involves different organs and systems. Clinical phenotype is extremely variable and may change over the course of disease itself with the possibility both of worsenings and improvements. Outcome is invariably lethal and at the moment no cure is available. Accurate supportive treatment and follow up program in centres with experience in mitochondrial diseases and marrow failure may positively influence quality and duration of life.

  9. Otodental syndrome

    Directory of Open Access Journals (Sweden)

    Bloch-Zupan Agnès


    Full Text Available Abstract The otodental syndrome also named otodental dysplasia, is characterised by a striking dental phenotype known as globodontia, associated with sensorineural high frequency hearing loss and eye coloboma. Globodontia occurs in both primary and permanent dentition, affecting canine and molar teeth (i.e. enlarged bulbous malformed posterior teeth with almost no discernable cusps or grooves. The condition appears to be inherited in an autosomal dominant mode, although sporadic cases have been reported. It is a rare disease, a few families have been described in the literature. In the British family, the locus for oculo-oto-dental syndrome was mapped to 20q13.1 within a 12-cM critical chromosomal region. Dental management is complex, interdisciplinary and will include regular follow up, scheduled teeth extraction and orthodontic treatment. Hearing checks and, if necessary, hearing aids are mandatory, as well as eye examination and ad hoc treatment if necessary.

  10. Antiphospholipid syndrome. (United States)

    Cervera, Ricard


    The antiphospholipid syndrome (APS) is defined by the development of venous and/or arterial thromboses, often multiple, and pregnancy morbidity (mainly, recurrent fetal losses), in the presence of antiphospholipid antibodies (aPL). Some estimates indicate that the incidence of the APS is around 5 new cases per 100,000 persons per year and the prevalence around 40-50 cases per 100,000 persons. The aPL are positive in approximately 13% of patients with stroke, 11% with myocardial infarction, 9.5% of patients with deep vein thrombosis and 6% of patients with pregnancy morbidity. Currently, there is consensus in treating APS patients with thrombosis with long-term oral anticoagulation and to prevent obstetric manifestations with the use of aspirin and heparin. This review summarizes the main knowledge on the clinical and therapeutic aspects of this syndrome. © 2017 Elsevier Ltd. All rights reserved.

  11. Dravet syndrome

    Directory of Open Access Journals (Sweden)

    Incorpora Gemma


    Full Text Available Abstract "Dravet syndrome" (DS previously named severe myoclonic epilepsy of infancy (SMEI, or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy. DS is characterized by febrile and afebrile seizures beginning in the 1st year of life followed by different types of seizures (either focal or generalized, which are typically resistant to antiepileptic drugs. A developmental delay from the 2nd to 3rd year of life becomes evident, together with motor disturbances and personality disorders. Beside the classic syndrome, there are milder cases which have been called severe myoclonic epilepsy borderline (SMEB. DS is caused by a mutation in the neuronal sodium channel gene, SCN1A , that is also mutated in generalized epilepsy with FS+ (GEFS+.

  12. [Fibromyalgia syndrome]. (United States)

    Naranjo Hernández, A; Rodríguez Lozano, C; Ojeda Bruno, S


    The Fibromialgia Syndrome (FS) is a common clinical entity which may produce symtoms and signs related to multiple fields of Medicine. Typical clinical characteristics of FS include extensive pain, presence of sensitive points during exploration, morning stiffness, asthenia and non-refresing sleep. Frequently, associated rheumatologic diseases are observed, as rheumatoid arthritis, osteoarthrosis and vertebral disorders. In FS, complementary tests are usually normal. The most widely accepted hypothesis suggests that this is a disorder affecting modulation of pain sensitivity.

  13. Griscelli syndrome

    Directory of Open Access Journals (Sweden)

    Kumar T


    Full Text Available Partial albinism with immunodeficiency is a rare and fatal immunologic disorder characterized by pigmentary dilution and variable cellular immunodeficiency. It was initially described in 1978. Primary abnormalities included silvery grayish sheen to the hair, large pigment agglomerations in hair shafts and an abundance of mature melanosomes in melanocytes, with reduced pigmentation of adjacent keratinocytes. We describe a child with Griscelli syndrome who presented with hepatitis, pancytopenia and silvery hair. The diagnosis was confirmed by microscopic skin and hair examination.

  14. Asperger Syndrome


    Friedlander, Robin


    Abstract Asperger syndrome (AS) is a chronic neurodevelopmental disorder of social interaction, communication, and a restricted range of behaviors or interests. Although not generally associated with intellectual disability, the severe social disability and, in many cases, associated mental health and other medical problems, result in disability throughout life. The diagnosis is often delayed, sometimes into adulthood, which is unfortunate because there are now a range...

  15. Van gen naar ziekte; basaalcelnaevussyndroom

    NARCIS (Netherlands)

    de Meij, T. G. J.; Baars, M. J. H.; Gille, J. J. P.; Hack, W. W. M.; Haasnoot, K.; van Hagen, J. M.


    Nevoid basal cell carcinoma syndrome (NBCCS, basal cell naevus syndrome, Gorlin syndrome) is an autosomal dominant disorder, caused by mutations in the PTCH gene mapped to chromosome 9q22.3. It is characterised by multiple basal cell carcinomas, keratocysts of the jaws, palmar and plantar pits,

  16. What Is Marfan Syndrome? (United States)

    ... Outreach Initiative Breadcrumb Home Health Topics English Español Marfan Syndrome Basics In-Depth Download Download EPUB Download PDF What is it? Points To Remember About Marfan Syndrome Marfan syndrome affects connective tissue, which is the “ ...

  17. Turner Syndrome: Other FAQs (United States)

    ... celiac disease. 5 Is Turner syndrome considered a disability? Turner syndrome is not considered a disability, although ... girls with Turner syndrome have difficulty with arithmetic, visual memory, and visio-spatial skills (such as determining ...

  18. Basal cell nevus syndrome (United States)

    ... nevus syndrome Basal cell nevus syndrome - face References Evans DG, Farndon PA. Nevoid basal cell carcinoma syndrome. ... A.D.A.M. follows rigorous standards of quality and accountability. A.D.A.M. is among ...

  19. What Causes Rett Syndrome? (United States)

    ... it? Share Facebook Twitter Pinterest Email Print What causes Rett syndrome? Most cases of Rett syndrome are ... in the MECP2 gene represent the most prevalent causes of Rett syndrome. The development and severity of ...

  20. Toxic shock syndrome (United States)

    Staphylococcal toxic shock syndrome; Toxic shock-like syndrome; TSLS ... Toxic shock syndrome is caused by a toxin produced by some types of staphylococcus bacteria. A similar problem, called toxic shock- ...

  1. Neonatal respiratory distress syndrome (United States)

    Hyaline membrane disease (HMD); Infant respiratory distress syndrome; Respiratory distress syndrome in infants; RDS - infants ... after that. Some infants with severe respiratory distress syndrome will die. This most often occurs between days ...

  2. Genetics Home Reference: antiphospholipid syndrome (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Antiphospholipid syndrome Antiphospholipid syndrome Printable PDF Open All Close All Enable ... area? Other Names for This Condition anti-phospholipid syndrome antiphospholipid antibody syndrome Hughes syndrome Related Information How are ...

  3. Inherited ichthyosis: Syndromic forms. (United States)

    Yoneda, Kozo


    Among diseases that cause ichthyosis as one of the symptoms, there are some diseases that induce abnormalities in organs other than the skin. Of these, diseases with characteristic signs are regarded as syndromes. Although these syndromes are very rare, Netherton syndrome, Sjögren-Larsson syndrome, Conradi-Hünermann-Happle syndrome, Dorfman-Chanarin syndrome, ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome, and Refsum syndrome have been described in texts as representative ones. It is important to know the molecular genetics and pathomechanisms in order to establish an effective therapy and beneficial genetic counseling including a prenatal diagnosis. © 2016 Japanese Dermatological Association.

  4. Cockayne syndrome

    DEFF Research Database (Denmark)

    Karikkineth, Ajoy C; Scheibye-Knudsen, Morten; Fivenson, Elayne


    Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties......, leading to death by 12 years of age on average. It is an autosomal recessive disorder, with a prevalence of approximately 2.5 per million. There are several phenotypes (1-3) and two complementation groups (CSA and CSB), and CS overlaps with xeroderma pigmentosum (XP). It has been considered a progeria...

  5. [Dependency syndrome]. (United States)

    Vuorisalo, Sailaritta


    The most common causes of lower limb edema include cardiac insufficiency, venous insufficiency, insufficiency of lymph flow, and side effects of drugs. It can also be due to dependency syndrome, in which the edema and skin changes can only be explained by a passive calf muscle pump and the resulting venous hypertension. Underlying the drop foot is always immobilization for one reason or other. The patient must be given an explanation about the situation, activated to move if possible, and in any case guided to the use of support stockings and postural therapy.

  6. Eagle Syndrome

    Directory of Open Access Journals (Sweden)

    Beytholahi JM


    Full Text Available Eagle's syndrome is characterized by an elongated styloid process and (or calcification of"nstylohyoid ligament besides clinical symptoms. The symptoms are those related to pain when"nswallowing or rotating the neck, headacke, earache, dizziness, intermittent glossitis, sensation of"nforeign body in pharynx and transient syncope. The case which is presented can be considered a very"nrare form of the disease in which complete calcification of the ligament and it's thickening has"noccured. Also there is little relationship between the severity of calcification and severity of symptoms."nA careful and thorough evaluation of each panoramic radiography is emphasized.

  7. Jacobsen syndrome

    Directory of Open Access Journals (Sweden)

    Grossfeld Paul


    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

  8. HELLP syndrome

    Directory of Open Access Journals (Sweden)

    Dilek Acar


    Suggested treatment modality consists, stabilization of blood pressure and magnesium sulfate infusion. Then evaluation of fetal status and planning delivery method and time if maternal status remains unstable. If prognosis seems favorable without urgent delivery and fetus can benefit from it, a course of betamethasone can be given to fetuses between 24 and 34 weeks of gestational age. The only and definite treatment of HELLP syndrome is delivering the baby. Suggested benefits of steroid therapy and other experimental treatments are still to be proven effective by large randomized controlled trials. [Archives Medical Review Journal 2014; 23(4.000: 735-760

  9. Olmsted Syndrome

    Directory of Open Access Journals (Sweden)

    Sirka C


    Full Text Available A 20-year-old Sikh man had palmoplantar keratoderma, flexion deformity of digits, universal alopecia, keratotic plaques at the angles of mouth, gluteal cleft, knees and dorsal aspects of the metacarpophalangeal joints of the hand; features of Olmsted syndrome. He had normal nails, teeth, oral mucosa and normal joint movements. Treatment with acitretin, 25mg/day for three and a half months, followed by 25mg once daily alternating with 50mg once daily for 3 months resulted in significant improvement.

  10. KBG syndrome

    Directory of Open Access Journals (Sweden)

    Brancati Francesco


    Full Text Available Abstract KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral anomalies and developmental delay. To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG anomalies (with or without seizures and abnormal hair implantation. Cutaneous syndactyly, webbed short neck, cryptorchidism, hearing loss, palatal defects, strabismus and congenital heart defects are less common findings. Autosomal dominant transmission has been observed in some families, and it is predominantly the mother, often showing a milder clinical picture, that transmits the disease. The diagnosis is currently based solely on clinical findings as the aetiology is unknown. The final diagnosis is generally achieved after the eruption of upper permanent central incisors at 7–8 years of age when the management of possible congenital anomalies should have been already planned. A full developmental assessment should be done at diagnosis and, if delays are noted, an infant stimulation program should be initiated. Subsequent management and follow-up should include an EEG, complete orthodontic evaluation, skeletal investigation with particular regard to spine curvatures and limb asymmetry, hearing testing and ophthalmologic assessment.

  11. Cardiorenal syndrome

    Directory of Open Access Journals (Sweden)

    Sabry Omar


    Full Text Available Cardiovascular disease is the leading cause of death in patients with chronic kidney disease.  Heart failure may lead to acute kidney injury and vice versa. Chronic kidney disease may affect the clinical outcomes in patients with cardiovascular disorders. Renal impairment with any degree of albuminuria has been increasingly recognized as an independent risk factor for cardiovascular events and heart failure hospitalizations, while chronic heart failure may cause chronic kidney disease. The bidirectional nature of these disorders contributes to the complexity and the composite definitions of cardiorenal syndromes. However, the most important clinical trials in heart failure tend to exclude patients with significant renal dysfunction. The mechanisms whereby renal insufficiency worsens the outcome in heart failure are not known, and several pathways could contribute to the ‘‘vicious heart/kidney circle.’’ Traditionally, renal impairment has been attributed to the renal hypoperfusion due to reduced cardiac output and decreased systemic pressure. The hypovolemia leads to sympathetic activity, increased renin-angiotensin aldosterone pathway, and arginine-vasopressin release. These mechanisms cause fluid and sodium retention, peripheral vasoconstriction, and volume overload. Therapy to improve renal dysfunction, reduce neurohormonal activation and ameliorate renal blood flow could lead to a reduction in mortality and hospitalization in patients with cardiorenal syndrome.

  12. Sotos syndrome

    Directory of Open Access Journals (Sweden)

    Cormier-Daire Valérie


    Full Text Available Abstract Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC, advanced bone age, neonatal complications including hypotonia and feeding difficulties, and facial gestalt. Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anomalies, seizures and brisk deep tendon reflexes. Variable delays in cognitive and motor development are also observed. The syndrome may also be associated with an increased risk of tumors. Mutations and deletions of the NSD1 gene (located at chromosome 5q35 and coding for a histone methyltransferase implicated in transcriptional regulation are responsible for more than 75% of cases. FISH analysis, MLPA or multiplex quantitative PCR allow the detection of total/partial NSD1 deletions, and direct sequencing allows detection of NSD1 mutations. The large majority of NSD1 abnormalities occur de novo and there are very few familial cases. Although most cases are sporadic, several reports of autosomal dominant inheritance have been described. Germline mosaicism has never been reported and the recurrence risk for normal parents is very low (

  13. Marfan Syndrome (For Parents) (United States)

    ... Staying Safe Videos for Educators Search English Español Marfan Syndrome KidsHealth / For Parents / Marfan Syndrome Print en español Síndrome de Marfan What Is Marfan Syndrome? Marfan syndrome is a genetic disorder of the ...

  14. What Is Usher Syndrome? (United States)

    ... Usher syndrome. However, the RP associated with Usher syndrome shares most of its characteristics with other forms of RP. Researchers expect that advances in understanding and treating other forms of RP will directly benefit people with Usher syndrome and vice versa. What is Usher Syndrome? Risk ...

  15. Burnout Syndrome of Teachers


    Semrádová, Michaela


    The bachelor's thesis covers burnout syndrome of teachers. Defines burnout syndrome, describes its causes and symptoms. Describes teaching as helping profession and focousing on stressful situations at school. In the last chapter described different prevention strategies burnout syndrome. Key words: burnout syndrome, teaching, teacher, helping professions, beginning teacher, stress

  16. Superior Mesenteric Artery Syndrome or Wilkie Syndrome

    International Nuclear Information System (INIS)

    Castano Llano, Rodrigo; Chams Anturi, Abraham; Arango Vargas, Paula


    We described three cases of superior mesenteric artery (SMA) syndrome, also known as Wilkie's syndrome, chronic duodenal ileus, or cast syndrome. This syndrome occurs when the third portion of the duodenum is compressed between the SMA and the aorta. The major risk factors for development of SMA syndrome are rapid weight loss and surgical correction of spinal deformities. The clinical presentation of SMA syndrome is variable and nonspecific, including nausea, vomiting, abdominal pain, and weight loss. The diagnosis is based on endoscopic, radiographic and tomographic findings of duodenal compression by the SMA. The treatment of SMA syndrome is aimed at the precipitating factor, which usually is related to weight loss. Therefore, conservative therapy with nutritional supplementation is the initial approach, and surgery is reserved for those who do not respond to nutritional therapy.

  17. [Syndrome X vs metabolic syndrome]. (United States)

    Morales Villegas, Enrique


    Himsworth in 1939 postulated that Diabetes Mellitus type 2 (DM2) was not only an insulin deficiency state but also a cellular insulin insensitivity disease. Thirty years later, DeFronzo and Reaven demonstrated that insulin resistance (IR) preceded and predisposed for DM2 and atherosclerotic-cardiovascular-disease (ACVD). Reaven was the first to point out the relationship between IR and with hyperglycemia, dyslipidosis, and hypertension as mediators for ACVD, creating the concept of Syndrome X (SX) in 1988. WHO and, thereafter, other medical societies and medical groups, mainly ATP-III, in 2002, based on the difficulty of diagnosing IR in a simple, reliable, and inexpensive way, proposed and published the Metabolic Syndrome (MS) concept, as a group of five variables, i.e., obesity, hyperglycemia, hypertriglyceridemia, low HDL, and hypertension, as an easy clinical approximation to suspect and treat an increased cardiometabolic risk. Nowadays, there are deep and extensive controversies on this issue; however, these controversies do not really exist since all discordant points of view are rather quantitative and not qualitative in nature. This article is aimed at differentiating and harmonizing the complementary concepts of SX and MS, at analyzing why MS is a good "clinical window" to look for IR and its underlying manifestations, and finally to accept that the MS concept complements, but does not substitute or antagonize, traditional scales used to asses cardiovascular risk, such as the Framingham scale.

  18. Syndromes with supernumerary teeth. (United States)

    Lubinsky, Mark; Kantaputra, Piranit Nik


    While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth. Since, the cause of supernumerary teeth shows considerable heterogeneity, certain findings are less likely to be coincidental, such as five or more supernumerary teeth in a single patient, or locations outside of the premaxilla. We found only eight genetic syndromes with strong evidence for an association: cleidocranial dysplasia; familial adenomatous polyposis; trichorhinophalangeal syndrome, type I; Rubinstein-Taybi syndrome; Nance-Horan syndrome; Opitz BBB/G syndrome; oculofaciocardiodental syndrome; and autosomal dominant Robinow syndrome. There is also suggestive evidence of an association with two uncommon disorders, Kreiborg-Pakistani syndrome (craniosynostosis and dental anomalies), and insulin-resistant diabetes mellitus with acanthosisnigricans. An association of a Mendelian disorder with a low frequency manifestation of supernumerary teeth is difficult to exclude without large numbers, but several commonly cited syndromes lacked evidence for clear association, including Hallermann-Streiff syndrome, Fabry disease, Ehlers-Danlos syndrome, Apert and Crouzon syndromes, Zimmermann-Laband syndrome, and Ellis-van Creveld syndrome. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.


    Directory of Open Access Journals (Sweden)

    Matjaž Hafner


    Full Text Available Background. Hepatorenal syndrome (HRS is acommon complication of advanced hepatic disease characterizedby marked abnormalities in arterial circulation and byrenal failure. An extreme arteriolar vasodilatation located inthe splanchnic circulation results in a reduction of total systemicvascular resistence and arterial hypotension. Vasoconstrictionoccurs in the renal circulation as in all other extrasplanchnicvascular territories. In the kidney, marked renalvasoconstriction results in a low glomerular filtration rate.Conclusions. The diagnosis of HRS is currently based on exclusionof other causes of renal failure. Prognosis of patientswith HRS is very poor. Liver transplantation is the best therapeuticoption, but it is seldom applicable due to the short survivalexpectancy of most patients with HRS, particularly thosewith the rapidly progressive type of HRS. New therapies developedduring the last few years, such as the use of systemicvasoconstrictors or transjugular intrahepatic portosystemicshunts (TIPS appear promising. Such treatments are of interestnot only as a bridge to liver transplantation but also as atherapy for patients who are not candidates for transplantation.

  20. Noonan syndrome

    Directory of Open Access Journals (Sweden)

    van der Burgt Ineke


    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.

  1. Sotos syndrome. (United States)

    Baujat, Geneviève; Cormier-Daire, Valérie


    Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC), advanced bone age, neonatal complications including hypotonia and feeding difficulties, and facial gestalt. Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anomalies, seizures and brisk deep tendon reflexes. Variable delays in cognitive and motor development are also observed. The syndrome may also be associated with an increased risk of tumors. Mutations and deletions of the NSD1 gene (located at chromosome 5q35 and coding for a histone methyltransferase implicated in transcriptional regulation) are responsible for more than 75% of cases. FISH analysis, MLPA or multiplex quantitative PCR allow the detection of total/partial NSD1 deletions, and direct sequencing allows detection of NSD1 mutations. The large majority of NSD1 abnormalities occur de novo and there are very few familial cases. Although most cases are sporadic, several reports of autosomal dominant inheritance have been described. Germline mosaicism has never been reported and the recurrence risk for normal parents is very low (therapies are mostly symptomatic, including phototherapy in case of jaundice, treatment of the feeding difficulties and gastroesophageal reflux, and detection and treatment of hypoglycemia. General pediatric follow-up is important during the first years of life to allow detection and management of clinical complications such as scoliosis and febrile seizures. An adequate psychological and educational program with speech therapy and motor stimulation plays an important role in the global development of the

  2. Raynaud syndrome. (United States)

    Valdovinos, Sergio Toledo; Landry, Gregory J


    Raynaud syndrome (RS) was first described by the French physician Maurice Raynaud in 1862 with the characteristic tricolor change featuring pallor (ischemic phase), cyanosis (deoxygenation phase), and erythema (reperfusion phase) induced by cold or stress. Although the underlying pathophysiological mechanism is unclear, alterations in activity of the peripheral adrenoceptor have been implicated, specifically an enhanced smooth muscle contraction due to overexpression or hyperactivity of postsynaptic alpha 2 receptors. There are 2 ways that RS can appear clinically; isolated, formerly referred as Raynaud disease or now primary RS and in association with other conditions, usually connective tissue disorders (eg, Sjögren syndrome, systemic lupus erythematosus, scleroderma, and rheumatoid arthritis), frequently called Raynaud phenomenon or secondary RS. The estimated prevalence in the general population is 3%-5%, with a higher prevalence in women than in men. The diagnosis is mainly clinical, based on patient descriptions of skin changes. Upper extremity pulse-volume recording is used to rule out proximal arterial obstruction. The differentiation between a vasospastic vs and obstructive mechanism is made using digital pressures and photoplethysmography, where an obstructive mechanism has decreased pressures and blunted waveforms. Cold challenge testing, such as ice water immersion with temperature recovery, is highly sensitive but lack specificity. Serologic screening (antinuclear antibody and rheumatoid factor) is advocated to rule out associated connective tissue disorders. Most patients with RS can be managed conservatively, with avoidance of cold exposure or hand warming. For those in whom conservative management is inadequate, a number of pharmacologic and surgical therapies have been used. Owing to lack of complete understanding of the underlying pathophysiology, targeted therapy has not been possible; rather, therapy has been focused on the use of general

  3. Griscelli syndrome. (United States)

    Emanuel, Patrick O; Sternberg, Lauren J; Phelps, Robert G


    The dermatology staff was called to evaluate abnormal hair on a 22-month-old Hispanic girl whose parents were first cousins. Her medical history was significant for leptomeningitis with subsequent neurologic devastation, gastroesophageal reflux disease, and recurrent respiratory infections. Her hospital course was complicated by sepsis, liver dysfunction, pan-cytopenia, and disseminated intravascular coagulation. She had developed normally for the first year of life. At 13 months she became progressively lethargic and developed floppy muscle tone; a delay in mental and motor milestones was recognized. Results of a metabolic workup were negative. On examination she was noted to have generalized excessively fair skin when compared with her parents. She had silver-gray hair (Figure 1) and white eyebrows and body hair. Her maternal grandfather and granduncles had silver hair since childhood, but were without health problems. A maternal family member was said to have light skin. The presumed diagnosis before pathologic examination was Chediak-Higashi syndrome. Hematoxylin and eosin stain tests revealed prominent melanocytes in the basal layer of the epidermis. The melanocytes were large and distended with a large volume of melanin (Figure 2). The adjacent keratinocytes were completely devoid of melanin. Application of Masson-Fontana ammoniac silver stain highlighted prominent melanocytic melanin and a relative paucity of melanin in the adjacent keratinocytes (Figure 3). Microscopic examination of her hair revealed clumps of melanin of various sizes and shapes irregularly distributed throughout the hair shaft. Ultrastructural examination of the epidermis showed the melanocytes were distended by an accumulation of large stage IV mature melanosomes. Peripheral blood smear failed to show abnormal granules, even after repeated examination. Based on the clinical features and the pathologic findings, a diagnosis of Griscelli syndrome type 2 was made.

