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Sample records for bilateral wyburn-mason syndrome

  1. Bilateral Wyburn-Mason Syndrome presenting as acute subarachnoid haemorrhage - a very rare congenital neurocutaneuos disorder

    DEFF Research Database (Denmark)

    Cortnum, Søren Ole Stigaard; Sørensen, Preben; Andresen, J

    2008-01-01

    . Wyburn-Mason syndrome is a very rare congenital neurocutaneuos disorder comprising of vascular malformations of the retina, ipsilateral cerebral AVMs and occasionally lesions in the oronasopharyngeal area. Subarachnoid haemorrhage associated with Wyburn-Mason syndrome has been described in only 5...

  2. A case report of Wyburn-Mason syndrome and review of the literature

    International Nuclear Information System (INIS)

    Dayani, P.N.; Sadun, A.A.

    2007-01-01

    Wyburn-Mason syndrome is a distinct congenital neurocutaneous entity comprised of ipsilateral arteriovenous malformations (AVMs) of the midbrain, vascular abnormalities affecting the visual pathway, and facial nevi. We report a case and review of the literature of all other reported cases of Wyburn-Mason syndrome (n = 26) in the English literature since 1973. In this review, we report on a 41/2-year-old boy with Wyburn-Mason syndrome who presented with left retinal and orbital AVMs and a ruptured thalamic AVM. The patient did not respond to light in the left eye and demonstrated a left afferent pupillary defect. He did not have any cutaneous lesions. We also characterize other reported cases of Wyburn-Mason syndrome. The presentation of patients with Wyburn-Mason syndrome can vary greatly according to the site and the extent of vascular lesions. Intracranial AVMs occasionally hemorrhage with significant morbidity. Treatment is controversial, and patients are typically managed conservatively by observation. (orig.)

  3. Simultaneous bilateral Mason type IIb radial head fractures in a young female: Was an increased carrying angle the cause?

    LENUS (Irish Health Repository)

    2015-01-01

    Radial head fracture is the most common type of elbow fracture in adults. It results from a fall on an outstretched hand. However, simultaneous bilateral radial head fractures are extremely rare. We report a case of simultaneous bilateral mason type IIb radial head fractures in a young female, which was treated nonoperatively with excellent results

  4. 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.

  5. Congenital bilateral perisylvian syndrome with pituitary hypoplasia and ectopic neurohypophysis

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    Yekeler, Ensar; Genchellac, Hakan; Dursun, Memduh; Acunas, Gulden [Istanbul Faculty of Medicine, Department of Radiology, Istanbul (Turkey); Ozmen, Meral [Istanbul Faculty of Medicine, Department of Paediatric Neurology, Istanbul (Turkey)

    2004-11-01

    Congenital bilateral perisylvian syndrome (CBPS) is a congenital neurological syndrome characterized by pseudobulbar palsy, cognitive deficits and bilateral perisylvian abnormalities observed on imaging. The described abnormality in CBPS is polymicrogyria located in the frontal, parietal, and/or occipital lobes. A few syndromes or abnormalities associated with this syndrome have been documented. Pituitary abnormalities are rare disorders. Association of CBPS with pituitary abnormalities has not been reported previously. In this case, a combination of bilateral perisylvian polymicrogyria with pituitary hypoplasia and ectopic neurohypophysis, caused by a possible single common insult, is presented. (orig.)

  6. Congenital bilateral perisylvian syndrome with pituitary hypoplasia and ectopic neurohypophysis

    International Nuclear Information System (INIS)

    Yekeler, Ensar; Genchellac, Hakan; Dursun, Memduh; Acunas, Gulden; Ozmen, Meral

    2004-01-01

    Congenital bilateral perisylvian syndrome (CBPS) is a congenital neurological syndrome characterized by pseudobulbar palsy, cognitive deficits and bilateral perisylvian abnormalities observed on imaging. The described abnormality in CBPS is polymicrogyria located in the frontal, parietal, and/or occipital lobes. A few syndromes or abnormalities associated with this syndrome have been documented. Pituitary abnormalities are rare disorders. Association of CBPS with pituitary abnormalities has not been reported previously. In this case, a combination of bilateral perisylvian polymicrogyria with pituitary hypoplasia and ectopic neurohypophysis, caused by a possible single common insult, is presented. (orig.)

  7. A case of adrenal Cushing's syndrome with bilateral adrenal masses.

    Science.gov (United States)

    Guo, Ya-Wun; Hwu, Chii-Min; Won, Justin Ging-Shing; Chu, Chia-Huei; Lin, Liang-Yu

    2016-01-01

    A functional lesion in corticotrophin (ACTH)-independent Cushing's syndrome is difficult to distinguish from lesions of bilateral adrenal masses. Methods for distinguishing these lesions include adrenal venous sampling and (131)I-6β-iodomethyl-19-norcholesterol ((131)I-NP-59) scintigraphy. We present a case of a 29-year-old Han Chinese female patient with a history of hypercholesterolaemia and polycystic ovary syndrome. She presented with a 6month history of an 8kg body weight gain and gradual rounding of the face. Serial examinations revealed loss of circadian rhythm of cortisol, elevated urinary free-cortisol level and undetectable ACTH level (Cushing's syndrome presenting with bilateral adrenal masses. The clinical presentation of Cushing' syndrome includes symptoms and signs of fat redistribution and protein-wasting features.The diagnosis of patients with ACTH-independent Cushing's syndrome with bilateral adrenal masses is challenging for localisation of the lesion.Both adrenal venous sampling and (131)I-NP-59 scintigraphy are good methods to use in these patients with Cushing's syndrome presenting with bilateral adrenal masses.

  8. Nelson′s syndrome presenting as bilateral oculomotor palsy

    Directory of Open Access Journals (Sweden)

    Abhay Gundgurthi

    2013-01-01

    Full Text Available Nelson′s syndrome refers to a clinical spectrum arising from progressive enlargement of pituitary adenoma and elevated adrenocorticotrophic hormone after total bilateral adrenalectomy for Cushing′s disease comprising of hyperpigmentation, visual field defects which can be life threatening. We report here a 50-year male presenting with rapid onset of Nelson′s syndrome with an unusual finding of bilateral oculomotor palsy mistakenly treated as ocular myasthenia.

  9. Bilateral Anterior Opercular Syndrome With Partial Kluver?Bucy Syndrome in a Stroke Patient: A Case Report

    OpenAIRE

    Cho, Ah-Ra; Lim, Young-Ho; Chung, Sae-Hoon; Choi, Eun-Hi; Lim, Jong Youb

    2016-01-01

    Bilateral anterior opercular syndrome and partial Kluver?Bucy syndrome are associated with bilateral middle cerebral artery lesions. The combination of these two syndromes has only been reported in a child with limbic encephalitis. In this case, a 44-year-old woman with bilateral middle cerebral artery infarction, which occurred 2 years prior, could walk independently. However, she showed automatic-voluntary dissociation and anarthria with preserved writing skills. She also presented hypersex...

  10. 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.

  11. Bilateral complex regional pain syndrome following spinal cord injury and bilateral calcaneus fracture

    Directory of Open Access Journals (Sweden)

    Ahmet Boyacı

    2013-09-01

    Full Text Available Complex regional pain syndrome (CRPS is a disease affectingone or more extremities, characterized by spontaneouspain, allodynia, hyperpathia and hyperalgesia.CRPS is separated into Type 1 and Type 2. CRPS whichdevelops after a nociceptive event is labeled as Type 1and when it develops following peripheral nerve damage,Type 2. Although the pathogenesis is not fully understood,peripheral and central sensitivity are held responsible.Bilateral lower extremity involvement is extremely rare.However, it should be borne in mind that it can develop intraumatic injuries which occur in more than one area anddiagnosis and commencement of a rehabilitation programshould be made in the early period. The case is presentedhere of bilateral Type 1 CRPS developing after incompletespinal cord injury and bilateral calcaneus fracture. JClin Exp Invest 2013; 4 (3: 360-363Key words: complex regional pain syndrome, calcaneusfracture, spinal cord injury

  12. Bilateral ovarian fibroma associated with Gorlin syndrome

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    Shahnaz Aram

    2009-02-01

    Full Text Available

    • Gorlin syndrome (GS, also known as nevoid basal cell carcinoma syndrome (NBCCS, is a rare inherited multisystem disorder. This paper presents a 22-years-old Iranian woman with this syndrome whose past history was multiple keratocysts of maxillary bone. She was referred to gynecology clinic with the chief complaint of irregular menses and vaginal spotting. On examination, frontal bossing and hypertelorism were detected. Physical examination of genitalia disclosed bilateral adnexal masses. Pelvic ultrasound showed two solid, echogenous and calcified masses measuring 100*50*10 & 60*50*45 mm in the left and right ovaries, respectively. The patient underwent right oophorectomy and ovarian mass resection with preservation of intact ovarian tissue on the left side. On frozen and permanent histological sections, bilateral and calcified ovarian fibromas were diagnosed. Surprisingly, during the last follow-up one year after the surgery, we found that our patient was expecting a baby. It can be concluded that in the presence of bilateral and calcified ovarian fibromas, the possibility of GS should be considered. Accurate diagnosis is only possible with close attention to the familial and past medical history and physical examination. In these patients, careful follow up for detecting malignancies and other complications is highly recommended.
    • KEY WORDS: Gorlin syndrome, ovarian fibroma, multiple keratocysts.

  13. Bilateral uveitis and Usher syndrome: a case report.

    Science.gov (United States)

    Benson, Matthew D; MacDonald, Ian M

    2015-03-15

    Usher syndrome is a genetically heterogeneous condition and represents the most common cause of inherited combined vision and hearing loss. Deficits manifest as sensorineural hearing loss that typically develops at a young age and retinitis pigmentosa that can lead to peripheral vision loss and night blindness. As a result, this syndrome can have a significant impact on a patient's quality of life. Previous studies have described an association between Usher syndrome and Fuchs' heterochromic iridocyclitis, a form of non-granulomatous uveitis that generally presents in a unilateral manner. We present a rare finding of bilateral uveitis and, to the best of our knowledge, the first report of granulomatous uveitis as a feature in a patient with Usher syndrome. A 45-year-old Caucasian woman with a known history of retinitis pigmentosa presented to our clinic with suspected Usher syndrome, given her report of long-standing hearing loss. Aside from a mild loss in visual acuity, our patient was otherwise asymptomatic. Visual field testing, audiology and electroretinography findings supported the diagnosis of Usher syndrome. With slit lamp examination she was found to have bilateral keratic precipitates, with large, greasy-white, mutton-fat keratic precipitates on the endothelial surface of her left eye. A thorough work-up that included blood tests and imaging was negative for an alternative cause of her uveitis. We present a rare finding of bilateral uveitis and what we believe to be the first reported instance of mutton-fat keratic precipitates and granulomatous uveitis as a feature in a patient with Usher syndrome. By identifying atypical presentations of the disease, we hope to contribute to the range of ophthalmic conditions that may be seen in association with Usher syndrome.

