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Sample records for canal syndrome due

  1. Guyon's canal syndrome due to tortuous ulnar artery with DeQuervain stenosing tenosynovitis, ligamentous injuries and dorsal intercalated segmental instability syndrome, a rare presentation: a case report

    OpenAIRE

    Zeeshan, Muhammad; Ahmed, Farhan; Kanwal, Darakhshan; Khalid, Qazi Saad Bin; Ahmed, Muhammad Nadeem

    2009-01-01

    The Guyon's canal syndrome is a well known clinical entity and may have significant impact on patient's quality of life. We report a case of 43-year-old male who presented with complaints of pain and numbness in right hand and difficulty in writing for past one month. On imaging diagnosis of Guyon's canal syndrome because of tortuous ulnar artery was made with additional findings of DeQuervain's stenosing tenosynovitis and dorsal intercalated segmental instability syndrome with ligamentous in...

  2. Delayed diagnosis of Herlyn-Werner-Wunderlich syndrome due to microperforation and pyocolpos in obstructed vaginal canal.

    Science.gov (United States)

    Wozniakowska, Ewa; Torres, Anna; Milart, Pawel; Wozniak, Slawomir; Czuczwar, Piotr; Szkodziak, Piotr; Paszkowski, Tomasz

    2014-08-01

    To present a rare anomaly consisting of uterus didelphys, longitudinal vaginal septum, obstructed hemivagina with pyocolpos, fistula to the open vaginal canal, and ipsilateral renal agenesis, referred as Herlyn-Werner-Wunderlich syndrome (HWWS). A 14-year-old girl with recurring purulent vaginal discharge lasting for a few months. Preoperative examination revealed one vaginal canal with one cervical opening on the right side. There was a fistula leading from the obstructed vaginal canal to the left vagina. Intravaginal ultrasound examination demonstrated a longitudinal vaginal septum and a closed pyocolpos on the right side. The longitudinal vaginal septum was excised by way of electrocauterization under direct vision. HWWS should be considered in the differential diagnosis in patients with uterus didelphys and unusual symptoms such as pyocolpos and vaginal discharge. Copyright © 2014 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  3. Guyon's canal syndrome due to tortuous ulnar artery with DeQuervain stenosing tenosynovitis, ligamentous injuries and dorsal intercalated segmental instability syndrome, a rare presentation: a case report.

    Science.gov (United States)

    Zeeshan, Muhammad; Ahmed, Farhan; Kanwal, Darakhshan; Khalid, Qazi Saad Bin; Ahmed, Muhammad Nadeem

    2009-12-23

    The Guyon's canal syndrome is a well known clinical entity and may have significant impact on patient's quality of life. We report a case of 43-year-old male who presented with complaints of pain and numbness in right hand and difficulty in writing for past one month. On imaging diagnosis of Guyon's canal syndrome because of tortuous ulnar artery was made with additional findings of DeQuervain's stenosing tenosynovitis and dorsal intercalated segmental instability syndrome with ligamentous injury and subsequently these were confirmed on surgery.Although it is a rare syndrome, early diagnosis and treatment prevents permanent neurological deficits and improve patient's quality of life.

  4. Ulnar nerve entrapment in Guyon's canal due to a lipoma.

    Science.gov (United States)

    Ozdemir, O; Calisaneller, T; Gerilmez, A; Gulsen, S; Altinors, N

    2010-09-01

    Guyon's canal syndrome is an ulnar nerve entrapment at the wrist or palm that can cause motor, sensory or combined motor and sensory loss due to various factors . In this report, we presented a 66-year-old man admitted to our clinic with a history of intermittent pain in the left palm and numbness in 4th and 5th finger for two years. His neurological examination revealed a sensory impairment in the right fifth finger. Also, physical examination displayed a subcutaneous mobile soft tissue in ulnar side of the wrist. Electromyographic examination confirmed the diagnosis of type-1 Guyon's canal syndrome. Under axillary blockage, a lipoma compressing the ulnar nerve was excised totally and ulnar nerve was decompressed. The symptoms were improved after the surgery and patient was symptom free on 3rd postoperative week.

  5. Tullio phenomenon in superior semicircular canal dehiscence syndrome.

    Science.gov (United States)

    Basura, Gregory J; Cronin, Scott J; Heidenreich, Katherine D

    2014-03-18

    Tullio phenomenon refers to eye movements induced by sound.(1) This unusual examination finding may be seen in superior semicircular canal dehiscence (SSCD) syndrome.(2) This disorder is due to absent bone over the superior semicircular canal (figure). Patients complain of dizziness triggered by loud sound, aural fullness, autophony, and pulsatile tinnitus. When Tullio phenomenon exists in SSCD syndrome, the patient develops a mixed vertical-torsional nystagmus in which the slow phase rotates up and away from the affected ear (video on the Neurology® Web site at Neurology.org). This pattern of nystagmus aligns in the plane of the dehiscent semicircular canal and is due to excitation of its afferent nerves.

  6. Superior Canal Dehiscence Syndrome Affecting 3 Families.

    Science.gov (United States)

    Heidenreich, Katherine D; Kileny, Paul R; Ahmed, Sameer; El-Kashlan, Hussam K; Melendez, Tori L; Basura, Gregory J; Lesperance, Marci M

    2017-07-01

    Superior canal dehiscence syndrome (SCDS) is an increasingly recognized cause of hearing loss and vestibular symptoms, but the etiology of this condition remains unknown. To describe 7 cases of SCDS across 3 families. This retrospective case series included 7 patients from 3 different families treated at a neurotology clinic at a tertiary academic medical center from 2010 to 2014. Patients were referred by other otolaryngologists or were self-referred. Each patient demonstrated unilateral or bilateral SCDS or near dehiscence. Clinical evaluation involved body mass index calculation, audiometry, cervical vestibular evoked myogenic potential testing, electrocochleography, and multiplanar computed tomographic (CT) scan of the temporal bones. Zygosity testing was performed on twin siblings. The diagnosis of SCDS was made if bone was absent over the superior semicircular canal on 2 consecutive CT images, in addition to 1 physiologic sign consistent with labyrinthine dehiscence. Near dehiscence was defined as absent bone on only 1 CT image but with symptoms and at least 1 physiologic sign of labyrinthine dehiscence. A total of 7 patients (5 female and 2 male; age range, 8-49 years) from 3 families underwent evaluation. Family A consisted of 3 adult first-degree relatives, of whom 2 were diagnosed with SCDS and 1 with near dehiscence. Family B included a mother and her child, both of whom were diagnosed with unilateral SCDS. Family C consisted of adult monozygotic twins, each of whom was diagnosed with unilateral SCDS. For all cases, dehiscence was located at the arcuate eminence. Obesity alone did not explain the occurrence of SCDS because 5 of the 7 cases had a body mass index (calculated as weight in kilograms divided by height in meters squared) less than 30.0. Superior canal dehiscence syndrome is a rare, often unrecognized condition. This report of 3 multiplex families with SCDS provides evidence in support of a potential genetic contribution to the etiology

  7. Computed tomography imaging for superior semicircular canal dehiscence syndrome

    International Nuclear Information System (INIS)

    Dobeli, Karen

    2006-01-01

    Superior semicircular canal dehiscence is a newly described syndrome of sound and/or pressure induced vertigo. Computed tomography (CT) imaging plays an important role in confirmation of a defect in the bone overlying the canal. A high resolution CT technique utilising 0.5 mm or thinner slices and multi-planar reconstructions parallel to the superior semicircular canal is required. Placement of a histogram over a suspected defect can assist CT diagnosis

  8. A Guyon's canal ganglion presenting as occupational overuse syndrome: A case report.

    LENUS (Irish Health Repository)

    Chan, Jeffrey C Y

    2008-01-01

    Occupational overuse syndrome (OOS) can present as Guyon\\'s canal syndrome in computer keyboard users. We report a case of Guyon\\'s canal syndrome caused by a ganglion in a computer user that was misdiagnosed as OOS.

  9. Gender and laterality in semicircular canal dehiscence syndrome.

    Science.gov (United States)

    Karimnejad, K; Czerny, M S; Lookabaugh, S; Lee, D J; Mikulec, A A

    2016-08-01

    To determine if there is gender or laterality predilection in patients with semicircular canal dehiscence syndrome. A multi-institutional chart review was performed to identify patients diagnosed with semicircular canal dehiscence between 2000 and 2015. A systematic literature search was conducted using PubMed to further identify patients with semicircular canal dehiscence. Age, gender and laterality data were collected. Statistical analysis was performed to evaluate for gender or laterality preponderance. A total of 682 patients with semicircular canal dehiscence were identified by literature and chart review. Mean age of diagnosis was 49.75 years (standard deviation = 15.33). Semicircular canal dehiscence was associated with a statistically significant female predominance (chi-square = 7.185, p = 0.007); the female-to-male ratio was 1.2 to 1. Left-sided semicircular canal dehiscence was most common, followed by right-sided then bilateral (chi-square = 23.457, p < 0.001). Semicircular canal dehiscence syndrome is most commonly left-sided and exhibits a female predominance. This may be secondary to morphological cerebral hemisphere asymmetries in both sexes and a predilection of women to seek more medical care than men.

  10. Superior Canal Dehiscence Syndrome: Lessons from the First 20 Years

    Directory of Open Access Journals (Sweden)

    Bryan K. Ward

    2017-04-01

    Full Text Available Superior semicircular canal dehiscence syndrome was first reported by Lloyd Minor and colleagues in 1998. Patients with a dehiscence in the bone overlying the superior semicircular canal experience symptoms of pressure or sound-induced vertigo, bone conduction hyperacusis, and pulsatile tinnitus. The initial series of patients were diagnosed based on common symptoms, a physical examination finding of eye movements in the plane of the superior semicircular canal when ear canal pressure or loud tones were applied to the ear, and high-resolution computed tomography imaging demonstrating a dehiscence in the bone over the superior semicircular canal. Research productivity directed at understanding better methods for diagnosing and treating this condition has substantially increased over the last two decades. We now have a sound understanding of the pathophysiology of third mobile window syndromes, higher resolution imaging protocols, and several sensitive and specific diagnostic tests. Furthermore, we have a treatment (surgical occlusion of the superior semicircular canal that has demonstrated efficacy. This review will highlight some of the fundamental insights gained in SCDS, propose diagnostic criteria, and discuss future research directions.

  11. Partial absence of the posterior semicircular canal in Alagille syndrome: CT findings

    Energy Technology Data Exchange (ETDEWEB)

    Koch, Bernadette; Egelhoff, John; Benton, Corning [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati (United States); Goold, Amy [Tripler Army Medical Center, Family Practice, Honolulu, HI (United States)

    2006-09-15

    We report a case of bilateral partial absence of the posterior semicircular canals (with normal lateral semicircular canals) imaged with CT in a patient with Alagille syndrome. Similar histologic findings have been reported in the pathology literature. This association has been previously reported only for Waardenburg syndrome in the imaging literature. We review the imaging findings and embryology of the semicircular canals, and suggest that this abnormality is specific to patients with Alagille or Waardenburg syndrome. (orig.)

  12. Partial absence of the posterior semicircular canal in Alagille syndrome: CT findings

    International Nuclear Information System (INIS)

    Koch, Bernadette; Egelhoff, John; Benton, Corning; Goold, Amy

    2006-01-01

    We report a case of bilateral partial absence of the posterior semicircular canals (with normal lateral semicircular canals) imaged with CT in a patient with Alagille syndrome. Similar histologic findings have been reported in the pathology literature. This association has been previously reported only for Waardenburg syndrome in the imaging literature. We review the imaging findings and embryology of the semicircular canals, and suggest that this abnormality is specific to patients with Alagille or Waardenburg syndrome. (orig.)

  13. Síndrome de Deiscência de Canal Semicircular Superior Superior Canal Dehiscence Syndrome

    Directory of Open Access Journals (Sweden)

    Suzane da Cunha Ferreira

    2006-06-01

    Full Text Available A Síndrome de Deiscência de Canal Semicircular Superior (SDCSS, primeiramente descrita em 1998 por Minor et al., caracteriza-se por vertigem associada à presença de nistagmo, relacionados à exposição a estímulos sonoros intensos ou a modificações de pressão dentro da orelha média ou intracraniana. Disacusia, em sua maioria de padrão condutivo à audiometria tonal, também pode estar presente. Nesta revisão da literatura objetivou-se abordar a SDCSS, com seus principais sinais e sintomas, achados diagnósticos e tratamento, assim como enfatizar a importância de sua inclusão dentre as causas de vertigem, visto tratar-se de acometimento ainda pouco conhecido até mesmo entre especialistas. O diagnóstico correto, além de possibilitar seu tratamento, impede que abordagens diagnósticas e terapêuticas inapropriadas sejam realizadas.The Superior Canal Dehiscence Syndrome (SCDS was first reported by Minor at. Al. (1998, and has been characterized by vertigo and vertical-torsional eye movements related to loud sounds or stimuli that change middle ear or intracranial pressure. Hearing loss, for the most part with conductive patterns on audiometry, may be present in this syndrome. We performed a literature survey in order to to present symptoms, signs, diagnostic and therapeutic approaches to the SCDS, also aiming at stressing the great importance of including this syndrome among the tractable cause of vertigo. We should emphasize that this is a recent issue, still unknown by some specialists. The Correct SCDS diagnosis, besides enabling patient treatment, precludes misdiagnosis and inadequate therapeutic approaches.

  14. Utricular paresis and semicircular canal hyperactivity: a distinct otolith syndrome.

    Science.gov (United States)

    Angeli, Simon I; Snapp, Hillary; Velandia, Sandra; Morgenstein, Kari

    2015-04-01

    Although combined utricular and canal paresis has been described previously, this is the first report of canal hyperactivity associated with utricular hypofunction. Unsteadiness and swaying were the most common symptoms, and patients with shorter duration of symptoms also had positional vertigo. We propose that this syndrome is a variant of utricular dysfunction and should be considered in the differential diagnosis of peripheral vestibular disorders. To describe a syndrome of instability associated with utricular dysfunction and hyperactive caloric responses. The study comprised 11 consecutive patients exhibiting abnormalities of the eccentric subjective visual vertical test (e-SVV) and high responses during the caloric test of the videonystagmography (VNG). We carried out a review of symptoms, physical examination, and vestibular tests. There was no gender predilection or obvious etiology. The patients' main complaint included instability with linear symptoms (i.e., tilting, rocking, and swaying), with positional vertigo as a secondary symptom. Oculomotor testing, visual fixation index, and brain MRI were normal, excluding a central nervous system disorder. VNG was essentially normal except for hyperactive responses during the caloric testing in all patients. Abnormal e-SVV was found in 10 patients unilaterally and bilaterally in 1 patient. Abnormal oVEMP was found in seven of seven patients, further supporting a utricular site of lesion.

  15. Atrioventricular canal defect and associated genetic disorders: new insights into polydactyly syndromes

    Directory of Open Access Journals (Sweden)

    M. Cristina Digilio

    2011-07-01

    Full Text Available Atrioventricular canal defect (AVCD is a common congenital heart defect (CHD, representing 7.4% of all cardiac malformations, considered secondary to an extracellular matrix anomaly. The AVCD is associated with extracardiac defects in about 75% of the cases. In this review we analyzed different syndromic AVCDs, in particular those associated with polydactyly disorders, which show remarkable genotype-phenotype correlations. Chromo - some imbalances more frequently associated with AVCD include Down syndrome, deletion 8p23 and deletion 3p25, while mendelian disorders include Noonan syndrome and related RASopathies, several polydactyly syndromes, CHARGE and 3C (cranio-cerebello-cardiac syndrome. The complete form of AVCD is prevalent in patients with chromosomal imbalances. Additional cardiac defects are found in patients affected by chromosomal imbalances different from Down syndrome. Left-sided obstructive lesions are prevalently found in patients with RASopathies. Patients with deletion 8p23 often display AVCD with tetralogy of Fallot or with pulmonary valve stenosis. Tetralogy of Fallot is the only additional cardiac defect found in patients with Down syndrome and AVCD. On the other hand, the association of AVCD and tetralogy of Fallot is also quite characteristic of CHARGE and 3C syndromes. Heterotaxia defects, including common atrium and anomalous pulmonary venous return, occur in patients with AVCD associated with polydactyly syndromes (Ellis-van Creveld, short rib polydactyly, oral-facial-digital, Bardet-Biedl, and Smith-Lemli-Opitz syndromes. The initial clinical evidence of anatomic similarities between AVCD and heterotaxia in polydactyly syndromes was corroborated and explained by experimental studies in transgenic mice. These investigations have suggested the involvement of the Sonic Hedgehog pathway in syndromes with postaxial polydactyly and heterotaxia, and ciliary dysfunction was detected as pathomechanism for these disorders

  16. Paraneoplastic Cushing Syndrome Due To Wilm's Tumor.

    Science.gov (United States)

    Faizan, Mahwish; Manzoor, Jaida; Saleem, Muhammad; Anwar, Saadia; Mehmood, Qaiser; Hameed, Ambreen; Ali, Agha Shabbir

    2017-05-01

    Paraneoplastic syndromes are rare disorders that are triggered by an altered immune system response to neoplasm. Paraneoplastic syndromes may be the first or the most prominent manifestations of cancer. Wilm's tumor is the most frequent pediatric renal malignancy and usually presents with abdominal mass. Unusual presentations like acquired von Willebrand disease, sudden death due to pulmonary embolism and Cushing syndrome have been described in the literature. Cushing syndrome, as the presenting symptom of a malignant renal tumor in children, is a very rare entity. Few case reports are available in the literature exploring the option of preoperative chemotherapy as well as upfront nephrectomy. We report a rare case of paraneoplastic Cushing syndrome due to a Wilm's tumor. Based on gradual decrease of postoperative weight, blood pressure, serum adrenocorticotropic hormone, and plasma cortisol levels, along with histological confirmation of Wilm's tumor, paraneoplastic Cushing syndrome due to Wilm's tumor was confirmed.

  17. Paraneoplastic cushing syndrome due to wilm's tumor

    International Nuclear Information System (INIS)

    Faizan, M.; Anwar, S.; Hameed, A.; Manzoor, J.; Saleem, M.; Mehmood, Q.; Ali, A. S.

    2017-01-01

    Paraneoplastic syndromes are rare disorders that are triggered by an altered immune system response to neoplasm. Paraneoplastic syndromes may be the first or the most prominent manifestations of cancer. Wilm's tumor is the most frequent pediatric renal malignancy and usually presents with abdominal mass. Unusual presentations like acquired von Willebrand disease, sudden death due to pulmonary embolism and Cushing syndrome have been described in the literature. Cushing syndrome, as the presenting symptom of a malignant renal tumor in children, is a very rare entity. Few case reports are available in the literature exploring the option of preoperative chemotherapy as well as upfront nephrectomy. We report a rare case of paraneoplastic Cushing syndrome due to a Wilm's tumor. Based on gradual decrease of postoperative weight, blood pressure, serum adrenocorticotropic hormone, and plasma cortisol levels, alongwith histological confirmation of Wilm's tumor, paraneoplastic Cushing syndrome due to Wilm's tumor was confirmed. (author)

  18. Triple –E Vessels: Tonnage Measurement and Suez Canal Dues Assessment

    Directory of Open Access Journals (Sweden)

    Elsayed Hussein Galall

    2015-08-01

    Full Text Available Container is growing faster than GDP, Shipping lines always attempt to augment efficiencyby reducing cost and by attracting larger volumes of containers. As a result rising containerfreight rates the lines have been driven to increase economic of scale, by building mega shipsand fewer mere efficient port calls. In 2011 Maersk line ordered up to 20 new “Triple- E “Class of container vessels deliversbetween 2013- 2015. These class of mega container vessels have its way through Suez Canal,other companies CMA, CGM also ordered this type of mega container vessels, in order toreach higher profits due to the achieved economics of scale It is believed that 20000 TEUcould be the next target size. Present mega container fleet and any future feasible potential vessel capacity expansionmore than 18000 TEU put Suez Canal route in strong competitive position. MeanwhilePanama Canal will not be able to handle vessels larger than 12600 TEU even after itsexpansion in 2015.

  19. Development of conductive hearing loss due to posterior semicircular canal dehiscence.

    Science.gov (United States)

    Kubota, Marie; Kubo, Kazuhiko; Yasui, Tetsuro; Matsumoto, Nozomu; Komune, Shizuo

    2015-06-01

    We herein report a case of posterior semicircular canal dehiscence (SCD) syndrome who had been audiologically followed up for eight years. The patient originally had sensorineural hearing loss. The audiogram had gradually transformed to pure conductive hearing loss. The posterior SCD was identified in CT scan. The reported case showed the possibility to distinguish the mechanism at play underlying the typical conductive hearing loss in SCD patients by tracing the transition of the hearing loss pattern. This information is of much help to predict the hearing outcomes if surgical intervention were chosen for the treatment. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  20. A Guyon's canal ganglion presenting as occupational overuse syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Hennessy Michael J

    2008-02-01

    Full Text Available Abstract Background Occupational overuse syndrome (OOS can present as Guyon's canal syndrome in computer keyboard users. We report a case of Guyon's canal syndrome caused by a ganglion in a computer user that was misdiagnosed as OOS. Case presentation A 54-year-old female secretary was referred with a six-month history of right little finger weakness and difficulty with adduction. Prior to her referral, she was diagnosed by her general practitioner and physiotherapist with a right ulnar nerve neuropraxia at the level of the Guyon's canal. This was thought to be secondary to computer keyboard use and direct pressure exerted on a wrist support. There was obvious atrophy of the hypothenar eminence and the first dorsal interosseous muscle. Both Froment's and Wartenberg's signs were positive. A nerve conduction study revealed that both the abductor digiti minimi and the first dorsal interosseus muscles showed prolonged motor latency. Ulnar conduction across the right elbow was normal. Ulnar sensory amplitude across the right wrist to the fifth digit was reduced while the dorsal cutaneous nerve response was normal. Magnetic resonance imaging of the right wrist showed a ganglion in Guyon's canal. Decompression of the Guyon's canal was performed and histological examination confirmed a ganglion. The patient's symptoms and signs resolved completely at four-month follow-up. Conclusion Clinical history, occupational history and examination alone could potentially lead to misdiagnosis of OOS when a computer user presents with these symptoms and we recommend that nerve conduction or imaging studies be performed.

  1. How to treat Guyon's canal syndrome? Results from the European HANDGUIDE study: a multidisciplinary treatment guideline

    NARCIS (Netherlands)

    Hoogvliet, P.; Coert, J. H.; Fridén, J.; Huisstede, B. M. A.; Bahm, J.; Dahlin, L.; Jørgsholm, P.; Kvernmo, H.; Lluch, A.; Luchetti, R.; Meuli, C.; Munk, B.; Rosales, R.; Schädel-Höpfner, M.; Stiasny, J.; Taskinen, H.; Thomsen, N.; van Uchelen, J.; Wiberg, M.; Ahlström, M.; Alexander, A.; Enhos, A.; Fairplay, T.; Ferrario, V.; Hermsen, P.; Knijnenburg, S.; Marincek, M.; Pipe, D.; Akre-Roos, K.; Sørensen, A.; Ylvisaker, R.; Zeipel, A.; Emmelot, C.; Gonçalves, L.; de Haart, M.; Paternostro-Sluga, T.; Sousa, A.

    2013-01-01

    Although Guyon's canal syndrome is not highly prevalent, a considerable knowledge of anatomy is needed to localise and treat the pathology. Data on the effectiveness of interventions for this disorder are lacking. To achieve consensus on a multidisciplinary treatment guideline for this disorder

  2. A case of anal canal cancer which developed fournier's syndrome after chemoradiotherapy

    International Nuclear Information System (INIS)

    Momma, Tomoyuki; Kikuchi, Daiki; Watanabe, Yohei; Onozawa, Hisashi; Suzuki, Satoshi; Nakamura, Izumi; Ohki, Shinji; Takenoshita, Seiichi; Yoshida, Noriyuki

    2013-01-01

    Fournier's syndrome is an acute necrotizing fasciitis of the perineum which progresses rapidly, resulting in poor prognosis if not treated appropriately at an early stage. Here we report a case of anal canal cancer which developed Fournier's syndrome after chemoradiotherapy (CRT). A 79-year-old man with anal canal cancer received a double-barrel sigmoid colostomy followed by concurrent CRT (50.4 Gy) with S-1 (100 mg/body). Although the patient was discharged after CRT, he developed a fever at 10 days after discharge and visited our hospital complaining of pain in the anal region. He was hospitalized with a diagnosis of Fournier's syndrome. Extensive drainage, administration of antibiotics, additional drainage and continuous irrigation of the affected region improved the symptoms of Fournier's syndrome. Multiple liver metastases were found on a CT scan at 3 months after onset of Fournier's syndrome, and the patient was transferred to another hospital for systemic chemotherapy. There have been no reports on the onset of Fournier's syndrome after CRT for rectal cancer with anal canal involvement; we report this case with a review of the literature. (author)

  3. Evolution of spinal cord injuries due to cervical canal stenosis without radiographic evidence of trauma (SCIWORET): a prospective study.

    Science.gov (United States)

    Lamothe, G; Muller, F; Vital, J-M; Goossens, D; Barat, M

    2011-06-01

    Traumatic spinal cord injuries on cervical canal stenosis represent a steadily increasing pathology, of which clinical and functional outcomes remain largely unknown. We present the results of a prospective study of 20 patients followed for one year who had presented with traumatic spinal cord injury involving initially acute neurological symptoms and cervical canal stenosis defined in the imaging by a Torg ratio0.65, without vertebral fracture. Traumatic spinal cord injuries on cervical canal stenosis are caused mainly by falls in the elderly population and by unsafe behaviour among younger subjects. Most of the patients present with initially incomplete tetraplegia, and two thirds have centromedullary syndrome. Association of complete tetraplegia with advanced age would seem to be a predictive factor of death in the early post-traumatic period. For incomplete tetraplegics, the main phase of neurological and functional recovery is observed over the first six months. Radiological data and timing of surgery do not appear to affect the prognosis. This study underlines the need for individualized specialized care of patients with spinal cord injuries on cervical canal stenosis, particularly according to their demographic and lesional characteristics. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

  4. Brown sequard syndrome following firearm injury with a bullet lodged in the upper cervical canal

    International Nuclear Information System (INIS)

    Brohi, S.R.; Brohi, Q.R.

    2008-01-01

    A case of stray bullet injury in a child is reported who presented with Brown-Sequard syndrome and CSF leak from the wound at the nape of neck. Patient was assessed by plain radiography and CT scans showing bullet lying in the cervical spinal canal under the C1 and C2 laminae. Laminectomy at C1/C2 level was done and bullet was carefully removed. Patient improved neurologically and CSF discharge stopped. The case report indicated the atypical neurological presentation and possibility of survival in high cervical spinal firearm injury. (author)

  5. Widening of the spinal canal and dural ectasia in Marfan's syndrome: assessment by CT

    International Nuclear Information System (INIS)

    Villeirs, G.M.; Verstraete, K.L.; Kunnen, M.F.; Tongerloo, A.J. van; Paepe, A.M. de

    1999-01-01

    We describe a method for diagnosing dural ectasia (DE) and spinal canal widening (SCW) using CT. We examined 23 patients with Marfan's syndrome (MFS), 17 with Ehlers-Danlos syndrome (EDS) and 29 normal subjects, using six axial slices at the level of the L1-S1 pedicles. Transverse diameters of the vertebral bodies, spinal canal and dural sac were measured and indices were defined to differentiate patients with DE and SCW from normal. Statistical significance was assessed using Student's t -test, χ 2 -test and Pearson's correlation coefficient. DE and SCW occurred in 69.6 % and 60.9 % of cases of MFS and in 23.5 % and 35.3 % of EDS respectively. In MFS, prevalence was significantly higher than in the control group. DE was significantly more frequent in MFS than in EDS. A strong correlation existed between DE and SCW in MFS and the control group, but not in EDS. Our system enables quantitative assessment of SCW and DE. The latter is particularly important in subjects suspected of having MFS, in whom it is a common and characteristic sign. (orig.)

  6. Diagnostic value of MRI for nerve root compression due to lumbar canal stenosis. Clinical and anatomic study

    International Nuclear Information System (INIS)

    Seki, Michihiro; Kikuchi, Shinichi; Kageyama, Kazuhiro; Katakura, Toshihiko; Suzuki, Kenji

    1995-01-01

    Magnetic resonance imaging (MRI) was undertaken in 26 patients with surgically proven nerve root compression due to lumbar canal stenosis. The findings on coronary images were compared with those of selective radiculography to assess the diagnostic ability of MRI to determine the site of nerve root compression. Intermission and partial defect, which reflect nerve root compression, were seen in only 5 (19.2%) of 26 nerve roots on MRI, as compared with 20 (76.9%) on radiculography. Thus MRI alone was difficult to diagnose nerve root compression due to lumbar canal stenosis. Furthermore, the optimum angle of coronary views was determined in 13 cadavers. Para-sagittal views were found to be optimal for the observation of the whole running of the nerve root. Three-dimensional MRI was found to have a potential to diagnose nerve root compression in the intervertebral foramen and the distal part of the intervertebral foramen. (N.K.)

  7. Nicolau syndrome due to hyaluronic acid injections.

    Science.gov (United States)

    Andre, Pierre; Haneke, Eckart

    2016-08-01

    Six cases of vascular compromise after hyaluronic injection are reported. Clinical symptoms realized a Nicolau syndrome, which is characterized by immediate pain, livedoid pattern and a few days later by the appearance of scabs and skin necrosis. This type of complication is rare, but may be dramatic and injectors must be aware of that. A thorough knowledge of facial anatomy is mandatory to avoid the risky facial areas. The use of a flexible cannula instead of a sharp needle has much less risk of hurting vessels and must be preferred. The support of the patient is discussed and a treatment protocol is proposed.

  8. Clinical predictors of lacunar syndrome not due to lacunar infarction

    Directory of Open Access Journals (Sweden)

    Comes Emili

    2010-05-01

    Full Text Available Background Lacunar syndrome not due to lacunar infarct is poorly characterised. This single centre, retrospective study was conducted to describe the clinical characteristics of patients with lacunar syndrome not due to lacunar infarct and to identify clinical predictors of this variant of lacunar stroke. Methods A total of 146 patients with lacunar syndrome not due to lacunar infarction were included in the "Sagrat Cor Hospital of Barcelona Stroke Registry" during a period of 19 years (1986-2004. Data from stroke patients are entered in the stroke registry following a standardized protocol with 161 items regarding demographics, risk factors, clinical features, laboratory and neuroimaging data, complications and outcome. The characteristics of these 146 patients with lacunar syndrome not due to lacunar infarct were compared with those of the 733 patients with lacunar infarction. Results Lacunar syndrome not due to lacunar infarct accounted for 16.6% (146/879 of all cases of lacunar stroke. Subtypes of lacunar syndromes included pure motor stroke in 63 patients, sensorimotor stroke in 51, pure sensory stroke in 14, atypical lacunar syndrome in 9, ataxic hemiparesis in 5 and dysarthria-clumsy hand in 4. Valvular heart disease, atrial fibrillation, sudden onset, limb weakness and sensory symptoms were significantly more frequent among patients with lacunar syndrome not due to lacunar infarct than in those with lacunar infarction, whereas diabetes was less frequent. In the multivariate analysis, atrial fibrillation (OR = 4.62, sensorimotor stroke (OR = 4.05, limb weakness (OR = 2.09, sudden onset (OR = 2.06 and age (OR = 0.96 were independent predictors of lacunar syndrome not due to lacunar infarct. Conclusions Although lacunar syndromes are highly suggestive of small deep cerebral infarctions, lacunar syndromes not due to lacunar infarcts are found in 16.6% of cases. The presence of sensorimotor stroke, limb weakness and sudden onset in a patient

  9. CT in low back and sciatic pain due to lumbar canal osseous changes

    International Nuclear Information System (INIS)

    Rosa, M.; Capellini, C.; Canevari, M.A.; Prosetti, D.; Schiavoni, S.

    1986-01-01

    In a consecutive series of 600 patients scanned by CT for various spinal diseases, those with low back and sciatic pain without disc herniation were selected for study. The causes proved to be joint facet degeneration (32 cases), stenosis of the neural foramina (13 cases), stenosis of the spinal canal (13 cases), lateral recess stenosis (6 cases) and spondylolisthesis (6 cases). The predominance of joint fact pathology as the underlying cause of low back and sciatic pain in the absence of disc herniation is confirmed. CT scanning of the soft tissues as well as of the skeletal structures is crucial to the aetiological diagnosis of the condition under study and hence to the proper planning of treatment. (orig.)

  10. Mugwort-Mustard Allergy Syndrome due to Broccoli Consumption

    Directory of Open Access Journals (Sweden)

    Yuri Sugita

    2016-01-01

    Full Text Available Pollen-food allergy syndrome (PFAS is a relatively rare form of food allergy which develops in individuals who are sensitized to pollen. Tree pollens, especially birch pollen, frequently induce PFAS; however, the incidence of PFAS due to grass or weed pollens such as ragweed or mugwort is relatively rare. Mugwort-mustard allergy syndrome (MMAS is an example of a PFAS in which individuals sensitized to mugwort may develop an allergy to mustard and experience severe reactions. We herein describe a case of MMAS due to broccoli consumption.

  11. Cerebellum Abnormalities, the 5th C in CHARGE Syndrome

    NARCIS (Netherlands)

    Wong, Tsz; de Geus, Christa; Meiners, Linda C; Sival, Deborah; Yu, Tian; Basson, M. Albert; Arts, Cornelia

    Introduction and background: Children with CHARGE syndrome often have balance problems due to hypoplasia of the semicircular canals. Balance involves the complex task of integrating postural responses and multisensory (visual, labyrinthine from the semi-circular canals, and proprioceptive) feedback.

  12. A Case with Repeated Recurrent Acute Coronary Syndrome due to Pseudoephedrine Use: Kounis Syndrome

    Directory of Open Access Journals (Sweden)

    Metin Çeliker

    2014-01-01

    Full Text Available Allergic reaction-associated acute coronary syndrome picture is defined as Kounis syndrome. Although drug use is the most common cause of allergic reaction, foods and environmental factors may also play a role in the etiology. Herein, a case with acute coronary syndrome that developed two times at 8-month interval due to pseudoephedrine use for upper respiratory tract infection is presented.

  13. Anton's syndrome due to cerebrovascular disease: a case report

    Directory of Open Access Journals (Sweden)

    Maddula Mohana

    2009-09-01

    Full Text Available Abstract Introduction Anton's syndrome describes the condition in which patients deny their blindness despite objective evidence of visual loss, and moreover confabulate to support their stance. It is a rare extension of cortical blindness in which, in addition to the injury to the occipital cortex, other cortical centres are also affected, with patients typically behaving as if they were sighted. Case presentation We present a case report of an 83-year-old white woman with cortical blindness as a result of bilateral occipital lobe infarcts. Despite her obvious blindness, illustrated by her walking into objects, the patient expressed denial of visual loss and demonstrated confabulation in her accounts of her surroundings, consistent with a diagnosis of Anton's syndrome. Conclusions A suspicion of cortical blindness and Anton's syndrome should be considered in patients with atypical visual loss and evidence of occipital lobe injury. Cerebrovascular disease is the most common cause of Anton's syndrome, as in our patient. However, any condition that may result in cortical blindness can potentially lead to Anton's syndrome. Recovery of visual function will depend on the underlying aetiology, with cases due to occipital lobe infarction after cerebrovascular events being less likely to result in complete recovery. Management in these circumstances should accordingly focus on secondary prevention and rehabilitation.

  14. A CLINICORADIOLOGICAL STUDY OF MIDDLE LOBE SYNDROME DUE TO TUBERCULOSIS

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    Saurabh Karmakar

    2016-09-01

    Full Text Available BACKGROUND Although pulmonary tuberculosis is a common disease in India, tuberculosis of right middle lobe is infrequent. Tuberculosis of the right middle lobe leading to chronic collapse is a cause of Right Middle Lobe syndrome. METHODS The patients attended Pulmonary Medicine Outdoor at Era’s Lucknow Medical College, Lucknow from April 2015 to March 2016. The purpose of this study is to describe the clinicoradiological features of patients of middle lobe syndrome due to tuberculosis. All patients presented with cough with or without expectoration, fever, chest pain, haemoptysis and constitutional symptoms like loss of appetite and weight. Chest X-ray PA view revealed ill-defined opacity abutting the right cardiac border. HRCT thorax was done in each case. The diagnosis of tuberculous aetiology was based on (1 History of chronic cough and fever, not responding to antibiotic therapy and constitutional symptoms, (2 A positive tuberculin test using 2 TU of PPD RT 23 and (3 Detection of acid fast bacilli by direct smear or Mycobacterium tuberculosis by polymerase chain reaction in bronchoalveolar lavage. RESULTS Out of 10 patients, 4 (40% were males and 6 (60% were females. The mean ages of the males were 55.8 years and females were 60.8 years and overall mean age was 59 years. Most of the patients were females and belonged to the middle age and old age group. ATT was started in all the patients. CONCLUSIONS Right middle lobe syndrome predominantly affects the older population and the female gender. Although tuberculosis is a common disease in India, Middle Lobe Syndrome is a very rare presentation of the disease. Due to non-specific symptoms and usually normal chest X-ray PA view in Right Middle Lobe Syndrome, we should keep a high index of suspicion to diagnose the condition.

  15. Concomitant pharmacoroentgenological study of the biliferous tract and alimentary canal in the diagnosis of of cholecystitis and the postcholecystectomy syndrome

    International Nuclear Information System (INIS)

    Polyak, E.Z.; Trigubchak, D.I.

    1984-01-01

    The cholecystocholangiography technique concomitant with X-ray examination of the alimentary canal under the conditions of hypotension realized by administration neostigmine methylsulfate is developed. 154 patients have been examined, including 69 patients with postcholecystectomy syndrome, 45-with calculouless cholecystitis and 40-with calculous cholecystitis. Utilization of neurotropic preparations, single-moment investigation of biliferous tracts, stomack and duodenum under the conditions of their functional interrelation permit to study X-ray functional symptoms of cholangitis and papillitis, specify X-ray cholecistitis and pancreatitis semiotics. The proposed technique is simple for realization and its application is quite accessible under ambulatory conditions

  16. Fractures and Fanconi syndrome due to prolonged sodium valproate use.

    Science.gov (United States)

    Dhillon, N; Högler, W

    2011-06-01

    Sodium valproate (VPA) is commonly used to treat epilepsy in children. Renal dysfunction is a rare side eff ect but can present as tubulopathy such as Fanconi syndrome. We report on an 8-year-old disabled girl with myoclonic epilepsy who was referred for investigation of recurrent low impact fractures of the distal femur which were initially thought to be caused by her severe immobility. However, she was subsequently found to have hypophosphataemia secondary to Fanconi syndrome due to prolonged VPA use. After VPA withdrawal renal function and serum phosphate levels normalised and X-rays improved dramatically. The possibility of drug-induced osteoporosis and fractures should always be considered in disabled children, even in the presence of severe immobility.

  17. Widening of the spinal canal and dural ectasia in Marfan's syndrome: assessment by CT

    Energy Technology Data Exchange (ETDEWEB)

    Villeirs, G.M.; Verstraete, K.L.; Kunnen, M.F. [Dept. of Radiology, Univ. Hospital, Gent (Belgium); Tongerloo, A.J. van; Paepe, A.M. de [Dept. of Medical Genetics, Univ. Hospital, Gent (Belgium)

    1999-11-01

    We describe a method for diagnosing dural ectasia (DE) and spinal canal widening (SCW) using CT. We examined 23 patients with Marfan's syndrome (MFS), 17 with Ehlers-Danlos syndrome (EDS) and 29 normal subjects, using six axial slices at the level of the L1-S1 pedicles. Transverse diameters of the vertebral bodies, spinal canal and dural sac were measured and indices were defined to differentiate patients with DE and SCW from normal. Statistical significance was assessed using Student's t -test, {chi} {sup 2}-test and Pearson's correlation coefficient. DE and SCW occurred in 69.6 % and 60.9 % of cases of MFS and in 23.5 % and 35.3 % of EDS respectively. In MFS, prevalence was significantly higher than in the control group. DE was significantly more frequent in MFS than in EDS. A strong correlation existed between DE and SCW in MFS and the control group, but not in EDS. Our system enables quantitative assessment of SCW and DE. The latter is particularly important in subjects suspected of having MFS, in whom it is a common and characteristic sign. (orig.)

  18. Anton's Syndrome due to Bilateral Ischemic Occipital Lobe Strokes.

    Science.gov (United States)

    Zukić, Sanela; Sinanović, Osman; Zonić, Lejla; Hodžić, Renata; Mujagić, Svjetlana; Smajlović, Edina

    2014-01-01

    We present a case of a patient with Anton's syndrome (i.e., visual anosognosia with confabulations), who developed bilateral occipital lobe infarct. Bilateral occipital brain damage results in blindness, and patients start to confabulate to fill in the missing sensory input. In addition, the patient occasionally becomes agitated and talks to himself, which indicates that, besides Anton's syndrome, he might have had Charles Bonnet syndrome, characterized by both visual loss and hallucinations. Anton syndrome, is not so frequent condition and is most commonly caused by ischemic stroke. In this particular case, the patient had successive bilateral occipital ischemia as a result of massive stenoses of head and neck arteries.

  19. Cyclical Cushing's syndrome due to an atypical thymic carcinoid

    NARCIS (Netherlands)

    Meinardi, [No Value; van den Berg, G; Wolffenbuttel, BHR; Kema, IP; Dullaart, RPF

    A 43-year-old man presented with fluctuating symptoms of weight gain, shortness of breath, pretibial oedema, associated with anxiety and memory disturbances. Laboratory investigation revealed an adrenocorticotropin (ACTH)-dependent cyclical Cushing's syndrome characterised by remarkable variations

  20. RRH: envenoming syndrome due to 200 stings from Africanized honeybees

    Directory of Open Access Journals (Sweden)

    Guilherme Almeida Rosa da Silva

    2013-02-01

    Full Text Available Envenoming syndrome from Africanized bee stings is a toxic syndrome caused by the inoculation of large amounts of venom from multiple bee stings, generally more than five hundred. The incidence of severe toxicity from Africanized bee stings is rare but deadly. This report reveals that because of the small volume of distribution, having fewer stings does not exempt a patient from experiencing an unfavorable outcome, particularly in children, elderly people or underweight people.

  1. Otalgia and eschar in the external auditory canal in scrub typhus complicated by acute respiratory distress syndrome and multiple organ failure

    Directory of Open Access Journals (Sweden)

    Hu Sung-Yuan

    2011-03-01

    Full Text Available Abstract Background Scrub typhus, a mite-transmitted zoonosis caused by Orientia tsutsugamushi, is an endemic disease in Taiwan and may be potentially fatal if diagnosis is delayed. Case presentations We encountered a 23-year-old previously healthy Taiwanese male soldier presenting with the right ear pain after training in the jungle and an eleven-day history of intermittent high fever up to 39°C. Amoxicillin/clavulanate was prescribed for otitis media at a local clinic. Skin rash over whole body and abdominal cramping pain with watery diarrhea appeared on the sixth day of fever. He was referred due to progressive dyspnea and cough for 4 days prior to admission in our institution. On physical examination, there were cardiopulmonary distress, icteric sclera, an eschar in the right external auditory canal and bilateral basal rales. Laboratory evaluation revealed thrombocytopenia, elevation of liver function and acute renal failure. Chest x-ray revealed bilateral diffuse infiltration. Doxycycline was prescribed for scrub typhus with acute respiratory distress syndrome and multiple organ failure. Fever subsided dramatically the next day and he was discharged on day 7 with oral tetracycline for 7 days. Conclusion Scrub typhus should be considered in acutely febrile patients with multiple organ involvement, particularly if there is an eschar or a history of environmental exposure in endemic areas. Rapid and accurate diagnosis, timely administration of antibiotics and intensive supportive care are necessary to decrease mortality of serious complications of scrub typhus.

  2. Complete atrioventricular canal.

    Science.gov (United States)

    Calabrò, Raffaele; Limongelli, Giuseppe

    2006-04-05

    Complete atrioventricular canal (CAVC), also referred to as complete atrioventricular septal defect, is characterised by an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the ventricular septum inflow. CAVC is an uncommon congenital heart disease, accounting for about 3% of cardiac malformations. Atrioventricular canal occurs in two out of every 10,000 live births. Both sexes are equally affected and a striking association with Down syndrome was found. Depending on the morphology of the superior leaflet of the common atrioventricular valve, 3 types of CAVC have been delineated (type A, B and C, according to Rastelli's classification). CAVC results in a significant interatrial and interventricular systemic-to-pulmonary shunt, thus inducing right ventricular pressure and volume overload and pulmonary hypertension. It becomes symptomatic in infancy due to congestive heart failure and failure to thrive. Diagnosis of CAVC might be suspected from electrocardiographic and chest X-ray findings. Echocardiography confirms it and gives anatomical details. Over time, pulmonary hypertension becomes irreversible, thus precluding the surgical therapy. This is the reason why cardiac catheterisation is not mandatory in infants (less than 6 months) but is indicated in older patients if irreversible pulmonary hypertension is suspected. Medical treatment (digitalis, diuretics, vasodilators) plays a role only as a bridge toward surgery, usually performed between the 3rd and 6th month of life.

  3. Complete atrioventricular canal

    Directory of Open Access Journals (Sweden)

    Limongelli Giuseppe

    2006-04-01

    Full Text Available Abstract Complete atrioventricular canal (CAVC, also referred to as complete atrioventricular septal defect, is characterised by an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the ventricular septum inflow. CAVC is an uncommon congenital heart disease, accounting for about 3% of cardiac malformations. Atrioventricular canal occurs in two out of every 10,000 live births. Both sexes are equally affected and a striking association with Down syndrome was found. Depending on the morphology of the superior leaflet of the common atrioventricular valve, 3 types of CAVC have been delineated (type A, B and C, according to Rastelli's classification. CAVC results in a significant interatrial and interventricular systemic-to-pulmonary shunt, thus inducing right ventricular pressure and volume overload and pulmonary hypertension. It becomes symptomatic in infancy due to congestive heart failure and failure to thrive. Diagnosis of CAVC might be suspected from electrocardiographic and chest X-ray findings. Echocardiography confirms it and gives anatomical details. Over time, pulmonary hypertension becomes irreversible, thus precluding the surgical therapy. This is the reason why cardiac catheterisation is not mandatory in infants (less than 6 months but is indicated in older patients if irreversible pulmonary hypertension is suspected. Medical treatment (digitalis, diuretics, vasodilators plays a role only as a bridge toward surgery, usually performed between the 3rd and 6th month of life.

  4. Burning mouth syndrome due to herpes simplex virus type 1.

    Science.gov (United States)

    Nagel, Maria A; Choe, Alexander; Traktinskiy, Igor; Gilden, Don

    2015-04-01

    Burning mouth syndrome is characterised by chronic orofacial burning pain. No dental or medical cause has been found. We present a case of burning mouth syndrome of 6 months duration in a healthy 65-year-old woman, which was associated with high copy numbers of herpes simplex virus type 1 (HSV-1) DNA in the saliva. Her pain resolved completely after antiviral treatment with a corresponding absence of salivary HSV-1 DNA 4 weeks and 6 months later. 2015 BMJ Publishing Group Ltd.

  5. Le syndrome du canal carpien chez les patients hémodialysés ...

    African Journals Online (AJOL)

    La comparaison statistique entre les deux groupes de patients avec et sans SCC a démontré que la survenue de ce syndrome est liée à: l'âge actuel, l'âge avancé à la mise en hémodialyse, le sexe féminin, l'excès pondéral, et l'abord vasculaire. Le SCC est une complication fréquente de l'hémodialyse chronique.

  6. Hypokalemic paralysis due to primary hyperaldosteronism simulating gitelman′s syndrome

    Directory of Open Access Journals (Sweden)

    Kasifoglu Timucin

    2009-01-01

    Full Text Available Some diseases, such as Gitelman′s syndrome, Bartter′s syndrome, and primary hyperaldosteronism (Conn′s syndrome, may bear some similar clinical and laboratory findings. Their treatment modalities being different from one another, the need for a scrupulous diagnostic evaluation arises as far as clinical practice is concerned. In this report, we present a patient with Conn′s syndrome who was initially considered to have Gitelman′s syndrome due to displaying a few overlapping features of both diseases. We also give an account of the hardships encountered during the diagnostic evaluation.

  7. A rare fatality due to calcified stylohyoid ligament (Eagle syndrome).

    Science.gov (United States)

    Gupta, Avneesh; Aggrawal, Anil; Setia, Puneet

    2017-06-01

    The elongation or calcification of the stylohyoid ligament that leads to pressure symptoms, or entrapment of nearby glossopharyngeal nerve or carotid artery, is known as Eagle syndrome. A PubMed search leads to finding of rare fatality among the 49 reported cases. In the present case, the deceased was a 40-year-old male who choked on his food. We hypothesise that the impaction of food in the upper respiratory tract, as well as the inability to intubate the person, were both the result of the calcified stylohyoid ligament.

  8. Pseudo-meigs syndrome due to subserosal leiomyoma diagnosed by MR imaging: case report

    International Nuclear Information System (INIS)

    Park, Hyun Jin; Jung, Seung Eun; Lee, Jae Mun; Lee, Kyo Young; Han, Ku Taek; Hahn, Seong Tai

    2002-01-01

    We report a case of pseudo-meigs syndrome due to a large subserosal leiomyoma in a patient with a high serum carcinogenic antigen 125 level. Initial clinical examination suggested disseminated malignant disease though the typical signal characteristics of leiomyoma, seen at MR imaging, led to the diagnosis of pseudo-meigs syndrome

  9. Pseudo-meigs syndrome due to subserosal leiomyoma diagnosed by MR imaging: case report

    Energy Technology Data Exchange (ETDEWEB)

    Park, Hyun Jin; Jung, Seung Eun; Lee, Jae Mun; Lee, Kyo Young; Han, Ku Taek; Hahn, Seong Tai [The Catholic University of Korea, Seoul (Korea, Republic of)

    2002-12-01

    We reports a case of pseudo-meigs syndrome due to a large subserosal leiomyoma in a patient with a high serum carcinogenic antigen 125 level. Initial clinical examination suggested disseminated malignant disease though the typical signal characteristics of leiomyoma, seen at MR imaging, led to the diagnosis of pseudo-meigs syndrome.

  10. Pulmonary hypertension due to acute respiratory distress syndrome

    Directory of Open Access Journals (Sweden)

    S.A. Ñamendys-Silva

    2014-10-01

    Full Text Available Our aims were to describe the prevalence of pulmonary hypertension in patients with acute respiratory distress syndrome (ARDS, to characterize their hemodynamic cardiopulmonary profiles, and to correlate these parameters with outcome. All consecutive patients over 16 years of age who were in the intensive care unit with a diagnosis of ARDS and an in situ pulmonary artery catheter for hemodynamic monitoring were studied. Pulmonary hypertension was diagnosed when the mean pulmonary artery pressure was >25 mmHg at rest with a pulmonary artery occlusion pressure or left atrial pressure <15 mmHg. During the study period, 30 of 402 critically ill patients (7.46% who were admitted to the ICU fulfilled the criteria for ARDS. Of the 30 patients with ARDS, 14 met the criteria for pulmonary hypertension, a prevalence of 46.6% (95% CI; 28-66%. The most common cause of ARDS was pneumonia (56.3%. The overall mortality was 36.6% and was similar in patients with and without pulmonary hypertension. Differences in patients' hemodynamic profiles were influenced by the presence of pulmonary hypertension. The levels of positive end-expiratory pressure and peak pressure were higher in patients with pulmonary hypertension, and the PaCO2 was higher in those who died. The level of airway pressure seemed to influence the onset of pulmonary hypertension. Survival was determined by the severity of organ failure at admission to the intensive care unit.

  11. Scalloping at the lumbosacral canal

    Energy Technology Data Exchange (ETDEWEB)

    Reinhardt, R.

    1987-07-01

    Scalloping is an indentation of the dorsal side of the vertebral body (anterior wall of the lumbosacral or sacral canal) which typically involves several adjacent lumbal vertebral body segments and the anterior wall of the canalis sacralis. Occurrence without underlying disease is rare; it occurs most frequently with chondrodystrophy, neurofibromatosis, Morquio's syndrome, Hurler's syndrome, acromegaly, Ehlers-Danlos syndrome, Marfan's syndrome, cysts, tumors and in peridural lipomas.

  12. Scalloping at the lumbosacral canal

    International Nuclear Information System (INIS)

    Reinhardt, R.

    1987-01-01

    Scalloping is an indentation of the dorsal side of the vertebral body (anterior wall of the lumbosacral or sacral canal) which typically involves several adjacent lumbal vertebral body segments and the anterior wall of the canalis sacralis. Occurrence without underlying disease is rare; it occurs most frequently with chondrodystrophy, neurofibromatosis, Morquio's syndrome, Hurler's syndrome, acromegaly, Ehlers-Danlos syndrome, Marfan's syndrome, cysts, tumors and in peridural lipomas. (orig.) [de

  13. Prospective radiological study concerning a series of patients suffering from conductive or mixed hearing loss due to superior semicircular canal dehiscence.

    Science.gov (United States)

    Martin, Christian; Chahine, Pierre; Veyret, Charles; Richard, Céline; Prades, Jean Michel; Pouget, Jean François

    2009-08-01

    The aim of this study is to appreciate the incidence of patients with isolated conductive hearing loss with normal drum due to superior semicircular canal dehiscence (SCD). It is a prospective radiological study. Two hundred and seventy-two patients with a normal drum suffering from isolated unilateral or bilateral conductive or mixed hearing loss were included in a prospective radiological study. A high resolution computerized tomography (HRCT) was performed in all the patients. Those who were found to have a unilateral or bilateral SCD underwent further etiological, clinical, audiologic evaluation. Ten patients with conductive or mixed hearing loss were found to have a unilateral or bilateral SCD. The disease was bilateral in five cases, and most often associated with a dehiscence of the tegmen tympani on both sides, supporting the theory of the congenital nature of the disease. There was no clear correlation between symptoms and the size of the SCD. Because patients were not suffering from incapacitating vestibular symptoms, they were not operated for surgical occlusion of the SCD, and were referred to a hearing aid specialist to improve hearing. Conductive or mixed hearing loss due to SCD is relatively frequent, justifying in our opinion that a systematic HRCT be carried out before surgery of any patient with conductive hearing loss.

  14. Painful tic convulsif syndrome due to vertebrobasilar dolichoectasia

    Directory of Open Access Journals (Sweden)

    Puneet Mittal

    2011-01-01

    Full Text Available Combined clinical presentation of hemifacial spasm and ipsilateral trigeminal neuralgia is also known as painful tic convulsif (PTC. It is a rare condition and the most common cause is vascular compression. Vertebrobasilar dolichoectasia (VBD is characterized by dilated and tortuous vertebral and basilar arteries. VBD is an uncommon and rarely reported cause of PTC. Magnetic resonance imaging (MRI, due to its inherent excellent contrast resolution, is an excellent modality for demonstrating the nerve compression by dilated and tortuous vessels seen in this condition. For this purpose, 3D MRI sequences are especially useful like constructive interference in steady state (CISS and MR angiography. Both of these have been reported to be helpful in the diagnosis of this condition. We report a case of PTC in which we were able to document facial and trigeminal nerve compression by VBD on MRI, using CISS and time-of-flight MR angiography.

  15. Superior Vena Cava Syndrome due to Thrombosis: A Rare Paraneoplastic Presentation of Bronchogenic Carcinoma

    Directory of Open Access Journals (Sweden)

    Avradip Santra

    2016-07-01

    Full Text Available Superior vena cava (SVC syndrome is not an uncommon occurrence in patients with malignancy and it is often described as a medical emergency. In majority of the cases, SVC syndrome occurs due to mechanical obstruction of the SVC by extraluminal compression with primary intrathoracic malignancies. However, intraluminal obstruction due to thrombosis can also produce symptoms and signs of SVC syndrome. Clot-related SVC obstruction is mostly associated with indwelling central venous catheter and pacemaker leads, although such thrombosis can occur spontaneously in a background of a hypercoagulable state, e.g., malignancy. Here, an unusual case of sudden onset SVC syndrome has been reported, which on initial radiologic evaluation was found to have a lung nodule without any significant mediastinal mass or adenopathy compressing SVC. Subsequent investigation with Doppler ultrasonography of the neck showed thrombosis in the right internal jugular, right subclavian and right brachiocephalic vein, which was responsible for SVC syndrome. Histopathological evaluation of lung nodule confirmed presence of an adenocarcinoma. Therefore, venous thromboembolism as a paraneoplastic syndrome should be kept in mind while evaluating a case of SVC obstruction in a cancer patient. Management of the underlying disease is of prime importance in such cases and anticoagulation is the mainstay of therapy. Ability to identify paraneoplastic syndrome may have a significant effect on clinical outcome, ranging from early diagnosis to improved quality of life of the patient.

  16. SHOCK SYNDROME IN A PATIENT WITH HYPOPITUITARISM DUE TO BRAIN TUMOR

    Directory of Open Access Journals (Sweden)

    Andreja Sinkovič

    2004-04-01

    Full Text Available Background. Shock syndrome is an acute tissue hypoperfusion. Early diagnosis and adequate symptomatic and causal treatment are mandatory. In spite of different etiologies (dehidration, bleeding, heart failure, sepsis, clinical signs and symptomes are similar (hypotension, tachicardia, tachipnoe, pallor, cold and wet skin, oliguria and metabolic acidosis. Rarely, the shock syndrome is the consequence of the adrenal insufficiency due to hypopituitarism caused by brain tumor where early treatment with hydrocortisone is urgent.Methods. This article presents a patient with a shock syndrome and multiorgan failure. Endocrinological testing and brain CT demonstrated an endocrinologically inactive tumor of hypophysis. The tumor was growing into adjacent hypophyseal tissue and causing hypopituitarism with secondary hypothyroidism and adrenal insufficiency and deficit of both gonadotropins and growth hormone.Conclusions. Primary or secondary adrenal insufficiency are among rare causes of shock syndrome. Whenever it is suspected, estimation of serum levels of cortisol and ACTH is necessary and immediate treatment with hydrocortisone should be instituted.

  17. canal24

    Data.gov (United States)

    California Natural Resource Agency — Canal system center lines in the Central Valley of California and adjacent areas captured from 1:24,000-scale USGS topographic maps. Updates and modifications made...

  18. Sjögren syndrome presenting with hypopotassemic periodic paralysis due to renal tubular acidosis

    Science.gov (United States)

    Ataoglu, Esra Hayriye; Demir, Betul; Tuna, Mazhar; Çavus, Bilger; Cetin, Faik; Temiz, Levent Umit; Ozturk, Savas; Yenigun, Mustafa

    2012-01-01

    Summary Background: Sjögren syndrome (SS) is an autoimmune-lymphoproliferative disorder characterized by mononuclear cell infiltration of exocrine glands. Clinically, Sjögren syndrome (SS) has a wide spectrum, varying from autoimmune exocrinopathy to systemic involvement. There have been few cases reporting that primary SS developed with distal renal tubular acidosis clinically. Case Report: Here, we present a case with primary Sjögren syndrome accompanied by hypopotassemic paralysis due to renal tubular acidosis. Severe hypopotassemia, hyperchloremic metabolic acidosis, alkaline urine and disorder in urinary acidification test were observed in the biochemical examination of the 16-year-old female patient, who had applied to our clinic for extreme loss of muscle force. After the examinations it was determined that the patient had developed Type 1 RTA (distal RTA) due to primary Sjögren syndrome. Potassium and alkaline replacement was made and an immediate total recovery was achieved. Conclusions: Hypopotassemic paralysis due to primary Sjögren syndrome is a rare but severe disorder that could lead to death if not detected early and cured appropriately. Thus, effective treatment should be immediately initiated in cases where severe hypopotassemia is accompanied by metabolic acidosis, and the cases should also be examined for extraglandular involvement of SS. PMID:23569525

  19. Exérese do segmento vertical do canalículo lacrimal na síndrome do olho seco: estudo preliminar Removal of the vertical portion of the lacrimal canaliculus in dry eye syndrome

    Directory of Open Access Journals (Sweden)

    Eliana Forno

    2005-04-01

    Full Text Available OBJETIVO: Avaliar a eficácia e possíveis complicações da remoção do segmento vertical do canalículo lacrimal, em pacientes com síndrome do olho seco grave. MÉTODOS: Seis canalículos de quatro pacientes, 3 dos quais tinham o diagnóstico de olho seco associado à síndrome de Sjögren primária e o quarto, ceratoconjuntivite sicca por remoção completa de glândula lacrimal, foram submetidos a exérese do segmento vertical do canalículo lacrimal. Os critérios de inclusão foram: sinais e sintomas de olho seco que não melhoraram com tratamento clínico, Schirmer menor que 5 mm, rosa bengala corando córnea e conjuntiva e casos de recanalização após eletrocauterização dos pontos. Os pontos lacrimais foram avaliados por exame biomicroscópico após 7, 15, 30, 90 e 180 dias da cirurgia. RESULTADOS: No período de seguimento, nenhum canalículo sofreu recanalização. Em cinco olhos, houve diminuição da ceratite ponteada difusa e dos filamentos corneanos e melhora nos valores do teste de Schirmer e rosa bengala. No olho submetido à remoção completa da glândula lacrimal, a córnea ainda apresentava ceratite ponteada difusa, mesmo após dois meses de cirurgia. Não houve alterações da margem palpebral. CONCLUSÃO: Esta técnica, além de mostrar-se efetiva e simples para oclusão permanente do canalículo lacrimal, não cursou com complicações observadas em outros procedimentos.PURPOSE: To demonstrate the efficacy and possible complications of a surgical technique that includes the removal of the vertical portion of the lacrimal canaliculus in patients with dry eye syndrome. METHODS: A study was performed on six canaliculi of six eyes (four patients. Three patients had dry eye, associated with primary Sjögren syndrome. One of the four patients developed keratoconjuntivitis sicca due to lacrimal gland removal. The criteria included: patients with symptoms of dry eye that did not improve even with the continuous use of

  20. Cushing Syndrome in a 6-Month-Old Infant due to Adrenocortical Tumor

    Directory of Open Access Journals (Sweden)

    Volmar KeithE

    2009-09-01

    Full Text Available Cushing syndrome is rare in infancy and usually due to an adrenocortical tumor (ACT. We report an infant with Cushing syndrome due to adrenocortical carcinoma. The patient presented at six months of age with a three-month history of growth failure, rapid weight gain, acne, and irritability. Physical examination showed obesity, hypertension, and Cushingoid features. Biochemical evaluation showed very high serum cortisol, mildly elevated testosterone, and suppressed ACTH. Abdominal MRI revealed a heterogeneous right adrenal mass extending into the inferior vena cava. Evaluation for metastases was negative. The tumor was removed surgically en bloc. Pathologic examination demonstrated low mitotic rate, but capsular and vascular invasion. She received no adjuvant therapy. Her linear growth has improved and Cushingoid features resolved. Hormonal markers and quarterly PET scans have been negative for recurrence 24 months postoperatively. In conclusion, adrenocortical neoplasms in children are rare, but should be considered in the differential diagnosis of Cushing syndrome.

  1. A case of orbital apex syndrome due to Pseudomonas aeruginosa infection

    Directory of Open Access Journals (Sweden)

    Takeshi Kusunoki

    2011-11-01

    Full Text Available Orbital apex syndrome is commonly been thought to have a poor prognosis. Many cases of this syndrome have been reported to be caused by paranasal sinus mycosis. We encountered a very rare case (60-year-old woman of sinusitis with orbital apex syndrome due to Pseudomonas aeruginosa infection. She had received insulin and dialysis for diabtes and diabetic nephropathy, moreover anticoagulants after heart by-pass surgery. She underwent endoscopic sinus operation and was treated with antibiotics, but her loss of left vision did not improve. Recently, sinusitis cases due to Pseudomonas aeruginosa were reported to be a increasing. Therefore, we should consider the possibility of Pseudomonas aeruginosa as well as mycosis as infections of the sinus, especially inpatients who are immunocompromised body.

  2. Radicular dysfunction due to spinal deformities in Marfan syndrome at older age: three case reports.

    NARCIS (Netherlands)

    Voermans, N.C.; Hosman, A.J.F.; Alfen, N. van; Bartels, R.H.M.A.; Kleuver, M. de; Akker, J.W. op den; Engelen, B.G.M. van

    2010-01-01

    Marfan syndrome is a inherited connective tissue disorder due to mutations in fibrillin-1. It presents with cardiovascular, ocular, skeletal, pulmonary and dural signs and symptoms. Some of the symptoms of later onset are those associated with scoliosis and dural ectasia. This is the enlargement of

  3. Anti-Ma-associated encephalitis due to dysgerminoma in a woman with Swyer syndrome.

    Science.gov (United States)

    Al-Thubaiti, Ibtisam; Al-Hayek, Kefah; Binfalah, Mohammed

    2013-04-09

    Paraneoplastic limbic encephalitis (PLE)/diencephalitis associated with anti-Ma2 antibodies was linked to testicular cancer and non-small-cell lung cancer (non-SCLC).(1,2) We report a case of anti-Ma-associated PLE/diencephalitis due to dysgerminoma in a woman with gonadal dysgenesis, or Swyer syndrome.

  4. ''Dropped-head'' syndrome due to isolated myositis of neck extensor muscles: MRI findings

    International Nuclear Information System (INIS)

    Gaeta, Michele; Mazziotti, Silvio; Blandino, Alfredo; Toscano, Antonio; Rodolico, Carmelo; Mazzeo, Anna

    2006-01-01

    MRI findings of a patient with dropped-head syndrome due to focal myositis of the neck extensor muscles are presented. MRI showed oedematous changes and marked enhancement of the neck extensor muscles. After therapy MRI demonstrated disappearance of the abnormal findings. (orig.)

  5. Recombinant 4 syndrome due to an unbalanced pericentric inversion of chromosome 4.

    Science.gov (United States)

    Battaglia, A; Brothman, A R; Carey, J C

    2002-09-15

    An informative patient with a MCA/MR syndrome consisting of developmental delay, prenatal onset growth delay, microcephaly, distinctive face, iris coloboma, and a congenital heart defect was found, on chromosome analysis, to have the following complement: 46,XY,rec(4) dup(4p) inv(4)(p14q35.1) mat. He has a partial 4p trisomy/distal 4q deletion due to an unbalanced pericentric inversion inherited from his mother. Dup (4p) trisomy was originally described by Wilson et al. [1970: Am J Hum Genet 22:679-690] in a similar case with the same chromosome 4 inversion. To date, at least 85 cases of dup (4p) syndrome have been published, mostly due to unbalanced translocations. Recent articles suggest that the phenotype is hard to recognize clinically due to the lack of specificity of findings. In contrast, 4p trisomy due to an unbalanced pericentric inversion of chromosome 4(p14q35), i.e., the recombinant 4 syndrome observed in our patient, appears to be a discrete entity with relatively consistent features. In total there are four other kindreds described in the literature with this inversion, and the phenotype seems recognizable. Thus, we suggest that recombinant 4 syndrome is a discrete entity among 4p trisomy patients. Copyright 2002 Wiley-Liss, Inc.

  6. Maladaptive Behavior Differences in Prader-Willi Syndrome Due to Paternal Deletion versus Maternal Uniparental Disomy.

    Science.gov (United States)

    Dykens, Elisabeth M.; King, Bryan H.; Cassidy, Suzanne B.

    1999-01-01

    This study compared maladaptive behavior in 23 people with Prader-Willi syndrome due to paternal deletion and in 23 age- and gender-matched subjects with maternal uniparental disomy. Controlling for IQs, the deletion cases showed significantly higher maladaptive ratings, more symptom-related distress, and more behavior problems. Findings suggest a…

  7. Cushing's syndrome in infancy due to ectopic ACTH secretion by a sacro-coccygeal teratoma.

    Science.gov (United States)

    Rydzewska, Marta; Krawczuk-Rybak, Maryna; Zajkowska, Adrianna; Jurczuk, Natalia; Polnik, Dariusz; Szalecki, Mieczysław; Moszczyńska, Elżbieta; Savage, Martin O; Bossowski, Artur

    2017-04-01

    Adenocorticotropic hormone (ACTH)-dependent Cushing's syndrome in infancy is extremely rare. We describe the case of a sacro-coccygeal ectopic ACTH-secreting immature teratoma in an infant who also presented the triad of defects characteristic of Currarino syndrome. A girl was born with a large immature teratoma in the sacro-coccygeal region associated with anal atresia. At the age of 7 days, the concentration of α-fetoprotein (AFP) was above the age-specific normal range. Two non-radical surgical excisions of the tumour were performed. At the age of 7 months, she developed polyphagia, acne, hirsutism, hypertension and hypokalemia with elevated ACTH and absence of serum cortisol circadian rhythm. Immunostaining of tumour tissue showed ACTH-immunoreactive cells. Due to unsuccessful therapy with ketoconazole and resistance to antihypertensive medications [blood pressure (BP) 210/160 mmHg], metyrapone was administered, which controlled her ACTH and cortisol levels in the normal range. Following further removal of tumour bulk after three operations during the first year of life, there was a decrease of BP to normal values. A rare case of ectopic ACTH syndrome causing Cushing's syndrome in infancy in the context of Currarino syndrome is reported. Radical surgery has resulted in excision of the tumour and current control of Cushing's syndrome.

  8. Intussusception due to Peutz-Jeghers syndrome - a case report and review of the literature

    International Nuclear Information System (INIS)

    Grasso Filho, Luiz Eduardo; Albertotti, Flavio; Carvalho, Claudio Sobral de; Nersessian, Ana Carolina; Docema, Marcos F. Lima; Ogasawara, Aparecida M.; Peng Yong Sheng; Costacurta, Marco Antonio; Albertotti, Cesar Jose; Cerri, Giovanni Guido

    2000-01-01

    The authors report a case of a 28-year-old woman with ileocecocolic intussusception due to Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by hamartomatous polyposis of the gastrointestinal tract and mucocutaneous pigmentation. This condition frequently presents complications such as intestinal obstruction due to invagination or hemorrhage. In this patient, the diagnosis of intussusception was made preoperatively. The excised material revealed three large polyps which were considered to be the cause of the intussusception. (author)

  9. Guillain-Barré Syndrome due to CMV Reactivation after Cardiac Transplantation

    Directory of Open Access Journals (Sweden)

    Christina Maria Steger

    2012-01-01

    Full Text Available A 40-year-old male patient suffered from end-stage heart failure due to ischemic cardiomyopathy and received orthotopiccardiac transplantation in June 2005. The instantaneous postoperative course was uneventful, but, seven months later, he suffered from paralysis in the lower extremities finally resulting in quadriplegia and was admitted to hospital. After laboratory testings the diagnosis of a Guillain-Barré syndrome due to cytomegalovirus reactivation was confirmed.