  4. Goldenhar Syndrome in Association with Duane Syndrome

    Directory of Open Access Journals (Sweden)

    U D Shrestha


    Full Text Available Goldenhar syndrome (GHS is also known as Oculo-Auriculo-Vertebral (OAV syndrome or Branchial arch syndrome. Duane retraction syndrome (DRS is a congenital disorder of ocular motility characterized by limited abduction, adduction or both. It is unilateral in 80% of cases. The important and interesting part of this eight months old child is presence of GHS with DRS. She has bilateral invol-vement, which is seen in only 5-8% of GHS, as compared to high incidence of unilateral involve-ment. This child also had refractive error of + 6.00/ - 1.5 * 180. At four year of age her vision with glass was 6/9. Children with GHS and DRS should have early eye examination done to treat the problem of refractive error. Keywords: Duane retraction syndrome; goldenhar syndrome, refractive error.

  5. Prenatal Tests for Down Syndrome (United States)

    PRENATAL TESTS FOR DOWN SYNDROME S HARE W ITH W OMEN PRENATAL TESTS FOR DOWN SYNDROME What Is Down Syndrome? ... suggests that you consult your health care provider. PRENATAL TESTS FOR DOWN SYNDROME 256 Volume 50, No. ...

  6. Hepatorenal Syndrome

    Directory of Open Access Journals (Sweden)

    Pınar Zeyneloğlu


    Full Text Available Renal failure is a common major complication in patients with advanced cirrhosis and generally indicates a poor prognosis when combined with liver failure. Hepatorenal syndrome (HRS is characterised by a combination of disturbances in circulatory and kidney function. Arterial pressure is decreased in the systemic circulation due to reduced total systemic vascular resistance. Kidney dysfunction is caused by reduction in renal blood flow. The diagnosis of HRS is based on exclusion of other disorders that cause acute kidney injury in cirrhosis as there are no specific tests. There are two types of HRS with different characteristics and prognostics. Liver transplantation is the treatment of choice for all patients without contraindication. The best approach to the pharmacologic management is the administration vasoconstrictor drugs based on the pathogenesis. Many vasoconstrictors including vasopressin analogues (terlipressin, ornipressin and vasopressin, somatostatin analogues (octreotide and alpha-adrenergic analogues (midodrine and norepinephrine have been studied. In most of the studies intravenous albumin therapy was coadministered with vasoconstrictor drugs and suggested that albumin should be considered as the component of pharmacologic intervention in patients with HRS. Renal replacement therapy in the form of hemodialysis or continuous venovenous hemofiltration has been used in the management of HRS patients awaiting transplantation or in those with acute potentially reversible conditions. The artificial hepatic support systems require further investigation. (Journal of the Turkish Society Intensive Care 2012; 10: 37-44

  7. Tics and Tourette Syndrome (United States)

    ... OTC Relief for Diarrhea Home Diseases and Conditions Tics and Tourette Syndrome Condition Tics and Tourette Syndrome Share Print Table of Contents1. ... little or no control over. These are called tics. Several different tics can happen at the same ...

  8. Stuttering and Tourette's Syndrome (United States)

    ... written specifically for parents. - Understanding Tourette Syndrome: A Handbook for Educators published by The Tourette Syndrome Foundation ... Earl Jones Actor James Earl Jones, a Broadway, television and movie star, is well-known for his ...

  9. The obstetric antiphospholipid syndrome

    NARCIS (Netherlands)

    Derksen, R. H. W. M.; de Grootb, Ph. G.

    The association of persistent presence of circulating antiphospholipid antibodies and thromboembolic events, (recurrent) pregnancy loss or both is termed antiphospholipid syndrome. Pregnancies in women with the syndrome should be regarded as at high-risk for complications. Optimal management

  10. Prune belly syndrome (United States)

    ... this page: // Prune belly syndrome To use the sharing features on this page, please enable JavaScript. Prune belly syndrome is a group of birth defects that ...

  11. Oculoauriculovertebral dysplasia (Goldenhar's syndrome). (United States)

    Nkrumah, F K


    A case of Goldenhar's Syndrome or Oculoauriculovertebral dysplasia in a Ghanaian infant is described. Significant were the additional findings of congenital esophageal atresia and arthrogryposis which have so far not been reported in association with the syndrome.

  12. Cri du chat syndrome (United States)

    ... this page: // Cri du chat syndrome To use the sharing features on this page, please enable JavaScript. Cri du chat syndrome is a group of symptoms that result ...

  13. Alport Syndrome Diagnosis (United States)

    ... Groups Hear From the Experts Follow us on Facebook! Alport Syndrome Foundation of USA 2 days ago ... BIRTHDAY! ... See More See Less Photo View on Facebook · Share View on Facebook The Alport syndrome Foundation ...

  14. Terlipressin for hepatorenal syndrome

    DEFF Research Database (Denmark)

    Gluud, Lise Lotte; Christensen, Kurt; Christensen, Erik


    Clinical trials suggest that terlipressin improves renal function in hepatorenal syndrome, but the evidence concerning mortality is equivocal.......Clinical trials suggest that terlipressin improves renal function in hepatorenal syndrome, but the evidence concerning mortality is equivocal....

  15. Hermansky-Pudlak syndrome

    Directory of Open Access Journals (Sweden)

    Preena A


    Full Text Available Hermansky-Pudlak syndrome is a rare autosomal recessive multisystem disease, with oculocutneous albinism, pulmonary fibrosis and bleeding diathesis. Here we report a case of Hermansky-Pudlak syndrome who presented with dyspnea, oculocutaneous albinism and nystagmus.

  16. Loeys-Dietz Syndrome (United States)

    ... The Marfan Foundation Marfan & Related Disorders What is Marfan Syndrome? What are Related Disorders? What are the Signs? ... Contact Us Donate Marfan & Related Disorders What is Marfan Syndrome? What are Related Disorders? What are the Signs? ...

  17. Marfan syndrome (image) (United States)

    Marfan syndrome is a disorder of connective tissue which causes skeletal defects typically recognized in a tall, lanky person. A person with Marfan syndrome may exhibit long limbs and spider-like fingers, ...

  18. What is Down Syndrome? (United States)

    ... Research Information Find a Study Resources and Publications Turner Syndrome Condition Information NICHD Research Information Find a ... years today. 4 Down syndrome is named after John Langdon Down, the first physician to describe the ...

  19. Hantavirus Pulmonary Syndrome (HPS) (United States)

    ... to Yosemite FAQ: Non-U.S. Visitors to Yosemite History of HPS Related Links Prevent Rodent Infestations Cleaning Up After Rodents Diseases From Rodent Hantavirus Pulmonary Syndrome (HPS) Recommend on Facebook Tweet Share Compartir Hantavirus Pulmonary Syndrome (HPS) is ...

  20. Chediak-Higashi syndrome (United States)

    ... this page: // Chediak-Higashi syndrome To use the sharing features on this page, please enable JavaScript. Chediak-Higashi syndrome is a rare disease of the immune ...

  1. Complex regional pain syndrome (United States)

    CRPS; RSDS; Causalgia - RSD; Shoulder-hand syndrome; Reflex sympathetic dystrophy syndrome; Sudeck atrophy; Pain - CRPS ... In: Cifu DX, ed. Braddom's Physical Medicine and Rehabilitation . 5th ed. Philadelphia, PA: Elsevier; 2016:chap 37.

  2. Klinefelter Syndrome (For Teens) (United States)

    ... sexual development in guys. It's a genetic condition (meaning a person is born with it). Klinefelter syndrome ... Klinefelter syndrome may also have problems with attention, speech development, and learning word skills like spelling, reading, ...

  3. 4H Syndrome (United States)

    ... syndrome? 4H syndrome is short for hypomyelination, hypogonadotropic hypogonadism and hypodontia. Hypomyelination means that there is lack ... myelin in the central nervous system. In hypogonadotropic hypogonadism, normal puberty development is absent because the central ...

  4. Moebius Syndrome Foundation (United States)

    ... conference. If you ... READ MORE » The Foundation is Hiring! Posted by Kim Cunningham The Moebius Syndrome Foundation ... in individuals nor does it endorse particular medical professionals, treatments, products or services. The Moebius Syndrome Foundation ...

  5. Prader-Willi Syndrome (United States)

    ... syndrome can be helpful in genetic counseling. Complications Obesity-related complications In addition to having constant hunger, ... result from Prader-Willi syndrome include: Effects of binge eating. Eating large amounts of food quickly, called binge ...

  6. Chinese restaurant syndrome (United States)

    Chinese restaurant syndrome is a set of symptoms that some people have after eating Chinese food. A food additive ... Chinese restaurant syndrome is most often diagnosed based on the symptoms. The health care provider may ask the following ...

  7. Rothmund-Thomson Syndrome

    DEFF Research Database (Denmark)

    Suter, Aude-Annick; Itin, Peter; Heinimann, Karl


    BACKGROUND: Poikiloderma is defined as a chronic skin condition presenting with a combination of punctate atrophy, areas of depigmentation, hyperpigmentation and telangiectasia. In a variety of hereditary syndromes such as Rothmund-Thomson syndrome (RTS), Clericuzio-type poikiloderma...

  8. Coffin Lowry Syndrome (United States)

    ... syndrome varies depending on the severity of symptoms. Early intervention may improve the outlook for patients. Life span ... syndrome varies depending on the severity of symptoms. Early intervention may improve the outlook for patients. Life span ...

  9. Obesity hypoventilation syndrome (OHS) (United States)

    ... this page: // Obesity hypoventilation syndrome (OHS) To use the sharing features on this page, please enable JavaScript. Obesity hypoventilation syndrome (OHS) is a condition in some ...

  10. Polycystic Ovary Syndrome FAQ (United States)

    f AQ FREQUENTLY ASKED QUESTIONS FAQ121 GYNECOLOGIC PROBLEMS Polycystic Ovary Syndrome (PCOS) • What are common signs and symptoms of polycystic ovary syndrome (PCOS)? • What causes PCOS? • What is insulin ...

  11. Polycystic ovary syndrome (United States)

    Polycystic ovaries; Polycystic ovary disease; Stein-Leventhal syndrome; Polyfollicular ovarian disease; PCOS ... RL, Barnes RB, Ehrmann DA. Hyperandrogenism, hirsuitism, and polycystic ovary syndrome. In: Jameson JL, De Groot LJ, de ...

  12. Sexuality and Down Syndrome (United States)

    ... NDSS Events Shop NDSS Contact NDSS > Resources > Sexuality Sexuality Sexuality & Down Syndrome Human sexuality encompasses an individual’s self- ... community standards for adult behavior. How Can Healthy Sexuality be Encouraged for Individuals with Down Syndrome? Creating ...

  13. Meconium aspiration syndrome (United States)

    ... this page: // Meconium aspiration syndrome To use the sharing features on this page, please enable JavaScript. Meconium aspiration syndrome (MAS) refers to breathing problems that a newborn ...

  14. Down Syndrome (For Kids) (United States)

    ... Changed What's Life Like for Kids With Down Syndrome? Print en español El síndrome de Down You have probably seen people who have Down syndrome. They have certain physical features, such as a ...

  15. Carpal Tunnel Syndrome (United States)

    ... a passing cramp? It could be carpal tunnel syndrome. The carpal tunnel is a narrow passageway of ... three times more likely to have carpal tunnel syndrome than men. Early diagnosis and treatment are important ...

  16. Guillain-Barre Syndrome (United States)

    Guillain-Barre syndrome is a rare disorder that causes your immune system to attack your peripheral nervous system (PNS). The PNS ... your brain. No one knows what causes the syndrome. Sometimes it is triggered by an infection, surgery, ...

  17. Polycystic Ovary Syndrome (United States)

    Polycystic ovary syndrome (PCOS) happens when a woman's ovaries or adrenal glands produce more male hormones than normal. PCOS causes cysts ( ... PCOS are at higher risk of diabetes, metabolic syndrome, heart disease, and high blood pressure. PCOS is ...

  18. Multiple Endocrine Neoplasia Syndromes (United States)

    ... switch to the Professional version Home Hormonal and Metabolic Disorders Multiple Endocrine Neoplasia Syndromes Multiple Endocrine Neoplasia Syndromes Types Type 1 disease Type 2A disease Type 2B disease Diagnosis Treatment Resources In This Article Drugs Mentioned In This ...

  19. Hyperimmunoglobulin E syndrome (United States)

    ... page: // Hyperimmunoglobulin E syndrome To use the sharing features on this page, please enable JavaScript. Hyperimmunoglobulin E syndrome is a rare, inherited disease. It causes ...

  20. [The Capgras syndrome]. (United States)

    Anikina, M A; Levin, O S


    The Capgras syndrome is one of delusional-like misidentification syndrome in which a person holds a delusion that one or several his/her friends or relatives have been replaced by an identical-looking impostor. As any other delusional disorder, the Capgras syndrome is characterized by stability despite the indisputable arguments against fault views. Initially, this syndrome was considered as a presentation of schizophrenia but later it has been described in brain organic disorders, primarily in elderly patients with dementia.

  1. Ogilvies syndrom efter sectio

    DEFF Research Database (Denmark)

    Schjoldager, B T; Sørensen, Jette Led; Svaerke, T


    Ogilvie's syndrome, acute pseudo-obstruction of the colon, can lead to perforation of the caecum and death. The syndrome is not well known and diagnosis can be difficult to make in time.......Ogilvie's syndrome, acute pseudo-obstruction of the colon, can lead to perforation of the caecum and death. The syndrome is not well known and diagnosis can be difficult to make in time....

  2. The wellness syndrome

    DEFF Research Database (Denmark)

    Mik-Meyer, Nanna


    Klumme. Wellness er blevet et syndrom, og dets symptomer er angst, selvbebrejdelser og skyldfølelse. Kommentar med udgangspunkt i: Carl Cederström & Andre Spicer, "The Wellness Syndrome" (Polity Books, 2015. 200 p.).......Klumme. Wellness er blevet et syndrom, og dets symptomer er angst, selvbebrejdelser og skyldfølelse. Kommentar med udgangspunkt i: Carl Cederström & Andre Spicer, "The Wellness Syndrome" (Polity Books, 2015. 200 p.)....

  3. Brugada syndrome

    Directory of Open Access Journals (Sweden)

    Priori Silvia G


    Full Text Available Abstract A novel clinical entity characterized by ST segment elevation in right precordial leads (V1 to V3, incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden cardiac death has been described by Brugada et al. in 1992. This disease is now frequently called "Brugada syndrome" (BrS. The prevalence of BrS in the general population is unknown. The suggested prevalence ranges from 5/1,000 (Caucasians to 14/1,000 (Japanese. Syncope, typically occurring at rest or during sleep (in individuals in their third or fourth decades of life is a common presentation of BrS. In some cases, tachycardia does not terminate spontaneously and it may degenerate into ventricular fibrillation and lead to sudden death. Both sporadic and familial cases have been reported and pedigree analysis suggests an autosomal dominant pattern of inheritance. In approximately 20% of the cases BrS is caused by mutations in the SCN5A gene on chromosome 3p21-23, encoding the cardiac sodium channel, a protein involved in the control of myocardial excitability. Since the use of the implantable cardioverter defibrillator (ICD is the only therapeutic option of proven efficacy for primary and secondary prophylaxis of cardiac arrest, the identification of high-risk subjects is one of the major goals in the clinical decision-making process. Quinidine may be regarded as an adjunctive therapy for patients at higher risk and may reduce the number of cases of ICD shock in patients with multiple recurrences.

  4. Sjogren's Syndrome Information Page (United States)

    ... Trials Organizations Publications Definition Sjögren's syndrome is an autoimmune disorder in which immune cells attack and destroy the ... syndrome than men. × Definition Sjögren's syndrome is an autoimmune disorder in which immune cells attack and destroy the ...

  5. Gorlin-goltz syndrome

    International Nuclear Information System (INIS)

    Ahmed, N.; Salman, M.; Mansoor, M.A.


    Multiple jaw cysts are a characteristic manifestation of basal cell nevus (Gorlin) syndrome. Gorlin-Goltz syndrome is characterized by symptoms primarily involving the skin, central nervous system, and skeletal system. In 90% of the patients, nevoid basal cell carcinoma syndrome is associated with recurring odontogenic keratocysts. This patient showed recurrent jaw and maxillary cysts, for which he was followed for 2 years. (author)

  6. Diagnostik af Dravet syndrom

    DEFF Research Database (Denmark)

    Hansen, Lars Kjaersgård; Rasmussen, Niels Henrik; Ousager, Lilian Bomme


    Dravet syndrome is an epileptic syndrome of infancy. We describe the features of two cases with genetically verified SCNA1 mutations. The diagnosis was established rather late in one case. The epilepsies were medically intractable and the symptoms characteristic of Dravet syndrome. The children...

  7. Exophthalmos in Cushing's syndrome. (United States)

    Kelly, W


    Exophthalmos was noted in 4 of the 12 patients reported by Harvey Cushing in 1932. Although exophthalmos has often been included in clinical descriptions, no previous study has reported actual measurements in patients with active and treated Cushing's syndrome, and in control patients. The aim of this study was to obtain these measurements. Thirty-one patients with active Cushing's syndrome (19 iatrogenic), 15 with treated Cushing's syndrome, 18 with Graves' ophthalmopathy, 59 control patients, and 3 patients with active Cushing's syndrome plus a family or personal history of thyroid disease. A consecutive series of patients with active and treated Cushing's syndrome were assessed. They were compared with patients with Graves' ophthalmopathy, and with control patients. Exophthalmos was assessed by the author using a Hertel meter. Urinary free cortisol was measured on patients with Cushing's syndrome, and serum thyroxine was estimated for them, and for the patients with Graves' ophthalmopathy. Exophthalmos exceeding 16 mm (> 2 SD above normal mean) was found in 45% of active Cushing's syndrome, 21% of iatrogenic Cushing's syndrome, 20% of treated Cushing's syndrome, 2% of normal controls, and 77% of patients with Graves' ophthalmopathy. No patient with Cushing's syndrome had significant symptoms due to exophthalmos. Patients with active Cushing's syndrome have statistically significant exophthalmos. This rarely causes symptoms, and diminishes when cortisol concentrations become normal. Cushing's syndrome and autoimmune thyroid disease may coexist in patients with exophthalmos.

  8. DIDMOAD (Wolfram Syndrome

    Directory of Open Access Journals (Sweden)

    Masoud Nashibi


    Full Text Available Wolfram syndrome was first described by physician D J Wolfram and Wagener in 1938. This autosomal recessive syndrome is also referred to as DIDMOAD syndrome which stands for Diabetes Insipidus, Insulin Dependent Diabetes Mellitus, Optic Atrophy and Deafness

  9. The acute radiation syndrome

    International Nuclear Information System (INIS)

    Souhami Filho, L.


    Symptoms and signs from medical aspects resulting from whole body exposure, or in the main part, to ionizing radiation are described. The dose-response relationship is studied and the exposure is divided in three parts: central nervous system syndrome, gastrointestinal syndrome and hematopoietic syndrome. Brief comments about the treatment are reported. (M.A.C.) [pt

  10. Post cardiac injury syndrome

    DEFF Research Database (Denmark)

    Nielsen, S L; Nielsen, F E


    The post-pericardiotomy syndrome is a symptom complex which is similar in many respects to the post-myocardial infarction syndrome and these are summarized under the diagnosis of the Post Cardiac Injury Syndrome (PCIS). This condition, which is observed most frequently after open heart surgery...

  11. Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome). (United States)

    Bresler, Scott C; Padwa, Bonnie L; Granter, Scott R


    Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. The disorder is caused by defects in hedgehog signaling which result in constitutive pathway activity and tumor cell proliferation. As sporadic basal cell carcinomas also commonly harbor hedgehog pathway aberrations, therapeutic agents targeting key signaling constituents have been developed and tested against advanced sporadically occurring tumors or syndromic disease, leading in 2013 to FDA approval of the first hedgehog pathway-targeted small molecule, vismodegib. The elucidation of the molecular pathogenesis of nevoid basal cell carcinoma syndrome has resulted in further understanding of the most common human malignancy.