  14. Bilateral simultaneous traumatic upper arm compartment syndromes associated with anabolic steroids.

    Science.gov (United States)

    Erturan, Gurhan; Davies, Nev; Williams, Huw; Deo, Sunny

    2013-01-01

    Acute compartment syndrome, a surgical emergency, is defined as increased pressure in an osseofascial space. The resulting reduction of capillary perfusion to that compartment requires prompt fasciotomy. Treatment delay has a poor prognosis, and is associated with muscle and nerve ischemia, resultant infarction, and late-onset contractures. We report a case of traumatic bilateral upper limb acute compartment syndrome associated with anabolic steroids, requiring bilateral emergency fasciotomies. A 25-year-old male bodybuilder taking anabolic steroids, with no past medical history, presented to the Emergency Department 25 min after a road traffic accident. Secondary survey confirmed injuries to both upper limbs with no distal neurovascular deficit. Plain radiographs demonstrated bilateral metaphyseal fractures of the distal humeri. Within 2 h of the accident, the patient developed clinical features that were consistent with bilateral upper arm compartment syndrome. Bilateral fasciotomies of both anterior and posterior compartments were performed, confirming clinical suspicion. We suggest consideration of a history of anabolic steroid use when evaluating patients with extremity trauma. Copyright © 2013 Elsevier Inc. All rights reserved.

  15. Gorlin syndrome and bilateral ovarian fibroma

    Science.gov (United States)

    Pirschner, Fernanda; Bastos, Pollyana Marçal; Contarato, George Luiz; Bimbato, Anna Carolina Bon Lima; Filho, Antônio Chambô

    2012-01-01

    INTRODUCTION Gorlin syndrome (GS), also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare hereditary, autosomal dominant disease that affects various systems. Its prevalence is estimated at 1/57,000 to 1/256,000 of the population. It is characterized by basal cell carcinomas, multiple odontogenic keratocysts, skeletal abnormalities and ovarian fibroma, among other disorders. PRESENTATION OF CASE To report the case of a young patient with Gorlin syndrome and bilateral ovarian fibroma. DISCUSSION A 20-year old patient with Gorlin syndrome presented with facial asymmetry, broad nasal root, dental abnormalities, micrognathism, convergent strabismus, multiple pigmented lesions on the trunk and face, pectus excavatum, kyphoscoliosis and a palpable mass in the abdomen occupying the entire pelvic region. CONCLUSION Gorlin–Goltz syndrome is a hereditary pathology that includes numerous clinical manifestations. Diagnosis is clinical and genetic confirmation is unnecessary. PMID:22771908

  16. Memories of Ken Mason.

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    Brazier, Margaret; McCall Smith, Alexander; Laurie, Graeme; McLean, Shelia; Jackson, Emily; Neal, Mary; Biggs, Hazel; Ost, Suzanne

    2017-08-01

    John Kenyon Mason (19 December 1919-26 January 2017), CBE, MD, LLD, FRCPath, DMJ, FRCPE, FRSE, and known as Ken Mason to us all, was Regius Professor of Forensic Medicine at the University of Edinburgh from 1973-1985 and thereafter Emeritus Professor of Forensic Medicine and Honorary Fellow in the School of Law at the University of Edinburgh. A formal obituary to Professor Mason is published in the Scotsman (http://www.scotsman.com/news/obituaries/obituary-professor-ken-mason-medical-jurisprudence-pioneer-1-4357181). We offer some personal tributes to our friend and colleague. © The Author 2017. Published by Oxford University Press; all rights reserved. For Permissions, please email: journals.permissions@oup.com.

  17. Bilateral calf chronic compartment syndrome in an elderly male: a case report.

    LENUS (Irish Health Repository)

    Siau, Keith

    2009-01-01

    Leg pain is a common presentation to the outpatient department. Bilateral calf chronic compartment syndrome is a rare cause of bilateral calf pain. Although this condition has been well documented in young athletes, it has rarely been reported in the elderly. We present the case of a 68-year-old male bodybuilder with bilateral calf chronic compartment syndrome, describe the presentation and evaluation of the condition, and provide a review of the literature herewith.

  18. Coexisting first and bilateral second branchial fistulas in a child with nonfamilial branchio-otic syndrome.

    Science.gov (United States)

    Lapeña, Jose F; Jimena, Genilou Liv M

    2013-07-01

    We describe what we believe is only the third reported case of coexisting first and bilateral second branchial fistulas associated with nonfamilial branchio-otic syndrome. The patient was a 6-year-old girl who presented with bilaterally draining anterior neck puncta, a preauricular sinus, and moderately severe bilateral hearing loss. She had no family history of branchial anomalies. Compared with branchial cysts and sinuses, branchial fistulas are rare. Even more rare are bilateral second branchial fistulas coexisting with first branchial anomalies, as only 10 cases have been previously reported in the English-language literature. Of these 10 cases, 5 were associated with either branchio-otic syndrome or branchio-oto-renal syndrome; 2 patients had familial branchio-otic syndrome, 2 had nonfamilial branchio-otic syndrome, and 1 had nonfamilial branchio-oto-renal syndrome.

  19. Bilateral Complex Regional Pain Syndrome after Fracture of Bilateral Tibia and Fibula

    Directory of Open Access Journals (Sweden)

    Senem Şaş

    2017-04-01

    Full Text Available Complex regional syndrome type 1 (CRPS-1 is a painful clinical condition. It occurs after a painful event and characterized by allodynia, hyperalgesia, edema, abnormalities in skin blood flow and abnormal sudomotor activity. When CRPS-1 is associated with nerve injury, it is defined as CRPS-2. Central and peripheral theory are responsible in etiopathogenesis of CRPS-1. Generally it occurs in the injured limb. But, it may ocur in the opposite extremities. In this article, we present a case developing bilateral CRPS-1 after bilateral tibia and fibula fracture by reviewing current literatüre.

  20. Adrenocorticotropic Hormone-Independent Cushing Syndrome with Bilateral Cortisol-Secreting Adenomas

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    Eu Jeong Ku

    2013-06-01

    Full Text Available A 48-year-old woman was incidentally found to have bilateral adrenal masses, 2.8 cm in diameter on the right, and 2.3 cm and 1.7 cm in diameter on the left, by abdominal computed tomography. The patient had a medical history of hypertension, which was not being controlled by carvedilol, at a dose of 25 mg daily. She presented with signs and symptoms that suggested Cushing Syndrome. We diagnosed adrenocorticotropic hormone (ACTH-independent Cushing Syndrome based on the results of basal and dynamic hormone tests. Adrenal vein sampling (AVS was performed to localize a functioning adrenal cortical mass. AVS results were consistent with hypersecretion of cortisol from both adrenal glands, with a cortisol lateralization ratio of 1.1. Upon bilateral laparoscopic adrenalectomy, bilateral ACTH-independent adrenal adenomas were found. The patient's signs and symptoms of Cushing Syndrome improved after surgery just as the blood pressure was normalized. After surgery, the patient was started on glucocorticoid and mineralocorticoid replacement therapy.

  1. Mason & Dixon and Hamlet

    Directory of Open Access Journals (Sweden)

    Celia Wallhead

    2014-08-01

    Full Text Available Although there is no explicit comparison in 'Mason & Dixon' of the astronomer protagonist Charles Mason to the eponymous hero of Shakespeare's masterpiece, indisputable references to the play are to be found in the novel. Mason is endowed with qualities which mirror Hamlet's virtues and vices: he is a leader and a man of education and wit, though his metaphysical longings entice him towards madness and suicide. He is emburdened with a  deep melancholy stemming from bereavement, loss of love, the hauntings of a ghost, indecision, even cowardice and frustrated ambition.

  2. Bilateral adrenal hemorrhage and primary antiphospholipid antibody syndrome

    International Nuclear Information System (INIS)

    Garcia de Iturrospe, C.; Quilez, I.J.; Echevarria, J.J.

    1996-01-01

    Bilateral adrenal hemorrhage is an uncommon entity that is difficult to diagnose given the ambiquity of the clinical signs. Computerized tomography plays a major role in the diagnosis, disclosing enlarged adrenal glands presenting the hyperdense aspect that characterizes this disorders. We present a case of bilateral adrenal hemoorrhage in a patient diagnosed as having primary antiphospholipid antibody syndrome, which is a less common cause of adrenal hemorrhage than those classically reported, such as anticoagulant therapy, sepsis, shock and abdominal injury. (Author) 8 refs

  3. Beckwith-Wiedemann syndrome and bilateral adrenal pheochromocytoma: sonography and MRI findings

    Energy Technology Data Exchange (ETDEWEB)

    Baldisserotto, Matteo; Peletti, Adriana Barcellos; Araujo, Manoel Angelo de; Pertence, Ana Paula Cardoso; Dora, Marcelo Dourado; Maciel, Elines Oliva; Gaiger, Ana Maria [Hospital da Crianca Conceicao, Departamento de Radiologia, Porto Alegre, RS (Brazil)

    2005-11-01

    Beckwith-Wiedemann syndrome is characterized by a group of clinical abnormalities, the most frequent of which are omphalocele, macroglossia, gigantism, neonatal hypoglycemia and umbilical hernia. The association of this syndrome with malignant tumors is well documented. We report a child with this syndrome associated with bilateral adrenal pheochromocytoma. (orig.)

  4. Beckwith-Wiedemann syndrome and bilateral adrenal pheochromocytoma: sonography and MRI findings

    International Nuclear Information System (INIS)

    Baldisserotto, Matteo; Peletti, Adriana Barcellos; Araujo, Manoel Angelo de; Pertence, Ana Paula Cardoso; Dora, Marcelo Dourado; Maciel, Elines Oliva; Gaiger, Ana Maria

    2005-01-01

    Beckwith-Wiedemann syndrome is characterized by a group of clinical abnormalities, the most frequent of which are omphalocele, macroglossia, gigantism, neonatal hypoglycemia and umbilical hernia. The association of this syndrome with malignant tumors is well documented. We report a child with this syndrome associated with bilateral adrenal pheochromocytoma. (orig.)

  5. Laparoscopic bilateral transperitoneal adrenalectomy for Cushing syndrome: surgical challenges and lessons learnt.

    Science.gov (United States)

    Aggarwal, Sandeep; Yadav, Kunal; Sharma, Aditya P; Sethi, Vrishketan

    2013-06-01

    Laparoscopic adrenalectomy is well established for treatment of adrenal lesions. However, bilateral adrenalectomy for Cushing syndrome is a challenging and time-consuming operation. We report our experience of laparoscopic bilateral adrenalectomy for this disease in 19 patients. From September 2009 to August 2012, we have operated 19 patients with Cushing syndrome and performed bilateral laparoscopic adrenalectomy using the transperitoneal approach; synchronous in 15 patients and staged in 4 patients. In 15 patients, the surgery was carried out sequentially on both the sides in lateral position with intraoperative change in position. Complete adrenalectomy including periadrenal fat was carried out on both the sides. Nineteen patients were referred from Department of Endocrinology for bilateral adrenalectomy for adrenocorticotropin hormone (ACTH)-dependent and ACTH-independent Cushing syndrome. The indications for surgery were Cushing disease in 15 patients, occult/ectopic source of ACTH in 2 patients, and primary adrenal hyperplasia in 2 patients. Fifteen patients underwent bilateral adrenalectomy during the same operation. Four patients underwent staged procedures. All procedures were completed laparoscopically with no conversions. The mean operating time for simultaneous bilateral adrenalectomy was 210 minutes (range, 150 to 240 min). This included the repositioning and reprepping time. There were no major intraoperative complications. The average blood loss was 100 mL (range, 50 to 200 mL). None of the patients required blood transfusions in the postoperative period. The postoperative complications included minor port-site infection in 2 patients. One severely debilitated patient died on the 14th postoperative day because of hospital-acquired pneumonia. The remaining 18 patients have done well in terms of impact on the disease. Laparoscopic bilateral adrenalectomy for Cushing syndrome is feasible and safe. It confers all the advantages of minimally invasive

  6. Bilateral Ramsay Hunt syndrome in a diabetic patient

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    Goyal Amit

    2004-12-01

    Full Text Available Abstract Background Herpes zoster oticus accounts for about 10% cases of facial palsy, which is usually unilateral and complete and full recovery occurs in only about 20% of untreated patients. Bilateral herpes zoster oticus can sometime occur in immunocompromised patients, though incidence is very rare. Case presentation Diabetic male, 57 year old presented to us with bilateral facial palsy due to herpes zoster oticus. Patient was having bilateral mild to moderate sensorineural hearing loss. Patient was treated with appropriate metabolic control, anti-inflammatory drugs and intravenous acyclovir. Due to uncontrolled diabetes, glucocorticoids were not used in this patient. Significant improvement in hearing status and facial nerve functions were seen in this patient. Conclusions Herpes zoster causes severe infections in diabetic patients and can be a cause of bilateral facial palsy and bilateral Ramsay Hunt syndrome. Herpes zoster in diabetic patients should be treated with appropriate metabolic control, NSAIDS and intravenous acyclovir, which we feel should be started at the earliest. Glucocorticoids should be avoided in diabetic patients.