  10. Pseudo-acute myocardial infarction due to transient apical ventricular dysfunction syndrome (Takotsubo syndrome).

    Science.gov (United States)

    Maciel, Bruno Araújo; Cidrão, Alan Alves de Lima; Sousa, Italo Bruno Dos Santos; Ferreira, José Adailson da Silva; Messias Neto, Valdevino Pedro

    2013-03-01

    Takotsubo syndrome is characterized by predominantly medial-apical transient left ventricular dysfunction, which is typically triggered by physical or emotional stress. The present article reports the case of a 61-year-old female patient presenting with dizziness, excessive sweating, and sudden state of ill feeling following an episode involving intense emotional stress. The physical examination and electrocardiogram were normal upon admission, but the troponin I and creatine kinase-MB concentrations were increased. Acute myocardial infarction without ST segment elevation was suspected, and coronary angiography was immediately performed, which showed severe diffuse left ventricular hypokinesia, medial-apical systolic ballooning, and a lack of significant coronary injury. The patient was referred to the intensive care unit and was successfully treated with supportive therapy. As this case shows, Takotsubo syndrome might simulate the clinical manifestations of acute myocardial infarction, and coronary angiography is necessary to distinguish between both myocardial infarction and myocardial infarction in the acute stage. The present patient progressed with spontaneous resolution of the ventricular dysfunction without any sequelae.

  11. Assessment of the secondary dosimetric benefit due to the implementation of the IMRT technique for an anal canal cancer; Evaluation du benefice dosimetrique secondaire a la mise en oeuvre de la technique de RCMI dans le cancer du canal anal

    Energy Technology Data Exchange (ETDEWEB)

    Moreau-Claeys, M.V.; Huger, S.; Lostette, J.; Tournier-Rangeard, L.; Boutenbat, G.; Marchesi, V.; Peiffert, D. [Centre Alexis-Vautrin, 54 - Nancy (France)

    2010-10-15

    The authors report a prospective comparison, for a same patient, of delivered doses for the coverage of target volumes and for the protection of organs at risk within the frame of an intensity-modulated conformational irradiation (IMRT) with respect to a conventional conformational radiotherapy for an anal canal cancer. The tumour conformity indexes are compared for the different target volumes. The average received doses are also compared for different organs and bones about the treated area. IMRT ensures a better protection of organs. The authors are developing a dynamic arc therapy approach. Short communication

  12. Iliac Vein Compression Syndrome due to Bladder Distention Caused by Urethral Calculi

    Directory of Open Access Journals (Sweden)

    Akiko Ikegami

    2015-01-01

    Full Text Available We report a rare case of iliac vein compression syndrome caused by urethral calculus. A 71-year-old man had a history of urethral stenosis. He complained of bilateral leg edema and dysuria for 1 week. Physical examination revealed bilateral distention of the superficial epigastric veins, so obstruction of both common iliac veins or the inferior vena cava was suspected. Plain abdominal computed tomography showed a calculus in the pendulous urethra, distention of the bladder (as well as the right renal pelvis and ureter, and compression of the bilateral common iliac veins by the distended bladder. Iliac vein compression syndrome was diagnosed. Bilateral iliac vein compression due to bladder distention (secondary to neurogenic bladder, benign prostatic hyperplasia, or urethral calculus as in this case is an infrequent cause of acute bilateral leg edema. Detecting distention of the superficial epigastric veins provides a clue for diagnosis of this syndrome.

  13. Vertical diplopia and oscillopsia due to midbrain keyhole aqueduct syndrome associated with severe cough

    Directory of Open Access Journals (Sweden)

    Angela Jinsook Oh

    2018-06-01

    Full Text Available Purpose: Midline structural defects in the neural axis can give rise to neuro-ophthalmic symptoms. We report a rare case of keyhole aqueduct syndrome presenting after two years of severe cough due to gastroesophageal reflux disease. Observations: A 58-year-old woman with a 2-year history of daily, severe cough presented to the neuro-ophthalmology clinic with progressive diplopia and oscillopsia. Examination revealed a 1–2 Hz down-beating nystagmus in primary gaze that worsened with left, right, and down gazes. Gaze evoked nystagmus and mild paresis were also seen with up gaze. There was an incomitant left hypertropia due to skew deviation that worsened with right and up gazes and improved with down gaze. She also had a right-sided ptosis and a 3 mm anisocoria not due to cranial nerve 3 paresis or Horner's syndrome. Brain magnetic resonance imaging showed a 1.5 mm × 11.7 mm × 6 mm midline cleft in the ventral midbrain communicating with the cerebral aqueduct, consistent with keyhole aqueduct syndrome. Her nystagmus and diplopia improved with oral acetazolamide treatment, at high doses of 2500–3000 mg per day. Conclusions and importance: We report the first case of midbrain keyhole aqueduct syndrome with ocular motor and other neuro-ophthalmic manifestations associated with severe cough. Although her cough was effectively treated and intracranial pressure measurement was normal, her ophthalmic symptoms continued to progress, which is common in previous cases reported. Treatment with acetazolamide led to significant improvement, supporting the use of acetazolamide in this rare condition. Keywords: Keyhole aqueduct syndrome, Midbrain cleft, Mesencephalic cleft, Syrinx, Syringobulbia, Down-beating nystagmus, Cerebrospinal fluid

  14. Fatal respiratory distress syndrome due to coronavirus infection in a child with severe combined immunodeficiency

    OpenAIRE

    Szczawinska‐Poplonyk, Aleksandra; Jonczyk‐Potoczna, Katarzyna; Breborowicz, Anna; Bartkowska‐Sniatkowska, Alicja; Figlerowicz, Magdalena

    2012-01-01

    Please cite this paper as: Szczawinska‐Poplonyk et al. (2012) Fatal respiratory distress syndrome due to coronavirus infection in a child with severe combined immunodeficiency. Influenza and Other Respiratory Viruses DOI: 10.1111/irv.12059. Coronaviruses have been demonstrated to contribute substantially to respiratory tract infections among the child population. Though infected children commonly present mild upper airway symptoms, in high‐risk patients with underlying conditions, particularl...

  15. The impact of infection on mortality in octogenarians who were admitted due to acute coronary syndrome.

    Science.gov (United States)

    Keskin, Kudret; Çetinkal, Gökhan; Sığırcı, Serhat; Yıldız, Süleyman Sezai; Çetin, Şükrü; Gürdal, Ahmet; Kocaş, Betül Balaban; Kılıçkesmez, Kadriye Orta

    The prevalence of coronary artery disease is on the rise as the life expectancy of the population increases. However, treatment of acute coronary syndrome in the elderly patients has its own problems that have not been thoroughly addressed in the clinical trials. Since these patients are generally fragile and have multiple co-morbidities, the course of acute coronary syndrome can frequently be complicated. Infection, which co-exists either at the initial presentation or is acquired during the hospital stay, is a condition about which there is little published data. Therefore, in our study, we wanted to assess the impact of infection on mortality in octogenarians who have acute coronary syndrome METHODS: We retrospectively analyzed the data of 174 octogenarians who had been admitted to the coronary care unit with acute coronary syndrome. All-cause mortality was defined as the primary endpoint of the study. Overall 53 octogenarian patients (30.5%) had an infection along with acute coronary syndrome. The mean duration of follow-up was 10 months (1-25 months). Both in-hospital and long-term mortality were higher in these patients (18.9% vs 6.6%, p = 0.01; 52.8% vs 27.5%, p < 0.01; respectively). Kaplan-Meier analysis also showed lower cumulative survival. (p [log-rank] = 0.002). In multivariate Cox regression analysis; undergoing coronary angiography, infection (HR 1.96, 95% CI 1.15-3.34, p = 0.01), left ventricular ejection fraction and maximum C reactive protein levels were found as independent predictors of long-term survival. Infection in octogenarians who were admitted due to acute coronary syndrome was frequent and increased their mortality substantially. Copyright © 2018 Elsevier B.V. All rights reserved.

  16. Controversies in the differential diagnosis of Brown-Sequard syndrome due to cervical spinal disease from stroke: A case series

    Directory of Open Access Journals (Sweden)

    Vaner Koksal, M.D.

    2017-09-01

    Full Text Available Stroke is generally considered to be the first preliminary diagnosis in patients presenting with acute hemiparesia in the emergency department. But rarely in unexpected spontaneous neurological pathologies that may lead to hemiparesis. The data from 8 non-traumatic patients who underwent surgical treatment for brown-sequard syndrome (BSS were reviewed retrospectively. All patients were initially misdiagnosed with strokes. Two of the patients had spinal canal stenosis, two had spinal epidural hematomas, one had an ossified herniated disc and three had soft herniated discs. None of the patients complained of significant pain at the initial presentation. All of the patients had a mild sensory deficit that was initially unrecognized. The pain of the patients began to become evident after hospitalization and, patients transferred to neurosurgery department. Cervical spinal pathologies compressing the corticospinal tract in one-half of the cervical spinal canal may present with only hemiparesis, without neck and radicular pain. If it's too late, permanent neurological damage may become inevitable while it is a correctable pathology. Keywords: Brown-Sequard syndrome, Cervical cord, Herniated disc, Spinal epidural hematoma, Stroke

  17. Vertical diplopia and oscillopsia due to midbrain keyhole aqueduct syndrome associated with severe cough.

    Science.gov (United States)

    Oh, Angela Jinsook; Lanzman, Bryan Alexander; Liao, Yaping Joyce

    2018-06-01

    Midline structural defects in the neural axis can give rise to neuro-ophthalmic symptoms. We report a rare case of keyhole aqueduct syndrome presenting after two years of severe cough due to gastroesophageal reflux disease. A 58-year-old woman with a 2-year history of daily, severe cough presented to the neuro-ophthalmology clinic with progressive diplopia and oscillopsia. Examination revealed a 1-2 Hz down-beating nystagmus in primary gaze that worsened with left, right, and down gazes. Gaze evoked nystagmus and mild paresis were also seen with up gaze. There was an incomitant left hypertropia due to skew deviation that worsened with right and up gazes and improved with down gaze. She also had a right-sided ptosis and a 3 mm anisocoria not due to cranial nerve 3 paresis or Horner's syndrome. Brain magnetic resonance imaging showed a 1.5 mm × 11.7 mm × 6 mm midline cleft in the ventral midbrain communicating with the cerebral aqueduct, consistent with keyhole aqueduct syndrome. Her nystagmus and diplopia improved with oral acetazolamide treatment, at high doses of 2500-3000 mg per day. We report the first case of midbrain keyhole aqueduct syndrome with ocular motor and other neuro-ophthalmic manifestations associated with severe cough. Although her cough was effectively treated and intracranial pressure measurement was normal, her ophthalmic symptoms continued to progress, which is common in previous cases reported. Treatment with acetazolamide led to significant improvement, supporting the use of acetazolamide in this rare condition.

  18. Role of anti-thrombotic therapy for recurrent pregnancy loss due to anti-phospholipid syndrome

    International Nuclear Information System (INIS)

    Fawad, S.

    2010-01-01

    Background: Recurrent pregnancy loss is a major health problem effecting 1 to 2% of women of reproductive age. Its causes range from chromosomal abnormalities to endocrinological factors and thrombophilia related factors. Treating thrombophilia s especially anti phospholipid syndrome with low dose aspirin and low molecular weight heparin improves foetal outcome. This study will add local data to already existing knowledge. Method: Sixty selected patients from gynaecology OPD of Aero Hospital with clinical and/or serological findings of anti phospholipid syndrome from February 2009 to January 2011 were given aspirin 75 mg once daily and enoxaparine 40 mg subcutaneously once daily from 6 - 8 weeks to 35 and 37 weeks respectively. Results : Ninety-three percent of patients achieved live birth. Out of these 75% patients delivered at term and 18% had preterm delivered. Four (7%) had early pregnancy loss and only one had early neonatal death due to extreme prematurity. None of patients experienced any major hemorrhagic complications . Conclusion: Use of low dose aspirin and low molecular weight heparin is safe in pregnancy and improve foetal outcome in patients with recurrent pregnancy loss due to anti phospholipids syndrome. (author)

  19. Cushing syndrome in a young woman due to primary pigmented nodular adrenal disease.

    Science.gov (United States)

    Hackman, Kathryn L; Davis, Anna L; Curnow, Paul A; Serpell, Jonathan W; McLean, Catriona A; Topliss, Duncan J

    2010-01-01

    To report a case of Cushing syndrome due to apparently sporadic primary pigmented nodular adrenal disease in a young woman. We describe the clinical, biochemical, radiologic, and histologic findings of Cushing syndrome due to the rare condition of primary pigmented nodular adrenal disease. A 30-year-old woman presented with a 2-year history of worsening itch without rash over her shoulders and arms and weight gain, particularly around the abdomen and face. Careful questioning did not elicit any history of exogenous glucocorticoid use (systemic or topical), including hydrocortisone. On examination, the patient had a slightly rounded and plethoric face, a small buffalo hump, central adiposity, and thin skin with a few small striae on her inner thighs. No features of the Carney complex were observed. Investigations showed hypercortisolism with suppressed corticotropin and normal adrenal imaging despite documentation of enlarged adrenal glands at removal. High-dose dexamethasone administration was followed by a decrease in urinary free cortisol excretion rather than a paradoxical rise as previously reported in primary pigmented nodular adrenal disease. No mutations were detected in the PRKAR1A gene. Primary pigmented nodular adrenal disease should be suspected in patients with corticotropin-independent Cushing syndrome who have normal adrenal imaging. The role of genetic testing in apparently sporadic cases is not established, but cumulative experience may be helpful in defining the frequency of PRKAR1A mutations.

  20. CANAL code

    International Nuclear Information System (INIS)

    Gara, P.; Martin, E.

    1983-01-01

    The CANAL code presented here optimizes a realistic iron free extraction channel which has to provide a given transversal magnetic field law in the median plane: the current bars may be curved, have finite lengths and cooling ducts and move in a restricted transversal area; terminal connectors may be added, images of the bars in pole pieces may be included. A special option optimizes a real set of circular coils [fr

  1. Multiple osteoblastomas in a child with Cushing syndrome due to bilateral adrenal micronodular hyperplasias

    Directory of Open Access Journals (Sweden)

    Hyeoh Won Yu

    2016-03-01

    Full Text Available Adrenocorticotropin-independent adrenal hyperplasias are rare diseases, which are classified into macronodular (>1 cm and micronodular (≤1 cm hyperplasia. Micronodular adrenal hyperplasia is subdivided into primary pigmented adrenocortical disease and a limited or nonpigmented form 'micronodular adrenocortical disease (MAD', although considerable morphological and genetic overlap is observed between the 2 groups. We present an unusual case of a 44-month-old girl who was diagnosed with Cushing syndrome due to MAD. She had presented with spotty pigmentation on her oral mucosa, lips and conjunctivae and was diagnosed with multiple bone tumors in her femur, pelvis and skull base at the age of 8 years. Her bone tumor biopsies were compatible with osteoblastoma. This case highlights the importance of verifying the clinicopathologic correlation in Cushing syndrome and careful follow-up and screening for associated diseases.

  2. Cervical spinal canal stenosis first presenting after spinal cord injury due to minor trauma: An insight into the value of preventive decompression.

    Science.gov (United States)

    Shigematsu, Hideki; Cheung, Jason Pui Yin; Mak, Kin-Cheung; Bruzzone, Mauro; Luk, Keith D K

    2017-01-01

    Patients with pre-existing cervical spinal canal stenosis (CSCS) may have minimal or no symptoms. However, performing preventive decompression is controversial as the incidence of CSCS leading to severe cord injury is unknown. Hence, this study aims to revisit the threshold for surgery in "silent" CSCS by reviewing the neurologic outcomes of patients with undiagnosed CSCS who sustained a cervical spinal cord injury (CSCI). Two groups of subjects were recruited for analysis. Firstly, patients with trauma-induced CSCI without fracture or dislocation were included. Pre-existing CSCS was diagnosed by MRI measurements. The second group consisted of asymptomatic subjects recruited from the general population who also had MRIs performed. Canal sizes were compared between this control group and the patient group. Within the patient group, neurological assessments and outcomes by Frankel classification were performed in patients treated surgically or conservatively. 32 patients with CSCS were recruited. The mean spinal canal sagittal diameter (disc-level) of all CSCS cases was 5.3 ± 1.4 mm (1.3-8.2). In comparison, the diameter was 10.5 ± 1.7 mm (6.6-14.6) in the 47 asymptomatic individuals recruited from the general population. Decompression was performed in 17 patients and conservative treatment in 15. Mean follow-up was 19.3 ± 17.0 months (6-84). At the final follow-up, 3 patients (9.3%) returned to their pre-injury Frankel grade, whereas 26 patients (83.3%) lost one or more neurological grade. Three patients (9.3%) died. Majority of patients with "silent" CSCS who sustained cervical cord injuries did not return to their pre-injury neurological status. All of these subjects have pre-existing canal stenosis hence the risk of cord injury. Given the poor neurological outcome of CSCS, a lower threshold for surgery could be indicated to avoid these disastrous injuries. However, before making any conclusive recommendation we must first identify the prevalence of

  3. Controle postural na síndrome de Pusher: influência dos canais semicirculares laterais Posture control in Pusher syndrome: influence of lateral semicircular canals

    Directory of Open Access Journals (Sweden)

    Taiza Elaine Grespan dos Santos Pontelli

    2005-08-01

    Full Text Available A síndrome de Pusher caracteriza-se por uma alteração do equilíbrio na qual pacientes com lesões encefálicas empurram-se em direção ao lado parético utilizando o membro não-afetado. O papel do sistema vestibular na alteração postural da síndrome de Pusher ainda não foi devidamente elucidado. OBJETIVO: Neste estudo objetivamos avaliar o papel dos canais semicirculares horizontais na expressão clínica da síndrome de Pusher, através da aplicação das provas calórica e rotatória. FORMA DE ESTUDO: Observacional, clínico e prospectivo. MATERIAL E MÉTODO: Avaliamos 9 pacientes com AVC e síndrome de Pusher internados na Enfermaria de Neurologia do HCFMRP-USP. Os pacientes foram submetidos à avaliação neurológica clínica e neuropsicológica, NIHSS, Scale for Contraversive Pushing - SCP, teste calórico e teste rotatório. RESULTADOS: Foram estudados 9 pacientes (5 homens com idade média de 71,8 ± 5,9 anos e com NIHSS médio de 18.33. Três pacientes apresentaram preponderância direcional contralateral à lesão encefálica na prova calórica. Na prova rotatória, foram observados quatro pacientes com preponderância direcional na análise de velocidade da componente lenta. CONCLUSÃO: Os resultados do presente estudo indicam que a disfunção dos canais semicirculares não parece ser fundamental para a expressão da síndrome de Pusher.Pusher syndrome is an interesting disorder of balance in patients with encephalic lesions characterized by the peculiar behavior of actively pushing away from the non-hemiparetic side and resisting against passive correction, with a tendency to fall toward the paralyzed side. The role of vestibular system on the pushing behavior is not clear. AIM: To evaluate horizontal semicircular canal function in patients with Pusher syndrome, using caloric and rotation tests. STUDY DESIGN: Observational prospective. MATERIAL AND METHOD: We evaluated 9 inpatients with stroke and Pusher syndrome at the

  4. Acute cholangitis due to afferent loop syndrome after a Whipple procedure: a case report.

    Science.gov (United States)

    Spiliotis, John; Karnabatidis, Demetrios; Vaxevanidou, Archodoula; Datsis, Anastasios C; Rogdakis, Athanasios; Zacharis, Georgios; Siamblis, Demetrios

    2009-08-25

    Patients with resection of stomach and especially with Billroth II reconstruction (gastro jejunal anastomosis), are more likely to develop afferent loop syndrome which is a rare complication. When the afferent part is obstructed, biliary and pancreatic secretions accumulate and cause the distention of this part. In the case of a complete obstruction (rare), there is a high risk developing necrosis and perforation. This complication has been reported once in the literature. A 54-year-old Greek male had undergone a pancreato-duodenectomy (Whipple procedure) one year earlier due to a pancreatic adenocarcinoma. Approximately 10 months after the initial operation, the patient started having episodes of cholangitis (fever, jaundice) and abdominal pain. This condition progressively worsened and the suspicion of local recurrence or stenosis of the biliary-jejunal anastomosis was discussed. A few days before his admission the patient developed signs of septic cholangitis. Our case demonstrates a rare complication with serious clinical manifestation of the afferent loop syndrome. This advanced form of afferent loop syndrome led to the development of huge enterobiliary reflux, which had a serious clinical manifestation as cholangitis and systemic sepsis, due to bacterial overgrowth, which usually present in the afferent loop. The diagnosis is difficult and the interventional radiology gives all the details to support the therapeutic decision making. A variety of factors can contribute to its development including adhesions, kinking and angulation of the loop, stenosis of gastro-jejunal anastomosis and internal herniation. In order to decompress the afferent loop dilatation due to adhesions, a lateral-lateral jejunal anastomosis was performed between the afferent loop and a small bowel loop.

  5. Vestibular syndrome due to a choroid plexus papilloma in a ferret.

    Science.gov (United States)

    van Zeeland, Yvonne; Schoemaker, Nico; Passon-Vastenburg, Maartje; Kik, Marja

    2009-01-01

    A 6-year-old, castrated male ferret (Mustela putorius furo) was presented with progressive neurological signs consisting of a right-sided head tilt and ataxia. Neurological examination revealed hemiparesis and absence of proprioception on the right side, consistent with central vestibular syndrome. Measurement of blood glucose excluded hypoglycemia due to insulinoma. Contrast-enhanced computed tomography revealed the presence of an intracranial mass, consistent with either granuloma or neoplasia. Palliative treatment with prednisolone yielded no improvement. At postmortem examination, a final diagnosis of a choroid plexus papilloma originating from the fourth ventricle was made. This is the first report of such a tumor in a ferret.

  6. Microangiopathic antiphospholipid antibody syndrome due to anti-phosphatidylserine/prothrombin complex IgM antibody.

    Science.gov (United States)

    Senda, Yumi; Ohta, Kazuhide; Yokoyama, Tadafumi; Shimizu, Masaki; Furuichi, Kengo; Wada, Takashi; Yachie, Akihiro

    2017-03-01

    Herein we describe a case of microangiopathic antiphospholipid syndrome (MAPS) due to anti-phosphatidylserine/prothrombin complex (aPS/PT) IgM antibody successfully treated with rituximab. A significant correlation was observed between the clinical course and the aPS/PT IgM antibody titer, which can rise earlier before the appearance of clinical symptoms. Rituximab can be safely and effectively used for MAPS. Although detection of only aPS/PT IgM antibody is rare, aPS/PT IgM antibody might be associated with the pathogenesis of MAPS and might be a useful marker of disease activity. © 2017 Japan Pediatric Society.

  7. Hypokalemic paralysis due to thyrotoxicosis accompanied by Gitelman′s syndrome

    Directory of Open Access Journals (Sweden)

    S Baldane

    2015-01-01

    Full Text Available A 35-year-old male patient was admitted with fatigue and muscle weakness. He had been on methimazole due to thyrotoxicosis for 2 weeks. Laboratory tests showed overt hyperthyroidism and hypokalemia. Potassium replacement was started with an initial diagnosis of thyrotoxic hypokalemic periodic paralysis. Later on, despite the euthyroid condition and potassium chloride treatment, hypokalemia persisted. Further investigations revealed hyperreninemic hyperaldosteronism. The patient was considered to have Gitelman′s syndrome (GS and all genetic analysis was done. A c. 1145C>T, p.Thr382Met homozygote missense mutation located on solute carrier family 12, member gene 3, exon 9 was detected and GS was confirmed.

  8. [A case of Crow-Fukase syndrome with respiratory failure due to bilateral diaphragmatic paralysis].

    Science.gov (United States)

    Namekawa, Michito; Muramatsu, Shin-ichi; Hashimoto, Ritsuo; Kawakami, Tadataka; Fujimoto, Ken-ichi; Nakano, Imaharu

    2002-07-01

    A 62-year-old man with well-controlled diabetes mellitus developed numbness of the bilateral feet and hands, followed by subacutely progressive weakness and amyotrophy of extremities. He became bed-ridden state, and dyspnea also appeared, so he was referred to our hospital. Physical examination revealed a lean man, with dark-reddish skin pigmentation, crabbed fingers, bilateral pretibial pitting edema, and bristles in extremities. Thoracoabdominal paradoxical respiration was observed and pulmonary vesicular sounds was decreased markedly in the both lungs. Laboratory data revealed hypoproteinemia, abnormalities of endocrine system, but M-protein was not detected. Serum vascular endothelial growth factor level was quite high. Chest radiography revealed elevation of the bilateral diaphragm, the % vital capacity (%VC) was 24%, and arterial blood gas analysis showed marked hypoxia with hypercapnia. These findings suggested that his respiratory failure was induced by bilateral diaphragmatic paralysis caused by bilateral phrenic nerve palsy due to Crow-Fukase syndrome. He became somnolent because of hypercapnic narcosis, so non-invasive positive pressure ventilation (NIPPV) was started. We treated him with intravenous immunoglobulin and oral corticosteroids therapies, and after these therapies, his symptoms were remarkably recovered and NIPPV became unnecessary soon. The most frequent causes of respiratory failure in Crow-Fukase syndrome are pleural effusion and pulmonary hypertension, and only two cases of this syndrome with respiratory failure caused by bilateral diaphragmatic paralysis were reported until now. When the patients with Crow-Fukase syndrome complain of dyspnea, we should take the diaphragmatic paralysis into consideration, which may be improved by appropriate therapies.

  9. Canal rays

    International Nuclear Information System (INIS)

    Goldstein, Eugen

    2010-01-01

    For more than fifty years the German physicist Eugen Goldstein was engaged in an obscure fringe field of physics, on which he has impressed like no other: Electrical gas discharges. Goldstein describes in this book his discovery of canal rays, which has given important impulses for modern atomic physics. For his research Goldstein received the Prix Hebert of the Parisienne Academie des sciences, the Hughes medal, and was repeatedly proposed for the Nobel prize. In Germany for the Jewish scientist the acknowledgement remained far-reachingly refused until after the war.

  10. [Root canal treatment of mandibular first premolar with 4 root canals: a case report].

    Science.gov (United States)

    Liu, Xin-yang; Zhan, Fu-Liang

    2015-10-01

    The mandibular first premolar can be considered one of the most challenging teeth to treat, due to the complexity of its root canal morphology and increased incidence of multiple canals. A case of endodontic treatment of a mandibular first premolar exhibiting a total of 4 distinct root canals and 4 apical foramina was described. Anatomic variation of root canal morphology should be considered in endodontic treatment to ensure a favorable healing outcome, and its identification could be enhanced by careful examination using a dental operating microscope. Obturation of root canals using a warm vertical compaction technique with a highly-radiopaque root canal sealer, such as AH Plus, after careful ultrasonic activated irrigation might allow the flow of sealer into the narrowed but unprepared part of the canal, thereby facilitating optimum chemo-mechanical debridement of the root canal system.

  11. Hepatic Scintigraphic Findings of Budd-Chiari Syndrome due to Inferior Vena Caval Obstruction

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Sung Hoon; Chung, Soo Kyo; Byun, Jae Young; Lee, Sung Yong; Shinn, Kyung Sub; Kim, Choon Yul; Bahk, Yong Whee [Catholic University College of Medicine, Seoul (Korea, Republic of)

    1988-03-15

    Budd-Chiari syndrome (BCS) is a rare clinical entity characterized by post-sinusoidal portal hypertension caused by the obstruction to the hepatic vein outflow. The diagnosis is suggested by hepatic scintigraphy and is usually confirmed by hepatic venography, inferior vena cavography and biopsy. The scintigraphic finding of BCS caused by the obstruction of main hepatic vein has been reported to consist typically of hypertrophy of the caudate lobe with increased radionuclide accumulation. Such a typical finding has been accounted for by the fact that the venous outflow from the caudate lobe is preserved when the main hepatic vein is obstructed. But usually, the hepatic venous outflow from the caudate lobe is also obstructed in BCS due to inferior vena caval obstruction. So hepatic scintigraphic findings of BCS due to inferior vena caval obstruction show different findings as compared with the BCS due to hepatic vein obstruction. We evaluate the hepatic scintigrams of the 13 cases of BCS due to inferior vena caval obstruction and review the literatures. The results are as follows: 1) We cannot observe the caudate lobe hypertrophy with increased uptake, which is known as a classic finding in BCS due to hepatic vein obstruction. 2) The most prominent hepatic scintigraphic findings of BCS are nonhomogenous uptake in the liver with extrahepatic uptake in the all cases. 3) We can see cold areas at the superior aspect of right hepatic lobe in 7 cases (54%). This is a useful finding suggesting BCS due to inferior vena caval obstruction.

  12. Hepatic Scintigraphic Findings of Budd-Chiari Syndrome due to Inferior Vena Caval Obstruction

    International Nuclear Information System (INIS)

    Kim, Sung Hoon; Chung, Soo Kyo; Byun, Jae Young; Lee, Sung Yong; Shinn, Kyung Sub; Kim, Choon Yul; Bahk, Yong Whee

    1988-01-01

    Budd-Chiari syndrome (BCS) is a rare clinical entity characterized by post-sinusoidal portal hypertension caused by the obstruction to the hepatic vein outflow. The diagnosis is suggested by hepatic scintigraphy and is usually confirmed by hepatic venography, inferior vena cavography and biopsy. The scintigraphic finding of BCS caused by the obstruction of main hepatic vein has been reported to consist typically of hypertrophy of the caudate lobe with increased radionuclide accumulation. Such a typical finding has been accounted for by the fact that the venous outflow from the caudate lobe is preserved when the main hepatic vein is obstructed. But usually, the hepatic venous outflow from the caudate lobe is also obstructed in BCS due to inferior vena caval obstruction. So hepatic scintigraphic findings of BCS due to inferior vena caval obstruction show different findings as compared with the BCS due to hepatic vein obstruction. We evaluate the hepatic scintigrams of the 13 cases of BCS due to inferior vena caval obstruction and review the literatures. The results are as follows: 1) We cannot observe the caudate lobe hypertrophy with increased uptake, which is known as a classic finding in BCS due to hepatic vein obstruction. 2) The most prominent hepatic scintigraphic findings of BCS are nonhomogenous uptake in the liver with extrahepatic uptake in the all cases. 3) We can see cold areas at the superior aspect of right hepatic lobe in 7 cases (54%). This is a useful finding suggesting BCS due to inferior vena caval obstruction.

  13. Eosinophilic myocarditis due to Churg-Strauss syndrome with markedly elevated eosinophil cationic protein.

    Science.gov (United States)

    Hara, Tomoya; Yamaguchi, Koji; Iwase, Takashi; Kadota, Muneyuki; Bando, Mika; Ogasawara, Kozue; Bando, Sachiko; Ise, Takayuki; Niki, Toshiyuki; Ueda, Yuka; Tomita, Noriko; Taketani, Yoshio; Yamada, Hirotsugu; Soeki, Takeshi; Wakatsuki, Tetsuzo; Sata, Masataka

    2013-01-01

    A 67-year-old woman with asthma visited our hospital with increasing dyspnea and new-onset paresthesia and purpura in her legs. Physical examination showed a wheeze, pretibial edema, and surrounding purpura. Chest X-rays showed cardiac decompensation and an electrocardiogram revealed a new ST-T change. Laboratory data showed leukocytosis, hypereosinophilia (10,450/μL), troponin T(+), elevated BNP, and markedly elevated eosinophil cationic protein (ECP) (> 150 ng/mL). Echocardiography revealed diffuse left ventricular hypokinesis (ejection fraction 30%) with increased wall thickness. Coronary angiography was normal. Cardiac magnetic resonance imaging implied diffuse myocardial edema and subendocardial late gadolinium enhancement. Skin biopsy of purpura showed superfi cial perivascular dermatitis with remarkable eosinophilic infiltrations. No evidence of drug allergies, parasitic infection, or myeloproliferative disorder was detected. Based on these findings, a diagnosis of eosinophilic myocarditis due to Churg-Strauss syndrome was considered. She was administered prednisolone at a dose of 1 mg/kg, cyclophosphamide, and diuretics. Several markers of eosinophilic myocarditis and heart failure gradually improved, including ECP. She was discharged 30 days later with no cardiac event. Eosinophilic myocarditis is characterized by predominantly eosinophilic infi ltration. Eosinophilic granule proteins, such as ECP and major basic protein, play important roles in the pathogenesis of eosinophilic myocarditis. We experienced a rare case of eosinophilic myocarditis due to Churg-Strauss syndrome. Markedly elevated ECP played an important role in the early diagnosis and subsequent reduction in ECP served as a marker of monitoring. In an asthmatic patient with dyspnea, hypereosinophilia, and vasculitis, Churg-Strauss syndrome with eosinophilic myocarditis should be considered.

  14. Letter to Editor: Carpal tunnel syndrome due to an atypical deep soft tissue leiomyoma: The risk of misdiagnosis and mismanagement

    Directory of Open Access Journals (Sweden)

    Caliandro Pietro

    2008-02-01

    Full Text Available Abstract A response to Chalidis et al: Carpal tunnel syndrome due to an atypical deep soft tissue leiomyoma: The risk of misdiagnosis and mismanagement. World J Surg Oncol 2007, 5:92.

  15. Skin vasomotor hemiparesis followed by overactivity: characteristic thermography findings in a patient with Horner syndrome due to spinal cord infarction.

    Science.gov (United States)

    Kobayashi, Makoto

    2016-04-01

    We present a 21-year-old female with Horner syndrome due to spinal cord infarction. In this patient, infrared thermography revealed a hemibody skin temperature increase followed by excessive focal decreases, indicating skin vasomotor hemiparesis and overactivity.

  16. Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction.

    Science.gov (United States)

    Gyftodimou, J; Karadima, G; Pandelia, E; Vassilopoulos, D; Petersen, M B

    1999-06-01

    We report a case of Angelman syndrome (AS) with paternal uniparental disomy (pUPD) of chromosome 15. This 6-year-old girl with overgrowth had frequent, but only provoked laughter, was mildly ataxic with limb hypertonia, and had no intelligible speech. She had deep-set eyes, protruding tongue, and prominent chin. The karyotype was normal. DNA analysis with microsatellites from chromosome 15 showed no inheritance of maternal alleles both within and outside the AS critical region. Proximal markers showed reduction to homozygosity of paternal alleles, intermediate markers showed nonreduction, and distal markers reduction, thus suggesting a meiosis II nondisjunction event in the father with two crossovers. This is, to our knowledge, the first reported case of AS due to meiosis II nondisjunction. We present detailed physical measurements in this patient, adding to the clinical description of the milder phenotype in AS due to pUPD.

  17. Severe jaundice due to coexistence of Dubin-Johnson syndrome and hereditary spherocytosis: a case report.

    Science.gov (United States)

    Korkmaz, Uğur; Duman, Ali Erkan; Oğütmen Koç, Deniz; Gürbüz, Yeşim; Dındar, Gökhan; Ensaroğlu, Fatih; Sener, Selçuk Yusuf; Sentürk, Omer; Hülagü, Sadettin

    2011-08-01

    Dubin-Johnson syndrome is a chronic, benign, intermittent jaundice, mostly of conjugated hyperbilirubinemia. The level of bilirubin is not expected to be more than 20 mg/dl in this syndrome. In this article, we report a patient who was evaluated for hyperbilirubinemia and liver function test abnormalities and diagnosed with Dubin-Johnson syndrome coexisting with hereditary spherocytosis. We suggest that other diseases should be investigated if patients with Dubin-Johnson syndrome present with severe hyperbilirubinemia. Dubin-Johnson syndrome accompanied by hemolytic diseases might also have high coproporphyrin levels (as in Rotor's syndrome) than expected in pure Dubin-Johnson syndrome.

  18. Refeeding syndrome in a patient with advanced kidney failure due to nephronophthisis.

    Science.gov (United States)

    El-Reshaid, Kamel

    2013-11-01

    Refeeding syndrome (RS) is a serious and potentially fatal disorder. It is caused by a shift of fluids, sodium, potassium, magnesium and phosphorus as well changes in the metabolism of glucose, protein, fat and vitamins following the refeeding of malnourished patients, whether enterally or parenterally. RS has rarely been reported in patients with advanced kidney disease probably due to the pre-existing hyperphosphatemia, hypermagnesemia and hyperkalemia in these patients. In the following report, we present a patient with nephronophthisis type 1 deletion syndrome in whom her main previous nutrition was limited to simply rehydration to avoid renal replacement therapy. On presentation, she was cachectic and dehydrated with advanced kidney failure. She was treated with medical nephrectomy using non-steroidal anti-inflammatory drugs and then placed on maintenance hemodialysis. Percutaneous endoscopic gastrostomy was used for her initial feeding. Care was exercised during her early refeeding with regard to correction of fluids and essential electrolytes, viz. potassium, phosphorus and magnesium, as well as multivitamins to avoid the cardiovascular and neurological complications of RS. However, the changes in the gut, pancreas and liver as well as her hyperlipidemia were a clear obstacle. Fortunately, the ileus and pancreatitis she developed on refeeding improved dramatically with a decrease of the feeding dose to half; however, the liver abnormalities and hyperlipidemia were severe and slow to recover. These improved after addition of ursodeoxycholic acid and permitted successful increase of the dose of feeding subsequently.

  19. Refeeding syndrome in a patient with advanced Kidney failure due to Nephronophthisis

    Directory of Open Access Journals (Sweden)

    Kamel El-Reshaid

    2013-01-01

    Full Text Available Refeeding syndrome (RS is a serious and potentially fatal disorder. It is caused by a shift of fluids, sodium, potassium, magnesium and phosphorus as well changes in the metabolism of glucose, protein, fat and vitamins following the refeeding of malnourished patients, whether enterally or parenterally. RS has rarely been reported in patients with advanced kidney disease probably due to the pre-existing hyperphosphatemia, hypermagnesemia and hyperkalemia in these patients. In the following report, we present a patient with nephronophthisis type 1 deletion syndrome in whom her main previous nutrition was limited to simply rehydration to avoid renal replacement therapy. On presentation, she was cachectic and dehydrated with advanced kidney failure. She was treated with medical nephrectomy using non-steroidal anti-inflammatory drugs and then placed on maintenance hemodialysis. Percutaneous endoscopic gastrostomy was used for her initial feeding. Care was exercised during her early refeeding with regard to correction of fluids and essential electrolytes, viz. potassium, phosphorus and magnesium, as well as multivitamins to avoid the cardiovascular and neurological complications of RS. However, the changes in the gut, pancreas and liver as well as her hyperlipidemia were a clear obstacle. Fortunately, the ileus and pancreatitis she developed on refeeding improved dramatically with a decrease of the feeding dose to half; however, the liver abnormalities and hyperlipidemia were severe and slow to recover. These improved after addition of ursodeoxycholic acid and permitted successful increase of the dose of feeding subsequently.

  20. Corticosteroid-induced asthma: a manifestation of limited hyperinfection syndrome due to Strongyloides stercoralis.

    Science.gov (United States)

    Sen, P; Gil, C; Estrellas, B; Middleton, J R

    1995-09-01

    Inadequate therapeutic response to parenteral corticosteroids in patients with acute bronchial asthma is infrequent. We report four patients whose bronchial asthma symptoms worsened after treatment with parenteral corticosteroids. All had larvae of Strongyloides stercoralis in the stool. The new attack or the exacerbation of asthma appeared to be precipitated by systemic corticosteroid administration. The paradoxic therapeutic response of asthma to glucocorticoides was the major pulmonary manifestation of Strongyloides superinfection; there was no evidence of other organ involvement. Individuals with new onset of bronchial asthma or worsening of asthmatic episodes concurrent with the use of systemic corticosteroids should have thorough investigation for possible superinfection due to Strongyloides stercoralis. This is particularly important for patients who have resided in areas where intestinal helminthic infections are endemic. Discontinuance of steroid therapy or reduction in dosage of parenteral steroids appears necessary. Treatment with thiabendazole appears to be effective in patients with limited hyperinfection syndrome.

  1. Septic Shock due to Cytomegalovirus Infection in Acute Respiratory Distress Syndrome after Falciparum Malaria.

    Science.gov (United States)

    Harbarth; Meyer; Grau; Loutan; Ricou

    1997-09-01

    Incidence of falciparum malaria in developed countries has increased in recent years due to tourism to tropical countries and immigration from Asia and Africa. In Switzerland, about 250 cases of malaria were reported in 1994 to the Federal Office of Health, including three cases with fatal outcome.1 The most commonly described complications of plasmodia infection are cerebral malaria, acute renal failure, and severe anemia with disseminated intravascular coagulation. However, pulmonary involvement occurs in 3 to 10% of cases and represents the most serious complication of this infection, with a lethality of 70%.2,3 Furthermore, a pronounced general immunosuppression has been reported in malaria patients, which may predispose them to opportunistic infections.4 We report a case of Plasmodium falciparum infection complicated by severe acute respiratory distress syndrome (ARDS) with development of systemic cytomegalovirus (CMV) infection leading to death. This evolution implies a severe immune deficiency associated with malaria, as previously suggested in the literature.

  2. Root canal irrigants

    OpenAIRE

    Kandaswamy, Deivanayagam; Venkateshbabu, Nagendrababu

    2010-01-01

    Successful root canal therapy relies on the combination of proper instrumentation, irrigation, and obturation of the root canal. Of these three essential steps of root canal therapy, irrigation of the root canal is the most important determinant in the healing of the periapical tissues. The primary endodontic treatment goal must thus be to optimize root canal disinfection and to prevent reinfection. In this review of the literature, various irrigants and the interactions between irrigants are...

  3. Association between anxiety and depression in patients with acute coronary syndromes due to financial crisis.

    Science.gov (United States)

    Lampropoulos, Kostandinos; Kavvouras, Charalampos; Megalou, Aikaterini; Tsikouri, Pinelopi; Kafkala, Chrysanthi; Derka, Dimitra; Bonou, Maria; Barbetseas, John

    2016-01-01

    The effect of anxiety and depression on patients with acute coronary syndromes (ACS) warrants investigation, especially during periods of economic crisis. To investigate the relation between anxiety and depression in patients presenting with ACS due to financial crisis and to investigate whether these two entities could predict long-term cardiovascular mortality. Anxiety and depression symptoms were assessed in 350 patients (210 men) presenting with ACS, with 70 (20%) patients showing elevated scores (Hellenic Heart Failure Protocol). Over a mean follow-up of 48 months there were 36 (10%) cardiovascular deaths. Cox proportional hazards models adjusted for other prognostic factors (including age, sex, marital status, creatinine levels, left ventricular ejection fraction, heart failure, atrial fibrillation, previous hospitalisation, and baseline medications) showed that elevated anxiety and depression scores significantly predicted cardiovascular mortality (primary outcome) and all-cause mortality. Elevated anxiety and depression symptoms are related to cardiovascular mortality due probably to financial crisis, even after adjustment for other prognostic indicators in patients with ACS, who received optimised medical treatment.

  4. Gender differences in patients starting long-term home mechanical ventilation due to obesity hypoventilation syndrome.

    Science.gov (United States)

    Palm, Andreas; Midgren, Bengt; Janson, Christer; Lindberg, Eva

    2016-01-01

    Obesity hypoventilation syndrome (OHS) is often diagnosed late. The aim of this study was to analyse gender differences at initiation of long-term mechanical ventilation (LTMV) in patients with (OHS), to analyse gender differences in treatment effect and to study how the prescription of LTMV due to OHS has changed over time. Data on patients on LTMV due to OHS between 1996 and 2014 were obtained from Swedevox, a nationwide health quality registry of patients on LTMV in Sweden. When starting LTMV, women were generally older (age 64.4 ± 11.2 vs. 60.1 ± 12.1 years, p obese (BMI 43.0 ± 8.2 vs. 41.5 ± 7.9 kg/m2, p differ. During the study period, the age of patients at the initiation of LTMV rose by 3.4 years/decade (P = 0.001) in women and with 1.9 years/decade (P = 0.048) in men but there were no significant changes in BMI (P = 0.425). Diagnosis of OHS is more delayed in women and as a consequence the disease is more advanced when diagnosed. In spite of this, there is no gender difference in survival rate in patients with OHS treated with LTMV. More and older patients with OHS nowadays gain access to LTMV. Copyright © 2015 Elsevier Ltd. All rights reserved.

  5. The Compartment Syndrome Associated with Deep Vein Thrombosis due to Rattlesnake Bite: A Case Report

    Directory of Open Access Journals (Sweden)

    Radu Ciprian Tincu

    2017-08-01

    Full Text Available Background: Snakebite is a health issue specific to some parts of the world, especially in the tropical area, where it produces many victims. The main clinical damage caused by snake bite involves hemotoxic, neurotoxic and myotoxic reactions. It is also established that the importance of systemic impairment varies according to individual factors and are related to organ dysfunction, shock or hypotension. We report the case of a young woman suffering from snakebite who developed deep vein thrombosis and compartment syndrome. Case Report: We present the case of a 32-year-old Romanian woman who was injured by her own Crotalinae snake (also known as pit viper or rattlesnake on her left forearm. When admitted to our Emergency Department, she was conscious with a Glasgow coma scale of 12/15, somnolent, febrile, suffering of headache, tachypnea; the marks of the snakebite were located in the distal part of the anterior left forearm; she had pain and bleeding at the bite site and swelling of the left upper limb with lymphangitis up to the axilla. She experienced fasciotomy-requiring compartment syndrome of the upper limb and required unfractionated heparin and closed monitored using activated partial thromboplastin time evolution due micro-thrombosis in the brachial vein. Local improvement was achieved in the next 4 days with progressive diminish of local tenderness and swelling. Conclusion: Limb deep vein thrombosis might be induced by snakebite, despite pro-hemorrhagic general condition induced by the envenomation. High index of clinical suspicion is needed for early diagnosis and timely management which can improve survival of these patients

  6. Sensory Loss Mimicking Cauda Equina Syndrome due to Cervical Spinal Lesion in a Patient with Clinically Isolated Syndrome

    OpenAIRE

    Vinceti, Giulia; Zini, Andrea; Nichelli, Paolo; Mandrioli, Jessica

    2012-01-01

    We describe the case of a 39-year-old woman with signs and symptoms suggesting cauda equina syndrome. Lumbosacral magnetic resonance imaging (MRI) demonstrated no lesion at this level, while cervical MRI showed a T2-hyperintense lesion in the middle-right anterolateral region of the cervical spinal cord, which may explain the symptoms by involving the anterior spinothalamic tract. We suggest that in cases with cauda equina syndrome presentation and normal lumbosacral MRI, a cervicodorsal lesi...

  7. [Good's syndrome and congenital toxoplasmosis due to maternal reactivation during pregnancy].

    Science.gov (United States)

    Tahiri, J; Fouyssac, F; Morel, O; Maatouk, A

    2017-05-01

    Good syndrome is a rare condition in which thymoma is associated with hypogammaglobulinemia. It is characterized by an increased susceptibility to infections. We report a woman with Good's syndrome diagnosed after severe congenital toxoplasmosis in her daughter, even though she was immunized against this infection during pregnancy. This presentation is very unusual by its early diagnosis and to our knowledge is the first report of parasitic infection in this syndrome. Copyright © 2016. Published by Elsevier SAS.

  8. Trauma due to Self-aggression in Patient with Waardenburg Syndrome associated with Congenital Anomalies.

    Science.gov (United States)

    Marta, Sara Nader; Kawakami, Roberto Yoshio; Sgavioli, Claudia Almeida Prado Piccino; Correa, Ana Eliza; D'Árk de Oliveira El Kadre, Guaniara; Carvalho, Ricardo Sandri

    2016-08-01

    Waardenburg syndrome (WS) is an inherited autosomal dominant genetic disorder presenting variable penetrance and expressivity, with an estimated prevalence of 1:42,000. Clinical characteristics of WS include lateral displacement of the internal eye canthus, hyperplasia of the medial portion of the eyebrows, prominent and broad nasal base, congenital deafness, pigmentation of the iris and skin, and white forelock. A 24-year-old male patient, previously diagnosed with WS, was referred to the Special Needs Dental Clinic of Sacred Heart University, Bauru, Brazil. Parents reported that the patient was experiencing self-mutilation, particularly in the oral region. He presented multiple congenital anomalies, including anophthalmia, mental retardation, low-set ears, and leg deformities. Clinical oral examination revealed hypodontia, abnormalities in dental morphology, extensive dental caries, periodontal disease, and fistulae. Extensive scars on the tongue, lips, and hands caused by self-mutilation were also observed. In accordance with his family and neurologist, full-mouth extraction under general anesthesia was performed, especially considering his severe self-aggressive behavior and the necessity to be fed with soft-food diet due to his inability to chew. After the surgical procedure, a significant reduction in the patient's irritability and gain of weight were reported in the follow-ups of 30, 60, and 180 days.

  9. Assessment of the Personal Losses Suffered by Correctional Officers due to Burnout Syndrome.

    Science.gov (United States)

    Stoyanova, R G; Harizanova, S N

    2016-01-01

    Professional burnout is defined as a state of depletion and loss of motivation accompanied by different mental and physical symptoms. To assess personal losses suffered by correctional officers due to burnout. This cross-sectional study conducted between June and December 2012 included 201 correctional officers in two Bulgarian prisons. The mean age of the whole group was 41.2 (SD 8.0) years. The respondents was mostly male (56.7%), married (72.6%), had a secondary educational level (61.7%), and 76.1% of them had been in current prison work over 5 years. The demographic characteristics had no influence on the occurrence of burnout but there was a correlation between level of burnout and the number of sick-leaves, the need for medical help, and the expenses spent on medications. Officers affected by burnout took more sick-leaves and this affected adversely their remuneration as they lost 3.1% of their annual wages. Their expenses spent on user fees for medical services were 3 times higher. Their monthly expenses spent on medications were 3.14 times higher than those of people without the burnout syndrome. The high level of burnout has a negative personal economic effect on the prison employees.

  10. Recurrent Syncope Due to Carotid Sinus Hypersensitivity and Sick Sinus Syndrome

    Directory of Open Access Journals (Sweden)

    Feng-Yu Kuo

    2008-10-01

    Full Text Available Syncope is a sudden and brief loss of consciousness with postural tone. Its recovery is usually spontaneous. There are various causes of syncope including cardiac, vascular, neurologic, metabolic and miscellaneous origins. The tracing is usually time-consuming and costly. The diagnosis of carotid sinus syncope may sometimes be difficult since the symptoms are nonspecific, especially in older persons. Here, we report the case of a 72-year-old woman who sought medical attention at our hospital due to repeated syncope episodes over the previous 5 years. Neurologic examinations showed negative results (including brain computed tomography. Twenty-four-hour ambulatory electrocardiogram monitoring showed atrial and ventricular premature contractions only. Electrophysiologic study disclosed prolonged corrected sinus node recovery time (1,737 ms with poor atrioventricular conduction. Drop of blood pressure together with sinus bradycardia developed after left side carotid sinus massage. Both carotid sinus hypersensitivity with sick sinus syndrome contributed to this patient's syncope, and after pacemaker placement together with selective serotonin reuptake inhibitor treatment, she was free from syncope thereafter.

  11. [A case of occupational contact urticaria and oral allergy syndrome due to seafood].

    Science.gov (United States)

    Yamaguchi, Junko; Inomata, Naoko; Hirokado, Michiko; Shimakura, Kuniyoshi; Shiomi, Kazuo; Ikezawa, Zenro

    2007-01-01

    A 20-year-old woman was referred for evaluation after about 2 years of recurrent episodes of localized urticaria during handling of several kinds of raw fish in a sushi shop, where she had worked part-time for 2 years. She had also experienced allergic symptoms such as itching and swelling of her lips, generalized urticaria, laryngeal tightness, stridor and dyspnea immediately after ingestion of raw and cooked seafood, including sole, horse mackerel, sea eel and shellfish, over the previous 1 year before referral. Skin prick tests and blood test for specific IgE antibodies were positive for many kinds of seafood, including sole, horse mackerel, sea eel, eel, crab, and abalone, which belonged to different taxonomic phyla, including Chordata, Arthropoda, and Mollusca. A challenge with a piece of broiled sole induced swelling of the lips, obstruction of the larynx, difficulty with deglutition, and abdominal pain. In addition, serum-specific IgE antibodies to two major fish allergens, parvalbumin and collagen, were detected by ELISA, suggesting that allergic symptoms could be induced by many kinds of seafood in the present patient. She was therefore diagnosed with occupational contact urticaria and oral allergy syndrome due to seafood. At the time of this report, the present patient had been followed for one year and no reactions have occurred since she started to avoid the causative types of seafood.

  12. Autoimmune manifestations in SCID due to IL7R mutations: Omenn syndrome and cytopenias.

    Science.gov (United States)

    Zago, Claudia Augusta; Jacob, Cristina Miuki Abe; de Albuquerque Diniz, Edna Maria; Lovisolo, Silvana Maria; Zerbini, Maria Claudia Nogueira; Dorna, Mayra; Watanabe, Letícia; Fernandes, Juliana Folloni; Rocha, Vanderson; Oliveira, João Bosco; Carneiro-Sampaio, Magda

    2014-07-01

    B+NK+SCID (severe combined immunodeficiency) due to IL7Rα deficiency represents approximately 10% of American SCID cases. To better understand the spectrum of autoimmune disorders associated with IL7Rα deficiency, we describe two unrelated IL7Rα-deficient female SCID infants whose clinical picture was dominated by autoimmune manifestations: one with intrauterine Omenn syndrome (OS) and another with persistent thrombocytopenic purpura since 4months of age. The OS baby harbored a homozygous p.C118Y mutation in IL7R. She presented dense eosinophilic infiltrates in several organs, including pancarditis, which may have contributed to her death (on the 2nd day of life). B cells were observed in lymph nodes, spleen, bone marrow and thymus. The second patient harbored compound heterozygous p.C118Y and p.I121NfsX8 mutations. She underwent a successful unrelated cord blood transplant. In conclusion, early OS can be observed in patients with IL7R mutations, and autoimmune cytopenias could also complicate the clinical course of SCID babies with this type of defect. Copyright © 2014. Published by Elsevier Inc.

  13. Assessment of the Personal Losses Suffered by Correctional Officers due to Burnout Syndrome

    Directory of Open Access Journals (Sweden)

    RG Stoyanova

    2016-01-01

    Full Text Available Background: Professional burnout is defined as a state of depletion and loss of motivation accompanied by different mental and physical symptoms. Objective: To assess personal losses suffered by correctional officers due to burnout. Methods: This cross-sectional study conducted between June and December 2012 included 201 correctional officers in two Bulgarian prisons. The mean age of the whole group was 41.2 (SD 8.0 years. The respondents was mostly male (56.7%, married (72.6%, had a secondary educational level (61.7%, and 76.1% of them had been in current prison work over 5 years. Results: The demographic characteristics had no influence on the occurrence of burnout but there was a correlation between level of burnout and the number of sick-leaves, the need for medical help, and the expenses spent on medications. Officers affected by burnout took more sick-leaves and this affected adversely their remuneration as they lost 3.1% of their annual wages. Their expenses spent on user fees for medical services were 3 times higher. Their monthly expenses spent on medications were 3.14 times higher than those of people without the burnout syndrome. Conclusion: The high level of burnout has a negative personal economic effect on the prison employees.

  14. Congenital hypothyroidism due to ectopic sublingual thyroid gland in Prader-Willi Syndrome: a case report.

    Science.gov (United States)

    Bocchini, Sarah; Fintini, Danilo; Grugni, Graziano; Boiani, Arianna; Convertino, Alessio; Crinò, Antonino

    2017-09-22

    Thyroid gland disorders are variably associated with Prader-Willi syndrome (PWS). Many of the clinical features in newborns with PWS are similar to those found in congenital hypothyroidism (CH). We report a case of a girl with CH and PWS. At the age of 9 months CH caused by an ectopic sublingual thyroid was diagnosed, and hormone replacement therapy was started. In spite of this treatment a decrease in growth velocity, weight excess and delayed development were observed. At the age of 9 years PWS was suspected on the basis of phenotype and genetic tests confirmed a maternal uniparental disomy of chromosome 15. This is the second reported case of hypothyroidism due to an ectopic sublingual thyroid gland in PWS suggesting that, although rare, an association between CH and PWS may exist. In our case diagnosis of PWS was delayed because mental retardation, hypotonia, obesity and short stature were initially attributed to hypothyroidism. In this context PWS should be considered in obese children with CH who do not improve adequately with l-thyroxine therapy. Also, thyroid function in all PWS children should be assessed regularly in order to avoid delayed diagnosis of hypothyroidism.

  15. Sudden Cardiac Arrest due to Brugada Syndrome: a Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    R Soleimanirad

    2013-04-01

    Full Text Available Brugada Syndrome is a rare cause of sudden cardiac arrest and has a unique ECG pattern. In fact, with ST-segment elevation down sloping in the right precordial leads (v1-v3, RBBB pattern in lateral leads and J-point elevation is revealed. We must notice and avoid trigger factors of this syndrome during general anesthesia. Patient is a 39 old man who attended to emergency department with sudden cardiac arrest and resuscitate. He was transferred to ICU for management of hypoxic ischemic encephalopathy. Complementary studies concluded the diagnosis of Brugada syndrome. We must consider Brugada syndrome within patients with family history of sudden cardiac arrest. Moreover, we must avoid trigger factors of this syndrome such as fever, bradicardia and electrolyte abnormality (specialy Na, Ca abnormalities during general anesthesia and if they appear, we should treat them.

  16. ''Dropped-head'' syndrome due to isolated myositis of neck extensor muscles: MRI findings

    Energy Technology Data Exchange (ETDEWEB)

    Gaeta, Michele; Mazziotti, Silvio; Blandino, Alfredo [University of Messina, Department of Radiological Sciences, Messina (Italy); Toscano, Antonio; Rodolico, Carmelo; Mazzeo, Anna [University of Messina, Department of Neurosciences, Psychiatry and Anaesthesiology, Messina (Italy)

    2006-02-15

    MRI findings of a patient with dropped-head syndrome due to focal myositis of the neck extensor muscles are presented. MRI showed oedematous changes and marked enhancement of the neck extensor muscles. After therapy MRI demonstrated disappearance of the abnormal findings. (orig.)

  17. Anthropometry in Klinefelter syndrome - multifactorial influences due to CAG length, testosterone treatment and possibly intrauterine hypogonadism

    DEFF Research Database (Denmark)

    Chang, Simon; Skakkebæk, Anne; Trolle, Christian

    2015-01-01

    Lægmandsresume: Kropsmålene hos mænd med Klinefelter syndrom afhænger af genetiske forhold, testosteronbehandling og muligvis testosteronniveauet i fosterlivet. Kun omkring 25-40% af de som fødes med Klinefelter syndrom, får nogensinde stillet diagnosen. Dette kan til dels skyldes, at det kan være...... særdeles vanskeligt at skelne mænd med Klinefelter syndrom fra mænd uden Klinefelter syndrom. Vi har (derfor) gennemført et studie med henblik på at sammenligne en lang række forskellige kropsmål imellem mænd med- og uden Klinefelter syndrom. Vi sammenholdt desuden kropsmålene med forskellige blodprøvesvar...... på bl.a. niveauet af kønshormoner. Vi undersøgte også om genetiske forhold relateret til det ekstra X-kromosom havde nogen effekt på kropsmålene. I alt undersøgte vi 73 mænd med Klinefelter syndrom og 73 mænd uden Klinefelter syndrom. Vi målte en lang række kropsmål som fx benlængde, livvidde mf. Vi...

  18. IGF-I generation test in prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene.

    Science.gov (United States)

    Bertelloni, Silvano; Baroncelli, Giampiero I; Dati, Eleonora; Ghione, Silvia; Baldinotti, Fulvia; Toschi, Benedetta; Simi, Paolo

    2013-01-01

    Short stature represents one of the main features of children with Noonan syndrome. The reason for impaired growth remains largely unknown. To assess GH and IGF1 secretion in children with Noonan syndrome. 12 prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene [7 males, 6 females; median age, years: 8.6 (range 5.1-13.4)] were studied; 12 prepubertal children with short stature (SS) [7 males, 5 females; median age, years: 8.1 (range 4.8-13.1)] served as the control group. GH secretion after arginine stimulation test; IGF1 generation test by measurement of IGF1 levels before and after recombinant GH (rGH) administration (0.05 mg/kg/day for 4 days). Baseline and stimulated peak values of GH were not significantly different between the two groups. At +120 minutes, GH levels remained significantly higher (p = 0.0121) in comparison with baseline values in children with Noonan syndrome. Baseline IGFI levels in patients and in SS controls were not significantly different, in contrast to values after the rGH generation test [205 ng/mL (interquartiles 138.2-252.5 ng/mL) and 284.5 ng/mL (interquartiles 172-476 ng/mL), respectively; p = 0.0248]. IGF1 values were significantly related to height (baseline: r = 773, p = 0.0320; peak: r = 0.591, p = 0.0428) in children with Noonan syndrome. Blunted increase of IGF1 after the rGH generation test was present in children with Noonan syndrome due to mutations in the PTPN11 gene in comparison with SS children. This finding may be due to partial GH resistance in the former likely related to altered Ras-MAPK signaling pathway.

  19. Occult Breast Cancer due to Multiple Calcified Hamartomas in a Patient with Cowden Syndrome

    NARCIS (Netherlands)

    Gomez Garcia, E.B.; Lobbes, M.B.; van de Vijver, K.; Keymeulen, K.; van der Ent, F.; Yntema, H.G.; Tjan-Heijnen, V.C.; Boetes, C.

    2012-01-01

    Cowden syndrome (CS) is an autosomal dominant disorder characterized by presence of multiple hamartomas, and other benign and malignant abnormalities of the breasts, skin, thyroid, endometrium, gastrointestinal tract, and central nervous system. Hamartomas are benign, developmentally disorganized

  20. Immunoglobulins of patients with Cushing's syndrome due to pigmented adrenocortical micronodular dysplasia stimulate in vitro steroidogenesis

    NARCIS (Netherlands)

    Wulffraat, N. M.; Drexhage, H. A.; Wiersinga, W. M.; van der Gaag, R. D.; Jeucken, P.; Mol, J. A.

    1988-01-01

    The putative stimulation of adrenal steroid production by immunoglobulins (Igs) of five patients with pigmented adrenocortical micronodular dysplasia and clinical Cushing's syndrome was investigated. Ascorbate depletion, a process linked to steroid production, was measured by a cyto-chemical

  1. Anton’s Syndrome due to Bilateral Ischemic Occipital Lobe Strokes

    Directory of Open Access Journals (Sweden)

    Sanela Zukić

    2014-01-01

    Full Text Available We present a case of a patient with Anton’s syndrome (i.e., visual anosognosia with confabulations, who developed bilateral occipital lobe infarct. Bilateral occipital brain damage results in blindness, and patients start to confabulate to fill in the missing sensory input. In addition, the patient occasionally becomes agitated and talks to himself, which indicates that, besides Anton’s syndrome, he might have had Charles Bonnet syndrome, characterized by both visual loss and hallucinations. Anton syndrome, is not so frequent condition and is most commonly caused by ischemic stroke. In this particular case, the patient had successive bilateral occipital ischemia as a result of massive stenoses of head and neck arteries.

  2. Posterior semicircular canal dehiscence: a morphologic cause of vertigo similar to superior semicircular canal dehiscence

    International Nuclear Information System (INIS)

    Krombach, G.A.; Schmitz-Rode, T.; Haage, P.; Guenther, R.W.; DiMartino, E.; Prescher, A.; Kinzel, S.

    2003-01-01

    Heading Abstract.The aim of this study was to assess imaging findings of posterior semicircular dehiscence on computed tomography and to evaluate incidence of posterior and superior semicircular canal dehiscence in patients presenting with vertigo, sensorineuronal hearing loss or in a control group without symptoms related to the inner ear. Computed tomography was performed in 507 patients presenting either with vertigo (n=128; 23 of these patients suffered also from sensorineuronal hearing loss), other symptoms related to the inner ear, such as hearing loss or tinnitus (n=183) or symptoms unrelated to the labyrinth (n=196). All images were reviewed for presence of dehiscence of the bone, overlying the semicircular canals. Twenty-nine patients had superior semicircular canal dehiscence. Of these patients, 83% presented with vertigo, 10% with hearing loss or tinnitus and the remaining 7% with symptoms unrelated to the inner ear. In 23 patients dehiscence of the posterior semicircular canal was encountered. Of these patients, 86% presented with vertigo, 9% with hearing loss or tinnitus and 5% with symptoms unrelated to the inner ear. Defects of the bony overly are found at the posterior semicircular canal, in addition to the recently introduced superior canal dehiscence syndrome. Significant prevalence of vertigo in these patients suggests that posterior semicircular canal dehiscence can cause vertigo, similar to superior semicircular canal dehiscence. (orig.)

  3. Posterior semicircular canal dehiscence: a morphologic cause of vertigo similar to superior semicircular canal dehiscence

    Energy Technology Data Exchange (ETDEWEB)

    Krombach, G A; Schmitz-Rode, T; Haage, P; Guenther, R W [Department of Diagnostic Radiology, University of Technology, Pauwelstrasse 30, 52057, Aachen (Germany); DiMartino, E [Department of Otorhinolaryngology, University of Technology, Pauwelstrasse 30, 52057, Aachen (Germany); Prescher, A [Department of Anatomy, University of Technology, Pauwelstrasse 30, 52057, Aachen (Germany); Kinzel, S [Department of Experimental Veterinarian Medicine, University of Technology, Pauwelstrasse 30, 52057, Aachen (Germany)

    2003-06-01

    Heading Abstract.The aim of this study was to assess imaging findings of posterior semicircular dehiscence on computed tomography and to evaluate incidence of posterior and superior semicircular canal dehiscence in patients presenting with vertigo, sensorineuronal hearing loss or in a control group without symptoms related to the inner ear. Computed tomography was performed in 507 patients presenting either with vertigo (n=128; 23 of these patients suffered also from sensorineuronal hearing loss), other symptoms related to the inner ear, such as hearing loss or tinnitus (n=183) or symptoms unrelated to the labyrinth (n=196). All images were reviewed for presence of dehiscence of the bone, overlying the semicircular canals. Twenty-nine patients had superior semicircular canal dehiscence. Of these patients, 83% presented with vertigo, 10% with hearing loss or tinnitus and the remaining 7% with symptoms unrelated to the inner ear. In 23 patients dehiscence of the posterior semicircular canal was encountered. Of these patients, 86% presented with vertigo, 9% with hearing loss or tinnitus and 5% with symptoms unrelated to the inner ear. Defects of the bony overly are found at the posterior semicircular canal, in addition to the recently introduced superior canal dehiscence syndrome. Significant prevalence of vertigo in these patients suggests that posterior semicircular canal dehiscence can cause vertigo, similar to superior semicircular canal dehiscence. (orig.)

  4. [Children less than 3 months hospitalised due to acute febrile syndrome. 5 years clinical experience].

    Science.gov (United States)

    Méndez Espinola, Benigno Miguel; Herrera Labarca, Patricio

    2015-01-01

    Acute fever of unknown origin (AFUO) is established when the anamnesis and physical examination cannot identify the cause. In infants less than 3 months-old this is situation for concern, due to the risk of a serious bacterial infection. To describe the clinical and laboratory variable of patients with AFUO, in order to look for clues in order to base studies on the decisions arising drom this problem. A report is presented on a retrospective study conducted on a cohort of children less than three months-old admitted to the Hospital Roberto del Río (2007-2011) due to an AFUO. Clinical histories were reviewed and the patients were grouped, according to the severity of the admission diagnosis, into severe and non-severe. They were compared in strata determined by the variables of clinical interest. A total of 550 children were admitted with AFUO during the study period. There was low agreement between the severity on admission and at discharge (kappa=0.079; P=.26). There were 23.8% of children in the severe group and 76.2% in the non-severe group. Urinary tract infection predominated in the severe group (68.7%) and 40.7% with acute febrile syndrome in the non-severe group. The cut-off levels for C-reactive protein, white cells, and neutrophils per mm(3), to calculate the fixed and variable indices, only showed negative predictive values of some use for ruling out serious bacterial infection. The ROC curves with white cell and neutrophil counts and C-reactive protein, did not provide andy fixed indices of clinical use. More than one-third (34.6%) of lumbar punctures were traumatic or failures. According to the results of this study, there is an obvious excess of hospital admissions, little usefulness in the examinations to identify serious bacterial infection, a high percentage lumbar punctures traumatic and lumbar punctures failures, and an excess of antibiotic treatments. A review of clinical criteria and procedures is needed. Copyright © 2015 Sociedad Chilena de

  5. Lethal Progressive Thoracic Insufficiency in a Neonate Due to Jarcho Levin Syndrome

    Science.gov (United States)

    Bhutia, Euden; Maria, Arti; Verma, Arushi; Sethi, Sidharth Kumar

    2014-01-01

    A rare case of Jarcho Levin syndrome (JLS) presenting as a lethal progressive respiratory insufficiency in early neonatal period is reported. The neonate had classical features of this syndrome including vertebral segmentation defects, typical costo-vertebral fusion defects and scoliosis resulting in small thoracic volume and limited chest expansion; all consistent with a clinical diagnosis of JLS with thoracic insufficiency. In addition, our case had a rare association of dextrocardia and acyanotic congenital heart disease. PMID:24741543

  6. [Severe type A insulin resistance syndrome due to a mutation in the insulin receptor gene].

    Science.gov (United States)

    Ros, P; Colino-Alcol, E; Grasso, V; Barbetti, F; Argente, J

    2015-01-01

    Insulin resistance syndromes without lipodystrophy are an infrequent and heterogeneous group of disorders with variable clinical phenotypes, associated with hyperglycemia and hyperinsulinemia. The three conditions related to mutations in the insulin receptor gene are leprechaunism or Donohue syndrome, Rabson-Mendenhall syndrome, and Type A syndrome. A case is presented on a patient diagnosed with type A insulin resistance, defined by the triad of extreme insulin resistance, acanthosis nigricans, and hyperandrogenism, carrying a heterozygous mutation in exon 19 of the insulin receptor gene coding for its tyrosine kinase domain that is crucial for the catalytic activity of the receptor. The molecular basis of the syndrome is reviewed, focusing on the structure-function relationships of the insulin receptor, knowing that the criteria for survival are linked to residual insulin receptor function. It is also pointed out that, although type A insulin resistance appears to represent a somewhat less severe condition, these patients have a high morbidity and their treatment is still unsatisfactory. Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  7. Is the frontal dysexecutive syndrome due to a working memory deficit? Evidence from patients with stroke.