  12. Barth syndrome

    Directory of Open Access Journals (Sweden)

    Clarke Sarah LN


    Full Text Available Abstract First described in 1983, Barth syndrome (BTHS is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM, skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA. Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM, hypertrophic cardiomyopathy (HCM, endocardial fibroelastosis (EFE, left ventricular non-compaction (LVNC, ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical, compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history. Historically regarded as a cardiac disease, BTHS is now considered a multi-system disorder which may be first seen by many different specialists or generalists. Phenotypic breadth and variability present a major challenge to the diagnostician: some children with BTHS have never been neutropenic, whereas others lack increased 3-MGCA and a minority has occult or absent CM. Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal death. Disabling mutations or deletions of the tafazzin (TAZ gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. A definitive biochemical test, based on detecting abnormal ratios of different cardiolipin species, was first described in 2008. Key areas of differential diagnosis include metabolic and viral cardiomyopathies, mitochondrial diseases, and many causes of neutropenia and

  13. [The Othello syndrome]. (United States)

    Alarcon, R


    A case is described and 7 others are discussed of the Othello Syndrome, characterized by cognitive, affective and conative manifestations plus non-specific psychosomatic accesory symptoms. The nuclear symptom is the delusional or delusion-like idea of jealousy. The syndrome is seen in both sexes, as part of a number of clinical entities (paranoia, psychoses, organic brain syndromes, neuroses and personality disorders). Premorbid personality and family history are always abnormal. Cases of cocaine abuse, involutional melancholia and borderline syndrome are remarkers. The management of this syndrome and of its social sequelae is emphasized.

  14. Gorlin-Goltz Syndrome

    Directory of Open Access Journals (Sweden)

    Padma Pandeshwar


    Full Text Available The Gorlin-Goltz syndrome (GGS (the nevoid basal cell carcinoma syndrome—NBCCS is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multidisciplinary problem, early diagnosis of which allows introduction of secondary prophylaxis and following an appropriate treatment to delay the progress of the syndrome. The following report emphasizes the need for awareness of the diagnostic criteria of this syndrome in cases with no typical skin lesions.

  15. Cardiorenal Syndrome in Acute Heart Failure Syndromes

    Directory of Open Access Journals (Sweden)

    Mohammad Sarraf


    Full Text Available Impaired cardiac function leads to activation of the neurohumoral axis, sodium and water retention, congestion and ultimately impaired kidney function. This sequence of events has been termed the Cardiorenal Syndrome. This is different from the increase in cardiovascular complications which occur with primary kidney disease, that is, the so-called Renocardiac Syndrome. The present review discusses the pathogenesis of the Cardiorenal Syndrome followed by the benefits and potential deleterious effects of pharmacological agents that have been used in this setting. The agents discussed are diuretics, aquaretics, natriuretic peptides, vasodilators, inotropes and adenosine α1 receptor antagonists. The potential role of ultrafiltration is also briefly discussed.

  16. [Menopause and metabolic syndrome]. (United States)

    Meirelles, Ricardo M R


    The incidence of cardiovascular disease increases considerably after the menopause. One reason for the increased cardiovascular risk seems to be determined by metabolic syndrome, in which all components (visceral obesity, dyslipidemia, hypertension, and glucose metabolism disorder) are associated with higher incidence of coronary artery disease. After menopause, metabolic syndrome is more prevalent than in premenopausal women, and may plays an important role in the occurrence of myocardial infarction and other atherosclerotic and cardiovascular morbidities. Obesity, an essential component of the metabolic syndrome, is also associated with increased incidence of breast, endometrial, bowel, esophagus, and kidney cancer. The treatment of metabolic syndrome is based on the change in lifestyle and, when necessary, the use of medication directed to its components. In the presence of symptoms of the climacteric syndrome, hormonal therapy, when indicated, will also contribute to the improvement of the metabolic syndrome.

  17. Gorlin-goltz syndrome

    Directory of Open Access Journals (Sweden)

    B V Shobha


    Full Text Available Gorlin-Goltz syndrome also known as nevoid basal cell carcinoma syndrome (NBCCS is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by keratocystic odontogenic tumors (KCOT in the jaw, multiple basal cell carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic examination in the first decade of life, as KCOTs are usually one of the first manifestations of the NBCCS syndrome. This article reports the case of a 12-year-old girl with Gorlin-Goltz syndrome, emphasizing its clinical and radiographic manifestation. This study highlights the importance of health professionals in the early diagnosis of this syndrome and a multidisciplinary approach to provide a better diagnosis and prognosis.

  18. Mobius syndrome: MRI features

    International Nuclear Information System (INIS)

    Markarian, Maria F.; Villarroel, Gonzalo M.; Nagel, Jorge R.


    Purpose: Mobius Syndrome or congenital facial diplegia is associated with paralysis of the lateral gaze movements. This syndrome may include other cranial nerve palsies and be associated to musculoskeletal anomalies. Our objective is to show the MRI findings in Mobius Syndrome. Material and methods: MRI study was performed in 3 patients with clinic diagnosis of Mobius Syndrome. RMI (1.5T); exams included axial FSE (T1 and T2), FLAIR, SE/EPI, GRE/20, sagittal FSE T2 , coronal T1, diffusion, angio MRI and Spectroscopy sequences. Results: The common features of this syndrome found in MRI were: depression or straightening of the floor of the fourth ventricle, brainstem anteroposterior diameter diminution, morphologic alteration of the pons and medulla oblongata and of the hypoglossal nuclei as well as severe micrognathia. Conclusion: The morphologic alterations of Mobius Syndrome can be clearly identified by MRI; this method has proved to be a useful diagnostic examination. (author)

  19. Metabolic syndrome and menopause


    Jouyandeh, Zahra; Nayebzadeh, Farnaz; Qorbani, Mostafa; Asadi, Mojgan


    Abstract Background The metabolic syndrome is defined as an assemblage of risk factors for cardiovascular diseases, and menopause is associated with an increase in metabolic syndrome prevalence. The aim of this study was to assess the prevalence of metabolic syndrome and its components among postmenopausal women in Tehran, Iran. Methods In this cross-sectional study in menopause clinic in Tehran, 118 postmenopausal women were investigated. We used the adult treatment panel 3 (ATP3) criteria t...

  20. Melkersson-rosenthal syndrome


    Sharma, Dev Raj; Resident, Sr.; Mohan, C.; Minnas, R. S.; Mohindroo, N. K.; Sharma, M. L.


    Melkersson - Rosenthal syndrome was described by Melkersson and Rosenthal separately in the year 1928 and 1931 respectively. It is supposed to be a rare syndrome of bilateral alternating recurrent facial paralysis alongwith fissured tongue and oedema of the lips, face and eyelids. A case of Melkersson - Rosenthal syndrome is reported with all the classic findings which is a rarity. In this case there was alternating facial paralysis to begin with followed by bilateral paralysis third time, al...

  1. Genetics Home Reference: Poland syndrome (United States)

    ... Email Facebook Twitter Home Health Conditions Poland syndrome Poland syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Poland syndrome is a disorder in which affected individuals ...

  2. Genetics Home Reference: DOORS syndrome (United States)

    ... This Page Campeau PM, Hennekam RC; DOORS syndrome collaborative group. DOORS syndrome: phenotype, genotype and comparison with ... M. DOOR syndrome: clinical report, literature review and discussion of natural history. Am J Med Genet A. ...

  3. Genetics Home Reference: Marfan syndrome (United States)

    ... Email Facebook Twitter Home Health Conditions Marfan syndrome Marfan syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Marfan syndrome is a disorder that affects the connective tissue ...

  4. Toxic Shock Syndrome (For Teens) (United States)

    ... Safe Videos for Educators Search English Español Toxic Shock Syndrome KidsHealth / For Teens / Toxic Shock Syndrome What's ... it, then take some precautions. What Is Toxic Shock Syndrome? If you're a girl who's had ...

  5. Genetics Home Reference: Waardenburg syndrome (United States)

    ... Email Facebook Twitter Home Health Conditions Waardenburg syndrome Waardenburg syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Waardenburg syndrome is a group of genetic conditions that can ...

  6. Genetics Home Reference: Wolfram syndrome (United States)

    ... Email Facebook Twitter Home Health Conditions Wolfram syndrome Wolfram syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Wolfram syndrome is a condition that affects many of the ...

  7. Irritable Bowel Syndrome (United States)

    ... Causes Diagnosis Treatment Eating, Diet, & Nutrition Clinical Trials Diverticular Disease Definition & Facts Symptoms & Causes Diagnosis Treatment Eating, Diet, & Nutrition Clinical Trials Dumping Syndrome ...

  8. [Neurobiology of Tourette Syndrome]. (United States)

    Ünal, Dilek; Akdemir, Devrim


    Tourette Syndrome (TS) is a neurodevelopmental disorder characterized by chronic motor and vocal tics. Although it is a common disorder in childhood, the etiology of Tourette Syndrome has not been fully elucidated yet. Studies, -conducted so far- have revealed differences in neurobiological structures of individuals who suffer from Tourette Syndrome. The objective of this review is to assess etiological and pathophysiological studies in the Tourette Syndrome literature. An electronical search was conducted in PubMed database using the keywords tic disorders, Tourette Syndrome, neurobiology, genetics, neuroimaging and animal models. Research and review studies published between 1985 and 2015, with a selection preference towards recent publications, were reviewed. According to the studies, genetic predisposition hypothesis is considered as a priority. However, a precise genetic disorder associated with Tourette Syndrome has not been found. The evidence from postmortem and neuroimaging studies in heterogenous patient groups and animal studies supports the pathological involvement of cortico-striato-thalamo-cortical (CSTC) circuits in Tourette Syndrome. Consequently, the most emphasized hypothesis in the pathophysiology is the dopaminergic dysfunction in these circuits. Furthermore, these findings of the animal, postmortem and neuroimaging studies have confirmed the neurodevelopmental hypothesis of Tourette Syndrome. In conclusion, more studies are needed to understand the etiology of the disorder. The data obtained from neurobiological studies of the disorder will not only shed light on the way of Tourette Syndrome, but also guide studies on its treatment options.

  9. Vertebral Artery Stump Syndrome. (United States)

    Suzuki, Masato; Dembo, Tomohisa; Hara, Wataru; Tajima, Takashi; Yamashita, Minako; Oji, Satoru; Nomura, Kyoichi


    Carotid stump syndrome is a well-documented embolic source for ischemic stroke. However, few cases have been reported of a similar condition - termed vertebral artery stump syndrome - which affects the posterior circulation after vertebral artery origin occlusion. We herein report a case of infarction of the right superior cerebellar artery and left posterior inferior cerebellar artery territories due to vertebral artery stump syndrome. In this interesting case, a turbulent flow at the distal side of the vertebral artery occlusion was captured on ultrasonography, and was identified as the probable mechanism of vertebral artery stump syndrome.

  10. Polyposis syndromes: pediatric implications. (United States)

    Hyer, W


    The diagnosis of a polyposis syndrome, such as juvenile polyposis, Peutz-Jeghers syndrome, and familial adenomatous polyposis, requires knowledge of the site, number, and histologic type of the polyps and an appreciation of relevant family history. Children and adolescents with polyposis syndromes are faced with not only the immediate complications of the polyps, such as intussusception or bleeding, but also the extraintestinal manifestations and the long-term risk for malignancy. This article reviews the diagnosis, clinical management, surveillance, and surgical options for children with polyposis syndromes and discusses genetics and appropriate screening programs.

  11. Capgras' syndrome with organic disorders. (United States)

    Collins, M. N.; Hawthorne, M. E.; Gribbin, N.; Jacobson, R.


    Capgras' syndrome, one form of the delusional misidentification syndromes, is described. Three patients with the syndrome are reported. The first had a right cerebral infarction, the second had nephrotic syndrome secondary to severe pre-eclampsia in the puerperium, and the third had uncontrolled diabetes mellitus with dementia. Evidence is reviewed regarding an organic aetiology for Capgras' syndrome. We conclude that, when the syndrome is present, a thorough search for organic disorder should be made. PMID:2084656

  12. Metabolic syndrome in acute coronary syndrome

    International Nuclear Information System (INIS)

    Bhalli, M.A.; Aamir, M.; Mustafa, G.


    Objective: To determine the frequency of metabolic syndrome in male patients presenting with acute coronary syndrome Study design: A Descriptive study Place and duration of study: Armed Forces Institute of Cardiology and National Institute of Heart Diseases, Rawalpindi, from October 2007 to September 2008 Patients and Methods: Male patients with acute coronary syndrome (ACS) were included. Patients having angioplasty (PCI), coronary artery bypass surgery in the past and other co-morbid diseases were excluded. All patients were assessed for the presence of five components of metabolic syndrome including hypertension, HDL-Cholesterol and triglycerides, glucose intolerance and abdominal obesity. Systolic, diastolic blood pressures, waist circumference (WC) and body mass index (BMI) were measured. ECG, cardiac enzymes, fasting glucose and lipid profile were also done. Results: A total of 135 male patients of ACS were studied with a mean age of 54.26 +- 11 years. Metabolic syndrome (MS) was present in 55 (40.7%) patients. MS with all five components was documented in 4 (7.27%) while MS with four and three components was seen in 23 (41.81%) and 28 (50.90%) patients respectively. Only 24 (43.63%) patients with MS had diabetes mellitus, remaining 31(56.36%) were non diabetic. Frequencies of diabetes, hypertension and family history of CAD were significantly higher (p<0.05) in patients with metabolic syndrome as compared to patients with normal metabolic status. Conclusion: Metabolic syndrome is fairly common and important risk factor in patients of IHD. Other risk factors like smoking, dyslipidemia, hypertension and diabetes were also frequently found. Public awareness to control the risk factors can reduce the prevalence of CAD in our country. (author)

  13. Unique Preservation of Neural Cells in Hutchinson- Gilford Progeria Syndrome Is Due to the Expression of the Neural-Specific miR-9 MicroRNA

    Directory of Open Access Journals (Sweden)

    Xavier Nissan


    Full Text Available One puzzling observation in patients affected with Hutchinson-Gilford progeria syndrome (HGPS, who overall exhibit systemic and dramatic premature aging, is the absence of any conspicuous cognitive impairment. Recent studies based on induced pluripotent stem cells derived from HGPS patient cells have revealed a lack of expression in neural derivatives of lamin A, a major isoform of LMNA that is initially produced as a precursor called prelamin A. In HGPS, defective maturation of a mutated prelamin A induces the accumulation of toxic progerin in patient cells. Here, we show that a microRNA, miR-9, negatively controls lamin A and progerin expression in neural cells. This may bear major functional correlates, as alleviation of nuclear blebbing is observed in nonneural cells after miR-9 overexpression. Our results support the hypothesis, recently proposed from analyses in mice, that protection of neural cells from progerin accumulation in HGPS is due to the physiologically restricted expression of miR-9 to that cell lineage.

  14. [Muir-Torre syndrome and Turcot syndrome]. (United States)

    Velter, C; Caussade, P; Fricker, J-P; Cribier, B

    Lynch syndrome (LS) is a syndrome that carries a genetic predisposition to certain cancers associating, either in a single individual or in a family, a visceral tumour, mainly colorectal, with a high risk of other synchronous or metachronous cancers. LS is linked with mutations in the genes coding for proteins in the DNA repair system. Phenotypic variants of SL exist, including Muir-Torre syndrome (MTS) and Turcot syndrome (TS), both of which predispose to colorectal cancer. They may be distinguished by the presence of benign or malignant sebaceous tumours in MTS, and tumours of the central nervous system in TS. A 59-year-old man, with a history of right colon cancer at the age of 36 years, consulted for a nose lesion shown by histopathological examination to be a sebaceous tumour. Immunohistochemistry revealed loss of expression of proteins MSH2 and MSH6, strongly suggesting a diagnosis of MTS. Eight years earlier, the man's son had developed a fatal glioblastoma; given the paternal phenotype of MTS, the hypothesis of TS in the son is probable. This case suggests that several variants of Lynch syndrome may be seen within the same family. It raises the issue of screening for cerebral tumours in patients with MTS and in their family members, even though such a recommendation does not exist; current recommendations in fact consist primarily of gastrointestinal and gynaecological monitoring. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  15. Wolfram syndrome 1 and Wolfram syndrome 2. (United States)

    Rigoli, Luciana; Di Bella, Chiara


    Wolfram syndrome 1 (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DI DM OA D syndrome) associated with other variable clinical manifestations. The causative gene for WS1 (WFS1) encoding wolframin maps to chromosome 4p16.1. Wolframin has an important function in maintaining the homeostasis of the endoplasmic reticulum (ER) in pancreatic β cells. Recently, another causative gene, CISD2, has been identified in patients with a type of Wolfram syndrome (WS2) resulting in early optic atrophy, diabetes mellitus, deafness, decreased lifespan, but not diabetes insipidus. The CISD2-encoded protein ERIS (endoplasmic reticulum intermembrane small protein) also localizes to ER, but does not interact directly with wolframin. ERIS maps to chromosome 4q22. Numerous studies have shown an interesting similarity between WFS1 and CISD2 genes. Experimental studies demonstrated that the Cisd2 knockout (Cisd2) mouse shows premature aging and typical symptoms of Wolfram syndrome. These researches provide interesting insight into the relation of neurodegenerative diseases, mitochondrial disorders, and autophagy and are useful for the pathophysiological understanding of both Wolfram syndrome and mitochondrial-mediated premature aging. The knowledge of WS1 and WS2 pathogenesis, and of the interactions between WFS1 and CISD2 genes, is useful for accurate diagnostic classification and for diagnosis of presymptomatic individuals.

  16. Middle East Respiratory Syndrome

    Centers for Disease Control (CDC) Podcasts


    This podcast discusses Middle East Respiratory Syndrome, or MERS, a viral respiratory illness caused by Middle East Respiratory Syndrome Coronavirus—MERS-CoV.  Created: 7/7/2014 by National Center for Immunization and Respiratory Diseases (NCIRD).   Date Released: 7/7/2014.

  17. Cardiomyopathy in Vici syndrome

    African Journals Online (AJOL)

    Solaf M. Elsayed


    Jan 12, 2018 ... The syndrome was first described in 1988, in two brothers with ACC, bilateral cataracts, ... syndrome with brain anomalies, cardiomyopathy, and severe intellectual disability. Case Reports in Genetics 2011, Volume 2011. [6] Finocchi A, Angelino G, Cantarutti N, Corbari M, Bevivino E, Cascioli S, et al.

  18. Tropical Diabetic Hand Syndrome

    African Journals Online (AJOL)

    [2,3] Tropical diabetic hand syndrome is a terminology used to describe a specific acute symptom complex found in diabetic patients in the tropics.[1-4] The syndrome comprises can rapidly progress to synergistic gangrene (Meleney's gangrene), affecting the entire limb and extending to the superficial fascia that can result in ...

  19. Chronic fatigue syndrome

    African Journals Online (AJOL)

    Objective. To acknowledge the dinical syndrome chronic fatigue syndrome (CFS) and outline the diagnostic criteria and reasonable management. Outcomes. Attempt at containment of treatmentcost and improvement of the quality of care of patients with. CFS. Evidence. Delphi-type commentary from 20 expert clinicians and ...

  20. The Othello syndrome. (United States)

    Famuyiwa, O O; Ekpo, M


    A case of the Othello syndrome is presented. In its classical form the syndrome is rare, but as with other allied paranoid states, its medicosocial implications are great. Rational management should include pharmacotherapy, conjoint family therapy after symptom remission, and long-term individual psychotherapy.

  1. Chronic fatigue syndrome

    African Journals Online (AJOL)

    Chronic fatigue syndrome. Committee for Science and Education, Medical. Association of South Africa. Objective. ... Synonyms. Major controversy surrounds the name of the syndrome. In medical circles the preferred term is chronic fatigue .... urine tests using dipsticks. The above investigations should only be pursued when.

  2. Adult onset Leigh syndrome

    Directory of Open Access Journals (Sweden)

    Pandit Lekha


    Full Text Available Leigh syndrome is a rare progressive mitochondrial disorder of oxidative metabolism. Though it has been reported in infancy and childhood, it is rarely described in adults. The authors describe a patient who had clinical and magnetic resonance imaging features diagnostic of Leigh syndrome, with supportive biochemical and muscle histochemistry evidence.

  3. Metabolic syndrome and menopause

    Directory of Open Access Journals (Sweden)

    Jouyandeh Zahra


    Full Text Available Abstract Background The metabolic syndrome is defined as an assemblage of risk factors for cardiovascular diseases, and menopause is associated with an increase in metabolic syndrome prevalence. The aim of this study was to assess the prevalence of metabolic syndrome and its components among postmenopausal women in Tehran, Iran. Methods In this cross-sectional study in menopause clinic in Tehran, 118 postmenopausal women were investigated. We used the adult treatment panel 3 (ATP3 criteria to classify subjects as having metabolic syndrome. Results Total prevalence of metabolic syndrome among our subjects was 30.1%. Waist circumference, HDL-cholesterol, fasting blood glucose, diastolic blood pressure ,Systolic blood pressure, and triglyceride were significantly higher among women with metabolic syndrome (P-value Conclusions Our study shows that postmenopausal status is associated with an increased risk of metabolic syndrome. Therefore, to prevent cardiovascular disease there is a need to evaluate metabolic syndrome and its components from the time of the menopause.

  4. Churg Strauss syndrome

    International Nuclear Information System (INIS)

    Lopez Rengifo, Diana Milena; Contreras Zuniga, Eduardo; Osio, Luis Fernando


    The Churg-Strauss syndrome, also called allergic granulomatosis and angiitis, is a multisystem disorder characterized by allergic rhinitis, asthma, and prominent peripheral blood eosinophilia. The most common organ involved is the lung, followed by the skin. The Churg-Strauss syndrome, however, can affect any organ system, including the cardiovascular, gastrointestinal, renal, and central nervous systems

  5. The stress ulcer syndrome

    NARCIS (Netherlands)

    H.A. van Essen


    textabstractThe stress ulcer syndrome is described in this thesis. This syndrome is seen in patients admitted to intensive care departments or being treated in field hospitals, in disaster areas, or battle fields. Acute mucosal lesions associated with burns (Curling's ulcers) and central nervous

  6. The scapulocostal syndrome

    African Journals Online (AJOL)


    Jun 15, 1991 ... The scapulocostal syndrome, a hitherto insufficiently under- stood condition, was clinically studied in 201 cases. The main findings were: (i) pain was the presenting symptom in all cases and was mainly cervicobrachial (90%); (ill the syndrome is a definable entity within the wide spectrum of fibromyalgia ...