  7. Bilateral adrenalectomy for Cushing's syndrome: Pros and cons

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    O P Prajapati

    2015-01-01

    Full Text Available Aim: To assess the outcome of patients undergoing bilateral adrenalectomy for Cushing's syndrome (CS. Methods: All patients who underwent bilateral adrenalectomy for CS at the Department of Endocrine Surgery, Sanjay Gandhi Postgraduate Institute of Medical Sciences hospital between 1991 and 2013 were included. Medical records were reviewed to obtain patient characteristics and follow-up data. Results: Twenty-seven patients were studied. Mean age was 28.74 ± 12.95 years (range 9–60, male:female ratio was 1.7:1. About half that is, 48.19% were of Cushing's disease (failed trans-sphenoidal surgery [TSS], 37.04% were of ectopic CS (ECS, and 14.81% were of CS due to bilateral adrenal pathology. Median follow-up period was 80.5 months. Before surgery, 74.1% patients had body mass index > which after surgery declined to <25 in 75% of them. Hypertension was present in 85.2% and after surgery resolved in 40%. Diabetes mellitus was present in 44.4% and after surgery resolved in 33% of them. Hirsutism and proximal muscle weakness were present in 55.6% and 70.4% patients, respectively, and after surgery improved markedly in all patients. Adrenal crisis developed in 36.3% and Nelson's syndrome in 41.7% patients during follow-up. Three patients died in perioperative period while three succumbed to the disease during follow-up. Two patients developed recurrence of endogenous cortisol production during the follow-up period. Conclusions: Bilateral adrenalectomy is a valid treatment option for palliating severe symptoms in Pituitary Cushing's with failed TSS and unlocalized ECS but the procedure is curative for CS due to bilateral adrenal disease. Overall morbidity and mortality is higher than other endocrine operations. Co-morbidities tend to be more severe and are a risk factor for mortality during the time patient survives.

  8. Unusual presentation of Sturge-Weber syndrome: Progressive megalencephaly with bilateral cutaneous and cortical involvement

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    Kundan Mittal

    2014-01-01

    Full Text Available The Sturge Weber syndrome is characterized by developmental delay, seizures in infancy, unilateral cutaneous lesions with ipsilateral leptomeningeal enhancement. We report an unusual presentation of Sturge Weber syndrome with bilateral port wine nevus on the trunk and face along with bilateral cortical involvement in a developmentally normal child with progressive megalencephaly.

  9. Bilateral renal dysplasia, nephroblastomatosis, and bronchial stenosis. A new syndrome?

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    Rodriguez, Maria Matilde; Correa-Medina, Mayrin; Whittington, Elizabeth E

    2015-06-01

    Bilateral nephroblastomatosis (NB) is an uncommon renal anomaly characterized by multiple confluent nephrogenic rests scattered through both kidneys, with only a limited number of cases reported in the medical literature. Some of these children may have associated either Perlman or Beckwith-Wiedemann syndrome and others do not demonstrate syndromic features. We report a full-term boy with anteverted nose, bilateral bronchial stenosis due to lack of cartilage, bilateral obstructive renal dysplasia and NB with glomeruloid features. The infant had visceromegaly, but neither gigantism nor hemihypertrophy. Immunohistochemistry for PAX2 (Paired box gene-2) and WT-1 (Wilms Tumor 1) were strongly positive in the areas of NB. GLEPP-1 (Glomerular Epithelial Protein) did not stain the areas of NB with a glomeruloid appearance, but was positive in the renal glomeruli as expected. We found neither associated bronchial stenosis nor the histology of NB resembling giant glomeruli in any of the reported cases of NB.

  10. [Bilateral "crocodile tears syndrome" associated with Melkersson-Rosenthal syndrome--case report].

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    Owecki, Michał K; Kapelusiak-Pielok, Magdalena; Kowal, Piotr; Kozubski, Wojciech

    2006-01-01

    We present a rare case of bilateral crocodile tears syndrome (CTS) in the course of Melkersson-Rosenthal syndrome. Melkersson-Rosenthal syndrome is characterised by a triad of recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue. The classic triad is infrequent and oligosymptomatic variants are seen more frequently. CTS is a rare complication of facial nerve paralysis characterised by inappropriate lacrimation on the side of the palsy in response to salivary stimuli. It results from aberrant reinnervation of the lacrimal gland by salivary parasympathetic fibres. The therapeutic approach for an acute bout of Melkersson-Rosenthal syndrome consists mainly of steroid administration. CTS management is composed of anticholinergic drugs and surgical procedures. Botulin toxin injection into the lacrimal gland is the most modern therapeutic option. In the case presented CTS developed in a 50-year-old man after 5 incidents of facial palsy due to Melkersson-Rosenthal syndrome. The case deserves attention due to the rarity of the observed symptoms and signs.

  11. Gorlin Syndrome with Bilateral Polydactyly: A Rare Case Report

    Science.gov (United States)

    Acharya, Sonu; Panda, Swagatika; Sahoo, Sujit Ranjan; Ray, Prayas

    2013-01-01

    ABSTRACT Gorlin's syndrome is a rare disorder transmitted as an autosomal dominant trait. It is characterized by multiple disorders involving multiple systems. We present a case of 11-year-old male child presenting with multiple odontogenic keratocyst to the dental clinic. Retrograde diagnosis of Gorlin-Goltz syndrome was made after clinical and radiological investigation. How to cite this article: Acharya S, Panda S, Dhull KS, Sahoo SR, Ray P. Gorlin Syndrome with Bilateral Polydactyly: A Rare Case Report. Int J Clin Pediatr Dent 2013;6(3):208-212. PMID:25206225

  12. The French Masonic Tributes to Abraham Lincoln

    OpenAIRE

    Olivier Frayssé; Laurence Grégoire

    2016-01-01

    Lincoln’s assassination in April 1865 sparked off a real shock wave in the United States as well as abroad. In France, as in the US, many Masonic institutions and Freemasons took initiatives to honor the memory of the great man, whose virtues were glorified and likened to Masonic values and were often based on the assumption that Lincoln was a Mason himself. However, French Freemasonry was highly politicized, and a close examination of the Masonic tributes to Lincoln also tells the story of a...

  13. Cement Mason's Curriculum. Instructional Units.

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    Hendirx, Laborn J.; Patton, Bob

    To assist cement mason instructors in providing comprehensive instruction to their students, this curriculum guide treats both the skills and information necessary for cement masons in commercial and industrial construction. Ten sections are included, as follow: related information, covering orientation, safety, the history of cement, and applying…

  14. Surgical tactic of high bilateral abdominal testicular retention in patient with a prune belly syndrome

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    I. A. Panchenko

    2014-11-01

    Full Text Available Bilateral abdominal cryptorchism in combination with other defects of urogenital system and a prune belly syndrome keep within a syndrome of connective tissue dysplasia. In our medical center developed the method of surgical correction of a high bilateral abdominal testicular retention with preservation of vessels.

  15. Surgical tactic of high bilateral abdominal testicular retention in patient with a prune belly syndrome

    Directory of Open Access Journals (Sweden)

    I. A. Panchenko

    2013-01-01

    Full Text Available Bilateral abdominal cryptorchism in combination with other defects of urogenital system and a prune belly syndrome keep within a syndrome of connective tissue dysplasia. In our medical center developed the method of surgical correction of a high bilateral abdominal testicular retention with preservation of vessels.

  16. Bilateral pial synangiosis in a child with PHACE syndrome.

    Science.gov (United States)

    Jack, Andrew S; Chow, Michael M; Fiorillo, Loretta; Chibuk, Thea; Yager, Jerome Y; Mehta, Vivek

    2016-01-01

    The acronym PHACE has been used to denote a constellation of abnormalities: posterior fossa anomalies, facial hemangiomas, arterial anomalies, cardiac anomalies, and eye abnormalities. Approximately 30% of patients with large facial hemangiomas have PHACE syndrome, with the vast majority having intracranial arteriopathy. Few reports characterize neurological deterioration from this intracranial arteriopathy, and even fewer report successful treatment thereof. The authors report on a case of a child with PHACE syndrome who presented with an ischemic stroke from a progressive intracranial arteriopathy and describe her successful treatment with bilateral pial synangiosis. An 8-month old girl diagnosed with PHACE syndrome was found to have bilateral internal carotid artery stenosis. Although initially asymptomatic, a few months after diagnosis she suffered a right frontal and parietal stroke. MRI and cerebral angiography investigations demonstrated progressive intracranial arterial stenosis and occlusion. The patient then underwent indirect cerebral revascularization surgery. At 2-year follow-up, she exhibited clinical improvement with persistent speech and motor developmental delay. Follow-up MRI and cerebral angiography showed no new ischemic events and robust extensive vascular collateralization from surgery. PHACE syndrome is an uncommon disease, and affected patients often have cerebral arteriopathy. Although the underlying natural history of cerebral arteriopathy in PHACE remains unclear, cerebral revascularization may represent a potential therapy for symptomatic patients.

  17. Simultaneous bilateral cochlear implantation in a five-month-old child with Usher syndrome.

    Science.gov (United States)

    Alsanosi, A A

    2015-09-01

    To report a rare case of simultaneous bilateral cochlear implantation in a five-month-old child with Usher syndrome. Case report. A five-month-old boy with Usher syndrome and congenital profound bilateral deafness underwent simultaneous bilateral cochlear implantation. The decision to perform implantation in such a young child was based on his having a supportive family and the desire to foster his audiological development before his vision deteriorated. The subject experienced easily resolvable intra- and post-operative adverse events, and was first fitted with an externally worn audio processor four weeks after implantation. At 14 months of age, his audiological development was age-appropriate. Simultaneous bilateral cochlear implantation is possible, and even advisable, in children as young as five months old when performed by an experienced implantation team.

  18. Bilateral Sturge-Weber Syndrome and glaucoma controlled with Ahmed valve implant

    Directory of Open Access Journals (Sweden)

    Marcelo Jarczun Kac

    2015-02-01

    Full Text Available Sturge-Weber Syndrome is a rare neuro-oculocutaneous disorder. The authors describe the case of a 13 years old boy, presented with bilateral Sturge-Weber Syndrome and glaucoma. Surgical treatment with Ahmed valve implantation in both eyes was carried out achieving lower levels of intraocular pressure.

  19. [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.