    Science.gov (United States)

    Roussel, Martine; Dujardin, Kathy; Hénon, Hilde; Godefroy, Olivier

    2012-07-01

    Although frontal dysexecutive disorders are frequently considered to be due to working memory deficit, this has not been systematically examined and very little evidence is available for impairment of working memory in frontal damage. The objective of this study was to examine the components of working memory, their anatomy and the relations with executive functions in patients with stroke involving the frontal or posterior cortex. The study population consisted of 29 patients (frontal: n=17; posterior: n=12) and 29 matched controls. Phonological loop (letter and word spans, phonological store; rehearsal process), visuospatial sketchpad (visuospatial span) and the central executive (working memory span, dual task and updating process) were examined. The group comparison analysis showed impairment in the frontal group of: (i) verbal spans (Pdeficit of the rehearsal process (P=0.006); (iii) visuospatial span (P=0.04); (iv) working memory span (P=0.001) that disappeared after controlling for verbal span and (v) running memory (P=0.05) unrelated to updating conditions. The clinical anatomical correlation study showed that impairment of the central executive depended on frontal and posterior lesion. Cognitive dysexecutive disorders were observed in 11/20 patients with central executive deficit and an inverse dissociation was observed in two patients. Receiver operating characteristic curve analysis indicated that cognitive dysexecutive disorders had the highest ability to discriminate frontal lesions (area under curve=0.844, 95% confidence interval: 0.74-0.95; P=0.0001; central executive impairment: area under curve=0.732, 95% confidence interval: 0.57-0.82; P=0.006). This study reveals that frontal lesions induce mild impairment of short-term memory associated with a deficit of the rehearsal process supporting the role of the frontal lobe in this process; the central executive depends on lesions in the frontal lobe and posterior regions accounting for its low frequency

  8. Rhabdomyolysis in a Young Girl with Van Wyk-Grumbach Syndrome due to Severe Hashimoto Thyroiditis

    Directory of Open Access Journals (Sweden)

    Alberto Leonardi

    2018-04-01

    Full Text Available Background: Autoimmune hypothyroidism (Hashimoto thyroiditis; HT is the most common postnatal thyroid disease. Clinical manifestations of HT vary according to disease severity. Due to the pleiotropic effects of thyroid hormone, less common signs and symptoms of HT can occur, leading to a delay in diagnosis. Case presentation: A 9-year-old girl of Indian origin was admitted for a one-week history of widespread myalgia, fatigue, muscle weakness, difficulty walking, and a significant increase in weight (approximately 2 kg without any changes in daily habits. The only relevant medical history was several intermittent vaginal bleeding episodes since four years of age. Breast development was consistent with Tanner stage 2 without pubic or axillary hair; while height and weight were at the 10th percentile and the 38th percentile; respectively. Bone age from a left wrist X-ray was delayed 1 year. Pelvic ultrasonography revealed a uterine body/neck ratio of >1 (pubertal stage and multifollicular ovaries. Her external genitalia had a childlike appearance. Laboratory examinations showed an increased thyroid-stimulating hormone, decreased free thyroxine, and positive anti-thyroglobulin antibody titres, as well as elevation of creatine phosphokinase, myoglobin, lactate dehydrogenase, serum aspartate aminotransferase, hypercholesterolemia, and a basal serum prolactin near the upper limit of normal. Follicle stimulating hormone and estradiol were slightly and significantly elevated, respectively. Thyroid ultrasound showed an increased gland size with irregular echostructures and high vascularization. Levothyroxine replacement therapy led to complete normalization of clinical and laboratory findings, including rhabdomyolysis indices. No further vaginal bleeding episodes were reported. Conclusion: This case report highlights how various can be the clinical picture of HT in children, and how rare clinical manifestations can be the only signs of disease at

  9. Rhabdomyolysis in a Young Girl with Van Wyk-Grumbach Syndrome due to Severe Hashimoto Thyroiditis.

    Science.gov (United States)

    Leonardi, Alberto; Penta, Laura; Cofini, Marta; Lanciotti, Lucia; Principi, Nicola; Esposito, Susanna

    2018-04-09

    Background: Autoimmune hypothyroidism (Hashimoto thyroiditis; HT) is the most common postnatal thyroid disease. Clinical manifestations of HT vary according to disease severity. Due to the pleiotropic effects of thyroid hormone, less common signs and symptoms of HT can occur, leading to a delay in diagnosis. Case presentation: A 9-year-old girl of Indian origin was admitted for a one-week history of widespread myalgia, fatigue, muscle weakness, difficulty walking, and a significant increase in weight (approximately 2 kg) without any changes in daily habits. The only relevant medical history was several intermittent vaginal bleeding episodes since four years of age. Breast development was consistent with Tanner stage 2 without pubic or axillary hair; while height and weight were at the 10th percentile and the 38th percentile; respectively. Bone age from a left wrist X-ray was delayed 1 year. Pelvic ultrasonography revealed a uterine body/neck ratio of >1 (pubertal stage) and multifollicular ovaries. Her external genitalia had a childlike appearance. Laboratory examinations showed an increased thyroid-stimulating hormone, decreased free thyroxine, and positive anti-thyroglobulin antibody titres, as well as elevation of creatine phosphokinase, myoglobin, lactate dehydrogenase, serum aspartate aminotransferase, hypercholesterolemia, and a basal serum prolactin near the upper limit of normal. Follicle stimulating hormone and estradiol were slightly and significantly elevated, respectively. Thyroid ultrasound showed an increased gland size with irregular echostructures and high vascularization. Levothyroxine replacement therapy led to complete normalization of clinical and laboratory findings, including rhabdomyolysis indices. No further vaginal bleeding episodes were reported. Conclusion: This case report highlights how various can be the clinical picture of HT in children, and how rare clinical manifestations can be the only signs of disease at presentation leading to

  10. A case of osteomalacia due to deranged mineral balance caused by saccharated ferric oxide and short-bowel syndrome

    Science.gov (United States)

    Nomoto, Hiroshi; Miyoshi, Hideaki; Nakamura, Akinobu; Nagai, So; Kitao, Naoyuki; Shimizu, Chikara; Atsumi, Tatsuya

    2017-01-01

    Abstract Rationale: Saccharated ferric oxide has been shown to lead to elevation of fibroblast growth factor 23, hypophosphatemia, and, consequently, osteomalacia. Moreover, mineral imbalance is often observed in patients with short-bowel syndrome to some degree. Patient concerns: A 62-year-old woman with short-bowel syndrome related with multiple resections of small intestines due to Crohn disease received regular intravenous administration of saccharated ferric oxide. Over the course of treatment, she was diagnosed with tetany, which was attributed to hypocalcemia. Additional assessments of the patient revealed not only hypocalcemia, but also hypophosphatemia, hypomagnesemia, osteomalacia, and a high concentration of fibroblast growth factor 23 (314 pg/mL). Diagnoses: We diagnosed her with mineral imbalance-induced osteomalacia due to saccharated ferric oxide and short-bowel syndrome. Interventions: Magnesium replacement therapy and discontinuation of saccharated ferric oxide alone. Outcomes: These treatments were able to normalize her serum mineral levels and increase her bone mineral density. Lessons: This case suggests that adequate evaluation of serum minerals, including phosphate and magnesium, during saccharated ferric oxide administration may be necessary, especially in patients with short-bowel syndrome. PMID:28953654

  11. Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene.

    Science.gov (United States)

    Martín-Hernández, Elena; García-Silva, María Teresa; Quijada-Fraile, Pilar; Rodríguez-García, María Elena; Rivera, Henry; Hernández-Laín, Aurelio; Coca-Robinot, David; Fernández-Toral, Joaquín; Arenas, Joaquín; Martín, Miguel A; Martínez-Azorín, Francisco

    2017-01-01

    Whole-exome sequencing was used to identify the disease gene(s) in a Spanish girl with failure to thrive, muscle weakness, mild facial weakness, elevated creatine kinase, deficiency of mitochondrial complex III and depletion of mtDNA. With whole-exome sequencing data, it was possible to get the whole mtDNA sequencing and discard any pathogenic variant in this genome. The analysis of whole exome uncovered a homozygous pathogenic mutation in thymidine kinase 2 gene ( TK2; NM_004614.4:c.323 C>T, p.T108M). TK2 mutations have been identified mainly in patients with the myopathic form of mtDNA depletion syndromes. This patient presents an atypical TK2-related myopathic form of mtDNA depletion syndromes, because despite having a very low content of mtDNA (TK2 gene in mtDNA depletion syndromes and expanded the phenotypic spectrum.

  12. Cortical correlates of affective syndrome in dementia due to Alzheimer’s disease

    Directory of Open Access Journals (Sweden)

    Thaís T. Hayata

    2015-07-01

    Full Text Available Neuropsychiatric symptoms in Alzheimer’s disease (AD are prevalent, however their relationship with patterns of cortical atrophy is not fully known. Objectives To compare cortical atrophy’s patterns between AD patients and healthy controls; to verify correlations between neuropsychiatric syndromes and cortical atrophy. Method 33 AD patients were examined by Neuropsychiatric Inventory (NPI. Patients and 29 controls underwent a 3T MRI scanning. We considered four NPI syndromes: affective, apathy, hyperactivity and psychosis. Correlations between structural imaging and neuropsychiatric scores were performed by Freesurfer. Results were significant with a p-value < 0.05, corrected for multiple comparisons. Results Patients exhibited atrophy in entorhinal cortices, left inferior and middle temporal gyri, and precuneus bilaterally. There was correlation between affective syndrome and cortical thickness in right frontal structures, insula and temporal pole. Conclusion Cortical thickness measures revealed atrophy in mild AD. Depression and anxiety symptoms were associated with atrophy of right frontal, temporal and insular cortices.

  13. Acute flaccid paraparesis (cauda equina syndrome) in a patient with Bardet–Biedl syndrome

    Science.gov (United States)

    Viswanathan, Vibhu Krishnan; Kanna, Rishi Mugesh; Shetty, Ajoy Prasad; Rajasekaran, S

    2017-01-01

    Bardet–Biedl syndrome (BBS) is a rare, autosomal-recessive, debilitating genetic disorder, which can present with multitudinous systemic clinical features including rod-cone dystrophy, polydactyly, Frohlich-like central obesity, mental retardation, hypogonadism, and renal anomalies. Diverse neuromuscular manifestations in patients afflicted by this heterogeneous disorder include ataxia, cervical, and thoracic canal stenoses, presenting as spastic quadriparesis and other gait disturbances. We report a young patient with BBS, who had presented with acute flaccid paraparesis due to severe primary lumbar canal stenosis. She underwent immediate lumbar decompression and discectomy following which she recovered significantly. Acute cauda equina syndrome due to primary lumbar canal stenosis has not been reported as a clinical feature of BBS previously. PMID:28566787

  14. Further case of Rubinstein-Taybi syndrome due to a deletion in EP300.

    LENUS (Irish Health Repository)

    Foley, Patricia

    2012-02-01

    Rubinstein-Taybi syndrome (RSTS) is a heterogeneous disorder with approximately 45-55% of patients showing mutations in the CREB binding protein and a further 3% of patients having mutations in EP300. We report a male child with a deletion of exons 3-8 of the EP300 gene who has RSTS. He has a milder skeletal phenotype, a finding that has been described in other cases with EP300 mutations. The mother suffered from pre-eclampsia and HELLP syndrome in the pregnancy. She subsequently developed a mullerian tumor of her cervix 6 years after the birth of her son.

  15. Fanconi syndrome due to prolonged use of low-dose adefovir

    Directory of Open Access Journals (Sweden)

    Xiao-Bing Wang

    2015-01-01

    Full Text Available Fanconi syndrome results from a generalized abnormality of the proximal tubules of the kidney and owing to phosphate depletion can cause hypophosphatemic osteomalacia. Adefovir dipivoxyl (ADV effectively suppresses hepatitis B virus replication but exhibits nephrotoxicity when administered at a low dosage. We report two cases of Fanconi syndrome induced by ADV at 10 mg/day to call for regular screening for evidence of proximal tubular dysfunction and detailed bone metabolic investigations for prompt detection of ADV nephrotoxicity is critically important to ensure timely drug withdrawal before the development of irreversible tubulointerstitial injury.

  16. Biosynthesis of Various Steroids in vitro by Isolated Adrenal Cells in Primary Aldosteronism, Cushing's Syndrome, and Adrenogenital Syndrome due to Adrenocortical Adenoma

    OpenAIRE

    MIZUNO, SHIGERU; FUNAHASHI, HIROOMI

    1981-01-01

    To a further understanding of the role of steroid hormones in adrenal disorders, we have prepared free cell system of adrenal cells, using adrenal tissues that had been removed by operation from (i) cases of Cushing's syndrome due to adrenocortical adenoma or adrenocortical hyperplasia, (ii) a case of primary aldosteronism, and (iii) a patient with virilizing adrenal tumor. Twelve important steroid hormones were measured, such as pregnenolone, cortisol and aldosterone, which were produced by ...

  17. Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion

    DEFF Research Database (Denmark)

    Morisada, Naoya; Rendtorff, Nanna Dahl; Nozu, Kandai

    2010-01-01

    A 7-year-old Japanese girl with conductive deafness and preauricular fistulae developed proteinuria. She had renal insufficiency, and ultrasound revealed bilateral small kidneys. These findings indicated that she had branchio-oto-renal (BOR) syndrome. In the present patient, we identified, by usi...

  18. Surgical Treatment of Snapping Scapula Syndrome Due to Malunion of Rib Fractures.

    Science.gov (United States)

    Ten Duis, Kaj; IJpma, Frank F A

    2017-02-01

    This report describes a case of snapping scapula syndrome (SSS) caused by malunited rib fractures. Abrasion of the deformed ribs was performed with good results. SSS as a cause of shoulder pain after thoracic trauma has to be considered and can be treated by a surgical abrasion technique. Copyright © 2017 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  19. ADULT RESPIRATORY-DISTRESS SYNDROME (ARDS) DUE TO BACTEREMIC PNEUMOCOCCAL PNEUMONIA

    NARCIS (Netherlands)

    MANNES, GPM; BOERSMA, WG; BAUR, CHJM; POSTMUS, PE

    We describe a patient, who had no pre-existing disease, with bacteraemic pneumococcal pneumonia and adult respiratory distress syndrome (ARDS), a rare complication. In spite of the use of antibiotics and intensive treatment the mortality rate of this kind of infection remains high. Streptococcus

  20. Spontaneous Thrombosis of a Bicuspid Aortic valve due to Primary Antiphospholipid Syndrome

    Directory of Open Access Journals (Sweden)

    Sarah Farrell

    2010-08-01

    Full Text Available We present the case of a 51-year-old man who was admitted as an emergency with spontaneous thrombosis of the aortic valve and ascending aorta. At operation he was found to have a congenitally bicuspid aortic valve and subsequent investigation revealed primary antiphospholipid syndrome. He underwent successful removal of the thrombus combined with mechanical replacement of the aortic valve.

  1. Physical and Psychological Health in Persons with Deafblindness that Is due to Usher Syndrome Type II

    Science.gov (United States)

    Wahlqvist, Moa; Moller, Claes; Moller, Kerstin; Danermark, Berth

    2013-01-01

    Introduction: The objectives of the study reported here were to describe the physical and psychological health of persons with Usher syndrome Type II (USH2) and to explore any differences in terms of gender. Methods: The participants were recruited from the Swedish Usher database. In the first step, 122 persons received the questionnaire by mail,…

  2. Myocardial ischemia due to compression of an unruptured thoracic aortic aneurysm in a patient with Marfan syndrome.

    Science.gov (United States)

    Minami, Hiroya; Asada, Tatsuro; Gan, Kunio; Abe, Koichiro; Izumi, Satoshi

    2007-06-01

    We report a 33-year-old woman who had a 60-mm thoracic aneurysm of the ascending aorta with Marfan syndrome and effort angina due to compression of the right coronary artery (RCA) by the aneurysm. Surgery was performed using the Bentall procedure and a coronary artery bypass graft to the RCA. Postoperatively, coronary angiography showed that the coronary flow of the RCA was restored by removing the aneurysmal compression. The patient was discharged without angina on postoperative day 21.

  3. The clinical phenotype of Lynch syndrome due to germline PMS2 mutations

    Science.gov (United States)

    Senter, Leigha; Clendenning, Mark; Sotamaa, Kaisa; Hampel, Heather; Green, Jane; Potter, John D.; Lindblom, Annika; Lagerstedt, Kristina; Thibodeau, Stephen N.; Lindor, Noralane M.; Young, Joanne; Winship, Ingrid; Dowty, James G.; White, Darren M.; Hopper, John L.; Baglietto, Laura; Jenkins, Mark A.; de la Chapelle, Albert

    2009-01-01

    Background and Aims Although the clinical phenotype of Lynch syndrome (also known as Hereditary Nonpolyposis Colorectal Cancer) has been well described, little is known about disease in PMS2 mutation carriers. Now that mutation detection methods can discern mutations in PMS2 from mutations in its pseudogenes, more mutation carriers have been identified. Information about the clinical significance of PMS2 mutations is crucial for appropriate counseling. Here, we report the clinical characteristics of a large series of PMS2 mutation carriers. Methods We performed PMS2 mutation analysis using long range PCR and MLPA for 99 probands diagnosed with Lynch syndrome-associated tumors showing isolated loss of PMS2 by immunohistochemistry. Penetrance was calculated using a modified segregation analysis adjusting for ascertainment. Results Germline PMS2 mutations were detected in 62% of probands (n = 55 monoallelic; 6 biallelic). Among families with monoallelic PMS2 mutations, 65.5% met revised Bethesda guidelines. Compared with the general population, in mutation carriers, the incidence of colorectal cancer was 5.2 fold higher and the incidence of endometrial cancer was 7.5 fold higher. In North America, this translates to a cumulative cancer risk to age 70 of 15–20% for colorectal cancer, 15% for endometrial cancer, and 25–32% for any Lynch syndrome-associated cancer. No elevated risk for non-Lynch syndrome-associated cancers was observed. Conclusions PMS2 mutations contribute significantly to Lynch syndrome but the penetrance for monoallelic mutation carriers appears to be lower than that for the other mismatch repair genes. Modified counseling and cancer surveillance guidelines for PMS2 mutation carriers are proposed. PMID:18602922

  4. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.

    Science.gov (United States)

    Senter, Leigha; Clendenning, Mark; Sotamaa, Kaisa; Hampel, Heather; Green, Jane; Potter, John D; Lindblom, Annika; Lagerstedt, Kristina; Thibodeau, Stephen N; Lindor, Noralane M; Young, Joanne; Winship, Ingrid; Dowty, James G; White, Darren M; Hopper, John L; Baglietto, Laura; Jenkins, Mark A; de la Chapelle, Albert

    2008-08-01

    Although the clinical phenotype of Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer) has been well described, little is known about disease in PMS2 mutation carriers. Now that mutation detection methods can discern mutations in PMS2 from mutations in its pseudogenes, more mutation carriers have been identified. Information about the clinical significance of PMS2 mutations is crucial for appropriate counseling. Here, we report the clinical characteristics of a large series of PMS2 mutation carriers. We performed PMS2 mutation analysis using long-range polymerase chain reaction and multiplex ligation-dependent probe amplification for 99 probands diagnosed with Lynch syndrome-associated tumors showing isolated loss of PMS2 by immunohistochemistry. Penetrance was calculated using a modified segregation analysis adjusting for ascertainment. Germ-line PMS2 mutations were detected in 62% of probands (n = 55 monoallelic; 6 biallelic). Among families with monoallelic PMS2 mutations, 65.5% met revised Bethesda guidelines. Compared with the general population, in mutation carriers, the incidence of colorectal cancer was 5.2-fold higher, and the incidence of endometrial cancer was 7.5-fold higher. In North America, this translates to a cumulative cancer risk to age 70 years of 15%-20% for colorectal cancer, 15% for endometrial cancer, and 25%-32% for any Lynch syndrome-associated cancer. No elevated risk for non-Lynch syndrome-associated cancers was observed. PMS2 mutations contribute significantly to Lynch syndrome, but the penetrance for monoallelic mutation carriers appears to be lower than that for the other mismatch repair genes. Modified counseling and cancer surveillance guidelines for PMS2 mutation carriers are proposed.

  5. Oral-facial-digital syndrome with mesoaxial polysyndactyly, common AV canal, hirschsprung disease and sacral dysgenesis: Probably a transitional type between II, VI, variant of type VI or a new type

    Directory of Open Access Journals (Sweden)

    Rabah M. Shawky

    2014-07-01

    Full Text Available We report a 4 month old male infant, the first in order of birth of healthy first cousin consanguineous parents who has many typical features of oral-facial-digital syndrome type VI (OFDS VI including hypertelorism, bilateral convergent squint, depressed nasal bridge, and wide upturned nares, low set posteriorly rotated ears, long philtrum, gum hyperplasia with notches of the alveolar borders, high arched palate, and hyperplastic oral frenula. He has mesoaxial and postaxial, polysyndactyly which is the specific feature of OFDS VI, however the cerebellum is normal on MRI brain. He has also some rare congenital anomalies including common atrioventricular canal, hirschsprung disease, and sacral dysgenesis. This patient may have a transitional type between II and VI, a variant of type VI or a new type.

  6. Pyogenic liver abscess and peritonitis due to Rhizopus oryzae in a child with Papillon-Lefevre syndrome.

    Science.gov (United States)

    Dalgic, Buket; Bukulmez, Aysegul; Sari, Sinan

    2011-06-01

    Papillon-Lefevre syndrome (PLS) is an autosomal recessive disease that is characterized by symmetric palmoplantar keratodermatitis and severe periodontal destruction. Mutations in the cathepsin C gene (CTSC) have recently been detected in PLS. Immune dysregulation, due to a mutation in CTSC, increases the risk of pyogenic infections in PLS patients. A child with PLS is presented here with liver abscesses and peritonitis caused by Rhizopus oryzae. His liver abscess and peritonitis were cured with amphotericin B without surgical care. This is the first case in the literature liver abscess due to Rhizopus oryzae in a child with PLS.

  7. Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing.

    Science.gov (United States)

    Becirovic, Elvir; Ebermann, Inga; Nagy, Ditta; Zrenner, Eberhart; Seeliger, Mathias Wolfgang; Bolz, Hanno Jörn

    2008-03-01

    Usher syndrome (USH) is an autosomal recessive condition characterized by sensorineural hearing loss, vestibular dysfunction, and visual impairment due to retinitis pigmentosa. Truncating mutations in the cadherin-23 gene (CDH23) result in Usher syndrome type 1D (USH1D), whereas missense mutations affecting strongly conserved motifs of the CDH23 protein cause non-syndromic deafness (DFNB12). Four missense mutations constitute an exception from this genotype-phenotype correlation: they have been described in USH1 patients in homozygous state. Using a minigene assay, we have investigated these changes (c.1450G>C, p.A484P; c.3625A>G, p.T1209A; c.4520G>A, p.R1507Q; and c.5237G>A, p.R1746Q) for a possible impact on mRNA splicing which could explain the syndromic phenotype. While in silico analysis suggested impairment of splicing in all four cases, we found aberrant splicing for only one mutation, p.R1746Q. However, splicing was normal in case of p.A484P, p.T1209A and p.R1507Q. These three latter CDH23 missense mutations could interfere with functions of both, the auditory and the visual system. Alternatively, they could represent rare non-pathogenic polymorphisms.

  8. Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C.

    Science.gov (United States)

    Choi, Keun Hee; Shin, Choong Ho; Yang, Sei Won; Cheong, Hae Il

    2015-04-01

    The calcium sensing receptor (CaSR) plays an important role in calcium homeostasis. Activating mutations of CaSR cause autosomal dominant hypocalcemia by affecting parathyroid hormone secretion in parathyroid gland and calcium resorption in kidney. They can also cause a type 5 Bartter syndrome by inhibiting the apical potassium channel in the thick ascending limb of the loop of Henle in the kidney. This study presents a patient who had autosomal dominant hypocalcemia with Bartter syndrome due to an activating mutation Y829C in the transmembrane domain of the CaSR. Symptoms of hypocalcemia occurred 12 days after birth and medication was started immediately. Medullary nephrocalcinosis and basal ganglia calcification were found at 7 years old and at 17 years old. Three hypercalcemic episodes occurred, one at 14 years old and two at 17 years old. The Bartter syndrome was not severe while the serum calcium concentration was controlled, but during hypercalcemic periods, the symptoms of Bartter syndrome were aggravated.

  9. A Turkish family with Nance-Horan Syndrome due to a novel mutation.

    Science.gov (United States)

    Tug, Esra; Dilek, Nihal F; Javadiyan, Shahrbanou; Burdon, Kathryn P; Percin, Ferda E

    2013-08-01

    Nance-Horan Syndrome (NHS) is a rare X-linked syndrome characterized by congenital cataract which leads to profound vision loss, characteristic dysmorphic features and specific dental anomalies. Microcornea, microphthalmia and mild or moderate mental retardation may accompany these features. Heterozygous females often manifest similarly but with less severe features than affected males. We describe two brothers who have the NHS phenotype and their carrier mother who had microcornea but not cataract. We identified a previously unreported frameshift mutation (c.558insA) in exon 1 of the NHS gene in these patients and their mother which is predicted to result in the incorporation of 11 aberrant amino acids prior to a stop codon (p.E186Efs11X). We also discussed genotype-phenotype correlation according to relevant literature. Copyright © 2013 Elsevier B.V. All rights reserved.

  10. Hereditary mixed polyposis syndrome due to a BMPR1A mutation.

    LENUS (Irish Health Repository)

    O'Riordan, J M

    2010-06-01

    The conditions Juvenile Polyposis Syndrome (JPS) and Hereditary Mixed Polyposis Syndrome (HMPS) are associated with an increased risk of colorectal carcinoma. The genetic mechanisms which explain these conditions have until recently been poorly understood. Recent interest has focused on the transforming growth factor (TGF)-beta signalling pathway and, in particular, on mutations in the SMAD4 gene. However, not all cases of JPS and HMPS have mutations in SMAD4 and focus has now shifted to other components of the TGF-beta pathway to clarify the genetic mechanisms involved in these conditions. In this report, we describe the significance of a bone morphogenetic protein receptor type 1A gene mutation in an Irish family.

  11. Neuropathic ocular pain due to dry eye is associated with multiple comorbid chronic pain syndromes

    Science.gov (United States)

    Galor, Anat; Covington, Derek; Levitt, Alexandra E.; McManus, Katherine T.; Seiden, Benjamin; Felix, Elizabeth R.; Kalangara, Jerry; Feuer, William; Patin, Dennis J.; Martin, Eden R.; Sarantopoulos, Konstantinos D.; Levitt, Roy C.

    2015-01-01

    Recent data demonstrate that dry eye (DE) susceptibility and other chronic pain syndromes (CPS) such as chronic widespread pain, irritable bowel syndrome and pelvic pain, may share common heritable factors. Previously, we showed that DE patients describing more severe symptoms tended to report features of neuropathic ocular pain (NOP). We hypothesize that patients with a greater number of CPS would have a different DE phenotype compared to those with fewer CPS. We recruited a cohort of 154 DE patients from the Miami Veterans Affairs Hospital and defined high and low CPS groups by cluster analysis. In addition to worse non-ocular pain complaints and higher PTSD and depression scores (Ppain assessed via 3 different pain scales (Ppain disorder, and that shared mechanistic factors may underlie vulnerability to some forms of DE and other comorbid CPS. PMID:26606863

  12. Cauda Equina Syndrome Due to Lumbar Disc Herniation: a Review of Literature

    Directory of Open Access Journals (Sweden)

    Kapetanakis Stylianos

    2017-12-01

    Full Text Available Cauda equina syndrome (CES is a rare neurologic condition that is caused by compression of the cauda equina. Cauda equina consists of spinal nerves L2-L5, S1-S5 and the coccygeal nerve. The compression of these nerve roots can be caused mainly by lumbar disc herniation (45% of all causes. The diagnosis consists of two critical points: a detailed history and physical examination and b MRI or CT. The gold standard of the treatment of this syndrome is the surgical approach in combination with the timing of onset of symptoms. The surgery as an emergency situation is recommended in the fi rst 48 hours of onset of symptoms. Any delay in diagnosis and treatment leads to a poor prognosis of CES.

  13. Cauda Equina Syndrome Due to Lumbar Disc Herniation: a Review of Literature.

    Science.gov (United States)

    Kapetanakis, Stylianos; Chaniotakis, Constantinos; Kazakos, Constantinos; Papathanasiou, Jannis V

    2017-12-20

    Cauda equina syndrome (CES) is a rare neurologic condition that is caused by compression of the cauda equina. Cauda equina consists of spinal nerves L2-L5, S1-S5 and the coccygeal nerve. The compression of these nerve roots can be caused mainly by lumbar disc herniation (45% of all causes). The diagnosis consists of two critical points: a) detailed history and physical examination and b) MRI or CT. The gold standard of the treatment of this syndrome is the surgical approach in combination with the timing of onset of symptoms. The surgery as an emergency situation is recommended in the fi rst 48 hours of onset of symptoms. Any delay in diagnosis and treatment leads to a poor prognosis of CES.

  14. Endoscopic root canal treatment.

    Science.gov (United States)

    Moshonov, Joshua; Michaeli, Eli; Nahlieli, Oded

    2009-10-01

    To describe an innovative endoscopic technique for root canal treatment. Root canal treatment was performed on 12 patients (15 teeth), using a newly developed endoscope (Sialotechnology), which combines an endoscope, irrigation, and a surgical microinstrument channel. Endoscopic root canal treatment of all 15 teeth was successful with complete resolution of all symptoms (6-month follow-up). The novel endoscope used in this study accurately identified all microstructures and simplified root canal treatment. The endoscope may be considered for use not only for preoperative observation and diagnosis but also for active endodontic treatment.

  15. Immune reconstitution syndrome in a human immunodeficiency virus infected child due to giardiasis leading to shock

    Directory of Open Access Journals (Sweden)

    Sneha Nandy

    2015-01-01

    Full Text Available Human immunodeficiency virus (HIV-associated immune reconstitution inflammatory syndrome has been reported in association with tuberculosis, herpes zoster (shingles, Cryptococcus neoformans, Kaposi′s sarcoma, Pneumocystis pneumonia, hepatitis B virus, hepatitis C virus, herpes simplex virus, Histoplasma capsulatum, human papillomavirus, and Cytomegalovirus. However, it has never been documented with giardiasis. We present a 7-year-old HIV infected girl who developed diarrhea and shock following the initiation of antiretroviral therapy, and her stool showed the presence of giardiasis.

  16. Carnitine Profile and Effect of Suppletion in Children with Renal Fanconi Syndrome due to Cystinosis

    OpenAIRE

    Besouw, M.; Cornelissen, E.; Cassiman, D.; Kluijtmans, L.; van den Heuvel, L.; Levtchenko, E.

    2014-01-01

    Background: Cystinosis is an autosomal recessive disorder marked by intralysosomal cystine accumulation. Patients present with generalized proximal tubular dysfunction called renal Fanconi syndrome. Urinary carnitine loss results in plasma and muscle carnitine deficiency, but no clinical signs of carnitine deficiency have been described. Also, the optimal dose of carnitine supplementation is undefined. This study aimed to determine whether currently recommended carnitine doses result in adequ...

  17. The role of nasal CPAP in obstructive sleep apnoea syndrome due to mandibular hypoplasia.

    LENUS (Irish Health Repository)

    Miller, Stanley D W

    2012-02-01

    Melnick Needles syndrome (MNS), Treacher Collins syndrome (TCS) and Pierre Robin syndrome (PRS) are congenital abnormalities with characteristic facial appearances that include micrognathia. A 20-year-old girl with MNS, a 16-year-old boy with TCS and a 12-year-old girl with PRS attended the sleep apnoea clinic at our institution at different times. Diagnostic sleep studies were initially performed on all three patients to confirm the diagnosis of obstructive sleep apnoea syndrome (OSAS). They subsequently commenced nasal CPAP (nCPAP) treatment and their progress was followed. A limited sleep study on the patient with MNS demonstrated moderate\\/severe OSAS with an AHI of 33 events\\/h. Commencement of nCPAP resulted in symptomatic improvement. Overnight oximetry in the patient with TCS showed repeated desaturation to SpO2<90%. Subsequent treatment by nCPAP almost completely abolished the desaturation events. Overnight polysomnography in the patient with PRS demonstrated severe OSAS with an AHI of 49 events\\/h. After 3 years of nCPAP therapy, this patient requested discontinuation of treatment. Subsequent polysomnography without nCPAP revealed an AHI of <5 events\\/h. The use of nCPAP in the patients with MNS and TCS resulted in effective control of their sleep abnormalities. Mandibular growth and enlargement of the posterior airway space led to resolution of OSAS in the patient with PRS. There is a definite role for nCPAP therapy in patients with congenital micrognathia and OSAS. The use of nCPAP may obviate the need for more invasive corrective surgery for OSAS and is not necessarily a life-long requirement.

  18. Acute intraparenchymal spinal cord injury in a cat due to high-rise syndrome.

    Science.gov (United States)

    Cruz-Arámbulo, Robert; Nykamp, Stephanie

    2012-03-01

    A 9-year-old spayed female Bengal Red cat was evaluated for high-rise syndrome. The cat had paraplegia of the hind limbs, intact reflexes and pain perception, and hyperesthesia in the caudal thoracic area. Mentation, cranial nerve function, forelimb proprioceptive responses, and spinal reflexes were normal. There were no abnormalities on radiographs or computed tomography scan, but magnetic resonance imaging revealed a hyperintense intraparenchymal spinal cord lesion on T2-weighted and T2 fat saturation images.

  19. Acute intraparenchymal spinal cord injury in a cat due to high-rise syndrome

    OpenAIRE

    Cruz–Arámbulo, Robert; Nykamp, Stephanie

    2012-01-01

    A 9-year-old spayed female Bengal Red cat was evaluated for high-rise syndrome. The cat had paraplegia of the hind limbs, intact reflexes and pain perception, and hyperesthesia in the caudal thoracic area. Mentation, cranial nerve function, forelimb proprioceptive responses, and spinal reflexes were normal. There were no abnormalities on radiographs or computed tomography scan, but magnetic resonance imaging revealed a hyperintense intraparenchymal spinal cord lesion on T2-weighted and T2 fat...

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

    Directory of Open Access Journals (Sweden)

    Venkatraman Thulasi BA

    2017-08-01

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

  1. A case of stiff-person syndrome due to secondary adrenal insufficiency.

    Science.gov (United States)

    Mizuno, Yuri; Yamaguchi, Hiroo; Uehara, Taira; Yamashita, Kenichiro; Yamasaki, Ryo; Kira, Jun-Ichi

    2017-06-28

    We report a case of flexion contractures in a patient's legs secondary to postpartum hypopituitarism. A 56-year-old woman presented with a 3-year history of worsening flexion contractures of the hips and knees. On admission, her hips and knees could not be extended, and she had muscle stiffness and tenderness to palpation of the lower extremities. We first suspected stiff-person syndrome or Isaacs' syndrome because of her muscle stiffness. However, multiple hormones did not respond to stimulation tests, and an MRI of the brain showed atrophy of the pituitary gland with an empty sella. A subsequent interview revealed that she had suffered a severe hemorrhage while delivering her third child. She was diagnosed with panhypopituitarism and started on cortisol replacement therapy. After 1 week of treatment with hydrocortisone (10 mg/day), her symptoms quickly improved. We then added 75 μg/day of thyroid hormone. During the course of her treatment, autoantibodies against VGKC complex were found to be weakly positive. However, we considered the antibodies to be unrelated to her disease, because her symptoms improved markedly with low-dose steroid treatment. There are a few reports describing flexion contractures of the legs in patients with primary and secondary adrenal insufficiency. As these symptoms are similar to those seen in stiff-person syndrome, adrenal and pituitary insufficiency should be taken into account to achieve the correct diagnosis and treatment in patients with flexion contractures and muscle stiffness.

  2. Color vision abnormality as the sole manifestation of posterior reversible encephalopathy due to post-partum HELLP syndrome.

    Science.gov (United States)

    Takahashi, Hironori; Matsubara, Teppei; Makino, Shinji; Horie, Kenji; Matsubara, Shigeki

    2017-03-01

    Posterior reversible encephalopathy syndrome (PRES) is associated with several symptoms; of those, visual acuity loss, light oversensitivity (photophobia), and light flashes (photopsia) are known as PRES-related eye symptoms. We report a post-partum woman with PRES associated with hemolysis, elevated liver enzymes, and low platelets syndrome (HELLP), in whom color vision abnormality (achromatopsia) was the sole manifestation. Cesarean section was performed at 28 weeks due to headache, epigastralgia, and severe hypertension. HELLP became evident after delivery. On post-partum day 1, she complained of achromatopsia, stating: "all things look brownish-gray". Ophthalmologic examination was normal, but brain magnetic resonance imaging showed occipital lobe lesions, indicative of PRES, and, interestingly, also color vision center (area V4) lesions, suggesting that the achromatopsia had been caused by brain damage. It may be prudent to question HELLP patients concerning achromatopsia. © 2017 Japan Society of Obstetrics and Gynecology.

  3. Chronic Localized Back Pain Due to Posterior Cutaneous Nerve Entrapment Syndrome (POCNES): A New Diagnosis.

    Science.gov (United States)

    Boelens, Oliver B; Maatman, Robert C; Scheltinga, Marc R; van Laarhoven, Kees; Roumen, Rudi M

    2017-03-01

    Most patients with chronic back pain suffer from degenerative thoracolumbovertebral disease. However, the following case illustrates that a localized peripheral nerve entrapment must be considered in the differential diagnosis of chronic back pain. We report the case of a 26-year-old woman with continuous excruciating pain in the lower back area. Previous treatment for nephroptosis was to no avail. On physical examination the pain was present in a 2 x 2 cm area overlying the twelfth rib some 4 cm lateral to the spinal process. Somatosensory testing using swab and alcohol gauze demonstrated the presence of skin hypo- and dysesthesia over the painful area. Local pressure on this painful spot elicited an extreme pain response that did not irradiate towards the periphery. These findings were highly suggestive of a posterior version of the anterior cutaneous nerve entrapment syndrome (ACNES), a condition leading to a severe localized neuropathic pain in anterior portions of the abdominal wall. She demonstrated a beneficial albeit temporary response after lidocaine infiltration as dictated by an established diagnostic and treatment protocol for ACNES. She subsequently underwent a local neurectomy of the involved superficial branch of the intercostal nerve. This limited operation had a favorable outcome resulting in a pain-free return to normal activities up to this very day (follow-up of 24 months).We propose to name this novel syndrome "posterior cutaneous nerve entrapment syndrome" (POCNES). Each patient with chronic localized back pain should undergo simple somatosensory testing to detect the presence of overlying skin hypo- and dysesthesia possibly reflecting an entrapped posterior cutaneous nerve.Key words: Chronic pain, back pain, posterior cutaneous nerve entrapment, peripheral nerve entrapment, surgical treatment for pain, anterior cutaneous nerve entrapment.

  4. Thoracic Outlet Syndrome in a Volleyball Player Due to Nonunion of the First Rib Fracture.

    Science.gov (United States)

    Puttmann, Kathleen T; Satiani, Bhagwan; Vaccaro, Patrick

    2016-11-01

    Fracture of the first rib with ensuing callus formation is a rare cause of thoracic outlet syndrome. We report a case of a 17-year-old female volleyball player who presented with months of chronic arm pain. Radiographic imaging demonstrated nonunion fracture of the first rib. Physical therapy had been unsuccessful in relieving the pain, and surgical management was performed with resection of the first rib through a transaxillary approach with complete resolution of symptoms. Inflammation surrounding such fractures may destroy tissue planes, making dissection more technically difficult.

  5. Intracranial hemorrhage due to intracranial hypertension caused by the superior vena cava syndrome

    DEFF Research Database (Denmark)

    Bartek, Jiri; Abedi-Valugerdi, Golbarg; Liska, Jan

    2013-01-01

    We report a patient with intracranial hemorrhage secondary to venous hypertension as a result of a giant aortic pseudoaneurysm that compressed the superior vena cava and caused obstruction of the venous return from the brain. To our knowledge, this is the first patient reported to have...... an intracranial hemorrhage secondary to a superior vena cava syndrome. The condition appears to be caused by a reversible transient rise in intracranial pressure, as a result of compression of the venous return from the brain. Treatment consisted of surgery for the aortic pseudoaneurysm, which led...

  6. CT and MR Imagings of Semicircular Canal Aplasia

    Energy Technology Data Exchange (ETDEWEB)

    Shin, Chung Hee; Hong, Hyun Sook; Yi, Beom Ha; Cha, Jang Gyu; Park, Seong Jin; Kim, Dae Ho; Lee, Hae Kyung; Kim, Shi Chan [Soonchunhyang University Bucheon Hospital, Bucheon (Korea, Republic of)

    2009-07-15

    To evaluate the clinical, CT and MR imaging findings of semicircular canal (SCC) aplasia and to evaluate if a correlation exists between these findings and the associated anomalies or syndromes. This study retrospectively reviewed the CT and MRI findings of five patients with SCC aplasia. The CT and MR findings were analyzed for SCC, direction of facial nerve canal, cochlea, vestibule, oval or round window, middle ear ossicles, and internal auditory canal (IAC). The subjects included three boys and two girls ranging in age from one to 120 months (mean age; 51 months). Four of the subjects had the CHARGE syndrome, and one had the Goldenhar syndrome. Moreover, four subjects had sensorineural hearing loss and one had combined hearing loss. The course of the facial nerve canal was abnormal in all five cases. Moreover, trapped cochlea and dysplastic modiolus were each observed in one case. Four subjects had atresia of the oval window; whereas ankylosis of the ossicles was present in three subjects. IAC stenosis was present in one patient with the CHARGE syndrome. The aberrant course of the facial nerve canal, atresia of the oval window, and abnormal ossicles were frequently associated in patients with SCC aplasia. In addition, the Goldenhar and CHARGE syndromes were also commonly associated syndromes.

  7. The changing landscape of Lynch syndrome due to PMS2 mutations.

    Science.gov (United States)

    Blount, J; Prakash, A

    2018-07-01

    DNA repair pathways are essential for cellular survival as our DNA is constantly under assault from both exogenous and endogenous DNA damaging agents. Five major mammalian DNA repair pathways exist within a cell to maintain genomic integrity. Of these, the DNA mismatch repair (MMR) pathway is highly conserved among species and is well documented in bacteria. In humans, the importance of MMR is underscored by the discovery that a single mutation in any 1 of 4 genes within the MMR pathway (MLH1, MSH2, MSH6 and PMS2) results in Lynch syndrome (LS). LS is a autosomal dominant condition that predisposes individuals to a higher incidence of many malignancies including colorectal, endometrial, ovarian, and gastric cancers. In this review, we discuss the role of PMS2 in the MMR pathway, the evolving testing criteria used to identify variants in the PMS2 gene, the LS phenotype as well as the autosomal recessive condition called constitutional mismatch repair deficiency syndrome, and current methods used to elucidate the clinical impact of PMS2 mutations. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  8. Burning Mouth Syndrome due to Television Moans, an Enigma for Oral Physician: Treatment with Counseling

    Science.gov (United States)

    Gupta, Deepak; Sheikh, Soheyl; Pallagatti, Shambulingappa; Kasariya, Kartikaya; Buttan, Amit; Gupta, Maqul

    2014-01-01

    Burning mouth syndrome (BMS) is a relatively common disease that can severely affect the quality of life of the patient. It causes chronic orofacial pain or oral burning sensation even in the absence of any detectable organic cause. The etiology of BMS is complex and multifactorial. It has been associated with menopause, trigger events and even genetic polymorphisms. Although its etiology remains unclear, there is still much evidence that psychological elements like stress, anxiety or depression do play a significant role. There are several studies in the literature which only report the association of BMS with psychological factors. But to the best of our knowledge, there is no such case reported in the literature which has actually highlighted the management of such a case with psychogenic elements involved. In this case report, apart from discussing the role of psychological factors, the treatment of BMS with emphasis on counseling is also emphasized. Further, it is of interest to know that such patients with psychologically induced burning mouth syndrome have to be evaluated to their deepest details. Even their commonly overlooked gestures and habits like watching a particular television soap opera may be involved in their disease process. It can be concluded that psychological counseling in general dental practice can provide an effective cure for chronic oral burning sensation with psychological factors involved. PMID:25093058

  9. Superior Mesenteric Artery Syndrome due to a Vertebral Hemangioma and Postpartum Osteoporosis following Treatment

    Directory of Open Access Journals (Sweden)

    Mehmet Elmadag

    2015-01-01

    Full Text Available In pregnancy, advanced vertebral hemangiomas may be seen, and these require treatment. The case reported here is of a 35-year-old female in the 32nd week of pregnancy who was admitted to the orthopaedics clinic with a history of backache and difficulty walking. A burst fracture of L1 associated with a vertebral hemangioma was identified with an L3 compression fracture secondary to osteoporosis. The local kyphosis angle between T12 and L2 was 27°. Kyphotic deformity was corrected and postoperatively, the measured T12–L2 local kyphotic angle was 9°. Twelve hours postoperatively, oral nutrition was allowed, but she developed nausea and vomiting and twenty-four hours postoperatively, an electrolyte imbalance developed. Postoperatively, the patient was diagnosed with superior mesenteric artery syndrome. To the best of our knowledge, this is the first reported case of superior mesenteric artery syndrome, which occurred following the correction of a kyphotic deformity that had developed secondary to an advanced hemangioma in pregnancy.

  10. Hypertensive crisis in pregnancy due to a metamorphosing pheochromocytoma with postdelivery Cushing's syndrome.

    Science.gov (United States)

    Langton, Katharina; Gruber, Matthias; Masjkur, Jimmy; Steenblock, Charlotte; Peitzsch, Mirko; Meinel, Jörn; Lenders, Jacques; Bornstein, Stefan; Eisenhofer, Graeme

    2018-01-01

    Pheochromocytomas in pregnancy are rare but potentially lethal. Even rarer is the combination of pheochromocytoma in pregnancy with subsequent development of ectopic Cushing's syndrome. We report a 36-year-old woman, previously diagnosed with essential hypertension, who developed severe hypertension in pregnancy complicated by insulin-dependent gestational diabetes. A cesarean section was performed at 32 weeks following a hypertensive crisis after routine administration of betamethasone. Postnatal persistence of signs and symptoms of catecholamine excess led to the diagnosis of a left adrenal pheochromocytoma. Between diagnosis and planned tumor removal, the patient developed signs and symptoms of Cushing's syndrome (facial edema and hirsutism, myopathy and fatigue). Biochemical testing confirmed hypercortisolism with extremely elevated levels of plasma adrenocorticotropin, urinary cortisol and multiple steroids of a plasma panel that were all normal at previous testing. The previously noradrenergic tumor also started producing epinephrine. Histopathological examination confirmed the pheochromocytoma, which was also immunohistochemically positive for adrenocorticotropin. Full post-surgical recovery was sustained with normal blood pressure and biochemical findings after one year. This report not only underlines the chameleon behavior of pheochromocytoma but also illustrates its potential for a metamorphosing presentation. Corticosteroid administration in pregnancy requires a cautious approach in patients with hypertension.

  11. Burning Mouth Syndrome due to Television Moans, an Enigma for Oral Physician: Treatment with Counseling

    Directory of Open Access Journals (Sweden)

    Deepak Gupta

    2014-06-01

    Full Text Available Burning mouth syndrome (BMS is a relatively common disease that can severely affect the quality of life of the patient. It causes chronic orofacial pain or oral burning sensation even in the absence of any detectable organic cause. The etiology of BMS is complex and multifactorial. It has been associated with menopause, trigger events and even genetic polymorphisms. Although its etiology remains unclear, there is still much evidence that psychological elements like stress, anxiety or depression do play a significant role. There are several studies in the literature which only report the association of BMS with psychological factors. But to the best of our knowledge, there is no such case reported in the literature which has actually highlighted the management of such a case with psychogenic elements involved. In this case report, apart from discussing the role of psychological factors, the treatment of BMS with emphasis on counseling is also emphasized. Further, it is of interest to know that such patients with psychologically induced burning mouth syndrome have to be evaluated to their deepest details. Even their commonly overlooked gestures and habits like watching a particular television soap opera may be involved in their disease process. It can be concluded that psychological counseling in general dental practice can provide an effective cure for chronic oral burning sensation with psychological factors involved.

  12. Fatal Pulmonary Embolism Due to Inherited Thrombophilia Factors in a Child With Wolfram Syndrome.

    Science.gov (United States)

    Küçüktaşçi, Kazim; Semiz, Serap; Balci, Yasemin Işik; Özsari, Tamer; Gürses, Dolunay; Önem, Gökhan; Saçar, Mustafa; Düzcan, Füsun; Yüksel, Doğangün; Semiz, Ender

    2016-10-01

    Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus (DM), optic atrophy, diabetes insipidus, and deafness. Poorly controlled type 1 DM increases the risk for thrombosis. However, coexistence of DM and hereditary thrombosis factors is rarely observed. Here we present the case of a 13.5-year-old, nonfollowed girl newly diagnosed with poorly controlled Wolfram syndrome on the basis of the results of clinical and laboratory examinations. On the eighth day after diabetic ketoacidosis treatment, pulmonary embolism developed in the subject. Thrombus identified in the right atrium using echocardiography was treated by emergency thrombectomy. Homozygous mutation in the methylenetetrahydrofolate reductase gene C677T, heterozygous factor-V Leiden mutation, and active protein C resistance were identified in the patient. The patient was lost because of a recurring episode of pulmonary embolism on the 86th day of hospitalization. We present this case to highlight the need for investigating hereditary thrombosis risk factors in diabetic patients in whom thromboembolism develops.

  13. Budd-Chiari and inferior caval vein syndromes due to membranous obstruction of the liver veins. Successful treatment with angioplasty and transcaval TIPS

    DEFF Research Database (Denmark)

    Holland-Fischer, Peter

    2004-01-01

    The case is presented of a 25-year-old Caucasian patient with Budd-Chiari syndrome due to membranous obstruction of the liver veins and inferior caval vein syndrome as a result of secondary hyperplasia of the caudate lobe of the liver, obstructing the caval vein. Diagnosis was established...... that angioplasty and TIPS are safe and efficient procedures to reduce liver engorgement and complications of portal hypertension in selected patients with Budd-Chiari syndrome....

  14. Stevens-Johnson syndrome and toxic epidermal necrolysis due to anticonvulsants share certain clinical and laboratory features with drug-induced hypersensitivity syndrome, despite differences in cutaneous presentations.

    Science.gov (United States)

    Teraki, Y; Shibuya, M; Izaki, S

    2010-10-01

    Drug-induced hypersensitivity syndrome (DIHS)/drug rash with eosinophilia and systemic symptoms (DRESS) syndrome is characterized by late disease onset, fever, rash, hepatic dysfunction, haematological abnormalities, lymphadenopathy and often, human herpesvirus (HHV) reactivation. The diagnosis of DIHS is based on the combined presence of these findings. Anticonvulsants are a major cause of DIHS and may also cause Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). We examined whether SJS/TEN due to anticonvulsants display similar clinical and laboratory features seen in DIHS. Patients diagnosed with SJS or TEN due to anticonvulsants (n = 8) were examined and their clinical features and laboratory findings were compared with patients with anticonvulsant-related DIHS (n = 6). Seven of the eight patients with SJS/TEN developed symptoms > 3 weeks after starting anticonvulsants. Hepatic dysfunction was present in six patients with SJS/TEN and five patients with DIHS. Leucocytosis and/or eosinophilia was noted in seven patients with SJS/TEN and four patients with DIHS. Only one patient in the SJS/TEN group had atypical lymphocytosis; this was present in four patients with DIHS. Reactivation of HHV-6 was detected in one of the four patients tested in the SJS/TEN group, although it was seen in five of the six patients with DIHS. TSJS/TEN due to anticonvulsants may exhibit some clinical and laboratory features of DIHS. The nature of the cutaneous involvement should be emphasized in the diagnosis of DIHS. © 2009 The Author(s). Journal compilation © 2009 British Association of Dermatologists.

  15. Abdominal intra-compartment syndrome - a non-hydraulic model of abdominal compartment syndrome due to post-hepatectomy hemorrhage in a man with a localized frozen abdomen due to extensive adhesions: a case report.

    Science.gov (United States)

    Bressan, Alexsander K; Kirkpatrick, Andrew W; Ball, Chad G

    2016-09-15

    Postoperative hemorrhage is a significant cause of morbidity and mortality following liver resection. It typically presents early within the postoperative period, and conservative management is possible in the majority of cases. We present a case of late post-hepatectomy hemorrhage associated with overt abdominal compartment syndrome resulting from a localized functional compartment within the abdomen. A 68-year-old white man was readmitted with sudden onset of upper abdominal pain, vomiting, and hemodynamic instability 8 days after an uneventful hepatic resection for metachronous colon cancer metastasis. A frozen abdomen with adhesions due to complicated previous abdominal surgeries was encountered at the first intervention, but the surgery itself and initial recovery were otherwise unremarkable. Prompt response to fluid resuscitation at admission was followed by a computed tomography of his abdomen that revealed active arterial hemorrhage in the liver resection site and hemoperitoneum (estimated volume abdominal compartment syndrome. Surgical exploration confirmed a small volume of ascites and blood clots (1.2 L) under significant pressure in his supramesocolic region, restricted by his frozen lower abdomen, which we evacuated. Dramatic improvement in his ventilatory pressure was immediate. His abdomen was left open and a negative pressure device was placed for temporary abdominal closure. The fascia was formally closed after 48 hours. He was discharged home at postoperative day 6. Intra-abdominal pressure and radiologic findings of intra-abdominal hemorrhage should be carefully interpreted in patients with extensive intra-abdominal adhesions. A high index of suspicion and detailed understanding of abdominal compartment mechanics are paramount for the timely diagnosis of abdominal compartment syndrome in these patients. Clinicians should be aware that abnormal anatomy (such as adhesions) coupled with localized pathophysiology (such as hemorrhage) can create a so

  16. Waardenburg syndrome: a rare cause of inherited neuropathy due to SOX10 mutation.

    Science.gov (United States)

    Bogdanova-Mihaylova, Petya; Alexander, Michael D; Murphy, Raymond P J; Murphy, Sinéad M

    2017-09-01

    Waardenburg syndrome (WS) is a rare disorder comprising sensorineural deafness and pigmentation abnormalities. Four distinct subtypes are defined based on the presence or absence of additional symptoms. Mutations in six genes have been described in WS. SOX10 mutations are usually associated with a more severe phenotype of WS with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, and Hirschsprung disease. Here we report a 32-year-old man with a novel heterozygous missense variant in SOX10 gene, who presented with congenital deafness, Hirschsprung disease, iris heterochromia, foot deformity, and intermediate conduction velocity length-dependent sensorimotor neuropathy. This case highlights that the presence of other non-neuropathic features in a patient with presumed hereditary neuropathy should alert the clinician to possible atypical rare causes. © 2017 Peripheral Nerve Society.

  17. Fetal and neonatal abnormalities due to congenital rubella syndrome: a review of literature.

    Science.gov (United States)

    Yazigi, Alexandre; De Pecoulas, Aurelia Eldin; Vauloup-Fellous, Christelle; Grangeot-Keros, Liliane; Ayoubi, Jean-Marc; Picone, Olivier

    2017-02-01

    Rubella virus infection during the first trimester of pregnancy can cause congenital rubella syndrome (CRS). We aimed to describe the abnormalities in order to define the ultrasound features to look for when performing prenatal scans. The goal of this review is to focus specifically on the signs of CRS accessible to prenatal diagnosis. We analyzed every case of CRS described before and/or after birth that we identified in the Pubmed database and classified them as accessible or not to prenatal diagnosis. The most frequently reported malformations accessible to prenatal diagnosis were: cardiac septal defects, pulmonary artery stenosis, microcephaly, cataract, microphtalmia, and hepatosplenomegaly. This extensive literature review shows that the ultrasound features of CRS are not well known, even though rubella was the first teratogenic virus described. This review will help clinicians in the management of rubella during pregnancy by clarifying the findings to be sought.

  18. RENOVASCULAR HYPERTENSION DUE TO RENAL ARTERY STENOSIS IN KLIPPEL-FEIL SYNDROME

    Directory of Open Access Journals (Sweden)

    Foyaca-Sibat H. MD.

    2003-01-01

    Full Text Available ABSTRACT We report one patient with Klippel-Feil (KFS syndrome, other associated anomalies, uncontrolled arterial hypertension, and renal artery stenosis. Because this patient underwent for surgical revascularization with unsuccessful result, all proposed way of treatments are revised, and we have hypothesized that probably for patients with KFS and unilateral renal artery stenosis, medical treatment with ACE inhibitors can provide more benefits than surgical revascularization or percutaneous transluminal angioplasty. We considered that those patients should be manage by a team of medical doctors being aware of their common associated anomalies, identifying all of them when it is possible then, making an integral evaluation of the each individual situation for establishing their medical priorities in order, and then address its treatments accordingly. If at this stage any surgical treatment is required, is important to bring those problems to the anesthesiologist’s attention for a very careful manipulation of the neck and head during induction of anesthesia. The final results will be strongly related with the capacity of management of the underlying cardio-respiratory, renal, skeletal, urogenital, and nervous system problems. . We also propose the term of Klippel-Feil syndrome "Plus" for those patients with cervical vertebral fusion and many other associated deformities rather than to add new eponyms to the long list that already exist. _____________ RESUMEN: HIPERTENSION RENOVASCULAR DEBIDO A ESTENOSIS DE LA ARTERIA RENAL EN EL SÍNDROME DE KLIPPEL-FEIL Reportamos un paciente afectado por un syndrome de Klippel-Feil, otras anormalias congenitas, hipertension arterial incontrolada y una estenosis unilateral de la arteria renal. Este paciente fue sometido a un tratamiento quirÚrgico de la estenosis de la arteria renal, cuyos resultados fueron no satisfactorios por lo que revisamos todas las alternativas de tratamiento para la estenosis

  19. A repeated carpal tunnel syndrome due to tophaceous gout in flexor tendon: A case report.

    Science.gov (United States)

    Lu, Hui; Chen, Qiang; Shen, Hui

    2017-03-01

    Gouty tophi is a rare cause of CTS. We first report a unique case of repeated CTS with gouty tophi in flexor tendon. In the previous literature, the symptoms cases of CTS were gradually increased. We report a 44-year-old male porter presented with mass on his left distal forearm combined a repeated carpal tunnel syndrome for 5 years. He felt numbness in fingers and his left palmar. The CTS symptoms had been eased through rest and dugs medication. It recurred twice. Monosodium urate crystal deposits were found in surgery. Histologic findings confirmed the diagnosis of gout. We removed partial of gouty tophus and retained the integrity of the tendon. Two years after the surgery, the patient had not experienced any symptom recurrence. Early diagnosis and control of gout are necessary to avoid irreversible complications. The surgery combined with decreasing trioxypurine treatment can improve the treatment outcome of gouty tophus.

  20. A repeated carpal tunnel syndrome due to tophaceous gout in flexor tendon

    Science.gov (United States)

    Lu, Hui; Chen, Qiang; Shen, Hui

    2017-01-01

    Abstract Rationale: Gouty tophi is a rare cause of CTS. We first report a unique case of repeated CTS with gouty tophi in flexor tendon. In the previous literature, the symptoms cases of CTS were gradually increased. Patient concerns: We report a 44-year-old male porter presented with mass on his left distal forearm combined a repeated carpal tunnel syndrome for 5 years. He felt numbness in fingers and his left palmar. The CTS symptoms had been eased through rest and dugs medication. It recurred twice. Diagnoses: Monosodium urate crystal deposits were found in surgery. Histologic findings confirmed the diagnosis of gout. Interventions: We removed partial of gouty tophus and retained the integrity of the tendon. Outcomes: Two years after the surgery, the patient had not experienced any symptom recurrence. Lessons: Early diagnosis and control of gout are necessary to avoid irreversible complications. The surgery combined with decreasing trioxypurine treatment can improve the treatment outcome of gouty tophus. PMID:28248892

  1. Eosinophilic myocarditis due to Churg-Strauss syndrome mimicking reversible dilated cardiomyopathy.

    Science.gov (United States)

    Chen, Ming-xian; Yu, Bi-lian; Peng, Dao-quan; Zhou, Sheng-hua

    2014-01-01

    A 41-year-old woman with a history of asthma arrived at the emergency room of our hospital with dyspnea. The electrocardiogram showed no specific results. Echocardiography defects revealed an obvious decrease in the left ventricular systolic function and enlargement of the left chamber. We initially considered her condition to be dilated cardiomyopathy. However, she had eosinophilia in the peripheral blood and elevated cardiac enzymes. The coronary angiography showed normal coronary arteries. Single photon emission computed tomography (SPECT) showed infiltrative myocardial disease. She was then diagnosed with eosinophil infiltrations. Combined with peripheral nerve injury and lung involvement, she was diagnosed as having Churg-Strauss syndrome. After initiating prednisone treatment, her eosinophilia and rising cardiac enzymes recovered to normal, and both her echocardiographic abnormalities and symptoms noticeably improved. Copyright © 2014 Elsevier Inc. All rights reserved.

  2. Subarachnoid hemorrhage due to ruptured intracranial aneurysm following posterior reversible encephalopathy syndrome

    Directory of Open Access Journals (Sweden)

    Takamasa Nanba

    2016-01-01

    Full Text Available Although posterior reversible encephalopathy syndrome (PRES is rarely associated with subarachnoid hemorrhage, to our knowledge, rupture of a concomitant cerebral aneurysm following PRES has not been reported. We describe a patient with atypical PRES involving the brainstem, thalamus, and periventricular white matter without cortical or subcortical edema of the parietooccipital lobe on magnetic resonance imaging, with rupture of a concomitant cerebral aneurysm. Preexisting extremely high blood pressure may trigger atypical PRES, and failure to lower blood pressure may lead to a concomitant aneurysm rupture. In the future treatment of hypertensive urgency with a recurrence of symptoms and mean arterial blood pressure >150 mmHg, it is advisable to immediately hospitalize the patient for aggressive blood pressure management, especially if PRES is suspected based on clinical and radiological features.

  3. [Long QT syndrome and polymorphic ventricular tachycardia due to hypopituitarism. Report of one case].

    Science.gov (United States)

    García-Castro, José Miguel; García-Martín, Antonia; Guirao-Arrabal, Emilio; Carrillo-Alascio, Pedro Luis

    2017-07-01

    Symptoms of hypopituitarism are usually chronic and nonspecific, but rarely the disease can have acute and life threatening manifestations. We report a 53 years old female with a pituitary adenoma that was admitted to our hospital because of syncope. The electrocardiogram showed sinus bradycardia with a prolonged QT interval. Frequent runs of non-sustained polymorphic ventricular tachycardia were noted on telemetry. The patient had a history of severe acute headaches in the previous days and laboratory tests revealed severe secondary hypothyroidism, adrenal insufficiency and a decrease in pituitary hormones. A magnetic resonance imaging of the head showed changes in the size and contrast enhancement of the adenoma. A diagnosis of hypopituitarism secondary to pituitary apoplexy was made and treatment with hydrocortisone and, subsequently, levothyroxine was started. Hormonal disorders such as hypothyroidism, adrenal insufficiency or hypopituitarism should be considered as unusual causes for reversible cardiomyopathy, long QT syndrome and ventricular arrhythmias.

  4. Thyrotoxicosis followed by Hypothyroidism due to Suppurative Thyroiditis Caused by Nocardia brasiliensis in a Patient with Advanced Acquired Immunodeficiency Syndrome.

    Science.gov (United States)

    Teckie, G2; Bhana, S A; Tsitsi, J M L; Shires, R

    2014-03-01

    Acute thyroiditis is an extremely rare complication of nocardiosis. We report a patient with hyperthyroidism due to suppurative thyroiditis caused by Nocardia brasiliensis. A 38-year-old Black male presented with features of thyrotoxicosis, sepsis and airway obstruction. He had no evidence of underlying thyroid disease, but was severely immunocompromised as a result of acquired immunodeficiency syndrome. He had previously been diagnosed with pulmonary nocardiosis and also had nocardial abscesses on his anterior chest wall. Investigations revealed thyrotoxicosis, with a FT4 of 43.2 pmol/l and a suppressed TSH Nocardia.

  5. MERRF/MELAS overlap syndrome due to the m.3291T>C mutation.

    Science.gov (United States)

    Liu, Kaiming; Zhao, Hui; Ji, Kunqian; Yan, Chuanzhu

    2014-03-01

    We report the case of a 19-year-old Chinese female harboring the m.3291T>C mutation in the MT-TL1 gene encoding the mitochondrial transfer RNA for leucine. She presented with a complex phenotype characterized by progressive cerebellar ataxia, frequent myoclonus seizures, recurrent stroke-like episodes, migraine-like headaches with nausea and vomiting, and elevated resting lactate blood level. It is known that the myoclonus epilepsy with ragged-red fibers (MERRF) is characterized by cerebellar ataxia and myoclonus epilepsy, while that the mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is characterized by recurrent stroke-like episodes, migraine-like headaches, and elevated resting lactate blood level. So the patient's clinical manifestations suggest the presence of a MERRF/MELAS overlap syndrome. Muscle biopsy of the patient showed the presence of numerous scattered ragged-red fibers, some cytochrome c oxidase-deficient fibers, and several strongly succinate dehygrogenase-reactive vessels, suggestive of a mitochondrial disorder. Direct sequencing of the complete mitochondrial genome of the proband revealed no mutations other than the T-to-C transition at nucleotide position 3291. Restriction fragment length polymorphism analysis of the proband and her family revealed maternal inheritance of the mutation in a heteroplasmic manner. The analysis of aerobic respiration and glycolysis demonstrated that the fibroblasts from the patient had mitochondrial dysfunction. Our results suggest that the m.3291T>C is pathogenic. This study is the first to describe the m.3291T>C mutation in association with the MERRF/MELAS overlap syndrome.

  6. MULTIPLE SPINAL CANAL MENINGIOMAS

    Directory of Open Access Journals (Sweden)

    Nandigama Pratap Kumar

    2016-10-01

    Full Text Available BACKGROUND Meningiomas of the spinal canal are common tumours with the incidence of 25 percent of all spinal cord tumours. But multiple spinal canal meningiomas are rare in compare to solitary lesions and account for 2 to 3.5% of all spinal meningiomas. Most of the reported cases are both intra cranial and spinal. Exclusive involvement of the spinal canal by multiple meningiomas are very rare. We could find only sixteen cases in the literature to the best of our knowledge. Exclusive multiple spinal canal meningiomas occurring in the first two decades of life are seldom reported in the literature. We are presenting a case of multiple spinal canal meningiomas in a young patient of 17 years, who was earlier operated for single lesion. We analysed the literature, with illustration of our case. MATERIALS AND METHODS In September 2016, we performed a literature search for multiple spinal canal meningiomas involving exclusively the spinal canal with no limitation for language and publication date. The search was conducted through http://pubmed.com, a wellknown worldwide internet medical address. To the best of our knowledge, we could find only sixteen cases of multiple meningiomas exclusively confined to the spinal canal. Exclusive multiple spinal canal meningiomas occurring in the first two decades of life are seldom reported in the literature. We are presenting a case of multiple spinal canal meningiomas in a young patient of 17 years, who was earlier operated for solitary intradural extra medullary spinal canal meningioma at D4-D6 level, again presented with spastic quadriparesis of two years duration and MRI whole spine demonstrated multiple intradural extra medullary lesions, which were excised completely and the histopathological diagnosis was transitional meningioma. RESULTS Patient recovered from his weakness and sensory symptoms gradually and bladder and bowel symptoms improved gradually over a period of two to three weeks. CONCLUSION Multiple

  7. Three root canals in the maxillary second premolar

    Directory of Open Access Journals (Sweden)

    de Almeida-Gomes Fabio

    2009-01-01

    Full Text Available In this study, we report an endodontic treatment of the maxillary second premolar with three root canals and distinct foramens. The possibility of three root canals in this tooth is quite small; however, it must be taken into account in clinical and radiographic evaluation during endodontic treatment. Many times, their presence is noticed only after canal treatment due to continuing post-operative discomfort.

  8. Design of canals

    CERN Document Server

    Swamee, P K

    2015-01-01

    The book presents firsthand material from the authors on design of hydraulic canals. The book discusses elements of design based on principles of hydraulic flow through canals. It covers optimization of design based on usage requirements and economic constraints. The book includes explicit design equations and design procedures along with design examples for varied cases. With its comprehensive coverage of the principles of hydraulic canal design, this book will prove useful to students, researchers, and practicing engineers. End-of-chapter pedagogical elements make it ideal for use in graduate courses on hydraulic structures offered by most civil engineering departments across the world.

  9. Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene.

    Science.gov (United States)

    Bornstein, Belén; Area, Estela; Flanigan, Kevin M; Ganesh, Jaya; Jayakar, Parul; Swoboda, Kathryn J; Coku, Jorida; Naini, Ali; Shanske, Sara; Tanji, Kurenai; Hirano, Michio; DiMauro, Salvatore

    2008-06-01

    Mitochondrial DNA depletion syndrome (MDS) is characterized by a reduction in mtDNA copy number and has been associated with mutations in eight nuclear genes, including enzymes involved in mitochondrial nucleotide metabolism (POLG, TK2, DGUOK, SUCLA2, SUCLG1, PEO1) and MPV17. Recently, mutations in the RRM2B gene, encoding the p53-controlled ribonucleotide reductase subunit, have been described in seven infants from four families, who presented with various combinations of hypotonia, tubulopathy, seizures, respiratory distress, diarrhea, and lactic acidosis. All children died before 4 months of age. We sequenced the RRM2B gene in three unrelated cases with unexplained severe mtDNA depletion. The first patient developed intractable diarrhea, profound weakness, respiratory distress, and died at 3 months. The other two unrelated patients had a much milder phenotype and are still alive at ages 27 and 36 months. All three patients had lactic acidosis and severe depletion of mtDNA in muscle. Muscle histochemistry showed RRF and COX deficiency. Sequencing the RRM2B gene revealed three missense mutations and two single nucleotide deletions in exons 6, 8, and 9, confirming that RRM2B mutations are important causes of MDS and that the clinical phenotype is heterogeneous and not invariably fatal in infancy.