    African Journals Online (AJOL)

    muscle destruction, muscle fibrosis, contractures and permanent disability and at worst case scenario of amputation (3,4). As reported by Frink et al (3) on their study on acute compartment syndrome it can occur even when there is no fracture. Also general surgeons have reported acute compartment syndrome.

  8. Sheehan's Syndrome (Postpartum Hypopituitarism) (United States)

    ... in developing countries. Treatment of Sheehan's syndrome involves lifelong hormone replacement therapy. Symptoms Signs and symptoms of Sheehan's syndrome typically appear slowly, after a period of months or even years. But sometimes problems appear right away, such as the inability to ...

  9. Acute heart failure syndrome

    African Journals Online (AJOL)

    Heart failure can be defined as a clinical syndrome in which a structural or functional cardiac abnormality impairs the capacity of the ventricle to fill or eject enough blood for the requirements of the body. Acute heart failure syndrome represents a complex, heterogeneous set of clinical conditions, all with the common.

  10. Ehlers-Danlos' syndrom

    DEFF Research Database (Denmark)

    Leganger, Julie; Søborg, Marie-Louise Kulas; Farholt, Stense


    Ehlers-Danlos syndrome Ehlers-Danlos syndrome (EDS) comprises a group of diseases characterized by connective tissue fragility. The clinical symptoms primarily involve the skin, joints, blood vessels and internal organs. Diagnosing EDS is complicated because of the clinical variability, imprecise...

  11. Korsakoff's syndrome is preventable

    NARCIS (Netherlands)

    Oudman, Erik; Wijnia, Jan W.


    Wernicke-Korsakoff syndrome (WKS) is a life-threatening neuropsychiatric disorder caused by thiamine (vitamin B1) deficiency. Wernicke-Korsakoff syndrome is associated with mammillary body edema and small vessel ischemia. Many patients who develop WKS have a history of serious alcoholism and

  12. Proteus syndrome in adulthood

    NARCIS (Netherlands)

    Muller, E; Lichtendahl, DHE; Hofer, SOP

    Proteus syndrome is a very rare congenital condition comprising malformations and overgrowth of multiple sorts of tissue. It was described for the first time in 1979 and was termed Proteus syndrome in 1983. The authors describe a 37-year-old patient who was diagnosed initially as having

  13. Managing Sjogren's Syndrome. (United States)

    Grossman, Sheila; Tagliavini, Lynda B


    There are approximately 4 million Americans diagnosed with Sjogren's Syndrome. This article discusses the epidemiology, pathophysiology, diagnostics, and implications for home care clinicians who may encounter patients with this syndrome. Chronic pain is discussed as well as interventions to manage symptoms such fatigue, dry eyes mouth and skin.

  14. Dandy-Walker Syndrome (United States)

    ... Organizations Publications Definition Dandy-Walker Syndrome is a congenital brain malformation involving the cerebellum (an area of the back ... and toes. × Definition Dandy-Walker Syndrome is a congenital brain malformation involving the cerebellum (an area of the back ...

  15. Meconium aspiration syndrome

    Directory of Open Access Journals (Sweden)

    I.O. Bushtyreva


    Full Text Available Pathophysiological aspects of formation and development of meconium aspiration syndrome, as well as peculiaritues of its development based on data from native and foreign literature are studied. Special emphasis is pointed out to possible diagnostic techniques and prevention of syndrome

  16. Anton's syndrome and eugenics

    DEFF Research Database (Denmark)

    Kondziella, Daniel; Frahm-Falkenberg, Siska


    Anton's syndrome is arguably the most striking form of anosognosia. Patients with this syndrome behave as if they can see despite their obvious blindness. Although best known for his description of asomatognosia and visual anosognosia, Gabriel Anton (1858-1933) made other significant contributions...

  17. Redefining syndromic surveillance

    Directory of Open Access Journals (Sweden)

    Rebecca Katz


    Full Text Available With growing concerns about international spread of disease and expanding use of early disease detection surveillance methods, the field of syndromic surveillance has received increased attention over the last decade. The purpose of this article is to clarify the various meanings that have been assigned to the term syndromic surveillance and to propose a refined categorization of the characteristics of these systems. Existing literature and conference proceedings were examined on syndromic surveillance from 1998 to 2010, focusing on low- and middle-income settings. Based on the 36 unique definitions of syndromic surveillance found in the literature, five commonly accepted principles of syndromic surveillance systems were identified, as well as two fundamental categories: specific and non-specific disease detection. Ultimately, the proposed categorization of syndromic surveillance distinguishes between systems that focus on detecting defined syndromes or outcomes of interest and those that aim to uncover non-specific trends that suggest an outbreak may be occurring. By providing an accurate and comprehensive picture of this field’s capabilities, and differentiating among system types, a unified understanding of the syndromic surveillance field can be developed, encouraging the adoption, investment in, and implementation of these systems in settings that need bolstered surveillance capacity, particularly low- and middle-income countries.

  18. Ramsay Hunt syndrome (United States)

    ... SP. Management of Bell's palsy and Ramsay Hunt syndrome. In: Brackmann DE, Shelton C, Arriaga MA, eds. Otologic Surgery . 4th ed. Philadelphia, PA: Elsevier; 2016:chap 27. Habif TP. Warts, ... Ramsay Hunt syndrome. In: Waldman SD, ed. Atlas of Uncommon Pain ...

  19. Colitis of Behcet's syndrome

    International Nuclear Information System (INIS)

    O'Connell, D.J.; Courtney, J.V.; Riddell, R.H.


    Three patients with Behcet's syndrome and colitis are described. The radiologic and histologic appearances of the colitis are discussed. The similarities of Behcet's colitis to Crohn's disease are outlined. The cases demonstrate the necessity to consider Behcet's syndrome in the differential diagnosis of inflammatory bowel disease. (orig.) [de

  20. Rothmund - Thomson Syndrome

    Directory of Open Access Journals (Sweden)

    Sharma N. L


    Full Text Available Rothmund-Thomson syndrome is a rare geno-photodermatosis of children. Poikilodermatous cutaneous changes, growth retardation, juvenile cataract and high incidence of malignancy are its classical features. A Thomson type of Rothmund-Thomson syndrome with characteristic poikiloderma congenitale, growth retardation, absence of juvenile cataract and parental non-consanguinity is described in an 8 year old Indian girl.

  1. Eosinophilic fasciitis (Shulman syndrome). (United States)

    Carneiro, Sueli; Brotas, Arles; Lamy, Fabrício; Lisboa, Flávia; Lago, Eduardo; Azulay, David; Cuzzi, Tulia; Ramos-e-Silva, Marcia


    We present a case of eosinophilic fasciitis, or Shulman syndrome, in a 35-year-old man and discuss its clinical and histopathologic aspects, as well as its relationship to scleroderma. Although controversial, the tendency is to set Shulman syndrome apart from all other sclerodermiform states.

  2. Central Cord Syndrome (United States)

    ... finding better ways to prevent, treat, and ultimately cure neurological disorders such as central cord syndrome. Information from the National Library of Medicine’s MedlinePlus Spinal ... cord syndrome is the most common form of incomplete spinal cord injury characterized by impairment in the arms and hands and to a lesser extent in the legs. ...

  3. Usher syndrome in Denmark

    DEFF Research Database (Denmark)

    Shzeena, Dad; Rendtorff, Nanna Dahl; Tranebjærg, Lisbeth


    BACKGROUND: Usher syndrome (USH) is a genetically heterogeneous deafness-blindness syndrome, divided into three clinical subtypes: USH1, USH2 and USH3. METHODS: Mutations in 21 out of 26 investigated Danish unrelated individuals with USH were identified, using a combination of molecular diagnostic...

  4. [Chronic glomerulonephritis syndrome (CGNS)]. (United States)

    Hayama, Naoaki


    Chronic glomerulonephritis syndrome is one of clinical classification in primary glomerulonephritis. Clinical classification of primary glomerulonephritis consists of five groups. (WHO 1995) They are acute nephritic syndrome, rapidly progressive nephritic syndrome, recurrent or persistent hematuria (proteinuria), chronic nephritic syndrome, and nephrotic syndrome. After therapy or renal biopsy, they have interaction with one another and many cases are followed up as chronic glomerulonephritis. In the long term clinical course, it is most important thing that not to deteriorate renal function by therapies. (blood pressure control, low protein diet, salt restriction) If there are not only glomerular change but also interstitial and vessel changes in renal biopsy the prediction of prognosis will be poor so it will be necessary to administer medication under strict observation.

  5. Eisenmenger Syndrome in Pregnancy

    Directory of Open Access Journals (Sweden)

    Shi-Min Yuan

    Full Text Available Abstract Eisenmenger syndrome is very rare in pregnant women. Debates remain concerning the management of Eisenmenger syndrome in this patient population and the prognosis is unclear in terms of maternal and fetoneonatal outcomes. Epidural analgesia is preferred for Cesarean section as it alleviates perioperative pain and reduces the pulmonary and systemic vascular resistances. Maternal mortality in the presence of Eisenmenger syndrome is reported as 30-50% and even up to 65% in those with Cesarean section. The major causes of death could be hypovolemia, thromboembolism and preeclampsia. Pregnancy should ideally be avoided in a woman with Eisenmenger syndrome concerning the high maternal mortality rate and probable poor prognosis of the baby. A short labour and an atraumatic delivery under epidural block are preferred in the women with a strong desire of pregnancy. The purpose of this article is to discuss the debates of Eisenmenger syndrome in pregnancy and the possible resolutions.

  6. Apert syndrome (acrocephalosyndactyly

    Directory of Open Access Journals (Sweden)

    Milovanović J.


    Full Text Available Apert syndrome is named for the French physician, Eugen Apert who was, in 1906. described anomalous shape of the skull with coronary suture synostosis and hypoplasia sphenoethmoidmaxillary part of the face and fingers syndactyly of hands and feet. Apert syndrome accounts for about 4,5% of all craniosynostosis. With the prevalence of 1:160 000-200 000, inherited in an autosomal domi­nant, and in 25% of cases are fresh mutations in the gene. This syndrome has no predilection by gender and race, varies in severity form in witch it is manifested. Anomality of internal organs are very rare, but half of the patients with this syndrome have mental retardation. Apert syndrome has no cure, but surgery can help to correct some of the problems.

  7. Hereditary intestinal polyposis syndromes. (United States)

    Dean, P A


    Colorectal cancer is one of the most common cancers in the world, with overall mortality exceeding 40% even with treatment. Effective efforts for screening and prevention are most likely to succeed in patient groups identified as high risk for colorectal cancer, most notably the hereditary intestinal polyposis syndromes. In these syndromes, benign polyps develop throughout the intestinal tract prior to the development of colorectal cancer, marking the patient and associated family for precancer diagnosis followed by either close surveillance or preventive treatment. This review article was undertaken to discuss the most recent developments in the knowledge of hereditary intestinal polyposis syndromes, emphasizing the clinical approach to diagnosis and treatment relative to preventing the development of cancer. The most common of the hereditary polyposis syndromes is familial adenomatous polyposis (FAP), which is characterized by the development of hundreds to thousands of adenomatous polyps in the colon followed at an early age by colorectal cancer. Colorectal cancer can be prevented in this autosomal dominant condition by prophylactic colectomy, though a risk for other tumors, including periampullary cancers, remains throughout life. Variant of FAP associated with fewer and smaller polyps (hereditary flat adenoma syndrome), or even CNS tumors (Turcot's syndrome) also carry this high risk of colorectal cancer. Hereditary hamartomatous polyposis syndromes such as juvenile polyposis and Peutz-Jeghers syndrome (also autosomal dominant) are characterized by less frequent polyps. Though these are generally benign polyps, they are also associated with a significant risk of colorectal and other cancers. Other polyposis syndromes, including neurofibromatosis and Cowden's disease, do not carry this increased risk of colorectal cancer, and therefore affect different treatment strategies. Analysis of genetic factors responsible for these and other hereditary syndromes with

  8. Down syndrome, RASopathies, and other rare syndromes. (United States)

    Kratz, Christian P; Izraeli, Shai


    In this article we discuss the occurrence of myeloid neoplasms in patients with a range of syndromes that are due to germline defects of the RAS signaling pathway and in patients with trisomy 21. Both RAS mutations and trisomy 21 are common somatic events contributing to leukemogenis. Thus, the increased leukemia risk observed in children affected by these conditions is biologically highly plausible. Children with myeloid neoplasms in the context of these syndromes require different treatments than children with sporadic myeloid neoplasms and provide an opportunity to study the role of trisomy 21 and RAS signaling during leukemogenesis and development. Copyright © 2017 Elsevier Inc. All rights reserved.


    Directory of Open Access Journals (Sweden)



    Full Text Available A 30 year old female patient came with redness, pain and watering in her left eye since five days. Past history included sudden loss of vision in right eye two years back following birth of a stillborn ba by due to preeclampsia. On examination she had hyperpigmentation of the face and neck. Both the eyes showed patchy hyperpigmentation all around the limbus. Right eye showed 10 degrees of exotropia with afferent pupillary defect. Intraocular pressure was ra ised to 29 mm of Hg. The Right disc C/D ratio was 0.7 with pallor. The left eye showed signs & symptoms suggestive of acute iridocyclitis with normal IOP. Left visual acuity had dropped to 20/60. Further investigation confirmed the patient had generalised non inflammatory scleral thinning on UBM and associated conductive hearing loss. This is therefore an unusual case of Nevus of ota/Ito.

  10. Coexistence of Reverse Capgras Syndrome, Subjective Double and Cotard Syndrome

    Directory of Open Access Journals (Sweden)

    Azadeh Mashayekhi


    Full Text Available Misidentification syndrome is a condition in which the person thinks that familiar persons have been replaced with other one. Coexistence of some types of this syndrome has been reported with other psychiatric syndromes. In this report, we present a 47-year-old married man with coexistence of reverse Capgras and subjective double syndromes with Cotard syndrome. There is no previous report of coexistence of these three forms of delusions in a single case.

  11. Posterior reversible encephalopathy syndrome presenting as Balint syndrome. (United States)

    Kumar, Sunil; Abhayambika, Archana; Sundaram, Arun N E; Sharpe, James A


    Balint syndrome is a disorder of inaccurate visually guided saccades, optic ataxia, and simultanagnosia that typically results from bilateral parieto-occipital lesions. Visual perception disturbances in the posterior reversible encephalopathy syndrome (PRES) include hemianopia, visual neglect, and cerebral blindness, but Balint syndrome had not been recognized. We report Balint syndrome associated with PRES in a 37-year-old woman with acute hypertension and systemic lupus erythematosus. Balint syndrome can be an initial presentation of PRES.

  12. Toxic Shock Syndrome (For Parents) (United States)

    ... Safe Videos for Educators Search English Español Toxic Shock Syndrome KidsHealth / For Parents / Toxic Shock Syndrome What's ... en español Síndrome de shock tóxico About Toxic Shock Syndrome Toxic shock syndrome (TSS) is a serious ...

  13. Sjögren syndrome (United States)

    Xerostomia - Sjögren syndrome; Keratoconjunctivitis sicca - Sjögren; Sicca syndrome ... The cause of Sjögren syndrome is unknown. It is an autoimmune disorder. This means the body attacks healthy tissue by mistake. The syndrome occurs most ...


    Balint, I; Vučak, J; Bašić-Marković, N; Klarić, D; Šakić, V Amerl


    Cardiorenal syndrome, a complex pathophysiological disorder of both the heart and kidneys, is a condition in which acute or chronic damage to one organ can lead to acute or chronic dysfunction of the other organ. Depending on primary organ dysfunction and disease duration, there are five different types of cardiorenal syndrome. Type 1 cardiorenal syndrome (acute cardiorenal syndrome) is defined as acute kidney injury caused by sudden decrease in heart function. Type 2 cardiorenal syndrome (chronic cardiorenal syndrome) refers to chronic kidney disease linked to chronic heart failure. Type 3 cardiorenal syndrome (acute renocardial syndrome) is caused by acute kidney injury that leads to heart failure. Type 4 cardiorenal syndrome (chronic renocardial syndrome) includes chronic heart failure due to chronic kidney disease. Type 5 cardiorenal syndrome (secondary cardiorenal syndrome) is reversible or irreversible condition marked by simultaneous heart and kidney insufficiency, as a result of multiorgan disease such as sepsis, diabetes mellitus, sarcoidosis, amyloidosis, etc. The pathophysiological patterns of cardiorenal syndrome are extremely complicated. Despite numerous publications, perplexed physiological, biochemical and hormonal disturbances as parts of the main pathogenic mechanisms of cardiorenal syndrome remain obscure. Even though there are guidelines for the treatment of patients with heart failure and chronic kidney disease, similar guidelines for the treatment of cardiorenal syndrome are lacking. In everyday practice, it is crucial to diagnose cardiorenal syndrome and use all diagnostic and therapeutic procedures available to prevent or alleviate kidney and heart failure.

  15. [Cramp-fasciculation syndrome]. (United States)

    Lagueny, A


    The cramp-fasciculation syndrome is a rare clinical entity in comparison with the frequency of cramps and isolated fasciculations in the general population. It is recognized as a benign syndrome without weakness and atrophy, however a few reports suggest that it may precede the occurrence of a motor neuron disease. Most often, the cramp-fasciculation syndrome is idiopathic and may be a component of a hyperexcitable peripheral nerve syndrome including other activities such as myokymia and neuromyotonia where antibodies to voltage-gated potassium channels (VGKCs) appear to be one of the effector mechanisms. The most complete form of this hyperexcitable peripheral nerve syndrome is Isaacs' syndrome. The central nervous system is also concerned with anti-VGKC antibodies found in Morvan's disease and limbic encephalitis which is often a paraneoplastic condition. These findings extend the spectrum of the anti-VGKC syndrome that may be associated with other auto-immune diseases, chiefly myasthenia gravis with thymoma. Carbamazepine and phenytoin cause reduction of the clinical and electrophysiological signs of the nerve hyperexcitability, and plasmapheresis and (or) immunosuppressors are useful when an auto-immune origin is considered.

  16. The Marfan syndrome genetics

    Directory of Open Access Journals (Sweden)

    Galina Pungerčič


    Full Text Available Background: The Marfan syndrome is an autosomal dominant heritable disorder of connective tissue. It is caused by mutations in the fibrillin-1 gene encoding glycoprotein fibrillin-1, a component of microfibrils of extracellular matrix. Patients with Marfan syndrome show wide spectra of clinical signs, primarily on skeletal, cardiovascular and ocular organ systems. Cardiovascular complications (especially aortic aneurysm and aortic dissection are the most common cause of mortality of Marfan syndrome patients. Discovering genotype-phenotype correlations is complicated because of the large number of mutations reported as well as clinical heterogeneity among individuals with the same mutation. Despite the progress in the knowledge of the molecular nature of Marfan syndrome the diagnosis is still based mainly on the clinical features in the different body systems.Conclusions: Early identification of patient with Marfan syndrome is of considerable importance because of appropriate treatment that can greatly improve life expectancy. Unfortunately, despite the improvement of diagnostic methods, medical and surgical therapy, the mortality due to undiagnosed Marfan syndrome is still high. The present article reviews the molecular genetic studies of Marfan syndrome since the discovery of the mutations in the fibrillin-1 gene.

  17. Isolated central vestibular syndrome. (United States)

    Kim, Sung-Hee; Park, Seong-Ho; Kim, Hyo-Jung; Kim, Ji-Soo


    Isolated vestibular syndrome may occur all along the vestibular pathways from the peripheral labyrinth to the brain. By virtue of recent developments in clinical neurotology and neuroimaging, however, diagnosis of isolated central vestibulopathy is increasing. Here, we review five distinct syndromes of isolated central vestibular syndrome from lesions restricted to the vestibular nuclei, the nucleus prepositus hypoglossi, the flocculus, the tonsil, and the nodulus, and introduce a new vestibular syndrome from isolated involvement of the inferior cerebellar peduncle. Decreased responses to head impulses do not exclude a central lesion as a cause of isolated vestibular syndrome. Brain imaging, including diffusion-weighted magnetic resonance imaging (MRI), may be falsely negative during the acute phase in patients with isolated vestibular syndrome because of a stroke. Central signs should be sought carefully in patients with isolated vertigo, even when the patients show the features of peripheral vestibulopathy and negative MRIs. Recognition of these isolated central vestibular syndromes would aid in defining the lesions responsible for various vestibular manifestations in central vestibulopathy. © 2015 New York Academy of Sciences.

  18. Rare case of nephrotic syndrome: Schimke syndrome. (United States)

    Pedrosa, Anna Kelly Krislane de Vasconcelos; Torres, Luiz Fernando Oliveira; Silva, Ana Corina Brainer Amorim da; Dantas, Adrianna Barros Leal; Zuntini, Káthia Liliane da Cunha Ribeiro; Aguiar, Lia Cordeiro Bastos


    Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia. It is a rare genetic disorder, with few reports in the literature. The most frequent renal involvement is nephrotic syndrome with focal segmental glomerulosclerosis and progressive renal failure. The objective of this study was to report a case of Schimke syndrome, diagnostic investigation and management of the case. Resumo A síndrome Schimke corresponde à displasia imuno-óssea, associada à doença renal progressiva secundária à síndrome nefrótica córtico-resistente, podendo haver outras anormalidades como hipotireoidismo e aplasia de medula óssea. Trata-se de uma patologia genética rara, com poucos relatos na literatura. O acometimento renal mais frequente é uma síndrome nefrótica por glomeruloesclerose segmentar e focal e falência renal progressiva. O objetivo deste estudo foi relatar um caso de síndrome de Schimke, investigação diagnóstica e condução do caso.