  20. A Case of Swyer-James (Macleod’s Syndrome with Bilateral Involvement

    Directory of Open Access Journals (Sweden)

    Ömer Özbudak

    2005-01-01

    Full Text Available Swyer-James (Macleod’s syndrome (SJMS is a rare disorder thought to be a complication of childhood infections. Unilateral hyperlucency, reduced lung volume, diminished vascular markings and bronchiectasis may be detected on radiological analysis. Bilateral involvement is rare. We present a 20-yearl-old man who was diagnosed as having bilateral SJMS by radiological analysis and ventilation-perfusion scintigraphy.

  1. Catastrophic Antiphospholipid Syndrome Presenting as Bilateral Central Retinal Artery Occlusions

    Directory of Open Access Journals (Sweden)

    Steven S. Saraf

    2015-01-01

    Full Text Available A previously healthy 22-year-old African American woman presented with bilateral vision loss associated with headache. Her ocular examination was significant for bilateral retinal arterial “boxcarring,” retinal whitening, retinal hemorrhages, and cherry red spots. She was diagnosed with bilateral central retinal artery occlusions and was hospitalized due to concomitant diagnosis of stroke and hypercoagulable state. She was also found to be in heart failure and kidney failure. Rheumatology was consulted and she was diagnosed with catastrophic antiphospholipid syndrome in association with systemic lupus erythematosus. Approximately 7 months after presentation, the patient’s vision improved and remained stable at 20/200 and 20/80.

  2. Bilateral post-traumatic gluteal compartment syndrome: A case report and review of literature

    Directory of Open Access Journals (Sweden)

    Devashis Barick

    2015-01-01

    Full Text Available Gluteal compartment is a rare site for compartment syndrome. Gluteal compartment syndrome has most commonly been described in the literature as occurring after prolonged immobility associated with substance abuse, improper operative positioning, sickle cell-induced infarct, post-traumatic and spontaneous superior gluteal artery rupture, exercise, and post-arterial embolization of the internal iliac artery prior to abdominal aortic aneurysm repair. Trauma is rarely associated with this syndrome. Gluteal compartment syndrome occurs in approximately 0.9% of trauma patients. Posttraumatic gluteal compartment syndrome develops because of edema with traumatic contusions, crush injuries and hematoma formation due to blunt superior or inferior gluteal artery injuries in all compartments of the gluteal region Only 6 previous cases have been reported in the literature. Two previous cases involved positioning for urological procedures, while the other cited causes of bilateral gluteal compartment syndrome include exercise-induced, trauma, and prolonged immobilization from substance abuse. One of the most immediately devastating results of a missed compartment syndrome is the risk of the development of rhabdomyolysis with the resulting squeal of myoglobinuria, hyperkalemia, and acidosis resulting in renal failure, shock, multiple organ failure, disseminated intravascular coagulation, and possibly death. Here we report a case of posttraumatic bilateral compartment syndrome which developed secondary to pressure due to patient being trapped under a vehicle following a vehicular accident. He was operated upon and a bilateral fasciotomy was done. Although he did not develop any renal complications, the sciatic nerve palsy on the left side did not recover. The patient is still under follow up.

  3. Modified Mason number for charged paramagnetic colloidal suspensions

    Science.gov (United States)

    Du, Di; Hilou, Elaa; Biswal, Sibani Lisa

    2016-06-01

    The dynamics of magnetorheological fluids have typically been described by the Mason number, a governing parameter defined as the ratio between viscous and magnetic forces in the fluid. For most experimental suspensions of magnetic particles, surface forces, such as steric and electrostatic interactions, can significantly influence the dynamics. Here we propose a theory of a modified Mason number that accounts for surface forces and show that this modified Mason number is a function of interparticle distance. We demonstrate that this modified Mason number is accurate in describing the dynamics of a rotating pair of paramagnetic colloids of identical or mismatched sizes in either high or low salt solutions. The modified Mason number is confirmed to be pseudoconstant for particle pairs and particle chains undergoing a stable-metastable transition during rotation. The interparticle distance term can be calculated using theory or can be measured experimentally. This modified Mason number is more applicable to magnetorheological systems where surface forces are not negligible.

  4. A case of adrenal Cushing’s syndrome with bilateral adrenal masses

    Directory of Open Access Journals (Sweden)

    Ya-Wun Guo

    2016-05-01

    Full Text Available A functional lesion in corticotrophin (ACTH-independent Cushing’s syndrome is difficult to distinguish from lesions of bilateral adrenal masses. Methods for distinguishing these lesions include adrenal venous sampling and 131I-6β-iodomethyl-19-norcholesterol (131I-NP-59 scintigraphy. We present a case of a 29-year-old Han Chinese female patient with a history of hypercholesterolaemia and polycystic ovary syndrome. She presented with a 6month history of an 8kg body weight gain and gradual rounding of the face. Serial examinations revealed loss of circadian rhythm of cortisol, elevated urinary free-cortisol level and undetectable ACTH level (<5pg/mL. No suppression was observed in both the low- and high-dose dexamethasone suppression tests. Adrenal computed tomography revealed bilateral adrenal masses. Adrenal venous sampling was performed, and the right-to-left lateralisation ratio was 14.29. The finding from adrenal scintigraphy with NP-59 was consistent with right adrenal adenoma. The patient underwent laparoscopic right adrenalectomy, and the pathology report showed adrenocortical adenoma. Her postoperative cortisol level was 3.2μg/dL, and her Cushingoid appearance improved. In sum, both adrenal venous sampling and 131I-NP-59 scintigraphy are good diagnostic methods for Cushing’s syndrome presenting with bilateral adrenal masses.

  5. Carpal ligamentous laxity with bilateral perilunate dislocation in Marfan syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Pennes, D R; Braunstein, E M; Shirazi, K K

    1985-01-01

    A case of persistent bilateral perilunate dislocation unrelated to trauma in a patient with Marfan syndrome is discussed. This finding is believed to be a manifestation of the generalized ligamentous laxity occurring in this disorder. Radiographs of eight additional Marfan syndrome patients failed to demonstrate similar carpal instability. Because some carpal derangements are dynamic events, stress views or wrist fluoroscopy may be necessary to demonstrate unsuspected carpal instability in Marfan patients.

  6. Bilateral condylar resorption in down syndrome.

    Science.gov (United States)

    Grippaudo, Cristina; Grippaudo, Francesca Romana; Marianetti, Tito Matteo; Cacucci, Laura; Deli, Roberto; Pelo, Sandro

    2014-11-01

    Asymptomatic idiopathic condylar resorption is a rare disease of difficult diagnosis and treatment. We review the literature about this rare condition and report a case of a patient, affected by Down syndrome, who underwent a complete untreated bilateral condylar resorption in adolescence and then developed pain on chewing only 20 years later. Despite a precise orthodontic and surgical therapeutic plan, treatment had to be discontinued because of patient lack of compliance. This case is the first of its kind to be reported and emphasizes the need for special attention in patients with disability.

  7. The French Masonic Tributes to Abraham Lincoln

    Directory of Open Access Journals (Sweden)

    Olivier Frayssé

    2016-05-01

    Full Text Available Lincoln’s assassination in April 1865 sparked off a real shock wave in the United States as well as abroad. In France, as in the US, many Masonic institutions and Freemasons took initiatives to honor the memory of the great man, whose virtues were glorified and likened to Masonic values and were often based on the assumption that Lincoln was a Mason himself. However, French Freemasonry was highly politicized, and a close examination of the Masonic tributes to Lincoln also tells the story of a bitter political strife thinly veiled by the literary genre of eulogies, the fight of democracy against imperial rule. This fight of 1865 led to the creation of the Statue of Liberty, via the Lincoln medal.

  8. Carpal ligamentous laxity with bilateral perilunate dislocation in Marfan syndrome

    International Nuclear Information System (INIS)

    Pennes, D.R.; Braunstein, E.M.; Shirazi, K.K.

    1985-01-01

    A case of persistent bilateral perilunate dislocation unrelated to trauma in a patient with Marfan syndrome is discussed. This finding is believed to be a manifestation of the generalized ligamentous laxity occurring in this disorder. Radiographs of eight additional Marfan syndrome patients failed to demonstrate similar carpal instability. Because some carpal derangements are dynamic events, stress views or wrist fluoroscopy may be necessary to demonstrate unsuspected carpal instability in Marfan patients. (orig.)

  9. Cerebrofacial venous metameric syndrome (CVMS) 3: Sturge-Weber syndrome with bilateral lymphatic/venous malformations of the mandible

    International Nuclear Information System (INIS)

    Ramli, N.; Sachet, M.; Bao, C.; Lasjaunias, P.

    2003-01-01

    We present a case of Sturge-Weber syndrome with a bilateral lymphatic/venous malformation of the mandible. Modern biology suggests an explanation for such a case. The classification of cerebrofacial venous metameric syndromes (CVMS) enables us to recognise this lesion as involving the most caudal of the cranial metamere (CVMS 3). (orig.)

  10. Progressive bilateral anterior sacral meningoceles in Marfan syndrome

    International Nuclear Information System (INIS)

    Scheck, R.J.; Schramm, T.; Gloning, K.P.; Vogl, T.; Ostermayer, E.

    1995-01-01

    Anterior sacral meningoceles (ASM) in Marfan syndrome are rare. They may cause constipation, urinary frequency, dysmenorrhoea, and low back pain or numbness. This report describes bilateral ASM at the level of S1, S2 and S3 in a woman with Marfan syndrome who was admitted to the gynaecology department for evaluation of left lower abdominal pain. The magnetic resonance appearance of the meningoceles is discussed and compared with findings from transvaginal ultrasound and CT. As MRI offers excellent delineation of spinal and pelvic structures, it is the most useful technique available in establishing the diagnosis and planning the treatment of ASM. (orig.)

  11. Progressive bilateral anterior sacral meningoceles in Marfan syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Scheck, R J [Dept. of Radiology, Univ. Muenchen (Germany); Schramm, T [Dept. of Gynaecology and Obstetrics, 1. Frauenklinik, Univ. Muenchen (Germany); Gloning, K P [Dept. of Gynaecology and Obstetrics, 1. Frauenklinik, Univ. Muenchen (Germany); Vogl, T [Dept. of Radiology, Univ. Muenchen (Germany); Ostermayer, E [Dept. of Gynaecology and Obstetrics, 1. Frauenklinik, Univ. Muenchen (Germany)

    1995-08-01

    Anterior sacral meningoceles (ASM) in Marfan syndrome are rare. They may cause constipation, urinary frequency, dysmenorrhoea, and low back pain or numbness. This report describes bilateral ASM at the level of S1, S2 and S3 in a woman with Marfan syndrome who was admitted to the gynaecology department for evaluation of left lower abdominal pain. The magnetic resonance appearance of the meningoceles is discussed and compared with findings from transvaginal ultrasound and CT. As MRI offers excellent delineation of spinal and pelvic structures, it is the most useful technique available in establishing the diagnosis and planning the treatment of ASM. (orig.)

  12. Bilateral widespread mechanical pain sensitivity in carpal tunnel syndrome: evidence of central processing in unilateral neuropathy.