  10. First reported case of reactive airway dysfunction syndrome in a laborer due to porcelain tile dust.

    Science.gov (United States)

    Arif, Tasleem; Malik, Javid Ahmad; Shoib, Sheikh

    2013-06-01

    Reactive airway dysfunction syndrome (RADS) is a type of non-immunologically mediated asthma-like disease. It usually occurs after a massive exposure to an irritating substance in the atmosphere in the form of smoke, fumes, gases, and vapor. Unlike bronchial asthma, there is no latency to the symptoms seen in RADS. A number of agents are known to cause RADS, but tile dust, as an etiological agent, has not been previously reported. We report a 45-year-old male laborer, who presented with an acute onset of cough, chest tightness, breathlessness, and audible wheeze after his first time exposure to porcelain tile dust within 5 hours of exposure. Lab tests, including, chest X-ray, electrocardiogram, air blood gas analysis, and serum IgE, were unremarkable. Spirometry showed a mild obstruction [forced expiratory volume in 1 second (FEV1)=72% of predicted], while the bronchodilator reversibility test was significant(14% increase in FEV1 above the baseline).Bronchial biopsy revealed a chronic inflammatory reaction with lymphocytic and plasma cell infiltration and more importantly a striking absence of eosinophils. To the best of our knowledge, this is the first reported case of RADS as a result of exposure to tile dust (porcelain ceramics).

  11. Occult Breast Cancer due to Multiple Calcified Hamartomas in a Patient with Cowden Syndrome

    Directory of Open Access Journals (Sweden)

    E. B. Gómez García

    2012-01-01

    Full Text Available Cowden syndrome (CS is an autosomal dominant disorder characterized by presence of multiple hamartomas, and other benign and malignant abnormalities of the breasts, skin, thyroid, endometrium, gastrointestinal tract, and central nervous system. Hamartomas are benign, developmentally disorganized tumors that can develop in any of the above mentioned organs. The presence of massive calcifications in the breasts in very young women is an indication to perform a breast MRI to exclude a neoplasm since, like in the current case report, presence of breast calcifications may obscure a neoplasm. Although fibrocystic disease and cooccurrence of fibrocystic disease and breast cancer are much more common than CS, the presence of massive calcifications in the breasts of very young women should elicit the possibility of an underlying genetic disease. Furthermore, breast cancer and macrocephaly are considered major criteria for the diagnosis of CS and the combination of both is enough to establish the clinical diagnosis of this entity. Fibrocystic disease of the breasts and multinodular goiter are minor criteria. Family history is also important for the diagnosis of (any hereditary disease.

  12. Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor.

    Science.gov (United States)

    Batista, Rafael Loch; Rodrigues, Andresa De Santi; Machado, Aline Zamboni; Nishi, Mirian Yumie; Cunha, Flávia Siqueira; Silva, Rosana Barbosa; Costa, Elaine M F; Mendonca, Berenice B; Domenice, Sorahia

    2018-01-26

    Androgen insensitivity syndrome (AIS) is the most frequent etiology of 46,XY disorders of sex development (DSDs), and it is an X-linked disorder caused by mutations in the androgen receptor (AR) gene. AIS patients present a broad phenotypic spectrum and individuals with a partial phenotype present with different degrees of undervirilized external genitalia. There are more than 500 different AR gene allelic variants reported to be linked to AIS, but the presence of somatic mosaicisms has been rarely identified. In the presence of a wild-type AR gene, a significant degree of spontaneous virilization at puberty can be observed, and it could influence the gender assignment, genetic counseling and the clinical and psychological management of these patients and the psychosexual outcomes of these patients are not known. In this study, we report two patients with AR allelic variants in heterozygous (c.382G>T and c.1769-1G>C) causing a partial AIS (PAIS) phenotype. The first patient was raised as female and she had undergone a gonadectomy at puberty. In both patients there was congruency between gender of rearing and gender identity and gender role. Somatic mosaicism is rare in AIS and nonsense AR variant allelic can cause partial AIS phenotype in this situation. Despite the risk of virilization and prenatal androgen exposure, the gender identity and gender role was concordant with sex of rearing in both cases. A better testosterone response can be expected in male individuals and this should be considered in the clinical management.

  13. Corticobasal syndrome due to sporadic Creutzfeldt-Jakob disease: a review and neuropsychological case report.

    Science.gov (United States)

    González, David Andrés; Soble, Jason R

    2017-04-01

    Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive, and fatal neurodegenerative disease with neuropsychological sequelae. This study highlighted a rare presentation of CJD (e.g. corticobasal syndrome [CBS]), reviewed updated diagnostic criteria and procedures for CJD (e.g. diffusion weighted imaging [DWI], real-time quaking-induced conversion [RT-QuIC]), and discussed differential diagnoses. Case report methodology focused on a 68-year-old, Hispanic, right-handed man with 11 years of education. He presented with a 1-2-month history of gait and motor difficulties (e.g. rigidity, myoclonus). After evaluation, a 'cortical ribboning' pattern on DWI and positive RT-QuIC was integrated with performance on neurobehavioral exam (i.e. alien limb phenomenon, unilateral ideomotor apraxia) and neuropsychological testing (i.e. frontal-parietal dysfunction pattern) to reach a diagnosis of sCJD-CBS. The patient expired 3 months after onset of symptoms. This literature review and case report highlighted the importance of staying abreast of developments in neurological literature and the added value of neuropsychology, when integrated with newer procedures, for confirming and excluding diagnostic considerations.

  14. Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy.

    Science.gov (United States)

    Santoro, Stephanie L; Hashimoto, Sayaka; McKinney, Aimee; Mihalic Mosher, Theresa; Pyatt, Robert; Reshmi, Shalini C; Astbury, Caroline; Hickey, Scott E

    2017-01-01

    Maternal uniparental disomy (UPD) 15 is one of the molecular causes of Prader-Willi syndrome (PWS), a multisystem disorder which presents with neonatal hypotonia and feeding difficulty. Current diagnostic algorithms differ regarding the use of SNP microarray to detect PWS. We retrospectively examined the frequency with which SNP microarray could identify regions of homozygosity (ROH) in patients with PWS. We determined that 7/12 (58%) patients with previously confirmed PWS by methylation analysis and microsatellite-positive UPD studies had ROH (>10 Mb) by SNP microarray. Additional assessment of 5,000 clinical microarrays, performed from 2013 to present, determined that only a single case of ROH for chromosome 15 was not caused by an imprinting disorder or identity by descent. We observed that ROH for chromosome 15 is rarely incidental and strongly associated with hypotonic infants having features of PWS. Although UPD microsatellite studies remain essential to definitively establish the presence of UPD, SNP microarray has important utility in the timely diagnostic algorithm for PWS. © 2017 S. Karger AG, Basel.

  15. An infant with hyperalertness, hyperkinesis, and failure to thrive: a rare diencephalic syndrome due to hypothalamic anaplastic astrocytoma.

    Science.gov (United States)

    Stival, Alessia; Lucchesi, Maurizio; Farina, Silvia; Buccoliero, Anna Maria; Castiglione, Francesca; Genitori, Lorenzo; de Martino, Maurizio; Sardi, Iacopo

    2015-09-04

    Diencephalic Syndrome is a rare clinical condition of failure to thrive despite a normal caloric intake, hyperalertness, hyperkinesis, and euphoria usually associated with low-grade hypothalamic astrocytomas. We reported an unusual case of diencephalic cachexia due to hypothalamic anaplastic astrocytoma (WHO-grade III). Baseline endocrine function evaluation was performed in this patient before surgery. After histological diagnosis, he enrolled to a chemotherapy program with sequential high-dose chemotherapy followed by hematopoietic stem cell rescue. The last MRI evaluation showed a good response. The patient is still alive with good visual function 21 months after starting chemotherapy. Diencephalic cachexia can rarely be due to high-grade hypothalamic astrocytoma. We suggest that a nutritional support with chemotherapy given to high doses without radiotherapy could be an effective strategy for treatment of a poor-prognosis disease.

  16. Frequency of Cushing's syndrome due to ACTH-secreting adrenal medullary lesions: a retrospective study over 10 years from a single center.

    Science.gov (United States)

    Falhammar, Henrik; Calissendorff, Jan; Höybye, Charlotte

    2017-01-01

    Cushing's syndrome due to ectopic adrenocorticotropic hormone production from adrenal medullary lesions has occasionally been described. We retrospectively reviewed all 164 cases of Cushing's syndrome and 77 cases of pheochromocytomas during 10 years. Of all cases with Cushing's syndrome, only two cases (1.2 %) were due to ectopic adrenocorticotropic hormone production from adrenal medullary lesions (one case of pheochromocytoma and one case of adrenal medullary hyperplasia). Of all pheochromocytomas only the above-mentioned case (1.3 %) also gave rise to an ectopic adrenocorticotropic hormone syndrome. The clinical presentation of adrenocorticotropic hormone-secreting pheochromocytoma and adrenal medullary hyperplasia can be anything from mild to dramatic. These are rare conditions important to bear in mind in the workup of a patient with Cushing's syndrome or with pheochromocytoma. The identification of ectopic adrenocorticotropic hormone secretion from adrenal medullary lesions can be life-saving.

  17. Retinal disease course in Usher syndrome 1B due to MYO7A mutations.

    Science.gov (United States)

    Jacobson, Samuel G; Cideciyan, Artur V; Gibbs, Dan; Sumaroka, Alexander; Roman, Alejandro J; Aleman, Tomas S; Schwartz, Sharon B; Olivares, Melani B; Russell, Robert C; Steinberg, Janet D; Kenna, Margaret A; Kimberling, William J; Rehm, Heidi L; Williams, David S

    2011-10-07

    PURPOSE. To determine the disease course in Usher syndrome type IB (USH1B) caused by myosin 7A (MYO7A) gene mutations. METHODS. USH1B patients (n = 33, ages 2-61) representing 25 different families were studied by ocular examination, kinetic and chromatic static perimetry, dark adaptometry, and optical coherence tomography (OCT). Consequences of the mutant alleles were predicted. RESULTS. All MYO7A patients had severely abnormal ERGs, but kinetic fields revealed regional patterns of visual loss that suggested a disease sequence. Rod-mediated vision could be lost to different degrees in the first decades of life. Cone vision followed a more predictable and slower decline. Central vision ranged from normal to reduced in the first four decades of life and thereafter was severely abnormal. Dark adaptation kinetics was normal. Photoreceptor layer thickness in a wide region of central retina could differ dramatically between patients of comparable ages; and there were examples of severe losses in childhood as well as relative preservation in patients in the third decade of life. Comparisons were made between the mutant alleles in mild versus more severe phenotypes. CONCLUSIONS. A disease sequence in USH1B leads from generally full but impaired visual fields to residual small central islands. At most disease stages, there was preserved temporal peripheral field, a potential target for early phase clinical trials of gene therapy. From data comparing patients' rod disease in this cohort, the authors speculate that null MYO7A alleles could be associated with milder dysfunction and fewer photoreceptor structural losses at ages when other genotypes show more severe phenotypes.

  18. Retinal Disease Course in Usher Syndrome 1B Due to MYO7A Mutations

    Science.gov (United States)

    Jacobson, Samuel G.; Cideciyan, Artur V.; Gibbs, Dan; Sumaroka, Alexander; Roman, Alejandro J.; Aleman, Tomas S.; Schwartz, Sharon B.; Olivares, Melani B.; Russell, Robert C.; Steinberg, Janet D.; Kenna, Margaret A.; Kimberling, William J.; Rehm, Heidi L.; Williams, David S.

    2011-01-01

    Purpose. To determine the disease course in Usher syndrome type IB (USH1B) caused by myosin 7A (MYO7A) gene mutations. Methods. USH1B patients (n = 33, ages 2–61) representing 25 different families were studied by ocular examination, kinetic and chromatic static perimetry, dark adaptometry, and optical coherence tomography (OCT). Consequences of the mutant alleles were predicted. Results. All MYO7A patients had severely abnormal ERGs, but kinetic fields revealed regional patterns of visual loss that suggested a disease sequence. Rod-mediated vision could be lost to different degrees in the first decades of life. Cone vision followed a more predictable and slower decline. Central vision ranged from normal to reduced in the first four decades of life and thereafter was severely abnormal. Dark adaptation kinetics was normal. Photoreceptor layer thickness in a wide region of central retina could differ dramatically between patients of comparable ages; and there were examples of severe losses in childhood as well as relative preservation in patients in the third decade of life. Comparisons were made between the mutant alleles in mild versus more severe phenotypes. Conclusions. A disease sequence in USH1B leads from generally full but impaired visual fields to residual small central islands. At most disease stages, there was preserved temporal peripheral field, a potential target for early phase clinical trials of gene therapy. From data comparing patients' rod disease in this cohort, the authors speculate that null MYO7A alleles could be associated with milder dysfunction and fewer photoreceptor structural losses at ages when other genotypes show more severe phenotypes. PMID:21873662

  19. Protective effect of L-Cysteine upon leukopenic syndrome due to radiotherapy

    Energy Technology Data Exchange (ETDEWEB)

    Jingu, K; Matsuura, K [Kyushu Univ., Fukuoka (Japan). Faculty of Medicine; Bussaka, Y

    1981-08-01

    L-Cysteine, glutathione, inosine, and cepharanthin are the agents which have been widely used to prevent and treat the leukopenic syndrome following radiotherapy. Among these, the efficacy of inosine has been demonstrated in a double-blind comparative study. A double-blind controlled study of L-Cysteine compared to inosine and lactose-placebo was performed. Patients designated to receive radiotherapy for cancer of the lung, breast and uterine cervix were randomly allocated to 3 groups; namely, those to receive L-Cysteine 480 mg TID (CG group), inosine 1,800 mg TID (IN group) and placebo capsules (PL group) for 6 to 7 weeks. Among 159 cases, 152 were subjected to statistical analyses, and the latter consisted of 54 CG, 52 IN and 46 PL subjects. Any discrepancies among these 3 groups concerning sex, age, disease, WBC count, radiation procedure, or combined use of carcinostatics were negligible. According to the life-table analysis, the cumulative rates for the 3 groups were compared with respect to maintenance of WBC counts higher than 4,000/mm/sup 3/. Maintenance was best in the CG group, intermediate in the IN, and poorest in the PL group, the difference between CG and PL being statistically significant at the 5% level. Similar results were obtained in separate analyses of strata with and without concomitant carcinostatics. Furthermore, nearly the same results were obtained as those in the life-table analyses when data concerning efficacy and clinical usefulness as judged by physicians were analyzed. The present study indicates that the oral administration of L-Cysteine is safe and effective in preventing and treating leukopenic complications associated with radiotherapy.

  20. Care in post-traumatic syndrome due to gender violence: a case report.

    Science.gov (United States)

    Sánchez-Herrero, Héctor; Duarte-Clíments, Gonzalo; González-Pérez, Teodoro; Sánchez-Gómez, María Begoña; Gomariz-Bolarín, David

    This article describes a clinical case of a patient attended at a continuous care point for a generalized anxiety disorder, principally due to abuse suffered from her ex partner. The patient was followed up at family nursing clinic, and the appropriate nursing interventions were developed to cover a series of needs prioritized by nurses using the AREA method and taking into account the prioritization of the user herself. Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

  1. Root canal treatment of mandibular second premolar tooth with taurodontism

    Directory of Open Access Journals (Sweden)

    Vujašković Mirjana

    2008-01-01

    Full Text Available INTRODUCTION Taurodontism is a morphoanatomical change in the shape of a tooth. An enlarged body of a tooth with smaller than usual roots is a characteristic feature. Internal tooth anatomy correlates with this appearance, which means that a taurodontal tooth has a large pulp chamber and apically positioned furcations. This dental anomaly may be associated with different syndromes and congenital discoders. CASE OUTLINE The case report presents the patient of a rare case of taurodontism in the mandibular second premolar with chronic periodontitis. Endodontic treatment was performed after dental history and clinical examination. Special care is required in all segments of endodontic treatment of a taurodontal tooth from the identification orifice, canal exploration, determining working length, cleaning and shaping and obturation of the root canal. Precurved K-file was used for canal exploration and location of the furcation. One mesial and one distal canal with the buccal position were identified in the apical third of the root canal. The working lengths of two canals were determined by radiographic interpretation with two K-files in each canal and verified with the apex locator. During canal instrumentation, the third canal was located in the disto-lingual position. The working length of the third canal was established using the apex locator. CONCLUSION Thorough knowledge of tooth anatomy and its variations can lead to lower percentage of endodontic failure. Each clinical case involving these teeth should be investigated carefully, clinically and radiographically to detect additional root canals. High quality radiographs from different angles and proper instrumentarium improve the quality of endodontic procedure.

  2. Canal of Nuck hernia: a multimodality imaging review

    Energy Technology Data Exchange (ETDEWEB)

    Rees, Mitchell A. [University of Pittsburgh Medical Center, Department of Radiology, Pittsburgh, PA (United States); Squires, James E. [Children' s Hospital of Pittsburgh of UPMC, Department of Gastroenterology, Pittsburgh, PA (United States); Tadros, Sameh; Squires, Judy H. [University of Pittsburgh Medical Center, Department of Radiology, Pittsburgh, PA (United States); Children' s Hospital of Pittsburgh of UPMC, Department of Radiology, Pittsburgh, PA (United States)

    2017-07-15

    Canal of Nuck abnormalities are a rare but important cause of morbidity in girls, most often those younger than 5 years of age. The canal of Nuck, which is the female equivalent of the male processus vaginalis, is a protrusion of parietal peritoneum that extends through the inguinal canal and terminates in the labia majora. The canal typically obliterates early in life, but in some cases the canal can partially or completely fail to close, potentially resulting in a hydrocele or hernia of pelvic contents. Recognition of this entity is especially important in cases of ovarian hernia due to the risk of incarceration and torsion. We aim to increase awareness of this condition by reviewing the embryology, anatomy and diagnosis of canal of Nuck disorders with imaging findings on US, CT and MRI using several cases from a single institution. (orig.)

  3. Canal of Nuck hernia: a multimodality imaging review

    International Nuclear Information System (INIS)

    Rees, Mitchell A.; Squires, James E.; Tadros, Sameh; Squires, Judy H.

    2017-01-01

    Canal of Nuck abnormalities are a rare but important cause of morbidity in girls, most often those younger than 5 years of age. The canal of Nuck, which is the female equivalent of the male processus vaginalis, is a protrusion of parietal peritoneum that extends through the inguinal canal and terminates in the labia majora. The canal typically obliterates early in life, but in some cases the canal can partially or completely fail to close, potentially resulting in a hydrocele or hernia of pelvic contents. Recognition of this entity is especially important in cases of ovarian hernia due to the risk of incarceration and torsion. We aim to increase awareness of this condition by reviewing the embryology, anatomy and diagnosis of canal of Nuck disorders with imaging findings on US, CT and MRI using several cases from a single institution. (orig.)

  4. Streptococcus pneumoniae bacteraemia due to parotitis in a patient with systemic sclerosis and secondary Sjögren's syndrome.

    Science.gov (United States)

    Yii, Irene Yuen Lin; Tan, Jamie Bee Xian; Fong, Warren Weng Seng

    2016-10-01

    Invasive pneumococcal disease is an uncommon and notifiable disease in Singapore. It is often associated with significant morbidity and mortality. We report a rare case of invasive pneumococcal bacteraemia due to parotitis in a patient with systemic sclerosis and secondary Sjögren's syndrome. We also present a retrospective review of Streptococcus pneumoniae bacteraemia cases in Singapore General Hospital from January 2011 to April 2016. A 59-year-old Malay lady with a history of systemic sclerosis with secondary Sjögren's syndrome presented with fever and left parotid gland swelling. Clinical examination revealed poor salivary pooling and left parotid swelling without fluctuance. Ultrasound of the left parotid gland confirmed acute parotitis without evidence of abscess or sialolithiasis. Blood cultures were positive for S. pneumoniae . She was diagnosed to have invasive pneumococcal bacteraemia secondary to acute parotitis, and treated with intravenous benzylpenicillin with clearance of bacteraemia after 3 days. Upon discharge, her antibiotics were changed to intravenous ceftriaxone to facilitate outpatient parenteral antibiotic therapy for another 2 weeks. She responded favourably to antibiotics at follow-up, with no complications from the bacteraemia. A review of the microbiological records of the Singapore General Hospital revealed 116 cases of pneumococcal bacteraemia, most (80.3 %) of which were due to pneumonia. None were due to parotitis. S. pneumoniae parotitis and subsequent bacteraemia is rare. Prompt recognition of the disease and appropriate use of antibiotics are important. This case highlights that close communication between healthcare workers (microbiologist, rheumatologist and infectious disease specialist) is essential in ensuring good clinical outcomes in patients with a potentially fatal disease.

  5. Conus medullaris syndrome due to an intradural disc herniation: A case report

    Directory of Open Access Journals (Sweden)

    Chaudhary Kshitij

    2008-01-01

    Full Text Available A 70-year-old male patient developed acute paraplegia due to conus medullaris compression secondary to extrusion of D12-L1 disc. After negative epidural examination intraoperatively, a durotomy was performed and an intradural disc fragment was excised. Patient did not regain ambulatory status at two-year follow-up. Intraoperative finding of negative extradural compression, tense swollen dura and CSF leak from ventral dura should alert the surgeon for the possibility of intradural disc herniation. A routine preoperative MRI is misleading and a high index of suspicion helps to avoid a missed diagnosis.

  6. Mortality and morbidity due to gastric dilatation-volvulus syndrome in pedigree dogs in the UK.

    Science.gov (United States)

    Evans, Katy M; Adams, Vicki J

    2010-07-01

    To estimate breed-specific risk of death due to, and prevalence of, gastric dilatation-volvulus (GDV) in UK pedigree dogs. Data were available on the reported cause of and age at death and occurrence of and age at diagnosis of disease from the 2004 purebred dog health survey. A total of 15,881 dogs of 165 breeds had died in the previous 10 years; GDV was the cause of death in 65 breeds. There were 36,006 live dogs of 169 breeds of which 48 breeds had experienced > or =1 episodes of GDV. Prevalence ratios were used to estimate breed-specific GDV mortality and morbidity risks. Gastric dilatation-volvulus was the cause of death for 389 dogs, representing 2.5% (95% CI: 2.2-2.7) of all deaths reported and the median age at death was 7.92 years. There were 253 episodes in 238 live dogs. The median age at first diagnosis was five years. Breeds at greatest risk of GDV mortality were the bloodhound, Grand Bleu de Gascogne, German longhaired pointer and Neapolitan mastiff. Breeds at greatest risk of GDV morbidity were the Grand Bleu de Gascogne, bloodhound, otterhound, Irish setter and Weimaraner. These results suggest that 16 breeds, mainly large/giant, are at increased risk of morbidity/mortality due to GDV.

  7. Bilateral symmetrical adrenal hypermetabolism on FDG PET/CT due to Cushing syndrome in well differentiated neuroendocrine carcinoma.

    Science.gov (United States)

    Aktas, G E; Soyluoglu Demir, S; Sarikaya, A

    2016-01-01

    The (18)F-FDG PET/CT scan has been suggested for whole-body imaging to identify ectopic adrenocorticotrophic hormone secreting tumours, but there are some challenges involved. The case of a patient is presented, who was admitted with the pre-diagnosis of ectopic ACTH syndrome. On the CT, a nodular lesion was detected in the medial segment of the right lung. The FDG uptake of the lesion seemed to be increased visually, but was not pathological quantitatively (SUVmax: 1.8) on the PET/CT. There was also diffuse increased uptake (SUVmax: 14.2) in the enlarged adrenal glands. The lesion was reported as a possible malignant lesion with low FDG affinity, such as a low grade neuroendocrine tumour, while the diffuse enlarged adrenal glands with high uptake were interpreted as diffusely hyperplasic, due to Cushing's syndrome. The patient was treated with a surgical wedge resection. The histopathological diagnosis confirmed that the tumour was a grade 1 well-differentiated neuroendocrine carcinoma. Copyright © 2015 Elsevier España, S.L.U. and SEMNIM. All rights reserved.

  8. Acute renal failure due to mesangial proliferative glomerulonephritis in a pregnant woman with primary Sjögren's syndrome.

    Science.gov (United States)

    Adam, Fatma Ulku; Torun, Dilek; Bolat, Filiz; Zumrutdal, Aysegul; Sezer, Siren; Ozdemir, Fatma Nurhan

    2006-02-01

    The most common form of renal involvement in Sjögren's syndrome (SS) is tubulointerstitial nephritis. Renal dysfunction is usually mild and subclinical. Glomerulonephritis (GMN) is rare in patients with SS. We report a 28-year-old multigravida patient with primary Sjögren's syndrome (pSS) and associated manifestations, who presented with acute renal failure in the 20th week of her fifth pregnancy. The complaints and clinical findings, positive Schirmer's test, findings of dry eye on ophthalmologic examination, and the salivary gland biopsy were compatible with SS. The patient exhibited no other clinical or laboratory findings indicative of other collagenous disease and/or rheumatoid arthritis. She refused renal biopsy, hesitating for fear of fetal loss; thus, based on the clinical and laboratory findings indicating rapidly progressive GMN and vasculitis, prednisolone, plasmapheresis, and one dose of cyclophosphamide were administered during the pregnancy. Hemodialysis five times weekly was performed. At the 28th week of gestation, she underwent a cesarean section due to early rupture of membranes and fetal distress. A healthy male boy was delivered. The renal biopsy performed 2 weeks after labor revealed mesangial proliferative glomerulonephritis. After the fourth cyclophosphamide treatment, her urinary output increased and she was discharged from the hemodialysis program. She remains in follow-up at our outpatient clinic free of hemodialysis for 4 months. This is the first report of mesangial proliferative GMN requiring dialysis in a pregnant pSS patient that has featured good maternal and fetal outcomes.

  9. Medical image of the week: abdominal compartment syndrome due to massive upper gastrointestinal hemorrhage

    Directory of Open Access Journals (Sweden)

    Truong VN

    2014-11-01

    Full Text Available No abstract available. Article truncated after 150 words. A 29 year old woman with history of a Whipple procedure for pancreatic cancer and nonalcoholic steatohepatitis cirrhosis presented with a massive upper gastrointestinal bleeding (UGIB likely from esophageal varices and developed hemorrhagic shock. Emergent upper endoscopy could not be performed due to hemodynamic instability. Therefore, a Minnesota Tube was placed emergently for balloon tamponade of the bleeding. A transjugular intrahepatic portosystemic shunt was also placed emergently to decrease bleeding by reducing portal pressure. By this time, the patient had received 4 liters of normal saline, 14 units of packed red blood cells, 6 units of platelets, and 4 units of fresh frozen plasma. The Minnesota tube did control the bleeding somewhat, however, there was continued bloody drainage from the stomach port of the Minnesota tube. The patient’s abdomen became remarkably distended and was dull to percussion throughout. A CT scan of the abdomen and pelvis revealed severe dilatation of ...

  10. A case report of secondary Budd-Chiari syndrome due to chronic empyema diagnosed by NMR-CT

    International Nuclear Information System (INIS)

    Takagi, Sayumi; Hattori, Akira; Yamauchi, Masayosi; Kimura, Kazuo; Suzino, Hajime; Sibata, Koji; Watanabe, Reijiro; Kameda, Haruo

    1985-01-01

    A 34-year-old male patient complained of general fatigue, ascites, and edema of the lower extremities. A chest x-ray film showed atelectasis of the right lung and pleural effusion of the right side. Liver ultrasonography revealed stenosis of the middle and right hepatic veins. Venacavography revealed stenosis of the inferior vena cava and collateral circulation. Finally, abdominal NMR-CT clearly visualized lunate stenosis and antero-lateral deviation of the inferior vena cava. He was diagnosed as having secondary Budd-Chiari syndrome resulting from the deviation and stenosis of the inferior vena cava due to distortion of the surrounding tissues by the thickened pleura which was caused by chronic empyema. (Namekawa, K.)

  11. Mandibular Osteonecrosis due to the Pulpal-Periodontal Syndrome: a Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Sven Seiwerth

    2017-01-01

    Full Text Available Objective: Ishemic bone disease has multifactorial etiologies. Cronic dental infections should be eliminated to prevent osteonecrosis of the jaw. Case report: We report an unusual case of osteonecrosis due to the pulpal-peridontal syndrome and subsequent pulp necrosis. A case of 38 year old woman who presented with exposed bone, 8 mm in diameter, in the lingual area of the right lower third molar. The patient was otherwise healthy and was not taking any medications. A detailed medical history showed no previous diseases. Patient denied any type of local trauma. A complete blood count showed no abnormalities. The panoramic radiograph revealed a deep periodontal pocket between teeth 47 and 48. The CBCT revealed a deep periodontal pocket between molars and bone sequestrum of the lingual plate. Topical treatment consisted of adhesive periodontal dressing based on the cellulose and betamethasone oitnment together with orabase, without improvement. Therefore, peroral amoxycillin was prescribed for a week. Since there was no improvement, the third molar was removed as well as necrotic bone; the alveolar bone was remodelled and utures were placed. After suturing, the whole area was covered using intraoral resorbable bandage. Microbial swab of the wound aspirate did not reveal polymorphonuclears or the presence of icroorganisms. Microbial swab of the biopsy specimen of the necrotic bone particle and sequestrum showed a large amount of gram-positive coccae, however, polymorphonuclears were not found. Histopathological analysis revealed acute chronic inflammation. One week after the surgery, the area healed completely. Conclusion: This case highlights the fact that in some patients bone exposure might develop due to the pulpal-peridontal syndrome i.e. pulp necrosis.

  12. Toxic shock syndrome due to community-acquired methicillin-resistant Staphylococcus aureus infection: Two case reports and a literature review in Japan

    OpenAIRE

    Sada, Ryuichi; Fukuda, Saori; Ishimaru, Hiroyasu

    2017-01-01

    Community-acquired methicillin-resistant Staphylococcus aureus has been spreading worldwide, including in Japan. However, few cases of toxic shock syndrome caused by Community-acquired methicillin-resistant Staphylococcus aureus have been reported in Japan. We report 2 cases, in middle-aged women, of toxic shock syndrome due to Community-acquired methicillin-resistant Staphylococcus aureus via a vaginal portal of entry. The first patient had used a tampon and the second patient had vaginitis ...

  13. Endodontic Treatment of a Mandibular Second Premolar with Three Roots and Three Canals

    Directory of Open Access Journals (Sweden)

    Bonny Paul

    2014-01-01

    Full Text Available Complex root canal system with atypical variations is a common finding among mandibular premolars. Endodontic treatment in these teeth may not be successful due to the failure to recognise and treat multiple canals. This paper presents endodontic treatment of a mandibular second premolar with three roots and three canals.

  14. Fanconi syndrome

    Science.gov (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 ...

  15. Budd-Chiari syndrome due to prothrombotic disorder: mid-term patency and efficacy of endovascular stents

    Energy Technology Data Exchange (ETDEWEB)

    Pelage, Jean-Pierre; Denys, Alban; Sibert, Annie; Menu, Yves [Department of Radiology, Hopital Beaujon, AP-HP, 100 Boulevard du General Leclerc, 92110 Clichy (France); Valla, Dominique [Department of Hepatology, Hopital Beaujon, AP-HP, 100 Boulevard du General Leclerc, 92110 Clichy (France); Sauvanet, Alain; Belghiti, Jacques [Department of Surgery, Hopital Beaujon, AP-HP, 100 Boulevard du General Leclerc, 92110 Clichy (France)

    2003-02-01

    Our objective was to evaluate efficacy and patency of metallic stent placement for symptomatic Budd-Chiari syndrome (BCS) due to prothrombotic disorders. Eleven patients with proved BCS due to prothrombotic disorders were referred for endovascular treatment because of refractory ascites (n=9), abdominal pain (n=8), jaundice (n=6), and/or gastrointestinal bleeding (n=4). Stents were inserted for stenosed hepatic vein (n=7), inferior vena cava (n=2), or mesenterico-caval shunt (n=2). Clinical efficacy and stent patency was evaluated by clinical and Doppler follow-up. After a mean follow-up of 21 months, 6 patients had fully patent stents without reintervention (primary stent patency: 55%). Two patients with hepatic vein stenosis had stent thrombosis and died 4 months after procedure. Restenosis occurred in 3 cases (2 hepatic vein and 1 mesenterico-caval shunt stenosis) and were successfully treated by balloon angioplasty (n=2) and addition of new stents (n=1) leading to a 82% secondary stent patency. Of 9 patients with patent stent, 7 were asymptomatic (77%) at the end of the study. Stent placement is a safe and effective procedure to control of symptomatic BCS. Prothrombotic disorder does not seem to jeopardize patency in anticoagulated patients. (orig.)

  16. Severe Cushing’s syndrome due to small cell prostate carcinoma: a case and review of literature

    Directory of Open Access Journals (Sweden)

    M S Elston

    2017-07-01

    Full Text Available Cushing’s syndrome (CS due to ectopic adrenocorticotrophic hormone (ACTH is associated with a variety of tumours most of which arise in the thorax or abdomen. Prostate carcinoma is a rare but important cause of rapidly progressive CS. To report a case of severe CS due to ACTH production from prostate neuroendocrine carcinoma and summarise previous published cases. A 71-year-old male presented with profound hypokalaemia, oedema and new onset hypertension. The patient reported two weeks of weight gain, muscle weakness, labile mood and insomnia. CS due to ectopic ACTH production was confirmed with failure to suppress cortisol levels following low- and high-dose dexamethasone suppression tests in the presence of a markedly elevated ACTH and a normal pituitary MRI. Computed tomography demonstrated an enlarged prostate with features of malignancy, confirmed by MRI. Subsequent prostatic biopsy confirmed neuroendocrine carcinoma of small cell type and conventional adenocarcinoma of the prostate. Adrenal steroidogenesis blockade was commenced using ketoconazole and metyrapone. Complete biochemical control of CS and evidence of disease regression on imaging occurred after four cycles of chemotherapy with carboplatin and etoposide. By the sixth cycle, the patient demonstrated radiological progression followed by recurrence of CS and died nine months after initial presentation. Prostate neuroendocrine carcinoma is a rare cause of CS that can be rapidly fatal, and early aggressive treatment of the CS is important. In CS where the cause of EAS is unable to be identified, a pelvic source should be considered and imaging of the pelvis carefully reviewed.

  17. Hyperthyroidism due to thyroid-stimulating hormone secretion after surgery for Cushing's syndrome: a novel cause of the syndrome of inappropriate secretion of thyroid-stimulating hormone.

    Science.gov (United States)

    Tamada, Daisuke; Onodera, Toshiharu; Kitamura, Tetsuhiro; Yamamoto, Yuichi; Hayashi, Yoshitaka; Murata, Yoshiharu; Otsuki, Michio; Shimomura, Iichiro

    2013-07-01

    Hyperthyroidism with the syndrome of inappropriate secretion of TSH (SITSH) occurred by a decrease in hydrocortisone dose after surgery for Cushing's syndrome. This is a novel cause of SITSH. The aim of this study was to describe and discuss 2 cases of SITSH patients that were found after surgery for Cushing's syndrome. We also checked whether SITSH occurred in 7 consecutive patients with Cushing's syndrome after surgery. A 45-year-old Japanese woman with ACTH-independent Cushing's syndrome and a 37-year-old Japanese man with ACTH-dependent Cushing's syndrome presented SITSH caused by insufficient replacement of hydrocortisone for postoperative adrenal insufficiency. When the dose of hydrocortisone was reduced to less than 20 mg/d within 18 days after surgery, SITSH occurred in both cases. We examined whether the change of the hydrocortisone dose induced the secretion of TSH. Free T₃ and TSH were normalized by the hydrocortisone dose increase of 30 mg/d, and these were elevated by the dose decrease of 10 mg/d. We also checked TSH and thyroid hormone levels of the 7 consecutive patients with Cushing's syndrome after surgery. Six (66.6 %) of 9 patients showed SITSH. This is the first report that insufficient replacement of hydrocortisone after surgery for Cushing's syndrome caused SITSH. Hyperthyroidism by SITSH as well as adrenal insufficiency can contribute to withdrawal symptoms of hydrocortisone replacement. We need to consider the possibility of SITSH for the pathological evaluation of withdrawal syndrome of hydrocortisone replacement.

  18. Continuous Adductor Canal Blocks

    DEFF Research Database (Denmark)

    Monahan, Amanda M; Sztain, Jacklynn F; Khatibi, Bahareh

    2016-01-01

    on cutaneous knee sensation in volunteers. METHODS: Bilateral adductor canal catheters were inserted in 24 volunteers followed by ropivacaine 0.2% administration for 8 hours. One limb of each subject was assigned randomly to a continuous infusion (8 mL/h) or automated hourly boluses (8 m...

  19. CANAL user's manual

    International Nuclear Information System (INIS)

    Faya, A.; Wolf, L.; Todreas, N.

    1979-11-01

    CANAL is a subchannel computer program for the steady-state and transient thermal hydraulic analysis of BWR fuel rod bundles. The purpose of this manual is to introduce the user into the mechanism of running the code by providing information about the input data and options

  20. Traumatic brain injury is unlikely precipitating Leigh syndrome due to the GJB2 mutation c.35delG

    Directory of Open Access Journals (Sweden)

    Josef Finsterer

    2017-06-01

    Full Text Available With interest we read the article by Ashrafi et al. about a 14-year-old female who is regarded to have developed Leigh syndrome (LS after traumatic brain injury (TBI. We have the following comments and concerns:We do not agree with the notion that traumatic brain injury was the precipitating factor for LS. The patient had a history of hypoacusis, which is a typical clinical manifestation of a mitochondrial disorder (MID. Hypoacusis obviously had developed long before the TBI. Additionally, the patient was diagnosed with neuropathy of the peripheral nerves two months after TBI. It is rather unlikely that neuropathy was triggered by TBI and more likely it was already present before the trauma. Thus, the initial manifestations of LS in the presented patient were most likely hypoacusis followed by neuropathy and TBI only might have triggered the seizure but not the MID. Why was the patient put on phenytoin, which is well-known to be mitochondrion-toxic? Phenytoin may worsen epilepsy and MID in general and it is conceivable that in fact phenytoin was responsible for worsening of the phenotype and not the TBI. In a 16-year-old female with MELAS syndrome due to the mutation m.3243A>G, phenytoin caused intestinal pseudo-obstruction one month after intravenous phenytoin for status epilepticus. In a patient with Kearns-Sayre syndrome phenytoin decreased cerebrospinal fluid (CSF folate levels. In rat hepatocytes, phenytoin increased reactive oxygen species (ROS formation, decreased intracellular reduced glutathione, increased intracellular oxidised glutathione, and enhanced lipid peroxidation and mitochondrial damage. In a hepatic microsomal system, phenytoin decreased state-3 respiration, ATP synthesis, and the mitochondrial membrane potential. In this model, phenytoin increased state-4 respiration, impaired Ca++-uptake and release, and inhibited Ca++-induced swelling. It would be interesting to know how the GJB2 mutation was detected. Was whole exome or

  1. A Gut Gone to Pot: A Case of Cannabinoid Hyperemesis Syndrome due to K2, a Synthetic Cannabinoid

    Directory of Open Access Journals (Sweden)

    Anene Ukaigwe

    2014-01-01

    Full Text Available Cannabinoid Hyperemesis Syndrome (CHS was first described in 2004. Due to its novelty, CHS is often unrecognized by clinicians leading to expensive workup of these patients with cyclical symptoms. It may take up to 9 years to diagnose CHS. CHS is characterized by cyclical nausea and vomiting, abdominal pain, and an unusual compulsion to take hot showers in the presence of chronic use of cannabinoids. Cannabicyclohexanol is a synthetic cannabinoid, popularly known as K2 spice. It is a popular marijuana alternative among teenagers and young adults since it is readily available as herbal incense. Unlike marijuana, many users know that K2 is not detected in conventional urine drug screens, allowing those users to conceal their intake from typical detection methods. Serum or urine gas chromatography mass spectrophotometry is diagnostic, though not widely available. Thus, it is imperative for clinicians to recognize CHS, even with negative UDS, to provide cost-effective care. We present a 38-year-old man with a 10-year history of cannabis, and 1-year history of K2 abuse admitted with 1-week history of episodes of nausea, vomiting of clear fluids, and epigastric discomfort. Symptoms are relieved only by hot showers. Extensive laboratory, radiologic, and endoscopic evaluation was unrevealing. CHS was diagnosed, based on proposed criteria by Simonetti et al.

  2. Evolution of Choroidal Neovascularization due to Presumed Ocular Histoplasmosis Syndrome on Multimodal Imaging including Optical Coherence Tomography Angiography

    Directory of Open Access Journals (Sweden)

    T. Y. Alvin Liu

    2018-01-01

    Full Text Available A 37-year-old Caucasian woman presented with acute decrease in central vision in her right eye and was found to have subfoveal choroidal neovascularization (CNV due to presumed ocular histoplasmosis syndrome (POHS. Her visual acuity improved from 20/70 to 20/20 at her 6-month follow-up, after 3 consecutive monthly intravitreal bevacizumab injections were initiated at her first visit. Although no CNV activity was seen on fluorescein angiography (FA or spectral-domain optical coherence tomography (SD-OCT at her 2-month, 4-month, and 6-month follow-up visits, persistent flow in the CNV lesion was detected on optical coherence tomography angiography (OCTA. OCTA shows persistent vascular flow as well as changes in vascular flow in CNV lesions associated with POHS, indicating the continued presence of patent vessels and changes in these CNV lesions, even when traditional imaging of the lesion with OCT and FA indicates stability of the lesion with no disease activity. Additional cases with longitudinal follow-up are needed to assess how OCTA should be incorporated into clinical practice.

  3. Curved canals: Ancestral files revisited

    Directory of Open Access Journals (Sweden)

    Jain Nidhi

    2008-01-01

    Full Text Available The aim of this article is to provide an insight into different techniques of cleaning and shaping of curved root canals with hand instruments. Although a plethora of root canal instruments like ProFile, ProTaper, LightSpeed ® etc dominate the current scenario, the inexpensive conventional root canal hand files such as K-files and flexible files can be used to get optimum results when handled meticulously. Special emphasis has been put on the modifications in biomechanical canal preparation in a variety of curved canal cases. This article compiles a series of clinical cases of root canals with curvatures in the middle and apical third and with S-shaped curvatures that were successfully completed by employing only conventional root canal hand instruments.

  4. MANAGEMENT OF LUMBAR SPINAL CANAL STENOSIS

    Directory of Open Access Journals (Sweden)

    Mukhergee G. S

    2016-06-01

    Full Text Available BACKGROUND Spinal stenosis is one of the most common conditions in the elderly. It is defined as a narrowing of the spinal canal. The term stenosis is derived from the Greek word for narrow, which is “Stenos”. The first description of this condition is attributed to Antoine portal in 1803. Verbiest is credited with coining the term spinal stenosis and the associated narrowing of the spinal canal as its potential cause. [1-10] Kirkaldy–Willis subsequently described the degenerative cascade in the lumbar spine as the cause for the altered anatomy and pathophysiology in spinal stenosis. [11-15] If compression does not occur, the canal should be described as narrow but not stenotic. Some studies defined lumbar spinal stenosis as a “narrowing of the osteoligamentous vertebral canal and/or the intervertebral foramina causing compression of the thecal sac and/or the caudal nerve roots; at a single vertebral level, narrowing may affect the whole canal or part of it” (Postacchini 1983. This definition distinguished between disc herniation and stenosis. [16] . The most common type of spinal stenosis is caused by degenerative arthritis of the spine. Hypertrophy and ossification of the posterior longitudinal ligament which usually are confined to the cervical spine, and diffuse idiopathic skeletal hyperostosis (DISH syndrome also may result in an acquired form of spinal stenosis. Congenital forms caused by disorders such as achondroplasia and dysplastic spondylolisthesis are much less common. Congenital spinal stenosis usually is central and is evident or imaging studies. Idiopathic congenital narrowing usually involves the anteroposterior dimension of the canal secondary to short pedicles; the patient otherwise is normal. In contrast, in achondroplasia, the canal is narrowed in the anteroposterior plane owing to shortened pedicles and in lateral dimension because of diminished interpedicular distance. Acquired forms of spinal stenosis usually are

  5. Thalidomide for treatment of gastrointestinal bleedings due to angiodysplasia : a case report in acquired von Willebrand syndrome and review of the literature

    NARCIS (Netherlands)

    Engelen, E T; van Galen, K P M; Schutgens, R E G

    INTRODUCTION: Acquired von Willebrand syndrome is a rare bleeding disorder and treatment of the associated gastrointestinal (GI) bleeding due to angiodysplasia is challenging. AIM: The aim of this study was to present a new case on the successful use of thalidomide in a patient with acquired von

  6. Mycoplasma pneumoniae preceding Lemierre's syndrome due to Fusobacterium nucleatum complicated by acute Epstein-Barr virus (EBV) infectious mononucleosis in an immunocompetent host.

    Science.gov (United States)

    Klein, Natalie C; Petelin, Andrew; Cunha, Burke A

    2013-01-01

    We report an unusual case of Lemierre's syndrome due to a rare species of Fusobacterium, that is, Fusobacterium nucleatum preceded by Mycoplasma pneumoniae pharyngitis and followed later by Epstein-Barr virus infectious mononucleosis. Copyright © 2013 Elsevier Inc. All rights reserved.

  7. Single-Session CT-Guided Percutaneous Microwave Ablation of Bilateral Adrenal Gland Hyperplasia Due to Ectopic ACTH Syndrome

    International Nuclear Information System (INIS)

    Sarma, Asha; Shyn, Paul B.; Vivian, Mark A.; Ng, Ju-Mei; Tuncali, Kemal; Lorch, Jorchen H.; Zaheer, Sarah N.; Gordon, Michael S.; Silverman, Stuart G.

    2015-01-01

    Bilateral adrenalectomy is currently the only available treatment for adrenocorticotropic hormone (ACTH)-dependent Cushing’s syndrome (ectopic ACTH syndrome) that is refractory to pharmacologic therapy. We describe two patients with refractory ectopic ACTH syndrome who were treated with CT-guided percutaneous microwave ablation of both hyperplastic adrenal glands in a single session: One was not a surgical candidate, and the other had undergone unsuccessful surgery. Following the procedure, both patients achieved substantial decreases in serum cortisol, symptomatic improvement, and decreased anti-hypertensive medication requirements

  8. Single-Session CT-Guided Percutaneous Microwave Ablation of Bilateral Adrenal Gland Hyperplasia Due to Ectopic ACTH Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Sarma, Asha, E-mail: ashasarma@gmail.com; Shyn, Paul B., E-mail: pshyn@partners.org [Brigham and Women’s Hospital, Department of Radiology (United States); Vivian, Mark A. [University of Manitoba, Department of Radiology (Canada); Ng, Ju-Mei [Brigham and Women’s Hospital, Department of Anesthesiology (United States); Tuncali, Kemal [Brigham and Women’s Hospital, Department of Radiology (United States); Lorch, Jorchen H. [Dana Farber Cancer Institute, Department of Medicine (United States); Zaheer, Sarah N.; Gordon, Michael S. [Brigham and Women’s Hospital, Department of Endocrinology (United States); Silverman, Stuart G. [Brigham and Women’s Hospital, Department of Radiology (United States)

    2015-10-15

    Bilateral adrenalectomy is currently the only available treatment for adrenocorticotropic hormone (ACTH)-dependent Cushing’s syndrome (ectopic ACTH syndrome) that is refractory to pharmacologic therapy. We describe two patients with refractory ectopic ACTH syndrome who were treated with CT-guided percutaneous microwave ablation of both hyperplastic adrenal glands in a single session: One was not a surgical candidate, and the other had undergone unsuccessful surgery. Following the procedure, both patients achieved substantial decreases in serum cortisol, symptomatic improvement, and decreased anti-hypertensive medication requirements.

  9. Goodpasture's Syndrome due to IgA in a patient with clinical diagnosis of Henoch Schonlein's purpura

    International Nuclear Information System (INIS)

    Restrepo Cesar A

    2005-01-01

    This is a case of a 23 year old woman with an initial clinical syndrome compatible with glomerulonephritis of uncertain origin, who later showed lesions of purpuric rash characteristics of Henoch- Schonlein Purpura and then complicated with a pulmonary hemorrhage and a rapidly progressive glomerulonephritis, with a mixed lung-kidney syndrome. The renal biopsy showed presence of linear deposits of immunoglobulin A and extra capillary proliferative changes. The case was concluded corresponding to Goodpasture's syndrome for antibodies antiglomerular basement membrane of the type of IgA in the context of a Henoch-Schonlein Purpura.

  10. Beneficial effect of pyruvate therapy on Leigh syndrome due to a novel mutation in PDH E1α gene.

    Science.gov (United States)

    Koga, Yasutoshi; Povalko, Nataliya; Katayama, Koujyu; Kakimoto, Noriko; Matsuishi, Toyojiro; Naito, Etsuo; Tanaka, Masashi

    2012-02-01

    Leigh syndrome (LS) is a progressive untreatable degenerating mitochondrial disorder caused by either mitochondrial or nuclear DNA mutations. A patient was a second child of unconsanguineous parents. On the third day of birth, he was transferred to neonatal intensive care units because of severe lactic acidosis. Since he was showing continuous lactic acidosis, the oral supplementation of dichloroacetate (DCA) was introduced on 31st day of birth at initial dose of 50 mg/kg, followed by maintenance dose of 25 mg/kg/every 12 h. The patient was diagnosed with LS due to a point mutation of an A-C at nucleotide 599 in exon 6 in the pyruvate dehydrogenase E1α gene, resulting in the substitution of aspartate for threonine at position 200 (N200T). Although the concentrations of lactate and pyruvate in blood were slightly decreased, his clinical conditions were deteriorating progressively. In order to overcome the mitochondrial or cytosolic energy crisis indicated by lactic acidosis as well as clinical symptoms, we terminated the DCA and administered 0.5 g/kg/day TID of sodium pyruvate orally. We analyzed the therapeutic effects of DCA or sodium pyruvate in the patient, and found that pyruvate therapy significantly decreased lactate, pyruvate and alanine levels, showed no adverse effects such as severe neuropathy seen in DCA, and had better clinical response on development and epilepsy. Though the efficacy of pyruvate on LS will be evaluated by randomized double-blind placebo-controlled study design in future, pyruvate therapy is a possible candidate for therapeutic choice for currently incurable mitochondrial disorders such as LS. Copyright © 2011 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  11. The failures of root canal preparation with hand ProTaper

    OpenAIRE

    Bătăiosu, Marilena; Diaconu, Oana; Moraru, Iren; Dăguci, C.; Ţuculină, Mihaela; Dăguci, Luminiţa; Gheorghiţă, Lelia

    2012-01-01

    The failures of root canal preparation are due to some anatomical deviation (canal in “C” or “S”) and some technique errors. The technique errors are usually present in canal root cleansing and shaping stage and are the result of endodontic treatment objectives deviation. Objectives: Our study was made on technique errors while preparing the canal roots with hand ProTaper. Methodology: Our study was made “in vitro” on 84 extracted teeth (molars, premolars, incisors and canines). The canal roo...

  12. β-cell dysfunction due to increased ER stress in a stem cell model of Wolfram syndrome.

    Science.gov (United States)

    Shang, Linshan; Hua, Haiqing; Foo, Kylie; Martinez, Hector; Watanabe, Kazuhisa; Zimmer, Matthew; Kahler, David J; Freeby, Matthew; Chung, Wendy; LeDuc, Charles; Goland, Robin; Leibel, Rudolph L; Egli, Dieter

    2014-03-01

    Wolfram syndrome is an autosomal recessive disorder caused by mutations in WFS1 and is characterized by insulin-dependent diabetes mellitus, optic atrophy, and deafness. To investigate the cause of β-cell failure, we used induced pluripotent stem cells to create insulin-producing cells from individuals with Wolfram syndrome. WFS1-deficient β-cells showed increased levels of endoplasmic reticulum (ER) stress molecules and decreased insulin content. Upon exposure to experimental ER stress, Wolfram β-cells showed impaired insulin processing and failed to increase insulin secretion in response to glucose and other secretagogues. Importantly, 4-phenyl butyric acid, a chemical protein folding and trafficking chaperone, restored normal insulin synthesis and the ability to upregulate insulin secretion. These studies show that ER stress plays a central role in β-cell failure in Wolfram syndrome and indicate that chemical chaperones might have therapeutic relevance under conditions of ER stress in Wolfram syndrome and other forms of diabetes.

  13. Aortic valve-sparing operation after correction of heart displacement due to pectus excavatum using Nuss procedure in a Marfan syndrome patient.

    Science.gov (United States)

    Fukunaga, Naoto; Yuzaki, Mitsuru; Hamakawa, Hiroshi; Nasu, Michihiro; Takahashi, Yutaka; Okada, Yukikatsu

    2012-01-01

    Cardiovascular surgery in the setting of chest wall deformities is a clinical challenge. Pectus excavatum, for example, can cause heart displacement to the left thoracic cavity, following the poor operative field. This report highlights a case in which a successful aortic valve-sparing operation via conventional median sternotomy after correction of the heart displacement due to pectus excavatum using Nuss procedure in Marfan syndrome. This technique can be one surgical option in Marfan syndrome patients with pectus excavatum and thoracic aortic aneurysm under close follow up.

  14. Hyponatremia in aneurysmal subarachnoid hemorrhage is due to the syndrome of inappropriate antidiuresis and acute glucocorticoid deficiency

    LENUS (Irish Health Repository)

    Hannon, M J

    2011-06-01

    Hyponatraemia is the most common electrolyte abnormality following subarachnoid haemorrhage (SAH) and contributes to increased morbidity and mortality. Retrospective data suggests that the syndrome of inappropriate diuresis (SIAD) is the most common cause of hyponatraemia in SAH, though cerebral salt wasting has been postulated by some workers to be the predominant abnormality. Data which has shown acute glucocorticoid deficiency following SAH has suggested that some cases of euvolaemic hyponatraemia may also be caused by this mechanism.We prospectively studied the hormonal and haemodynamic influences involved in the development of hyponatraemia in 100 patients (61% female, median age 53 (range 16-82)) with non-traumatic aneurysmal SAH. Each patient had plasma sodium (pNa), urea, osmolality, glucose and 0900h cortisol (PC), and urinary sodium and osmolality measured on days 1, 2, 3, 4, 6, 8, 10 and 12 following SAH. Fluid balance and haemodynamic parameters were recorded daily. Results were compared with 15 patients admitted to ITU following vascular surgery. A PC<300nmol\\/L in a patient in ITU was regarded clinically as inappropriately low.49% of patients developed hyponatraemia (pNa<135 mmol\\/L), including 14% who developed clinically significantly hyponatraemia (pNa<130 mmol\\/L). 36\\/49 (73.4%) developed hyponatraemia between days 1 and 3 post SAH. The median duration of hyponatraemia was 3 days (range 1–10 days).In 35\\/49 (71.4%), hyponatraemia was due to SIAD as defined by standard diagnostic criteria. 14% of SAH patients had at least one PC<300nmol\\/L; 5 of these (35.7%) developed hyponatraemia. In 4 patients hyponatraemia was preceded by acute cortisol deficiency and responded to hydrocortisone treatment. In contrast, all controls had PC>500 nmol\\/L on day 1, and >300 nmol on days 3–12. There were no cases of cerebral salt wasting. There was no relationship between the incidence of hyponatraemia and the defined anatomical territory or severity of

  15. Papular-purpuric "gloves and socks" syndrome due to parvovirus B19: report of a case with unusual features

    Directory of Open Access Journals (Sweden)

    PASSONI Luiz Fernando C.

    2001-01-01

    Full Text Available We present a case of papular-purpuric "gloves and socks" syndrome (PPGSS in an adult male with acute parvovirus B19 infection. The patient displayed the classical features of fever, oral lesions, and purpura on hands and feet, but the purpuric lesions on the feet evolved to superficial skin necrosis, a feature not previously described in this syndrome. We believe this is the first reported case of PPGSS occurring in Brazil.

  16. Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe).

    Science.gov (United States)

    Finsterer, Josef; Stöllberger, Claudia; Wollmann, Eva; Dertinger, Susanne; Laccone, Franco

    2016-09-01

    Carvajal syndrome is an autosomal dominant or autosomal recessive disorder, manifesting with dilated cardiomyopathy, woolly hair, and palmoplantar keratoma. Additional manifestations can be occasionally found. Carvajal syndrome may be due to mutations in the desmocollin-2, desmoplakin, or plakophilin-2 gene. We report a family with Carvajal syndrome which additionally presented with hypoacusis, noncompaction, recurrent pharyngeal infections, oligodontia, and recurrent diarrhoea. Father and brother were also affected and had died suddenly, the father despite implantation of a cardioverter defibrillator (ICD). Genetic studies revealed the novel pathogenic mutation c.1678A > T in the desmoplakin gene resulting in the amino acid change Ile to Phe at position 560 in the index case and her brother. The index case underwent ICD implantation recently. Phenotypic manifestations of Carvajal syndrome are even broader than so far anticipated, the number of mutations in the desmoplakin gene responsible for Carvajal syndrome is still increasing, and these patients require implantation of an ICD as soon as their diagnosis is established.

  17. Symptom Severity Following Rifaximin and the Probiotic VSL#3 in Patients with Chronic Pelvic Pain Syndrome (Due to Inflammatory Prostatitis) Plus Irritable Bowel Syndrome

    OpenAIRE

    Vicari, Enzo; Salemi, Michele; Sidoti, Giuseppe; Malaguarnera, Mariano; Castiglione, Roberto

    2017-01-01

    This study investigated the effects of long-term treatment with rifaximin and the probiotic VSL#3 on uro-genital and gastrointestinal symptoms in patients with chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS) plus diarrhoea-predominant irritable bowel syndrome (D-IBS) compared with patients with D-IBS alone. Eighty-five patients with CP/CPPS (45 with subtype IIIa and 40 with IIIb) plus D-IBS according to the Rome III criteria and an aged-matched control-group of patients with D-IBS ...

  18. Coexisting diseases modifying each other’s presentation - lack of growth failure in Turner syndrome due to the associated pituitary gigantism.

    Science.gov (United States)

    Dragović, Tamara; Đuran, Zorana; Jelić, Svetlana; Marinković, Dejan; Kiković, Saša; Kuzmić-Janković, Snežana; Hajduković, Zoran

    2016-10-01

    Turner syndrome presents with one of the most frequent chromosomal aberrations in female, typically presented with growth retardation, ovarian insufficiency, facial dysmorphism, and numerous other somatic stigmata. Gigantism is an extremely rare condition resulting from an excessive growth hormone (GH) secretion that occurs during childhood before the fusion of epiphyseal growth plates. The major clinical feature of gigantism is growth acceleration, although these patients also suffer from hypogonadism and soft tissue hypertrophy. We presented a girl with mosaic Turner syndrome, delayed puberty and normal linear growth for the sex and age, due to the simultaneous GH hypersecretion by pituitary tumor. In the presented case all the typical phenotypic stigmata related to Turner syndrome were missing. Due to excessive pituitary GH secretion during the period while the epiphyseal growth plates of the long bones are still open, characteristic stagnation in longitudinal growth has not been demonstrated. The patient presented with delayed puberty and primary amenorrhea along with a sudden appearance of clinical signs of hypersomatotropinism, which were the reasons for seeking medical help at the age of 16. Physical examination of children presenting with delayed puberty but without growth arrest must include an overall hormonal and genetic testing even in the cases when typical clinical presentations of genetic disorder are absent. To the best of our knowledge, this is the first reported case of simultaneous presence of Turner syndrome and gigantism in the literature.

  19. Coexisting diseases modifying each other’s presentation - lack of growth failure in Turner syndrome due to the associated pituitary gigantism

    Directory of Open Access Journals (Sweden)

    Dragović Tamara

    2016-01-01

    Full Text Available Introduction. Turner syndrome presents with one of the most frequent chromosomal aberrations in female, typically presented with growth retardation, ovarian insufficiency, facial dysmorphism, and numerous other somatic stigmata. Gigantism is an extremely rare condition resulting from an excessive growth hormone (GH secretion that occurs during childhood before the fusion of epiphyseal growth plates. The major clinical feature of gigantism is growth acceleration, although these patients also suffer from hypogonadism and soft tissue hypertrophy. Case report. We presented a girl with mosaic Turner syndrome, delayed puberty and normal linear growth for the sex and age, due to the simultaneous GH hypersecretion by pituitary tumor. In the presented case all the typical phenotypic stigmata related to Turner syndrome were missing. Due to excessive pituitary GH secretion during the period while the epiphyseal growth plates of the long bones are still open, characteristic stagnation in longitudinal growth has not been demonstrated. The patient presented with delayed puberty and primary amenorrhea along with a sudden appearance of clinical signs of hypersomatotropinism, which were the reasons for seeking medical help at the age of 16. Conclusion. Physical examination of children presenting with delayed puberty but without growth arrest must include an overall hormonal and genetic testing even in the cases when typical clinical presentations of genetic disorder are absent. To the best of our knowledge, this is the first reported case of simultaneous presence of Turner syndrome and gigantism in the literature.

  20. A case of osteomalacia due to deranged mineral balance caused by saccharated ferric oxide and short-bowel syndrome: A case report.

    Science.gov (United States)

    Nomoto, Hiroshi; Miyoshi, Hideaki; Nakamura, Akinobu; Nagai, So; Kitao, Naoyuki; Shimizu, Chikara; Atsumi, Tatsuya

    2017-09-01

    Saccharated ferric oxide has been shown to lead to elevation of fibroblast growth factor 23, hypophosphatemia, and, consequently, osteomalacia. Moreover, mineral imbalance is often observed in patients with short-bowel syndrome to some degree. A 62-year-old woman with short-bowel syndrome related with multiple resections of small intestines due to Crohn disease received regular intravenous administration of saccharated ferric oxide. Over the course of treatment, she was diagnosed with tetany, which was attributed to hypocalcemia. Additional assessments of the patient revealed not only hypocalcemia, but also hypophosphatemia, hypomagnesemia, osteomalacia, and a high concentration of fibroblast growth factor 23 (314 pg/mL). We diagnosed her with mineral imbalance-induced osteomalacia due to saccharated ferric oxide and short-bowel syndrome. Magnesium replacement therapy and discontinuation of saccharated ferric oxide alone. These treatments were able to normalize her serum mineral levels and increase her bone mineral density. This case suggests that adequate evaluation of serum minerals, including phosphate and magnesium, during saccharated ferric oxide administration may be necessary, especially in patients with short-bowel syndrome.

  1. Endodontic management of radix paramolaris with six canals: a clinical case report.

    Science.gov (United States)

    Acharya, N; Singh, A; Samant, P S; Gautam, V

    2013-01-01

    Endodontic therapy of mandibular molars is a challenging task due to its varied root canal morphology. A mandibular first molar with additional buccal root (Radix paramolaris) and additional distolingual root (Radix Entomolaris) is an example of its varied anatomy. A successful management of atypical root canal configurations is an important aspect in determining the success rate of root canal therapy. The detail knowledge of the root morphology and canal anatomy allows the clinician for accurate location of the extra roots and canals and accordingly the refinement of the access cavity for the stress free entry of complex anatomy. Hence, for a successful root canal therapy, clinician must be aware of the external and internal anatomic variations .The aim of this clinical case report is to present and describe the unusual presence of two separate mesial roots and six root canals in mandibular first molar, detected during routine endodontic therapy.

  2. Atypical Wernicke′s syndrome sans encephalopathy with acute bilateral vision loss due to post-chiasmatic optic tract edema

    Directory of Open Access Journals (Sweden)

    Soaham Dilip Desai

    2014-01-01

    Full Text Available A middle aged male presented with acute bilateral vision loss, 4 weeks after undergoing gastric bypass surgery for gastric carcinoma. He had normal sensorium, fundoscopy, normal pupillary reaction to light, but had mild opthalmoparesis and nystagmus with ataxia. Magnetic resonance imaging of the brain revealed post-chiasmatic optic tract edema along with other classical features of Wernicke′s syndrome. Thiamine supplementation leads to complete resolution of clinical as well as imaging findings. In appropriate clinical settings, a high index of suspicion and early treatment are essential for managing Wernicke′s syndrome even in patients with atypical clinical and imaging presentation.

  3. [Congenital ectropion of the upper eyelids due to an anomaly of the eyelids in down's syndrome (author's transl)].

    Science.gov (United States)

    Hennighausen, U; Schmidt-Martens, F W; Reim, M

    1978-05-01

    A 5-months-old female baby with Down's Syndrome developed an intermittent spastic ectropion of the upper eyelids. The reasons for this are thought to be the flaccidity of the connective tissue, which is typical in Down's Syndrome, and a little anomaly of the eyelids, the tarsus was too short horizontally and very weak and the upper eyelids were somewhat larger than normal and elongated. Suturing Bangerter's lid-sheets on the upper eyelids for 15 days resulted in a scarring of the tarsus with the lax connective tissue of the upper eyelids. The ectropion disappeared and did not recur.

  4. Osmolarity and root canal antiseptics.

    Science.gov (United States)

    Rossi-Fedele, G; Guastalli, A R

    2014-04-01

    Antiseptics used in endodontics for disinfection purposes include root canal dressings and irrigants. Osmotic shock is known to cause the alteration of microbial cell viability and might have a role in the mechanism of action of root canal antiseptics. The aim of this review was to determine the role of osmolarity on the performance of antiseptics in root canal treatment. A literature search using the Medline electronic database was conducted up to 30 May 2013 using the following search terms and combinations: 'osmolarity AND root canal or endodontic or antiseptic or irrigation or irrigant or medication or dressing or biofilm; osmolality AND root canal or endodontic or antiseptic or irrigation or irrigant or medication or dressing or biofilm; osmotic AND root canal or endodontic or antiseptic or irrigation or irrigant or medication or dressing or biofilm; osmosis AND root canal or endodontic or antiseptic or irrigation or irrigant or medication or dressing or biofilm; sodium chloride AND root canal or endodontic or antiseptic or irrigation or irrigant or medication or dressing or biofilm'. Publications were included if the effects of osmolarity on the clinical performance of antiseptics in root canal treatment were stated, if preparations with different osmolarities values were compared and if they were published in English. A hand search of articles published online, 'in press' and 'early view', and in the reference list of the included papers was carried out following the same criteria. A total of 3274 publications were identified using the database, and three were included in the review. The evidence available in endodontics suggests a possible role for hyperosmotic root canal medicaments as disinfectants, and that there is no influence of osmolarity on the tissue dissolution capacity of sodium hypochlorite. There are insufficient data to obtain a sound conclusion regarding the role of hypo-osmosis in root canal disinfection, or osmosis in any further desirable

  5. Hypotension due to Chemotherapy in a Patient with Small Cell Lung Cancer and Lambert-Eaton Myasthenic Syndrome Undergoing Hemodialysis: A First Case Report

    Directory of Open Access Journals (Sweden)

    Taiji Kuwata

    2012-01-01

    Full Text Available We present the first case of small cell lung cancer with Lambert-Eaton myasthenic syndrome during hemodialysis (HD. A 72-year-old male patient receiving HD experienced progressive muscle weakness. He was diagnosed with small cell lung cancer with Lambert-Eaton myasthenic syndrome due to an increased serum level of anti-voltage-gated calcium channel antibody and aspiration cytology on endobronchial ultrasonography for the swelling of a subcarinal lymph node. He received chemotherapy consisting of carboplatin (300 mg/m2 and etoposide (50 mg/m2, to which he had a partial response. However, the second therapy course could not be administered because of the unexpected development of severe hematological adverse events, which also prevented him from undergoing further HD. This case indicates that caution should be taken when using chemotherapy for such patients because of hypotension due to chemotherapy, with which it is impossible to undergo HD.

  6. Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome

    DEFF Research Database (Denmark)

    Ostergaard, Elsebet; Rodenburg, Richard J; van den Brand, Mariël

    2011-01-01

    This study investigated a girl with Leigh syndrome born to first-cousin parents of Pakistani descent with an isolated respiratory chain complex I deficiency in muscle and fibroblasts. Her early development was delayed, and from age 2 years she started losing motor abilities. Cerebral MRI showed...

  7. First case of anti-ganglioside GM1-positive Guillain-Barré syndrome due to hepatitis E virus infection

    NARCIS (Netherlands)

    Maurissen, I.; Jeurissen, A.; Strauven, T.; Sprengers, D.; de Schepper, B.

    2012-01-01

    A 51-year-old previously healthy woman presented with Guillain-Barré syndrome (GBS) and elevated liver enzymes. Further diagnostic investigations showed the presence of an acute hepatitis E infection associated with anti-ganglioside GM1 antibodies. After treatment with intravenous immunoglobulins,

  8. ACTH overexpressing pituitary hyperplasia in a patient with ectopic ACTH-syndrome due to carcinoid of the lung

    Directory of Open Access Journals (Sweden)

    Larisa Konstantinovna Dzeranova

    2015-01-01

    Full Text Available Ectopic ACTH-syndrome is the most diagnostically challenging  variant of endogenous hypercortisolism. Particularly difficult differential diagnosis of this syndrome is from Cushing's disease (CD, as currently there is no single test sufficiently accurate to differentiate accurately ectopic ACTH production from the pituitary. The main functional tests are based on the fact that the vast majority of ectopic ACTH production is autonomous and suppresses one from pituitary. But in some cases this is not observed, and then the data obtained all necessary laboratory and instrumental research evidence in favor of central genesis of CD in a patient with ACTH ectopic secretion, which can lead to inappropriate treatment. If you confirm the ectopic ACTH-syndrome, it may take quite a long time of searching for the pathological focus, as there is no sufficiently precise imaging and diagnostic method for determining the localization of ectopic source of ACTH production. Thus, the differential diagnosis of ACTH-dependent hypercortisolism and localization of the ectopic tumor is the cornerstone of early and radical treatment of patients. We present a difficult clinical case of a patient having a pituitary hyperplasia with excessive ACTH expression with primary ectopic ACTH syndrome caused by lung carcinoid.

  9. Respiratory Failure due to Severe Obesity and Kyphoscoliosis in a 24-Year-Old Male with Molecularly Confirmed Prader-Willi Syndrome in Tertiary Hospital in Northern Tanzania

    Directory of Open Access Journals (Sweden)

    Elichilia R. Shao

    2017-01-01

    Full Text Available Obesity, mild intellectual disability, hypotonia, poor sucking, cryptorchidism in males, hypogonadism, and kyphoscoliosis are common features of Prader-Willi syndrome (PWS. We report a case who had severe respiratory complications due to extreme obesity and kyphoscoliosis, which are important causes of morbidity and mortality, and discuss management. Furthermore, this is the first molecularly confirmed PWS case in Sub-Saharan Africa outside South Africa.

  10. Spinal canal stenosis; Spinalkanalstenose

    Energy Technology Data Exchange (ETDEWEB)

    Papanagiotou, P.; Boutchakova, M. [Klinikum Bremen-Mitte/Bremen-Ost, Klinik fuer Diagnostische und Interventionelle Neuroradiologie, Bremen (Germany)

    2014-11-15

    Spinal stenosis is a narrowing of the spinal canal by a combination of bone and soft tissues, which can lead to mechanical compression of spinal nerve roots or the dural sac. The lumbal spinal compression of these nerve roots can be symptomatic, resulting in weakness, reflex alterations, gait disturbances, bowel or bladder dysfunction, motor and sensory changes, radicular pain or atypical leg pain and neurogenic claudication. The anatomical presence of spinal canal stenosis is confirmed radiologically with computerized tomography, myelography or magnetic resonance imaging and play a decisive role in optimal patient-oriented therapy decision-making. (orig.) [German] Die Spinalkanalstenose ist eine umschriebene, knoechern-ligamentaer bedingte Einengung des Spinalkanals, die zur Kompression der Nervenwurzeln oder des Duralsacks fuehren kann. Die lumbale Spinalkanalstenose manifestiert sich klinisch als Komplex aus Rueckenschmerzen sowie sensiblen und motorischen neurologischen Ausfaellen, die in der Regel belastungsabhaengig sind (Claudicatio spinalis). Die bildgebende Diagnostik mittels Magnetresonanztomographie, Computertomographie und Myelographie spielt eine entscheidende Rolle bei der optimalen patientenbezogenen Therapieentscheidung. (orig.)