  19. Pediatric Toxic Shock Syndrome

    Directory of Open Access Journals (Sweden)

    Jennifer Yee


    Full Text Available Audience: This scenario was developed to educate emergency medicine residents on the diagnosis and management of a pediatric patient with toxic shock syndrome. The case is also appropriate for teaching of medical students and advanced practice providers, as well as a review of the principles of crisis resource management, teamwork, and communication. Introduction: Toxic shock syndrome is a low-frequency, high-acuity scenario requiring timely identification and aggressive management. If patients suffering from this condition are managed incorrectly, they may progress into multi-organ dysfunction and potentially death. Toxic shock syndrome has been associated with Streptococcus and Staphylococcus aureus (Staph. Approximately half of Staph cases are associated with menstruation, which was first described in the 1970s-1980s and was associated with the use of absorbent tampons.1 Group A Streptococcus may cause complications such as necrotizing fasciitis and gangrenous myositis.2 Pediatric patients may present critically ill from toxic shock syndrome. Providers need to perform a thorough history and physical exam to discern the source of infection. Management requires aggressive care with antibiotics and IV fluids. Objectives: By the end of this simulation session, the learner will be able to: 1 Recognize toxic shock syndrome. 2 Review the importance of a thorough physical exam. 3 Discuss management of toxic shock syndrome, including supportive care and the difference in antibiotic choices for streptococcal and staphylococcal toxic shock syndrome. 4 Appropriately disposition a patient suffering from toxic shock syndrome. 5 Communicate effectively with team members and nursing staff during a resuscitation of a critically ill patient. Method: This session was conducted using high-fidelity simulation, followed by a debriefing session and lecture on toxic shock syndrome.

  20. Gardner′s Syndrome

    Directory of Open Access Journals (Sweden)

    Sapna Panjwani


    Full Text Available Gardner′s syndrome is an autosomal dominant disease and is a subtype of familial adenomatous polyposis. It is characterized by adenomatous intestinal polyps, multiple osteomas in the skull, maxillae, mandible, and multiple cutaneous and subcutaneous masses (epidermoids and desmoid. Intestinal polyps, if not treated, have 100% chance of becoming malignant. We report a case of a 25-year-old female patient with Gardner′s syndrome, with clinical manifestations including impacted supernumerary teeth, odontomes, sebaceous cyst on the scalp, and osteomas. It is important for the general dental practitioners to be aware of the clinical and radiological characteristics of Gardner′s syndrome.

  1. Iliopsoas Syndrome in Dancers. (United States)

    Laible, Catherine; Swanson, David; Garofolo, Garret; Rose, Donald J


    Coxa saltans refers to a constellation of diagnoses that cause snapping of the hip and is a major cause of anterior hip pain in dancers. When the internal type is accompanied by weakness or pain, it is referred to as iliopsoas syndrome. Iliopsoas syndrome is the result of repetitive active hip flexion in abduction and can be confused with other hip pathology, most commonly of labral etiology. To report the incidence, clinical findings, treatment protocol, and results of treatment for iliopsoas syndrome in a population of dancers. Retrospective case series; Level of evidence, 4. A retrospective database review of 653 consecutive patients evaluated for musculoskeletal complaints over a 3-year period was completed. The diagnosis of iliopsoas syndrome was made based on anterior hip or groin pain, weakness with resisted hip flexion in abduction, or symptomatic clicking or snapping with a positive iliopsoas test. Patients identified with iliopsoas syndrome were further stratified according to age at time of onset, insidious versus acute onset, duration of symptoms, side of injury, presence of rest pain, pain with activities of daily living, and associated lower back pain. All patients diagnosed with iliopsoas syndrome underwent physical therapy, including hip flexor stretching and strengthening, pelvic mobilization, and modification of dance technique or exposure as required. A total of 49 dancers were diagnosed and treated for iliopsoas syndrome. Within this injured population of 653 patients, the incidence in female dancers was 9.2%, significantly higher than that in male dancers (3.2%). The mean age at the time of injury was 24.6 years. The incidence of iliopsoas syndrome in dancers younger than 18 years was 12.8%, compared with 7% in dancers older than 18 years. Student dancers had the highest incidence (14%), followed by amateur dancers (7.5%), while professional dancers had the lowest incidence (4.6%). All patients responded to conservative treatment, and no

  2. Bouveret's Syndrome: diagnostic considerations

    International Nuclear Information System (INIS)

    Cooper, S.G.; Sherman, S.B.; Steinhardt, J.E.; Wilson, J.M. Jr.; Richman, A.H.


    Bouveret's syndrome is a rare disease entity manifested by the formation of a cholecystoduodenal or choledochoduodenal fistula with passage of a gallstone into the duodenal bulb and subsequent obstruction of the gastric outlet. To date, no report of this entity using computed tomographic (CT) imaging is available. This article presents a case of Bouveret's syndrome with the classic findings on upper gastrointestinal (GI) tract series and a description of the CT manifestations. The literature is reviewed with discussion of the diagnostic approach to patients with Bouveret's syndrome

  3. Recurrent Miller Fisher syndrome. (United States)

    Madhavan, S; Geetha; Bhargavan, P V


    Miller Fisher syndrome (MFS) is a variant of Guillan Barre syndrome characterized by the triad of ophthalmoplegia, ataxia and areflexia. Recurrences are exceptional with Miller Fisher syndrome. We are reporting a case with two episodes of MFS within two years. Initially he presented with partial ophthalmoplegia, ataxia. Second episode was characterized by full-blown presentation characterized by ataxia, areflexia and ophthalmoplegia. CSF analysis was typical during both episodes. Nerve conduction velocity study was fairly within normal limits. MRI of brain was within normal limits. He responded to symptomatic measures initially, then to steroids in the second episode. We are reporting the case due to its rarity.

  4. Dostoevsky and Stendhal's syndrome. (United States)

    Amâncio, Edson José


    Stendhal's syndrome occurs among travelers when they encounter a work of art of great beauty. It is characterized by an altered perception of reality, emotional disturbances, and crises of panic and anxiety with somatization. The patient profile described originally for this syndrome was of particularly sensitive individuals who were admirers of works or art: artists, poets, writers and art students, among others. The Russian writer Fyodor Mikhailovich Dostoevsky suffered from epilepsy and there is evidence that he presented the symptoms of Stendahl's syndrome while contemplating some works of art, particularly when viewing Hans Holbein's masterpiece, Dead Christ, during a visit to the museum in Basle.

  5. Capgras syndrome in adolescence. (United States)

    Jackson, R S; Naylor, M W; Shain, B N; King, C A


    Capgras syndrome, the delusion of substitution, has rarely been reported in adolescents. The etiology is unknown, and intense controversy surrounds the debate over the relative importance of biological versus psychological factors. Presented here are two cases of Capgras syndrome in adolescents and a review of the relevant biological, neuropsychological, and psychodynamic literature. The authors suggest that the psychological processes underlying the Capgras delusion are mediated by neuroanatomical connections between various brain areas and hypothesize that the fundamental lesion in Capgras syndrome may be the patient's inability or failure to acknowledge the authenticity of a person they clearly recognize.

  6. Cantu syndrome and lymphoedema. (United States)

    García-Cruz, Diana; Mampel, Alejandra; Echeverria, Maria I; Vargas, Ana L; Castañeda-Cisneros, Gema; Davalos-Rodriguez, Nory; Patiño-Garcia, Brenda; Garcia-Cruz, Maria O; Castañeda, Victor; Cardona, Ernesto G; Marin-Solis, Bertha; Cantu, Jose M; Nuñez-Reveles, Nelly; Moran-Moguel, Cristina; Thavanati, Pavarthi K R; Ramirez-Garcia, Sergio; Sanchez-Corona, Jose


    Three female patients with Cantu syndrome were studied, two of whom were adults presenting with the complication of lymphoedema, as described earlier in a male patient with this syndrome. The aim of this study is to report the clinical characteristics of these three new cases and to emphasize that lymphoedema, as observed in two of the patients described here, has been observed in 11.5% of patients with Cantu syndrome and that heterochromia iridis, observed in one patient, is probably a new feature of this condition.

  7. Melkersson-rosenthal syndrome. (United States)

    Sharma, D R; Resident, S; Mohan, C; Minnas, R S; Mohindroo, N K; Sharma, M L


    Melkersson - Rosenthal syndrome was described by Melkersson and Rosenthal separately in the year 1928 and 1931 respectively. It is supposed to be a rare syndrome of bilateral alternating recurrent facial paralysis alongwith fissured tongue and oedema of the lips, face and eyelids. A case of Melkersson - Rosenthal syndrome is reported with all the classic findings which is a rarity. In this case there was alternating facial paralysis to begin with followed by bilateral paralysis third time, along with oedema of lips and face, fissured tongue, and dialation of sig-moid colon with absence of haustrations.

  8. Olfactory Reference Syndrome

    Directory of Open Access Journals (Sweden)

    Alper Evrensel


    Full Text Available Olfactory reference syndrome is a delusional disorder in which the patient persistently and falsely believes that his or her body emits a foul odor. The disease is considered a variant of somatic type of delusional disorder under the diagnostic systems. Similarities between olfactory reference syndrome and obsessive compulsive disorder have also been noted. The etiopathogenesis of the disorder has not yet been clarified. Antidepressants, antipsychotics and psychotherapy are used in the treatment of this disorder. The aim of this article was to review clinical features, neurobiology, differantial diagnosis, classification problems and treatment of olfactory reference syndrome.

  9. [The Reye syndrome]. (United States)

    Tanret, I; Duh, D


    The Reye syndrome is a complex disease that remains little-known despite its severity. It can occur in children of all ages, and is often fatal, while surviving children often display neurological damage. The therapy is symptomatic and supportive. The diagnosis of Reye's syndrome is not straightforward, as the symptoms are very diverse. The causes of the disease are moreover still unclear, and, after many years of discussion and research, it can still not be proved irrefutably whether administration of acetylsalicylic acid to children suffering from viral infections is a factor in the development of Reye's syndrome.

  10. Treatment in Postconcussional Syndrome

    Directory of Open Access Journals (Sweden)

    Necla Keskin


    Full Text Available Postconcussional syndrome is characterized by somatic, cognitive and psychiatric (emotional, behavioral symptoms that occur after mild traumatic brain injury. These symptoms usually recover fully within 3-6 months almost in 90% of patients. Persistent post-concussion symptoms could occur in 10% of patients. Diagnosis is based on the subjective complaints and the treatment of the syndrome is mainly of palliative nature. The patient should be educated about the nature and outcome of the syndrome and reassured that almost all symptoms recover fully within 3-6 months. Multifaceted rehabilitation programs and cognitive behavioral therapy could be beneficial. Pharmacotherapy and somatic therapy are other options for persistent symptoms.

  11. Radiology of syndromes

    International Nuclear Information System (INIS)

    Taybi, H.


    In the course of 20 years, the author has investigated the radiological aspects of many different syndromes. 541 of them are listed in this book, together with their typical X-ray pictures. Congenital deformities, genetic diseases, and acquired diseases with typical combinations of sigs and symptoms are presented with information on how to identify them. Clinical manifestations are briefly characterized, and hereditary aspects are mentioned. Pathological characteristics and names of the syndromes are presented. A bibliography is given for every syndrome for those who intend to deepen their knowledge. (orig./MG) [de

  12. Mobious syndrome: MR findings

    Directory of Open Access Journals (Sweden)

    Maskal Revanna Srinivas


    Full Text Available Möbius syndrome is an extremely rare congenital disorder. We report a case of Möbius syndrome in a 2-year-old girl with bilateral convergent squint and left-sided facial weakness. The characteristic magnetic resonance imaging (MRI findings of Möbius syndrome, which include absent bilateral abducens nerves and absent left facial nerve, were noted. In addition, there was absence of left anterior inferior cerebellar artery (AICA and absence of bilateral facial colliculi. Clinical features, etiology, and imaging findings are discussed.

  13. Bullous Wells’ syndrome

    Directory of Open Access Journals (Sweden)

    Bengu Cevirgen Cemil


    Full Text Available Wells’ syndrome (WS is an uncommon inflammatory skin disease which typically presents single or multiple erythematous and edematous urticarial plaques similar to cellulitis. The lesions may evolve into blue-grey morphea-like lesions and may persist for weeks or months. They ultimately heal without scar. Other clinical presentations reported in literature include papular and nodular and, rarely, bullous eruptions. Previously, bullous Wells’ syndrome was rarely reported in the literature. Herein, we describe a case of a female patient with bullous Wells’ syndrome localized to the upper limbs without any associated disorders.

  14. Congenital nephrotic syndrome (United States)

    ... syndrome . It occurs mostly in families of Finnish origin and develops shortly after birth. It is inherited, ... amount of protein leaking into the urine Diuretics ("water pills") to remove excess fluid Nonsteroidal anti-inflammatory ...

  15. Sjogren-Larsson Syndrome (United States)

    ... SLS is dry, scaly skin, which is called ichthyosis. In addition to these and can develop some ... clinical names of Sjogren-Larsson Syndrome include: SLS Ichthyosis, Spastic Neurological Disorder, and Oligophrenia Fatty Alcohol: NAD+ ...

  16. Premenstrual Syndrome (PMS) (United States)

    ... pain Premenstrual syndrome (PMS) Symptoms & causes Diagnosis & treatment Advertisement Mayo Clinic does not endorse companies or products. ... a Job Site Map About This Site Twitter Facebook Google YouTube Pinterest Mayo Clinic is a not- ...

  17. Catastrophic Antiphospholipid Syndrome

    Directory of Open Access Journals (Sweden)

    Rawhya R. El-Shereef


    Full Text Available This paper reports one case of successfully treated patients suffering from a rare entity, the catastrophic antiphospholipid syndrome (CAPS. Management of this patient is discussed in detail.

  18. Children with Usher syndrome

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup


    Background: Mental and behavioral disorders among adults with Usher syndrome have been discussed and reported in some case studies but no research has been reported on children with Usher syndrome. Methods: This article investigates the prevalence and characteristics of mental and behavioral...... disorders among 26 children, 3-17 years of age, with Usher syndrome. Results: Six of the 26 children were diagnosed with a mental or behavioral disorder (1 with schizophrenia and mild mental retardation, 1 with atypical autism and severe mental retardation, 1 with atypical autism and mild mental retardation......, 1 with mild mental retardation, and 2 with conduct disorder). Another 3 children had had a mental or behavioral disorder previously in their childhood. Conclusion: Even though vision impairment first manifests in late childhood, some children with Usher syndrome seem to develop mental and behavioral...

  19. Vogt koyanagi harada syndrome

    Directory of Open Access Journals (Sweden)

    Amin S


    Full Text Available A case of Vogt Koyanagi Harada syndrome is reported. The depigmented macules appeared initially over eyebrows and around both eyes after an episode of fever and then rapidly involved almost the entire body within 6 months.


    Directory of Open Access Journals (Sweden)

    Dmitriy Valer'evich Artem'ev


    Full Text Available The paper describes the epidemiology, etiology, pathogenesis, clinical picture, diagnosis, differential diagnosis, and treatment of restless legs syndrome. Recommendations are given how to choose therapeutic modalities and drugs in relation to different factors.

  1. Landau-Kleffner Syndrome (United States)

    ... misdiagnosed as autism, pervasive developmental disorder, hearing impairment, learning disability, auditory/verbal processing disorder, attention deficit disorder, childhood schizophrenia, or emotional/behavioral problems. × Definition Landau-Kleffner syndrome (LKS) is a rare, ...

  2. Anisocoria and Horner's Syndrome (United States)

    ... syndrome. This is a condition most common in young adult females, which usually begins in one eye. The ... Conjunctivitis Corneal Abrasions Dilating Eye Drops Lazy eye (defined) Pink eye (defined) Retinopathy of Prematurity Strabismus Stye ( ...

  3. The Expert Syndrome. (United States)

    Oliva, Peter F.; Henson, Kenneth T.


    The curriculum and instruction specialist should not fall prey to the "expert syndrome," in which the specialist decides on the "best" curriculum or instructional method without considering the teacher's discipline or personality. (CJ)

  4. Bardet-Biedl Syndrome (United States)

    ... Conference Audio/Video Recordings For Researchers & Industry Funding Philosophy Funded Grants & Researchers Apply for Funding Clinical Research ... problems but rarely polydactyly. Polydactyly is a defining feature of Bardet-Biedl syndrome, while neurologic problems almost ...

  5. Joubert Syndrome, A Ciliopathy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap


    Full Text Available Investigators at Neurogenetics Unit, Mendel Laboratory, Rome, and University of Salerno, Italy, review the clinical features and genetic basis of Joubert syndrome, overlap with other ciliopathies, and the multifaceted roles of primary cilia in CNS development.

  6. Testicular dysgenesis syndrome

    DEFF Research Database (Denmark)

    Skakkebaek, N E; Rajpert-De Meyts, E; Main, K M


    summarizes existing evidence supporting a new concept that poor semen quality, testis cancer, undescended testis and hypospadias are symptoms of one underlying entity, the testicular dysgenesis syndrome (TDS), which may be increasingly common due to adverse environmental influences. Experimental...

  7. Det hepatopulmonale syndrome

    DEFF Research Database (Denmark)

    Eibye, Simone; Christensen, Erik


    The hepatopulmonary syndrome (HPS) - a complication of liver disease - seems to be underdiagnosed, probably because of decreased awareness. HPS consists of the triade liver disease, intrapulmonary vascular dilatation and as a consequence arterial hypoxaemia. No medical therapy has proven effective...

  8. Learning about Marfan Syndrome (United States)

    Skip to main content Learning About Marfan Syndrome Enter Search Term(s): Español Research Funding An Overview Bioinformatics Current Grants Education and Training Funding Extramural Research News Features Funding Divisions Funding ...

  9. Ehlers- Danlos Syndrome

    Directory of Open Access Journals (Sweden)

    Prasanta Basak


    Full Text Available A female patient had Ehlers-Danlos syndrome type II since infancy, manifesting with hyperextensible skin and ciagarette paper scars at the sites of trauma. Treatment with vitamin C 1 gm a day seemed to be useful.

  10. Ehlers-Danlos' Syndrom

    DEFF Research Database (Denmark)

    Leganger, Julie; Søborg, Marie-Louise Kulas; Farholt, Stense


    Ehlers-Danlos syndrome (EDS) comprises a group of diseases characterized by connective tissue fragility. The clinical symptoms primarily involve the skin, joints, blood vessels and internal organs. Diagnosing EDS is complicated because of the clinical variability, imprecise diagnostic criteria...

  11. Exogenous Cushing syndrome (United States)

    ... syndrome occurs when a person takes man-made (synthetic) glucocorticoid medicines to treat a disease. Glucocorticoids are given for many diseases, such as lung diseases, skin conditions, inflammatory bowel disease, cancer, brain tumors, and ...

  12. LEOPARD-syndrom

    DEFF Research Database (Denmark)

    Hansen, Lars Kjaersgård; Risby, Kirsten; Bygum, Anette


    We describe a 12-year-old boy with a typical phenotype of the LEOPARD syndrome (LS). The diagnosis was confirmed in the boy and his mother, who both had a mutation in the PTPN11 gene at Thr468Met (c.1403C > T). Several other members of the maternal family are suspected also to have the LEOPARD sy...... syndrome. We discuss the clinical characteristics of LS, the need for follow-up and genetic counselling, and the molecular-genetic background as well as the relationship to the allelic disease Noonan syndrome. Udgivelsesdato: 2009-Jan-26......We describe a 12-year-old boy with a typical phenotype of the LEOPARD syndrome (LS). The diagnosis was confirmed in the boy and his mother, who both had a mutation in the PTPN11 gene at Thr468Met (c.1403C > T). Several other members of the maternal family are suspected also to have the LEOPARD...

  13. Parental Alienation Syndrome

    Directory of Open Access Journals (Sweden)

    Fuat Torun


    Full Text Available Children who have been programmed by one parent to be alienated from the other parent are commonly seen in the context of child-custody disputes. Its primary manifestation is the child’s campaign of denigration against a parent, a campaign that has no justification. It is said to result from a combination of a programming (brainwashing parent’s indoctrinations and the child’s own contributions to the vilification of the targeted parent. Many evaluators use the term parental alienation syndrome to refer to the disorder engendered in such children. However, there is significant controversy going on about the validity of parental alienation syndrome. The purpose of this article has been to describe and help to differentiate parental alienation syndrome and abuse for mental health professionals working in the field, and discuss the arguments about the validity of this syndrome.

  14. Burning Mouth Syndrome (United States)

    ... prescribe medications to help you manage the pain, dry mouth, or other symptoms. More Burning Mouth Health Info Publications Cover image Burning Mouth Syndrome Publication files Download Language English PDF ( Number of ...

  15. Overview of Barth Syndrome (United States)

    ... syndrome children should be tested in order to define the genetic risk in each family. Any male ... other websites, our site may utilize a standard technology called "cookies" (see explanation below, "What Are Cookies?") ...

  16. Fragile X syndrome (United States)

    ... of puberty Subtle differences in face features In females, excess shyness may be the only sign of ... X syndrome. Instead, training and education have been developed to help affected children function ...

  17. Polycystic Ovary Syndrome (PCOS) (United States)

    ... About Share Facebook Twitter Pinterest Email Print About Polycystic Ovary Syndrome (PCOS) PCOS is a set of symptoms related to ... women and girls of reproductive age. What is PCOS? PCOS is a set of symptoms related to ...

  18. Turner Syndrome (For Parents) (United States)

    ... and other problems, with the right medical care, early intervention, and ongoing support, a girl with Turner syndrome ... maturity before kindergarten. If learning problems are found, early preventive and intervention strategies can help. Looking Ahead Girls with Turner ...

  19. Polycystic Ovary Syndrome (PCOS) (United States)

    ... Cysts (fluid-filled sacs) on one or both ovaries—"polycystic" literally means "having many cysts" Some women diagnosed ... Citations American College of Obstetricians and Gynecologists. (2015). Polycystic ovary syndrome . Retrieved May 20, 2016, from http://www. ...