    Science.gov (United States)

    Fernández-de-las-Peñas, César; de la Llave-Rincón, Ana Isabel; Fernández-Carnero, Josué; Cuadrado, María Luz; Arendt-Nielsen, Lars; Pareja, Juan A

    2009-06-01

    The aim of this study was to investigate whether bilateral widespread pressure hypersensitivity exists in patients with unilateral carpal tunnel syndrome. A total of 20 females with carpal tunnel syndrome (aged 22-60 years), and 20 healthy matched females (aged 21-60 years old) were recruited. Pressure pain thresholds were assessed bilaterally over median, ulnar, and radial nerve trunks, the C5-C6 zygapophyseal joint, the carpal tunnel and the tibialis anterior muscle in a blinded design. The results showed that pressure pain threshold levels were significantly decreased bilaterally over the median, ulnar, and radial nerve trunks, the carpal tunnel, the C5-C6 zygapophyseal joint, and the tibialis anterior muscle in patients with unilateral carpal tunnel syndrome as compared to healthy controls (all, P < 0.001). Pressure pain threshold was negatively correlated to both hand pain intensity and duration of symptoms (all, P < 0.001). Our findings revealed bilateral widespread pressure hypersensitivity in subjects with carpal tunnel syndrome, which suggest that widespread central sensitization is involved in patients with unilateral carpal tunnel syndrome. The generalized decrease in pressure pain thresholds associated with pain intensity and duration of symptoms supports a role of the peripheral drive to initiate and maintain central sensitization. Nevertheless, both central and peripheral sensitization mechanisms are probably involved at the same time in carpal tunnel syndrome.

  13. Masonería y política: una nueva cara del rito masonería- revolución. ¿La masonería tiene una ideología y "hace política"? ¿Los políticos fueron y son tales porque fueron masones y los masones siempre fueron hombres que tomaron partido o fueron de partido?

    Directory of Open Access Journals (Sweden)

    Aldo ALESSANDRO MOLA

    2010-02-01

    Full Text Available RESUMEN: ¿La Masonería es depositaria de una doctrina política y de un programa político? Hubo un tiempo en que «política» significaba educación, gobierno de la polis, es decir, de los ciudadanos (que para ser titulares de derechos y de deberes debían ser necesariamente cultos. Ahora, en la edad del universalismo, por política se entiende la administración de las necesidades. ¿Cuál es el papel de la Masonería ante el hombre secularizado? A la Masonería se le han atribuido objetivos partidistas: la lucha contra el poder del clero y las doctrinas religiosas, contra la monarquía (pero esto no es válido para las organizaciones masónicas de Gran Bretaña, Países Bajos, Bélgica, Grecia y, en muchos épocas, también para Italia, España, incluso Francia, donde la Masonería fue borbónica y bonapartista, el militarismo (aunque muchos oficiales y suboficiales fueron masones… La comprobación de la autenticidad de los objetivos de las organizaciones masónicas se puede llevar a cabo analizando si algunos masones famosos eran sólo famosos o eran además masones. Sirvan como ejemplo Azaña, Voltaire, Cavour, Mazzini, Garibaldi ... Ya que no es religión, la Masonería no es política politicienne, ni una revolución permanente. La elección entre «educación» y «administración de las necesidades». Palabras clave: Política, Naciones/Nacionalismo, Risorgimento y Unificación italiana, Masonería e Ilustración, Masonería y Revolución, Educación y Tolerancia, Programa de partido = administración de las necesidades. ABSTRACT: Is masonry the repository of a political doctrine and a political programme? There was a time when politics meant education, government of the polis, i. e. of the citizens (who, to have rights and duties, must necessarily be educated. Now, in the age of universalism, by politics we understand the administration of needs. What is the role of masonry in the face of secularized man? Masonry has been

  14. Bilateral acute lupus pneumonitis in a case of rhupus syndrome

    Directory of Open Access Journals (Sweden)

    Supriya Sarkar

    2012-01-01

    Full Text Available Rhupus syndrome, the overlap of rheumatoid arthritis (RA and systemic lupus erythematosus (SLE, is an extremely uncommon condition. Organ damages found due to SLE are usually mild in rhupus. Lupus pneumonitis in rhupus syndrome has not been reported worldwide. We are reporting a 23-year-old female with bilateral symmetric erosive arthritis, oral ulcer, alopecia, polyserositis, anemia, leucopenia, positive RA-factor, anti nuclear antibody (ANA and anti ds-DNA. She presented with acute onset dyspnea, high fever, chest pain, tachycardia, tachypnea, hypoxia and respiratory alkalosis. High resolution computed tomography (HRCT-thorax showed bilateral, basal consolidation with air bronchogram. Repeated sputum and single broncho alveolar lavage (BAL fluid examination revealed no organism or Hemosiderin-laden macrophage. The diagnosis of rhupus was confirmed by combined manifestations of RA and SLE, and the diagnosis of acute lupus pneumonitis was established by clinico-radiological picture and by excluding other possibilities.

  15. 46,XY female sex reversal syndrome with bilateral gonadoblastoma and dysgerminoma.

    Science.gov (United States)

    DU, Xue; Zhang, Xuhong; Li, Yongmei; Han, Yukun

    2014-10-01

    Sex reversal syndrome is a rare congenital condition of complete or disordered gonadal development leading to discordance between the genetic, gonadal and phenotypic sexes, including 46,XX and 46,XY. The gonadoblastoma on the Y-chromosome (GBY) region is associated with an increased risk of developing type II germ cell tumors/cancer. The present study reports a unique case of a phenotypically normal female (age 17 years), presenting with primary amenorrhea and later diagnosed with 46,XY female sex reversal syndrome. Following bilateral gonadectomy, bilateral gonadoblastoma and dysgerminoma were diagnosed. Thus, estrogen replacement therapy was administered periodically to promote the development of secondary sexual characteristics and menstruation, and to prevent osteoporosis. A four year follow-up showed no tumor recurrence and a regular menstrual cycle in this patient.

  16. Bilateral inverse Duane′s retraction syndrome-A case report

    Directory of Open Access Journals (Sweden)

    Chatterjee Pranab

    1991-01-01

    Full Text Available Duane′s retraction syndrome is a well known congenital musculo-facial anomaly. Various explanations have been given for the aetiology of this syndrome. Inverse Duane′s retraction syndrome is a condition with reverse clinical features. Abduction of the affected eye is possible to some extent and is accompanied by retraction of the eyeball, narrowing of the palpebral fissure and pseudoptosis. There may be some restriction of movement on adduction. The primary lesion is suspected to be in the medial rectus muscle. Frequently the muscle is found to be entrapped following trauma to the medial wall of the orbit. A case of bilateral inverse Duane′s retraction syndrome and convergent squint along with left-sided perceptive deafness is reported. As is usually the case there was no structural abnormality or entrapment of the muscle from trauma.

  17. Celiac artery compression syndrome with bilateral Bochdalek hernia

    International Nuclear Information System (INIS)

    Kara, K.; Verim, S.; Bozkurt, Y.; Tasar, M.

    2012-01-01

    Full text: Introduction: Celiac artery compression syndrome or median arcuate ligament syndrome is rare and controversial condition. The definition of the syndrome relies on a combination of both clinical and radiographic features. It typically occurs in young patients, who may present with epigastric pain and weight loss. Bochdalek hernia is the most common congenital diaphragmatic hernia in adults. Bilaterality of this pathology is rare. There are not many reports about the associated pathologies to Bochdalek hernia. Objectives and tasks: We aimed to demonstrate the computed tomography (CT) angiography findings of celiac artery compression syndrome with Bochdalek hernia that has detected incidentally. Materials and methods: A CT angiography was performed to 32-year-old patient having postphelebitic syndrome for the possible diagnosis as pulmonary embolus. Results: At the imaging pulmonary arteries and the branches were normal. Celiac artery compression syndrome with Bochdalek Hernia was detected incidentally. A %75 stenosis at the origin of celiac artery and post stenotic dilatation after the stenosis was seen due to the compression. A poster medial defect at the diaphragm was seen as an additional finding for the cause of Bochdalek hernia. Conclusion: Many incidental finding can be detected at vascular and non vascular area in the routine CT angiography imaging. The pathologies like celiac artery compression syndrome and congenital diaphragm pathologies can be detected easily at CT angiography method

  18. BILATERAL SEROUS MACULAR DETACHMENT IN A PATIENT WITH NEPHROTIC SYNDROME.

    Science.gov (United States)

    Bilge, Ayse D; Yaylali, Sevil A; Yavuz, Sara; Simsek, İlke B

    2018-01-01

    The purpose of this study was to report a case of a woman with nephrotic syndrome who presented with blurred vision because of bilateral serous macular detachment. Case report and literature review. A 55-year-old woman with a history of essential hypertension, diabetes, and nephrotic syndrome was presented with blurred vision in both eyes. Her fluorescein angiography revealed dye leakage in the early and subretinal pooling in the late phases, and optical coherence tomography scans confirmed the presence of subretinal fluid in the subfovel area. In nephrotic syndrome cases especially with accompaniment of high blood pressure, fluid accumulation in the retina layer may occur. Serous macular detachment must be kept in mind when treating these patients.

  19. Bilateral adrenal cystic neuroblastoma with superior vena cava syndrome and massive intracystic haemorrhage

    International Nuclear Information System (INIS)

    Pinarli, Faruk Guclu; Danaci, Murat; Diren, Baris; Tander, Burak; Rizalar, Riza; Dagdemir, Ayhan; Acar, Sabri

    2004-01-01

    Bilateral cystic adrenal tumours are a rare presentation of neuroblastoma. Intratumoural haemorrhage is a frequent finding in neuroblastoma, but is rarely symptomatic. We present an 11-month-old girl with predominantly cystic bilateral neuroblastomas and distant lymph-node metastasis. Massive intracystic haemorrhage and superior vena cava (SVC) syndrome were ominous prognostic factors, leading to death. Large tumours with intracystic haemorrhage might require a conservative approach. (orig.)

  20. Bilateral hypertrophic olivary nucleus degeneration on magnetic resonance imaging in children with Leigh and Leigh-like syndrome.

    Science.gov (United States)

    Bindu, P S; Taly, A B; Sonam, K; Govindaraju, C; Arvinda, H R; Gayathri, N; Bharath, M M Srinivas; Ranjith, D; Nagappa, M; Sinha, S; Khan, N A; Thangaraj, K

    2014-02-01

    Bilateral hypertrophic olivary degeneration on brain MRI has been reported in a few metabolic, genetic and neurodegenerative disorders, including mitochondrial disorders. In this report, we sought to analyse whether bilateral symmetrical inferior olivary nucleus hypertrophy is specifically associated with mitochondrial disorders in children. This retrospective study included 125 children (mean age, 7.6 ± 5 years; male:female, 2.6:1) diagnosed with various metabolic and genetic disorders during 2005-2012. The routine MRI sequences (T1 weighted, T2 weighted and fluid-attenuated inversion-recovery sequences) were analysed for the presence of bilateral symmetrical olivary hypertrophy and central tegmental tract or dentate nuclei signal changes. The other imaging findings and the final diagnoses were noted. The cohort included patients with Leigh and Leigh-like syndrome (n = 25), other mitochondrial diseases (n = 25), Wilson disease (n = 40), Type 1 glutaric aciduria (n = 14), maple syrup urine disease (n = 13), giant axonal neuropathy (n = 5) and L-2 hydroxy glutaric aciduria (n = 3). Bilateral inferior olivary nucleus hypertrophy was noted in 10 patients, all of whom belonged to the Leigh and Leigh-like syndrome group. Bilateral hypertrophic olivary degeneration on MRI is relatively often, but not routinely, seen in children with Leigh and Leigh-like syndrome. Early detection of this finding by radiologists and physicians may facilitate targeted metabolic testing in these children. This article highlights the occurrence of bilateral hypertrophic olivary nucleus degeneration on MRI in children with Leigh and Leigh-like syndrome, compared with other metabolic disorders.