  11. Ocular vestibular evoked myogenic potentials to vertex low frequency vibration as a diagnostic test for superior canal dehiscence.

    Science.gov (United States)

    Verrecchia, Luca; Westin, Magnus; Duan, Maoli; Brantberg, Krister

    2016-04-01

    To explore ocular vestibular evoked myogenic potentials (oVEMP) to low-frequency vertex vibration (125 Hz) as a diagnostic test for superior canal dehiscence (SCD) syndrome. The oVEMP using 125 Hz single cycle bone-conducted vertex vibration were tested in 15 patients with unilateral superior canal dehiscence (SCD) syndrome, 15 healthy controls and in 20 patients with unilateral vestibular loss due to vestibular neuritis. Amplitude, amplitude asymmetry ratio, latency and interaural latency difference were parameters of interest. The oVEMP amplitude was significantly larger in SCD patients when affected sides (53 μVolts) were compared to non-affected (17.2 μVolts) or compared to healthy controls (13.6 μVolts). Amplitude larger than 33.8 μVolts separates effectively the SCD ears from the healthy ones with sensitivity of 87% and specificity of 93%. The other three parameters showed an overlap between affected SCD ears and non-affected as well as between SCD ears and those in the two control groups. oVEMP amplitude distinguishes SCD ears from healthy ones using low-frequency vibration stimuli at vertex. Amplitude analysis of oVEMP evoked by low-frequency vertex bone vibration stimulation is an additional indicator of SCD syndrome and might serve for diagnosing SCD patients with coexistent conductive middle ear problems. Copyright © 2016 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.

  12. Parent and Patient Perceptions of Functional Impairment Due to Tourette Syndrome: Development of a Shortened Version of the Child Tourette Syndrome Impairment Scale.

    Science.gov (United States)

    Barfell, Kara S Francis; Snyder, Ryan R; Isaacs-Cloes, Kelly M; Garris, Jordan F; Roeckner, Alyssa R; Horn, Paul S; Guthrie, Michael D; Wu, Steve W; Gilbert, Donald L

    2017-07-01

    The Child Tourette Syndrome Impairment Scale (CTIM) rates 37 problems in school, social, and home domains separately for tics and for comorbid diagnoses. However, a shorter version would be easier to implement in busy clinics. Using published data from 85 children with Tourette syndrome, 92 controls, and parents, factor analysis was used to generate a "mini-CTIM" composed of 12 items applied to tic and comorbid diagnoses. Child- and parent-rated mini-CTIM scores were compared and correlated across raters and accounting for clinician-rated tic severity and presence of attention-deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD). The mini-CTIM achieved domain Cronbach alphas ranging from 0.71 to 0.94 and intra-item correlation coefficients ranging from 0.84 to 0.96. The resulting scale correlated with clinician-rated tic severity and reflected the presence of ADHD and OCD. The mini-CTIM appears promising as a practical assessment tool for tic- and non-tic-related impairment in children with Tourette syndrome.

  13. A novel fibrillin-1 mutation in an egyptian marfan family: A proband showing nephrotic syndrome due to focal segmental glomerulosclerosis

    Directory of Open Access Journals (Sweden)

    Mohammad Al-Haggar

    2017-01-01

    Full Text Available Marfan syndrome (MFS, the founding member of connective tissue disorder, is an autosomal dominant disease; it is caused by a deficiency of the microfibrillar protein fibrillin-1 (FBN1 and characterized by involvement of three main systems; skeletal, ocular, and cardiovascular. More than one thousand mutations in FBN1 gene on chromosome 15 were found to cause MFS. Nephrotic syndrome (NS had been described in very few patients with MFS being attributed to membranoproliferative glomerulonephritis secondary to infective endocarditis. Focal segmental glomerulosclerosis (FSGS had been reported in NS in conjunction with MFS without confirming the diagnosis by mutational analysis of FBN1. We hereby present an Egyptian family with MFS documented at the molecular level; it showed a male proband with NS secondary to FSGS, unfortunately, we failed to make any causal link between FBN dysfunction and FSGS. In this context, we review the spectrum of renal involvements occurring in MFS patients.

  14. Mortality Due to Porcine Reproductive and Respiratory Syndrome Virus in Immunocompromised G?ttingen Minipigs (Sus scrofa domestica)

    OpenAIRE

    Pils, Marina C; Dreckmann, Karla; Jansson, Katharina; Glage, Silke; Held, Nadine; Sommer, Wiebke; L?nger, Florian; Avsar, Murat; Warnecke, Gregor; Bleich, Andr?

    2016-01-01

    Porcine reproductive and respiratory syndrome virus (PRRSV) infection was diagnosed in 6 G?ttingen minipigs (Sus scrofa domestica) with severe interstitial pneumonia. The virus was defined as a North American (NA) subtype virus, which is common in the commercial pig population and might be derived from a widely used attenuated live-virus vaccine in Europe. The ORF5 sequence of the isolated PRRSV was 98% identical to the vaccine virus. The affected pigs were part of a lung transplantation mode...

  15. Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1.

    Science.gov (United States)

    Kim, Ahlee; Fujimoto, Masanobu; Hwa, Vivian; Backeljauw, Philippe; Dauber, Andrew

    2018-01-01

    Cholesterol side-chain cleavage enzyme (P450scc) deficiency is a rare genetic disorder causing primary adrenal insufficiency with or without a 46,XY disorder of sexual development (DSD). Herein, we report a case of the combination of primary adrenal insufficiency, a DSD (testes with female external genitalia in a setting of a 47,XXY karyotype), and Angelman syndrome. Comprehensive genetic analyses were performed, including a single nucleotide polymorphism microarray and whole-exome sequencing. In vitro studies were performed to evaluate the pathogenicity of the novel mutation that was identified by whole-exome sequencing. The patient was found to have segmental uniparental disomy (UPD) of chromosome 15 explaining her diagnosis of Angelman syndrome. Whole-exome sequencing further revealed a novel homozygous intronic variant in CYP11A1, the gene encoding P450scc, found within the region of UPD. In vitro studies confirmed that this variant led to decreased efficiency of CYP11A1 splicing. We report the first case of the combination of 2 rare genetic disorders, Angelman syndrome, and P450scc deficiency. After 20 years of diagnostic efforts, significant advances in genetic diagnostic technology allowed us to determine that these 2 disorders originate from a unified genetic etiology, segmental UPD unmasking a novel recessive mutation in CYP11A1. © 2018 S. Karger AG, Basel.

  16. Comparing effects of Beractant and Poractant alfa in decreasing mortality rate due to respiratory distress syndrome in premature infants

    Directory of Open Access Journals (Sweden)

    Saeidi R

    2011-02-01

    Full Text Available "nBackground: Exogenous natural and synthetic surfactants is a rescue treatment for respiratory distress syndrome (RDS. The goals of the study were to compare the clinical response and side-effects of two frequently used surfactants, poractant alfa (Curosurf and beractant (Survanta, for the treatment of respiratory distress syndrome in preterm infants."n "nMethods: This clinical trial study was performed during a two-year period in the Neonatal Intensive Care Unit of Ghaem Hospital in Mashhad, Iran. Sample size calculated by a 95% confidence and power of 80, included 104 premature neonates, 74 in survanta and 30 in curosurf groups. The level of statistical significance was considered to be < 0.05."n "nResults: There were no statistically significant differences between the infants treated by survanta or cursurf groups regarding their mean gestational age (30.58 Vs. 29.00 weeks and birth weight (1388 Vs. 1330 g, (p=0.3 There were also no significant differences between the two groups regarding incidences of broncho- pulmonary dysplasia (BPD (40.5% Vs. 40%, intraventricular hemorrhage (IVH grades III/IV (13.5% Vs. 13.3%, pneumothorax (both 20%, patent ductus arteriosus (PDA (28/3% Vs. 20% or death (28% Vs. 26.6% on the 28th day postpartum."n "nConclusion: This study showed that survanta and curosurf had similar therapeutic effects in the treatment of neonatal respiratory distress syndrome.

  17. Nance-Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature.

    Science.gov (United States)

    Gómez-Laguna, Laura; Martínez-Herrera, Alejandro; Reyes-de la Rosa, Alejandra Del Pilar; García-Delgado, Constanza; Nieto-Martínez, Karem; Fernández-Ramírez, Fernando; Valderrama-Atayupanqui, Tania Yanet; Morales-Jiménez, Ariadna Berenice; Villa-Morales, Judith; Kofman, Susana; Cervantes, Alicia; Morán-Barroso, Verónica Fabiola

    2018-01-01

    The Nance-Horan syndrome is an X-linked disorder characterized by congenital cataract, facial features, microcornea, microphthalmia, and dental anomalies; most of the cases are due to NHS gene mutations on Xp22.13. Heterozygous carrier females generally present less severe features, and up to 30% of the affected males have intellectual disability. We describe two patients, mother and daughter, manifesting Nance-Horan syndrome. The cytogenetic and molecular analyses demonstrated a 46,X,t(X;1)(p22.13;q22) karyotype in each of them. No copy-number genomic imbalances were detected by high-density microarray analysis. The mother had a preferential inactivation of the normal X chromosome; expression analysis did not detect any mRNA isoform of NHS. This is the first report of Nance-Horan syndrome due to a skewed X chromosome inactivation resulting from a balanced translocation t(X;1) that disrupts the NHS gene expression, with important implications for clinical presentation and genetic counseling.

  18. Toxic shock syndrome due to community-acquired methicillin-resistant Staphylococcus aureus infection: Two case reports and a literature review in Japan.

    Science.gov (United States)

    Sada, Ryuichi; Fukuda, Saori; Ishimaru, Hiroyasu

    2017-01-01

    Community-acquired methicillin-resistant Staphylococcus aureus has been spreading worldwide, including in Japan. However, few cases of toxic shock syndrome caused by Community-acquired methicillin-resistant Staphylococcus aureus have been reported in Japan. We report 2 cases, in middle-aged women, of toxic shock syndrome due to Community-acquired methicillin-resistant Staphylococcus aureus via a vaginal portal of entry. The first patient had used a tampon and the second patient had vaginitis due to a cleft narrowing associated with vulvar lichen sclerosus. Both patients were admitted to our hospital with septic shock and severe acute kidney injury and subsequently recovered with appropriate antibiotic treatment. In our review of the literature, 8 cases of toxic shock syndrome caused by Community-acquired methicillin-resistant Staphylococcus aureus were reported in Japan. In these 8 cases, the main portals of entry were the skin and respiratory tract; however, the portal of entry of Community-acquired methicillin-resistant Staphylococcus aureus from a vaginal lesion has not been reported in Japan previously.

  19. Symptom Severity Following Rifaximin and the Probiotic VSL#3 in Patients with Chronic Pelvic Pain Syndrome (Due to Inflammatory Prostatitis Plus Irritable Bowel Syndrome

    Directory of Open Access Journals (Sweden)

    Enzo Vicari

    2017-11-01

    Full Text Available This study investigated the effects of long-term treatment with rifaximin and the probiotic VSL#3 on uro-genital and gastrointestinal symptoms in patients with chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS plus diarrhoea-predominant irritable bowel syndrome (D-IBS compared with patients with D-IBS alone. Eighty-five patients with CP/CPPS (45 with subtype IIIa and 40 with IIIb plus D-IBS according to the Rome III criteria and an aged-matched control-group of patients with D-IBS alone (n = 75 received rifaximin and VSL#3. The primary endpoints were the response rates of IBS and CP/CPPS symptoms, assessed respectively through Irritable Bowel Syndrome Severity Scoring System (IBS-SSS and The National Institute of Health Chronic Prostatitis Symptom Index (NIH-CPSI, and performed at the start of therapy (V0 and three months after (V3. In IIIa prostatitis patients, the total NIH-CPSI scores significantly (p < 0.05 decreased from a baseline mean value of 21.2 to 14.5 at V3 , as did all subscales, and in the IIIb the total NIH-CPSI score also significantly decreased (from 17.4 to 15.1. Patients with IBS alone showed no significant differences in NIH-CPSI score. At V3, significantly greater improvement in the IBS-SSS and responder rate were found in IIIa patients. Our results were explained through a better individual response at V3 in IIIa prostatitis of urinary and gastrointestinal symptoms, while mean leukocyte counts on expressed prostate secretion (EPS after prostate massage significantly lowered only in IIIa cases.

  20. Symptom Severity Following Rifaximin and the Probiotic VSL#3 in Patients with Chronic Pelvic Pain Syndrome (Due to Inflammatory Prostatitis) Plus Irritable Bowel Syndrome

    Science.gov (United States)

    Salemi, Michele; Sidoti, Giuseppe; Malaguarnera, Mariano; Castiglione, Roberto

    2017-01-01

    This study investigated the effects of long-term treatment with rifaximin and the probiotic VSL#3 on uro-genital and gastrointestinal symptoms in patients with chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS) plus diarrhoea-predominant irritable bowel syndrome (D-IBS) compared with patients with D-IBS alone. Eighty-five patients with CP/CPPS (45 with subtype IIIa and 40 with IIIb) plus D-IBS according to the Rome III criteria and an aged-matched control-group of patients with D-IBS alone (n = 75) received rifaximin and VSL#3. The primary endpoints were the response rates of IBS and CP/CPPS symptoms, assessed respectively through Irritable Bowel Syndrome Severity Scoring System (IBS-SSS) and The National Institute of Health Chronic Prostatitis Symptom Index (NIH-CPSI), and performed at the start of therapy (V0) and three months after (V3). In IIIa prostatitis patients, the total NIH-CPSI scores significantly (p < 0.05) decreased from a baseline mean value of 21.2 to 14.5 at V3 , as did all subscales, and in the IIIb the total NIH-CPSI score also significantly decreased (from 17.4 to 15.1). Patients with IBS alone showed no significant differences in NIH-CPSI score. At V3, significantly greater improvement in the IBS-SSS and responder rate were found in IIIa patients. Our results were explained through a better individual response at V3 in IIIa prostatitis of urinary and gastrointestinal symptoms, while mean leukocyte counts on expressed prostate secretion (EPS) after prostate massage significantly lowered only in IIIa cases. PMID:29099760

  1. Effectiveness of manual therapy versus surgery in pain processing due to carpal tunnel syndrome: A randomized clinical trial.

    Science.gov (United States)

    Fernández-de-Las-Peñas, C; Cleland, J; Palacios-Ceña, M; Fuensalida-Novo, S; Alonso-Blanco, C; Pareja, J A; Alburquerque-Sendín, F

    2017-08-01

    People with carpal tunnel syndrome (CTS) exhibit widespread pressure pain and thermal pain hypersensitivity as a manifestation of central sensitization. The aim of our study was to compare the effectiveness of manual therapy versus surgery for improving pain and nociceptive gain processing in people with CTS. The trial was conducted at a local regional Hospital in Madrid, Spain from August 2014 to February 2015. In this randomized parallel-group, blinded, clinical trial, 100 women with CTS were randomly allocated to either manual therapy (n = 50), who received three sessions (once/week) of manual therapies including desensitization manoeuvres of the central nervous system, or surgical intervention (n = 50) group. Outcomes including pressure pain thresholds (PPT), thermal pain thresholds (HPT or CPT), and pain intensity which were assessed at baseline, and 3, 6, 9 and 12 months after the intervention by an assessor unaware of group assignment. Analysis was by intention to treat with mixed ANCOVAs adjusted for baseline scores. At 12 months, 95 women completed the follow-up. Patients receiving manual therapy exhibited higher increases in PPT over the carpal tunnel at 3, 6 and 9 months (all, p < 0.01) and higher decrease of pain intensity at 3 month follow-up (p < 0.001) than those receiving surgery. No significant differences were observed between groups for the remaining outcomes. Manual therapy and surgery have similar effects on decreasing widespread pressure pain sensitivity and pain intensity in women with CTS. Neither manual therapy nor surgery resulted in changes in thermal pain sensitivity. The current study found that manual therapy and surgery exhibited similar effects on decreasing widespread pressure pain sensitivity and pain intensity in women with carpal tunnel syndrome at medium- and long-term follow-ups investigating changes in nociceptive gain processing after treatment in carpal tunnel syndrome. © 2017 European Pain Federation - EFIC®.

  2. Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene.

    Directory of Open Access Journals (Sweden)

    Hans U Luder

    Full Text Available Jalili syndrome denotes a recessively inherited combination of an eye disease (cone-rod dystrophy and a dental disorder (amelogenesis imperfecta, which is caused by mutations in the CNNM4 gene. Whereas the ophthalmic consequences of these mutations have been studied comprehensively, the dental phenotype has obtained less attention. A defective transport of magnesium ions by the photoreceptors of the retina is assumed to account for the progressive visual impairment. Since magnesium is also incorporated in the mineral of dental hard tissues, we hypothesized that magnesium concentrations in defective enamel resulting from mutations in CNNM4 would be abnormal, if a similar deficiency of magnesium transport also accounted for the amelogenesis imperfecta. Thus, a detailed analysis of the dental hard tissues was performed in two boys of Kosovan origin affected by Jalili syndrome. Retinal dystrophy of the patients was diagnosed by a comprehensive eye examination and full-field electroretinography. A mutational analysis revealed a c.1312 dupC homozygous mutation in CNNM4, a genetic defect which had already been identified in other Kosovan families and putatively results in loss-of-function of the protein. The evaluation of six primary teeth using light and scanning electron microscopy as well as energy-dispersive X-ray spectroscopy showed that dental enamel was thin and deficient in mineral, suggesting a hypoplastic/hypomineralized type of amelogenesis imperfecta. The reduced mineral density of enamel was accompanied by decreased amounts of calcium, but significantly elevated levels of magnesium. In dentin, however, a similar mineral deficiency was associated with reduced magnesium and normal calcium levels. It is concluded that the c.1312 dupC mutation of CNNM4 results in mineralization defects of both enamel and dentin, which are associated with significantly abnormal magnesium concentrations. Thus, we could not disprove the hypothesis that a

  3. Systematic reviews of physical and rehabilitation medicine Cochrane contents. Part 1. Disabilities due to spinal disorders and pain syndromes in adults.

    Science.gov (United States)

    Negrini, S; Imperio, G; Villafañe, J H; Negrini, F; Zaina, F

    2013-08-01

    This article is the first in a series presenting the strongest published evidence for physical and rehabilitation medicine (PRM) to date coming from the Cochrane Collaboration. The intent of the series is to stimulate ideas for reviews and research in neglected areas of PRM. To systematically review the rehabilitation contents of the Cochrane Collaboration on disabilities due to spinal disorders or pain syndromes in adults. The Cochrane Database of Systematic Reviews was searched at the end of June 2013 for articles relevant for PRM about disabilities resulting from spinal disorders or pain syndromes in adults. Retrieved papers were classified according to the PRM approach: active therapies, which require active participation by patients to achieve treatment goals, and passive treatments, which rely on the application of external forces. The quality of the reviews was checked against the AMSTAR checklist. Reviews on spinal disorders or pain syndromes were found in the Cochrane Back Group (CBG) and in the Pain, Palliative and Supportive Care Group (CPPSCG). Thirty-eight (42.8%) of 89 Cochrane reviews in the CBG and 7 (2.4%) of 293 Cochrane reviews in the CPPSCG were included. All were of high quality (range, 8-11 points out of 11 on the AMSTAR checklist). The contents of the reviews are given in detail. This review presents an overview of the current evidence for PRM in the treatment of disabilities due to spinal disorders or pain syndromes in adults. Within PRM there is ample space for research in the Cochrane Collaboration and for producing original studies (randomized controlled trials [RCTs]). To apply evidence-based clinical practice, clinicians must be familiar with the current best evidence.

  4. Hood Canal Steelhead - Hood Canal Steelhead Supplementation Experiment

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — The Hood Canal Steelhead Project is a 17-year before-after-control-impact experiment that tests the effects of supplementation on natural steelhead populations in...

  5. Rhinoplasty via the midface degloving approach for nasal deformity due to nasal polyps: A case report of Woakes’ syndrome

    Directory of Open Access Journals (Sweden)

    Misato Ueda, MD

    2017-09-01

    Full Text Available Nasal polyps are inflammatory proliferative tumors arising from the mucosa of the nasal cavity and paranasal sinuses. Although many cases concerning nasal polyps have been reported, those involving external nasal deformities are rare. We report a case of nasal polyposis filling the nasal cavity and paranasal sinuses, leading to external nasal and facial deformities. The condition above is known as Woakes’ syndrome, which is characterized by severe recurrent nasal polyps with deformity of the nasal pyramid, leading to broadening of the nose. We performed nasal osteotomy and facial bone-shaving via the midface degloving approach, which improved the patient’s facial appearance.

  6. Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

    OpenAIRE

    Haack, Tobias B.; Makowski, Christine; Yao, Yoshiaki; Graf, Elisabeth; Hempel, Maja; Wieland, Thomas; Tauer, Ulrike; Ahting, Uwe; Mayr, Johannes A.; Freisinger, Peter; Yoshimatsu, Hiroki; Inui, Ken; Strom, Tim M.; Meitinger, Thomas; Yonezawa, Atsushi

    2012-01-01

    Brown-Vialetto-Van Laere syndrome (BVVLS [MIM 211530]) is a rare neurological disorder characterized by infancy onset sensorineural deafness and ponto-bulbar palsy. Mutations in SLC52A3 (formerly C20orf54), coding for riboflavin transporter 2 (hRFT2), have been identified as the molecular genetic correlate in several individuals with BVVLS. Exome sequencing of just one single case revealed that compound heterozygosity for two pathogenic mutations in the SLC52A2 gene coding for riboflavin tran...

  7. Recurrent burner syndrome due to presumed cervical spine osteoblastoma in a collision sport athlete – a case report

    Directory of Open Access Journals (Sweden)

    Goins Maurice L

    2007-06-01

    Full Text Available Abstract We present a case of a 35-year-old active rugby player presenting with a history of recurrent burner syndrome thought secondary to an osteoblastoma involving the posterior arch of the atlas. Radiographically, the lesion had features typical for a large osteoid osteoma or osteoblastoma, including osseous expansion, peripheral sclerosis and bony hypertrophy, internal lucency, and even suggestion of a central nidus. The patient subsequently underwent an en bloc resection of the posterior atlas via a standard posterior approach. The surgery revealed very good clinical results. In this report, we will discuss in detail, the presentation, treatment, and return to play recommendations involving this patient.

  8. Impact of canal water shortages on groundwater in the Lower Bari Doab Canal system in Pakistan

    International Nuclear Information System (INIS)

    Shakir, A.S.; Rehman, H.U.; Khan, N.M.; Qazi, A.U.

    2011-01-01

    This paper presents rigorous analysis of shortage of canal water supplies, crop water requirements, and groundwater use and its quality in the command of Lower Bari Doab Canal, Pakistan. The annual canal water supplies are 36% less than the crop water requirements. This shortage further increases to 56% if actual canal supplies (averaged over last ten years) are compared with the crop water requirement. The groundwater levels are depleting at the rate of 30 to 40 cm per year in most parts of the LBDC command and this tendency of lowering may increase in future due to further increase in crop water requirements. The analysis of data for the last seven years indicate that quality of groundwater in most parts of LBDC command is generally good (64% of the area) or marginally acceptable (28%) for irrigation use. However, declining trends in groundwater quality are visible and can create long term sustain ability problems if proper remedial actions are not taken well in time. (author)

  9. Congenital aplasia of the semicircular canals.

    Science.gov (United States)

    Satar, Bulent; Mukherji, Suresh K; Telian, Steven A

    2003-05-01

    To describe the underrecognized inner ear malformation characterized by complete aplasia of the labyrinthine semicircular canals associated with a relatively well-formed cochlea, to investigate its relationship with known syndromic forms of hearing loss, and to hypothesize regarding the potential embryopathogenesis of this anomaly. A retrospective case review consisting of cases of sensorineural hearing loss with radiographic evidence demonstrating agenesis of the semicircular canals associated with a cochlea that was either morphologically normal or sufficiently well developed to accommodate the full insertion of a cochlear implant electrode. Cases were identified by computerized tomography findings that identified the anomaly under study. Departments of otolaryngology and radiology in a tertiary referral center, with a large cochlear implant program serving over 800 patients, more than half of whom are children. Fifteen patients with the anomaly under study were identified. Each patient underwent a complete otologic examination, audiometric studies, and high resolution computerized tomography of the temporal bone in axial and coronal planes. The bony morphology of the cochlea, round and oval windows, vestibule, semicircular canals, and vestibular aqueduct, and the course of the facial nerve were examined. Auditory findings and otologic treatment are presented. Of the 15 identified patients, 4 were nonsyndromic, 9 had CHARGE association (Coloboma of the eye, congenital Heart defects, choanal Atresia, mental and/or growth Retardation, Genital hypoplasia, and Ear anomalies and/or deafness), 1 met criteria for Noonan's syndrome, and one had features of both these syndromes. Although the cochlea was present in all cases, the cochlear morphology was usually abnormal in the CHARGE association patients. Of the 20 ears in the CHARGE subjects, only 3 ears (15%) were seen to have completely normal development of the cochlea in both the basal and upper turns. The others

  10. Carpal tunnel syndrome due to an atypical deep soft tissue leiomyoma: The risk of misdiagnosis and mismanagement

    Directory of Open Access Journals (Sweden)

    Dimitriou Christos G

    2007-08-01

    Full Text Available Abstract Background Leiomyomas of the deep soft tissue are quite uncommon and occur even more rarely in upper extremity. Case presentation A 32-year old manual laborer man presented with a two-year history of numbness, tingling and burning pain in the palmar surface of the left hand and fingers. His medical history was unremarkable and no trauma episode was reported. According to the clinical examination and the result of median nerve conduction study (NCS the diagnosis of carpal tunnel syndrome was established. Operative release of the transverse carpal ligament was subsequently performed but the patient experienced only temporary relief of his symptoms. MRI examination revealed a deep palmary located mass with well-defined margins and ovoid shape. Intraoperatively, the tumor was in continuity with the flexor digitorum superficialis tendon of the middle finger causing substantial compression to median nerve. Histopathological findings of the resected mass were consistent with leiomyoma. After two years the patient was pain-free without signs of tumor recurrence. Conclusion Despite the fact that reports on deep soft tissue leiomyoma are exceptional, this tumor had to be considered as differential diagnosis in painful non-traumatic hand syndromes especially in young patients.

  11. Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques

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    Carlos A. Venegas-Vega

    2013-01-01

    Full Text Available The use of conventional cytogenetic techniques in combination with fluorescent in situ hybridization (FISH and single-nucleotide polymorphism (SNP microarrays is necessary for the identification of cryptic rearrangements in the diagnosis of chromosomal syndromes. We report two siblings, a boy of 9 years and 9 months of age and his 7-years- and 5-month-old sister, with the classic Wolf-Hirschhorn syndrome (WHS phenotype. Using high-resolution GTG- and NOR-banding karyotypes, as well as FISH analysis, we characterized a pure 4p deletion in both sibs and a balanced rearrangement in their father, consisting in an insertion of 4p material within a nucleolar organizing region of chromosome 15. Copy number variant (CNV analysis using SNP arrays showed that both siblings have a similar size of 4p deletion (~6.5 Mb. Our results strongly support the need for conventional cytogenetic and FISH analysis, as well as high-density microarray mapping for the optimal characterization of the genetic imbalance in patients with WHS; parents must always be studied for recognizing cryptic balanced chromosomal rearrangements for an adequate genetic counseling.

  12. Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques

    Science.gov (United States)

    Venegas-Vega, Carlos A.; Zepeda, Luis M.; Garduño-Zarazúa, Luz M.; Berumen, Jaime; Kofman, Susana; Cervantes, Alicia

    2013-01-01

    The use of conventional cytogenetic techniques in combination with fluorescent in situ hybridization (FISH) and single-nucleotide polymorphism (SNP) microarrays is necessary for the identification of cryptic rearrangements in the diagnosis of chromosomal syndromes. We report two siblings, a boy of 9 years and 9 months of age and his 7-years- and 5-month-old sister, with the classic Wolf-Hirschhorn syndrome (WHS) phenotype. Using high-resolution GTG- and NOR-banding karyotypes, as well as FISH analysis, we characterized a pure 4p deletion in both sibs and a balanced rearrangement in their father, consisting in an insertion of 4p material within a nucleolar organizing region of chromosome 15. Copy number variant (CNV) analysis using SNP arrays showed that both siblings have a similar size of 4p deletion (~6.5 Mb). Our results strongly support the need for conventional cytogenetic and FISH analysis, as well as high-density microarray mapping for the optimal characterization of the genetic imbalance in patients with WHS; parents must always be studied for recognizing cryptic balanced chromosomal rearrangements for an adequate genetic counseling. PMID:23484094

  13. Phelan-McDermid syndrome due to SHANK3 mutation in an intellectually disabled adult male: successful treatment with lithium.

    Science.gov (United States)

    Egger, Jos I M; Verhoeven, Willem M A; Groenendijk-Reijenga, Renske; Kant, Sarina G

    2017-09-28

    For 30 years, Phelan and co-workers described a syndrome characterised by neonatal hypotonia, global developmental delay, strongly impaired speech, sleep disturbances and hyperreactivity to sensory stimuli. This Phelan-McDermid syndrome (PMS), also presenting with symptoms from the autism spectrum and a higher risk of developing seizure disorders, may be caused by a deletion of chromosome 22q13 or by a mutation in the SHANK3 gene. Its core psychopathological phenotype comprises symptoms from the bipolar spectrum for which generally treatment with a mood-stabilising anticonvulsant in combination with an atypical antipsychotic seems to be most effective. In addition to two elsewhere published adolescent patients, we here describe in detail the history of an adult male patient with PMS caused by a SHANK3 mutation in whom successive treatment regimens with antipsychotics and mood-stabilising anticonvulsants were all ineffective. Ultimately, addition of lithium to existing olanzapine therapy led to enduring stabilisation of mood and behaviour. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  14. Hypopituitarism in a patient with Beckwith-Wiedemann syndrome due to hypomethylation of KvDMR1.

    Science.gov (United States)

    Baiocchi, Michela; Yousuf, Fatimah Sireen; Hussain, Khalid

    2014-04-01

    Beckwith-Wiedemann syndrome (BWS) is caused by dysregulation of imprinted genes on chromosome 11.p15.5. The syndrome includes overgrowth, macroglossia, organomegaly, abdominal wall defects, hypoglycemia, and long-term malignancy risk. No patient who has BWS has been reported with hypopituitarism. We describe a patient who presented at birth with macrosomia, macroglossia, respiratory distress, jaundice, and hypoglycemia, and who was followed for 4.5 years. Genetic test for BWS was performed, which detected loss of maternal methylation on region KvDMR1 (11p15.5). The hypoglycemia was attributable to hyperinsulinism and was treated with diazoxide and chlorothiazide. She responded well, but the hypoglycemia returned after reducing the diazoxide. It was possible to stop the diazoxide after 2.5 years. On routine follow-up she was noted to be developing short stature. Baseline pituitary and growth hormone (GH) stimulation tests detected GH deficiency and secondary hypothyroidism. A brain MRI showed a small anterior pituitary gland. Thereafter, thyroxine and replacement therapy with GH were started, which resulted in a remarkable improvement in growth velocity. This is the first patient to be reported as having hypopituitarism and BWS. It is unclear if the BWS and the hypopituitarism are somehow connected; however, further investigations are necessary. Hypopituitarism explains the protracted hypoglycemia and the short stature. In our patient, GH therapy seems to be safe, but strict follow-up is required given the increased cancer risk related to BWS.

  15. Streptococcal toxic-shock syndrome due to Streptococcus dysgalactiae subspecies equisimilis in breast cancer-related lymphedema: a case report.

    Science.gov (United States)

    Sumazaki, Makoto; Saito, Fumi; Ogata, Hideaki; Yoshida, Miho; Kubota, Yorichika; Magoshi, Syunsuke; Kaneko, Hironori

    2017-07-14

    Breast cancer-related lymphedema often causes cellulitis and is one of the most common complications after breast cancer surgery. Streptococci are the major pathogens underlying such cellulitis. Among the streptococci, the importance of the Lancefield groups C and G is underappreciated; most cases involve Streptococcus dysgalactiae subspecies equisimilis. Despite having a relatively weak toxicity compared with group A streptococci, Streptococcus dysgalactiae subspecies equisimilis is associated with a mortality rate that is as high as that of group A streptococci in cases of invasive infection because Streptococcus dysgalactiae subspecies equisimilis mainly affects elderly individuals who already have various comorbidities. An 83-year-old Japanese woman with breast cancer-related lymphedema in her left upper limb was referred to our hospital with high fever and acute pain with erythema in her left arm. She showed septic shock with disseminated intravascular coagulation. Blood culture showed positive results for Streptococcus dysgalactiae subspecies equisimilis, confirming a diagnosis of streptococcal toxic-shock syndrome. She survived after successful intensive care. To the best of our knowledge, this case represents the first report of Streptococcus dysgalactiae subspecies equisimilis-induced streptococcal toxic-shock syndrome in a patient with breast cancer-related lymphedema. Breast cancer-related lymphedema is a common problem, and we must pay attention to invasive streptococcal soft tissue infections, particularly in elderly patients with chronic disease.

  16. Effect of Suez Canal Marine Sediment on Sorption of Cesium

    International Nuclear Information System (INIS)

    Hassan, H.B.

    2016-01-01

    Suez Canal is surrounded by navigation, industrial, agricultural activities and suffers from high rate of population growth that discharging waste into Suez Canal. The Suez Canal coastal waters are influenced by a complex variety of physical, geochemical and biological processes, which influence the behavior, transport and fate of containments released into the marine environment. Sorption of releasing containment such as cesium in Suez Canal water is investigated because of its toxic effect on the marine environment. The object of present study is to determine the effects some of physical and chemical characteristics of collected sediment samples from the three important locations on Suez Canal (Suez Bay, Bitter Lakes and El- Temsah Lake beaches) on sorption behavior of cesium by using batch experiment. Batch experiment was used to study the sorption of the cesium ion. The sorption process is dependent on mineral constituents of Suez Canal sediment and their characteristics. Analytical methods which included particle size and X-ray diffraction (XRD) analyses found that particle size of Suez Canal sediment samples is characterized by sand to fine sand and quartz is the main mineralogical species. Distribution coefficient (K d ) which represent geochemical processes and particle size of these sediment samples effect on the degree of cesium sorption to the sediment. Also (K d ) increase with increase cation exchangeable capacity (CEC). The Suez Canal sediment samples have low (K d ) values which effected by their physical and chemical properties. Sample (2) has highest distribution coefficient (K d ) between measured samples due to containing ratio 30% of fine sand and high ratio of organic matter.

  17. External auditory canal carcinoma treatment

    International Nuclear Information System (INIS)

    Matsuda, Yoichi; Ueda, Yoshihisa; Kurita, Tomoyuki; Nakashima, Tadashi

    2010-01-01

    External auditory canal (EAC) carcinomas are relatively rare conditions lack on established treatment strategy. We analyzed a treatment modalities and outcome in 32 cases of EAC squamous cell carcinoma treated between 1980 and 2008. Subjects-17 men and 15 women ranging from 33 to 92 years old (average: 66) were divided by Arriaga's tumor staging into 12 T1, 5 T2, 6 T3, and 9 T4. Survival was calculated by the Kaplan-Meier method. Disease-specific 5-year survival was 100% for T1, T2, 44% for T3, and 33% for T4. In contrast to 100% 5-year survival for T1+T2 cancer, the 5-year survival for T3+T4 cancer was 37% with high recurrence due to positive surgical margins. The first 22 years of the 29 years surveyed, we performed surgery mainly, and irradiation or chemotherapy was selected for early disease or cases with positive surgical margins as postoperative therapy. During the 22-years, 5-year survival with T3+T4 cancer was 20%. After we started superselective intra-arterial (IA) rapid infusion chemotherapy combined with radiotherapy in 2003, we achieved negative surgical margins for advanced disease, and 5-year survival for T3+T4 cancer rise to 80%. (author)

  18. Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis

    NARCIS (Netherlands)

    van Dijk, Fleur S.; Mancini, Grazia M. S.; Maugeri, Alessandra; Cobben, Jan M.

    2017-01-01

    We report two children with Ehlers Danlos, kyphoscoliotic type confirmed by Lysyl Hydroxylase 1 deficiency due to bi-allelic PLOD1 mutations (kEDS-PLOD1) who were initially thought to have either a diagnosis of classical EDS (cEDS) or a neuromuscular disorder due to absence of (congenital)

  19. Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism.

    Science.gov (United States)

    Gigante, Laura; Paganini, Irene; Frontali, Marina; Ciabattoni, Serena; Sangiuolo, Federica Carla; Papi, Laura

    2016-01-01

    Rhabdoid tumors are aggressive malignancies that show loss-of-function mutations of SMARCB1 gene, a member of the SWI/SNF chromatin-remodeling complex controlling gene transcription. One-third of patients affected by rhabdoid tumor harbor a germ-line mutation of SMARCB1 defining a rhabdoid tumor predisposition syndrome. The occurrence of a second somatic mutation determines the development of neoplasia in a two-hit model. Most germ-line mutations occur de novo, and few cases of recurrence in a sibship have been described. Here we report on a new Italian family with recurrence of SMARCB1 germ-line deletion in two siblings due to gonadal mosaicism. The deletion was identified in the 9-month-old proband with malignant rhabdoid tumor of the right kidney and disseminated metastases. Testing of both parents confirmed the de novo origin of the mutation, but recurrence was then detected prenatally in a new pregnancy. This is the sixth family with malignant rhabdoid tumor predisposition syndrome with the recurrence of the same germ-line SMARCB1 mutation in the sibship but not in healthy parents, suggesting that gonadal mosaicism is a less rare event than supposed. The clinical outcome in our patient confirms previous data of poorer outcome in patients with rhabdoid tumor predisposition syndrome.

  20. Wolff-Parkinson-White syndrome and noncompaction in Leber's hereditary optic neuropathy due to the variant m.3460G>A.

    Science.gov (United States)

    Finsterer, Josef; Stollberger, Claudia; Gatterer, Edmund

    2018-05-01

    This report describes a 66-year-old Caucasian male who acutely developed severe, bilateral impairment of visual acuity at 24 years of age. Leber's hereditary optic neuropathy (LHON) was suspected but the diagnosis was not genetically confirmed until the age of 49 years when the primary LHON mutation m.3460G>A was detected. Since onset, visual acuity had slightly improved. The family history was positive for LHON (brother, two sisters of mother, female cousin) and genetically confirmed in his brother and one aunt. Since the age of 65 years, he had experienced recurrent vertigo. His cardiological history was positive for arterial hypertension, noncompaction, myocardial thickening, intermittent right bundle-branch-block (RBBB) and Wolff-Parkinson-White (WPW) syndrome. In addition to LHON, he presented with polyneuropathy, hyperCKaemia, carotid artery occlusion, and a history of stroke. Cardiological investigations at 66 years of age revealed mildly reduced systolic function, enlarged atria, and nonsustained ventricular tachycardias. He underwent an electrophysiological investigation, but radiofrequency ablation was ruled out due to a 'bizarre' cardiac conduction system. Instead, an implantable cardioverter defibrillator was proposed but refused by the patient. Since the vertigo did not resolve it was attributed to polyneuropathy. This case demonstrates that LHON may be associated with noncompaction, myocardial thickening, reduced systolic function, enlarged atria, RBBB, WPW syndrome and nonsustained ventricular tachycardias. WPW syndrome in LHON may require invasive antiarrhythmic treatment.

  1. Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1.

    Science.gov (United States)

    Popp, Bernt; Trollmann, Regina; Büttner, Christian; Caliebe, Almuth; Thiel, Christian T; Hüffmeier, Ulrike; Reis, André; Zweier, Christiane

    2016-10-01

    Williams-Beuren syndrome (WBS) is a relatively common, clinically recognizable microdeletion syndrome. In most cases the typical heterozygous deletion of 1.5 Mb on chromosome 7q11.23 spanning about 26 genes can be identified. Also some larger or smaller atypical deletions have been reported and associated with additional or atypical phenotypic aspects. We report on an individual with typical WBS due to the common deletion and with refractory infantile spasms. Using trio-exome sequencing, we identified a de novo truncating variant c.1200del, p (Lys401Serfs*25) in GABRA1 as the likely cause of the early onset epilepsy. This unique case not only allows to further define the phenotypic spectrum of infantile epileptic encephalopathy associated with rare de novo GABRA1 variants but exemplifies the need for a sensitive review of unclear associations in clinically defined syndromes and for extended diagnostic work-up in individuals with unusual presentations of a genetically confirmed diagnosis. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  2. Pleural empyema and streptococcal toxic shock syndrome due to Streptococcus pyogenes in a healthy Spanish traveler in Japan

    Directory of Open Access Journals (Sweden)

    Tetsuya Sakai

    2017-01-01

    Full Text Available Group A Streptococcus (GAS, Streptococcus pyogenes causes invasive infections including streptococcal toxic shock syndrome (STSS and local infections. To our knowledge, this is the first report of a case of an invasive GAS infection with pneumonia and pleural empyema (PE followed by STSS (disseminated intravascular coagulation [DIC] and acute renal insufficiency in a healthy male adult. He received combined supportive therapies of PE drainage, anti-DIC agent, hemodialysis, and antimicrobials and eventually made a clinical recovery. GAS isolated from PE was found to have emm1/speA genes, suggestive of a pathogenic strain. Clinicians should be aware of the possibility of this disease entity (pneumonia, PE, and STSS in healthy male adults as well as children and adult women.

  3. Successful Pregnancies and Deliveries in a Patient With Evolving Hypopituitarism due to Pituitary Stalk Transection Syndrome: Role of Growth Hormone Replacement

    Science.gov (United States)

    Yoshizawa, Miyako; Ieki, Yasuhiko; Takazakura, Eisuke; Fukuta, Kaori; Hidaka, Takao; Wakasugi, Takanobu; Shimatsu, Akira

    2017-01-01

    We herein report a 31-year-old Japanese woman with evolving hypopituitarism due to pituitary stalk transection syndrome. She had a history of short stature treated with growth hormone (GH) in childhood and had hypothyroidism and primary amenorrhea at 20 years old. Levothyroxine replacement and recombinant follicle stimulating hormone-human chorionic gonadotropin (FSH-hCG) therapy for ovulation induction were started. GH replacement therapy (GHRT) was resumed when she was 26 years old. She developed mild adrenocortical insufficiency at 31 years old. She succeeded in becoming pregnant and delivered twice. GHRT was partially continued during pregnancy and stopped at the end of the second trimester without any complications. PMID:28250299

  4. Crouzon’s Syndrome with Life-Threatening Ear Bleed: Ruptured Jugular Vein Diverticulum Treated by Endovascular Embolization

    Energy Technology Data Exchange (ETDEWEB)

    Mondel, Prabath Kumar, E-mail: prabathmondel@gmail.com; Anand, Sunanda, E-mail: sunandaanand@gmail.com; Limaye, Uday S., E-mail: uslkem@gmail.com [Lilavati Hospital and Research Centre, Department of Interventional Neuroradiology (India)

    2015-08-15

    Crouzon’s syndrome is the commonest variety of syndromic craniosynostosis. Life-threatening ear bleed due to ruptured jugular venous diverticulum in Crouzon’s syndrome has not been described previously. In patients with syndromic craniosynostosis, definitive repair of jugular diverticulum by open surgery is fraught with high risk of bleeding, poor functional outcomes, and even death. A 24-year-old woman with Crouzon’s syndrome presented with conductive hearing loss and recurrent episodes of torrential bleeding from her left ear. On computed tomography, a defect in the roof of jugular fossa containing jugular venous diverticulum immediately inferior to the bony external auditory canal was seen. The clinical presentation, imaging features, and endovascular management of Crouzon’s syndrome due to a ruptured jugular venous diverticulum is described.

  5. Crouzon’s Syndrome with Life-Threatening Ear Bleed: Ruptured Jugular Vein Diverticulum Treated by Endovascular Embolization

    International Nuclear Information System (INIS)

    Mondel, Prabath Kumar; Anand, Sunanda; Limaye, Uday S.

    2015-01-01

    Crouzon’s syndrome is the commonest variety of syndromic craniosynostosis. Life-threatening ear bleed due to ruptured jugular venous diverticulum in Crouzon’s syndrome has not been described previously. In patients with syndromic craniosynostosis, definitive repair of jugular diverticulum by open surgery is fraught with high risk of bleeding, poor functional outcomes, and even death. A 24-year-old woman with Crouzon’s syndrome presented with conductive hearing loss and recurrent episodes of torrential bleeding from her left ear. On computed tomography, a defect in the roof of jugular fossa containing jugular venous diverticulum immediately inferior to the bony external auditory canal was seen. The clinical presentation, imaging features, and endovascular management of Crouzon’s syndrome due to a ruptured jugular venous diverticulum is described

  6. Novel navigation technique for the endodontic treatment of a molar with pulp canal calcification and apical pathology.

    Science.gov (United States)

    Shi, Xilin; Zhao, Shiyong; Wang, Weidong; Jiang, Qianzhou; Yang, Xuechao

    2018-04-01

    Apical periodontitis, the inflammation of periapical tissue, commonly requires root canal treatment to achieve apical healing. However, if it is accompanied by pulp canal calcification, the treatment becomes complicated, and locating the root canal can be challenging. This case report describes a novel approach for treating a molar with pulp canal calcification and apical pathology. Due to the risk of perforation during treatment, a digitally printed template was used to assist in accurately locating the root canal. After six months, the patient was asymptomatic and the periradicular radiolucency was gradually reducing in size. © 2017 Australian Society of Endodontology Inc.

  7. Metabolic syndrome as a risk factor for total hip or knee replacement due to primary osteoarthritis: a prospective cohort study (the HUNT study and the Norwegian Arthroplasty Register).

    Science.gov (United States)

    Hellevik, Alf Inge; Johnsen, Marianne Bakke; Langhammer, Arnulf; Baste, Valborg; Furnes, Ove; Storheim, Kjersti; Zwart, John Anker; Flugsrud, Gunnar Birkeland; Nordsletten, Lars

    2018-01-01

    Biochemical changes associated with obesity may accelerate osteoarthritis beyond the effect of mechanical factors. This study investigated whether metabolic syndrome and its components (visceral obesity, hypertension, dyslipidemia and insulin resistance) were risk factors for subsequent total hip replacement (THR) or total knee replacement (TKR) due to primary osteoarthritis. In this prospective cohort study, data from the second survey of the Nord-Trøndelag Health Study 2 (HUNT2) were linked to the Norwegian Arthroplasty Register for identification of the outcome of THR or TKR. The analyses were stratified by age (<50, 50-69.9 and ≥70 years) and adjusted for gender, body mass index, smoking, physical activity and education. Of the 62,661 participants, 12,593 (20.1%) were identified as having metabolic syndrome, and we recorded 1,840 (2.9%) THRs and 1,111 (1.8%) TKRs during a mean follow-up time of 15.4 years. Cox regression analyses did not show any association between full metabolic syndrome and THR or TKR, except in persons <50 years with metabolic syndrome who had a decreased risk of THR (hazard ratio [HR] 0.58, 95% CI 0.40-0.83). However, when including only participants whose exposure status did not change during follow-up, this protective association was no longer significant. Increased waist circumference was associated with increased risk of TKR in participants <50 years (HR 1.62, 95% CI 1.10-2.39) and 50-69.9 years (HR 1.43, 95% CI 1.14-1.80). Hypertension significantly increased the risk of TKR in participants <50 years (HR 1.38, 95% CI 1.05-1.81), and this risk was greater for men. This study found an increased risk of TKR in men <50 years with hypertension and persons <70 years with increased waist circumference. Apart from this, neither metabolic syndrome nor its components were associated with increased risk of THR or TKR due to primary osteoarthritis.

  8. Compartment syndrome like picture in metaphyseal comminuted fracture of tibia treated by locking plate due to tight closure

    Directory of Open Access Journals (Sweden)

    Prafulla Herode

    2013-01-01

    Full Text Available A 22-year-old male came to casualty on 5 th May 2012 after a fall from motorcycle. He complained of excruciating pain and swelling over right knee. There was an open wound of 7 × 2 cm over supra-patellar region and diffuse swelling over knee joint with severe tenderness over proximal aspect of right tibia. X-ray showed intra-articular fracture of proximal tibia extending to diaphysis classified as type 6 by Schatzker classification for proximal tibia, with fibula shaft transverse fracture. The skin over the fracture was contused. Debridement with primary wound closure was done in emergency. Skeletal traction was applied through a lower tibial Steinman pin. Patient was operated after 15 days when wound healed and swelling subsided. Locking plate was applied on medial aspect using Minimally invasive percutaneous plate osteosysthesis (MIPPO technique. Post-operatively over 4 hours patient developed severe pain and swelling in operated leg which mimicked compartment syndrome. Suture removal was done immediately in the ward from the distal aspect, which relieved the symptoms but lead to exposure of the plate. A rotational flap was done to cover the plate in coordination with a plastic surgeon on the next day.

  9. Beauty parlor stroke syndrome due to a bone fragment from an osteophyte of the atlas: case report.

    Science.gov (United States)

    Kameda, Takuya; Otani, Koji; Tamura, Takamitsu; Konno, Shinichi

    2018-04-01

    Beauty parlor stroke syndrome (BPSS) is a rare condition characterized by mechanical impingement of a vertebral artery (VA) during neck rotation and/or hyperextension followed by vertebrobasilar insufficiency. However, there have been no reports of BPSS in which the cause of mechanical impingement was identified and no cases for which surgical treatment was reported. The authors report the case of a 56-year-old Japanese man who presented with presyncope that occurred during cervical extension. Given the possibility of vertebrobasilar insufficiency, digital subtraction angiography and CT angiography were performed. These studies revealed that the right VA was hypoplastic and the left VA was dominant. Moreover, in the position of cervical extension, the dominant left VA showed constriction caused by a bone fragment of an osteophyte of the atlas. Removal of the bone fragment was performed. Postoperative left vertebral angiography showed improvement of blood flow in the extended position, and the presyncope completely disappeared. The pathomechanism of this case was a bone fragment compressing the left VA in the C-1 groove during neck extension. In BPSS patients with recurrent transient symptoms, the possibility of this mechanism of VA constriction by a free bone fragment should be considered.

  10. Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.

    Science.gov (United States)

    Haack, Tobias B; Makowski, Christine; Yao, Yoshiaki; Graf, Elisabeth; Hempel, Maja; Wieland, Thomas; Tauer, Ulrike; Ahting, Uwe; Mayr, Johannes A; Freisinger, Peter; Yoshimatsu, Hiroki; Inui, Ken; Strom, Tim M; Meitinger, Thomas; Yonezawa, Atsushi; Prokisch, Holger

    2012-11-01

    Brown-Vialetto-Van Laere syndrome (BVVLS [MIM 211530]) is a rare neurological disorder characterized by infancy onset sensorineural deafness and ponto-bulbar palsy. Mutations in SLC52A3 (formerly C20orf54), coding for riboflavin transporter 2 (hRFT2), have been identified as the molecular genetic correlate in several individuals with BVVLS. Exome sequencing of just one single case revealed that compound heterozygosity for two pathogenic mutations in the SLC52A2 gene coding for riboflavin transporter 3 (hRFT3), another member of the riboflavin transporter family, is also associated with BVVLS. Overexpression studies confirmed that the gene products of both mutant alleles have reduced riboflavin transport activities. While mutations in SLC52A3 cause decreased plasma riboflavin levels, concordant with a role of SLC52A3 in riboflavin uptake from food, the SLC52A2-mutant individual had normal plasma riboflavin concentrations, a finding in line with a postulated function of SLC52A2 in riboflavin uptake from blood into target cells. Our results contribute to the understanding of human riboflavin metabolism and underscore its role in the pathogenesis of BVVLS, thereby providing a rational basis for a high-dose riboflavin treatment.

  11. Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy

    Energy Technology Data Exchange (ETDEWEB)

    Cassidy, S.B.; Lai, Li-Wen; Erickson, R.P. (Univ. of Arizona College of Medicine, Tucson, AZ (United States)); Magnuson, L.; Thomas, E.; Herrmann, J. (Great Lakes Genetics, Milwaukee, AZ (United States)); Gendron, R. (Great Lakes Genetics, Kingsport, TN (United States))

    1992-10-01

    Uniparental disomy has recently been recognized to cause human disorders, including Prader-Willi syndrome (PWS). The authors describe a particularly instructive case which raises important issues concerning the mechanisms producing uniparental disomy and whose evaluation provides evidence that trisomy may precede uniparental disomy in a fetus. Chorionic villus sampling performed for advanced maternal age revealed trisomy 15 in all direct and cultured cells, though the fetus appeared normal. Chromosome analysis of amniocytes obtained at 15 wk was normal in over 100 cells studied. The child was hypotonic at birth, and high-resolution banding failed to reveal the deletion of 15q11-13, a deletion which is found in 50%-70% of patients with PWS. Over time, typical features of PWS developed. Molecular genetic analysis using probes for chromosome 15 revealed maternal disomy. Maternal nondisjunction with fertilization of a disomic egg by a normal sperm, followed by loss of the paternal 15, is a likely cause of confined placental mosaicism and uniparental disomy in this case of PWS, and advanced maternal age may be a predisposing factor. 38 refs., 3 figs., 2 tabs.

  12. Hydrops fetalis and pulmonary lymphangiectasia due to FOXC2 mutation: an autosomal dominant hereditary lymphedema syndrome with variable expression.

    Science.gov (United States)

    de Bruyn, Gwendolyn; Casaer, Alexandra; Devolder, Katrien; Van Acker, Geert; Logghe, Hilde; Devriendt, Koen; Cornette, Luc

    2012-03-01

    Non-immune hydrops fetalis may find its origin within genetically determined lymphedema syndromes, caused by mutations in FOXC2 and SOX-18. We describe a newborn girl, diagnosed with non-immune hydrops fetalis at a gestational age of 30 weeks. Family history revealed the presence of an autosomal dominant late-onset form of lymphedema of the lower limbs in her father, associated with an aberrant implantation of the eyelashes in some individuals. The newborn, hydropic girl suffered from severe pulmonary lymphangiectasia, resulting in terminal respiratory failure at the age of 3 months. Genetic analysis in both the father and the newborn girl demonstrated a heterozygous FOXC2 mutation, i.e., c.939C>A, p.Tyr313X. Her two older sisters are currently asymptomatic and the parents decided not to test them for the FOXC2 mutation. Patients with a mutation in the FOXC2 transcription factor usually show lower limb lymphedema with onset at or after puberty, together with distichiasis. However, the eye manifestations can be very mild and easily overlooked. The association between FOXC2 mutation and neonatal hydrops resulting in terminal respiratory failure is not reported so far. Therefore, in sporadic patients diagnosed with non-immune hydrops fetalis, lymphangiogenic genes should be systematically screened for mutations. In addition, all cases of fetal edema must prompt a thorough analysis of the familial pedigree, in order to detect familial patterns and to facilitate adequate antenatal counseling.

  13. Is Efficacy of the Anti-Cd20 Antibody Rituximab Preventing Hemolysis Due to Passenger Lymphocyte Syndrome?

    Science.gov (United States)

    Tsujimura, Kazuma; Ishida, Hideki; Tanabe, Kazunari

    2017-02-01

    Passenger lymphocyte syndrome (PLS) often occurs after ABO-mismatched solid organ and/or bone marrow transplantation between a donor and recipient. Viable donor B-lymphocytes transferred during organ transplantation produce antibodies against recipient red cell antigens, leading to hemolysis. The incidence of PLS has been reported to be around 9% after renal transplantation. A previous report showed that rituximab (Rit) was useful for treatment of PLS in allogeneic stem cell transplantation, bowel transplant and severe cases of hemolysis. However, the effectiveness of Rit in preventing PLS after renal transplantation has not yet been evaluated. The participants in this study were 85 patients who had undergone ABO-mismatched renal transplantation from January 2005 to April 2013. Rit was administered to these patients before transplantation. None of the patients that received Rit treatment developed PLS. Thus administration of Rit before transplantation effectively controlled the production of antibodies by B-lymphocytes, which probably prevented the development of PLS. © 2016 International Society for Apheresis, Japanese Society for Apheresis, and Japanese Society for Dialysis Therapy.

  14. [A case of anaphylaxis due to rose-flavored soft-serve ice cream with pollen food allergy syndrome].

    Science.gov (United States)

    Kitabayashi, Taeru; Sato, Sayuri; Adachi, Mitsuru

    2013-05-01

    We experienced a 10-year-old boy who had anaphylaxis after eating rose-flavored soft-serve ice cream. The patient felt a sense of discomfort in his throat when eating apple, peach, loquat, Japanese pear, and kiwi fruit. Therefore, we measured specific IgE antibodies to allergen components by ImmunoCAP ISAC. Consequently, the patient gave positive results for all PR-10 proteins from birch, alder, hazel, apple, peach, peanut, hazelnut, and soybean, so we diagnosed him with Pollen Food Allergy Syndrome (PFAS) induced by cross reactivity with pollens of birch family and fruits of rose family. When we conducted the skin prick test as is for red rose syrup because of the belief that anaphylaxis was caused by the rose ingredient contained in rose-flavored soft-serve ice cream, the patient gave a strong positive result. However, the results were negative for rose essence and Food Red No. 2 contained. Subsequently, it was found that red rose syrup contained apple juice. Therefore, we conducted the prick-prick test for apple, and the patient was confirmed to be strongly positive to apple. We thus identified apple as the cause of anaphylaxis. Since there is no legal obligation of labeling specific raw materials when directly selling manufactured and processed food products to general consumers, it is possible for general consumers to mistakenly take them in without knowing the containment of allergic substances. It is believed that the labeling method should be improved in the future.

  15. Long-Term Effect of GPi-DBS in a Patient With Generalized Dystonia Due to GLUT1 Deficiency Syndrome

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    Idil Hanci

    2018-05-01

    Full Text Available Treatment outcomes from pallidal deep brain stimulation are highly heterogeneous reflecting the phenotypic and etiologic spectrum of dystonia. Treatment stratification to neurostimulation therapy primarily relies on the phenotypic motor presentation; however, etiology including genetic factors are increasingly recognized as modifiers of treatment outcomes. Here, we describe a 53 year-old female patient with a progressive generalized dystonia since age 25. The patient underwent deep brain stimulation of the globus pallidus internus (GPi-DBS at age 44. Since the clinical phenotype included mobile choreo-dystonic features, we expected favorable therapeutic outcome from GPi-DBS. Although mobile dystonia components were slightly improved in the long-term outcome from GPi-DBS the overall therapeutic response 9 years from implantation was limited when comparing “stimulation off” and “stimulation on” despite of proper electrode localization and sufficient stimulation programming. In order to further understand the reason for this limited motor symptom response, we aimed to clarify the etiology of generalized dystonia in this patient. Genetic testing identified a novel heterozygous pathogenic SLC2A1 mutation as cause of glucose transporter type 1 deficiency syndrome (GLUT1-DS. This case report presents the first outcome of GPi-DBS in a patient with GLUT1-DS, and suggests that genotype relations may increasingly complement phenotype-based therapy stratification of GPi-DBS in dystonia.

  16. MRI Shows that Exhaustion Syndrome Due to Chronic Occupational Stress is Associated with Partially Reversible Cerebral Changes.

    Science.gov (United States)

    Savic, I; Perski, A; Osika, W

    2018-03-01

    The present study investigates the cerebral effects of chronic occupational stress and its possible reversibility. Forty-eight patients with occupational exhaustion syndrome (29 women) and 80 controls (47 women) underwent structural magnetic resonance imaging (MRI) and neuropsychological testing. Forty-four participants (25 patients, 19 controls) also completed a second MRI scan after 1-2 years. Only patients received cognitive therapy. The stressed group at intake had reduced thickness in the right prefrontal cortex (PFC) and left superior temporal gyrus (STG), enlarged amygdala volumes, and reduced caudate volumes. Except for the caudate volume, these abnormalities were more pronounced in females. They were all related to perceived stress, which was similar for both genders. Thickness of the PFC also correlated with an impaired ability to down-modulate negative emotions. Thinning of PFC and reduction of caudate volume normalized in the follow-up. The amygdala enlargement and the left STG thinning remained. Longitudinal changes were not detected among controls. Chronic occupational stress was associated with partially reversible structural abnormalities in key regions for stress processing. These changes were dynamically correlated with the degree of perceived stress, highlighting a possible causal link. They seem more pronounced in women, and could be a substrate for an increased cerebral vulnerability to stress-related psychiatric disorders. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  17. A Novel Porcine Model of Septic Shock Induced by Acute Respiratory Distress Syndrome due to Methicillin-resistant Staphylococcus aureus

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    Shuo Wang

    2017-01-01

    Conclusions: In the present study, we developed a novel porcine model of septic shock induced by ARDS due to severe MRSA pneumonia with characteristic hyperdynamic and hypodynamic phases in 24 h, which mimicked the hemodynamic changing of septic shock in human.

  18. Time-dependent changes in pulmonary surfactant function and composition in acute respiratory distress syndrome due to pneumonia or aspiration

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    Kuchenbuch Tim

    2007-07-01

    Full Text Available Abstract Background Alterations to pulmonary surfactant composition have been encountered in the Acute Respiratory Distress Syndrome (ARDS. However, only few data are available regarding the time-course and duration of surfactant changes in ARDS patients, although this information may largely influence the optimum design of clinical trials addressing surfactant replacement therapy. We therefore examined the time-course of surfactant changes in 15 patients with direct ARDS (pneumonia, aspiration over the first 8 days after onset of mechanical ventilation. Methods Three consecutive bronchoalveolar lavages (BAL were performed shortly after intubation (T0, and four days (T1 and eight days (T2 after intubation. Fifteen healthy volunteers served as controls. Phospholipid-to-protein ratio in BAL fluids, phospholipid class profiles, phosphatidylcholine (PC molecular species, surfactant proteins (SP-A, -B, -C, -D, and relative content and surface tension properties of large surfactant aggregates (LA were assessed. Results At T0, a severe and highly significant reduction in SP-A, SP-B and SP-C, the LA fraction, PC and phosphatidylglycerol (PG percentages, and dipalmitoylation of PC (DPPC was encountered. Surface activity of the LA fraction was greatly impaired. Over time, significant improvements were encountered especially in view of LA content, DPPC, PG and SP-A, but minimum surface tension of LA was not fully restored (15 mN/m at T2. A highly significant correlation was observed between PaO2/FiO2 and minimum surface tension (r = -0.83; p Conclusion We concluded that a profound impairment of pulmonary surfactant composition and function occurs in the very early stage of the disease and only gradually resolves over time. These observations may explain why former surfactant replacement studies with a short treatment duration failed to improve outcome and may help to establish optimal composition and duration of surfactant administration in future

  19. Outer Retinal Changes Including the Ellipsoid Zone Band in Usher Syndrome 1B due to MYO7A Mutations.

    Science.gov (United States)

    Sumaroka, Alexander; Matsui, Rodrigo; Cideciyan, Artur V; McGuigan, David B; Sheplock, Rebecca; Schwartz, Sharon B; Jacobson, Samuel G

    2016-07-01

    To study transition zones from normal to abnormal retina in Usher syndrome IB (USH1B) caused by myosin 7A (MYO7A) mutations. Optical coherence tomography (OCT) scattering layers in outer retina were segmented in patients (n = 16, ages 2-42; eight patients had serial data, average interval 4.5 years) to quantify outer nuclear layer (ONL) and outer segments (OS) as well as the locus of EZ (ellipsoid zone) edge and its extent from the fovea. Static perimetry was measured under dark-adapted (DA) and light-adapted (LA) conditions. Ellipsoid zone edge in USH1B-MYO7A could be located up to 23° from the fovea. Ellipsoid zone extent constricted at a rate of 0.51°/year with slower rates at smaller eccentricities. A well-defined EZ line could be associated with normal or abnormal ONL and/or OS thickness; detectable ONL extended well beyond EZ edge. At the EZ edge, the local slope of LA sensitivity loss was 2.6 (±1.7) dB/deg for central transition zones. At greater eccentricities, the local slope of cone sensitivity loss was shallower (1.1 ± 0.4 dB/deg for LA) than that of rod sensitivity loss (2.8 ± 1.2 dB/deg for DA). In USH1B-MYO7A, constriction rate of EZ extent depends on the initial eccentricity of the transition. Ellipsoid zone edges in the macula correspond to large local changes in cone vision, but extramacular EZ edges show more pronounced losses on rod-based vision tests. It is advisable to use not only the EZ line but also other structural and functional parameters for estimating natural history of disease and possible therapeutic effects in future clinical trials of USH1B-MYO7A.

  20. End-stage kidney disease due to haemolytic uraemic syndrome – outcomes in 241 consecutive ANZDATA registry cases

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    Tang Wen

    2012-12-01

    Full Text Available Abstract Background The aim of this study was to investigate the characteristics and outcomes of patients receiving renal replacement therapy for end-stage kidney disease (ESKD secondary to haemolytic uraemic syndrome (HUS. Methods The study included all patients with ESKD who commenced renal replacement therapy in Australia and New Zealand between 15/5/1963 and 31/12/2010, using data from the ANZDATA Registry. HUS ESKD patients were compared with matched controls with an alternative primary renal disease using propensity scores based on age, gender and treatment era. Results Of the 58422 patients included in the study, 241 (0.4% had ESKD secondary to HUS. HUS ESKD was independently associated with younger age, female gender and European race. Compared with matched controls, HUS ESKD was not associated with mortality on renal replacement therapy (adjusted hazard ratio [HR] 1.14, 95% CI 0.87-1.50, p = 0.34 or dialysis (HR 1.34, 95% CI 0.93-1.93, p = 0.12, but did independently predict recovery of renal function (HR 54.01, 95% CI 1.45-11.1, p = 0.008. 130 (54% HUS patients received 166 renal allografts. Overall renal allograft survival rates were significantly lower for patients with HUS ESKD at 1 year (73% vs 91%, 5 years (62% vs 85% and 10 years (49% vs 73%. HUS ESKD was an independent predictor of renal allograft failure (HR 2.59, 95% CI 1.70-3.95, p  Conclusions HUS is an uncommon cause of ESKD, which is associated with comparable patient survival on dialysis, an increased probability of renal function recovery, comparable patient survival post-renal transplant and a heightened risk of renal transplant graft failure compared with matched ESKD controls.

  1. El Canal del Atazar I

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    López de Berges y de los Santos, Emilio

    1967-03-01

    Full Text Available The Atazar Canal helps to supply Madrid with water, from the rivers Lozoya, Jarama and Sorbe. The section which operates at present starts at the Torrelaguna dam and finishes at the El Goloso reservoir. Later a further section will be added, from the Atazar dam, on the Lozoya river, to link up with the control dam at Torrelaguna. The canal capacity is 16 m3/sec, and it is 43.47 km long. It has a slope of 4/10.000. The cross section is similar to that of the Jarama canal, already built. There are interconnections between this canal and the Canal Alto, which previously supplied the high and medium part of Madrid. To overcome the ground unevenness 5 syphons have been built, the most important of which is the Colmenar Goloso syphon, which is 10.88 km in length. Construction commenced on December 10, 1962, and water reached Madrid on June 15th, 1966. The initial budget for this project was 1,500 million pesetas.El canal del Atazar refuerza considerablemente el abastecimiento de aguas a Madrid, procedentes de los ríos Lozoya, Jarama y, en un próximo futuro, del Sorbe. El tramo, actualmente en funcionamiento, empieza en el salto de Torrelaguna y finaliza en los depósitos de El Goloso. Más adelante se completará su trazado mediante un nuevo tramo que partirá del embalse de Atazar, en el Lozoya, para unirse al actual en el depósito regulador de Torrelaguna. Su capacidad es de 16 m3/s; su longitud, 43,471 km, y su pendiente, 4 diezmilésimas. La sección tipo es análoga a la del canal del Jarama, de construcción anterior. Mediante la oportuna obra de transvase se realizan intercambios entre este Canal y el Canal Alto que abastecía anteriormente la parte media y alta de la capital. Para salvar los desniveles del terreno se han construido 5 sifones, siendo el más importante el de Colmenar-Goloso, con una longitud de 10,8S4 km. El comienzo de las obras tuvo lugar el 10 de diciembre de 1962, y el agua llegó a Madrid el 15 de junio de 1966. Su

  2. Interaction Between Syndromic and Non-Syndromic Factors Affecting Speech and Language Development in Treacher-Collins Syndrome

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    Marziyeh Poorjavad

    2011-09-01

    Full Text Available Background: Treacher-Collins syndrome is a congenital craniofacial disorder with multiple anomalies. This syndrome affects the maxilla, mandible, eyes, middle and outer ears, and soft palate. Conductive hearing loss due to the deformities of the middle and external ears is prevalent. The characteristics of this syndrome include multiple and serious threats to normal communication development in children. In this study, speech and language features of a Persian speaking child with this syndrome are presented.Case: The case was an 8-year old girl with Treacher-Collins syndrome and bilateral moderate conductive hearing loss due to atretic canal. In language and speech assessments, moderate hypernasality, numerous compensatory errors and morphosyntactic deficits were observed. There were 13 phonemes that were incorrectly produced at least in one position. Besides, she used 22 types of phonological processes that were abnormal and disappear before the age of three in normal Persian speaking children.Conclusion: Moderate hearing loss, velopharyngeal incompetency, malocclusion and dental anomalies, attention deficit/hyperactivity disorder (ADHD and environmental factors resulted in severe speech and language disorders in this case. These disorders affected her academic performance as well. Moderate hypernasality, numerous compensatory errors, and excessive and abnormal use of phonological processes were not presented as prevalent characteristics of Treacher-Collins syndrome in other resources.

  3. Superior canal dehiscence in a patient with three failed stapedectomy operations for otosclerosis: a case report

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    Sudhoff Holger H

    2011-02-01

    Full Text Available Abstract Introduction This case illustrates that superior semicircular canal dehiscence syndrome can be associated with a "pseudo"-conductive hearing loss, a symptom that overlaps with the clinical appearance of otosclerosis. Case presentation We present the case of a 48-year-old German Caucasian woman presenting with hearing loss on the left side and vertigo. She had undergone three previous stapedectomies for hearing improvement. Reformatted high-resolution computed tomographic scanning and the patient's history confirmed the diagnosis of concurrent canal dehiscence syndrome. Conclusion Failure of hearing improvement after otosclerosis surgery may indicate an alternative underlying diagnosis which should be explored by further appropriate evaluation.