  20. Ehlers-Danlos syndrome

    Directory of Open Access Journals (Sweden)

    Wakhloo Tulika


    Full Text Available Ehlers-Danlos syndrome is a group of clinically and genetically heterogeneous inherited connective tissue disorders with widespread manifestations. The prevalence of this syndrome is 1:5000 worldwide without gender, racial or ethnic associations. This syndrome is characterized by joint hypermobility, dermal hyperelasticity and tissue fragility caused by mutations in genes encoding collagen type I, III, V and enzymes involved in the posttranslational modifications of collagen. The oral manifestations include increased mucosal fragility, delayed wound healing, early onset generalized periodontitis and temporomandibular joint hypermobility. Children presenting with this syndrome are often misdiagnosed for hematological problem as they present with bruising, malignancy and/or child abuse. A thorough assessment of the patient is, therefore, essential for early diagnosis and patient referral. This paper reviews current literature, oral manifestations, diagnostic investigations and effective dental management.

  1. Treacher Collins Syndrome (United States)

    ... cleft palate is a frequently associated conditions this syndrome. Cleft palate itself sometimes can cause feeding problems and increase the risk of middle ear problems. Your child’s primary care provider or cleft palate or craniofacial ...

  2. Holmes-Adie Syndrome (United States)

    ... It is rarely an inherited condition. View Full Definition Treatment Doctors may prescribe reading glasses to compensate for impaired vision in the ... treatment for excessive sweating. × ... Definition Holmes-Adie syndrome (HAS) is a neurological disorder ...

  3. 47,XXY Klinefelter syndrome

    DEFF Research Database (Denmark)

    Aksglaede, Lise; Link, Katarina; Giwercman, Aleksander


    to 75% of the patients left undetected. Typically, diagnosis is delayed with the majority of patients identified during fertility workup in adulthood, and only 10% of patients diagnosed prior to puberty. Early detection of this syndrome is recommended in order to offer treatment and intervention...... at the appropriate ages and stages of development for the purpose of preventing osteopenia/osteoporosis, metabolic syndrome, and other medical conditions related to hypogonadism and to the XXY as well as minimizing potential learning and psychosocial problems. The aim of this review is to present the clinical......47,XXY (Klinefelter syndrome) is the most frequent sex chromosomal disorder and affects approximately one in 660 newborn boys. The syndrome is characterized by varying degrees of cognitive, social, behavioral, and learning difficulties and in adulthood additionally primary testicular failure...

  4. Lennox-Gastaut Syndrome (United States)

    ... central nervous system infection and inherited degenerative or metabolic conditions. In 30-35 percent of cases, no cause can be found. Treatment Treatment for Lennox-Gastaut syndrome includes clobazam and anti-epileptic medications such as ...

  5. What is Down Syndrome? (United States)

    ... mild to moderate. Due to advances in medical technology, individuals with Down syndrome are living longer than ... the typical education system and take part in sports, music, art programs and any other activities in ...

  6. Thoracic Insufficiency Syndrome (United States)

    ... Radiation Exposure in Scoliosis Kyphosis Adolescent Back Pain Spondylolysis For Adolescents For Adults Common Questions & Glossary Resources ... Radiation Exposure in Scoliosis Kyphosis Adolescent Back Pain Spondylolysis For Adolescents For Adults Thoracic Insufficiency Syndrome (TIS) ...

  7. Sturge-Weber Syndrome (United States)

    ... be performed on more serious cases of glaucoma. Physical therapy should be considered for infants and children with muscle weakness. ... syndrome is a neurological disorder indicated at birth by a port-wine ...

  8. Ellis Von Creveld Syndrome

    Directory of Open Access Journals (Sweden)

    Afshar H


    Full Text Available One patient with Ellis Von Creveld syndrome contains: dwarfism, congenital heart"ndisease, ectodermal dysplasia, polyductyly, an abnormally wide labial frenum and maxillary"nmolars with single root.

  9. Facts about Down Syndrome (United States)

    ... of the Aorta D-Transposition of the Great Arteries Hypoplastic Left Heart Syndrome Pulmonary Atresia Tetralogy of ... Privacy FOIA No Fear Act OIG 1600 Clifton Road Atlanta , GA 30329-4027 USA 800-CDC-INFO ( ...

  10. CT of Mirizzi syndrome

    International Nuclear Information System (INIS)

    Yamamoto, Shinichiro; Fukushima, Keisuke; Ishihara, Kenji; Hirano, Yutaka; Sano, Kaizo


    PTC or ERCP findings of four cases of Mirizzi syndrome were demonstrated. They consisted of a smooth stricture of the common hepatic duct, curved impressions of the duct and dilatation of proximal biliary radicles. CT could visualize the impacted stone in the neck of the gallbladder, dilatation of proximal common hepatic and intrahepatic duct. Absence of the dilatation of distal common bile duct could also be confirmed by CT, thus the diagnosis of Mirizzi syndrome might be possible by CT. (author)

  11. Ectopic ACTH syndrome


    Isidori, Andrea M.; Lenzi, Andrea


    Ectopic adrenocorticotropic secretion (EAS) is responsible for 12-17% of cases of Cushing's syndrome (CS) and covers a range of tumours, from undetectable benign lesions to widespread metastases. The syndrome is often associated with severe hypercortisolaemia, which aggravates the underlying condition. EAS requires a complete workup that includes the establishment of endogenous CS, diagnosis of adrenocorticotropic hormone (ACTH) dependency, localization of the source of ACTH secretion and rap...

  12. [Grisel's syndrome after otoplasty]. (United States)

    Durst, F; Staudenmaier, R; Pilge, H; Lauen, J; Prodinger, P; Holzapfel, K; Pickhard, A


    Grisel's syndrome is known as a very rare complication of ENT surgery. It is described as non-traumatic atlantoaxial rotatory subluxation, often seen after tonsillectomy or adenoidectomy in children. Therapy is staged according to the Fielding classification. We report the case of a 9-year-old female patient with Grisel's syndrome after otoplasty. The diagnosis was confirmed by CT scan. Manual reposition was performed under general anaesthesia, followed by temporary immobilization with a Minerva orthesis.

  13. Abdominal Compartment Syndrome

    Directory of Open Access Journals (Sweden)

    Pınar Zeyneloğlu


    Full Text Available Intraabdominal hypertension and Abdominal compartment syndrome are causes of morbidity and mortality in critical care patients. Timely diagnosis and treatment may improve organ functions. Intra-abdominal pressure monitoring is vital during evaluation of the patients and in the management algorithms. The incidence, definition and risk factors, clinical presentation, diagnosis and management of intraabdominal hypertension and Abdominal compartment syndrome were reviewed here.

  14. Pediatric Toxic Shock Syndrome


    Yee, Jennifer; King, Andrew


    Audience: This scenario was developed to educate emergency medicine residents on the diagnosis and management of a pediatric patient with toxic shock syndrome. The case is also appropriate for teaching of medical students and advanced practice providers, as well as a review of the principles of crisis resource management, teamwork, and communication. Introduction: Toxic shock syndrome is a low-frequency, high-acuity scenario requiring timely identification and aggressive management....

  15. Popliteal artery entrapment syndrome.

    LENUS (Irish Health Repository)

    O'Leary, D P


    Popliteal artery entrapment syndrome is a rare abnormality of the anatomical relationship between the popliteal artery and adjacent muscles or fibrous bands in the popliteal fossa. The following is a case report of a 19 year old female, in whom popliteal artery entrapment syndrome was diagnosed, and successfully treated surgically. A review of literature is also presented and provides details on how PAES is classified, diagnosed both clinically and radiologically, and treated surgically.

  16. Happy Puppet syndrome


    Sarkar, Priyanka Airen; Shigli, Anand; Patidar, Chetan


    Happy Puppet syndrome is characterised by a partial deficit of paired autosomal chromosome 15. It is a neuro-genetic disorder characterised by intellectual and developmental delay, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling and usually a happy demeanour. It is also called as Angelman syndrome (AS). People with AS are sometimes known as ‘angels’, both because of the syndrome’s name and because of their youthful, happy appearance. A 6.5...

  17. Aging male syndrome


    Valer Donca; Antonia Macarie; Luminiţa Paşca; Elena Buzdugan; Constantin Bodolea; Dan Rădulescu; Sorin Crişan; Laurenţiu Stoicescu; Bogdan Neacşu; Steliana Donca


    Aging Male Syndrome is a medical condition through which men could pass between the ages of 35 and 65, when testosterone levelsin their body decline considerably. Androgen deficiency in the aging male has become a topic of increasing interest and debate throughout theworld. In contrast to female menopause, the process of aging in the male genital system is slow and highly variable between individuals. Thecharacteristic symptoms of Aging Male Syndrome include weakness, depression, fatigue and ...

  18. Shah-Waardenburg syndrome. (United States)

    Mahmoudi, Abdelhalim; Rami, Mohamed; Khattala, Khalid; Elmadi, Aziz; Afifi, My Abderrahmane; Youssef, Bouabdallah


    Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris. Is a very rare congenital disorder with variable clinical expression. This report describes a 4-day-old male newborn with Waardenburg's syndrome associated with aganglionosis of the colon and terminal ileum, and review the relevant literature for draws attention to the causal relationship between these two entities.

  19. Temperament in Velocardiofacial Syndrome (United States)

    Antshel, K. M.; Stallone, K.; AbdulSabur, N.; Shprintzen, R.; Roizen, N.; Higgins, A. M.; Kates, W. R.


    Background: Velocardiofacial syndrome (VCFS) is a microdeletion syndrome caused by a 22q11.2 chromosomal deletion. Methods: In this study, parents reported on their own temperament as well as the temperament of their child. Sixty-seven children with VCFS (mean age = 10.8, SD = 2.8; range 6-15), and age-, race- and gender-ratio matched samples of…

  20. Syndrome in question* (United States)

    Dalapicola, Monique Coelho; Veasey, John Verrinder; Lellis, Rute Facchini


    Ross syndrome is a rare disease characterized by peripheral nervous system dysautonomia with selective degeneration of cholinergic fibers. It is composed by the triad of unilateral or bilateral segmental anhidrosis, deep hyporeflexia and Holmes-Adie's tonic pupil. The presence of compensatory sweating is frequent, usually the symptom that most afflicts patients. The aspects of the syndrome are put to discussion due to the case of a male patient, caucasian, 47 years old, with clinical onset of 25 years. PMID:26982793

  1. Neurocutaneous syndromes; Neurokutane Erkrankungen

    Energy Technology Data Exchange (ETDEWEB)

    Niederstadt, T. [Universitaetsklinikum Muenster (Germany). Inst. fuer Klinische Radiologie; Kurlemann, G. [Muenster Univ. (Germany). Medizinische Fakultaet


    Neurocutaneous Syndromes or phakomatoses are a heterogenous group of congenital diseases. They are characterized by dysplasias of tissues derived from the neuroektoderm. Skin alterations may be helpful in the interpretation of cerebral lesions. Recently, the genetic and pathophysiologic alterations of many phakomatoses have been elucidated. In this paper the radiologic findings and clinical signs of the most common neurocutaneous diseases (Neurofibromatosis 1 and 2, Tuberous Sclerosis Complex and Sturge Weber Syndrome) will be discussed. (orig.)



    Katar, Selahattin; Akdeniz, Sedat; ?zbek, M Nuri; Yarami?, Ahmet


    High potency or/and extended use of topical corticosteroids, particularly in children, may cause suppression of the hypothalamopituitary-adrenal axis. However, iatrogenic Cushing's syndrome in infantile age group is very rare and only a few patients have been reported to date in the literature. Here, we report a case of iatrogenic Cushing's syndrome in a 6-month-old male child whose parents have admitted to the hospital for overweight and skin fragility.

  3. Infantile iatrogenic Cushing's syndrome. (United States)

    Katar, Selahattin; Akdeniz, Sedat; Ozbek, M Nuri; Yaramiş, Ahmet


    High potency or/and extended use of topical corticosteroids, particularly in children, may cause suppression of the hypothalamopituitary-adrenal axis. However, iatrogenic Cushing's syndrome in infantile age group is very rare and only a few patients have been reported to date in the literature. Here, we report a case of iatrogenic Cushing's syndrome in a 6-month-old male child whose parents have admitted to the hospital for overweight and skin fragility.

  4. Asperger Syndrome in children


    Ioannis Koutelekos; Chrysoula Valamoutopoulou


    The Asperger’s Syndrome is reported in the pervasive developmental disorders and was categorized as a separate disorder, initially in the ICD -10 (World Health Organization, 1992) and afterwards in the DSM-IV (American Psychiatric Organization, 1994). The Asperger’s Syndrome is distinguished by a team of symptoms that concern the low output in the social interaction and the communication dexterities, as well as the increased stereotypical behavior in various activities and interests.The aim o...

  5. Horner syndrome: clinical perspectives (United States)

    Kanagalingam, Sivashakthi; Miller, Neil R


    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

  6. Enhanced pain syndromes

    Directory of Open Access Journals (Sweden)

    Evelin Diana Goldenberg Meirelles Mariano da Costa


    Full Text Available Enhanced pain syndromes have their prevalence increased withold age. Fibromyalgia, among them deserves special attention. Itscauses are still unknown. Fibromyalgia syndrome affects mainlyfemales and is characterized by generalized musculoskeletal pain,fatigue, sleep disturbances, diffuse stiffness and other psychic signsand symptoms. Diagnosis is essentially based on the 1990 AmericanCollege of Rheumatology Classifi cative Criteria. In this chapteraspects related to its treatment and prognosis are also discussed.

  7. Juvenile polyposis syndrome


    Hsiao, Yi-Han; Wei, Chin-Hung; Chang, Szu-Wen; Chang, Lung; Fu, Yu-Wei; Lee, Hung-Chang; Liu, Hsuan-Liang; Yeung, Chun-Yan


    Abstract Background: Juvenile polyposis syndrome, a rare disorder in children, is characterized with multiple hamartomatous polyps in alimentary tract. A variety of manifestations include bleeding, intussusception, or polyp prolapse. In this study, we present an 8-month-old male infant of juvenile polyposis syndrome initially presenting with chronic anemia. To the best of our knowledge, this is the youngest case reported in the literature. Methods: We report a rare case of an 8-month-old male...

  8. Understanding Thoracic Outlet Syndrome


    Freischlag, Julie; Orion, Kristine


    The diagnosis of thoracic outlet syndrome was once debated in the world of vascular surgery. Today, it is more understood and surprisingly less infrequent than once thought. Thoracic outlet syndrome (TOS) is composed of three types: neurogenic, venous, and arterial. Each type is in distinction to the others when considering patient presentation and diagnosis. Remarkable advances have been made in surgical approach, physical therapy, and rehabilitation of these patients. Dedicated centers of e...


    Directory of Open Access Journals (Sweden)

    M. Y. Kagan


    Full Text Available Nijmegen breakage syndrome (NBS is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, dysmorphic facial features, combined immunodeficiency and predisposition to malignancies. Due to a founder mutation in the underlying NBN gene (c.657_661del5 the disease is encountered most frequently among Slavic populations. We report on a patient with NBS complicated acute leukemia.

  10. Marfan's syndrome: an overview

    Directory of Open Access Journals (Sweden)

    Shi-Min Yuan

    Full Text Available Marfan's syndrome is an autosomal dominant condition with an estimated prevalence of one in 10,000 to 20,000 individuals. This rare hereditary connective tissue disorder affects many parts of the body. The diagnosis of Marfan's syndrome is established in accordance with a review of the diagnostic criteria, known as the Ghent nosology, through a comprehensive assessment largely based on a combination of major and minor clinical manifestations in various organ systems and the family history. Aortic root dilation and mitral valve prolapse are the main presentations among the cardiovascular malformations of Marfan's syndrome. The pathogenesis of Marfan's syndrome has not been fully elucidated. However, fibrillin-1 gene mutations are believed to exert a dominant negative effect. Therefore, Marfan's syndrome is termed a fibrillinopathy, along with other connective tissue disorders with subtle differences in clinical manifestations. The treatment may include prophylactic β-blockers and angiotensin II-receptor blockers in order to slow down the dilation of the ascending aorta, and prophylactic aortic surgery. Importantly, β-blocker therapy may reduce TGF-β activation, which has been recognized as a contributory factor in Marfan's syndrome. The present article aims to provide an overview of this rare hereditary disorder.

  11. Keratoconus in Costello syndrome. (United States)

    Gripp, Karen W; Demmer, Laurie A


    Keratoconus is a corneal dystrophy with progressive corneal thinning resulting in abnormal corneal shape and astigmatism. Corneal hydrops and rupture can occur and corneal transplant may become necessary. While keratoconus is rare in the general population occurring in about 1/2,000 individuals, it is more common in individuals with intellectual disability and syndromic conditions. Connective tissue abnormalities, most typically brittle cornea syndrome, have frequently been reported in association with keratoconus. Here, we report on bilateral keratoconus with acute hydrops in the left eye of a 24-year-old male with Costello syndrome. The patient was treated medically. After resolution of the hydrops, he had significant visual impairment from the resulting irregular astigmatism and scarring. This is the second report of keratoconus in Costello syndrome, suggesting an increased risk for this corneal dystrophy in individuals with Costello syndrome. Ongoing ophthalmological surveillance may be necessary for adult individuals with Costello syndrome, and apparent vision changes should be evaluated expediently. Copyright © 2012 Wiley Periodicals, Inc.

  12. Pharmacology of Reye syndrome. (United States)

    Pranzatelli, M R; De Vivo, D C


    Reye syndrome, a reversible metabolic encephalopathy and hepatopathy, offers a unique opportunity to investigate the pharmacologic mechanisms by which a toxic-metabolic insult to mitochondria is translated into neurochemical and neurologic dysfunction. Similarity of some clinical and metabolic abnormalities between certain inborn errors of organic acid, ammonia, and carbohydrate metabolism and Reye syndrome suggests a common pathophysiologic mechanism at some level. The primary metabolic aberration in Reye syndrome is unknown. Viral, drug, and toxic precipitants in a conductive host alter glial and neuronal function, possibly by direct toxic effects or by altered transmitter metabolism and signal transduction. These events translate into a rather stereotyped progression of the clinical syndrome. Increased ICP, which is a life-threatening epiphenomenon, is the focus of conventional therapy. Investigational treatments, still in preliminary stages, are aimed at early correction of instigating metabolic abnormalities or correction of their consequences on central neurotransmission. Our fragmentary knowledge of neurotransmitter abnormalities in this disorder, which have suggested disparate interpretations, does not allow a cohesive pharmacologic theory of Reye syndrome. The greatest difficulties in interpretation of possible central mechanisms from existing data, which derive largely from peripheral tissues, is in the differentiation of primary from compensatory changes. The unitarian notion that a single pharmacologic disturbance is the source of the encephalopathy is perhaps too simplistic. It is hoped that future studies of disorders such as Reye syndrome will elucidate the intricate relationships between biochemical pathways and neurotransmitter metabolism.

  13. Sleep overlap syndrome

    Directory of Open Access Journals (Sweden)

    Fariba Rezaeetalab


    Full Text Available Overlap syndrome, which is known as the coexistence of chronic obstructive pulmonary disease (COPD and obstructive sleep apnea (OSA, was first defined by Flenley. Although it can refer to concomitant occurrence of any of the pulmonary diseases and OSA, overlap syndrome is commonly considered as the coexistence of OSA and COPD. This disease has unique adverse health consequences distinct from either condition alone. Given the high prevalence of each solitary disease, overlap syndrome is also likely to be common and clinically relevant. Despite the fact that overlap syndrome has been described in the literature for nearly 30 years, paucity of evaluations and studies limited the discussion on diagnosis, prevalence, pathophysiology, treatment, and outcomes of this disease. This review article addresses these issues by reviewing several recent studies conducted in Iran or other countries. This review suggests that overlap syndrome has worse outcomes than either disease alone. Our findings accentuated the urgent need for further studies on overlap syndrome and all overlaps between OSA and chronic pulmonary disease to provide a deeper insight into diagnosis and non-invasive treatments of this disease.

  14. [A girl with Angelman syndrome]. (United States)

    Cobben, Jan Maarten; van Hal, Arjen; van den Puttelaar-van Hal, Nora; van Dijk, Fleur S


    Angelman syndrome is a genetic syndrome with a prevalence of 1 in 20,000. The combination of behaviour and phenotype makes this syndrome one of the easiest genetic syndromes to recognise. Here we describe the case of Femke, a 3-year-old girl with Angelman syndrome. The phenotype is described from a medical perspective as well from the perspective of the parents. Any physician might encounter a child or adult with a rare syndrome. It is difficult to determine what these kinds of syndrome entail based on tables or numbers alone. Descriptions of individual cases are therefore of utmost importance. Furthermore, it is important to recognise that, despite their possible considerable mental disabilities, people with genetic syndromes are just like any other human and should not be seen as just someone with a syndrome.

  15. Acute radiation syndrome and chronic radiation syndrome. (United States)

    Grammaticos, Philip; Giannoula, Evanthia; Fountos, George P


    Acute radiation syndrome (ARS) or sickness or poisoning or toxicity is induced after a whole body exposure of men to high doses of radiation between 1-12Gy. First symptoms are from the gastrointestinal system, which together with bone marrow are the most sensitive parts of our body. Chronic radiation syndrome (CRS) may be induced by smaller than 1Gy radiation doses or after a mild form of ARS. Prophylaxis and treatment suggestions are described. In cases of ARS, a large part of the exposed population after proper medical care may survive, while without medical care this part of the population will be lost. Prophylaxis may also save another part of the population.

  16. Genetics Home Reference: mosaic variegated aneuploidy syndrome (United States)

    ... they typically have an unusually small head size ( microcephaly ). Another common feature of MVA syndrome is an ... Other Names for This Condition mosaic variegated aneuplody microcephaly syndrome MVA syndrome Warburton-Anyane-Yeboa syndrome Related ...