  1. 78 FR 48294 - Amendment of Class E Airspace; Mason, TX

    Science.gov (United States)

    2013-08-08

    ...-1141; Airspace Docket No. 12-ASW-12] Amendment of Class E Airspace; Mason, TX AGENCY: Federal Aviation Administration (FAA), DOT. ACTION: Final rule. SUMMARY: This action amends Class E airspace at Mason, TX... Approach Procedures at Mason County Airport. This action enhances the safety and management of Instrument...

  2. 77 FR 65425 - Legg Mason ETF Trust, et al.; Notice of Application

    Science.gov (United States)

    2012-10-26

    ... Mason ETF Trust, et al.; Notice of Application October 22, 2012. AGENCY: Securities and Exchange...)(1)(A) and (B) of the Act. Applicants: Legg Mason ETF Trust (the ``Trust''), Legg Mason Partners Fund... offer three actively-managed investment series: Legg Mason Western Asset Ultra-Short Duration ETF, Legg...

  3. Bilateral catheterization of inferior petrosal sinous: Utility in Cushing syndrome

    International Nuclear Information System (INIS)

    Ferrer, Maria D; Fajardo, Carmen; Esteban Enrique; Cosin Octavio, Valldecabres Carmen; Reig, Marian

    2010-01-01

    The aim of this study is to present our experience on bilateral and simultaneous inferior petrous sinus catheterization, on those patients with ACTH -dependent Cushing's syndrome. We describe the procedure and our results. Material and Method: A retrospective study was held between January 2003 and September 2009, including nine patients (2 men, 7 women) presenting ACTH - dependent Cushing's syndrome. Simultaneous inferior petrosal sinus catheterization was performed in all of them, sampling basal ACTH and after CRH stimulation. ACTH levels gradient in different pituitary locations and peripheral blood levels was recorded. Diagnosis was suggested when inappropriate and maintained hypercortisolemia. High urinary free cortisol levels and no response to dexamethasone suppression were detected. Eight out of nine patients had a prior negative imaging test result. Results: Inferior petrosal sinus bilateral catheterization was successfully performed in all cases, with no evidence of further complications. The results showed definitive diagnosis in all cases. In four patients ACTH levels gradient was lateralized to the left, leading to a specific surgical approach. One patient presented pituitary ACTH - secreting adenoma. Two other patients showed ectopic ACTH production, one showed suprarenal adenoma secreting ACTH and other one showed response to pituitary stimulation without side lateralisation, presenting a histological diagnosis of pituitary hyperplasia. Conclusion: Petrosal sinus catheterization is shown to be an efficient procedure to manage Cushing's syndrome differential diagnosis and to obtain specific anatomical information.

  4. Pyogenic Granuloma in a Patient of Sturge-Weber Syndrome with Bilateral Port Wine Stain- A Rare Case Report

    Directory of Open Access Journals (Sweden)

    Shantala Arunkumar

    2014-07-01

    Full Text Available Sturge-Weber syndrome (SWS also known as encephalotrigeminal angiomatosis. It is a neurocutaneous syndrome, characterized by a facial vascular birthmark and neurological abnormalities. An ipsilateral or bilateral facial cutaneous vascular malformation Port Wine Stain (PWS usually affects the upper face. Other clinical manifestations are seizures, glaucoma, hemiparesis, mental retardation and delayed developmental milestones. The main objective of this case report is to unravel such a rarest syndrome with bilateral port-wine stain, which has intraoral manifestation of pyogenic granuloma involving gingiva in an 11 year old boy.

  5. Synchronous bilateral breast cancer in a patient with Klinefelter?s syndrome

    OpenAIRE

    Hoque, H M R; Kothari, A; Hamed, H; Fentiman, I S

    2010-01-01

    Synchronous bilateral male breast cancer (MBC) is rare and only a few cases have been reported in the literature. The majority of MBC patients have no definable risk factors. We describe a case with Klinefelter?s syndrome, prior thymic irradiation, testicular surgery, and first degree family history in a 61-year-old male.

  6. One-stage sequential bilateral thoracic expansion for asphyxiating thoracic dystrophy (Jeune syndrome).

    Science.gov (United States)

    Muthialu, Nagarajan; Mussa, Shafi; Owens, Catherine M; Bulstrode, Neil; Elliott, Martin J

    2014-10-01

    Jeune syndrome (asphyxiating thoracic dystrophy) is a rare disorder characterized by skeletal dysplasia, reduced diameter of the thoracic cage and extrathoracic organ involvement. Fatal, early respiratory insufficiency may occur. Two-stage lateral thoracic expansion has been reported, addressing each side sequentially over 3-12 months. While staged repair theoretically provides less invasive surgery in a small child with respiratory distress, we utilized a single stage, bilateral procedure aiming to rapidly maximize lung development. Combined bilateral surgery also offered the chance of rapid recovery, and reduced hospital stay. We present our early experience of this modification of existing surgical treatment for an extremely rare condition, thought to be generally fatal in early childhood. Nine children (6 males, 3 females; median age 30 months [3.5-75]) underwent thoracic expansion for Jeune syndrome in our centre. All patients required preoperative respiratory support (5 with tracheostomy, 8 requiring positive pressure ventilation regularly within each day/night cycle). Two children underwent sequential unilateral (2-month interval between stages) and 7 children bilateral thoracic expansion by means of staggered osteotomies of third to eighth ribs and plate fixation of fourth to fifth rib and sixth to seventh rib, leaving the remaining ribs floating. There was no operative mortality. There were 2 deaths within 3 months of surgery, due to pulmonary hypertension (1 following two-stage and 1 following single-stage thoracic expansion). At the median follow-up of 11 months (1-15), 3 children have been discharged home from their referring unit and 2 have significantly reduced respiratory support. One child remains on non-invasive ventilation and another is still ventilated with a high oxygen requirement. Jeune syndrome is a difficult condition to manage, but bilateral thoracic expansion offers an effective reduction in ventilator requirements in these children

  7. 75 FR 16529 - Legg Mason Partners Equity Trust, et al.; Notice of Application

    Science.gov (United States)

    2010-04-01

    ...] Legg Mason Partners Equity Trust, et al.; Notice of Application March 26, 2010. AGENCY: Securities and... investment companies. APPLICANTS: Legg Mason Partners Equity Trust (``LMP Equity Trust''), Legg Mason... ``Trusts'') and Legg Mason Partners Fund Advisor, LLC (``LMPFA'' or the ``Adviser''). FILING DATES: The...

  8. 78 FR 31429 - Proposed Amendment of Class E Airspace; Mason, TX

    Science.gov (United States)

    2013-05-24

    ...-1141; Airspace Docket No. 12-ASW-12] Proposed Amendment of Class E Airspace; Mason, TX AGENCY: Federal... proposes to amend Class E airspace at Mason, TX. Additional controlled airspace is necessary to accommodate new Standard Instrument Approach Procedures (SIAP) at Mason County Airport. The FAA is taking this...

  9. Alagille syndrome: case report with bilateral radio-ulnar synostosis and a literature review

    International Nuclear Information System (INIS)

    Ryan, R.S.; Munk, P.; Myckatyn, S.O.; Reid, G.D.

    2003-01-01

    We report a case of Alagille syndrome (arteriohepatic dysplasia) with the unusual radiological abnormality of synostosis of the proximal portions of the radius and ulna bilaterally, a manifestation which, to our knowledge, has not previously been described in a specific patient in the English language literature. We also describe additional features of the syndrome in the same patient and review the published literature on radiological manifestations of this condition. (orig.)

  10. Revista de revistas

    Directory of Open Access Journals (Sweden)

    Facultad de Medicina Revista

    1942-11-01

    Full Text Available Autores, Foster-Carter, A. F. Revista, British Journal of Tuberculosis. Tomo 36, páginas 19-38. Enero, 1942. La anatomia del arból bronquial / Autores, Robinson, M. Revista, Archives of Disease in Childhood. Tomo 17, páginas 23-29. Marzo, 1942. Una nueva investigación sobre la crianza de niños al pecho /  Autores, Medawar, P. B. Revista, Lancet. Tomo 1, páginas 350-352. Fecha 21/3/42. Coagulantes químicos en el tratamiento de las quemaduras / Autores, Wyburn-Mason, R. Revista, Lancet. Tomo 2, páginas 662-3. Fecha 29/11/41. Neuritis braquial en forma epidemica

  11. "La masonería en la literatura. Una panorámica general"

    Directory of Open Access Journals (Sweden)

    José Antonio Ferrer Benimeli

    2013-01-01

    Full Text Available ResumenEste ensayo esboza una panorámica general e internacional del binomio Literatura-masonería, estudiado porpaíses y con un cierto orden cronológico. En él se abordan aquellos literatos más conocidos que al mismotiempo fueron masones aunque no reflejen directamente su compromiso con la masonería en sus escritosliterarios. Los que sí manifiestan en sus obras el dualismo masónico-literario. Autores no masones que aluden ala masonería en sus obras y que incluso la elevan a categoría de protagonista. Y estudios críticos sobre dichosautores y sus obras.

  12. A Case of Bilateral Pigment Dispersion Syndrome Following Many Years of Uninterrupted Treatment With Atropine 1% for Bilateral Congenital Cataracts.

    Science.gov (United States)

    Gizzi, Corrado; Mohamed-Noriega, Jibran; Murdoch, Ian

    2017-10-01

    Describe an unusual case of bilateral pigment dispersion syndrome (PDS) following years of uninterrupted treatment with atropine 1% for bilateral congenital cataracts, speculate on potential mechanisms leading to this condition. This is a case report. A 45-year-old white patient on long-term treatment with atropine 1% ointment since his infancy for bilateral congenital cataracts developed PDS with secondary ocular hypertension. The patient showed all the hallmarks of PDS with secondary ocular hypertension. An anterior segment Swept-Source optical coherence tomography was obtained to review the iris profile. The patient showed good pressure response to topical prostaglandin therapy. This is the second case report of PDS in a patient with chronic use of topical atropine. The proposed mechanisms for pigment dispersion are discussed and the possibility raised of dispersion being a potential side effect of the drug.

  13. Frontal lobe syndrome from bilateral globus pallidus lesions a complication of Wernicke's encephalopathy

    OpenAIRE

    Arruda, Walter Oleschko

    1991-01-01

    A 38 year-old man developed the classical clinical picture of Wernicke's encephalopathy as a consequence of prolonged total parenteral nutrition. As a late complication he developed a frontal lobe syndrome. Bilateral globus pallidus lesions were observed in the CT-scan examination. Some aspects related to the cortical syndromes caused by subcortical lesions are discussed. Relata-se um caso de encefalopatia de Wernicke que ocorreu em paciente masculino de 38 anos, como complicação de alimen...

  14. Metachronous Bilateral Posterior Tibial Artery Aneurysms in Ehlers-Danlos Syndrome Type IV

    International Nuclear Information System (INIS)

    Hagspiel, Klaus D.; Bonatti, Hugo; Sabri, Saher; Arslan, Bulent; Harthun, Nancy L.

    2011-01-01

    Ehlers-Danlos syndrome type IV is a life-threatening genetic connective tissue disorder. We report a 24-year-old woman with EDS-IV who presented with metachronous bilateral aneurysms/pseudoaneurysms of the posterior tibial arteries 15 months apart. Both were treated successfully with transarterial coil embolization from a distal posterior tibial approach.