  4. Interaction of Aquifer and River-Canal Network near Well Field.

    Science.gov (United States)

    Ghosh, Narayan C; Mishra, Govinda C; Sandhu, Cornelius S S; Grischek, Thomas; Singh, Vikrant V

    2015-01-01

    The article presents semi-analytical mathematical models to asses (1) enhancements of seepage from a canal and (2) induced flow from a partially penetrating river in an unconfined aquifer consequent to groundwater withdrawal in a well field in the vicinity of the river and canal. The nonlinear exponential relation between seepage from a canal reach and hydraulic head in the aquifer beneath the canal reach is used for quantifying seepage from the canal reach. Hantush's (1967) basic solution for water table rise due to recharge from a rectangular spreading basin in absence of pumping well is used for generating unit pulse response function coefficients for water table rise in the aquifer. Duhamel's convolution theory and method of superposition are applied to obtain water table position due to pumping and recharge from different canal reaches. Hunt's (1999) basic solution for river depletion due to constant pumping from a well in the vicinity of a partially penetrating river is used to generate unit pulse response function coefficients. Applying convolution technique and superposition, treating the recharge from canal reaches as recharge through conceptual injection wells, river depletion consequent to variable pumping and recharge is quantified. The integrated model is applied to a case study in Haridwar (India). The well field consists of 22 pumping wells located in the vicinity of a perennial river and a canal network. The river bank filtrate portion consequent to pumping is quantified. © 2014, National GroundWater Association.

  5. The failures of root canal preparation with hand ProTaper.

    Science.gov (United States)

    Bătăiosu, Marilena; Diaconu, Oana; Moraru, Iren; Dăguci, C; Tuculină, Mihaela; Dăguci, Luminiţa; Gheorghiţă, Lelia

    2012-07-01

    The failures of root canal preparation are due to some anatomical deviation (canal in "C" or "S") and some technique errors. The technique errors are usually present in canal root cleansing and shaping stage and are the result of endodontic treatment objectives deviation. Our study was made on technique errors while preparing the canal roots with hand ProTaper. Our study was made "in vitro" on 84 extracted teeth (molars, premolars, incisors and canines). The canal root of these teeth were cleansed and shaped with hand ProTaper by crown-down technique and canal irrigation with NaOCl(2,5%). The dental preparation control was made by X-ray. During canal root preparation some failures were observed like: canal root overinstrumentation, zipping and stripping phenomenon, discarded and/or fractured instruments. Hand ProTaper represents a revolutionary progress of endodontic treatment, but a deviation from accepted rules of canal root instrumentation can lead to failures of endodontic treatment.

  6. CARDIAC STRUCTURAL AND FUNCTIONAL ABNORMALITIES IN FEMALES WITH UNTREATED HYPOPITUITARISM DUE TO SHEEHAN SYNDROME: RESPONSE TO HORMONE REPLACEMENT THERAPY.

    Science.gov (United States)

    Laway, Bashir Ahmad; Ramzan, Mahroosa; Allai, Mohd Sultan; Wani, Arshad Iqbal; Misgar, Raiz Ahmad

    2016-09-01

    = postpartum hemorrhage PWd = posterior wall diameter SS = Sheehan syndrome SV = stroke volume T3 = triiodothyronine T4 = thyroxine TSH = thyroid-stimulating hormone.

  7. Metabolic syndrome as a risk factor for total hip or knee replacement due to primary osteoarthritis: a prospective cohort study (the HUNT study and the Norwegian Arthroplasty Register

    Directory of Open Access Journals (Sweden)

    Hellevik AI

    2018-01-01

    Full Text Available Alf Inge Hellevik,1,2 Marianne Bakke Johnsen,3,4 Arnulf Langhammer,1 Valborg Baste,5 Ove Furnes,6,7 Kjersti Storheim,3,4 John Anker Zwart,3,4 Gunnar Birkeland Flugsrud,2 Lars Nordsletten2,4 1The HUNT Research Centre, Department of Public Health and Nursing, Faculty of Medicine and Health Sciences, NTNU, Norwegian University of Science and Technology, Levanger, 2Division of Orthopaedic Surgery, Oslo University Hospital, Oslo, 3Research and Communication Unit for Musculoskeletal Health, Division of Clinical Neuroscience, Oslo University Hospital, Oslo, 4Faculty of Medicine, University of Oslo, Oslo, 5Uni Research Health, Bergen, 6The Norwegian Arthroplasty Register, Department of Orthopedic Surgery, Haukeland University Hospital, Bergen, 7Department of Clinical Medicine, Institute of Medicine and Dentistry, University of Bergen, Bergen, Norway Objective: Biochemical changes associated with obesity may accelerate osteoarthritis beyond the effect of mechanical factors. This study investigated whether metabolic syndrome and its components (visceral obesity, hypertension, dyslipidemia and insulin resistance were risk factors for subsequent total hip replacement (THR or total knee replacement (TKR due to primary osteoarthritis.Design: In this prospective cohort study, data from the second survey of the Nord-Trøndelag Health Study 2 (HUNT2 were linked to the Norwegian Arthroplasty Register for identification of the outcome of THR or TKR. The analyses were stratified by age (<50, 50–69.9 and ≥70 years and adjusted for gender, body mass index, smoking, physical activity and education.Results: Of the 62,661 participants, 12,593 (20.1% were identified as having metabolic syndrome, and we recorded 1,840 (2.9% THRs and 1,111 (1.8% TKRs during a mean follow-up time of 15.4 years. Cox regression analyses did not show any association between full metabolic syndrome and THR or TKR, except in persons <50 years with metabolic syndrome who had a decreased risk

  8. Comparison of retrievable stents and permanent stents for Budd-Chiari syndrome due to obstructive inferior vena cava.

    Science.gov (United States)

    Bi, Yonghua; Chen, Hongmei; Ding, Penxu; Ren, Jianzhuang; Han, Xinwei

    2018-05-30

    To compare long-term outcomes of retrievable stents and permanent stents for BCS due to long-segment obstructive IVC. Between July 2000 and August 2016, 42 patients with BCS due to long-segment obstructive IVC were treated with retrievable stents (RS) and 41 patients were treated with permanent stents (PS). The retrievable stents was removed eventually after thrombus disappeared. Patients were subsequently followed-up by color Doppler sonography or CT scanning. All retrievable stent placements were successfully, and 37 retrievable stents were retrieved 8 to 29 days later. Forty-two stents were implanted in PS Group. One failure retrieval of retrievable stents occurred, and two failures of cannulations were found in PS Group. Two deaths may procedure-related and died from acute pulmonary thromboembolism perioperatively. One patient developed acute cerebral infarction and recovered after treatment. In PS Group, minor complications were found in 3 patients. The length of IVC lesion segment, length and thickness of IVC thrombus decreased significantly, and diameter of retrocaval IVC and diaphragm IVC increased significantly in both groups. During follow up, 3 patients died from liver failure in RS Group and 2 patients died in PS Group. RS Group showed a significantly higher primary patency rate than PS Group. Cumulative 1-, 3-, and 5-year secondary patency rates were 95.2%, 89.6%, 89.6% in RS Group, and 100%, 96.6%, 96.6% in PS Group (p= 0.7109). Retrievable stents is effective for BCS due to long-segment obstructive IVC, with a higher primary patency rate. This article is protected by copyright. All rights reserved.

  9. Reversible acute axonal polyneuropathy associated with Wernicke-Korsakoff syndrome: impaired physiological nerve conduction due to thiamine deficiency?

    Science.gov (United States)

    Ishibashi, S; Yokota, T; Shiojiri, T; Matunaga, T; Tanaka, H; Nishina, K; Hirota, H; Inaba, A; Yamada, M; Kanda, T; Mizusawa, H

    2003-05-01

    Acute axonal polyneuropathy and Wernicke-Korsakoff encephalopathy developed simultaneously in three patients. Nerve conduction studies (NCS) detected markedly decreased compound muscle action potentials (CMAPs) and sensory nerve action potentials (SNAPs) with minimal conduction slowing; sympathetic skin responses (SSRs) were also notably decreased. Sural nerve biopsies showed only mild axonal degeneration with scattered myelin ovoid formation. The symptoms of neuropathy lessened within two weeks after an intravenous thiamine infusion. CMAPs, SNAPs, and SSRs also increased considerably. We suggest that this is a new type of peripheral nerve impairment: physiological conduction failure with minimal conduction delay due to thiamine deficiency.

  10. The osseous external auditory canal : Surgery, shape, and sound

    NARCIS (Netherlands)

    van Spronsen, E.

    2018-01-01

    This thesis describes three aspects of the osseous external auditory canal (OEAC) which are related to each other: Surgery of the OEAC, the shape of the OEAC and the perceived sound quality due to the resonance function of the OEAC. Several aspects of the surgical intervention (Canalplasty) in

  11. Unpredictable Root Canal Morphology: Expect the Unexpected

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    Sohez J Makani

    2015-01-01

    Full Text Available Background: A maxillary first molar with more than four canals is an interesting example of anatomic variations, especially when two of these canals are detected, with separate apical foramen in the distal root. The inability to locate the unexpected canals of various anatomical configuration and subsequently treat them , may lead to therapeutic failures. Endodontic retreatment is usually the modality of choice in such cases. This report describes a case of a maxillary first molar with five canals (two mesial canals in mesial root, two distal canals in two distal roots and a palatal canal in palatal root. Additionally it shows a rare anatomic configuration and emphasizes the importance of identifying additional canals.

  12. Magnetic resonance tomography of the vertebral column and spinal canal

    International Nuclear Information System (INIS)

    Uhlenbrock, D.; Brueckmann, H.; Bunke, J.; Giesecke, J.; Heinzerling, J.; Kunze, V.; Mirvis, S.E.; Weidner, A.; Wolf, A.L.

    1992-01-01

    In addition to all the aspects pertinent to diagnostic procedures in the vertebral column and spinal canal this pocket book provides complete coverage of congenital and acquired disorders in the fields of orthopedics, neurology and neurosurgery - including malformations of the spinal canal, degenerative vertebral diseases, tumours, inflammatory changes and vascular diseases, to mention only a few. The authors discuss the question of how image qualities can be influenced and the most information obtained from the different pulse sequences. They outline future development trends and give advice on the reduction of artefacts. The principles that must be adhered to in surgical intervention and nmr imaging for the post-operative assessment of vertebral disk syndromes and tumours are just as important an issue here as is the information the surgeon expects to obtain through diagnostic nmr imaging and the recommendations to be given by the radiologist. (orig.) With 265 figs [de

  13. Fatal case of hemolytic-uremic syndrome in an adult due to a rare serogroup O91 Entero hemorrhagic Escherichia coli associated with a Clostridium difficile infection. More than meets the eye

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    Thomas Guillard

    2015-08-01

    Full Text Available Hemolytic-uremic syndrome due to enterohemorrhagic Escherichia coli, belonging to serogroup O91 has rarely been described. We report here a case of post-diarrheal HUS due to EHEC O91 in an elderly patient for whom diagnosis was delayed given a previously diagnosed C. difficile infection. This case highlights the usefulness of Shiga-toxin detection.

  14. Narrow duplicated internal auditory canal: radiological findings and review of the literature

    International Nuclear Information System (INIS)

    Demir, Oezguen Ilhan; Cakmakci, Handan; Men, Sueleyman; Erdag, Taner Kemal

    2005-01-01

    Narrow duplicated internal auditory canal (IAC) is a rare malformation of the temporal bone that is associated with ipsilateral congenital sensorineural hearing loss. This may be an isolated finding or a part of a syndrome. Radiological examination should demonstrate aplasia or hypoplasia of the neural components of the narrow IAC, to guide the surgical approach. We report a 7-year-old boy with Klippel-Feil syndrome with a narrow double IAC with no sensorineural hearing loss but with conductive hearing loss. In this patient, the IAC consisted of two separate narrow bony canals clearly seen on 3D temporal bone CT and one nerve that was delineated on MRI. The contralateral external auditory canal was stenotic and the ossicles were dysplastic. (orig.)

  15. Semicircular canal dehiscence: comparison of T2-weighted turbo spin-echo MRI and CT

    International Nuclear Information System (INIS)

    Krombach, G.A.; Schmitz-Rode, T.; Haage, P.; Guenther, R.W.; DiMartino, E.; Prescher, A.; Kinzel, S.

    2004-01-01

    We assessed the value of MRI for delineation of dehiscence of the superior or posterior semicircular canal, as compared with CT, the current standard study for this entity. We reviewed heavily T2-weighted fast spin-echo images and high-resolution CT of the temporal bones of 185 patients independently semicircular canal dehiscence and its extent. In 30 patients (19 men, 11 women) we identified dehiscence of the bone over the superior and/or posterior semicircular canal on MRI. In 27 of these cases CT also showed circumscribed bone defects. In one patient dehiscence of the superior semicircular canal was initially overlooked on MRI, but seen on CT. MRI imaging thus had a sensitivity of 96% and specificity of 98%. Knowledge of the appearances of this entity on MRI may contribute to early diagnosis in patients with vertigo due to semicircular canal dehiscence. (orig.)

  16. Semicircular canal dehiscence: comparison of T2-weighted turbo spin-echo MRI and CT

    Energy Technology Data Exchange (ETDEWEB)

    Krombach, G.A.; Schmitz-Rode, T.; Haage, P.; Guenther, R.W. [Department of Diagnostic Radiology, University of Technology, Pauwelstrasse 30, 52057, Aachen (Germany); DiMartino, E. [Department of Otorhinolaryngology, University of Technology, Pauwelstrasse 30, 52057, Aachen (Germany); Prescher, A. [Department of Anatomy, University of Technology, Pauwelstrasse 30, 52057, Aachen (Germany); Kinzel, S. [Department of Experimental Veterinary Medicine, University of Technology, Pauwelstrasse 30, 52057, Aachen (Germany)

    2004-04-01

    We assessed the value of MRI for delineation of dehiscence of the superior or posterior semicircular canal, as compared with CT, the current standard study for this entity. We reviewed heavily T2-weighted fast spin-echo images and high-resolution CT of the temporal bones of 185 patients independently semicircular canal dehiscence and its extent. In 30 patients (19 men, 11 women) we identified dehiscence of the bone over the superior and/or posterior semicircular canal on MRI. In 27 of these cases CT also showed circumscribed bone defects. In one patient dehiscence of the superior semicircular canal was initially overlooked on MRI, but seen on CT. MRI imaging thus had a sensitivity of 96% and specificity of 98%. Knowledge of the appearances of this entity on MRI may contribute to early diagnosis in patients with vertigo due to semicircular canal dehiscence. (orig.)

  17. Personalized Stem Cell Therapy to Correct Corneal Defects Due to a Unique Homozygous-Heterozygous Mosaicism of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome.

    Science.gov (United States)

    Barbaro, Vanessa; Nasti, Annamaria Assunta; Raffa, Paolo; Migliorati, Angelo; Nespeca, Patrizia; Ferrari, Stefano; Palumbo, Elisa; Bertolin, Marina; Breda, Claudia; Miceli, Francesco; Russo, Antonella; Caenazzo, Luciana; Ponzin, Diego; Palù, Giorgio; Parolin, Cristina; Di Iorio, Enzo

    2016-08-01

    : Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome is a rare autosomal dominant disease caused by mutations in the p63 gene. To date, approximately 40 different p63 mutations have been identified, all heterozygous. No definitive treatments are available to counteract and resolve the progressive corneal degeneration due to a premature aging of limbal epithelial stem cells. Here, we describe a unique case of a young female patient, aged 18 years, with EEC and corneal dysfunction, who was, surprisingly, homozygous for a novel and de novo R311K missense mutation in the p63 gene. A detailed analysis of the degree of somatic mosaicism in leukocytes from peripheral blood and oral mucosal epithelial stem cells (OMESCs) from biopsies of buccal mucosa showed that approximately 80% were homozygous mutant cells and 20% were heterozygous. Cytogenetic and molecular analyses excluded genomic alterations, thus suggesting a de novo mutation followed by an allelic gene conversion of the wild-type allele by de novo mutant allele as a possible mechanism to explain the homozygous condition. R311K-p63 OMESCs were expanded in vitro and heterozygous holoclones selected following clonal analysis. These R311K-p63 OMESCs were able to generate well-organized and stratified epithelia in vitro, resembling the features of healthy tissues. This study supports the rationale for the development of cultured autologous oral mucosal epithelial stem cell sheets obtained by selected heterozygous R311K-p63 stem cells, as an effective and personalized therapy for reconstructing the ocular surface of this unique case of EEC syndrome, thus bypassing gene therapy approaches. This case demonstrates that in a somatic mosaicism context, a novel homozygous mutation in the p63 gene can arise as a consequence of an allelic gene conversion event, subsequent to a de novo mutation. The heterozygous mutant R311K-p63 stem cells can be isolated by means of clonal analysis and given their good regenerative

  18. Oocyte cryopreservation for fertility preservation in postpubertal female children at risk for premature ovarian failure due to accelerated follicle loss in Turner syndrome or cancer treatments.

    Science.gov (United States)

    Oktay, K; Bedoschi, G

    2014-12-01

    To preliminarily study the feasibility of oocyte cryopreservation in postpubertal girls aged between 13 and 15 years who were at risk for premature ovarian failure due to the accelerated follicle loss associated with Turner syndrome or cancer treatments. Retrospective cohort and review of literature. Academic fertility preservation unit. Three girls diagnosed with Turner syndrome, 1 girl diagnosed with germ-cell tumor. and 1 girl diagnosed with lymphoblastic leukemia. Assessment of ovarian reserve, ovarian stimulation, oocyte retrieval, in vitro maturation, and mature oocyte cryopreservation. Response to ovarian stimulation, number of mature oocytes cryopreserved and complications, if any. Mean anti-müllerian hormone, baseline follical stimulating hormone, estradiol, and antral follicle counts were 1.30 ± 0.39, 6.08 ± 2.63, 41.39 ± 24.68, 8.0 ± 3.2; respectively. In Turner girls the ovarian reserve assessment indicated already diminished ovarian reserve. Ovarian stimulation and oocyte cryopreservation was successfully performed in all female children referred for fertility preservation. A range of 4-11 mature oocytes (mean 8.1 ± 3.4) was cryopreserved without any complications. All girls tolerated the procedure well. Oocyte cryopreservation is a feasible technique in selected female children at risk for premature ovarian failure. Further studies would be beneficial to test the success of oocyte cryopreservation in young girls. Copyright © 2014 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  19. Study of polluted water mixing on sediment of Lahore canal

    International Nuclear Information System (INIS)

    Asim, M.

    2016-01-01

    People living in societies along the canals which pass through the urban areas, are adding domestic and industrial waste water and wastes into them like Lahore canal. This untreated industrial and municipal waste and contaminated water may become a risk to irrigation water quality and sediment moving in it in the form of suspended load. The results disclose that as suspended sediment concentration increases the pH value drops. Consequently it can be established from results that they are inversely related to each other but this behaviour is generally due to effect of rain water runoff. The suspended sediment content was at its highest during monsoon season. Similarly pH values varied considerably from limit of 6.5-8.4. Other water quality chemical parameters did not stray from their recommended limits. The dumping of waste water from pipes did not have any major effect on the water quality of the canal due to its less percentage to the total canal discharge. (author)

  20. Central Lesions With Selective Semicircular Canal Involvement Mimicking Bilateral Vestibulopathy

    Directory of Open Access Journals (Sweden)

    Luke Chen

    2018-04-01

    Full Text Available Bilateral vestibulopathy (BVP, which is due to peripheral lesions, may selectively involve certain semicircular canal (SCC. Recent eye movement recordings with search coil and video head impulse test (HIT have provided insight in central lesions that can cause bilateral and selective SCC deficit mimicking BVP. Since neurological signs or ocular motor deficits maybe subtle or absent, it is critical to recognize central lesions correctly since there is prognostic and treatment implication. Acute floccular lesions cause bilateral horizontal SCC (HC impairment while leaving vertical SCC function unaffected. Vestibular nuclear lesions affect bilateral HC and posterior SCC (PC function, but anterior SCC (AC function is spared. When both eyes are recorded, medial longitudinal fasciculus lesions cause horizontal dysconjugacy in HC function and catch-up saccades, as well as selective deficiency of PC over AC function. Combined peripheral and central lesions may be difficult to distinguish from BVP. Anterior inferior cerebellar artery stroke causes two types of deficits: 1. ipsilateral pan-SCC deficits and contralateral HC deficit and 2. bilateral HC deficit with vertical SCC sparing. Metabolic disorders such as Wernicke encephalopathy characteristically involve HC but not AC or PC function. Gaucher disease causes uniform loss of all SCC function but with minimal horizontal catch-up saccades. Genetic cerebellar ataxias and cerebellar-ataxia neuropathy vestibular areflexia syndrome typically do not spare AC function. While video HIT does not replace the gold-standard, search coil HIT, clinicians are now able to rapidly and accurately identify specific pattern of SCC deficits, which can aid differentiation of central lesions from BVP.

  1. Hearing loss and enlarged internal auditory canal in children.

    Science.gov (United States)

    Santos, Saturnino; Domínguez, M Jesús; Cervera, Javier; Suárez, Alicia; Bueno, Antonio; Bartolomé, Margarita; López, Rafael

    2014-01-01

    Among the temporal bone abnormalities that can be found in the etiological study of paediatric sensorineural hearing loss (SNHL) by imaging techniques, those related to the internal auditory canal (IAC) are the least frequent. The most prevalent of these abnormalities that is associated with SNHL is stenotic IAC due to its association with cochlear nerve deficiencies. Less frequent and less concomitant with SNHL is the finding of an enlarged IAC (>8mm). Retrospective and descriptive review of clinical associations, imaging, audiological patterns and treatment of 9 children with hearing loss and enlarged IAC in the period 1999 to 2012. Two groups of patients are described. The first, without association with vestibulocochlear dysplasias, consisted of: 2 patients with SNHL without other temporal bone or systemic abnormalities, one with bilateral mixed HL from chromosome 18q deletion, one with a genetic X-linked DFN3 hearing loss, one with unilateral hearing loss in neurofibromatosis type 2 with bilateral acoustic neuroma, and one with unilateral hearing loss with cochlear nerve deficiency. The second group, with association with vestibulocochlear dysplasias, was comprised of: one patient with moderate bilateral mixed hearing loss in branchio-oto-renal syndrome, one with profound unilateral SNHL with recurrent meningitis, and another with profound bilateral SNHL with congenital hypothyroidism. The presence of an enlarged IAC in children can be found in different clinical and audiological settings with relevancies that can range from life-threatening situations, such as recurrent meningitis, to isolated hearing loss with no other associations. Copyright © 2013 Elsevier España, S.L. All rights reserved.

  2. Retreatment of a mandibular second premolar with two canals in two roots

    Directory of Open Access Journals (Sweden)

    Chiara Fossati

    2018-06-01

    Full Text Available Aim: To present a case of retreatment in mandibular second premolar with two canals in two roots. Summary: Locating, cleaning and shaping the entire root canal system may represent a difficult challenge particularly in mandibular premolars, because of their complex canal systems.For this reason mandibular premolars are often considered the most difficult of all teeth on which to perform successful endodontic treatment. Vertucci stated that the second premolar has one root canal at the apex in 97.5% of the teeth studied and two canals in only 2.5%.1 The following case report describes the diagnosis and retreatment of a second premolar with two canal in two roots.Key learning points: (1 The major cause of failure in root canal therapy is the inability to localize and treat all of the canals of the root canal system. (2 Mandibular premolars have complex canal systems. (3 Mandibular premolars have a high risk of missed anatomy. (4 Preoperative radiograph interpretation is essential to evaluate and detect uncommon anatomies. (5 The operating microscope and CBCT interpretation are fundamental in confirming and preventing mistakes about the configuration of mandibular premolars. Riassunto: Obiettivi: Presentare un caso clinico di ritrattamento canalare di un secondo premolare mandibolare con due canali e due radici. Riassunto: Individuare, sagomare, detergere l’intero sistema radicolare presenta una sfida difficile in ambito endodontico e in particolar modo nei premolari mandibolari per il loro complesso sistema canalare. I premolari mandibolari sono spesso considerati i denti più difficili in cui effettuare una terapia endodontica.Vertucci riscontrò che i secondi premolari mandibolari hanno una radice e un canale nel 97.5% e due canali in solo il 2.5%.1Il case report seguente descrive la diagnosi e il ritrattamento di un secondo premolare con due canali in due radici.Punti chiave di apprendimento: 1. La maggior causa di fallimento endodontico

  3. Retention of Root Canal Posts

    DEFF Research Database (Denmark)

    Sahafi, A; Benetti, Ana Raquel; Flury, S

    2015-01-01

    The aim of this study was to investigate the effect of the cement film thickness of a zinc phosphate or a resin cement on retention of untreated and pretreated root canal posts. Prefabricated zirconia posts (CosmoPost: 1.4 mm) and two types of luting cements (a zinc phosphate cement [DeTrey Zinc...... received tribochemical silicate coating according to the manufacturer's instructions. Posts were then luted in the prepared root canals (n=30 per group). Following water storage at 37°C for seven days, retention of the posts was determined by the pull-out method. Irrespective of the luting cement......, pretreatment with tribochemical silicate coating significantly increased retention of the posts. Increased cement film thickness resulted in decreased retention of untreated posts and of pretreated posts luted with zinc phosphate cement. Increased cement film thickness had no influence on retention...

  4. Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro)

    DEFF Research Database (Denmark)

    Yuca, Sevil Ari; Rendtorff, Nanna Dahl; Boulahbel, Houda

    2012-01-01

    Wolfram syndrome, also named "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is an inherited association of juvenile-onset diabetes mellitus and optic atrophy as key diagnostic criteria. Renal tract abnormalities and neurodegenerative disorder may occur in the third...... and fourth decade. The wolframin gene, WFS1, associated with this syndrome, is located on chromosome 4p16.1. Many mutations have been described since the identification of WFS1 as the cause of Wolfram syndrome. We identified a new homozygous WFS1 mutation (c.1532T>C; p.Leu511Pro) causing Wolfram syndrome...

  5. Early Squamous Cell Carcinoma of the Anal Canal Resected by Endoscopic Submucosal Dissection

    Directory of Open Access Journals (Sweden)

    Yuzuru Tamaru

    2015-04-01

    Full Text Available The standard treatment approach for squamous cell carcinoma (SCC of the anal canal includes abdominoperineal resection and chemoradiotherapy. However, there are currently very few reports of early SCC of the anal canal resected by endoscopic submucosal dissection (ESD. We report 2 rare cases of SCC of the anal canal resected by ESD. In case 1, a 66-year-old woman underwent a colonoscopy due to blood in her stool, and an elevated lesion, 15 mm in size, was identified from the rectum to the dentate line of the anal canal on internal hemorrhoids. The lesion was diagnosed as an early SCC of the anal canal, and ESD was successfully performed. The histopathological diagnosis was SCC in situ. In case 2, a 71-year-old woman underwent a colonoscopy due to constipation, and an elevated lesion, 25 mm in size, was identified from the dentate line to the anal canal. The lesion was diagnosed as early-stage SCC of the anal canal, and ESD was successfully performed. The histopathological diagnosis was SCC in situ. No complications or recurrence after ESD occurred in either case.

  6. Seismically observed seiching in the Panama Canal

    Science.gov (United States)

    McNamara, D.E.; Ringler, A.T.; Hutt, C.R.; Gee, L.S.

    2011-01-01

    A large portion of the seismic noise spectrum is dominated by water wave energy coupled into the solid Earth. Distinct mechanisms of water wave induced ground motions are distinguished by their spectral content. For example, cultural noise is generally Panama Canal there is an additional source of long-period noise generated by standing water waves, seiches, induced by disturbances such as passing ships and wind pressure. We compare seismic waveforms to water level records and relate these observations to changes in local tilt and gravity due to an oscillating seiche. The methods and observations discussed in this paper provide a first step toward quantifying the impact of water inundation as recorded by seismometers. This type of quantified understanding of water inundation will help in future estimates of similar phenomena such as the seismic observations of tsunami impact. Copyright 2011 by the American Geophysical Union.

  7. Huge bilateral ovarian cysts in adulthood as the presenting feature of Van Wyk Grumbach syndrome due to chronic uncontrolled juvenile hypothyroidism

    Directory of Open Access Journals (Sweden)

    K S Shivaprasad

    2013-01-01

    Full Text Available Juvenile primary hypothyroidism causing cystic ovaries and pseudoprecocious puberty (Van-Wyk Grumbach syndrome (VWGS is well documented in literature. There are only a few reports of primary hypothyroidism presenting as ovarian cysts in adults. Here we present a case of huge bilateral ovarian cysts in adulthood as the presenting feature of VWGS due to chronic uncontrolled juvenile hypothyroidism. Large uniloculor right ovarian cyst (119 × 81 × 90 mm and a multicystic left ovary (55 × 45 × 49 mm were detected in a 24 year lady with secondary amenorrhea, galactorrhea, and palpable abdominal mass with history of neonatal jaundice, delayed milestones, short stature, and precocious menarche at age of 7.5 years age. She had elevated levels of cancer antigen (CA-125 which normalized post levothyroxine supplementation. Elevated CA-125 may lead to misdiagnosis of ovarian carcinoma and inadvertent treatment. Bilateral ovarian cysts in adults are a rare presentation of juvenile hypothyroidism. It is necessary to screen for primary hypothyroidism in patients presenting with bilateral ovarian cysts to prevent unnecessary evaluation and treatment.

  8. Imaging mass spectrometry visualizes ceramides and the pathogenesis of dorfman-chanarin syndrome due to ceramide metabolic abnormality in the skin.

    Directory of Open Access Journals (Sweden)

    Naoko Goto-Inoue

    Full Text Available Imaging mass spectrometry (IMS is a useful cutting edge technology used to investigate the distribution of biomolecules such as drugs and metabolites, as well as to identify molecular species in tissues and cells without labeling. To protect against excess water loss that is essential for survival in a terrestrial environment, mammalian skin possesses a competent permeability barrier in the stratum corneum (SC, the outermost layer of the epidermis. The key lipids constituting this barrier in the SC are the ceramides (Cers comprising of a heterogeneous molecular species. Alterations in Cer composition have been reported in several skin diseases that display abnormalities in the epidermal permeability barrier function. Not only the amounts of different Cers, but also their localizations are critical for the barrier function. We have employed our new imaging system, capable of high-lateral-resolution IMS with an atmospheric-pressure ionization source, to directly visualize the distribution of Cers. Moreover, we show an ichthyotic disease pathogenesis due to abnormal Cer metabolism in Dorfman-Chanarin syndrome, a neutral lipid storage disorder with ichthyosis in human skin, demonstrating that IMS is a novel diagnostic approach for assessing lipid abnormalities in clinical setting, as well as for investigating physiological roles of lipids in cells/tissues.

  9. A Case of Cushing’s Syndrome due to Ectopic Adrenocorticotropic Hormone Secretion from Esthesioneuroblastoma with Long Term Follow-Up after Resection

    Directory of Open Access Journals (Sweden)

    Leslee N. Matheny

    2018-01-01

    Full Text Available We present a case of a 52-year-old male who developed Cushing’s Syndrome due to ectopic adrenocorticotrophic hormone (ACTH secretion from a large esthesioneuroblastoma (ENB of the nasal sinuses. The patient initially presented with polyuria, polydipsia, weakness, and confusion. Computed tomography scan of the head and magnetic resonance imaging showed a 7 cm skull base mass centered in the right cribriform plate without sella involvement. Work-up revealed ACTH-dependent hypercortisolemia, which did not suppress appropriately after high-dose dexamethasone. Subsequent imaging of the chest, abdomen, and pelvis did not reveal other possible ectopic sources of ACTH secretion besides the ENB. His hospital course was complicated by severe hypokalemia and hyperglycemia before successful surgical resection of the tumor, the biopsy of which showed ENB. Postoperatively, his ACTH level dropped below the limit of detection. In the ensuing 4 months, he underwent adjuvant chemoradiation with carboplatin and docetaxel with good response and resolution of hypokalemia and hyperglycemia, with no sign of recurrence as of 30 months postoperatively. His endogenous cortisol production is rising but has not completely recovered.

  10. DRG Spinal Cord Stimulation as Solution for Patients With Severe Pain Due to Anterior Cutaneous Nerve Entrapment Syndrome: A Case Series.

    Science.gov (United States)

    Mol, Frédérique Mathilde Ulrike; Roumen, Rudi M H

    2018-04-01

    Anterior Cutaneous Nerve Entrapment Syndrome (ACNES) is a debilitating neuropathic pain condition. A small portion of patients do not respond to any currently available treatment modalities. These patients, often young women, might benefit from targeted spinal cord stimulation of the dorsal root ganglion (DRG). This retrospective case series describes five ACNES patients who were referred from a Dutch dedicated tertiary referral center to collaborating sites with extensive experience in DRG stimulation to be implanted with a DRG Axium System (St. Jude/Abbott, IL, USA) in the period of 2013-2016. Numeric pain rating scores at routine 6- and 12-month follow-up visits were analyzed. Three patients experienced >50% pain reduction at 12 months follow-up. Four patients experienced device-related complications, such as lead dislocation, lead breakage, pain at the battery site, and overstimulation. This case series suggests DRG spinal cord stimulation can be safe and effective for some patients with persistent pain due to ACNES. © 2017 International Neuromodulation Society.

  11. 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

    2012-07-01

    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.

  12. Hydrocele of the canal of Nuck

    Directory of Open Access Journals (Sweden)

    Nourah ALSaleh

    2018-02-01

    Full Text Available Hydrocele of the canal of Nuck is a rare condition in female children caused by a failure of complete obliteration of the canal of Nuck. The canal of Nuck is an abnormal patent pouch of the peritoneum extending anterior to the round ligament of the uterus into the labia majora. Incomplete obliteration of this canal (patent processus vaginalis can result in either an inguinal hernia or a hydrocele. Here, we report two cases of hydrocele of the canal of Nuck presented within a two-month period. In the first case, incarcerated right-sided inguinal hernia was suspected while the second case was clinically diagnosed as encysted hydrocele of canal of Nuck. Both patients underwent surgical exploration. Hydrocelectomy with high ligation was also performed. One month after the surgery, the first patient showed signs of hydrocele on contralateral side, while the other patient showed no sign of contralateral hydrocele or hernia.

  13. Hyperinsulinaemic hypoglycaemia in Beckwith-Wiedemann syndrome (BWS) due to defects in the function of pancreatic ß-cell ATP-sensitive K+ channels

    DEFF Research Database (Denmark)

    Hussain, K; Cosgrove, K E; Shepherd, R M

    2005-01-01

    Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome that is clinically and genetically heterogeneous. Hyperinsulinemic hypoglycemia occurs in about 50% of children with BWS and, in the majority of infants, it resolves spontaneously. However, in a small group of patients...... the hypoglycemia can be persistent and may require pancreatectomy. The mechanism of persistent hyperinsulinemic hypoglycemia in this group of patients is unclear....

  14. Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe

    Directory of Open Access Journals (Sweden)

    Josef Finsterer

    2016-09-01

    Conclusion: Phenotypic manifestations of Carvajal syndrome are even broader than so far anticipated, the number of mutations in the desmoplakin gene responsible for Carvajal syndrome is still increasing, and these patients require implantation of an ICD as soon as their diagnosis is established.

  15. Methotrexate-induced side effects are not due to differences in pharmacokinetics in children with Down syndrome and acute lymphoblastic leukemia

    NARCIS (Netherlands)

    Buitenkamp, Trudy D.; Mathôt, Ron A. A.; de Haas, Valerie; Pieters, Rob; Zwaan, C. Michel

    2010-01-01

    Children with Down syndrome have an increased risk of developing acute lymphoblastic leukemia and a poor tolerance of methotrexate. This latter problem is assumed to be caused by a higher cellular sensitivity of tissues in children with Down syndrome. However, whether differences in pharmacokinetics

  16. Stability of guest molecules in urea canal complexes by canal polymerization

    International Nuclear Information System (INIS)

    Yoshii, Fumio; Makuuchi, Keizo

    1995-01-01

    It was found that various organic materials are attracted into urea canal by hexanediol diacrylate (HDDA) and long chain compounds. This means that materials which does not form complex by itself are induced in canal by HDDA and long chain compounds. To include with stability perfumes, insecticides, attractants and repellents in urea canal, leaf alcohol was used as a model compound for guest molecules in the canal. The leaf alcohol from the canal released gradually over many days and the release was inhibited for 15 days by long chain compounds and for 30 days by polymerized HDDA after irradiation. After releasing, the leaf alcohol in the canal remained 25 % stable for long chain compounds and 40 % for polymerized HDDA. The dose required for stabilization of leaf alcohol in the urea canal by canal polymerization of HDDA was 30 kGy. (author)

  17. Computed tomography of the facial canal

    International Nuclear Information System (INIS)

    Kiuchi, Sousuke

    1983-01-01

    The radiological details of the facial canal was investigated by computed tomography. In the first part of this study, dry skulls were used to delineate the full course of the facial canal by computed tomography. In the second part of this study, the patients with chronic otitis media and secondary cholesteatoma were evaluated. The labyrinthine and tympanic parts of the canal were well demonstrated with the axial scanning, and the mastoid part with the coronal scanning. Moreover, computed tomography showed excellent delineation of the middle ear contents. In patients with secondary cholesteatoma, the destructions of the intratympanic course of the bony facial canal were also assessed preoperatively. (author)

  18. Patients with Long QT Syndrome Due to Impaired hERG-encoded Kv11.1 Potassium Channel Have Exaggerated Endocrine Pancreatic and Incretin Function Associated with Reactive Hypoglycemia

    DEFF Research Database (Denmark)

    Hyltén-Cavallius, Louise; Iepsen, Eva W; Wewer Albrechtsen, Nicolai J

    2017-01-01

    Background -Loss-of-function mutations in hERG (encoding the Kv11.1 voltage-gated potassium channel) cause long QT syndrome (LQT2) due to prolonged cardiac repolarization. However, Kv11.1 is also present in pancreatic α and β cells and intestinal L and K cells, secreting glucagon, insulin, and th...

  19. Intussusception due to Peutz-Jeghers syndrome - a case report and review of the literature; Sindrome de Peutz-Jeghers e intussuscepcao - relato de um caso e revisao da literatura

    Energy Technology Data Exchange (ETDEWEB)

    Grasso Filho, Luiz Eduardo; Albertotti, Flavio; Carvalho, Claudio Sobral de; Nersessian, Ana Carolina; Docema, Marcos F. Lima; Ogasawara, Aparecida M.; Peng Yong Sheng [Hospital Sirio Libanes, Sao Paulo, SP (Brazil). Centro de Diagnostico por Imagem; Costacurta, Marco Antonio [Hospital Sirio Libanes, Sao Paulo, SP (Brazil). Servico de Radiologia Geral; Albertotti, Cesar Jose [Hospital Sirio Libanes, Sao Paulo, SP (Brazil). Servico de Tomografia Computadorizada; Cerri, Giovanni Guido [Hospital Sirio Libanes, Sao Paulo, SP (Brazil). Servico de Ultra-Som

    2000-02-01

    The authors report a case of a 28-year-old woman with ileocecocolic intussusception due to Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by hamartomatous polyposis of the gastrointestinal tract and mucocutaneous pigmentation. This condition frequently presents complications such as intestinal obstruction due to invagination or hemorrhage. In this patient, the diagnosis of intussusception was made preoperatively. The excised material revealed three large polyps which were considered to be the cause of the intussusception. (author)

  20. Endodontic treatment of a C-shaped mandibular second premolar with four root canals and three apical foramina: a case report

    Directory of Open Access Journals (Sweden)

    Thikamphaa Bertrand

    2016-02-01

    Full Text Available This case report describes a unique C-shaped mandibular second premolar with four canals and three apical foramina and its endodontic management with the aid of cone-beam computer tomography (CBCT. C-shaped root canal morphology with four canals was identified under a dental operating microscope. A CBCT scan was taken to evaluate the aberrant root canal anatomy and devise a better instrumentation strategy based on the anatomy. All canals were instrumented to have a 0.05 taper using 1.0 mm step-back filing with appropriate apical sizes determined from the CBCT scan images and filled using a warm vertical compaction technique. A C-shaped mandibular second premolar with multiple canals is an anatomically rare case for clinicians, yet its endodontic treatment may require a careful instrumentation strategy due to the difficulty in disinfecting the canals in the thin root area without compromising the root structure.

  1. Application of microcomputed tomography for quantitative analysis of dental root canal obturations

    Directory of Open Access Journals (Sweden)

    Anna Kierklo

    2014-03-01

    Full Text Available Introduction: The aim of the study was to apply microcomputed tomography to quantitative evaluation of voids and to test any specific location of voids in tooth’s root canal obturations. Materials and Methods: Twenty root canals were prepared and obturated with gutta-percha and Tubli-Seal sealer using the thermoplastic compaction method (System B + Obtura II. Roots were scanned and three-dimensional visualization was obtained. The volume and Feret’s diameter of I-voids (at the filling/dentine interface and S-voids (surrounded by filling material were measured.Results: The results revealed that none of the scanned root canal fillings were void-free. For I-voids, the volume fraction was significantly larger, but their number was lower (P = 0.0007, than for S-voids. Both types of voids occurred in characteristic regions (P < 0.001. I-voids occurred mainly in the apical third, while S-voids in the coronal third of the canal filling.Conclusions: Within the limitations of this study, our results indicate that microtomography, with proposed semi-automatic algorithm, is a useful tools for three-dimensional quantitative evaluation of dental root canal fillings. In canals filled with thermoplastic gutta-percha and Tubli-Seal, voids at the interface between the filling and canal dentine deserve special attention due to of their periapical location, which might promote apical microleakage. Further studies might help to elucidate the clinical relevance of these results.

  2. The Use of Lasers in Disinfection and Cleaning of Root Canals: a Review

    Directory of Open Access Journals (Sweden)

    Ivica Anić

    2014-01-01

    Full Text Available The outcome of root canal treatment is based on efficient disinfection of the root canal system and prevention of reinfection. Current chemomechanical cleaning methods do not always achieve these goals, and insufficient root canal disinfection is the main reason for endodontic failure. Due to high energy content and specific characteristics of laser light, laser treatment has been proposed for cleaning and disinfecting the root canal system. This paper reviews the literature covering the effect of Er:YAG, Er,Cr:YSGG, Nd:YAG and diode laser on the root canal wall in the removal of smear layer and against intracanal bacteria. Recently, the use of laser energy to induce cavitation and acoustic streaming of intracanal irrigants has been investigated. Based on recent literature, it can be concluded that lasers have bactericidal effects. However, they still cannot replace sodium hypochlorite and should be considered as an adjunct to the current chemical root canal disinfection protocols. Certain lasers can help in removing the smear layer and debris and can modify the morphology of the root canal wall. Unfortunately, there have not been enough randomized clinical studies evaluating endodontic treatment outcome following the use of laser.

  3. Narrow, duplicated internal auditory canal

    Energy Technology Data Exchange (ETDEWEB)

    Ferreira, T. [Servico de Neurorradiologia, Hospital Garcia de Orta, Avenida Torrado da Silva, 2801-951, Almada (Portugal); Shayestehfar, B. [Department of Radiology, UCLA Oliveview School of Medicine, Los Angeles, California (United States); Lufkin, R. [Department of Radiology, UCLA School of Medicine, Los Angeles, California (United States)

    2003-05-01

    A narrow internal auditory canal (IAC) constitutes a relative contraindication to cochlear implantation because it is associated with aplasia or hypoplasia of the vestibulocochlear nerve or its cochlear branch. We report an unusual case of a narrow, duplicated IAC, divided by a bony septum into a superior relatively large portion and an inferior stenotic portion, in which we could identify only the facial nerve. This case adds support to the association between a narrow IAC and aplasia or hypoplasia of the vestibulocochlear nerve. The normal facial nerve argues against the hypothesis that the narrow IAC is the result of a primary bony defect which inhibits the growth of the vestibulocochlear nerve. (orig.)

  4. Risk assessment of medically assisted reproduction and advanced maternal ages in the development of Prader-Willi syndrome due to UPD(15)mat.

    Science.gov (United States)

    Matsubara, K; Murakami, N; Fukami, M; Kagami, M; Nagai, T; Ogata, T

    2016-05-01

    Recent studies have suggested that disomic oocyte-mediated uniparental disomy 15 (UPD(15)mat) is increased in patients with Prader-Willi syndrome (PWS) born after medically assisted reproduction (MAR). However, it remains unknown whether the increase is primarily due to MAR procedure itself or advanced maternal childbearing ages as a predisposing factor for the disomic oocyte production. To examine this matter, we studied 122 naturally conceived PWS patients (PWS-NC group) and 13 MAR-conceived patients (PWS-MAR group). The relative frequency of disomic oocyte-mediated UPD(15)mat was significantly higher in PWS-MAR group than in PWS-NC group (7/13 vs 20/122, p = 0.0045), and the maternal childbearing ages were significantly higher in PWS-MAR group than in PWS-NC group [median (range), 38 (26-45) vs 30 (19-42), p = 0.0015]. However, the logistic regression analysis revealed no significant association between the occurrence of disomic oocyte-mediated UPD(15)mat and MAR, after adjusting for childbearing age (p = 0.25). Consistent with this, while the frequency of assisted reproductive technology (ART)-conceived livebirths was higher in the PWS patients than in the Japanese general population (6.4% vs 1.1%, p = 0.00018), the distribution of childbearing ages was significantly skewed to the increased ages in the PWS patients (p < 2.2 × 10(-16) ). These results argue against a positive association of MAR procedure itself with the development of UPD(15)mat. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  5. Some History and Hydrology of the Panama Canal

    National Research Council Canada - National Science Library

    Pabst, Arthur

    2000-01-01

    At the request of the Panama Canal Commission (now Panama Canal Authority), the Hydrologic Engineering Center participated in the development of a model to simulate the existing operation of the Panama Canal System...

  6. About ecological aspects of "Eurasia" canal construction

    Directory of Open Access Journals (Sweden)

    G. M. Abdurakhmanov

    2010-01-01

    Full Text Available Ecological aspects of "Eurasia" canal construction are considered here. The fact that can negatively affect natural area preservation (preserves, reserves, located in Kumo-Manych depression, along where the canal construction will take place, is shown in this article.

  7. [Upper lateral incisor with 2 canals].

    Science.gov (United States)

    Fabra Campos, H

    1991-01-01

    Clinical case summary of the patient with an upper lateral incisor with two root canals. The suspicion that there might be an anatomic anomaly in the root that includes a complex root canal system was made when an advanced radicular groove was detected in the lingual surface or an excessively enlarged cingulum.

  8. Neuronal hyperplasia in the anal canal

    DEFF Research Database (Denmark)

    Fenger, C; Schrøder, H D

    1990-01-01

    In a consecutive series of minor surgical specimens from the anal canal, neuronal hyperplasia was found in nine of 56 haemorrhoidectomy specimens and in four of 23 fibrous polyps. In an additional series of 14 resections of the anal canal, neuronal hyperplasia was present in six cases, of which f...

  9. Bilateral duplication of the internal auditory canal

    International Nuclear Information System (INIS)

    Weon, Young Cheol; Kim, Jae Hyoung; Choi, Sung Kyu; Koo, Ja-Won

    2007-01-01

    Duplication of the internal auditory canal is an extremely rare temporal bone anomaly that is believed to result from aplasia or hypoplasia of the vestibulocochlear nerve. We report bilateral duplication of the internal auditory canal in a 28-month-old boy with developmental delay and sensorineural hearing loss. (orig.)

  10. External dose conversion factor from canal water

    International Nuclear Information System (INIS)

    Bhargava, Pradeep; Chitra, S.; Mhatre, Arti S.; Singh, Kapil Deo

    2016-01-01

    External dose needs to be estimated for the radioactivity discharged into the canal, as it constitutes one of the pathways of exposure to the public. Two activities are considered here: i) a walk along the bank of the canal ii) and the walk on the bridge. A concentration of 1 Bq/l is assumed here for the gross beta activity for the estimation of the dose conversion factor. A canal of width 14.39 m and the depth of 2.5 m is considered for this study. Length of the canal is taken to be infinite. Canal side wall is assumed to be the 25 cm thick concrete. Two points are selected, one on the bank, and the second on a bridge 1 m above the top surface of canal water. Dose Conversion factors for the person moving on the Bridge (at one meter above the water surface) and standing on bank of canal is estimated by using the QAD CG code for 137 Cs. Dose conversion factors for the location mentioned above are found to be 1.11E-10 Sv/hr/(Bq/l) and 1.55 E-11 Sv/hr/(Bq/l) for bridge and bank of canal respectively. (author)

  11. An experimental study on the computed tomography of the cervical spinal canal

    International Nuclear Information System (INIS)

    Wakabayashi, Tsuguru

    1980-01-01

    A study was carried out to investigate how accurately CT could delineate the vertebral canal, vertebral body, lamina, intervertebral foramen and transverse process, and which factor influences the size of the vertebral canal, using cervical vertebrae obtained from four cadavers and one skeleton. EMI CT 5005 scanner was used. CT picture depicted accurate shapes of the vertebral canal, body and transverse process. The sagittal diameter of the vertebral canal of CT picture varied by various conditions, such as difference of scanning chance, scanning angle, window width and level, but variations due to different absorption coefficients of the bone surrounding the vertebral canal were negligible. It was most significantly changed by scanning angle. Permissible scanning angle was within 5 0 , and morphological findings were not influenced up to 15 0 . The size of the vertebral canal was most accurately measured under the condition of 400 in width and 250 in level. The optimal condition for delineation of the spine seemed to be 400 in width and 100 - 150 in level. Under the condition at width 400 and level 100, the vertebral canal was delineated narrower by an average 0.6 mm and 0.2 mm in the sagittal and transverse diameter respectively. In CT picture of the imitational ossified posterior Longitudinal ligament made of plastic and alginate, the average narrowing rate of the vertebral canal was 4.4% greater than the one obtained by lateral view of radiograph, but both correlated well with each other. The narrowing rate of the vertebral canal by CT tended to increase in proportion to the increase in scanning angle. (J.P.N.)

  12. Guided Endodontics: a novel treatment approach for teeth with pulp canal calcification and apical pathology.

    Science.gov (United States)

    Krastl, Gabriel; Zehnder, Marc S; Connert, Thomas; Weiger, Roland; Kühl, Sebastian

    2016-06-01

    To present a new treatment approach for teeth with pulp canal calcification (PCC) which require root canal treatment. A 15-year-old male patient presented with pain of his upper right central incisor. The tooth showed signs of apical periodontitis. Due to PCC, location of the root canal was judged to be difficult and associated with a high risk of perforation. A cone beam computed tomography (CBCT) and an intra-oral surface scan were performed and matched using software for virtual implant planning. After planning the position of the drill for root canal location, a virtual template was designed, and the data were exported as an STL file and sent to a 3D printer for template fabrication. The template was positioned on the anterior maxillary teeth. A specific drill was used to penetrate through the obliterated part of the root canal and obtain minimally invasive access to the apical part. The root canal was accessible at 9 mm distance from the apex. Further root canal preparation was carried out using an endodontic rotary instrumentation system. After an interappointment dressing for 4 weeks, the root canal was filled with vertically condensed gutta-percha using an epoxy sealer. The access cavity was restored with a composite material. After 15 months, the patient was clinically asymptomatic with no pain on percussion. The radiograph showed no apical pathology. The presented guided endodontic approach seems to be a safe, clinically feasible method to locate root canals and prevent root perforation in teeth with PCC. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  13. Type III apical transportation of root canal

    Directory of Open Access Journals (Sweden)

    Shiv P Mantri

    2012-01-01

    Full Text Available Procedural accidents leading to complications such as canal transportation have been ascribed to inapt cleaning and shaping concepts. Canal transportation is an undesirable deviation from the natural canal path. Herewith a case of apical transportation of root canal resulting in endodontic retreatment failure and its management is presented. A healthy 21-year-old young male presented discomfort and swelling associated with painful endodontically retreated maxillary incisor. Radiograph revealed periradicular radiolucency involving underfilled 11 and overfilled 12. Insufficiently obturated 11 exhibited apical transportation of canal. This type III transportation was treated by periradicular surgery and repair using white mineral trioxide aggregate (MTA. Comfortable asymptomatic patient presented uneventful healing at third and fourth month recall visits. A decrease in the size of radiolucency in radiograph supported the clinical finding. In the present case, MTA is useful in repairing the transportation defect. The result of these procedures is predictable and successful.

  14. Dravets syndrom

    DEFF Research Database (Denmark)

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

    2010-01-01

    Dravet syndrome is an epileptic syndrome of infancy and early childhood. Most cases of Dravet syndrome seem to be due to a genetic defect causing the sodium channel to malfunction. We describe the main features of the syndrome. This epilepsy is medically intractable, but we call attention...... to the fact that some medications are of benefit and some could exacerbate the condition. Early recognition of the syndrome including by genetic testing could possibly improve outcome and reduce the need for other specialized investigations. Udgivelsesdato: 2010-Feb-22...

  15. Microbiological examination of infected dental root canals.

    Science.gov (United States)

    Gomes, B P F A; Pinheiro, E T; Gadê-Neto, C R; Sousa, E L R; Ferraz, C C R; Zaia, A A; Teixeira, F B; Souza-Filho, F J

    2004-04-01

    The aim of this study was to investigate the root canal microbiota of primary and secondary root-infected canals and the association of constituent species with specific endodontic signs and symptoms. Microbial samples were taken from 60 root canals, 41 with necrotic pulp tissues (primary infection) and 19 with failed endodontic treatment (secondary infection). Strict anaerobic techniques were used for serial dilution, plating, incubation and identification. A total of 224 cultivable isolates were recovered belonging to 56 different bacterial species. Individual root canals yielded a maximum of 10 bacterial species. Of the bacterial isolates, 70% were either strict anaerobes or microphilic. The anaerobes most frequently isolated were: Peptostreptococcus micros (35%), Fusobacterium necrophorum (23.3%), Fusobacterium nucleatum (11.7%), Prevotella intermedia/nigrescens (16.7%), Porphyromonas gingivalis (6.7%) and Porphyromonas endodontalis (5%). The root canal microflora of untreated teeth with apical periodontitis was found to be mixed, comprising gram-negative and gram-positive and mostly anaerobic microorganisms and usually containing more than 3 species per canal. On the other hand, facultative anaerobic and gram-positive bacteria predominated in canals with failed endodontic treatment, which harbored 1-2 species per canal. Suggested relationships were found between anaerobes, especially gram-negatives, and the presence or history of pain, tenderness to percussion and swelling (PEubacterium spp. (both Pspp. (Pspp. (Pspp. (Pspp. (Pspp. (Pspp. (Pspp. (Pspp., P. micros, F. necrophorum (P<0.05). Our findings indicate potential complex interactions of species resulting in characteristic clinical pictures which cannot be achieved by individual species alone. They also indicate that the microbiota of primary infected canals with apical periodontitis differs in number and in species from the secondary infected canals by using the culture technique.

  16. The Inauguration of Suez Canal and Its Impacts on Navigation in seas

    Directory of Open Access Journals (Sweden)

    maryam sheypari

    2016-03-01

    Full Text Available The inauguration of Suez Canal, which connects the Mediterranean Sea to Red Sea, had a great impact on marine communications. In other words, this canal not only offered the easier access of European countries to their colonies in Asia because of the new marine route between Asia and Europe but also developed the use of steamboats instead of sailboats due to its specific geographical position. In fact, the trade between Asia and Europe spanned via the seas located between Asia and Europe after four centuries as the result of inauguration of Suez Canal in 1869A.D. Furthermore, the importance of Seas i.e. Mediterranean Sea, Red Sea and black Sea had the great economic _ political role in the world and the expansion of rivalry between countries in Persian Gulf due to this canal.  This study investigates to the process of diving Suez and the influence of Suez Canal on marine changes among the countries, especially in Persian Gulf by the beginning of the First World War. The outcome of this study demonstrates that the inauguration of Suez Canal led to the rivalry situation for England in the period of its supremacy.

  17. Endogenous Cushing’s Syndrome with Precocious Puberty in an 8-Year-Old Boy due to a Large Unilateral Adrenal Adenoma

    Directory of Open Access Journals (Sweden)

    Muhammad Rajib Hossain

    2013-01-01

    Full Text Available Adrenocortical tumors (ACTs causing Cushing’s syndrome are extremely rare in children and adolescents. Bilateral macronodular adrenocortical disease which is a component of the McCune-Albright syndrome is the most common cause of endogenous Cushing’s syndrome. We report the case of a boy with Cushing’s syndrome who presented with obesity and growth retardation. The child was hypertensive. The biochemical evaluation revealed that his serum cortisol levels were 25.80 g/dL, with a concomitant plasma ACTH level of 10.0 pg/mL and nonsuppressed serum cortisol on high-dose dexamethasone suppression test (HDDST to be 20.38 g/dL. Computed tomography of the abdomen demonstrated a 8 × 6 × 5 cm left adrenal mass with internal calcifications. Following preoperative stabilization, laparotomy was carried out which revealed a lobulated left adrenal mass with intact capsule weighing 120 grams. Histopathological examination revealed a benign cortical neoplastic lesion, suggestive of adrenal adenoma; composed of large polygonal cells with centrally placed nuclei and prominent nucleoli without capsular and vascular invasion. On the seventh postoperative day, cortisol levels were within normal range indicating biochemical remission of Cushing’s syndrome. On followup after three months, the patient showed significant clinical improvement and had lost moderate amount of weight and adrenal imaging was found to be normal.

  18. MELAS and Kearns–Sayre overlap syndrome due to the mtDNA m. A3243G mutation and large-scale mtDNA deletions

    Directory of Open Access Journals (Sweden)

    Nian Yu

    2016-09-01

    Full Text Available This paper reported an unusual manifestation of a 19-year-old Chinese male patient presented with a complex phenotype of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS syndrome and Kearns–Sayre syndrome (KSS. He was admitted to our hospital with the chief complaint of “acute fever, headache and slow reaction for 21 days”. He was initially misdiagnosed as “viral encephalitis”. This Chinese man with significant past medical history of intolerating fatigue presented paroxysmal neurobehavioral attacks that started about 10 years ago. During this span, 3 or 4 attack clusters were described during which several attacks occurred over a few days. The further examination found that the hallmark signs of this patient included progressive myoclonus epilepsy, cerebellar ataxia, hearing loss, myopathic weakness, ophthalmoparesis, pigmentary retinopathy and bifascicular heart block (Wolff–Parkinson–White syndrome. By young age the disease progression is characterized by the addition of migraine, vomiting, and stroke-like episodes, symptoms of MELAS expression, which indicated completion of the MELAS/KSS overlap syndrome. The m. A3243G mitochondrial DNA mutation and single large-scale mtDNA deletions were found in this patient. This mutation has been reported with MELAS, KSS, myopathy, deafness and mental disorder with cognitive impairment. This is the first description with a MELAS/KSS syndrome in Chinese.

  19. Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene.

    Science.gov (United States)

    Ratbi, Ilham; Jaouad, Imane Cherkaoui; Elorch, Hamza; Al-Sheqaih, Nada; Elalloussi, Mustapha; Lyahyai, Jaber; Berraho, Amina; Newman, William G; Sefiani, Abdelaziz

    2016-10-01

    Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss (SNHL), amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. It is the mildest form known to date of peroxisome biogenesis disorder caused by hypomorphic mutations of PEX1 and PEX6 genes. We report on a second Moroccan family with Heimler syndrome with early onset, severe visual impairment and important phenotypic overlap with Usher syndrome. The patient carried a novel homozygous missense variant c.3140T > C (p.Leu1047Pro) of PEX1 gene. As standard biochemical screening of blood for evidence of a peroxisomal disorder did not provide a diagnosis in the individuals with HS, patients with SNHL and retinal pigmentation should have mutation analysis of PEX1 and PEX6 genes. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  20. Central Anticholinergic Syndrome due to Hypoxia-Induced Bradycardia in a Child with Difficult Intubation Undergoing Complete Dental Restoration: A Case Report.

    Directory of Open Access Journals (Sweden)

    Mohamad Gharavifard

    2014-10-01

    Full Text Available Central anticholinergic syndrome (CAS following general anesthesia (GA is a well known syndrome in children and adults. Many cases of CAS have been previously reported in the literature. However, there are only two reports of post resuscitation CAS after administration of small doses of atropine. Hereby, we report a case of CAS in a child undergoing complete dental restoration under GA after receiving a small dose of atropine to reverse hypoxia induced bradycardia. Intraoperative events such as hypoxia or cardiac arrest may play a role as triggers for CAS. However, we cannot establish a causal relationship between the occurrence of CAS and such critical events.

  1. Central Anticholinergic Syndrome due to Hypoxia-Induced Bradycardia in a Child with Difficult Intubation Undergoing Complete Dental Restoration: A Case Report.

    Science.gov (United States)

    Gharavifard, Mohamad; Razavi, Majid; Ghandehari Motlagh, Mehdi; Ziyaeifard, Mohsen

    2014-09-01

    Central anticholinergic syndrome (CAS) following general anesthesia (GA) is a well known syndrome in children and adults. Many cases of CAS have been previously reported in the literature. However, there are only two reports of post resuscitation CAS after administration of small doses of atropine. Hereby, we report a case of CAS in a child undergoing complete dental restoration under GA after receiving a small dose of atropine to reverse hypoxia induced bradycardia. Intraoperative events such as hypoxia or cardiac arrest may play a role as triggers for CAS. However, we cannot establish a causal relationship between the occurrence of CAS and such critical events.

  2. Acceleration induced water removal from ear canals.

    Science.gov (United States)

    Kang, Hosung; Averett, Katelee; Jung, Sunghwan

    2017-11-01

    Children and adults commonly experience having water trapped in the ear canals after swimming. To remove the water, individuals will shake their head sideways. Since a child's ear canal has a smaller diameter, it requires more acceleration of the head to remove the trapped water. In this study, we theoretically and experimentally investigated the acceleration required to break the surface meniscus of the water in artificial ear canals and hydrophobic-coated glass tubes. In experiments, ear canal models were 3D-printed from a CT-scanned human head. Also, glass tubes were coated with silane to match the hydrophobicity in ear canals. Then, using a linear stage, we measured the acceleration values required to forcefully eject the water from the artificial ear canals and glass tubes. A theoretical model was developed to predict the critical acceleration at a given tube diameter and water volume by using a modified Rayleigh-Taylor instability. Furthermore, this research can shed light on the potential of long-term brain injury and damage by shaking the head to push the water out of the ear canal. This research was supported by National Science Foundation Grant CBET-1604424.

  3. Clinical significance of dental root canal microflora.

    Science.gov (United States)

    Gomes, B P; Lilley, J D; Drucker, D B

    1996-01-01

    Previous work by this group has shown that a significant association exists between pain and the presence of either Prevotella or Peptostreptococcus spp. in dental root canals. The aim of this study was to examine a more extensive series of canals microbiologically, to determine whether any other particular endodontic symptoms or clinical signs showed specific associations with individual bacterial species. Seventy root canals were examined microbiologically and clinical data collected to investigate in detail such associations. Of the canals studied, 37 were associated with pain, 49 with tenderness to percussion, 23 with swelling, six with purulent exudate and 57 presented with wet root canals. Anaerobes were isolated from 70.3% of painful canals and from 29.7% of pain-free canals. Significant associations were found between (a) pain and either Prevotella spp. or peptostreptococci, both with P spp. (P Eubacterium spp. (P spp. or Pstr. micros, both with P spp. (each P Eubacterium, Peptostreptococcus, Prevotella or Propionibacterium (each P < 0.05). It was concluded that several different endodontic clinical signs and symptoms are significantly associated with specific bacterial species.

  4. Considerations concerning the Possibility of Contamination in the area of the Poarta Albă – Midia – Năvodari Canal

    OpenAIRE

    DINU, Irina

    2009-01-01

    Abstract. Pollution of the Danube – Black Sea and Poarta Albă – Midia – Năvodari canals is possible due to various sources, such as wastewater from different industrial units, sewage water discharged directly in the canals or along the tributary valleys, navigation, pipelines for the transport of petroleum products. Groundwater flow modeling has provided a useful tool for the simulation of pollution events scenarios, in order to estimate their consequences on the canal water and drinking wate...

  5. Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene.

    Science.gov (United States)

    Saugier-Veber, Pascale; Marguet, Florent; Lecoquierre, François; Adle-Biassette, Homa; Guimiot, Fabien; Cipriani, Sara; Patrier, Sophie; Brasseur-Daudruy, Marie; Goldenberg, Alice; Layet, Valérie; Capri, Yline; Gérard, Marion; Frébourg, Thierry; Laquerrière, Annie

    2017-05-01

    Congenital hydrocephalus is considered as either acquired due to haemorrhage, infection or neoplasia or as of developmental nature and is divided into two subgroups, communicating and obstructive. Congenital hydrocephalus is either syndromic or non-syndromic, and in the latter no cause is found in more than half of the patients. In patients with isolated hydrocephalus, L1CAM mutations represent the most common aetiology. More recently, a founder mutation has also been reported in the MPDZ gene in foetuses presenting massive hydrocephalus, but the neuropathology remains unknown. We describe here three novel homozygous null mutations in the MPDZ gene in foetuses whose post-mortem examination has revealed a homogeneous phenotype characterized by multiple ependymal malformations along the aqueduct of Sylvius, the third and fourth ventricles as well as the central canal of the medulla, consisting in multifocal rosettes with immature cell accumulation in the vicinity of ependymal lining early detached from the ventricular zone. MPDZ also named MUPP1 is an essential component of tight junctions which are expressed from early brain development in the choroid plexuses and ependyma. Alterations in the formation of tight junctions within the ependyma very likely account for the lesions observed and highlight for the first time that primary multifocal ependymal malformations of the ventricular system is genetically determined in humans. Therefore, MPDZ sequencing should be performed when neuropathological examination reveals multifocal ependymal rosette formation within the aqueduct of Sylvius, of the third and fourth ventricles and of the central canal of the medulla.

  6. Tricky typhus ticks two: A report of two sisters from North India presenting with acute respiratory distress syndrome due to scrub typhus

    Directory of Open Access Journals (Sweden)

    R Pai

    2016-01-01

    Full Text Available Scrub typhus is emerging as an important cause of acute febrile illness in Northern India. This is a report of two sisters presenting concurrently with acute respiratory distress syndrome. A diagnosis of scrub typhus was made in both the patients, and they were successfully treated with doxycycline.

  7. Coexisting diseases modifying each other’s presentation - lack of growth failure in Turner syndrome due to the associated pituitary gigantism

    OpenAIRE

    Dragović Tamara; Đuran Zorana; Jelić Svetlana; Marinković Dejan; Kiković Saša; Kuzmić-Janković Snežana; Hajduković Zoran

    2016-01-01

    Introduction. Turner syndrome presents with one of the most frequent chromosomal aberrations in female, typically presented with growth retardation, ovarian insufficiency, facial dysmorphism, and numerous other somatic stigmata. Gigantism is an extremely rare condition resulting from an excessive growth hormone (GH) secretion that occurs during childhood before the fusion of epiphyseal growth plates. The major clinical feature of gigantism is growth acceler...

  8. Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro).

    Science.gov (United States)

    Yuca, Sevil Ari; Rendtorff, Nanna Dahl; Boulahbel, Houda; Lodahl, Marianne; Tranebjærg, Lisbeth; Cesur, Yasar; Dogan, Murat; Yilmaz, Cahide; Akgun, Cihangir; Acikgoz, Mehmet

    2012-01-01

    Wolfram syndrome, also named "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is an inherited association of juvenile-onset diabetes mellitus and optic atrophy as key diagnostic criteria. Renal tract abnormalities and neurodegenerative disorder may occur in the third and fourth decade. The wolframin gene, WFS1, associated with this syndrome, is located on chromosome 4p16.1. Many mutations have been described since the identification of WFS1 as the cause of Wolfram syndrome. We identified a new homozygous WFS1 mutation (c.1532T>C; p.Leu511Pro) causing Wolfram syndrome in a large inbred Turkish family. The patients showed early onset of IDDM, diabetes insipidus, optic atrophy, sensorineural hearing impairment and very rapid progression to renal failure before age 12 in three females. Ectopic expression of the wolframin mutant in HEK cells results in greatly reduced levels of protein expression compared to wild-type wolframin, strongly supporting that this mutation is disease-causing. The mutation showed perfect segregation with disease in the family, characterized by early and severe clinical manifestations. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

  9. Mandibular molar with five root canals.

    Science.gov (United States)

    Barletta, Fernando Branco; Dotto, Sidney Ricardo; Reis, Magda de Sousa; Ferreira, Ronise; Travassos, Rosana Maria Coelho

    2008-12-01

    The purpose of this study was to demonstrate the importance of knowledge of the internal anatomy of root canals for the success of endodontic treatment. Lack of knowledge of anatomic variations and their characteristics in different teeth has been pointed out as one of the main causes of endodontic therapy failure. In this report, the authors describe the endodontic treatment of a mandibular first molar with five root canals, evaluate the rate of occurrence of this number of canals, and discuss the importance of their identification and treatment.

  10. 21 CFR 872.3810 - Root canal post.

    Science.gov (United States)

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Root canal post. 872.3810 Section 872.3810 Food... DEVICES DENTAL DEVICES Prosthetic Devices § 872.3810 Root canal post. (a) Identification. A root canal... of the platinum group intended to be cemented into the root canal of a tooth to stabilize and support...

  11. Assessment of periapical health, quality of root canal filling, and ...

    African Journals Online (AJOL)

    Sixty three teeth were found to have short root canal fillings, whereas 74 teeth had adequate root canal fillings, and the remaining 10 teeth had over extended root canal filling. A significant correlation was observed between the length of root filling and apical periodontitis (P = 0,023). Inadequately dense root canal filling was ...