  17. The Greig cephalopolysyndactyly syndrome

    Directory of Open Access Journals (Sweden)

    Biesecker Leslie G


    Full Text Available Abstract The Greig cephalopolysyndactyly syndrome (GCPS is a pleiotropic, multiple congenital anomaly syndrome. It is rare, but precise estimates of incidence are difficult to determine, as ascertainment is erratic (estimated range 1–9/1,000,000. The primary findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. The polydactyly is most commonly preaxial of the feet and postaxial in the hands, with variable cutaneous syndactyly, but the limb findings vary significantly. Other low frequency findings include central nervous system (CNS anomalies, hernias, and cognitive impairment. GCPS is caused by loss of function mutations in the GLI3 transcription factor gene and is inherited in an autosomal dominant pattern. The disorder is allelic to the Pallister-Hall syndrome and one form of the acrocallosal syndrome. Clinical diagnosis is challenging because the findings of GCPS are relatively non-specific, and no specific and sensitive clinical have been delineated. For this reason, we have proposed a combined clinical-molecular definition for the syndrome. A presumptive diagnosis of GCPS can be made if the patient has the classic triad of preaxial polydactyly with cutaneous syndactyly of at least one limb, hypertelorism, and macrocephaly. Patients with a phenotype consistent with GCPS (but which may not manifest all three attributes listed above and a GLI3 mutation may be diagnosed definitively with GCPS. In addition, persons with a GCPS-consistent phenotype who are related to a definitively diagnosed family member in a pattern consistent with autosomal dominant inheritance may be diagnosed definitively as well. Antenatal molecular diagnosis is technically straightforward to perform. Differential diagnoses include preaxial polydactyly type 4, the GCPS contiguous gene syndrome, acrocallosal syndrome, Gorlin syndrome, Carpenter syndrome, and Teebi syndrome. Treatment of the disorder is symptomatic, with plastic or

  18. [Caplan's syndrome: rarely presenting as syndrome]. (United States)

    Nowak, Albina; Göhner, Katja; Cohen, Clemens D


    A 59-year-old man complained about having dry cough for months and a recent sudden onset of minor hemoptoe, asymmetric arthritis, myalgia as well as lack of appetite. He presented an occupational history of 12-year exposure to an organic dust as uranium miner in German Democratic Republic followed by 21 years as heavy construction worker in Germany and in Switzerland. Laboratory work-up tested positive for microhematuria and anti-neutrophilic cytoplasmic antibodies (ANCA). Chest X-rays and CT scan showed bilaterally scattered nodules. Thoracoscopic wedge resection was performed, histopathological analysis revealed granuloma with central necrotic area containing black coal dust and silica depositions surrounded by histiocytes. The pulmonary opacities on X-ray and the typical histology in the light of significant dust exposure allow the diagnosis of a Caplan's syndrome. The symptoms improved rapidly under steroid therapy. Further investigations revealed a clear renal cell carcinoma as a cause for the persistent microhematuria. Rheumatoid arthritis, pulmonary nodules and history of prolonged dust exposure are classical findings that define Caplan's syndrome. These patients present with different immunological phenomena - in our case ANCA-positivity without vasculitis. Interestingly, the renal cell carcinoma which led to the "pulmorenal" syndrome in our patient is another health problem overrepresented in uranium mine workers.

  19. Autoimmune Basis for Postural Tachycardia Syndrome (United States)


    Postural Orthostatic Tachycardia Syndrome; Postural Tachycardia Syndrome; Tachycardia; Arrhythmias, Cardiac; Autonomic Nervous System Diseases; Orthostatic Intolerance; Cardiovascular Diseases; Primary Dysautonomias

  20. Mobius syndrome redefined: a syndrome of rhombencephalic maldevelopment.

    NARCIS (Netherlands)

    Verzijl, H.T.F.M.; Zwaag, A. van der; Cruysberg, J.R.M.; Padberg, G.W.A.M.


    OBJECTIVE: To investigate the variable clinical picture of Mobius syndrome (MIM no. 157900) and to further understand the pathogenesis of the disorder. METHODS: A standardized questionnaire was submitted to 37 Dutch patients with Mobius syndrome. All underwent standardized neurologic examination

  1. Dysmobility syndrome: current perspectives

    Directory of Open Access Journals (Sweden)

    Hill KD


    Full Text Available Keith D Hill,1 Kaela Farrier,1 Melissa Russell,2 Elissa Burton1 1School of Physiotherapy and Exercise Science, Faculty of Health Sciences, Curtin University, Perth, WA, Australia; 2Department of Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia Background: A new term, dysmobility syndrome, has recently been described as a new approach to identify older people at risk of poor health outcomes. The aim was to undertake a systematic review of the existing research literature on dysmobility syndrome.Method: All articles reporting dysmobility syndrome were identified in a systematic review of Medline (Proquest, CINAHL, PubMed, PsycInfo, EMBASE, and Scopus databases. Key characteristics of identified studies were extracted and summarized.Results: The systematic review identified five papers (three cross-sectional, one case control, and one longitudinal study. No intervention studies were identified. Prevalence of dysmobility syndrome varied between studies (22%–34% in three of the studies. Dysmobility syndrome was shown to be associated with reduced function, increased falls and fractures, and a longitudinal study showed its significant association with mortality.Conclusion: Early research on dysmobility syndrome indicates that it may be a useful classification approach to identify older people at risk of adverse health outcomes and to target for early interventions. Future research needs to standardize the optimal mix of measures and cut points, and investigate whether balance performance may be a more useful factor than history of falls for dysmobility syndrome. Keywords: mobility, elderly, functional decline

  2. Nevoid basal cell carcinoma syndrome (Gorlin syndrome

    Directory of Open Access Journals (Sweden)

    Lo Muzio Lorenzo


    Full Text Available Abstract Nevoid basal cell carcinoma syndrome (NBCCS, also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs, odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies. Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm are most commonly located on the face, back and chest. The number of BBCs varies from a few to several thousand. Recurrent jaw cysts occur in 90% of patients. Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull are frequent. Ocular, genitourinary and cardiovascular disorders may occur. About 5–10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death. NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Clinical diagnosis relies on specific criteria. Gene mutation analysis confirms the diagnosis. Genetic counseling is mandatory. Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells (obtained by amniocentesis or chorionic villus sampling. Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome. Management requires a multidisciplinary approach. Keratocysts are treated by surgical removal. Surgery for BBCs is indicated when the number of lesions is limited; other treatments include laser

  3. Congenital Heart Diseases associated with Identified Syndromes ...

    African Journals Online (AJOL)

    Recognised syndromes were seen in 69(68%) cases. Down syndrome with 54 children contributed 78.3% of those with known syndromes. Other identified syndromes and associations were Marfan's, Noonan's, Edwards, Prune Belly, Apert, Ellis-van creveld syndrome and congenital rubella syndrome. Congenital heart ...

  4. Pre-Menstrual Syndrome in Women with Down Syndrome (United States)

    Mason, Linda; Cunningham, Cliff


    Background: Prevalence of pre-menstrual syndrome (PMS) may be higher in women with Down syndrome due to syndrome specific characteristics in biochemistry, psychopathology and lifestyle. Recognition of PMS may be difficult for women with intellectual disabilities and their carers. Method: A daily diary, used to diagnose PMS with typical women, was…

  5. [Kabuki syndrome, a congenital syndrome with multiple anomalies

    NARCIS (Netherlands)

    Biggelaar, A.M. den; Kuijpers-Jagtman, A.M.; Berge, S.J.; Katsaros, C.


    The characteristics of a 5-years old girl, referred to a multidisciplinary team for cleft lip and palate because of speaking problems, were diagnosed as Kabuki syndrome. The Kabuki syndrome is a congenital syndrome of unknown aetiology, diagnosed based on a combination of clinical findings. It is

  6. Progestogens and Cushing's syndrome.

    LENUS (Irish Health Repository)

    Harte, C


    We report 3 patients where Medroxyprogesterone Acetate (MPA = Provera) and Megestrol Acetate (Megace) in doses used for therapy of breast cancer, caused clinical hypercortisolism and Cushing\\'s syndrome. Studies of the toxicity of Medroxyprogesterone Acetate list the commonest adverse events at 500 mg\\/day as weight gain, water retention, increased blood pressure, tremor, moon face, sweating, muscle cramps, vaginal bleeding and increased appetite. Glucocorticoid-like effects are seen in up to 30% of patients treated for longer than 6 weeks with mostly large doses of the order of 1500 mg\\/day but Cushing\\'s syndrome has been reported in patients taking 400 mg\\/day. Neither the glucocorticoid-like effects or Cushing\\'s syndrome have been previously observed with Megestrol Acetate. In the elderly female population receiving progestogens for neoplastic disease the progestogen itself could be an appreciable cause of morbidity both by causing glucocorticoid-like effects and Cushing\\'s syndrome but also by lack of awareness of the danger of sudden withdrawal of these compounds when the hypothalmic-pituitary-adrenal (HPA) axis is suppressed. The signs and symptoms could be easily overlooked unless appropriate testing for Cushing\\'s syndrome is carried out. While the progestogen may have to be continued indefinitely a dose decrease may be feasible with reduction of morbidity.

  7. Meningioma in Down Syndrome. (United States)

    Yamamoto, Takahiro; Shinojima, Naoki; Todaka, Tatemi; Nishikawa, Shigeyuki; Yano, Shigetoshi; Kuratsu, Jun-ichi


    Down syndrome comprises multiple malformations and is due to trisomy of chromosome 21. There is epidemiologic evidence that individuals with Down syndrome are at decreased risk for solid tumors including brain tumors. It has been suggested that some genes expressed on the extra copy of chromosome 21 act as tumor suppressor genes and contribute to protection against tumorigenesis. We report the first case to our knowledge of a patient with Down syndrome, an 8-year-old boy, with an intracranial meningioma, in which the status of chromosome 21 was examined. The diagnosis was based on histologic examination of the surgically resected tumor. Postoperatively, the patient's neurologic status improved, and there was no tumor regrowth in the next 2 years. Fluorescence in situ hybridization for chromosome 22 confirmed high allele loss involving the neurofibromin 2 gene locus, a finding typical in meningiomas. Fluorescence in situ hybridization also revealed chromosome 21 heterogeneity in tumor cells; not only cells with trisomy 21 but also cells with disomy and monosomy 21 were present. All blood cells from the patient manifested trisomy 21. Deletion of the chromosome 21 allele may be associated with tumorigenesis of meningioma in Down syndrome. This supports the hypothesis that some genes whose expression is increased on the extra copy of chromosome 21 function as tumor suppressor genes and that they contribute to the reduced tumor incidence in individuals with Down syndrome. Copyright © 2015 Elsevier Inc. All rights reserved.

  8. Hyperventilation and exhaustion syndrome. (United States)

    Ristiniemi, Heli; Perski, Aleksander; Lyskov, Eugene; Emtner, Margareta


    Chronic stress is among the most common diagnoses in Sweden, most commonly in the form of exhaustion syndrome (ICD-10 classification - F43.8). The majority of patients with this syndrome also have disturbed breathing (hyperventilation). The aim of this study was to investigate the association between hyperventilation and exhaustion syndrome. Thirty patients with exhaustion syndrome and 14 healthy subjects were evaluated with the Nijmegen Symptom Questionnaire (NQ). The participants completed questionnaires about exhaustion, mental state, sleep disturbance, pain and quality of life. The evaluation was repeated 4 weeks later, after half of the patients and healthy subjects had engaged in a therapy method called 'Grounding', a physical exercise inspired by African dance. The patients reported significantly higher levels of hyperventilation as compared to the healthy subjects. All patients' average score on NQ was 26.57 ± 10.98, while that of the healthy subjects was 15.14 ± 7.89 (t = -3.48, df = 42, p exhaustion (Karolinska Exhaustion Scale KES r = 0.772, p exhaustion scores and scores of depression and anxiety. The conclusion is that hyperventilation is common in exhaustion syndrome patients and that it can be reduced by systematic physical therapy such as Grounding. © 2013 The Authors. Scandinavian Journal of Caring Sciences published by John Wiley & Sons Ltd on behalf of Nordic College of Caring Science.

  9. Facet joint syndrome

    International Nuclear Information System (INIS)

    Zigrai, M.; Zakovic, J.; Brezinova, M.; Pavlovicova, M.


    It is the purpose of the study to demonstrate the clinical relevance of degenerative changes in the facet joint of patients with low back pain irradiating to the lower extremities, and discuss some problems relating to diagnosis and different diagnosis. 119 patients presenting the listed bellow syndromes are covered by the study: scoliosis, polytopic pain vertebral syndrome, paresis and history of trauma. all patients undergo comprehensive neurological examination with special attention focused on the spine: CT and plain x-rays are taken of the lumbosacral segment to assess the condition of the facet joints. The neurological examination demonstrates in all cases pain syndrome in the lumbar spine referred to one or both lower extremities. In 56% it is a matter of persisting pain, and in 44% - recurrent. More than half of the patients complain of sacroiliac (SI) dislocation and palpatory pain. Unilateral or bilateral degenerative changes are documented by imaging studies in all patients, including: subchondral thickening, osteopathy narrowing the lateral or central part of the spinal canal with ensuing nerve root compression. The lumbosacral zygoapophyseal joints are source of pseudoradicular pain. A correlation between clinical picture and GT changes is noted in all patients with facet joint syndrome. CT is an indispensable method in diagnosing facet joint syndrome. (authors)

  10. Congenital nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Claudia Fanni


    Full Text Available CNS (Congenital nephrotic syndrome is a disorder characterized by the presence of a nephrotic syndrome in the first three months of life. Different pathologies can cause this syndrome. In general, we can distinguish primary forms (sporadic and hereditary and secondary forms (acquired and associated with other syndromes. The most common form is the Finnish CNS (CNF, congenital nephrotic syndrome of the Finnish type, a hereditary form whose name derives from the fact that the highest incidence is described in that country (1.2:10,000. The pathogenesis, the clinical picture, the diagnostic criteria, the therapy and the outcome are described in details.  Proceedings of the International Course on Perinatal Pathology (part of the 10th International Workshop on Neonatology · October 22nd-25th, 2014 · Cagliari (Italy · October 25th, 2014 · The role of the clinical pathological dialogue in problem solving Guest Editors: Gavino Faa, Vassilios Fanos, Peter Van Eyken

  11. Thoracic outlet syndrome. (United States)

    Kuhn, John E; Lebus V, George F; Bible, Jesse E


    Thoracic outlet syndrome is a well-described disorder caused by thoracic outlet compression of the brachial plexus and/or the subclavian vessels. Neurogenic thoracic outlet syndrome is the most common manifestation, presenting with pain, numbness, tingling, weakness, and vasomotor changes of the upper extremity. Vascular complications of thoracic outlet syndrome are uncommon and include thromboembolic phenomena and swelling. The clinical presentation is highly variable, and no reproducible study exists to confirm the diagnosis; instead, the diagnosis is based on a physician's judgment after a meticulous history and physical examination. Both nonsurgical and surgical treatment methods are available for thoracic outlet syndrome. Whereas nonsurgical management appears to be effective in some persons, surgical treatment has been shown to provide predictable long-term cure rates for carefully selected patients. In addition, physicians who do not regularly treat patients with thoracic outlet syndrome may not have an accurate view of this disorder, its treatment, or the possible success rate of treatment. Copyright 2015 by the American Academy of Orthopaedic Surgeons.

  12. Alport's Syndrome in Pregnancy

    Directory of Open Access Journals (Sweden)

    Suchita Mehta


    Full Text Available Background. Alport's syndrome is an X-linked hereditary disorder affecting the glomerular basement membrane associated with ocular and hearing defects. In women, the disease is much less severe compared to that in men. However, women with Alport's syndrome can have an accelerated form of their disease during pregnancy with worsening of kidney function and can also develop preeclampsia. There are only four described cases of Alport's syndrome in pregnancy. Case Presentation. 20-year-old woman with a history of Alport's syndrome, which during pregnancy worsened resulting in hypertension, proteinuria, and acute kidney injury. Fortunately, there was complete resolution of the proteinuria and kidney injury with delivery, and the patient did not require any renal replacement therapy. Conclusion. One of the four reported cases had an accelerated form of the disease during pregnancy with rapid progression of kidney injury and end-stage renal disease. There are no definite guidelines to monitor these patients during pregnancy. Further studies are required to understand the exact pathophysiology of kidney damage that occurs in pregnant women with Alport's syndrome. This may give us some insight into the prognostic predictors, so that we can monitor these women more thoroughly and prevent adverse outcomes.

  13. Aicardi-Goutieres Syndrome Disorder (United States)

    ... and usually results in severe mental and physical handicap. There are two forms of the syndrome: an ... and usually results in severe mental and physical handicap. There are two forms of the syndrome: an ...

  14. Guillain-Barré Syndrome (United States)

    ... can lessen the immune attack on the nervous system. The most critical part of the treatment for this syndrome ... can lessen the immune attack on the nervous system. The most critical part of the treatment for this syndrome ...

  15. Middle East Respiratory Syndrome (MERS) (United States)

    Middle East Respiratory Syndrome Coronavirus; MERS-CoV; Novel coronavirus; nCoV ... Centers for Disease Control and Prevention. Middle East Respiratory Syndrome (MERS): Frequently Asked Questions and Answers. Updated ...

  16. Genetics Home Reference: Bloom syndrome (United States)

    ... 1 link) Bloom syndrome Sources for This Page Amor-Guéret M. Bloom syndrome, genomic instability and cancer: ... Zhang B, Zhang XD, Dou SX, Wang PY, Amor-Gueret M, Xi XG. Structural and functional analyses ...

  17. Genetics Home Reference: Kuskokwim syndrome (United States)

    ... region of southwest Alaska known as the Kuskokwim River Delta. In Kuskokwim syndrome , contractures most commonly affect ... syndrome 1 General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery ...

  18. Klinefelter Syndrome (KS): Condition Information (United States)

    ... Condition Information Share Facebook Twitter Pinterest Email Print Klinefelter Syndrome (KS): Condition Information What is KS? The term " ... such as XXYY. This is called poly-X Klinefelter syndrome, and it causes more severe symptoms. 1 Klinefelter, ...

  19. Genetics Home Reference: CHARGE syndrome (United States)

    ... combination of major and minor characteristics. The major characteristics of CHARGE syndrome are common in this disorder and occur less ... and unusually shaped external ears. While the minor characteristics of CHARGE syndrome are common in this disorder, they are also ...

  20. Genetics Home Reference: Pendred syndrome (United States)

    ... aqueduct (EVA) is a characteristic feature of Pendred syndrome . The vestibular aqueduct is a bony canal that connects the ... of Philadelphia, Center for Childhood Communication GeneReview: Pendred Syndrome/Nonsyndromic Enlarged Vestibular ... Encyclopedia: Hearing Loss ...

  1. Latah : An indonesian startle syndrome

    NARCIS (Netherlands)

    Bakker, Mirte J.; van Dijk, J. Gert; Pramono, Astuti; Sutarni, Sri; Tijssen, Marina A. J.

    The nature of culture-specific startles syndromes such as Latah in Indonesia and Malaysia is ill understood. Hypotheses concerning their origin include sociocultural behavior, psychiatric disorders, and neurological syndromes. The various disorders show striking similarities despite occurring in

  2. Genetics Home Reference: Donohue syndrome (United States)

    ... Genetic Testing Registry: Leprechaunism syndrome Other Diagnosis and Management Resources (1 link) GeneReview: INSR-Related Severe Syndromic Insulin Resistance General Information from MedlinePlus (5 links) Diagnostic Tests ...

  3. Prognosis of Cyclic Vomiting Syndrome

    Directory of Open Access Journals (Sweden)

    J. Gordon Millichap


    Full Text Available Investigators from Teikyo University School of Medicine, Tokyo, Japan, evaluated the clinical features, prognosis, and prophylaxis of cyclic vomiting syndrome and the relationship between the syndrome and levels of adrenocorticotropic/antidiuretic hormones (ACTH/ADH.

  4. Klippel-Trenaunay Syndrome (KTS) (United States)

    ... Definition Klippel-Trenaunay syndrome (KTS) is a rare congenital malformation involving blood and lymph vessels and abnormal growth ... Definition Klippel-Trenaunay syndrome (KTS) is a rare congenital malformation involving blood and lymph vessels and abnormal growth ...

  5. Genetics Home Reference: RAPADILINO syndrome (United States)

    ... navigation Home Page Search Home Health Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Share: Email ... Rapadilino syndrome Hospital for Sick Children: Radial Ray Anomaly MalaCards: rapadilino syndrome March of Dimes: Cleft Lip ...


    Directory of Open Access Journals (Sweden)

    Diana Baptista


    Conclusion: Identification of adolescents at risk for Polycystic Ovary Syndrome is critical, not only for an appropriate therapeutic approach, but also to prevent co-morbidities associated with the syndrome, including obesity, insulin resistance, dyslipidemia and infertility.

  7. Latah: an Indonesian startle syndrome

    NARCIS (Netherlands)

    Bakker, Mirte J.; van Dijk, J. Gert; Pramono, Astuti; Sutarni, Sri; Tijssen, Marina A. J.


    The nature of culture-specific startles syndromes such as "Latah" in Indonesia and Malaysia is ill understood. Hypotheses concerning their origin include sociocultural behavior, psychiatric disorders, and neurological syndromes. The various disorders show striking similarities despite occurring in

  8. Fragile X Syndrome: Other FAQs (United States)

    ... Other FAQs Share Facebook Twitter Pinterest Email Print Fragile X Syndrome: Other FAQs Basic information for topics, such ... Are there specific disorders or conditions associated with Fragile X syndrome? Among the other conditions associated with Fragile ...

  9. Severe acute respiratory syndrome (SARS) (United States)

    ... their fever and other symptoms are gone. Hand hygiene is the most important part of SARS prevention. ... Coronaviruses, including severe acute respiratory syndrome (SARS) and Middle East respiratory syndrome (MERS). In: Bennett JE, Dolin ...

  10. [Maxillofacial and dental abnormalities in some multiple abnormality syndromes. "Cri du chat" syndrome, Wilms' tumor-aniridia syndrome; Sotos syndrome; Goldenhar syndrome]. (United States)

    Berio, A; Trucchi, R; Meliota, M


    The paper describes the maxillo-facial and dental anomalies observed in some chromosome and non-chromosome poly-malformative syndromes ("Cri du chat" syndrome; Wilms' tumour; Sotos' syndrome; Goldenhar's syndrome). The Authors emphasise the possibility of diagnosing these multiple deformity syndromes from maxillo-facial alterations in early infancy; anomalous tooth position and structure cal also be successfully treated immediately after the first appearance of teeth. This is a particularly promising field of pediatrics and preventive pediatric medicine.

  11. Metabolic Syndrome, Androgens, and Hypertension


    Moulana, Mohadetheh; Lima, Roberta; Reckelhoff, Jane F.