  15. Anesthetic management of a patient with Bartter′s syndrome undergoing bilateral sagittal split osteotomy

    Directory of Open Access Journals (Sweden)

    Nasser Nooh

    2012-01-01

    Full Text Available Bartter′s syndrome is an unusual (estimated incidence is 1.2 per million people but important congenital form of secondary hyperaldosteronism; due to abnormalities in renal handling of electrolytes. It is associated with hypertrophy and hyperplasia of the juxtaglomerular cells, normal blood pressure, and hypokalemic alkalosis withoutedema.We present a 22-year-old woman with Bartter′s syndrome underwent bilateral sagittal split osteotomy to correct mandibular prognathic. The anesthetic management of Bartter′s syndrome should be relevant to the pathophysiology of the syndrome. Therefore, it should be directed toward maintaining cardiovascular stability, control of associated fluid, electrolyte and acid-base derangements, and the prevention of renal damage.

  16. Prune belly syndrome associated with bilateral multicystic dysplastic kidneys and urethral obstruction: A case report

    Directory of Open Access Journals (Sweden)

    Arzu Akdag

    2015-06-01

    Full Text Available Prune belly syndrome is a rare congenital disorder defined by a characteristic clinical triad: Abdominal muscle deficiency, severe urinary tract abnormalities, and bilateral cryptorchidism. We describe a preterm neonate of Prune Belly syndrome who had abdominal muscle deficiency, multicystic dysplastic kidney, urethral hypoplasia and pulmonary hypoplasia. We presented this rare case with the data gathered from the literatüre.

  17. Masonic Song in Scotland: Folk Tunes and Community

    Directory of Open Access Journals (Sweden)

    Katherine Campbell

    2012-03-01

    Full Text Available This article explores the place of Masonic songs historically in Scotland, assessing the oral culture surrounding the genre. The article further shows that folk tunes were commonly used and investigates aspects of the group performance that was central to the Lodges. Finally, the study concludes with an examination of a Masonic procession in Northeast Scotland that survives to the present day, focusing especially on the role of music and song within it.

  18. Development of bilateral coronary artery aneurysms in a child with Noonan syndrome

    International Nuclear Information System (INIS)

    Mauro, David M.; Flors, Lucia; Norton, Patrick T.; Hagspiel, Klaus D.; Hoyer, Andrew W.

    2016-01-01

    Noonan syndrome is a constellation of congenital malformations including heart defects, facial anomalies and short stature. The cardiovascular defects are variable and extensive, with the most common being pulmonary stenosis and hypertrophic cardiomyopathy. Coronary artery anomalies have only been reported in a few cases. We report a child with Noonan syndrome status post pulmonary stenosis and atrial septal defect repair, who developed bilateral coronary artery aneurysms. The aneurysms were diagnosed with both cardiac magnetic resonance imaging and coronary computed tomography angiography. There had been no evidence of them on a cardiac MR exam 5 years previously. (orig.)

  19. Development of bilateral coronary artery aneurysms in a child with Noonan syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Mauro, David M.; Flors, Lucia; Norton, Patrick T.; Hagspiel, Klaus D. [University of Virginia Health System, Department of Radiology and Medical Imaging, Charlottesville, VA (United States); Hoyer, Andrew W. [University of Virginia Health System, Department of Pediatrics, Division of Pediatric Cardiology, Charlottesville, VA (United States); Pediatric Cardiology Center of Oregon, Portland, OR (United States)

    2016-03-15

    Noonan syndrome is a constellation of congenital malformations including heart defects, facial anomalies and short stature. The cardiovascular defects are variable and extensive, with the most common being pulmonary stenosis and hypertrophic cardiomyopathy. Coronary artery anomalies have only been reported in a few cases. We report a child with Noonan syndrome status post pulmonary stenosis and atrial septal defect repair, who developed bilateral coronary artery aneurysms. The aneurysms were diagnosed with both cardiac magnetic resonance imaging and coronary computed tomography angiography. There had been no evidence of them on a cardiac MR exam 5 years previously. (orig.)

  20. 76 FR 59153 - Elizabeth Hartwell Mason Neck National Wildlife Refuge, Fairfax County, VA, and Featherstone...

    Science.gov (United States)

    2011-09-23

    ...] Elizabeth Hartwell Mason Neck National Wildlife Refuge, Fairfax County, VA, and Featherstone National... plan (CCP) and finding of no significant impact (FONSI) for Elizabeth Hartwell Mason Neck (Mason Neck...: Download a copy of the document at http://www.fws.gov/northeast/planning/MasonNeck_Featherstone/ccphome...

  1. Concurrence of Stevens-Johnson Syndrome and Bilateral Parotitis after Minocycline Therapy

    Directory of Open Access Journals (Sweden)

    Jimi Yoon

    2010-06-01

    Full Text Available Minocycline is an antibiotic of tetracycline derivatives that is commonly used in the treatment of moderate to severe acne vulgaris. It has been reported to cause rare adverse events from mild cutaneous eruption to severe forms including drug-induced lupus, serum sickness-like reaction, and hypersensitivity reactions, etc. The risks of adverse events attributed to minocycline have not been ascertained reliably and there are concerns about the safety of minocycline which could possibly result in life-threatening events such as the Stevens-Johnson syndrome. Here we demonstrate an unusual case of Stevens-Johnson syndrome in conjunction with bilateral parotitis after the intake of minocycline in a Korean boy suggesting discreet use of the drug.

  2. Periventricular nodular heterotopia and bilateral intraventricular xanthogranulomas in 22q11.2 deletion syndrome

    Directory of Open Access Journals (Sweden)

    Moogeh Baharnoori

    2017-09-01

    Full Text Available 22q11.2 deletion syndrome (22q11DS is the most common pathogenic copy number variant in humans. Neuropsychiatric phenotypes, including schizophrenia, are prominent. Imaging studies of individuals with this syndrome show a variety of abnormalities that may indicate abnormal neuronal migration. Here we present the neuroimaging and neuropathologic features of a 22q11DS patient with bilateral periventricular nodular heterotopias (PNH and intraventricular xanthogranulomas that were identified by post-mortem examination.

  3. Acquired Ulcero-Mutilating Bilateral Acro-Osteopathy (Bureau-Barrière Syndrome

    Directory of Open Access Journals (Sweden)

    Georgi Tchernev

    2017-07-01

    Full Text Available We present a 35-year-old male patient with Bureau-Barrière syndrome. Bureau-Barrière syndrome is an ulcero-mutilating acropathy almost invariably associated with excessive alcohol intake. It presents with a triad of trophic skin changes with recurrent ulcerations, bone lesions and nerve damage. The clinical presentation includes chronic painless plantar ulcerations with periulcerous hyperkeratosis, hyperhidrosis, livedoid skin colour, nail dystrophy, widening and infiltration of the toes and common interdigital mycoses. Other non-specific skin changes related to the alcohol consumption are commonly observed as well. The condition affects mainly middle-aged men suffering from alcoholism. Often a bilateral location at the lower limb of male alcoholics has been described, as in our patient. Successful treatment of the Bureau-Barrière syndrome requires an interdisciplinary approach. Cessation of alcohol intake and smoking is of paramount importance.

  4. Bilateral corneal perforations and autoproptosis as self-induced manifestations of ocular Munchausen's syndrome.

    Science.gov (United States)

    Lin, Joseph L; Servat, J Javier; Bernardino, Carlo R; Goldberg, Robert A; Levin, Flora

    2012-08-01

    To report a patient with bilateral corneal perforations and autoproptosis in a case of ocular Munchausen's syndrome. Case report. A 26-year-old white male referred to the oculoplastics service with one month history of decreased vision bilaterally and painful right eye. Multiple eyelid scars and right corneal opacity were noted. The patient was previously seen at another institution for rapid loss of vision in both eyes. An orbit decompression among many procedures failed to controlled extreme pain and proptosis. Resolution of proptosis, stabilization of vision, pain resolution. Three weeks after enucleation of the right eye was offered, patient presented with spontaneous left ruptured globe. After multiple episodes of self-mutilation and infections, both eyes were exenterated. Munchausen syndrome can be seen with ophthalmic manifestations and should be considered in the differential diagnosis when ocular abnormalities cannot be explained after a thorough evaluation. Recognition of this psychiatric disease is not only important for correct medical diagnosis and treatment, but also essential in protecting the patients from unnecessary invasive and aggressive medical procedures.

  5. A delayed presentation of bilateral leg compartment syndrome following non-stop dancing.

    Science.gov (United States)

    Jefferies, James Gordon; Carter, Tom; White, Tim Oliver

    2015-03-18

    We present the case of a young man with a 48 h delayed presentation of bilateral lower limb acute compartment syndrome (ACS) affecting the anterior compartments following an extended period of dancing at a music festival. On making the diagnosis of ACS, the patient was immediately taken to theatre for fasciotomies and compartmental decompression. Repeat look fasciotomies revealed further necrosis to the muscles of the anterior compartments bilaterally and, effectively, all the muscle bellies within the anterior compartments were excised. The patient has been left with a significant functional deficit and disability. This case highlights the importance of timely diagnosis of ACS as delay in presentation can impact significantly on subsequent functional outcome and quality of life. 2015 BMJ Publishing Group Ltd.

  6. Laparoscopic Bilateral Adrenalectomy in a patient of Cushing syndrome: A Challenge for the Anaesthesiologist

    Directory of Open Access Journals (Sweden)

    Uma K Dahanukar

    2007-01-01

    Full Text Available We present a case of Cushing syndrome who underwent laparoscopic bilateral adrenalectomy and discuss her intraoperative management and postoperative course in ICU, especially pulmonary oedema, that occurred within 3 hours after resection (half life of cortisol is 80-110 minutes. [1] She was diagnosed to have bilateral adrenal hyperplasia with no pituitary involvement on CT scan. Preoperative workup revealed hypokalemia, anaemia, hypertension and hyperglycemia. She was posted for laparoscopic bilateral adrenalectomy. She received general anaesthesia; we did not give epidural analgesia as the patient had fracture of body of L1 vertebrae. Her intra-operative course was uneventful. Post-operative concerns included acute adrenal insufficiency, hypoglycaemia, hypotension and hyperkalemia, which were successfully managed in ICU. Patient was then given oral corticosteroids. One month later she was reassessed and was in better health.

  7. Bilateral axillary artery aneurysms after Bentall procedure in Marfan syndrome.

    Science.gov (United States)

    Haruki, Takashi; Ito, Hiroshi; Sakata, Kensuke; Kobayashi, Yurio

    2015-11-01

    A man with Marfan syndrome underwent a Bentall procedure for annuloaortic ectasia and severe aortic regurgitation at 43 years of age. Twenty-eight years after the Bentall procedure, he developed bilateral axillary artery aneurysms (length × diameter: right: 80 × 39 mm; left: 103 × 45 mm). Aneurysmectomy and reconstruction of the axillary artery were performed using an artificial vascular graft. Histological examination revealed cystic medial necrosis. The postoperative course was uneventful, but long-term follow-up is necessary. © The Author(s) 2014.

  8. Early vitrectomy effective for bilateral combined anterior and posterior persistent fetal vasculature syndrome.

    Science.gov (United States)

    Walsh, Mark K; Drenser, Kimberly A; Capone, Antonio; Trese, Michael T

    2010-04-01

    The purpose of this study was to review our surgical experience with patients with bilateral combined anterior and posterior persistent fetal vasculature syndrome (PFVS). We retrospectively reviewed the charts of all patients seen in our tertiary care pediatric retinal practice from 1988 to 2008 with a potential diagnosis of bilateral PFVS with posterior involvement. Clinical diagnosis required the presence of either bilateral persistent hyaloidal stalk tissue with retinal involvement or bilateral dense retrolental fibrovascular plaques (usually with no posterior view preoperatively) without a family history or genetic testing consistent with Norrie disease or familial exudative vitreoretinopathy. Chart review showed 22 vitrectomized patients with clinical findings consistent with bilateral PFVS with posterior involvement who did not have a family history or genetic testing consistent with Norrie disease or familial exudative vitreoretinopathy. All 22 of these patients with posterior retinal involvement also had anterior findings and thus can be classified as combined anterior and posterior PFVS. Of the 13 patients with visual acuity follow-up data, 9 patients (69%) maintained at least light perception vision in at least 1 eye at last follow-up. Of the 28 operated eyes in 16 patients with follow-up data, 3 eyes (11%) were phthisical at last follow-up. Children with bilateral PFVS with posterior retinal involvement have a dismal visual prognosis if left unoperated. In this relatively large series of a rare condition, we find that vitrectomy with or without lensectomy is beneficial in bilateral combined anterior and posterior PFVS in two regards: maintenance or restoration of vision and avoidance of phthisis bulbi.