  12. Scanning electron microscopy investigation of canal cleaning after canal preparation with nickel titanium files

    Directory of Open Access Journals (Sweden)

    Živković Slavoljub

    2010-01-01

    Full Text Available Introduction. Root canal preparation is the most important phase of endodontic procedure and it consists of adequate canal space cleaning and shaping. In recent years, rotary instruments and techniques have gained importance because of the great efficacy, speed and safety of the preparation procedure. Objective. The aim of this research was to investigate the influence of different NiTi files on the canal wall cleaning quality, residual dentine debris and smear layer. Methods. The research was conducted on extracted human teeth in vitro conditions. Teeth were divided in 7 main groups depending on the kind of instruments used for root canal preparation: ProTaper, GT, ProFile, K-3, FlexMaster, hand ProTaper and hand GT. Root canal preparation was accomplished by crown-down technique. Prepared samples were assessed on scanning electron microscopy JEOL, JSM-6460 LV. The evaluation of dentine debris was done with 500x magnification, and the evaluation of smear layer with 1,000 times magnification. Quantitive assessment of dentine debris and smear layer was done according to the criteria of Hulsmann. Results. The least amount of debris and smear layer has been found in canals shaped with ProFile instruments, and the largest amount in canals shaped with FlexMaster instruments. Canal cleaning efficacy of hand GT and ProTaper files has been similar to cleaning efficacy of rotary NiTi files. Statistic analysis has shown a significant difference in amount of dentine debris and smear layer on the canal walls between sample groups shaped with different instruments. Conclusion. Completely clean canals have not been found in any tested group of instruments. The largest amount of debris and smear layer has been found in the apical third of all canals. The design and the type of endodontic instruments influence the efficacy of the canal cleaning.

  13. Usefulness and limitations of neuroradiological examinations in lumbar canal stenosis

    International Nuclear Information System (INIS)

    Nishi, Shogo; Hanakita, Junya; Suwa, Hideyuki; Ohta, Fumito; Sakaida, Hiroshi

    1989-01-01

    Since 1983, we have performed 434 spinal surgery operations. Among them are included 51 cases of lumbar canal stenosis. For these 51 cases, we performed several neuroradiological examinations, such as lumbar plain X-ray, myelography, metrizamide-CT scan (Met-CT) and magnetic resonance imaging (MRI). On myelography, these 51 patients were divided into three types; a complete block type with 29 patients, soy-beans type with 7 patients and strangulation type with 15 patients. Met CT was performed in 37 cases. In both strangulation type and soy-beans type which had been showed through myelography, Met-CT could clearly demonstrate the subarachnoid space, and several structures around the lumbar spinal canal could be clearly identified. In cases which myelography revealed as complete-block type, we identified two subtypes. In the first type subarachnoid space was clearly demonstrated by Met-CT. The second type was comprised of those cases where Met-CT scan could not demonstrate subarachnoid space at all. MRI was performed on 21 patients. MRI clearly showed the anatomical relationship of disc, subarachnoid space, yellow ligament and hypertrophied bony structure. MRI was thus able to bring useful information about lumbar canal stenosis even in cases where Met-CT gave little information due to the lack of metrizamide penetration of the stenotic subarachnoid space. (J.P.N.)

  14. Environmental Characterization and Radioecological Assessment of Suez Canal Area, Egypt

    International Nuclear Information System (INIS)

    Ramadan, A.A.; Zaki, A.H.; Diab, M.; Al-Ashry, KH.A.M.

    2015-01-01

    The present study was conducted to investigate the environmental characteristic and radioecological assessment of the Suez Canal area, Egypt. The hydrochemical parameters including major elements (Ca, Mg, Na, Cl, SO 4 , HCO 3 ) and trace elements (Zn, Pb, Fe, Cu, Cd) of the soil, plant and water samples collected from the Suez Canal area were measured. The natural radioactivity and man-made radionuclides were measured in the same samples.The specific activities of 238 U series, 232 Th series, 40 K and 137 Cs (Bq/kg dry weight) were measured using gamma ray spectrometers based on hyper pure germanium detectors. The absorbed radiation dose rates in air (nGy/h) due to natural radionuclides in soil, and radium equivalent activity index (Bq/kg) were calculated. The average specific activity of 238 U series, 232 Th series and 40 K in soil samples were 12.9, 10.2 and 144.9 Bq/kg, respectively. The activity concentrations of 137 Cs in the different collected samples and 238 U and 232 Th series in plant and water samples were less than the lower detection limit. The average specific activity of 40 K in plant samples was 325.8 Bq/kg. The concentration and distribution pattern of 238 U series in soil can be used to trace the radiological impact of the non-nuclear industries on the Suez Canal area.

  15. Radioanatomy of the singular nerve canal

    Energy Technology Data Exchange (ETDEWEB)

    Muren, C. [Dept. of Diagnostic Radiology, Sabbatsbergs Hospital, Stockholm (Sweden); Wadin, K. [University Hospital, Uppsala (Sweden); Dimopoulos, P. [University Hospital, Uppsala (Sweden)

    1991-08-01

    The singular canal conveys vestibular nerve fibers from the ampulla of the posterior semicircular canal to the posteroinferior border of the internal auditory meatus. Radiographic identification of this anatomic structure helps to distinguish it from a fracture. It is also a landmark in certain surgical procedures. Computed tomography (CT) examinations of deep-frozen temporal bone specimens were compared with subsequently prepared plastic casts of these bones, showing good correlation between the anatomy and the images. The singular canal and its variable anatomy were studied in CT examinations of 107 patients. The singular canal could be identified, in both the axial and in the coronal planes. Its point of entry into the internal auditory meatus varied considerably. (orig.)

  16. Infected Hydrocele of the Canal of Nuck

    Directory of Open Access Journals (Sweden)

    Parkash Mandhan

    2013-01-01

    Full Text Available Hydrocele of the canal of Nuck in children is rare. It may present as incarcerated inguinal hernia and necessitates emergency exploration. Risk of infection in hydrocele of the canal of nuck is very rare. We present a case report of a 5-year-old girl who presented with a left tender inguinolabial region swelling with fever, tachycardia, and mild dehydration. The clinical features were suggestive of strangulated left inguinal hernia and further imaging and surgical exploration revealed it to be an infected hydrocele of the canal of Nuck. High ligation and hydrocelectomy were performed. Hydrocele of the canal of Nuck in a female child presenting with an inguinal swelling should be considered in differential diagnosis.

  17. Interoceanic canal excavation scheduling via computer simulation

    Energy Technology Data Exchange (ETDEWEB)

    Baldonado, Orlino C [Holmes and Narver, Inc., Los Angeles, CA (United States)

    1970-05-15

    The computer simulation language GPSS/360 was used to simulate the schedule of several nuclear detonation programs for the interoceanic canal project. The effects of using different weather restriction categories due to air blast and fallout were investigated. The effect of increasing the number of emplacement and stemming crews and the effect of varying the reentry period after detonating a row charge or salvo were also studied. Detonation programs were simulated for the proposed Routes 17A and 25E. The study demonstrates the method of using computer simulation so that a schedule and its associated constraints can be assessed for feasibility. Since many simulation runs can be made for a given set of detonation program constraints, one readily obtains an average schedule for a range of conditions. This provides a method for analyzing time-sensitive operations so that time and cost-effective operational schedules can be established. A comparison of the simulated schedules with those that were published shows them to be similar. (author)

  18. Interoceanic canal excavation scheduling via computer simulation

    International Nuclear Information System (INIS)

    Baldonado, Orlino C.

    1970-01-01

    The computer simulation language GPSS/360 was used to simulate the schedule of several nuclear detonation programs for the interoceanic canal project. The effects of using different weather restriction categories due to air blast and fallout were investigated. The effect of increasing the number of emplacement and stemming crews and the effect of varying the reentry period after detonating a row charge or salvo were also studied. Detonation programs were simulated for the proposed Routes 17A and 25E. The study demonstrates the method of using computer simulation so that a schedule and its associated constraints can be assessed for feasibility. Since many simulation runs can be made for a given set of detonation program constraints, one readily obtains an average schedule for a range of conditions. This provides a method for analyzing time-sensitive operations so that time and cost-effective operational schedules can be established. A comparison of the simulated schedules with those that were published shows them to be similar. (author)

  19. Evaluation of a patient with classical Ehlers-Danlos syndrome due to a 9q34 duplication affecting COL5A1.

    Science.gov (United States)

    Kuroda, Yukiko; Ohashi, Ikuko; Naruto, Takuya; Ida, Kazumi; Enomoto, Yumi; Saito, Toshiyuki; Nagai, Jun-Ichi; Kurosawa, Kenji

    2018-03-09

    Ehlers-Danlos syndrome classical type is a connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and joint hypermobility. The condition typically results from mutations in COL5A1 or COL5A2 leading to the functional haploinsufficiency. Here, we report of a 24-year-old male with mild intellectual disability, dysmorphic features, and a phenotype consistent with Ehlers-Danlos syndrome classical type. A copy number variant-calling algorithm from panel sequencing data identified the deletions exons 2-11 and duplications of exons 12-67 within COL5A1. Array comparative genomic hybridization confirmed a 94 kb deletion at 9q34.3 involving exons 2-11 of COL5A1, and a 3.4 Mb duplication at 9q34.3 involving exons 12-67 of COL5A1. © 2018 Japanese Teratology Society.

  20. Altered Pathogenesis of Porcine Respiratory Coronavirus in Pigs due to Immunosuppressive Effects of Dexamethasone: Implications for Corticosteroid Use in Treatment of Severe Acute Respiratory Syndrome Coronavirus▿

    OpenAIRE

    Jung, Kwonil; Alekseev, Konstantin P.; Zhang, Xinsheng; Cheon, Doo-Sung; Vlasova, Anastasia N.; Saif, Linda J.

    2007-01-01

    The pathogenesis and optimal treatments for severe acute respiratory syndrome (SARS) are unclear, although corticosteroids were used to reduce lung and systemic inflammation. Because the pulmonary pathology of porcine respiratory coronavirus (PRCV) in pigs resembles SARS, we used PRCV as a model to clarify the effects of the corticosteroid dexamethasone (DEX) on coronavirus (CoV)-induced pneumonia. Conventional weaned pigs (n = 130) in one of four groups (PRCV/phosphate-buffered saline [PBS] ...

  1. Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).

    Science.gov (United States)

    Balasubramaniam, Shanti; Lewis, B; Mock, D M; Said, H M; Tarailo-Graovac, M; Mattman, A; van Karnebeek, C D; Thorburn, D R; Rodenburg, R J; Christodoulou, J

    2017-01-01

    Leigh syndrome (LS), or subacute necrotizing encephalomyelopathy, is a genetically heterogeneous, relentlessly progressive, devastating neurodegenerative disorder that usually presents in infancy or early childhood. A diagnosis of Leigh-like syndrome may be considered in individuals who do not fulfil the stringent diagnostic criteria but have features resembling Leigh syndrome.We describe a unique presentation of Leigh-like syndrome in a 3-year-old boy with elevated 3-hydroxyisovalerylcarnitine (C5-OH) on newborn screening (NBS). Subsequent persistent plasma elevations of C5-OH and propionylcarnitine (C3) as well as fluctuating urinary markers were suggestive of multiple carboxylase deficiency (MCD). Normal enzymology and mutational analysis of genes encoding holocarboxylase synthetase (HLCS) and biotinidase (BTD) excluded MCD. Biotin uptake studies were normal excluding biotin transporter deficiency. His clinical features at 13 months of age comprised psychomotor delay, central hypotonia, myopathy, failure to thrive, hypocitrullinemia, recurrent episodes of decompensation with metabolic keto-lactic acidosis and an episode of hyperammonemia. Biotin treatment from 13 months of age was associated with increased patient activity, alertness, and attainment of new developmental milestones, despite lack of biochemical improvements. Whole exome sequencing (WES) analysis failed to identify any other variants which could likely contribute to the observed phenotype, apart from the homoplasmic (100%) m.8993T>G variant initially detected by mitochondrial DNA (mtDNA) sequencing.Hypocitrullinemia has been reported in patients with the m.8993T>G variant and other mitochondrial disorders. However, persistent plasma elevations of C3 and C5-OH have previously only been reported in one other patient with this homoplasmic mutation. We suggest considering the m.8993T>G variant early in the diagnostic evaluation of MCD-like biochemical disturbances, particularly when associated with

  2. Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6

    Czech Academy of Sciences Publication Activity Database

    Hartmannová, H.; Piherová, L.; Tauchmannová, Kateřina; Kidd, K.; Acott, P. D.; Crocker, J. F. S.; Oussedik, Y.; Mallet, M.; Hodaňová, K.; Stránecký, V.; Přistoupilová, A.; Barešová, V.; Jedličková, I.; Živná, M.; Sovová, J.; Hůlková, H.; Robins, V.; Vrbacký, Marek; Pecina, Petr; Kaplanová, Vilma; Houštěk, Josef; Mráček, Tomáš; Thibeault, Y.; Bleyer, A. J.; Kmoch, S.

    2016-01-01

    Roč. 25, č. 18 (2016), s. 4062-4079 ISSN 0964-6906 R&D Projects: GA ČR(CZ) GB14-36804G; GA MŠk(CZ) LL1204 Institutional support: RVO:67985823 Keywords : Acadian variant of Fanconi syndrome * mitochondrial complex I deficiency * NDUFAF6 * C8ORF38 * non-coding mutation * alternative splicing variant * protein isoforms Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 5.340, year: 2016

  3. Mechanics of the Panama Canal slides

    Science.gov (United States)

    Becker, George F.

    1917-01-01

    Dr. Becker visited the Canal Zone in 1913 as a geologist of the United States Geological Survey and since that time has given the problem the benefit of his study. His appointment as a member of the committee of the National Academy of Sciences has made it appropriate for his conclusions, based upon his personal observations and already reported in part to the Canal Commission, to be stated for the benefit of his associates and other American scientists and engineers.

  4. Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations--what are the minimal criteria?

    Science.gov (United States)

    Segel, Reeval; Levy-Lahad, Ephrat; Pasutto, Francesca; Picard, Elie; Rauch, Anita; Alterescu, Gheona; Schimmel, Michael S

    2009-11-01

    Microphthalmic syndrome 9 (OMIM601186) is a genetically and phenotypically variable condition, comprising anophthalmia, pulmonary hypoplasia, diaphragmatic hernia, and cardiac malformations (PDAC syndrome). Reported cases have all been associated with fetal/neonatal death or developmental delay. Recessive stimulated by retinoic acid gene 6 homolog (STRA6) mutations have recently been identified as the cause of cases of PDAC in which distinct, "bushy" eyebrows have been observed. We describe a patient with clinical anophthalmia, bushy eyebrows, patent ductus arteriosus, and normal development at age 30 months, who is a compound heterozygote for two novel STRA6 missense mutations. This patient's phenotype is consistent with the multisystemic malformations of PDAC syndrome, but is somewhat milder. This is the first living patient with compound heterozygous STRA6 mutations, which may explain her milder phenotype. We conclude that STRA6 analysis should be considered in all patients with clinical anophthalmia. Genetic counseling should be cautious with respect to long-term developmental outcomes. Copyright 2009 Wiley-Liss, Inc.

  5. Juvenile Leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene: a mitochondrial syndrome presenting from birth to adolescence.

    Science.gov (United States)

    Leshinsky-Silver, Esther; Shuvalov, Ruslan; Inbar, Shani; Cohen, Sarit; Lev, Dorit; Lerman-Sagie, Tally

    2011-04-01

    An increasing number of reports describe mutations in mitochondrial DNA coding regions, especially in mitochondrial DNA- encoded nicotinamide adenine dinucleotide dehydrogenase subunit genes of the respiratory chain complex I, as causing early-onset Leigh syndrome. The authors report the molecular findings in a 24-year-old patient with juvenile-onset Leigh syndrome presenting with optic atrophy, ataxia dystonia, and epilepsy. A brain magnetic resonance imaging revealed bilateral basal ganglia and thalamic hypointensities, and a magnetic resonance spectroscopy revealed an increased lactate peak. The authors identified a T14487C change causing M63V substitution in the mitochondrial ND6 gene. The mutation was heteroplasmic in muscle and blood samples, with different mutation loads, and was absent in the patient's mother's urine and blood samples. They suggest that the T14487C mtDNA mutation should be analyzed in Leigh syndrome, presenting with optic atrophy, ataxia, dystonia, and epilepsy, regardless of age.

  6. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole

    2014-01-01

    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...

  7. The fluid mechanics of root canal irrigation.

    Science.gov (United States)

    Gulabivala, K; Ng, Y-L; Gilbertson, M; Eames, I

    2010-12-01

    Root canal treatment is a common dental operation aimed at removing the contents of the geometrically complex canal chambers within teeth; its purpose is to remove diseased or infected tissue. The complex chamber is first enlarged and shaped by instruments to a size sufficient to deliver antibacterial fluids. These irrigants help to dissolve dying tissue, disinfect the canal walls and space and flush out debris. The effectiveness of the procedure is limited by access to the canal terminus. Endodontic research is focused on finding the instruments and clinical procedures that might improve success rates by more effectively reaching the apical anatomy. The individual factors affecting treatment outcome have not been unequivocally deciphered, partly because of the difficulty in isolating them and in making the link between simplified, general experimental models and the complex biological objects that are teeth. Explicitly considering the physical processes within the root canal can contribute to the resolution of these problems. The central problem is one of fluid motion in a confined geometry, which makes the dispersion and mixing of irrigant more difficult because of the absence of turbulence over much of the canal volume. The effects of treatments can be understood through the use of scale models, mathematical modelling and numerical computations. A particular concern in treatment is that caustic irrigant may penetrate beyond the root canal, causing chemical damage to the jawbone. In fact, a stagnation plane exists beyond the needle tip, which the irrigant cannot penetrate. The goal is therefore to shift the stagnation plane apically to be coincident with the canal terminus without extending beyond it. Needle design may solve some of the problems but the best design for irrigant penetration conflicts with that for optimal removal of the bacterial biofilm from the canal wall. Both irrigant penetration and biofilm removal may be improved through canal fluid

  8. The fluid mechanics of root canal irrigation

    International Nuclear Information System (INIS)

    Gulabivala, K; Ng, Y-L; Gilbertson, M; Eames, I

    2010-01-01

    Root canal treatment is a common dental operation aimed at removing the contents of the geometrically complex canal chambers within teeth; its purpose is to remove diseased or infected tissue. The complex chamber is first enlarged and shaped by instruments to a size sufficient to deliver antibacterial fluids. These irrigants help to dissolve dying tissue, disinfect the canal walls and space and flush out debris. The effectiveness of the procedure is limited by access to the canal terminus. Endodontic research is focused on finding the instruments and clinical procedures that might improve success rates by more effectively reaching the apical anatomy. The individual factors affecting treatment outcome have not been unequivocally deciphered, partly because of the difficulty in isolating them and in making the link between simplified, general experimental models and the complex biological objects that are teeth. Explicitly considering the physical processes within the root canal can contribute to the resolution of these problems. The central problem is one of fluid motion in a confined geometry, which makes the dispersion and mixing of irrigant more difficult because of the absence of turbulence over much of the canal volume. The effects of treatments can be understood through the use of scale models, mathematical modelling and numerical computations. A particular concern in treatment is that caustic irrigant may penetrate beyond the root canal, causing chemical damage to the jawbone. In fact, a stagnation plane exists beyond the needle tip, which the irrigant cannot penetrate. The goal is therefore to shift the stagnation plane apically to be coincident with the canal terminus without extending beyond it. Needle design may solve some of the problems but the best design for irrigant penetration conflicts with that for optimal removal of the bacterial biofilm from the canal wall. Both irrigant penetration and biofilm removal may be improved through canal fluid

  9. Turner Syndrome

    Science.gov (United States)

    ... Failure to begin sexual changes expected during puberty Sexual development that "stalls" during teenage years Early end to menstrual cycles not due to pregnancy For most women with Turner syndrome, inability to ...

  10. Is the drug-induced hypersensitivity syndrome (DIHS due to human herpesvirus 6 infection or to allergy-mediated viral reactivation? Report of a case and literature review

    Directory of Open Access Journals (Sweden)

    Borgia Guglielmo

    2010-03-01

    Full Text Available Abstract Background Drug-Induced Hypersensitivity Syndrome (DIHS is a severe and rare systemic reaction triggered by a drug (usually an antiepileptic drug. We present a case of DISH and we review studies on the clinical features and treatment of DIHS, and on its pathogenesis in which two elements (Herpesvirus infection and the drug interact with the immune system to trigger such a syndrome that can lead to death in about 20% of cases. Case presentation We report the case of a 26-year old woman with fever, systemic maculopapular rash, lymphadenopathy, hepatitis and eosinophilic leukocytosis. She had been treated with antibiotics that gave no benefit. She was taking escitalopram and lamotrigine for a bipolar disease 30 days before fever onset. Because the patient's general condition deteriorated, betamethasone and acyclovir were started. This treatment resulted in a mild improvement of symptoms. Steroids were rapidly tapered and this was followed with a relapse of fever and a worsening of laboratory parameters. Human herpesvirus 6 (HHV-6 DNA was positive as shown by PCR. Drug-Induced Hypersensitivity Syndrome (DIHS was diagnosed. Symptoms regressed on prednisone (at a dose of 50 mg/die that was tapered very slowly. The patient recovered completely. Conclusions The search for rare causes of fever led to complete resolution of a very difficult case. As DIHS is a rare disease the most relevant issue is to suspect and include it in differential diagnosis of fevers of unknown origin. Once diagnosed, the therapy is easy (steroidal administration and often successful. However our case strongly confirms that attention should be paid on the steroidal tapering that should be very slow to avoid a relapse.

  11. Spontaneous Retroperitoneal Hemorrhage (Wunderlich Syndrome due to Large Upper Pole Renal Angiomyolipoma: Does Robotic-Assisted Laparoscopic Partial Nephrectomy Have a Role in Primary Treatment?

    Directory of Open Access Journals (Sweden)

    Achilles Ploumidis

    2013-01-01

    Full Text Available Spontaneous rapture with consequent retroperitoneal hemorrhage (Wunderlich’s syndrome is the complication mostly feared from large renal angiomyolipomas (RAMLs. In hemodynamic stable patients, minimal invasive therapies have superseded open surgery as the mainstay of treatment, with contemporary cases mostly treated by selective arterial embolization. Robotic-assisted laparoscopic partial nephrectomy (RALPN is an established minimal access treatment that has been used in the past for benign and malignant lesions of the kidney in the elective setting, but rarely in urgent situations as primary treatment. We present a case of a ruptured RAML in a young female treated effectively by RALPN.

  12. Industrial canal waterfronts in The Netherlands : transforming the canal zones of B5

    NARCIS (Netherlands)

    Curulli, G.I.

    2012-01-01

    Industrial Canal Waterfronts in The Netherlands provides a comprehensive presentation of the characteristics and challenges of five interconnected and dismissed industrial canal zones located in the Dutch Brabant cities of Eindhoven, Breda, Tilburg, s’-Hertogenbosch and Helmond (B5). Through the

  13. 77 FR 42644 - Safety Zone; Canal Fest of the Tonawandas, Erie Canal, Tonawanda, NY

    Science.gov (United States)

    2012-07-20

    .... ACTION: Temporary final rule. SUMMARY: The Coast Guard is establishing a temporary safety zone on the... Canal during the Canal Fest of the Tonawandas Fireworks display. This temporary safety zone is necessary to protect spectators and vessels from the hazards associated with a fireworks display. DATES: This...

  14. Cochlear Implantation in Patients with Keratitis-Ichthyosis-Deafness Syndrome: A Report of Two Cases

    Directory of Open Access Journals (Sweden)

    Birgul Gumus

    2017-01-01

    Full Text Available Background. Keratitis-ichthyosis-deafness (KID syndrome is a syndrome which presents with hearing loss and visual and keratinization disorders. In such patients, hearing aids cannot be effectively used in the rehabilitation of hearing loss because of the frequent blockage of the external ear canal with epithelial debris and due to dry and tense skin of the external ear canal. Moreover, severe or profound hearing loss also limits the benefits gained from the conventional hearing aids. On the other hand, cochlear implantation is a method that has been used in limited cases in the literature. Case Report. This study presents the results of cochlear implantation applied in our clinic to two children who had been diagnosed with KID. Audiological assessments before and after the cochlear implant operation were performed using pure-tone audiometry, immittance audiometry, and auditory brainstem response (ABR, and the postoperative follow-up was conducted using pure-tone audiometry. Conclusion. Skin problems, visual disturbances, and other additional problems complicate the short-term and long-term rehabilitation after implantation in individuals with KID syndrome. Close monitoring should be exercised due to possible skin complications that may develop during the postoperative period. The families and rehabilitation teams should be warned about the possible visual disturbances and skin complications.

  15. Primary Synovial Sarcoma of External Auditory Canal: A Case Report.

    Science.gov (United States)

    Devi, Aarani; Jayakumar, Krishnannair L L

    2017-07-20

    Synovial sarcoma is a rare malignant tumor of mesenchymal origin. Primary synovial sarcoma of the ear is extremely rare and to date only two cases have been published in English medical literature. Though the tumor is reported to have an aggressive nature, early diagnosis and treatment may improve the outcome. Here, we report a rare case of synovial sarcoma of the external auditory canal in an 18-year-old male who was managed by chemotherapy and referred for palliation due to tumor progression.

  16. Use Of Noninvazive Positive Pressure Ventilation in a Case of Diffuse Alveolar Hemorrhage Due to Goodpasture%u2019s Syndrome

    Directory of Open Access Journals (Sweden)

    Bunyamin Sertogullarindan

    2014-03-01

    Full Text Available Antiglomerular basement membrane antibody disease is manifested by progressive glomerulonephritis, intraalveolar hemorrhage and antiglomerular basement membrane antibodies. It is frequently characterized by mortality. We present a case of a 18 year-old  young showing remission by early diagnosis. The patient was admitted to emergency department with symptoms and findings of atypic pneumonia with bloody sputum. Chest radiography detected patchy alveolar opacities (Figure A. An ampric antibacterial treatment was given including macrolide, and bronchodilators because of bronchospasm. The patient was suspected for goodpasture’s syndrome (GPS. Anti-glomerular basement membrane (AGBM antibodies test was send. He developed massive alveolar haemorrhage in the resolution phase of atypic pneumonia. Laboratory examination revealed proteinuria of 20 mg/ dl, anemia Hb of 8 g/dl, hematocrit of 25%, microscopic hematuria of 350 erythrocite /HPF. AGBM antibodies was found as positive. GPS was diagnosed. Early immunosuppressive treatment with pulse methylprednisolone and cyclophosphamide and plazmaferez was started. Noninvasive positive pressure ventilation (NPPV was used for severe hypoxemia. Haemolytic anemia and thrombocytopenia developed under plasmaphresis treatment. Early treatment resulted with remmission. In conclusion, the current case showed that Goodpasture’s syndrome may have a favorable prognosis with early diagnosis and proper treatments including NPPV.

  17. Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(15;19)(q12;p13.3).

    Science.gov (United States)

    Dang, Vy; Surampalli, Abhilasha; Manzardo, Ann M; Youn, Stephanie; Butler, Merlin G; Gold, June-Anne; Kimonis, Virginia E

    2016-01-01

    Prader-Willi syndrome (PWS) is a complex, multisystem genetic disorder characterized by endocrine, neurologic, and behavioral abnormalities. We report the first case of an unbalanced de novo reciprocal translocation of chromosomes 15 and 19, 45,XY,-15,der(19)t(15;19)(q12;p13.3), resulting in monosomy for the PWS critical chromosome region. Our patient had several typical features of PWS including infantile hypotonia, a poor suck and feeding difficulties, tantrums, skin picking, compulsions, small hands and feet, and food seeking, but not hypopigmentation, a micropenis, cryptorchidism or obesity as common findings seen in PWS at the time of examination at 6 years of age. He had seizures noted from 1 to 3 years of age and marked cognitive delay. High-resolution SNP microarray analysis identified an atypical PWS type I deletion in chromosome 15 involving the proximal breakpoint BP1. The deletion extended beyond the GABRB3 gene but was proximal to the usual distal breakpoint (BP3) within the 15q11q13 region, and GABRA5, GABRG3, and OCA2 genes were intact. No deletion of band 19p13.3 was detected; therefore, the patient was not at an increased risk of tumors from the Peutz-Jeghers syndrome associated with a deletion of the STK11 gene. © 2016 S. Karger AG, Basel.

  18. Enhanced MRI in patients with Ramsay-Hunt's syndrome

    International Nuclear Information System (INIS)

    Yanagida, Masahiro; Ushiro, Koichi; Yamashita, Toshio; Kumazawa, Tadami; Katoh, Tsutomu

    1993-01-01

    Enhanced MRI was performed in 14 patients with Ramsay-Hunt,s syndrome to investigate the pathogenesis of this syndrome. All MRI studies were performed on a 0.5T superconductivity MRI system using a head coil with Gd-DTPA. Enhancement was observed in the areas of the distal internal auditory canal and labyrinthine segment in many patients, and was especially prominent in patients suffering from vertigo, tinnitus, and hearing loss. In some patients it involved not only the facial nerve of the internal auditory canal but also the cochlear nerve and vestibular nerves. Since histological changes of the facial nerve in patients with Ramsay-Hunt's syndrome are assumed to occur in the distal internal auditory canal and labyrinthine segment, which is more proximal than the geniculate ganglion, and the possibility is suggested that inflammation may be spread to the vestibular and cochlear nerve via the internal auditory canal. (14 refs., 2 figs.)

  19. Enhanced MRI in patients with Ramsay-Hunt's syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Yanagida, Masahiro; Ushiro, Koichi; Yamashita, Toshio; Kumazawa, Tadami [Kansai Medical Univ., Osaka (Japan). Dept. of Otolaryngology; Katoh, Tsutomu [Kansai Medical Univ., Osaka (Japan). Dept. of Radiology

    1993-01-01

    Enhanced MRI was performed in 14 patients with Ramsay-Hunt,s syndrome to investigate the pathogenesis of this syndrome. All MRI studies were performed on a 0.5T superconductivity MRI system using a head coil with Gd-DTPA. Enhancement was observed in the areas of the distal internal auditory canal and labyrinthine segment in many patients, and was especially prominent in patients suffering from vertigo, tinnitus, and hearing loss. In some patients it involved not only the facial nerve of the internal auditory canal but also the cochlear nerve and vestibular nerves. Since histological changes of the facial nerve in patients with Ramsay-Hunt's syndrome are assumed to occur in the distal internal auditory canal and labyrinthine segment, which is more proximal than the geniculate ganglion, and the possibility is suggested that inflammation may be spread to the vestibular and cochlear nerve via the internal auditory canal. (14 refs., 2 figs.).

  20. Radiation-induced external ear canal cholesteatoma-like disease

    Energy Technology Data Exchange (ETDEWEB)

    Ishihara, Akiko; Okuno, Hideji; Noguchi, Keisuke; Komatsuzaki, Atsushi [Tokyo Medical and Dental Univ. (Japan). School of Medicine

    1999-06-01

    Three cases of cholesteatoma-like disease in the ear canals after radiation therapy for head and neck tumor were reported. Effect of irradiation on bone and soft tissue including skin brings about pathological reaction to the external ear canal as well. Two types of disease resembling cholesteatomas have been recognized: keratosis obturans (KO) and external auditory canal cholesteatoma (EACC). KO appears to be derived from disease of canal skin involved with keratinization, creating a widning of the canal. EACC, on the other hand, seems to develop in the disease of bony canal where a localized absorption of its bone with invasion of squamous epithelium takes place. (author)

  1. Middle and inner ear malformations in mutation-proven branchio-oculo-facial (BOF) syndrome: case series and review of the literature.

    Science.gov (United States)

    Carter, Melissa T; Blaser, Susan; Papsin, Blake; Meschino, Wendy; Reardon, Willie; Klatt, Regan; Babul-Hirji, Riyana; Milunsky, Jeff; Chitayat, David

    2012-08-01

    Hearing impairment is common in individuals with branchio-oculo-facial (BOF) syndrome. The majority of described individuals have conductive hearing impairment due to malformed ossicles and/or external canal stenosis or atresia, although a sensorineural component to the hearing impairment in BOF syndrome is increasingly being reported. Sophisticated computed tomography (CT) of the temporal bone has revealed middle and inner ear malformations in three previous reports. We present middle and inner ear abnormalities in three additional individuals with mutation-proven BOF syndrome. We suggest that temporal bone CT imaging be included in the medical workup of a child with BOF syndrome, in order to guide management. Copyright © 2012 Wiley Periodicals, Inc.

  2. Root canal treatment and special needs patients.

    Science.gov (United States)

    Yap, E; Parashos, P; Borromeo, G L

    2015-04-01

    To identify current trends of root canal treatment for patients with special needs. A postal questionnaire was sent to General Dentists in Victoria, Australia and Endodontists and Special Needs Dentists across Australia to determine the extent of root canal treatment performed on special needs patients. Over a four-month period, 1120 questionnaires were distributed with an overall response rate of 63.9% (n = 716). Response rates were 63.2% (n = 655), 68.5% (n = 50) and 100.0% (n = 11) amongst General Dentists, Endodontists and Special Needs Dentists, respectively. Endodontists (95.7%) and Special Needs Dentists (100.0%) performed significantly more root canal treatment on adult patients with special needs compared with 51.2% of General Dentists, (P special needs patients compared with only 29.7% of General Dentists (P special needs patients was more likely to be carried out by specialist dental practitioners who were more likely to utilize a pharmacological approach for behaviour guidance and to perform single-visit root canal treatment compared with General Dentists. A multidisciplinary approach for special needs patients who require root canal treatment provides an opportunity for these patients to retain their dentition. © 2014 International Endodontic Journal. Published by John Wiley & Sons Ltd.

  3. Aetiology, incidence and morphology of the C-shaped root canal system and its impact on clinical endodontics

    Science.gov (United States)

    Kato, A; Ziegler, A; Higuchi, N; Nakata, K; Nakamura, H; Ohno, N

    2014-01-01

    The C-shaped root canal constitutes an unusual root morphology that can be found primarily in mandibular second permanent molars. Due to the complexity of their structure, C-shaped root canal systems may complicate endodontic interventions. A thorough understanding of root canal morphology is therefore imperative for proper diagnosis and successful treatment. This review aims to summarize current knowledge regarding C-shaped roots and root canals, from basic morphology to advanced endodontic procedures. To this end, a systematic search was conducted using the MEDLINE, BIOSIS, Cochrane Library, EMBASE, Google Scholar, Web of Science, PLoS and BioMed Central databases, and many rarely cited articles were included. Furthermore, four interactive 3D models of extracted teeth are introduced that will allow for a better understanding of the complex C-shaped root canal morphology. In addition, the present publication includes an embedded best-practice video showing an exemplary root canal procedure on a tooth with a pronounced C-shaped root canal. The survey of this unusual structure concludes with a number of suggestions concerning future research efforts. PMID:24483229

  4. Efficacy and safety of two doses of Norditropin® (somatropin) in short stature due to Noonan syndrome: a 2-year randomized, double-blind, multicenter trial in Japanese patients.

    Science.gov (United States)

    Ozono, Keiichi; Ogata, Tsutomu; Horikawa, Reiko; Matsubara, Yoichi; Ogawa, Yoshihisa; Nishijima, Keiji; Yokoya, Susumu

    2018-02-26

    This randomized double-blind multicenter trial (NCT01927861) evaluated the growth-promoting effect and safety of Norditropin ® (NN220; somatropin) in Japanese children with short stature due to Noonan syndrome. Prepubertal children aged 3-Noonan syndrome were randomized to receive GH 0.033 mg/kg/day (n = 25, mean age 6.57 years, 11 females) or 0.066 mg/kg/day (n = 26, mean age 6.06 years, eight females) for 104 weeks. Change in height standard deviation score (HSDS) from baseline was analyzed based on an ANCOVA model. Baseline HSDS was -3.24. Estimated change in HSDS [95% CI] after 104 weeks' treatment was 0.84 [0.66, 1.02] and 1.47 [1.29, 1.64] for the lower and higher doses, respectively; estimated mean difference 0.63 [0.38, 0.88], p Noonan syndrome, with a favorable safety profile. The effect was greater with 0.066 mg/kg/day compared with 0.033 mg/kg/day.

  5. Gastric outlet obstruction due to adenocarcinoma in a patient with Ataxia-Telangiectasia syndrome: a case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Hammond Sue

    2009-03-01

    Full Text Available Abstract Background Ataxia-Telangiectasia syndrome is characterized by progressive cerebellar dysfunction, conjuctival and cutaneous telangiectasias, severe immune deficiencies, premature aging and predisposition to cancer. Clinical and radiographic evaluation for malignancy in ataxia-telangiectasia patients is usually atypical, leading to delays in diagnosis. Case presentation We report the case of a 20 year old ataxia-telangiectasia patient with gastric adenocarcinoma that presented as complete gastric outlet obstruction. Conclusion A literature search of adenocarcinoma associated with ataxia-telangiectasia revealed 6 cases. All patients presented with non-specific gastrointestinal complaints suggestive of ulcer disease. Although there was no correlation between immunoglobulin levels and development of gastric adenocarcinoma, the presence of chronic gastritis and intestinal metaplasia seem to lead to the development of gastric adenocarcinoma. One should consider adenocarcinoma in any patient with ataxia-telangiectasia who presents with non-specific gastrointestinal complaints, since this can lead to earlier diagnosis.

  6. A global amnesia associated with the specific variant of posterior reversible encephalopathy syndrome (PRES) that developed due to severe preeclampsia and malignant hypertension.

    Science.gov (United States)

    Borovac, Josip Anđelo; Božić, Joško; Žaja, Nikola; Kolić, Krešimir; Hrboka, Vedran

    2016-04-01

    A case is reported of a 26-year-old primiparous woman in the 32nd week of gestation who presented to the emergency department with the symptoms of a severe headache, nausea and vomiting. The patient was diagnosed with preeclampsia that later progressed to eclampsia. This state was characterized by a sudden onset of a headache and diplopia that advanced to cortical blindness and precipitated significant alterations in mental status, most notable being global amnesia that resolved within 48 h. A post-partum magnetic resonance imaging of the brain in FLAIR mode revealed multiple cortico-subcortical areas of hyperintense signals suggestive of edematous lesions that chiefly involved occipital and parietal lobes with additional atypical manifestations. Such radiologic findings suggested a posterior reversible encephalopathy syndrome variant with the global amnesia as an extraordinary constituent. This unique feature should be acknowledged when treating a preeclamptic or hypertensive patient that exhibits neurological symptomatology and vision disturbances.

  7. Bacteremia por Rhodococcus equi em paciente com síndrome da imunodeficiência adquirida: relato de caso Bacteremia due to Rhodococcus equi in a patient with acquired immunodeficiency syndrome: case report

    Directory of Open Access Journals (Sweden)

    Carina Secchi

    2006-12-01

    Full Text Available Rhodococcus equi é um importante agente de infecções zoonóticas, podendo causar sérias infecções em humanos, principalmente em pacientes imunocomprometidos. Neste estudo, nós relatamos o caso de uma bacteremia fatal devido a Rhodococcus equi em paciente com síndrome da imunodeficiência adquirida (HIV positivo.Rhodococcus equi is an important agent for zoonotic infections, and may cause serious infections in humans, especially immunocompromised patients. In this study, a case of fatal bacteremia due to Rhodococcus equi in a patient with acquired immunodeficiency syndrome (HIV positive is reported.

  8. Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs.

    Directory of Open Access Journals (Sweden)

    Thierry Olivry

    Full Text Available In humans, congenital and hereditary skin diseases associated with epidermal cell-cell separation (acantholysis are very rare, and spontaneous animal models of these diseases are exceptional. Our objectives are to report a novel congenital acantholytic dermatosis that developed in Chesapeake Bay retriever dogs. Nine affected puppies in four different litters were born to eight closely related clinically normal dogs. The disease transmission was consistent with an autosomal recessive mode of inheritance. Clinical signs occurred immediately after birth with superficial epidermal layers sloughing upon pressure. At three month of age, dogs exhibited recurrent superficial skin sloughing and erosions at areas of friction and mucocutaneous junctions; their coat was also finer than normal and there were patches of partial hair loss. At birth, histopathology revealed severe suprabasal acantholysis, which became less severe with ageing. Electron microscopy demonstrated a reduced number of partially formed desmosomes with detached and aggregated keratin intermediate filaments. Immunostaining for desmosomal adhesion molecules revealed a complete lack of staining for plakophilin-1 and anomalies in the distribution of desmoplakin and keratins 10 and 14. Sequencing revealed a homozygous splice donor site mutation within the first intron of PKP1 resulting in a premature stop codon, thereby explaining the inability to detect plakophilin-1 in the skin. Altogether, the clinical and pathological findings, along with the PKP1 mutation, were consistent with the diagnosis of ectodermal dysplasia-skin fragility syndrome with plakophilin-1 deficiency. This is the first occurrence of ectodermal dysplasia-skin fragility syndrome in an animal species. Controlled mating of carrier dogs would yield puppies that could, in theory, be tested for gene therapy of this rare but severe skin disease of children.

  9. Postmortem diagnosis of Marfan syndrome in a case of sudden death due to aortic rupture: Detection of a novel FBN1 frameshift mutation.

    Science.gov (United States)

    Wang, Yunyun; Chen, Shu; Wang, Rongshuai; Huang, Sizhe; Yang, Mingzhen; Liu, Liang; Liu, Qian

    2016-04-01

    To investigate the sudden death of a 36-year-old Chinese man, a medicolegal autopsy was performed, combining forensic pathological examinations and genetic sequencing analysis to diagnose the cause of death. Genomic DNA samples were extracted from blood and subjected to high-throughput sequencing. Major findings included a dilated aortic root with a ruptured and dissected aorta and consequent tamponade of the pericardial sac. Moreover, arachnodactyly and other skeletal deformities were noted. By sequencing the fibrillin-1 gene (FBN1), five genetic variations were found, including four previously known single nucleotide polymorphisms (SNPs) and a novel frameshift mutation, leading to the diagnosis of Marfan syndrome. The frameshift mutation (c.4921delG, p.glu1641llysFsX9) detected in exon 40 led to a stop codon after the next 8 amino acids. The four SNPs included a splice site mutation (c.3464-5 G>A, rs11853943), a synonymous mutation (p.Asn625Asn, rs25458), and two missense mutations (p.Pro1148Ala, rs140598; p.Cys472Tyr, rs4775765). Genetic screening was recommended for the relatives as it was reported that the father and brother of the deceased had died at the ages of 40 and 25, respectively, from sudden cardiac failure. The son of the deceased lacked the relevant mutations. This report emphasizes the important contribution of medicolegal postmortem analysis on the molecular pathogenesis study of Marfan syndrome and early diagnosis of at-risk relatives. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  10. Prader-Willi syndrome due to an unbalanced de novo translocation [t(15;19)(q12;p13.3)

    Science.gov (United States)

    Dang, Vy; Surampalli, Abhilasha; Manzardo, Ann M; Youn, Stephanie; Butler, Merlin G; Gold, June-Anne; Kimonis, Virginia

    2018-01-01

    Background and Aims Prader-Willi syndrome (PWS) is a complex, multisystem genetic disorder characterized by endocrine, neurologic and behavioral abnormalities. We report the first case of an unbalanced de-novo reciprocal translocation of chromosome 15 and 19: 45,XY,-15, der (19)t(15;19)(q12;p13.3) resulting in monosomy for the PWS chromosome critical region. We performed high resolution SNP microarray to characterize the breakpoints. Case report Our patient had several typical features for PWS including infantile hypotonia, a poor suck and feeding difficulties, tantrums, skin picking, compulsions, small hands and feet and food seeking but not hypopigmentation, a micropenis, cryptorchidism or obesity as common findings seen in PWS at the time of examination at 6 years of age. He had seizures noted from 1 to 3 years of age and marked cognitive delay. Results High resolution SNP microarray analysis identified an atypical PWS Type I deletion of chromosome 15 involving proximal breakpoint BP1. The deletion extended beyond the GABRB3 gene but was proximal to the usual distal breakpoint (BP3) within the 15q11-q13 region and GABRA5, GABRG3 and OCA2 genes were intact. Conclusion We report a case with atypical features for PWS associated with an unbalanced de-novo reciprocal translocation resulting in monosomy for the 15q11.1–15q12 with intact GABRA5, GABRG3 and OCA2 genes. No deletion of 19p13.3 band was detected therefore the patient was not at an increased risk of tumors from Peutz-Jeghers syndrome associated with a deletion of the STK11 gene. PMID:27894106

  11. Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review Retinopatia pigmentar devido a síndrome de Bardet-Biedl: relato de caso e revisão da literatura

    Directory of Open Access Journals (Sweden)

    Luis Jesuino de Oliveira Andrade

    2009-10-01

    Full Text Available Bardet-Biedl syndrome (BBS is a rare autosomal recessive disorder with clinical and genetic heterogeneity. This syndrome was first described by Laurence and Moon in 1866 and additional cases were described by Bardet and Biedl between 1920 and 1922. The main features are obesity, polydactyly, pigmentary retinopathy, learning disabilities, various degrees of intellectual impairment, hypogonadism, and renal abnormalities. Bardet-Biedl syndrome is both phenotypically and genetically heterogeneous. Clinical diagnosis is based on the presence of 4 of the 5 cardinal features. The authors present a typical case of pigmentary retinopathy due to Bardet-Biedl syndrome and made a brief commentary about the disease's cardinal manifestations.A síndrome de Bardet-Biedl (BBS é uma desordem autossômica recessiva rara, com heterogeneidade clínica e genética. Esta síndrome foi descrita pela primeira vez por Laurence e Moon em 1866 e outros casos foram descritos por Bardet e Biedl entre 1920 e 1922. As principais características são obesidade, polidactilia, retinopatia pigmentar, dificuldades de aprendizagem, graus de deficiência intelectual diversos, hipogonadismo e anomalias renais. Síndrome de Bardet-Biedl é fenotipicamente e geneticamente heterogêneos. O diagnóstico clínico baseia-se na presença de quatro dos cinco sinais principais da síndrome. Os autores apresentam um caso típico de retinopatia pigmentar devido à síndrome de Bardet-Biedl e fazem uma breve revisão sobre as manifestações da síndrome com especial atenção à retinopatia pigmentar.

  12. Computed tomography in lumbar canal stenosis

    International Nuclear Information System (INIS)

    Ohta, Shu; Baba, Itsushi; Ishida, Akihisa; Sumida, Tadayuki; Sasaki, Seishu

    1984-01-01

    Preoperative CT was done in 39 patients with lumbar canal stenosis. Marked symmetrical narrowing of the whole vertebral canal was seen in the group with nervous symptoms in the cauda equina. Deformed bilateral intervertebral joints were seen in the group with both nervous symptoms in the cauda equina and radicular sciatica. The lateral recess on the affected side was markedly narrowed by the projection of the upper and lower joints and herniation. In the group with radicular sciatica, the vertebral canal itself was not so narrowed, but the unilateral intervertebral joint was extremely deformed, causing a narrowing of the lateral recess. There were large differences in the angle of the left and right intervertebral joints. (Namekawa, K)

  13. Canal shaping of different single-file systems in curved root canals

    Directory of Open Access Journals (Sweden)

    Maurizio D'Amario

    2017-12-01

    Full Text Available Background/Purpose: This study compared maintenance of canal anatomy, occurrence of apical transportation, and working time observed after instrumentation with One Shape New Generation rotary system (Micro-Mega, with those observed after instrumentation with Reciproc (VDW and WaveOne (Dentsply-Maillefer reciprocating systems. Materials and methods: The mesial canals of 45 mandibular molars (curvature angles between 35° and 45° were selected. Specimens were randomly divided into three groups, and canal preparations were performed using One Shape, Reciproc, or WaveOne systems (size #25. A digital double radiographic technique was used to determine apical transportation and change in angle of curvature. Also, working time and instrument failures were recorded. Data were statistically analyzed. Results: During preparation, no file fractured. No statistically significant differences were found among groups. No system showed a significantly faster preparation time than others (P>0.05. All instruments maintained the original canal curvature well and were safe to use. Conclusion: Both continuous rotary instrument and reciprocating systems did not have any influence on the presence of apical transportation or caused an alteration in angle of canal curvature. Keywords: canal curvature, canal straightening, endodontics, reciprocating motion, single file instrumentation

  14. Decreased levels of matrix metalloproteinase-2 in root-canal exudates during root canal treatment.

    Science.gov (United States)

    Pattamapun, Kassara; Handagoon, Sira; Sastraruji, Thanapat; Gutmann, James L; Pavasant, Prasit; Krisanaprakornkit, Suttichai

    2017-10-01

    To determine the matrix metalloproteinase-2 (MMP-2) levels in root-canal exudates from teeth undergoing root-canal treatment. The root-canal exudates from six teeth with normal pulp and periradicular tissues that required intentional root canal treatment for prosthodontic reasons and from twelve teeth with pulp necrosis and asymptomatic apical periodontitis (AAP) were sampled with paper points for bacterial culture and aspirated for the detection of proMMP-2 and active MMP-2 by gelatin zymography and the quantification of MMP-2 levels by ELISA. By gelatin zymography, both proMMP-2 and active MMP-2 were detected in the first collection of root-canal exudates from teeth with pulp necrosis and AAP, but not from teeth with normal pulp, and their levels gradually decreased and disappeared at the last collection. Consistently, ELISA demonstrated a significant decrease in MMP-2 levels in the root-canal exudates of teeth with pulp necrosis and AAP following root canal procedures (papical lesions, similar to the clinical application of MMP-8 as a biomarker. Copyright © 2017 Elsevier Ltd. All rights reserved.

  15. Otolith and canal reflexes in human standing

    Science.gov (United States)

    Cathers, Ian; Day, Brian L; Fitzpatrick, Richard C

    2005-01-01

    We used galvanic vestibular stimulation (GVS) to identify human balance reflexes of the semicircular canals and otolith organs. The experiment used a model of vestibular signals arising from GVS modulation of the net signal from vestibular afferents. With the head upright, the model predicts that the GVS-evoked canal signal indicates lateral head rotation while the otolith signal indicates lateral tilt or acceleration. Both signify body sway transverse to the head. With the head bent forward, the model predicts that the canal signal indicates body spin about a vertical axis but the otolith signal still signifies lateral body motion. Thus, we compared electromyograms (EMG) in the leg muscles and body sway evoked by GVS when subjects stood with the head upright or bent forward. With the head upright, GVS evoked a large sway in the direction of the anodal electrode. This response was abolished with the head bent forward leaving only small, oppositely directed, transient responses at the start and end of the stimulus. With the head upright, GVS evoked short-latency (60–70 ms), followed by medium-latency (120 ms) EMG responses, of opposite polarity. Bending the head forward abolished the medium-latency but preserved the short-latency response. This is compatible with GVS evoking separate otolithic and canal reflexes, indicating that balance is controlled by independent canal and otolith reflexes, probably through different pathways. We propose that the short-latency reflex and small transient sway are driven by the otolith organs and the medium-latency response and the large sway are driven by the semicircular canals. PMID:15618274

  16. Assessment of the impact from transporting radioactive materials in the Suez Canal

    International Nuclear Information System (INIS)

    Sabek, G.

    1987-11-01

    A study in Egypt, carried out as the subject of an IAEA research contract, has used the INTERTRAN Code to provide an assessment of doses to handlers and the collective dose to the population, due to transport of radioactive material through the Suez Canal. Calculations were carried out using the data appropriate to the Canal, based on actual statistics and observations and default data built into the Code. The average collective dose per year was calculated to be 4.5 man rem and doses to handlers under normal transport conditions represented 97% of the total. Use of built-in default data gave results 10 6 times higher. 11 refs, 16 tabs

  17. Detection of Second Mesiobuccal Canals in Maxillary First Molars Using a New Angle of Cone Beam Computed Tomography.

    Science.gov (United States)

    Aktan, Ali Murat; Yildirim, Cihan; Culha, Emre; Demir, Erhan; Ertugrul Ciftci, Mehmet

    2016-10-01

    The localization of the additional canal orifice is one of the primary factors influencing the success of endodontic treatment. To deal with this problem, several techniques that each have their own advantages and disadvantages have been discussed in the literature. The aim of the present in vitro study was to review a new approach to localizing second mesiobuccal (MB2) canals in maxillary first molars using cone beam computed tomography (CBCT). The CBCT scans of 296 patients who were referred to the department of dentomaxillofacial radiology were included in the study. The presence of MB2 canals, the angle formed by the mesiobuccal, distobuccal, and palatal root canal orifices (∠MDP), and the angle formed by the mesiobuccal, distobuccal, and MB2 canal orifices (∠MDMB2) were evaluated on the axial section. Pearson correlation and multiple linear regression methods were used for all predictions. All of the analyses were performed using SPSS for windows version 22.0. A two-sided P value values, it was shown that the ∠MDMB2 increased by 0.420 degrees when the ∠MDP increased by 1 degree. If the ∠MDP was greater than 90.95 degrees, there was a 78% probability that MB2 canals could be found. The determination of the presence of MB2 in the maxillary first molars may be carried out using CBCT scans. If the ∠MDP was 91 degrees or greater, there was considered to be a higher probability that MB2 canals would be found in the endodontic cavity. Due to the positive correlation between the ∠MDP and the ∠MDMB2, the localization of MB2 canals may be easily performed in relation to the main MB canal.

  18. Accuracy of CBCT as modality to identify the presence of secondary mesiobuccal root canal in the maxillary first molar

    Directory of Open Access Journals (Sweden)

    Haikal Halil

    2017-11-01

    Full Text Available Introduction: A successful endodontic treatment requires the clinician to be able to locate, disinfect, and obturate all canals presence in the root canal system to remove the infection and prevent re-infection. However, there are canals that often missed upon examination and the treatment, for example, the secondary mesiobuccal (MB root canal. The success of locating these canals is determined by the methods used, for example, a periapical radiograph and Cone Beam Computed Tomography (CBCT. The purpose of this study was to examine the sensitivity and accuracy of the periapical radiograph (PA and CBCT on determining the presence of the secondary MB root canal. Methods: As much as 40 intact crown and intact radicular of the maxillary first molars, without root caries, root restoration, and endodontic treated, were taken as the samples. The presence of a secondary MB root canal was evaluated by a PA radiograph, CBCT and clinical sectioning. All of the samples were undergone each test and sectioned after being completed the radiographic evaluation steps. The results from each test were then documented and analyzed by using SPSS® version 16. Results: CBCT radiograph was successfully identifying 62.5% secondary MB root canal presence, whilst the PA radiograph has detected only 20% of the samples. The sensitivity of CBCT and PA radiograph was compared with the gold standard method, resulting 86.2% and 27.6% respectively. The statistical analysis showed that there was no significant difference between CBCT test and the gold standard (p=0.00. Conclusion: CBCT was proven to be a reliable method to detect the presence of secondary MB root canals due to its sensitivity and accuracy as high as the clinical sectioning compared to the PA radiograph.

  19. Frequency of enterococcus faecalis in saliva and root canals with treatment failure

    International Nuclear Information System (INIS)

    Khan, I.; Shan, T.; Manzoor, M.A.

    2015-01-01

    To compare the frequency of E. faecalis in the saliva and root canals of teeth associated with apical periodontitis due to endodontic treatment failure in the same patient. Study Design: Cross-sectional comparative study. Place and Duration of Study: Samples were collected from Operative Dentistry Department, AFID, while laboratory processing was done at AFIP, Rawalpindi. Study duration was one year. Patients and Methods: Fifty patients, both males and females with failed endodontic treatment were selected. Saliva and root canal samples were collected from each patient, inoculated on MacKonkey agar plate and incubated at 35-37 degree C for 48 hrs. E. faecalis colonies were identified by colony morphology, gramstain, catalase, bile asculin test, arabinose fermentation and growth in 6% NaCl nutrient broth. Results: The frequency of E. faecalis in saliva was 34% and in root canal it was 58%. Frequency between the presence of E. faecalis in root canals and saliva was found to be statistically different (p = 0.001). Conclusion: The presence of E. faecalis in root canal was not associated with their presence in saliva. (author)

  20. Frequency of enterococcus faecalis in saliva and root canals with treatment failure

    International Nuclear Information System (INIS)

    Shan, T.; Manzoor, M.A.; Hussain, W.

    2014-01-01

    To compare the frequency of E.faecalis in the saliva and root canals of teeth associated with apical periodontitis due to endodontic treatment failure Study. Design: Cross-sectional comparative. Place and Duration of Study: Samples were collected from Operative Dentistry department, AFID, while laboratory processing was done at AFIP, Rawalpindi. Duration of this study was one year. Patients and Method: Fifty patients, both males and females with failed endodontic treatment were selected. Saliva and root canal samples were collected from each patient, inoculated on MacKonkey agar plate and incubated at 35-370 C for 48 hours. E.faecalis colonies were identified by colony morphology, Gram stain, catalase, bile asculin test, arabinose fermentation and growth in 6% NaCl nutrient broth. Results: The frequency of E.faecalis in saliva was 34% and 58% in root canal samples. Frequency of the presence of E.faecalis in root canals and saliva was found to be statistically different (p=0.000). Conclusion: The presence of E.faecalis in root canal was not associated with their presence in saliva. (author)

  1. Incidence and characteristics of mandibular accessory canals: A radiographic investigation.

    Science.gov (United States)

    Borgonovo, Andrea Enrico; Taschieri, Silvio; Vavassori, Virna; Re, Dino; Francetti, Luca; Corbella, Stefano

    2017-11-01

    The aim of the present study was to explore, through tridimensional reconstructions of cone-beam computed tomography (CBCT) scans, the presence and the characteristics of mandibular accessory canals. For each included participant, the presence of accessory canals was recorded. The diameter of the canal, as well as the distance between the canal walls and the walls of the mandibular bone (lingual, buccal, cranial and caudal), were measured and recorded. Mandibular accessory canals could be found in 8.8% of participants. Retromolar canals were the most frequently found accessory mandibular canals. Accessory mandibular canals were found in a relatively high number of participants through the examination of CBCT scans and tridimensional reconstruction. The presence of such structures should be considered cautiously when planning and performing surgical interventions in mandibular area. © 2017 John Wiley & Sons Australia, Ltd.

  2. Radiographic versus electronic root canal working length determination

    Directory of Open Access Journals (Sweden)

    Lumnije Kqiku

    2011-01-01

    Conclusions: The present ex vivo study showed that electronic root canal working length determination is not superior to radiographic methods. Both methods provided a good performance in determining the root canal working length.

  3. Report from the Panama Canal Stakeholder Working Group.

    Science.gov (United States)

    2013-03-01

    This project assists the Texas Department of Transportation (TxDOT) in assessing the potential impacts of the Panama Canal expansion on Texas ports and the landside transportation system. TxDOT formed a Panama Canal Stakeholder Working Group (PCSWG) ...

  4. Shifts in species interactions due to the evolution of functional differences between endemics and non-endemics: an endemic syndrome hypothesis.

    Directory of Open Access Journals (Sweden)

    Courtney E Gorman

    Full Text Available Species ranges have been shifting since the Pleistocene, whereby fragmentation, isolation, and the subsequent reduction in gene flow have resulted in local adaptation of novel genotypes and the repeated evolution of endemic species. While there is a wide body of literature focused on understanding endemic species, very few studies empirically test whether or not the evolution of endemics results in unique function or ecological differences relative to their widespread congeners; in particular while controlling for environmental variation. Using a common garden composed of 15 Eucalyptus species within the subgenus Symphyomyrtus (9 endemic to Tasmania, 6 non-endemic, here we hypothesize and show that endemic species are functionally and ecologically different from non-endemics. Compared to non-endemics, endemic Eucalyptus species have a unique suite of functional plant traits that have extended effects on herbivores. We found that while endemics occupy many diverse habitats, they share similar functional traits potentially resulting in an endemic syndrome of traits. This study provides one of the first empirical datasets analyzing the functional differences between endemics and non-endemics in a common garden setting, and establishes a foundation for additional studies of endemic/non-endemic dynamics that will be essential for understanding global biodiversity in the midst of rapid species extinctions and range shifts as a consequence of global change.

  5. Familial Peters Plus syndrome with absent anal canal, sacral ...

    African Journals Online (AJOL)

    Rabah M. Shawky

    2013-07-23

    Jul 23, 2013 ... developmental delay, characteristic craniofacial features, and ... malities except for colostomy at the left iliac region. Neurolog- ... Visual evoked potential showed bilateral functioning ... Echocardiography, electroencephalogram and MRI brain ... kidney with the right ureter passing across the midline to the.

  6. Lumbar Vertebral Canal Diameters in Adult Ugandan Skeletons ...

    African Journals Online (AJOL)

    Background: Normal values of lumbar vertebral canal diameters are useful in facilitating diagnosis of lumbar vertebral canal stenosis. Various studies have established variation on values between different populations, gender, age, and ethnic groups. Objectives: To determine the lumbar vertebral canal diameters in adult ...

  7. Newer Root Canal Irrigants in Horizon: A Review

    Directory of Open Access Journals (Sweden)

    Sushma Jaju

    2011-01-01

    Full Text Available Sodium hypochloride is the most commonly used endodontic irrigant, despite limitations. None of the presently available root canal irrigants satisfy the requirements of ideal root canal irrigant. Newer root canal irrigants are studied for potential replacement of sodium hypochloride. This article reviews the potential irrigants with their advantages and limitations with their future in endodontic irrigation.

  8. Comparison of Curved Root Canals Prepared with Various Chelating Agents

    Science.gov (United States)

    2012-06-01

    aqueous base (11). According to Bramante and Betti, instrumentation with NiTi hand files using EDTA caused greater deviation of the root canal from...15. Peters OA, Peters CI, Schonenberger K, Barbakow F. ProTaper rotary root canal preparation: effects of canal anatomy on final shape analysed by

  9. Middle mesial canals in mandibular molars: incidence and related factors.

    Science.gov (United States)

    Nosrat, Ali; Deschenes, Raney J; Tordik, Patricia A; Hicks, M Lamar; Fouad, Ashraf F

    2015-01-01

    Although the internal anatomy of mandibular molars has been extensively studied, information about middle mesial (MM) canals is limited. The primary aim of this retrospective study was to evaluate the incidence of MM canals in mandibular first and second molars. The secondary aim was to correlate the incidence of MM canals with variables of molar type, sex, age, ethnicity, and presence of a second distal canal. All mature permanent first and second mandibular molars treated from August 2012 to May 2014 were included in the analysis. After completion of root canal instrumentation in all main canals, the clinician inspected the isthmus area of the mesial root using the dental operating microscope. If there was a catch point in this area with a file or explorer, the operator spent more time attempting to negotiate an MM canal. Seventy-five mandibular first and second molars were treated during the specified period. Fifteen (20%) teeth had negotiable MM canals. The incidence of MM canals was 32.1% in patients ≤ 20 years old, 23.8% in patients 21-40 years old, and 3.8% in patients > 40 years. Analysis of data revealed a significant difference in the distribution of MM canals among different age groups (P molar type, and presence of a second distal canal were not significant. The incidence of negotiable MM canals overall and their frequency of identification in younger patients were higher than in previous reports. Copyright © 2015 American Association of Endodontists. Published by Elsevier Inc. All rights reserved.

  10. 21 CFR 872.3820 - Root canal filling resin.

    Science.gov (United States)

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Root canal filling resin. 872.3820 Section 872...) MEDICAL DEVICES DENTAL DEVICES Prosthetic Devices § 872.3820 Root canal filling resin. (a) Identification. A root canal filling resin is a device composed of material, such as methylmethacrylate, intended...

  11. Esophageal carcinoma extending into the spinal canal - case report and review of the literature

    International Nuclear Information System (INIS)

    Urban, Linei A.B.D.; Rogacheski, Enio; Ledesma, Jorge A.; Zaparolli, Mauricio; Duarte, Maria Cecilia B.; Sakamoto, Danielle G.

    2002-01-01

    The authors report the case of a 62-year-old male with a 4 month history of weight loss and a 2 day complaint of weakness and paraesthesia on the lower limbs. A computed tomography myelogram revealed a mass in the posterior mediastinum associated with destruction of the vertebral body, spinal canal extension and irregular esophageal wall thickening. The patient was later submitted to a barium esophagogram that showed an irregular filling defect. A biopsy confirmed the presence of a squamous cell carcinoma. This is the first report in the Latin-American literature (Lilacs) of a patient with an esophageal carcinoma with spinal canal extension and spinal cord compression syndrome at initial presentation. (author)

  12. Incidence of dehiscence of the bony roof of the superior semicircular canal by CT imaging

    International Nuclear Information System (INIS)

    Watanabe, Akira

    2003-01-01

    Dehiscence of the bony roof of the superior semicircular canal (SSCC) is rare, but it has been recognized by otologists since Minor et al first described superior canal dehiscence syndrome (SCDS). In this study, dehiscence of the bony roof of SSCC was incidentally detected in three patients with benign paroxysmal positional vertigo out of 49 serial patients with vertigo and dizziness by multi-slice computed tomography. Although detection of dehiscence of the SSCC by ultra-high-resolution CT imaging of the temporal bones has been required for a diagnosis of SCDS, this study showed that dehiscence of the bony roof of the SSCC can be an incidental finding and therefore is not specific for SCDS. (author)

  13. Nerve canals at the fundus of the internal auditory canal on high-resolution temporal bone CT

    International Nuclear Information System (INIS)

    Ji, Yoon Ha; Youn, Eun Kyung; Kim, Seung Chul

    2001-01-01

    To identify and evaluate the normal anatomy of nerve canals in the fundus of the internal auditory canal which can be visualized on high-resolution temporal bone CT. We retrospectively reviewed high-resolution (1 mm thickness and interval contiguous scan) temporal bone CT images of 253 ears in 150 patients who had not suffered trauma or undergone surgery. Those with a history of uncomplicated inflammatory disease were included, but those with symptoms of vertigo, sensorineural hearing loss, or facial nerve palsy were excluded. Three radiologists determined the detectability and location of canals for the labyrinthine segment of the facial, superior vestibular and cochlear nerve, and the saccular branch and posterior ampullary nerve of the inferior vestibular nerve. Five bony canals in the fundus of the internal auditory canal were identified as nerve canals. Four canals were identified on axial CT images in 100% of cases; the so-called singular canal was identified in only 68%. On coronal CT images, canals for the labyrinthine segment of the facial and superior vestibular nerve were seen in 100% of cases, but those for the cochlear nerve, the saccular branch of the inferior vestibular nerve, and the singular canal were seen in 90.1%, 87.4% and 78% of cases, respectiveIy. In all detectable cases, the canal for the labyrinthine segment of the facial nerve was revealed as one which traversed anterolateralIy, from the anterosuperior portion of the fundus of the internal auditory canal. The canal for the cochlear nerve was located just below that for the labyrinthine segment of the facial nerve, while that canal for the superior vestibular nerve was seen at the posterior aspect of these two canals. The canal for the saccular branch of the inferior vestibular nerve was located just below the canal for the superior vestibular nerve, and that for the posterior ampullary nerve, the so-called singular canal, ran laterally or posteolateralIy from the posteroinferior aspect of

  14. Nerve canals at the fundus of the internal auditory canal on high-resolution temporal bone CT

    Energy Technology Data Exchange (ETDEWEB)

    Ji, Yoon Ha; Youn, Eun Kyung; Kim, Seung Chul [Sungkyunkwan Univ., School of Medicine, Seoul (Korea, Republic of)

    2001-12-01

    To identify and evaluate the normal anatomy of nerve canals in the fundus of the internal auditory canal which can be visualized on high-resolution temporal bone CT. We retrospectively reviewed high-resolution (1 mm thickness and interval contiguous scan) temporal bone CT images of 253 ears in 150 patients who had not suffered trauma or undergone surgery. Those with a history of uncomplicated inflammatory disease were included, but those with symptoms of vertigo, sensorineural hearing loss, or facial nerve palsy were excluded. Three radiologists determined the detectability and location of canals for the labyrinthine segment of the facial, superior vestibular and cochlear nerve, and the saccular branch and posterior ampullary nerve of the inferior vestibular nerve. Five bony canals in the fundus of the internal auditory canal were identified as nerve canals. Four canals were identified on axial CT images in 100% of cases; the so-called singular canal was identified in only 68%. On coronal CT images, canals for the labyrinthine segment of the facial and superior vestibular nerve were seen in 100% of cases, but those for the cochlear nerve, the saccular branch of the inferior vestibular nerve, and the singular canal were seen in 90.1%, 87.4% and 78% of cases, respectiveIy. In all detectable cases, the canal for the labyrinthine segment of the facial nerve was revealed as one which traversed anterolateralIy, from the anterosuperior portion of the fundus of the internal auditory canal. The canal for the cochlear nerve was located just below that for the labyrinthine segment of the facial nerve, while that canal for the superior vestibular nerve was seen at the posterior aspect of these two canals. The canal for the saccular branch of the inferior vestibular nerve was located just below the canal for the superior vestibular nerve, and that for the posterior ampullary nerve, the so-called singular canal, ran laterally or posteolateralIy from the posteroinferior aspect of

  15. Periapical repair after root canal filling with different root canal sealers.

    Science.gov (United States)

    Tanomaru-Filho, Mário; Tanomaru, Juliane Maria Guerreiro; Leonardo, Mario Roberto; da Silva, Lea Assed Bezerra

    2009-01-01

    The aim of this study was to evaluate periapical repair after root canal filling with different endodontic sealers. Sixty-four root canals from dog s teeth were filled, divided into 4 groups (n=16). Root canals were instrumented with K-type files and irrigated with 1% sodium hypochlorite solution. Root canals were filled in the same session by active lateral condensation of the cones and sealers: Intrafill, AH Plus, Roeko Seal and Resilon/Epiphany System. After 90 days, the animals were euthanized and the tissues to be evaluated were processed and stained with hematoxylin and eosin. For histopathological analysis, the following parameters were evaluated: inflammatory process, mineralized tissue resorption, and apical mineralized tissue deposition. Histopathological analysis demonstrated that Intrafill had less favorable results in terms of apical and periapical repair, compared to the other sealers (p0.05). In conclusion, AH Plus and the materials Roeko Seal and Epiphany are good options for clinical use in Endodontics.

  16. Study of seepage losses from irrigation canals using radioactive tracer technique

    International Nuclear Information System (INIS)

    Ahmad, M.; Tariq, J.A.; Rashid, A.; Rafiq, M.; Iqbal, N.