    Obesity is one of the constellation of factors that make up the definition of the metabolic syndrome. Metabolic syndrome is also associated with insulin resistance, dyslipidemia, hypertriglyceridemia, and type 2 diabetes mellitus. The presence of obesity and metabolic syndrome in men and women is also associated with increased risk of cardiovascular disease and hypertension. In men, obesity and metabolic syndrome are associated with reductions in testosterone levels. In women, obesity and met...

  12. Hypertension og det metaboliske syndrom

    DEFF Research Database (Denmark)

    Olsen, Michael Hecht; Jeppesen, Jørgen; Larsen, Mogens Lytken


    The metabolic syndrome is a relatively prevalent condition characterized by co-existence of several metabolic and cardiovascular risk factors including hypertension. Patients with hypertension have an increased risk of developing the metabolic syndrome which, in turn, increases the cardiovascular...... syndrome is of clinical importance as it makes the treating physician test for other elements of the syndrome in patients with one of the elements, e.g. hypertension. Udgivelsesdato: 2009-Jun-15...

  13. Hypertension og det metaboliske syndrom

    DEFF Research Database (Denmark)

    Olsen, Michael Hecht; Jeppesen, Jørgen; Larsen, Mogens Lytken


    The metabolic syndrome is a relatively prevalent condition characterized by co-existence of several metabolic and cardiovascular risk factors including hypertension. Patients with hypertension have an increased risk of developing the metabolic syndrome which, in turn, increases the cardiovascular...... syndrome is of clinical importance as it makes the treating physician test for other elements of the syndrome in patients with one of the elements, e.g. hypertension. Udgivelsesdato: 2009-Jun...

  14. Brachman de lange syndrome

    Directory of Open Access Journals (Sweden)

    Leena Verma


    Full Text Available Brachman de Lange syndrome or Cornelia de Lange syndrome (CdLS is a genetic disorder which can lead to severe developmental anomalies. It affects both the physical and intellectual development of a child. It is characterized by skeletal, craniofacial deformities, gastrointestinal and cardiac malformations. This syndrome is of rare occurrence and affects between 1/10,000 and 1/60,000 neonates. Diagnosis is based on the characteristic phenotype, in particular, a striking facial appearance, prenatal and postnatal growth retardation, various skeletal abnormalities, hypertrichosis, and developmental delay. Here, we present the case of a 13-year-old patient, with micrognathia, delayed eruption, multiple carious teeth, missing teeth and periodontal problems together, which had never been reported before. The father was also found to have the same missing teeth as the girl child.

  15. Monogenic diabetes syndromes

    DEFF Research Database (Denmark)

    Astuti, Dewi; Sabir, Ataf; Fulton, Piers


    We developed a variant database for diabetes syndrome genes, using the Leiden Open Variation Database platform, containing observed phenotypes matched to the genetic variations. We populated it with 628 published disease-associated variants (December 2016) for: WFS1 (n = 309), CISD2 (n = 3), ALMS1...... for the WFS1 gene. The presence of biallelic loss-of-function variants predicted Wolfram syndrome defined by insulin-dependent diabetes and optic atrophy, with a sensitivity of 79% (95% CI 75%-83%) and specificity of 92% (83%-97%). The presence of minor loss-of-function variants in WFS1 predicted isolated...... diabetes, isolated deafness, or isolated congenital cataracts without development of the full syndrome (sensitivity 100% [93%-100%]; specificity 78% [73%-82%]). The ability to provide a prognostic prediction based on genotype will lead to improvements in patient care and counseling. The development...

  16. Restless legs syndrome. (United States)

    Venkateshiah, Saiprakash B; Ioachimescu, Octavian C


    Restless legs syndrome is a common sensorimotor disorder characterized by an urge to move, and associated with uncomfortable sensations in the legs (limbs). Restless legs syndrome can lead to sleep-onset or sleep-maintenance insomnia, and occasionally excessive daytime sleepiness, all leading to significant morbidity. Brain iron deficiency and dopaminergic neurotransmission abnormalities play a central role in the pathogenesis of this disorder, along with other nondopaminergic systems, although the exact mechanisms are still. Intensive care unit patients are especially vulnerable to have unmasking or exacerbation of restless legs syndrome because of sleep deprivation, circadian rhythm disturbance, immobilization, iron deficiency, and use of multiple medications that can antagonize dopamine. Published by Elsevier Inc.

  17. Chronic intestinal pseudoobstruction syndrome

    International Nuclear Information System (INIS)

    Yeon, Kyung Mo; Seo, Jeong Kee; Lee, Yong Seok


    Chronic intestinal pseudoobstruction syndrome is a rare clinical condition in which impaired intestinal peristalsis causes recurrent symptoms of bowel obstruction in the absence of a mechanical occlusion. This syndrome may involve variable segments of small or large bowel, and may be associated with urinary bladder retention. This study included 6 children(3 boys and 3 girls) of chronic intestinal obstruction. Four were symptomatic at birth and two were of the ages of one month and one year. All had abdominal distension and deflection difficulty. Five had urinary bladder distension. Despite parenteral nutrition and surgical intervention(ileostomy or colostomy), bowel obstruction persisted and four patients expired from sepses within one year. All had gaseous distension of small and large bowel on abdominal films. In small bowel series, consistent findings were variable degree of dilatation, decreased peristalsis(prolonged transit time) and microcolon or microrectum. This disease entity must be differentiated from congenital megacolon, ileal atresia and megacystis syndrome

  18. Case report: waardenburg syndrome. (United States)

    Dumayas, Grace Lea; Capó-Aponte, José E


    A case of Waardenburg syndrome type 1 is described and relevant literature is reviewed to raise awareness about this rare syndrome, including the classification of each subtype and the differentiating clinical manifestations. A 44-year-old African-American female presented for a routine evaluation with hearing loss, dystopia canthorum (W index = 2.74), and almost complete gray hair. In addition, she presented with heterochromia irides, different fundus pigmentation between eyes. The patient did not have any upper limbs defect, cranial skeletal abnormalities, or intestinal disorders. Facial abnormalities and a white forelock are prominent features difficult to overlook during a routine ophthalmological examination. A careful medical history in patients with suspected Waardenburg syndrome is important to accurately classify this rare condition and to identify potential systemic implications associated to each subtype. The associated systemic complications can be addressed and managed through referral to the appropriate subspecialties. Reprint & Copyright © 2015 Association of Military Surgeons of the U.S.

  19. Sturge Weber Syndrome

    Directory of Open Access Journals (Sweden)

    Kazi Nilufar Moly


    Full Text Available Sturge weber syndrome is a rare sporadic condition of mesodermal phacomatosis, also called encephalotrigeminal angio­matosis (synonyms : fourth phacomatosis or mother spot, is a neurocutaneous disorder with angiomas that involve the leptomeninges (leptomeningeal angiomas and the skin of the face (purple colored flat cutaneous haemangiomas , typically in the ophthalmic (V1 and maxillary (V2 distributions of the trigeminal nerve. The hallmark of sturge weber syndrome is a facial cutaneous venous dilation, also referred to as a nevus flammeus or port wine stain (PWS. Because of the rarity, we report here a one & half year old male child who presented with features of the Sturge Weber Syndrome on both side of face.

  20. Vitreolensectomy in Marfan's syndrome. (United States)

    Hubbard, A D; Charteris, D G; Cooling, R J


    To evaluate the effectiveness of pars plana vitreolensectomy in the management of subluxed lenses associated with Marfan's syndrome and to assess the need for intraoperative retinal photocoagulation to prevent post-operative retinal detachment. A retrospective review was carried out of 40 eyes of patients with Marfan's syndrome who underwent pars plana vitreolensectomy for subluxed lenses. All patients demonstrated stable or improved visual acuity following surgery with a low incidence of complications. Pars plana vitreolensectomy is a safe and effective treatment for subluxed lenses in patients with Marfan's syndrome. It appears that intraoperative prophylactic laser treatment need only be applied to areas of lattice degeneration to limit the incidence of post-operative retinal detachment.

  1. "Puffy hand syndrome". (United States)

    Chouk, Mickaël; Vidon, Claire; Deveza, Elise; Verhoeven, Frank; Pelletier, Fabien; Prati, Clément; Wendling, Daniel


    Intravenous drug addiction is responsible for many complications, especially cutaneous and infectious. There is a syndrome, rarely observed in rheumatology, resulting in "puffy hands": the puffy hand syndrome. We report two cases of this condition from our rheumatologic consultation. Our two patients had intravenous drug addiction. They presented with an edema of the hands, bilateral, painless, no pitting, occurring in one of our patient during heroin intoxication, and in the other 2 years after stopping injections. In our two patients, additional investigations (biological, radiological, ultrasound) were unremarkable, which helped us, in the context, to put the diagnosis of puffy hand syndrome. The pathophysiology, still unclear, is based in part on a lymphatic toxicity of drugs and their excipients. There is no etiological treatment but elastic compression by night has improved edema of the hands in one of our patients. Copyright © 2016 Société française de rhumatologie. Published by Elsevier SAS. All rights reserved.

  2. The sexual aversion syndrome. (United States)

    Crenshaw, T L


    Sexual aversion is a widespread, poorly recognized syndrome occurring in both males and females. Once diagnosed, it is relatively resistant to conventional forms of therapy. Aversion is characterized by an unwillingness to get involved in sexual activity, with avoidance of any touching or communication that might lead to sexual involvement. This syndrome usually presents as a lack of libido, low sex drive, inhibited sexual desire or arousal dysfunction. Aversion may be seen along with other sexual dysfunctions, as a precipitating cause or as a consequence. However, aversion can also be the only dysfunction present. Once aversion is correctly diagnosed, identifying the type of aversion present is a prerequisite to appropriate therapy. Primary and secondary aversion are treated differently and have a different prognosis. This article describes the Sexual Aversion Syndrome, and distinguishes between primary and secondary aversion for the purpose of treatment and prognosis.

  3. Wolfram Syndrome. Case report. (United States)

    Tarała, Wojciech; Drachal, Elzbieta; Mazur, Artur; Korczowski, Bartosz; Szadkowska, Agnieszka; Zmysłowska, Agnieszka; Młynarski, Wojciech


    Wolfram syndrome is a rare neurodegenerative and genetic disorder, characterized by insulin-dependent diabetes mellitus, caused by non-autoimmune loss of β cells, as well as optic atrophy; the disease is also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Patients that demonstrate diabetes mellitus are also affected by: optic atrophy in the first decade of their life, diabetes insipidus and sensorineural deafness in the second decade, and urinary tract and neurological abnormalities in the third decade of their life. Patients with Wolfram syndrome usually die due to central respiratory failures caused by brain stem atrophy in their third or at the beginning of their fourth decade of life. The authors present a case of two female siblings with diagnosed Wolfram syndrome that have been diagnosed with diabetes mellitus, optic atrophy, and urological abnormalities. Early diagnosis and adequate hormonal supplementation can improve their quality of life. © Polish Society for Pediatric Endocrinology and Diabetology.

  4. Anaesthesia for prune belly syndrome

    African Journals Online (AJOL)


    SYNDROMIC VIGNETTES IN ANAESTHESIA. Southern African Journal of Anaesthesia & Analgesia - May 2004. 10. Anaesthesia for prune belly syndrome. Synopsis of patient: An 18month old, 12.8kg male presented for laparotomy. He is a known 'prune belly' syndrome and had undescended testes. The purpose of the ...

  5. The Ehlers-Danlos Syndrome

    African Journals Online (AJOL)


    Apr 13, 1974 ... male with combined Ehlers-Danlos and Marfan's syndrome was published in this Journal." The clinical features of this individual were suggestive of the Marfanoid hyper- mobility syndrome, an entity considered by McKusick' to be distinct from the true Ehlers-Danlos syndrome. REFERENCES. L McKusick ...

  6. A Journey with Klinefelter Syndrome (United States)

    Cover, Virginia Isaacs


    In this article, the author shares her experience having a son with Klinefelter Syndrome. Klinefelter Syndrome, also known as 47,XXY, is estimated to occur in 1 out of 600 males, making it the most common chromosomal disorder. Babies with Klinefelter Syndrome rarely have any physical differences that are detectable, which is the reason that so few…

  7. Klinefelter Syndrome With Leg Ulcers

    Directory of Open Access Journals (Sweden)

    Narendra G


    Full Text Available Leg ulcers are frequently caused by venous insufficiency, arterial insufficiency, neuropathy, or a combination of these factors. Klinefelter syndrome in association with chronic leg ulcers have been reported earlier. We report a case of Klinefelter syndrome with non- healing ulcer. The diagnosis of the Klinefelter syndrome was confirmed by karyotyping.

  8. Apert Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Masoud Gharib


    Full Text Available Apert syndrome is a genetic defect which was first described by Eugene Apert in 1906. it's incidence is approximately one in 50000 births. This syndrome is many abnormalities in your body and Central Nervous System. rehabilitation can increase children and their parent's quality of life.We report a case of Apert syndrome and his occupational therapy program.

  9. Hepatopulmonary syndrome: a case report

    NARCIS (Netherlands)

    Huurnink, Arnold


    Huurnink A, Van den Berg CHSB, Booij J. Hepatopulmonary syndrome: a case report. Hepatopulmonary syndrome is characterised by a lowered oxygenation caused by intrapulmonary vascular dilatation in the setting of a liver disease. We present a case of a 42-year old woman with a Budd-Chiari syndrome,

  10. Urinary Peptides in Rett Syndrome. (United States)

    Solaas, K. M.; Skjeldal, O.; Gardner, M. L. G.; Kase, B. F.; Reichelt, K. L.


    A study found a significantly higher level of peptides in the urine of 53 girls with Rett syndrome compared with controls. The elevation was similar to that in 35 girls with infantile autism. Levels of peptides were lower in girls with classic Rett syndrome than those with congenital Rett syndrome. (Contains references.) (Author/CR)

  11. Genetics Home Reference: Griscelli syndrome (United States)

    ... Tezcan I, Ersoy F, Houdusse A, Fischer A, de Saint Basile G. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect ( ... N, Bianchi D, Fischer A, Le Deist F, de Saint Basile G. Mutations in RAB27A ... syndrome associated with haemophagocytic syndrome. Nat Genet. 2000 Jun; ...

  12. Down syndrome: a cardiovascular perspective

    NARCIS (Netherlands)

    Vis, J. C.; Duffels, M. G. J.; Winter, M. M.; Weijerman, M. E.; Cobben, J. M.; Huisman, S. A.; Mulder, B. J. M.


    This review focuses on the heart and vascular system in patients with Down syndrome. A clear knowledge on the wide spectrum of various abnormalities associated with this syndrome is essential for skilful management of cardiac problems in patients with Down syndrome. Epidemiology of congenital heart

  13. Down Syndrome: A Cardiovascular Perspective (United States)

    Vis, J. C.; Duffels, M. G. J.; Winter, M. M.; Weijerman, M. E.; Cobben, J. M.; Huisman, S. A.; Mulder, B. J. M.


    This review focuses on the heart and vascular system in patients with Down syndrome. A clear knowledge on the wide spectrum of various abnormalities associated with this syndrome is essential for skillful management of cardiac problems in patients with Down syndrome. Epidemiology of congenital heart defects, cardiovascular aspects and…

  14. Marfan syndrome: current perspectives. (United States)

    Pepe, Guglielmina; Giusti, Betti; Sticchi, Elena; Abbate, Rosanna; Gensini, Gian Franco; Nistri, Stefano


    Marfan syndrome (MFS) is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, due to mutations in the FBN1 gene encoding fibrillin 1. It is an important protein of the extracellular matrix that contributes to the final structure of a microfibril. Few cases displaying an autosomal recessive transmission are reported in the world. The FBN1 gene, which is made of 66 exons, is located on chromosome 15q21.1. This review, after an introduction on the clinical manifestations that leads to the diagnosis of MFS, focuses on cardiovascular manifestations, pharmacological and surgical therapies of thoracic aortic aneurysm and/or dissection (TAAD), mechanisms underlying the progression of aneurysm or of acute dissection, and biomarkers associated with progression of TAADs. A Dutch group compared treatment with losartan, an angiotensin II receptor-1 blocker, vs no other additional treatment (COMPARE clinical trial). They observed that losartan reduces the aortic dilatation rate in patients with Marfan syndrome. Later on, they also reported that losartan exerts a beneficial effect on patients with Marfan syndrome carrying an FBN1 mutation that causes haploinsufficiency (quantitative mutation), while it has no significant effect on patients displaying dominant negative (qualitative) mutations. Moreover, a French group in a 3-year trial compared the administration of losartan vs placebo in patients with Marfan syndrome under treatment with beta-receptor blockers. They observed that losartan decreases blood pressure but has no effect on aortic diameter progression. Thus, beta-receptor blockers remain the gold standard therapy in patients with Marfan syndrome. Three potential biochemical markers are mentioned in this review: total homocysteine, serum transforming growth factor beta, and lysyl oxidase. Moreover, markers of oxidative stress measured in plasma, previously correlated with clinical features of Marfan syndrome, may be explored as potential

  15. Marfan syndrome: current perspectives (United States)

    Pepe, Guglielmina; Giusti, Betti; Sticchi, Elena; Abbate, Rosanna; Gensini, Gian Franco; Nistri, Stefano


    Marfan syndrome (MFS) is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, due to mutations in the FBN1 gene encoding fibrillin 1. It is an important protein of the extracellular matrix that contributes to the final structure of a microfibril. Few cases displaying an autosomal recessive transmission are reported in the world. The FBN1 gene, which is made of 66 exons, is located on chromosome 15q21.1. This review, after an introduction on the clinical manifestations that leads to the diagnosis of MFS, focuses on cardiovascular manifestations, pharmacological and surgical therapies of thoracic aortic aneurysm and/or dissection (TAAD), mechanisms underlying the progression of aneurysm or of acute dissection, and biomarkers associated with progression of TAADs. A Dutch group compared treatment with losartan, an angiotensin II receptor-1 blocker, vs no other additional treatment (COMPARE clinical trial). They observed that losartan reduces the aortic dilatation rate in patients with Marfan syndrome. Later on, they also reported that losartan exerts a beneficial effect on patients with Marfan syndrome carrying an FBN1 mutation that causes haploinsufficiency (quantitative mutation), while it has no significant effect on patients displaying dominant negative (qualitative) mutations. Moreover, a French group in a 3-year trial compared the administration of losartan vs placebo in patients with Marfan syndrome under treatment with beta-receptor blockers. They observed that losartan decreases blood pressure but has no effect on aortic diameter progression. Thus, beta-receptor blockers remain the gold standard therapy in patients with Marfan syndrome. Three potential biochemical markers are mentioned in this review: total homocysteine, serum transforming growth factor beta, and lysyl oxidase. Moreover, markers of oxidative stress measured in plasma, previously correlated with clinical features of Marfan syndrome, may be explored as potential

  16. Noonan syndrome and chylothorax

    International Nuclear Information System (INIS)

    Martinez-Leon, M. I.; Ceres-Ruiz, L.; Solbes-Vila, R.; Valls-Moreno, E.


    Chylothorax during childhood usually develops as a result of posto-perative complications following cardiothoracic surgery. It is rarely due to the malformations of the lymphatic system associated with dysmorphic syndrome. We report two cases of Noonan syndrome involving neonatal development of chylothorax. In children with the Noonan phenotype who develop pleural effusion during the neonatal period in the absence of obstetric trauma, it is advisable to rule out the presence of congenital lymphatic malformation and study the pleural effusion, initially introducing conservative treatment with dietary therapy. Chest radiography, ultrasound and computed tomography reveal the presence of the pleural effusion and parenchymal pattern compatible with chloroethoxy and lymphangiectasis. (Author) 15 refs

  17. Treacher Collins Syndrome

    Directory of Open Access Journals (Sweden)



    Full Text Available Treacher Collins syndrome is a rare autosomal dominant condition, predominantly affecting the orofacial structures. The incidence varies between 1 in 40,000 to 1 in 70,000 per live births. 40% of the cases have a hereditary factor while 60% are due to genetic mutations. The features include antimongloid slanting of the eyes, deformed or underdeveloped pinna of the ear, retrognathic mandible, microgenia, hypoplasia of the facial bones. In some patients the retrognathic mandible may cause difficulty in breathing and swallowing and may require surgical interventions. The present article describes the clinical features of Treacher Collins syndrome as seen in 3 cases.

  18. Ehlers-Danlos' syndrom

    DEFF Research Database (Denmark)

    Leganger, Julie; Søborg, Marie-Louise Kulas; Farholt, Stense


    Ehlers-Danlos syndrome Ehlers-Danlos syndrome (EDS) comprises a group of diseases characterized by connective tissue fragility. The clinical symptoms primarily involve the skin, joints, blood vessels and internal organs. Diagnosing EDS is complicated because of the clinical variability, imprecise...... diagnostic criteria, and because physicians may lack knowledge of this rare disease. The aim of this article is to provide an overview of the clinical symptoms and to provide recommendations on diagnosis and treatment. Referring patients to one of the national centres for rare diseases is important....

  19. Second Impact Syndrome. (United States)

    Cantu, Robert C; Voy, Robert


    In brief The known risk of second impact syndrome (SIS) in football has elevated the importance of postconcussion and precompetition exams of injured football players. Six case reports demonstrate that the same mechanism of injury-minor head trauma in a player who still has symptoms from a previous concussion-can cause second impact syndrome in any contact sport. It is important to monitor postconcussion symptoms, which include headache, light-headedness, and impaired consciousness. Return-to-play guidelines for football and boxing provide a basis for making safe activity recommendations for other sports.

  20. [Pearson syndrome. Case report]. (United States)

    Cammarata-Scalisi, Francisco; López-Gallardo, Ester; Emperador, Sonia; Ruiz-Pesini, Eduardo; Da Silva, Gloria; Camacho, Nolis; Montoya, Julio


    Among the etiologies of anemia in the infancy, the mitochondrial cytopathies are infrequent. Pearson syndrome is diagnosed principally during the initial stages of life and it is characterized by refractory sideroblastic anemia with vacuolization of marrow progenitor cells, exocrine pancreatic dysfunction and variable neurologic, hepatic, renal and endocrine failures. We report the case of a 14 month-old girl evaluated by a multicentric study, with clinic and molecular diagnosis of Pearson syndrome, with the 4,977-base pair common deletion of mitochondrial DNA. This entity has been associated to diverse phenotypes within the broad clinical spectrum of mitochondrial disease.