    2004-06-01

    Pakistan has an intricate irrigation system comprising a huge network of canals. A significant fraction of water in irrigation canals is lost through seepage, which is further responsible for water logging and salinity in some areas. Government is considering lining of irrigation canals to overcome this twin menace. Due to involvement of huge costs, highly pervious sections where the seepage rate is appreciably high, are needed to be identified for planning and execution of remedial actions to eliminate or minimize seepage losses. The conventional methods of measuring seepage rate from canals are limited to 'ponding' and 'inflow-outflow' methods. The ponding method is usually restricted to small canals because of the costly bulkheads and water requirement, unaffordable closure of canal, non representation of the line source and variation in the rate of seepage loss with time due to the sealing effects of fine sediments settling out. Inaccurate measurement of discharge under field conditions and complication due to diversion do not favour the inflow-outflow method. It is believed that the analytical methods represent the most accurate and convenient means of determining seepage values using accurate insitu hydraulic conductivity of the subsoil determined by radiotracer, geometry of the canal and position of the groundwater. As a practical application, radiotracer experiments were carried out at Rakh branch canal near Sukhiki, District Hafizabad (Punjab) to determine groundwater filtration velocity by single well point dilution technique using Technetium-99m (sup 99m/Tc) radioactive tracer, Hydraulic conductivity (determined from filtration velocity and hydraulic gradient) and canal parameters were used in the parametric equation of parachute curve to estimate the seepage rate. The average seepage rate was 4.05 cubic meter per day per meter length of the canal (equivalent to 3.795 cusec per million square feet or 1.157 cumec per second per million square meter of

  17. Standardization of androstenedione and estrone radioimmunoassay and profile of sex steroids, gonadotropins and prolactin - in patients with chronic anovulation due to inappropriate feedback (polycystic ovarian syndrome)

    International Nuclear Information System (INIS)

    Vilanova, Maria do Socorro Veras

    1992-01-01

    Full text. In order to evaluate the profile of the sex steroids gonadotropin and prolactin in polycystic ovarian syndrome (POS), 24 patients with POS were studied and compared with 20 normal women during the early follicular phase of the menstrual cycle. Radioimmunoassay techniques for androstenedione (A) and estrone (E 1 ) were standardized for the purpose of the study. Androstenedione and estrone were extracted from plasma with ethyl ether. The assays were maintained in equilibrium and the labelled hormone-antibody complex was then separated from the free hormone using dextran charcoal. The sensitivity of the method was 6.8 pg/tube for A and 3.7 pg/tube for E 1 . Nonspecific binding ws 3.4 for A and 3.3 for E 1 . The interessay error at the D50 level was 15.6 for A and 8.6 for E 1 . Patients with POS had significantly higher basal levels of LH, A, T E 1 and PRL and similar FSH and DHEA-S levels when compared with normal women. The LH/FSH ratio was significantly elevated and the A/T ratio was significantly decreased. The A/E 1 and T/E 2 ratios were elevated and the E 1 /E 2 was decreased, although the differences were not statistically significant. A positive correlation between A and E 1 was observed in patients with POS. In view of the above data, it was concluded that: the quality control parameters of the radioimmunoassay for A and E 1 standardized in the present study are considered satisfactory, and the assay could be used for diagnosis and research; the patients with POS have a different sex steroid and gonadotropin profile when compared normal women during the early follicular phase of the menstrual cycle

  18. Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4 due to PTRF-CAVIN mutations.

    Directory of Open Access Journals (Sweden)

    Anna Rajab

    2010-03-01

    Full Text Available We investigated eight families with a novel subtype of congenital generalized lipodystrophy (CGL4 of whom five members had died from sudden cardiac death during their teenage years. ECG studies revealed features of long-QT syndrome, bradycardia, as well as supraventricular and ventricular tachycardias. Further symptoms comprised myopathy with muscle rippling, skeletal as well as smooth-muscle hypertrophy, leading to impaired gastrointestinal motility and hypertrophic pyloric stenosis in some children. Additionally, we found impaired bone formation with osteopenia, osteoporosis, and atlanto-axial instability. Homozygosity mapping located the gene within 2 Mbp on chromosome 17. Prioritization of 74 candidate genes with GeneDistiller for high expression in muscle and adipocytes suggested PTRF-CAVIN (Polymerase I and transcript release factor/Cavin as the most probable candidate leading to the detection of homozygous mutations (c.160delG, c.362dupT. PTRF-CAVIN is essential for caveolae biogenesis. These cholesterol-rich plasmalemmal vesicles are involved in signal-transduction and vesicular trafficking and reside primarily on adipocytes, myocytes, and osteoblasts. Absence of PTRF-CAVIN did not influence abundance of its binding partner caveolin-1 and caveolin-3. In patient fibroblasts, however, caveolin-1 failed to localize toward the cell surface and electron microscopy revealed reduction of caveolae to less than 3%. Transfection of full-length PTRF-CAVIN reestablished the presence of caveolae. The loss of caveolae was confirmed by Atomic Force Microscopy (AFM in combination with fluorescent imaging. PTRF-CAVIN deficiency thus presents the phenotypic spectrum caused by a quintessential lack of functional caveolae.

  19. Cost-effectiveness of exercise therapy after corticosteroid injection for moderate to severe shoulder pain due to subacromial impingement syndrome: a trial-based analysis.

    Science.gov (United States)

    Jowett, Sue; Crawshaw, Dickon P; Helliwell, Philip S; Hensor, Elizabeth M A; Hay, Elaine M; Conaghan, Philip G

    2013-08-01

    To perform a cost-effectiveness analysis of subacromial corticosteroid injection combined with exercise compared with exercise alone in patients with moderate to severe shoulder pain from subacromial impingement syndrome. A within-trial cost-effectiveness analysis with 232 patients randomized to physiotherapy-led injection combined with exercise (n = 115) or exercise alone (n = 117). The analysis was from a health care perspective with 24-week follow-up. Resource use information was collected from all patients on interventions, medication, primary and secondary care contacts, private health care use and over-the-counter purchases. The measure of outcome was quality-adjusted life years (QALYs), calculated from EQ-5D responses at baseline and three further time points. An incremental cost-effectiveness analysis was conducted. Mean per patient NHS costs (£255 vs £297) and overall health care costs (£261 vs £318) were lower in the injection plus exercise arm, but this difference was not statistically significant. Total QALYs gained were very similar in the two trial arms (0.3514 vs 0.3494 QALYs), although slightly higher in the injection plus exercise arm, indicating that injection plus exercise may be the dominant treatment option. At a willingness to pay of £20,000 per additional QALY gained, there was a 61% probability that injection plus exercise was the most cost-effective option. Injection plus exercise delivered by therapists may be a cost-effective use of resources compared with exercise alone and lead to lower health care costs and less time off work. International Standard Randomised Controlled Trial Number Register, http://www.controlled-trials.com/isrctn/, ISRCT 25817033.

  20. The Suez Canal and the petroleum harbors

    International Nuclear Information System (INIS)

    Anon.

    1997-01-01

    The Suez Canal is the second longest channel in the world and allows to save 60% of the travel time between the petroleum harbors of the Arabic peninsula and Europe. This short paper gives a summary of the main petroleum harbors activity along the channel from the Red sea to the Mediterranean sea. (J.S.)

  1. Magnetic resonance imaging of semicircular canals.

    Science.gov (United States)

    Sbarbati, A; Leclercq, F; Zancanaro, C; Antonakis, K

    1992-01-01

    The present paper reports the results of the first investigation of the semicircular canals in a living, small animal by means of high spatial resolution magnetic resonance imaging. This procedure is noninvasive and allows identification of the endolymphatic and perilymphatic spaces yielding a morphology quite consistent with direct anatomical examination. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 PMID:1506290

  2. Note on Tendipedidae of the Suez Canal

    NARCIS (Netherlands)

    Kruseman, G.

    1949-01-01

    Mr. A. C. V. VAN BEMMEL and Dr. A. DIAKONOFF of the Buitenzorg Museum (Java) collected Tendipedidae, which were attracted by artificial lights, when they passed the Suez Canal on 8-XI-1937 and 16-V-1939 respectively. This very interesting collection, containing some new species, was sent to me for

  3. The crazy project – Canal Istanbul

    Directory of Open Access Journals (Sweden)

    Seda Kundak

    2011-10-01

    Full Text Available It was late April 2011 when “the Crazy Project - Canal Istanbul” was proposed by the Prime Minister of Turkey, during his election campaign.  Although the idea of an artificial canal is not new, since it is initiated without any consensus between the people and institutions in Istanbul, the project immediately set a large number of debates. These vary from the legitimacy of decentralization of governance, to potential impacts of the canal on international politics, economy, environment and urban life.  Regarding past infrastructure projects in Istanbul, such large scale investments have caused extensive acceleration in construction sector in one hand and social and economic shifts on the other.  In this paper, the Canal Istanbul Project is evaluated according to basic motivations and claims of the PM, multi-perspective view through challenges and limitation that the project is likely to face with and speculations on implementation approach. The final discussion on the project is based on benefits/losses of Istanbul once the project will be implemented.

  4. Anatomic study on mental canal and incisive nerve canal in interforaminal region in Chinese population.

    Science.gov (United States)

    Xu, Yun; Suo, Ning; Tian, Xiufen; Li, Fei; Zhong, Guangxin; Liu, Xiaoran; Bao, Yongxing; Song, Tao; Tian, Hua

    2015-08-01

    This study was aimed to detect the positions of mental canal and incisive nerve canal as well as the prolongation of mandibular canal in interforaminal region in Chinese population to supply the reference data of the surgical safe zone in chin for clinicians. A total of 80 formalin-fixed semi-mandibles of Chinese adult cadavers were dissected, the positions and courses of mental canal and incisive nerve canal as well as the prolongation of mandibular canal in interforaminal region were measured. The mental foramina were present in all cases (100 %), and most of them were located below 2nd premolar (58.75 %). Accessory mental foramina were observed in 5 %. The anterior end of mandibular canal, extending along the course of 7.37 ± 1.10 mm above the lower border of mandible to interforaminal region about 3.54 ± 0.70 mm medial to the mental foramen, most often ended below between the two premolars (73.75 %), where it continued as the incisive nerve canal (100 %) and the mental canal (96.25 %). Mental canal, with the wall formed by compact bone, being 2.60 ± 0.60 mm in diameter and 4.01 ± 1.20 mm in length, opened into mental foramen. Incisive nerve canal, with the wall formed by thin compact bone and/or partly or completely by spongy bone, being 1.76 ± 0.27 mm in diameter and 24.87 ± 2.23 mm in length, extended to the incisor region along the course of 9.53 ± 1.43 mm above the lower border of mandible, and most often ended below the lateral incisor (70.00 %). This research recommended for chin operations in Chinese population: the surgical safe zone could be set in the region about over 4 mm anterior to the mental foramen, and over 12 mm above inferior border of mandible for anterior alveolar surgery, or within 9 mm above inferior border of mandible for genioplasty.

  5. Concomitant occurrence of cochleosaccular dysplasia and Down's syndrome.

    Science.gov (United States)

    Walby, A P; Schuknecht, H F

    1984-07-01

    Inherited cochleosaccular dysplasia occurred in a woman coincidentally with Down's syndrome. Study of the right temporal bone revealed abnormalities of the cochlea and saccule consistent with Scheibe 's original description. There was also a short cochlea and small lateral semicircular canal consistent with previous descriptions of Down's syndrome.

  6. Eagle's Syndrome

    OpenAIRE

    Pinheiro,Thaís Gonçalves; Soares,Vítor Yamashiro Rocha; Ferreira,Denise Bastos Lage; Raymundo,Igor Teixeira; Nascimento,Luiz Augusto; Oliveira,Carlos Augusto Costa Pires de

    2013-01-01

    Summary 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 diffic...

  7. MR determination of neonatal spinal canal depth.

    Science.gov (United States)

    Arthurs, Owen; Thayyil, Sudhin; Wade, Angie; Chong, W K Kling; Sebire, Neil J; Taylor, Andrew M

    2012-08-01

    Lumbar punctures (LPs) are frequently performed in neonates and often result in traumatic haemorrhagic taps. Knowledge of the distance from the skin to the middle of the spinal canal (mid-spinal canal depth - MSCD) may reduce the incidence of traumatic taps, but there is little data in extremely premature or low birth weight neonates. Here, we determined the spinal canal depth at post-mortem in perinatal deaths using magnetic resonance imaging (MRI). Spinal canal depth was measured in 78 post-mortem foetuses and perinatal cases (mean gestation 26 weeks; mean weight 1.04kg) at the L3/L4 inter-vertebral space at post-mortem MRI. Both anterior (ASCD) and posterior (PSCD) spinal canal depth were measured; MSCD was calculated and modelled against weight and gestational age. ASCD and PSCD (mm) correlated significantly with weight and gestational age (all r>0.8). A simple linear model MSCD (mm)=3×Weight (kg)+5 was the best fit, identifying an SCD value within the correct range for 87.2% (68/78) (95% CI (78.0, 92.9%)) cases. Gestational age did not add significantly to the predictive value of the model. There is a significant correlation between MSCD and body weight at post-mortem MRI in foetuses and perinatal deaths. If this association holds in preterm neonates, use of the formula MSCD (mm)=3×Weight (kg)+5 could result in fewer traumatic LPs in this population. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  8. MR determination of neonatal spinal canal depth

    Energy Technology Data Exchange (ETDEWEB)

    Arthurs, Owen, E-mail: owenarthurs@uk2.net [Centre for Cardiovascular MR, Great Ormond Street Hospital for Children, London WC1N 3JH (United Kingdom); Thayyil, Sudhin, E-mail: s.thayyil@ucl.ac.uk [Academic Neonatology, Institute for Women' s Health, London WC1E 6AU (United Kingdom); Wade, Angie, E-mail: a.wade@ucl.ac.uk [Centre for Paediatric Epidemiology and Biostatistics, UCL Institute of Child Health, London (United Kingdom); Chong, W.K., E-mail: Kling.Chong@gosh.nhs.uk [Paediatric Neuroradiology, Great Ormond Street Hospital for Children, London (United Kingdom); Sebire, Neil J., E-mail: Neil.Sebire@gosh.nhs.uk [Histopathology, Great Ormond Street Hospital for Children, London WC1E 6AU (United Kingdom); Taylor, Andrew M., E-mail: a.taylor76@ucl.ac.uk [Centre for Cardiovascular MR, Cardiorespiratory Unit, Great Ormond Street Hospital for Children and UCL Institute of Cardiovascular Science, London WC1E 6AU (United Kingdom)

    2012-08-15

    Objectives: Lumbar punctures (LPs) are frequently performed in neonates and often result in traumatic haemorrhagic taps. Knowledge of the distance from the skin to the middle of the spinal canal (mid-spinal canal depth - MSCD) may reduce the incidence of traumatic taps, but there is little data in extremely premature or low birth weight neonates. Here, we determined the spinal canal depth at post-mortem in perinatal deaths using magnetic resonance imaging (MRI). Patients and methods: Spinal canal depth was measured in 78 post-mortem foetuses and perinatal cases (mean gestation 26 weeks; mean weight 1.04 kg) at the L3/L4 inter-vertebral space at post-mortem MRI. Both anterior (ASCD) and posterior (PSCD) spinal canal depth were measured; MSCD was calculated and modelled against weight and gestational age. Results: ASCD and PSCD (mm) correlated significantly with weight and gestational age (all r > 0.8). A simple linear model MSCD (mm) = 3 Multiplication-Sign Weight (kg) + 5 was the best fit, identifying an SCD value within the correct range for 87.2% (68/78) (95% CI (78.0, 92.9%)) cases. Gestational age did not add significantly to the predictive value of the model. Conclusion: There is a significant correlation between MSCD and body weight at post-mortem MRI in foetuses and perinatal deaths. If this association holds in preterm neonates, use of the formula MSCD (mm) = 3 Multiplication-Sign Weight (kg) + 5 could result in fewer traumatic LPs in this population.

  9. Anomalous facial nerve canal with cochlear malformations.

    Science.gov (United States)

    Romo, L V; Curtin, H D

    2001-05-01

    Anteromedial "migration" of the first segment of the facial nerve canal has been previously identified in a patient with a non-Mondini-type cochlear malformation. In this study, several patients with the same facial nerve canal anomaly were reviewed to assess for the association and type of cochlear malformation. CT scans of the temporal bone of 15 patients with anteromedial migration of the first segment of the facial nerve canal were collected from routine departmental examinations. In seven patients, the anomalous course was bilateral, for a total of 22 cases. The migration was graded relative to normal as either mild/moderate or pronounced. The cochlea in each of these cases was examined for the presence and size of the basilar, second, and apical turns. The turns were either absent, small, normal, or enlarged. The CT scans of five patients with eight Mondini malformations were examined for comparison. The degree of the facial nerve migration was pronounced in nine cases and mild/moderate in 13. All 22 of these cases had associated cochlear abnormalities of the non-Mondini variety. These included common cavity anomalies with lack of definition between the cochlea and vestibule (five cases), cochleae with enlarged basilar turns and absent second or third turns (five cases), and cochleae with small or normal basilar turns with small or absent second or third turns (12 cases). None of the patients with Mondini-type cochlear malformations had anteromedial migration of the facial nerve canal. Anteromedial migration of the facial nerve canal occurs in association with some cochlear malformations. It did not occur in association with the Mondini malformations. A cochlea with a Mondini malformation, being similar in size to a normal cochlea, may physically prohibit such a deviation in course.

  10. Cervical spinal canal narrowing in idiopathic syringomyelia

    International Nuclear Information System (INIS)

    Struck, Aaron F.; Carr, Carrie M.; Shah, Vinil; Hesselink, John R.; Haughton, Victor M.

    2016-01-01

    The cervical spine in Chiari I patient with syringomyelia has significantly different anteroposterior diameters than it does in Chiari I patients without syringomyelia. We tested the hypothesis that patients with idiopathic syringomyelia (IS) also have abnormal cervical spinal canal diameters. The finding in both groups may relate to the pathogenesis of syringomyelia. Local institutional review boards approved this retrospective study. Patients with IS were compared to age-matched controls with normal sagittal spine MR. All subjects had T1-weighted spin-echo (500/20) and T2-weighted fast spin-echo (2000/90) sagittal cervical spine images at 1.5 T. Readers blinded to demographic data and study hypothesis measured anteroposterior diameters at each cervical level. The spinal canal diameters were compared with a Mann-Whitney U test. The overall difference was assessed with a Friedman test. Seventeen subjects were read by two reviewers to assess inter-rater reliability. Fifty IS patients with 50 age-matched controls were studied. IS subjects had one or more syrinxes varying from 1 to 19 spinal segments. Spinal canal diameters narrowed from C1 to C3 and then enlarged from C5 to C7 in both groups. Diameters from C2 to C4 were narrower in the IS group (p < 0.005) than in controls. The ratio of the C3 to the C7 diameters was also smaller (p = 0.004) in IS than controls. Collectively, the spinal canal diameters in the IS were significantly different from controls (Friedman test p < 0.0001). Patients with IS have abnormally narrow upper and mid cervical spinal canal diameters and greater positive tapering between C3 and C7. (orig.)

  11. Cervical spinal canal narrowing in idiopathic syringomyelia

    Energy Technology Data Exchange (ETDEWEB)

    Struck, Aaron F. [Massachusetts General Hospital, Department of Neurology, Boston, MA (United States); Carr, Carrie M. [Mayo Clinic, Department of Radiology, Rochester, MN (United States); Shah, Vinil [University of California San Francisco, Department of Radiology, San Francisco, CA (United States); Hesselink, John R. [University of California San Diego, Department of Radiology, San Diego, CA (United States); Haughton, Victor M. [University of Wisconsin, Department of Radiology, Madison, WI (United States)

    2016-08-15

    The cervical spine in Chiari I patient with syringomyelia has significantly different anteroposterior diameters than it does in Chiari I patients without syringomyelia. We tested the hypothesis that patients with idiopathic syringomyelia (IS) also have abnormal cervical spinal canal diameters. The finding in both groups may relate to the pathogenesis of syringomyelia. Local institutional review boards approved this retrospective study. Patients with IS were compared to age-matched controls with normal sagittal spine MR. All subjects had T1-weighted spin-echo (500/20) and T2-weighted fast spin-echo (2000/90) sagittal cervical spine images at 1.5 T. Readers blinded to demographic data and study hypothesis measured anteroposterior diameters at each cervical level. The spinal canal diameters were compared with a Mann-Whitney U test. The overall difference was assessed with a Friedman test. Seventeen subjects were read by two reviewers to assess inter-rater reliability. Fifty IS patients with 50 age-matched controls were studied. IS subjects had one or more syrinxes varying from 1 to 19 spinal segments. Spinal canal diameters narrowed from C1 to C3 and then enlarged from C5 to C7 in both groups. Diameters from C2 to C4 were narrower in the IS group (p < 0.005) than in controls. The ratio of the C3 to the C7 diameters was also smaller (p = 0.004) in IS than controls. Collectively, the spinal canal diameters in the IS were significantly different from controls (Friedman test p < 0.0001). Patients with IS have abnormally narrow upper and mid cervical spinal canal diameters and greater positive tapering between C3 and C7. (orig.)

  12. Development of Rating Curve Estimators for Suspended-Sediment Concentration and Transport in the C-51 Canal Based on Surrogate Technology, Palm Beach County, Florida, 2004-05

    National Research Council Canada - National Science Library

    Lietz, A. C; Debiak, Elizabeth A

    2005-01-01

    .... The major cause of these sediment deposits most likely is due to stormwater heavily laden with fluvial sediment, discharging through the S-155 control structure on the West Palm Beach (C-51) Canal...

  13. Altered pathogenesis of porcine respiratory coronavirus in pigs due to immunosuppressive effects of dexamethasone: implications for corticosteroid use in treatment of severe acute respiratory syndrome coronavirus.

    Science.gov (United States)

    Jung, Kwonil; Alekseev, Konstantin P; Zhang, Xinsheng; Cheon, Doo-Sung; Vlasova, Anastasia N; Saif, Linda J

    2007-12-01

    The pathogenesis and optimal treatments for severe acute respiratory syndrome (SARS) are unclear, although corticosteroids were used to reduce lung and systemic inflammation. Because the pulmonary pathology of porcine respiratory coronavirus (PRCV) in pigs resembles SARS, we used PRCV as a model to clarify the effects of the corticosteroid dexamethasone (DEX) on coronavirus (CoV)-induced pneumonia. Conventional weaned pigs (n = 130) in one of four groups (PRCV/phosphate-buffered saline [PBS] [n = 41], PRCV/DEX [n = 41], mock/PBS [n = 23], and mock/DEX [n = 25]) were inoculated intranasally and intratracheally with the ISU-1 strain of PRCV (1 x 10(7) PFU) or cell culture medium. DEX was administered (once daily, 2 mg/kg of body weight/day, intramuscularly) from postinoculation day (PID) 1 to 6. In PRCV/DEX pigs, significantly milder pneumonia, fewer PRCV-positive cells, and lower viral RNA titers were present in lungs early at PID 2; however, at PID 4, 10, and 21, severe bronchointerstitial pneumonia, significantly higher numbers of PRCV-positive cells, and higher viral RNA titers were observed compared to results for PRCV/PBS pigs. Significantly lower numbers of CD2(+), CD3(+), CD4(+), and CD8(+) T cells were also observed in lungs of PRCV/DEX pigs than in those of PRCV/PBS pigs at PID 8 and 10, coincident with fewer gamma interferon (IFN-gamma)-secreting cells in the tracheobronchial lymph nodes as determined by enzyme-linked immunospot assay. Our results confirm that DEX treatment alleviates PRCV pneumonia early (PID 2) in the infection but continued use through PID 6 exacerbates later stages of infection (PID 4, 10, and 21), possibly by decreasing cellular immune responses in the lungs (IFN-gamma-secreting T cells), thereby creating an environment for more-extensive viral replication. These data have potential implications for corticosteroid use with SARS-CoV patients and suggest a precaution against prolonged use based on their unproven efficacy in humans

  14. Maxillary First Molars with 2 Distobuccal Canals: A Case Series.

    Science.gov (United States)

    Fogel, Howard M; Cunha, Rodrigo Sanches

    2017-11-01

    An appreciation of the anatomic complexity of the root canal system is essential at every step of endodontic treatment. Endodontic treatment of teeth with unusual root canal anatomy presents a unique challenge. Eight patients underwent nonsurgical root canal treatment of 3-rooted maxillary first molars in a specialty endodontic private practice. Four cases of Weine type II and 4 cases of Weine type III canal configurations in the distobuccal root of maxillary first molars were presented.This article highlighted an uncommon anatomic variation of 2 canals in the distobuccal root of the maxillary first molar. Copyright © 2017 American Association of Endodontists. Published by Elsevier Inc. All rights reserved.

  15. Due diligence

    International Nuclear Information System (INIS)

    Sanghera, G.S.

    1999-01-01

    The Occupational Health and Safety (OHS) Act requires that every employer shall ensure the health and safety of workers in the workplace. Issues regarding the practices at workplaces and how they should reflect the standards of due diligence were discussed. Due diligence was described as being the need for employers to identify hazards in the workplace and to take active steps to prevent workers from potentially dangerous incidents. The paper discussed various aspects of due diligence including policy, training, procedures, measurement and enforcement. The consequences of contravening the OHS Act were also described

  16. Comparison of the rheological properties of four root canal sealers

    Institute of Scientific and Technical Information of China (English)

    Seok Woo Chang; Kwang Shik Bae; Young-Kyu Lee; Qiang Zhu; Won Jun Shon; Woo Cheol Lee; Kee Yeon Kum; Seung Ho Baek; In Bog Lee; Bum-Soon Lim

    2015-01-01

    The flowability of a root canal sealer is clinically important because it improves the penetration of the sealer into the complex root canal system. The purpose of this study was to compare the flowabilities of four root canal sealers, measured using the simple press method (ISO 6876), and their viscosities, measured using a strain-controlled rheometer. A newly developed, calcium phosphate-based root canal sealer (Capseal) and three commercial root canal sealers (AH Plus, Sealapex and Pulp Canal Sealer EWT) were used in this study. The flowabilities of the four root canal sealers were measured using the simple press method (n55) and their viscosities were measured using a strain-controlled rheometer (n55). The correlation between these two values was statistically analysed using Spearman’s correlation test. The flow diameters and the viscosities of the root canal sealers were strongly negatively correlated (r520.8618). The viscosity of Pulp Canal Sealer EWT was the lowest and increased in the following order:AH Plus,Sealapex,Capseal (P,0.05). All of the tested root canal sealers showed characteristic time-and temperature-dependent changes in their rheological properties. The viscosities measured using the strain-controlled rheometer were more precise than the flowabilities measured using the simple press method, suggesting that the rheometer can accurately measure the rheological properties of root canal sealers.

  17. Dorello's Canal for Laymen: A Lego-Like Presentation.

    Science.gov (United States)

    Ezer, Haim; Banerjee, Anirban Deep; Thakur, Jai Deep; Nanda, Anil

    2012-06-01

    Objective Dorello's canal was first described by Gruber in 1859, and later by Dorello. Vail also described the anatomy of Dorello's canal. In the preceding century, Dorello's canal was clinically important, in understanding sixth nerve palsy and nowadays it is mostly important for skull base surgery. The understanding of the three dimensional anatomy, of this canal is very difficult to understand, and there is no simple explanation for its anatomy and its relationship with adjacent structures. We present a simple, Lego-like, presentation of Dorello's canal, in a stepwise manner. Materials and Methods Dorello's canal was dissected in five formalin-fixed cadaver specimens (10 sides). The craniotomy was performed, while preserving the neural and vascular structures associated with the canal. A 3D model was created, to explain the canal's anatomy. Results Using the petrous pyramid, the sixth nerve, the cavernous sinus, the trigeminal ganglion, the petorclival ligament and the posterior clinoid, the three-dimensional structure of Dorello's canal was defined. This simple representation aids in understanding the three dimensional relationship of Dorello's canal to its neighboring structures. Conclusion Dorello's canal with its three dimensional structure and relationship to its neighboring anatomical structures could be reconstructed using a few anatomical building blocks. This method simplifies the understanding of this complex anatomical structure, and could be used for teaching purposes for aspiring neurosurgeons, and anatomy students.

  18. Familial co-segregation of Coffin-Lowry syndrome inherited from the mother and autosomal dominant Waardenburg type IV syndrome due to deletion of EDNRB inherited from the father.

    Science.gov (United States)

    Loupe, Jacob; Sampath, Srirangan; Lacassie, Yves

    2014-10-01

    We report an African-American family that was identified after the proposita was referred for diagnostic evaluation at 4½ months with a history of Hirschsprung and dysmorphic features typical of Waardenburg syndrome (WS). Family evaluation revealed that the father had heterochromidia irides and hypertelorism supporting the clinical diagnosis of WS; however, examination of the mother revealed characteristic facial and digital features of Coffin-Lowry syndrome (CLS). Molecular testing of the mother identified a novel 2 bp deletion (c.865_866delCA) in codon 289 of RPS6KA3 leading to a frame-shift and premature termination of translation 5 codons downstream (NM_004586.2:p.Gln289ValfsX5). This deletion also was identified in the proposita and her three sisters with a clinical suspicion of CLS, all of whom as carriers for this X-linked disorder had very subtle manifestations. The molecular confirmation of WS type 4 (Shah-Waardenburg; WS4) was not as straightforward. To evaluate WS types 1-4, multiple sequential molecular tests were requested, including Sanger sequencing of all exons, and deletion/duplication analysis using MLPA for PAX3, MITF, SOX10, EDN3 and EDNRB. Although sequencing did not identify any disease causing variants, MLPA identified a heterozygous deletion of the entire EDNRB in the father. This deletion was also found in the proposita and the oldest child. Since the heterozygous deletion was the only change identified in EDNRB, this family represents one of the few cases of an autosomal dominant inheritance of WS4 involving the endothelin pathway. Altogether, clinical evaluation of the family revealed one child to be positive for WS4 and two positive for CLS, while two children were positive for both diseases simultaneously (including the proposita) while another pair test negative for either disease. This kinship is an example of the coincidence of two conditions co-segregating in one family, with variable phenotypes requiring molecular testing to

  19. Reciprocating vs Rotary Instrumentation in Pediatric Endodontics: Cone Beam Computed Tomographic Analysis of Deciduous Root Canals using Two Single-file Systems.

    Science.gov (United States)

    Prabhakar, Attiguppe R; Yavagal, Chandrashekar; Dixit, Kratika; Naik, Saraswathi V

    2016-01-01

    Primary root canals are considered to be most challenging due to their complex anatomy. "Wave one" and "one shape" are single-file systems with reciprocating and rotary motion respectively. The aim of this study was to evaluate and compare dentin thickness, centering ability, canal transportation, and instrumentation time of wave one and one shape files in primary root canals using a cone beam computed tomographic (CBCT) analysis. This is an experimental, in vitro study comparing the two groups. A total of 24 extracted human primary teeth with minimum 7 mm root length were included in the study. Cone beam computed tomographic images were taken before and after the instrumentation for each group. Dentin thickness, centering ability, canal transportation, and instrumentation times were evaluated for each group. A significant difference was found in instrumentation time and canal transportation measures between the two groups. Wave one showed less canal transportation as compared with one shape, and the mean instrumentation time of wave one was significantly less than one shape. Reciprocating single-file systems was found to be faster with much less procedural errors and can hence be recommended for shaping the root canals of primary teeth. How to cite this article: Prabhakar AR, Yavagal C, Dixit K, Naik SV. Reciprocating vs Rotary Instrumentation in Pediatric Endodontics: Cone Beam Computed Tomographic Analysis of Deciduous Root Canals using Two Single-File Systems. Int J Clin Pediatr Dent 2016;9(1):45-49.

  20. Magnetic resonance imaging in the diagnosis of lumbar canal stenosis in Indian patients

    Directory of Open Access Journals (Sweden)

    Inder Pawar

    2014-01-01

    Full Text Available Introduction: Magnetic resonance imaging (MRI has become the choice of imaging modality for lumbar canal stenosis (LCS due to limitations and radiation risks of computed tomography (CT and spinal radiography. The radiological criteria for diagnosis of LCS are still ambiguous. Aim of this study is to find out the radiological dimensions on MRI of lumbar spinal canal in Indian patients and the critical dimensions at which the symptoms occur. Materials and Methods: A cross-sectional study was conducted in ESI Hospital, New Delhi from July 2011 to 2013. Two study groups were studied, the symptomatic LCS group, consisted of 30 individuals of either sex in age group of 45-65 years. The control group consisted of 30 asymptomatic age matched individuals. MRI scans were performed on 1.5 Tesla scanner. Dimensions of lumbar canal at all the levels (L1-L5 of lumbar vertebra of 60 patients were measured. Results: In our study, in symptomatic group, narrowest mid-sagittal diameter antero-posterior (mean 10.61 was at L5-S1 level. The interligamentous diameter (ILD showed no significant difference between the two groups. Lateral recess depths showed a significant difference between the two groups at all levels except L1 on right side and L1 and L2 on left side. Critical canal dimension was found to be 11.13 mm. Conclusion: MRI can effectively evaluate the lumbar canal stenosis. The critical canal dimensions at which symptoms of stenosis appear were 11.13.

  1. Root canal shaping using rotary nickel-titanium files in preclinical dental education in Turkey.

    Science.gov (United States)

    Ünal, Gül Çelik; Maden, Murat; Orhan, Ekim Onur; Sarıtekin, Erdal; Teke, Anıl

    2012-04-01

    The purposes of this study were to evaluate the ability of a group of third-year dental students without any endodontic clinical experience to use the ProTaper Instruments (Dentsply Maillefer) to decrease the amount of straightening of curved canals on human molar teeth and to determine the incidence of instrument fractures and instrumentation time. Thirty-one undergraduate dental students in Turkey received a training session. The students prepared a total of 144 root canals in human mandibular or maxillary molar teeth with ProTaper. Fifty-six teeth were excluded due to unreadable image, misinformation, or straight or severe curve. Using pre- and post-preparation digital radiographs, the straightening of curved root canals was investigated. Loss of working length and incidence of fracture were also noted. A total of eighty-eight curved root canals were selected. Mesiobuccal or mesiolingual roots with curvatures of between 20° and 43° as assessed by Schneider's method and working length of between 15 mm and 22.5 mm were included in the study. The means of the curved root canals before and after the instrumentation were 29.5° ± 6° and 27° ± 6.3°, respectively. The means of the working length before and after the instrumentation were 19 mm ± 2.1 mm and 18.3 mm ± 1.9 mm, respectively. A statistically significant difference between straightening of curved root canals and loss of working length was found between before and after instrumentation (psession.

  2. The antimicrobial effectiveness of 25% propolis extract in root canal irrigation of primary teeth.

    Science.gov (United States)

    Verma, Manjesh Kumar; Pandey, Ramesh Kumar; Khanna, Richa; Agarwal, Jyotsna

    2014-01-01

    The choice of irrigating solution used in root canals of primary teeth is complicated by their complex morphology and paucity of associated literature. Propolis is a natural product that has gained interest in this context due to its antibacterial effectiveness against several endodontic pathogens. The present study was undertaken to assess the potential of water-soluble 25% propolis extract against microorganisms present in root canals of primary teeth during endodontic procedures. The child patients in the age group of 4-7 years with radiographic evidence of carious pulp exposure were included in the study. Definitive selection was done after gaining access into the pulp chamber and root canals of the selected teeth. The clinical and radiographic evidence of pathosis was ruled out for inclusion in the study. The selected teeth were divided into two groups randomly. In Group A 0.9% isotonic saline and in Group B 25% extract water-soluble propolis were used as irrigating solution, respectively. The bacterial samples were collected both pre- and post-irrigation and were transferred for microbial assay. STAISTISTICAL ANALYSIS: Wilcoxon matched signed rank test was used to compare the pre-and post-irrigation bacterial counts. Mann-Whitney test was used to compare the mean change (pre-post) in bacterial colony counts of groups in the study. Antimicrobial effectiveness of 25% water-soluble extract of propolis in the root canals of primary teeth was confirmed in the present study. The reduction in the mean bacterial colony counts of all the isolated bacteria was noticed higher in Group B than Group A. The results of the present study have confirmed that the antibacterial effectiveness of water-soluble extract of propolis in the root canals of primary teeth in vivo. Considering the low toxicity concerns and antibacterial effectiveness, water-soluble extract of 25% propolis can be advocated as a root canal irrigant in endodontic treatment of primary teeth.

  3. Diversion Canal to Decrease Flooding (Case Study : Kebon Jati-Kalibata Segment, Ciliwung River Basin

    Directory of Open Access Journals (Sweden)

    Indrawati Dian

    2018-01-01

    Full Text Available The flood in Jakarta has become a national concern in Indonesia. It is a haunting disaster, with a high probability to happen when heavy rainfalls in Jakarta and/or its upstream area. Based on data that was provided by Public Work Agency of DKI Jakarta, there are 78 vulnerable points of inundation in which, most of them are located in Ciliwung river basin, commonly in the meandering segments. One of the worst flooding occurs in Pancoran, at Kebonjati to Kalibata segment in particular. The river discharge in this segment is much higher as compared to the carrying capacity. In addition, this area has a high density of population and thus, difficult to increase the *river capacity* by enlarging the river dimension. In this research, a closed diversion canal is proposed as a solution. The effectiveness of the solution is evaluated using a numerical model, HEC-RAS 4.1. The diversion canal is designed as two culverts, with 2.0 m in diameter. Nevertheless, hydraulic jump may occur at the outlet of the canal due to the relatively steep slope. Therefore, the canal outlet should be designed accordingly. A Hydraulic structure such as a stilling basin can be employed to reduce the energy. The results show that the diversion canal has a good performance in decreasing water level and flood discharge in the study area. The canal has the capacity of 17,72 m3/sec and succesfully decreases the water level by 4.71 – 5.66 m from flood level for 2 – 100 years returned period.

  4. Morphology of root canal surface: A reflection on the process of cementation of the composite relined glass fiber post

    Directory of Open Access Journals (Sweden)

    Yasmine Mendes Pupo

    2017-01-01

    Full Text Available Background: The present study was conducted to evaluate the bond strength in the different root thirds (premolars and maxillary central incisors of composite relined glass fiber posts compared to untreated glass fiber posts cemented with dual- or chemical-cure cements. Materials and Methods: Sixty human single-rooted premolars (flat canal (n = 15 and 12 maxillary central incisors were used (round canal (n = 3. The teeth were sectioned, and the roots received endodontic treatment. The standardized preparation of the canals was carried out, and the roots were randomly divided into four groups according to the cementation systems: G1: cemented posts (dual: Ambar/Allcem; G2: relined posts (dual: Ambar/Allcem; G3: cemented posts (chemical: Fusion Duralink/Cement Post; and G4: relined posts (chemical: Fusion Duralink/Cement Post. The roots were cut to give two slices of each third of the root canal per specimen. Push-out test was conducted at a speed of 0.5 mm/min. Data were analyzed by analysis of variance and Tukey's post hoc test (α = 0.05. Results: There was no statistically significant difference between groups for the premolars (flat canal (P = 0.959. There was a significant difference in the central incisors between the middle and apical thirds in the cemented group when using the dual system (P = 0.04 and between the middle and apical thirds (P = 0.003 and cervical and apical thirds (P = 0.033 when using the chemical system. Conclusion: Due to the anatomy of the root canal, flat canal of the premolars does not require relining, but round canal of the maxillary central incisors demands it for more secure in the bond strength.

  5. Peroneal nerve palsy due to compartment syndrome after facial plastic surgery Paralisia de nervo fibular devido a síndrome compartimental após cirurgia plástica da face

    Directory of Open Access Journals (Sweden)

    Clécio O. Godeiro-Júnior

    2007-09-01

    Full Text Available A 25-year-old white man, right after bilateral rhytidoplasty, presented with agitation, necessiting use of haloperidol. Some hours after, he developed severe pain in his legs and a diagnosis of neuroleptic malignant syndrome (NMS was considered. Even with treatment for NMS he still complained of pain. A diagnosis of lower limb compartment syndrome (CS was done only 12 hours after the initial event, being submitted to fasciotomy in both legs, disclosing very pale muscles, due to previous ischemia. This syndrome was not explained only by facial surgery, his position and duration of the procedure. It can be explained by a sequence of events. He had a history of pain in his legs during physical exercises, usually seen in chronic compartment syndrome. He used to take anabolizant and venlafaxine, not previously related, and the agitation could be related to serotoninergic syndrome caused by interaction between venlafaxine and haloperidol. Rhabdomyolisis could lead to oedema and ischmemia in both anterior leg compartment. This report highlights the importance of early diagnosis of compartment syndrome, otherwise, even after fasciotomy, a permanent disability secondary to peripheral nerve compression could occur.Logo após ritidoplastia bilateral, um jovem de 25 anos apresentou agitação, necessitando uso de haloperidol. Algumas horas após, desenvolveu dor intensa em membros inferiores, e o diagnóstico de síndrome neuroléptica maligna foi considerado. Mesmo com o tratamento para tal, persistiu com dor. Após 12 horas do início do quadro, foi realizado o diagnóstico de síndrome compartimental de membros inferiores e o jovem foi submetido a fasciotomia bilateral. Uma seqüência de eventos desencadeou esta síndrome, já que sua ocorrência dificilmente seria justificada pela cirurgia facial e/ou posição do paciente durante o procedimento. O jovem apresentava previamente dor em membros inferiores aos exercícios, sugerindo a ocorrência de uma s

  6. An evaluation of canal curvature at the apical one third in type II mesial canals of mandibular molars

    Directory of Open Access Journals (Sweden)

    Hye-Rim Yun

    2012-05-01

    Full Text Available Objectives The purpose of this study was to evaluate the buccolingual curvature at the apical one third in type II mesial canals of mandibular molars using the radius and angle of curvature. Materials and Methods Total 100 mandibular molars were selected. Following an endodontic access in the teeth, their distal roots were removed. #15 H- or K-files (Dentsply Maillefer were inserted into the mesiobuccal and mesiolingual canals of the teeth. Radiographs of the teeth were taken for the proximal view. Among them, type II canals were selected and divided into two subgroups, IIa and IIb. In type IIa, two separate canals merged into one canal before reaching the apex and in type IIb, two separate canals merged into one canal within the apical foramen. The radius and angle of curvature of specimens were examined. Results In type II, mean radius of curvature in mesiolingual and mesiobuccal canals were 2.82 mm and 3.58 mm, respectively. The radius of the curvature of mesiolingual canals were significantly smaller than that of mesiobuccal canals in type II, and especially in type IIa. However, there were no statistically significant differences in radius of curvature between mesiobuccal and mesiolingual canals in type IIb and there were no significant differences in angle of curvature between type IIa and IIb. Conclusion In this study, type II mesial canals of mandibular molars showed severe curvature in the proximal view. Especially, mesiolingual canals of type IIa had more abrupt curvature than mesiobuccal canals at the apical one third.

  7. Squamous cell carcinoma of the anal canal.

    LENUS (Irish Health Repository)

    Martin, F T

    2012-01-31

    Squamous cell carcinoma ofthe anal canal represents 1.5% of all malignancies affectingthe gastrointestinal tract. Over the past 20 years dramatic changes have been seen in both the epidemiological distribution of the disease and in the therapeutic modalities utilised to manage it. CLINICAL MANAGEMENT: Historically abdominoperineal resection had been the treatment of choice with local resection reserved for early stage disease. Work by Nigro et al. has revolutionised how we currently manage carcinoma of the anal canal, demonstrating combined modality chemoradiotherapy as an appropriate alternative to surgical resection with the benefit of preserving sphincter function. Surgery is then reserved for recurrent disease with salvage abdominoperineal resection. This article reviews current literature and highlights the changing therapeutic modalities with selected clinical cases

  8. Cancer of the external auditory canal

    DEFF Research Database (Denmark)

    Nyrop, Mette; Grøntved, Aksel

    2002-01-01

    OBJECTIVE: To evaluate the outcome of surgery for cancer of the external auditory canal and relate this to the Pittsburgh staging system used both on squamous cell carcinoma and non-squamous cell carcinoma. DESIGN: Retrospective case series of all patients who had surgery between 1979 and 2000....... Median follow-up was 47 months (range, 2-148 months). Data on age, sex, symptoms, TNM status, histopathological diagnosis, surgery, adjunctive therapy, sequelae, recurrence, and status at follow-up were obtained. SETTING: An ear, nose, and throat department in an ambulatory and hospitalized care center....... PATIENTS: Ten women and 10 men with previously untreated primary cancer. Median age at diagnosis was 67 years (range, 31-87 years). Survival data included 18 patients with at least 2 years of follow-up or recurrence. INTERVENTION: Local canal resection or partial temporal bone resection. MAIN OUTCOME...

  9. Eagle syndrome

    International Nuclear Information System (INIS)

    Raina, Deepika; Gothi, Rajesh; Rajan, Sriram

    2009-01-01

    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

  10. The shape of the human lumbar vertebral canal A forma do canal vertebral lombar humano

    Directory of Open Access Journals (Sweden)

    Edmundo Zarzur

    1996-09-01

    Full Text Available Literature on the anatomy of the human vertebral column characterizes the shape of the lumbar vertebral canal as triangular. The purpose of the present study was to determine the precise shape of the lumbar vertebral canal. Ten lumbar vertebral columns of adult male cadavers were dissected. Two transverse sections were performed in the third lumbar vertebra. One section was performed at the level of the lower border of the ligamenta flava, and the other section was performed at the level of the pedicles. The shape of the lumbar vertebral canal at the level of the pedicles tends to be oval or circular, whereas the shape of the lumbar vertebral canal at the level of the lower border of the ligamenta flava is triangular. Thus, the shape of the human lumbar vertebral canal is not exclusively triangular, as reported in the literature. It is related to the level of the transversal section performed on the lumbar vertebra. This finding should be taken into consideration among factors involved in the spread of solutions introduced into the epidural space.A literatura sobre a anatomia da coluna vertebral descreve como sendo triangular o formato do canal vertebral na região lombar. O objetivo deste estudo é determinar a real forma do canal da coluna vertebral lombar.Dez colunas vertebrais de cadáveres de homens adultos foram dissecadas. Dois cortes transversais foram executados na terceira vértebra lombar. Um corte foi feito no nível das bordas inferiores de dois ligamentos amarelos vizinhos e o outro corte foi transversal, no nível dos pedículos. A forma do canal vertebral variou: no nível dos pedículos ela tende a ser oval ou circular e junto às bordas inferiores dos ligamentos amarelos passa a ser triangular. Portanto, a forma do canal vertebral lombar não é somente triangular; ela depende do nível em que se faz o corte transversal da vértebra. Estes achados devem ser levados em consideração entre os fatores envolvidos na difusão das

  11. Meningeal cysts in the sacral canal

    International Nuclear Information System (INIS)

    Salatkova, A.; Matejka, J.

    1996-01-01

    Meningeal cysts develop from the meningeal cover, contain liquor, are localised in the spinal canal. Clinical demonstration are different, often with no clinical manifestation, or with manifestation from compression surrounding structures. Meningeal cysts is possible diagnostic imaging with perimyelography, CT and MRI. In the paper it was discussed different feature in the diagnosis meningeal cysts with perimyelography and CT of the spine, position and time of the examination.(authors). 7 figs., 11 refs

  12. Koebner phenomenon of the ear canal skin.

    LENUS (Irish Health Repository)

    Young, O

    2012-02-01

    The Koebner phenomenon originally described the appearance of psoriatic lesions in the uninvolved skin of patients with psoriasis as a consequence of trauma. We describe a case of concurrent lichen planus and sarcoidosis in the auditory canal, which represents an unusual manifestation of the Koebner phenomenon. This is the first case of concurrent lichen planus and sarcoidosis in the head and neck region and highlights the need for biopsy to allow accurate histopathological diagnosis and treatment.

  13. Koebner phenomenon of the ear canal skin.

    LENUS (Irish Health Repository)

    Young, O

    2009-02-01

    The Koebner phenomenon originally described the appearance of psoriatic lesions in the uninvolved skin of patients with psoriasis as a consequence of trauma. We describe a case of concurrent lichen planus and sarcoidosis in the auditory canal, which represents an unusual manifestation of the Koebner phenomenon. This is the first case of concurrent lichen planus and sarcoidosis in the head and neck region and highlights the need for biopsy to allow accurate histopathological diagnosis and treatment.

  14. Root canal filling using Resilon: a review.

    LENUS (Irish Health Repository)

    Shanahan, D J

    2011-07-01

    Root canal treatment is achieved by chemo-mechanical debridement of the root canal system followed by filling. The filling material \\'entombs\\' residual bacteria and acts as a barrier which prevents the entrance of oral microorganisms and reinfection of the root canal system through microleakage. However, filling with contemporary root filling materials such as gutta-percha offers limited long-term resistance to microorganisms; as a result other materials such as Resilon have been investigated as alternatives. The aim of this review was to analyse the literature to consider whether Resilon is a suitable root canal filling material. A MEDLINE and Cochrane library search including various keyword searches identified several papers which investigated or discussed Resilon or RealSeal\\/Epiphany. Analysis of the literature demonstrated that the bulk of the literature is in vitro in nature, based largely on leakage-type studies, and demonstrates a wide variety of methodologies with conflicting findings; as a result meaningful conclusions are difficult. Within the limit of these in vitro studies Resilon appears to perform adequately in comparison to gutta-percha, however, as a result of the questionable merit of such studies, it cannot presently be considered an evidence-based alternative to the current gold standard gutta-percha. It is imperative that before Resilon is considered as a replacement material, a better understanding of the physical properties of the resin sealer and the reality of the adhesive \\'monoblock\\' are elucidated. The literature also demonstrates a paucity of quality long-term clinical outcome studies which will need to be addressed before firm conclusions can be reached.

  15. Anal canal plasmacytoma - An uncommon presentation site

    International Nuclear Information System (INIS)

    Antunes, M. I.; Bujor, L.; Grillo, I. M.

    2011-01-01

    Background: Extramedullary plasmacytomas (EMP) are rare plasma cell tumors that arise outside the bone marrow. They are most often located in the head and neck region, but may also occur in the other locations. The lower gastrointestinal EMP represents less than 5% of all cases, and location in the anal canal is exceedingly rare. Aim: We present an exceedingly rare case of anal canal plasmacytoma, aiming to achieve a better understanding of this rare entity. Methods: We report a case of a 61-year-old man with a bulky mass in the anal canal. The lesion measured about 6 cm and invaded in all layers of the anal canal wall. The biopsy was performed and revealed a round and plasmocitoid cell population with a solid growth pattern and necrosis. The tumoral cells have express CD79a and CD138 with lambda chains. There was no evidence of disease in other locations and these features were consistent with the diagnosis of an extra-osseous plasmacytoma. The patient was submitted to conformal radiotherapy 50.4 Gy total dose, 1.8 Gy per fraction. After 24 months, the patient is asymptomatic and the lesion has completely disappeared. Conclusions: EMP accounts for approximately 3% of plasma cell malignancies. The median age is about 60 years, and the majority of patients are male. The treatment of choice for extramedullary plasmacytoma is radiation therapy in a dosage of about 50 Gy. Patients should be followed-up for life with repeated bone marrow aspiration and protein studies to detect the development of multiple myeloma. (authors)

  16. Epidermoid carcinoma of the external auditory canal

    International Nuclear Information System (INIS)

    Alfonso Rodriguez, Javier; Llerena Suarez, Jose Angel; Campis Cruz, Hipolito Amable

    2009-01-01

    A 43 years-old, urban, male patient assists the consultation of Otolaryngology with a long evolving otorrhea (around two years), receiving several treatments against the external otitis he suffered. With those antecedents and what we found when examining him, we decided to take a sample (biopsy) of the area, diagnosing an epidermoid carcinoma of the left external canal, an infrequent pathology in our settings

  17. Roentgenographic study of the mandibular canal

    International Nuclear Information System (INIS)

    Ahn, Hyung Kyu

    1980-01-01

    The mandibular canal must be considered carefully during the surgical treatment, especially surgical extraction of the impacted tooth and intraosseous implant, because it contains the important inferior alveolar nerve and vessels. The author investigated the curvature of the mandibular canal and its relation to the mandibular molars and positional relation between the mental foramen and the mandibular premolars in orthopantomogram. The materials consisted of 441 orthopantomograms divided four groups; Group I consisted of 56 males and 44 females from 1 to 6 years of age, Group II consisted of 58 males and 45 females from 7 to 12 years of age, Group III consisted of 65 males and 33 females from 13 to 18 years of age, Group IV consisted of 86 males and 54 females over 19 years of age. The results were as followings; 1. The curvature of mandibular canal was 144.50 .deg. in Group II, 148.11 .deg. in Group III, 147.33 .deg. in Group IV. 2. The curvature of mandibular canal was located most frequently on the area between mandibular 1st molar and mandibular 2nd molar in Group I (42%) and on the mandibular 2nd molar area in Group II (54%), Group III (59%), Group IV (53%). 3. The position of mental foramen was most frequently below the mandibular 1st premolar in Group I (58%), between the mandibular 1st premolar and the 2nd premolar in Group II (62%), Group III (47%), and below the mandibular 2nd premolar in Group IV (58%).

  18. Diagnosis and root canal treatment in a mandibular premolar with three canals.

    Science.gov (United States)

    Soares, Lanuce Rosa; Arruda, Marcos; de Arruda, Marcos Pôrto; Rangel, Andréa Leão; Takano, Edson; de Carvalho Júnior, Jacy Ribeiro; Saquy, Paulo Cesar

    2009-01-01

    This paper presents a case report of a left mandibular second premolar with three canals and three different apical foramina. A 39-year-old male patient presented to our clinic with pain in the mandibular left second premolar. Initially, pain was caused by cold stimulus and later was spontaneously. The intraoral clinical examination revealed a fractured amalgam restoration with occlusal caries. Percussion and cold (Endo-Frost) tests were positive. The radiographic examination showed the presence of two roots. The probable diagnosis was an acute pulpitis. After access cavity, it was observed remaining roof of the pulp chamber and mild bleeding in the tooth lingual area, indicating the possible presence of a third canal. The endodontic treatment was completed in a single session using Root ZX apex locator and K3 NiTi rotary system with surgical diameter corresponding to a .02/45 file in the three canals and irrigation with 1% sodium hypochlorite. The canals were obtured with gutta-percha cones and Sealer 26 using the lateral condensation technique. After 1 year of follow-up, the tooth was asymptomatic and periapical repair was observed radiographically. Internal alterations should be considered during the endodontic treatment of mandibular second premolars. The correct diagnosis of these alterations by the analysis of preoperative radiographs can help the location of two or more canals, thereby avoiding root therapy failure.

  19. Semiconductor laser irradiation improves root canal sealing during routine root canal therapy

    Science.gov (United States)

    Hu, Xingxue; Wang, Dashan; Cui, Ting; Yao, Ruyong

    2017-01-01

    Objective To evaluate the effect of semiconductor laser irradiation on root canal sealing after routine root canal therapy (RCT). Methods Sixty freshly extracted single-rooted human teeth were randomly divided into six groups (n = 10). The anatomic crowns were sectioned at the cementoenamel junction and the remaining roots were prepared endodontically with conventional RCT methods. Groups A and B were irradiated with semiconductor laser at 1W for 20 seconds; Groups C and D were ultrasonically rinsed for 60 seconds as positive control groups; Groups E and F without treatment of root canal prior to RCT as negative control groups. Root canal sealing of Groups A, C and E were evaluated by measurements of apical microleakage. The teeth from Groups B, D and F were sectioned, and the micro-structures were examined with scanning electron microscopy (SEM). One way ANOVA and LSD-t test were used for statistical analysis (α = .05). Results The apical sealing of both the laser irradiated group and the ultrasonic irrigated group were significantly different from the control group (pirrigated group (p>0.5). SEM observation showed that most of the dentinal tubules in the laser irradiation group melted, narrowed or closed, while most of the dentinal tubules in the ultrasonic irrigation group were filled with tooth paste. Conclusion The application of semiconductor laser prior to root canal obturation increases the apical sealing of the roots treated. PMID:28957407

  20. Cushing's syndrome during pregnancy

    NARCIS (Netherlands)

    Mulder, W. J.; Berghout, A.; Wiersinga, W. M.

    1990-01-01

    Two cases of Cushing's syndrome during pregnancy are reported, both due to an adrenal adenoma. The association of pregnancy and Cushing's syndrome has up to now been described in 48 patients (including our two cases); Cushing's syndrome was ACTH-independent in 59%, ACTH-dependent in 33%, and of

  1. Nodular Fasciitis of External Auditory Canal

    Directory of Open Access Journals (Sweden)

    Jihyun Ahn

    2016-09-01

    Full Text Available Nodular fasciitis is a pseudosarcomatous reactive process composed of fibroblasts and myofibroblasts, and it is most common in the upper extremities. Nodular fasciitis of the external auditory canal is rare. To the best of our knowledge, less than 20 cases have been reported to date. We present a case of nodular fasciitis arising in the cartilaginous part of the external auditory canal. A 19-year-old man complained of an auricular mass with pruritus. Computed tomography showed a 1.7 cm sized soft tissue mass in the right external auditory canal, and total excision was performed. Histologic examination revealed spindle or stellate cells proliferation in a fascicular and storiform pattern. Lymphoid cells and erythrocytes were intermixed with tumor cells. The stroma was myxoid to hyalinized with a few microcysts. The tumor cells were immunoreactive for smooth muscle actin, but not for desmin, caldesmon, CD34, S-100, anaplastic lymphoma kinase, and cytokeratin. The patient has been doing well during the 1 year follow-up period.

  2. Canal Centring Ability of ProTaper and Mtwo Rotary Systems in Curved Canals

    Directory of Open Access Journals (Sweden)

    Turkaydin Dilek Erbay

    2014-07-01

    Full Text Available The purpose of this investigation was to compare centring ratio of ProTaper and Mtwo rotary systems. 60 mandibular molar teeth which had 25, 30 and 35 degree curvature in mesio-buccal root canal were used. Group 1 had 25°, Group 2 had 30°, and Group 3 had 35° curvatures. The roots were sectioned horizontally at 2 mm away from the apex. The apical region was then observed under a stereo-microscope. In each group, teeth were instrumented using ProTaper and Mtwo systems. After canal preparation, digital images of apical part of canals were taken. These images were then superimposed by using Adobe Photoshop CS2 programme. The data were analyzed using ANOVA and Student’s t-test.

  3. Serotonin syndrome

    Science.gov (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 ...

  4. Environmental pollution and shipping feasibility of the Nicaragua Canal.

    Science.gov (United States)

    Chen, Jihong; Zeng, Xin; Deng, Yibing

    2016-12-15

    In recent years, the Nicaraguan government's renewed interest in constructing this interoceanic canal has once again aroused widespread concern, particularly in the global shipping industry. The project's immense ecological risks, coupled with the recent expansions of both the Panama Canal and the Suez Canal, have raised questions among scientists and experts about its viability. Whether the Nicaragua Canal is really feasible for international shipping, given its high marine pollution risks, requires the further study. This paper discusses and analyses the feasibility of the Nicaragua Canal in the context of its environmental impact and value as a shipping service. This paper aims to provide an important information reference to inform strategic decision-making among policymakers and stakeholders. Our research results indicate that the environmental complexity, economic costs and safety risks of building a new transoceanic canal are simply too high to justify the project. Copyright © 2016 Elsevier Ltd. All rights reserved.

  5. Intravenous flurbiprofen axetil can stabilize the hemodynamic instability due to mesenteric traction syndrome--evaluation with continuous measurement of the systemic vascular resistance index using a FloTrac® sensor.

    Science.gov (United States)

    Takada, Motoshi; Taruishi, Chieko; Sudani, Tomoko; Suzuki, Akira; Iida, Hiroki

    2013-08-01

    Evaluation of the stabilizing effect of intravenous flurbiprofen axetil against hemodynamic instability due to mesenteric traction syndrome (MTS) by continuous measurement of systemic vascular resistance index (SVRI) using a FloTrac(®) sensor was evaluated. Prospective randomized trial. A single-center study performed in an educational hospital. Two prospective studies were carried out, each with 40 patients scheduled for elective open abdominal surgery. Twenty patients received 50 mg of flurbiprofen axetil after the recognition of MTS by the anesthesiologist (group FT). The remaining patients served as controls (groups CP and CT). SVRI data was collected every 20 seconds for 1 hour after starting the laparotomy. The average SVRI prior to skin incision was taken as the baseline. Following 3 values were devised to evaluate MTS: the S-value (sum total of changes in SVRI from baseline), the T-value (period during which SVRI remained 20% or more below baseline), and the M-value (maximum change in SVRI from baseline). In group FP, decrease in SVRI was smaller than in group CP, and statistical differences in the 3 values were found. In group FT, SVRI recovered earlier than in group CT, and statistical differences were found in S-value and T-value. However, the M-value had no statistical differences. Intravenous flurbiprofen axetil can stabilize the hemodynamic instability due to MTS. Copyright © 2013 Elsevier Inc. All rights reserved.

  6. NMR imaging of the vertebral column and the spinal canal. 2. rev. and enl. ed.

    International Nuclear Information System (INIS)

    Forsting, Michael; Uhlenbrock, Detlev; Wanke, Isabel; Universitaetsklinikum Essen

    2009-01-01

    The book on the MRT (magnetic resonance tomography) of the vertebral cord and spinal canal covers the following topics: physics fundamentals and application; malformation of the spinal canal; degenerative vertebral column diseases; vertebral column and spinal canal carcinomas; inflammatory diseases of the vertebral column and the spinal canal; applicability of MRT in case of acute spinal cord traumata; vascular diseases of the spinal canal

  7. Magnetic resonance imaging of the internal auditory canal

    International Nuclear Information System (INIS)

    Daniels, D.L.; Herfkins, R.; Koehler, P.R.; Millen, S.J.; Shaffer, K.A.; Williams, A.L.; Haughton, V.M.

    1984-01-01

    Three patients with exclusively or predominantly intracanalicular neuromas and 5 with presumably normal internal auditory canals were examined with prototype 1.4- or 1.5-tesla magnetic resonance (MR) scanners. MR images showed the 7th and 8th cranial nerves in the internal auditory canal. The intracanalicular neuromas had larger diameter and slightly greater signal strength than the nerves. Early results suggest that minimal enlargement of the nerves can be detected even in the internal auditory canal

  8. CT of the external auditory canal: Correlation with clinical otoscopy

    International Nuclear Information System (INIS)

    Shankar, L.; Hawke, M.; Leekam, R.N.

    1987-01-01

    CT is the modality of choice in the assessment of external auditory canal abnormalities. Disorders of the complex structures within the ear that may be difficult to define clinically are well visualized on high-resolution CT. This exhibit illustrates various external auditory canal abnormalities and correlates these with color illustrations from clinical otoscopy. Congenital lesions of the external auditory canal - microtia, temporo-bandibular joint herniation, and fistulas - and various acquired lesions - traumatic, inflammatory, and neoplastic - are reviewed in this exhibit

  9. Optimizing the chemical aspect of root canal irrigation

    OpenAIRE

    de Macedo, R.G.

    2013-01-01

    Root canal treatment is aimed at the removal of inflamed and infected tissue present in the root canal system. It will prevent the entrance of new microorganisms or nutrients in order to maintain or create a healthy environment around the root. There is sufficient evidence that shows that traditional endodontic therapy cannot make the root canal system completely free of bacteria. Moreover, it may not always result in complete healing of apical periodontitis, highlighting the need of optimizi...

  10. ROOT CANAL IRRIGANTS AND IRRIGATION TECHNIQUES: A REVIEW

    OpenAIRE

    Aniketh; Mohamed; Geeta; Nandakishore; Gourav Kumar; Patrick Timothy; Jayson Mathew; Sahle Abdul

    2015-01-01

    Root canal irrigation is not much emphasised in endodontic therapy. Most articles discussed are on root canal shaping and obturation not much emphasis is given for irrigation. There are many irrigation solutions which are introduced into market. The primary objective of root canal therapy is the ret ention of the pulpless or pulpally involved tooth with its associated periapical tissues in a healthy state. Achievement of this objective requires that the pulpal spaces and con...

  11. SCADA system with predictive controller applied to irrigation canals

    OpenAIRE

    Figueiredo, João; Botto, Miguel; Rijo, Manuel

    2013-01-01

    This paper applies a model predictive controller (MPC) to an automatic water canal with sensors and actuators controlled by a network (programmable logic controller), and supervised by a SCADA system (supervisory control and a data acquisition). This canal is composed by a set of distributed sub-systems that control the water level in each canal pool, constrained by discharge gates (control variables) and water off-takes (disturbances). All local controllers are available through an industria...

  12. Environmental pollution and shipping feasibility of the Nicaragua Canal

    International Nuclear Information System (INIS)

    Chen, Jihong; Zeng, Xin; Deng, Yibing

    2016-01-01

    In recent years, the Nicaraguan government's renewed interest in constructing this interoceanic canal has once again aroused widespread concern, particularly in the global shipping industry. The project's immense ecological risks, coupled with the recent expansions of both the Panama Canal and the Suez Canal, have raised questions among scientists and experts about its viability. Whether the Nicaragua Canal is really feasible for international shipping, given its high marine pollution risks, requires the further study. This paper discusses and analyses the feasibility of the Nicaragua Canal in the context of its environmental impact and value as a shipping service. This paper aims to provide an important information reference to inform strategic decision-making among policymakers and stakeholders. Our research results indicate that the environmental complexity, economic costs and safety risks of building a new transoceanic canal are simply too high to justify the project. - Highlights: • The Nicaragua Canal is a long-standing controversial maritime project. • We develop specific analysis of the high environmental pollution risks of the canal. • The shipping service feasibility of the canal is faced with great uncertainty. • The government and stakeholders are suggested to be discreet to the mega project.

  13. Management of Acquired Atresia of the External Auditory Canal.

    Science.gov (United States)

    Bajin, Münir Demir; Yılmaz, Taner; Günaydın, Rıza Önder; Kuşçu, Oğuz; Sözen, Tevfik; Jafarov, Shamkal

    2015-08-01

    The aim was to evaluate surgical techniques and their relationship to postoperative success rate and hearing outcomes in acquired atresia of the external auditory canal. In this article, 24 patients with acquired atresia of the external auditory canal were retrospectively evaluated regarding their canal status, hearing, and postoperative success. Acquired stenosis occurs more commonly in males with a male: female ratio of 2-3:1; it seems to be a disorder affecting young adults. Previous ear surgery (13 patients, 54.2%) and external ear trauma (11 patients, 45.8%) were the main etiological factors of acquired ear canal stenosis. Mastoidectomy (12/13) and traffic accidents (8/11) comprise the majority of these etiological factors. Endaural incision is performed in 79.2% and postauricular incision for 20.8% of cases during the operation. As types of surgical approach, transcanal (70.8%), transmastoid (20.8%), and combined (8.4%) approaches are chosen. The atretic plate is generally located at the bony-cartilaginous junction (37.5%) and in the cartilaginous canal (33.3%); the bony canal is involved in a few cases only. Preserved healthy canal skin, split- or full-thickness skin grafts, or pre- or postauricular skin flaps are used to line the ear canal, but preserved healthy canal skin is preferred. The results of surgery are generally satisfactory, and complications are few if surgical principles are followed.

  14. Mandibular second premolar with three canals: Re-treatment of a case with unusual root canal anatomy

    Directory of Open Access Journals (Sweden)

    Niranjan Desai

    2011-01-01

    Full Text Available A thorough knowledge of root canal anatomy along with the anatomical variations that may be present is essential for success of endodontic therapy. Unusual presentations in the number of the roots or the canals should be expected in every tooth. Mandibular second premolars are thought of as having a single root and canal. Studies have stated that the prevalence of three canals with three orifices in this tooth is 0.4%. The mandibular second premolar is particularly difficult to treat owing to the fact that a wide variation in the number, location and curvature of the roots and canals exist. Added to this is the fact that the access opening is restricted and location of the lingually placed orifices is difficult. This case report details the re-treatment of a mandibular second premolar with three canals and three separate orifices using the surgical microscope.

  15. Enhanced MRI in patients with Ramsay-Hunt's syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Yanagida, Masahiro; Ushiro, Koichi; Yamashita, Toshio; Kumazawa, Tadami (Kansai Medical Univ., Osaka (Japan). Dept. of Otolaryngology); Katoh, Tsutomu (Kansai Medical Univ., Osaka (Japan). Dept. of Radiology)

    1993-01-01

    Enhanced MRI was performed in 14 patients with Ramsay-Hunt,s syndrome to investigate the pathogenesis of this syndrome. All MRI studies were performed on a 0.5T superconductivity MRI system using a head coil with Gd-DTPA. Enhancement was observed in the areas of the distal internal auditory canal and labyrinthine segment in many patients, and was especially prominent in patients suffering from vertigo, tinnitus, and hearing loss. In some patients it involved not only the facial nerve of the internal auditory canal but also the cochlear nerve and vestibular nerves. Since histological changes of the facial nerve in patients with Ramsay-Hunt's syndrome are assumed to occur in the distal internal auditory canal and labyrinthine segment, which is more proximal than the geniculate ganglion, and the possibility is suggested that inflammation may be spread to the vestibular and cochlear nerve via the internal auditory canal. (14 refs., 2 figs.).

  16. Cushing syndrome due to adrenal tumor

    Science.gov (United States)

    ... include: Backache, which occurs with routine activities Bone pain or tenderness Collection of fat between the shoulders and above the collar bone Rib and spine fractures caused by thinning of the bones Weak muscles, ...

  17. Stroke due to Familial Marfan Syndrome

    Directory of Open Access Journals (Sweden)

    M.Taylan Pekoz

    2013-04-01

    Full Text Available Marfan sendromu iskelet, okuler, kardiyovaskuler, akciger, deri ve dura anormalliklerine yol acan otozomal dominant gecisli multisistem bir hastaliktir. Bu makalede Ailesel Marfan Sendromu tanisi alan ve takip periyodunda inme gelisen bir olgu sunulmustur. . [Cukurova Med J 2013; 38(2.000: 285-289

  18. Neonatal aspiration syndrome due to vernix caseosa

    International Nuclear Information System (INIS)

    Ohlsson, A.; Najjar, H.; Cumming, W.A.

    1985-01-01

    Fetal aspiration of meconium in amniotic fluid is a well-known cause of respiratory distress in newborn infants. It causes an irregular, coarse, nodular pattern on chest radiographs. Less known is that aspiration of vernix caseoasa causes a similar syncrome. We present a post-mature infant in whom aspiration of vernix caseosa caused respiratory distress, ventilatory difficulty, and radiographic changes essentially the same as aspiration of meconium. (orig.)

  19. Neonatal aspiration syndrome due to vernix caseosa

    Energy Technology Data Exchange (ETDEWEB)

    Ohlsson, A.; Najjar, H.; Cumming, W.A.

    1985-02-01

    Fetal aspiration of meconium in amniotic fluid is a well-known cause of respiratory distress in newborn infants. It causes an irregular, coarse, nodular pattern on chest radiographs. Less known is that aspiration of vernix caseoasa causes a similar syncrome. We present a post-mature infant in whom aspiration of vernix caseosa caused respiratory distress, ventilatory difficulty, and radiographic changes essentially the same as aspiration of meconium.

  20. Cervical shaping in curved root canals: comparison of the efficiency of two endodontic instruments

    OpenAIRE

    Busquim Sandra Soares Kühne; Santos Marcelo dos

    2002-01-01

    The aim of this study was to determine the removal of dentin produced by number 25 (0.08) Flare files (Quantec Flare Series, Analytic Endodontics, Glendora, California, USA) and number 1 e 2 Gates-Glidden burs (Dentsply - Maillefer, Ballaigues, Switzerland), in the mesio-buccal and mesio-lingual root canals, respectively, of extracted human permanent inferior molars, by means of measuring the width of dentinal walls prior and after instrumentation. The obtained values were compared. Due to th...