  9. Bilateral anterior tarsal tunnel syndrome variant secondary to extensor hallucis brevis muscle hypertrophy in a ballet dancer: a case report.

    Science.gov (United States)

    Tennant, Joshua N; Rungprai, Chamnanni; Phisitkul, Phinit

    2014-12-01

    We present a case of bilateral anterior tarsal tunnel syndrome secondary EHB hypertrophy in a dancer, with successful treatment with bilateral EHB muscle excisions for decompression. The bilateral presentation of this case with the treatment of EHB muscle excision is the first of its type reported in the literature. Copyright © 2014 European Foot and Ankle Society. Published by Elsevier Ltd. All rights reserved.

  10. Hearing rehabilitation with single-stage bilateral vibroplasty in a child with Franceschetti syndrome.

    Science.gov (United States)

    Sargsyan, Sona; Rahne, Torsten; Kösling, Sabrina; Eichler, Gerburg; Plontke, Stefan K

    2014-05-01

    Hearing is of utmost importance for normal speech and social development. Even children who have mild or unilateral permanent hearing loss may experience difficulties with understanding speech, as well as problems with educational and psycho-social development. The increasing advantages of middle-ear implant technologies are opening new perspectives for restoring hearing. Active middle-ear implants can be used in children and adolescents with hearing loss. In addition to the well-documented results for improving speech intelligibility and quality of hearing in sensorineural hearing loss active middle-ear implants are now successfully used in patients with conductive and mixed hearing loss. In this article we present a case of successful, single-stage vibroplasty, on the right side with the fixation of the FMT on the stapes and PORP CLiP vibroplasty on the left side in a 6-year-old girl with bilateral mixed hearing loss and multiple dyslalia associated with Franceschetti syndrome (mandibulofacial dysostosis). CT revealed bilateral middle-ear malformations as well as an atretic right and stenotic left external auditory canal. Due to craniofacial dysmorphia airway and (post)operative, management is significantly more difficult in patients with a Franceschetti syndrome which in this case favoured a single-stage bilateral procedure. No intra- or postoperative surgical complications were reported. The middle-ear implants were activated 4 weeks after surgery. In the audiological examination 6 months after surgery, the child showed 100% speech intelligibility with activated implants on each side.

  11. Wall-eyed bilateral internuclear ophthalmoplegia (webino syndrome and myelopathy in pyoderma gangrenosum

    Directory of Open Access Journals (Sweden)

    Marco Aurélio Lana

    1990-12-01

    Full Text Available A 35-year-old female with pyoderma gangrenosum developed paraparesis with a sensory level at L1. Three months later she complained of diplopia and was found to have bilateral internuclear ophthalmoplegia with exotropia and no ocular convergence. The term Webino syndrome has been coined to design this set of neuro-opthalmologic findings. Although it was initially attributed to lesions affecting the medial longitudinal fasciculus and the medial rectus subnuclei of the oculomotor complex in the midbrain the exact location of the lesion is still disputed. In the present case both myelopathy and Webino syndrome were probably due to vascular occlusive disease resulting from central nervous system vasculitis occurring in concomitance to pyoderma gangrenosum.

  12. Cerebellar Ataxia with Bilateral Vestibulopathy: Description of a Syndrome and Its Characteristic Clinical Sign

    Science.gov (United States)

    Migliaccio, Americo A.; Halmagyi, G. Michael; McGarvie, Leigh A.; Cremer, Phillip D.

    2004-01-01

    We report four patients with the syndrome of cerebellar ataxia with bilateral vestibulopathy (CABV) and, using search coil oculography, we validate its characteristic clinical sign, namely impairment of the visually enhanced vestibulo-ocular reflex (VVOR) or doll's head reflex. In our four patients, CABV began in the sixth decade of life; they are…

  13. Bilateral familial vertical Duane Syndrome with synergistic convergence, aberrant trigeminal innervation, and facial hypoplasia

    Directory of Open Access Journals (Sweden)

    Malvika Gupta

    2014-01-01

    Full Text Available A 5-year-old girl presented with bilateral familial vertical  Duane retraction syndrome with alternating esotropia, elevation deficit, Marcus gunn phenomenon, and facial hypoplasia. Abnormal adducting downshoots on attempting abduction suggestive of a synergistic convergence were noted. Hypothesis suggests aberrant innervations or peripheral anatomic connections between inferior and medial recti.

  14. Bilateral Ovarian Fibrothecoma Associated with Ascites, Bilateral Pleural Effusion, and Marked Elevated Serum CA-125

    Directory of Open Access Journals (Sweden)

    Védi André Serges Loué

    2013-01-01

    Full Text Available Background. The risk of ovarian cancer is increased in the association of ovarian tumor, ascites, and hydrothorax with the significant elevated tumor marker CA-125. However, this association can be observed in a rare clinical and benign pathological entity, that is Demons-Meigs’ syndrome. Objective. To describe a rare case of Demons-Meigs' syndrome observed in our department. Methods. A black African woman of 35 years old, seventh gravida and fourth parous, underwent a total abdominal hysterectomy with bilateral salpingoophorectomy for large bilateral ovarian masses associated with significant ascites, bilateral pleural effusion, and particular highly elevated tumor marker CA-125 (1835 UI/mL in a pronounced general alteration condition. Results. The postoperative course was uneventful characterized by a complete remission of hydrothorax and ascites with normal level of CA-125 three months after tumor excision. Histology of both masses revealed a bilateral ovarian fibrothecoma, a benign tumor of the ovary, thus confirming the diagnosis of Demons-Meigs’ syndrome. Conclusion. The Demons-Meigs syndrome, although it strongly mimics the clinical picture of malignant metastatic ovarian cancer, remains a disease with benign prognosis after surgical tumor resection. This is a rare condition that must be known and recognized by practitioners to avoid unnecessary practices.

  15. Professor Howard Mason and oxygen activation

    International Nuclear Information System (INIS)

    Waterman, Michael R.

    2005-01-01

    Our understanding of the classification, function, mechanism, and structure of the enzymes which incorporate atoms of oxygen from atmospheric molecular oxygen during catalysis is based on the thoughtful and technically challenging experiments of two giants in the field of Biochemistry, Howard Mason and Osamu Hayaishi. This volume celebrates the 50th anniversary of the discovery and characterization of these 'oxygenase' enzymes and provides a broad view of how far this area of research has advanced. Professor Hayaishi describes herein his perspective on the background and major discoveries which led to the development of this field. Regrettably Howard Mason passed away at age 88 in 2003. I am indeed fortunate to have been a Ph.D. student with Howard and to have the opportunity to briefly review his role in the development of this field for this special commemorative issue of BBRC

  16. 76 FR 582 - Elizabeth Hartwell Mason Neck National Wildlife Refuge, Fairfax County, VA, and Featherstone...

    Science.gov (United States)

    2011-01-05

    ...] Elizabeth Hartwell Mason Neck National Wildlife Refuge, Fairfax County, VA, and Featherstone National... comprehensive conservation plan and the environmental assessment (CCP/EA) for Elizabeth Hartwell Mason Neck (Mason Neck) National Wildlife Refuge (NWR) and Featherstone NWR for a 45-day public review and comment...

  17. The Environmental Ethic of Bill Mason: A Model for Environmental Education

    Science.gov (United States)

    Heintzman, Paul

    2007-01-01

    Almost 20 years after Bill Mason's death, the writings and films of this legendary Canadian canoeist, filmmaker, and artist remain popular: "Few people of any nation have been so influential in creating a sense of responsibility for the environment" (Buck, 2005, p. 12). Supported by statements in Mason's writings and films, this paper…

  18. Integrase of Mason-Pfizer monkey virus

    Czech Academy of Sciences Publication Activity Database

    Snášel, Jan; Krejčík, Zdeněk; Jenčová, Věra; Rosenberg, Ivan; Ruml, Tomáš; Alexandratos, J.; Gustchina, A.; Pichová, Iva

    2005-01-01

    Roč. 272, č. 1 (2005), s. 203-216 ISSN 1742-464X R&D Projects: GA AV ČR(CZ) IAA4055304 Institutional research plan: CEZ:AV0Z4055905 Keywords : integrase * Mason-Pfizer monkey virus * HIV-1 Subject RIV: CE - Biochemistry

  19. 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

  20. 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.

  1. Bilateral Asymmetric Rhegmatogenous Retinal Detachment in a Patient with Stickler Syndrome

    Directory of Open Access Journals (Sweden)

    Caner Öztürk

    2018-04-01

    Full Text Available Here we present the long-term anatomical and visual outcomes of bilateral asymmetric rhegmatogenous retinal detachment repair in a patient with Stickler syndrome. A 17-year-old girl presented with decreased visual acuity in both eyes for more than one year. Her best-corrected visual acuity (BCVA was 0.1 in the right eye and 0.05 in the left eye. Slit-lamp anterior segment examination revealed subcapsular cataract in both eyes. Fundus examination showed bilateral rhegmatogenous retinal detachment, chronic retinal detachment accompanied by multiple retinal holes, tears and membranous fibrillary vitreous in the peripheral retina. Grade C2 proliferative vitreoretinopathy was observed in the left eye. Scleral buckling surgery was performed initially for both eyes. After the primary surgical procedure, retinal reattachment was achieved in the right eye and the left eye underwent phacoemulsification, intraocular lens implantation, pars plana vitrectomy (PPV, and silicone oil injection. After these surgical procedures retinal reattachment was achieved in the left eye. Silicone oil removal was performed six months after PPV surgery. After surgical treatment, BCVA was 0.6 in the right eye at the end of the 3.5-year follow-up period. After silicone oil removal, BCVA reached 0.2 in the left eye after 36 months of follow-up and retinal reattachment was achieved in both eyes. Scleral buckling surgery and PPV are effective and confidential methods for the treatment of chronic retinal detachment cases in Stickler syndrome.

  2. Patient with pontine warning syndrome and bilateral posterior internuclear ophthalmoplegia: case report

    Directory of Open Access Journals (Sweden)

    Su Li

    2010-06-01

    Full Text Available Abstract Background Capsular warning syndrome was first described in 1993, featured with repetitive episodes of motor and/or sensory dysfunction without cortical signs. Recently, it has been demonstrated that clinically typical capsular warning syndrome can be associated with pontine infarct and the term “pontine warning syndrome� was coined. Case Presentation A 54-year-old woman with a history of hypertension was seen with profound left-sided hemiplegia. She had had 3 episodes of left-sided weakness before complete hemiplegia. Her speech was slurred. Left central facial palsy and hemiglossoplegia were presented. Her left plantar response was extensor and bilateral posterior internuclear ophthalmoplegia was seen on neurologic examination. Biochemical tests revealed hyperglycemia and dyslipidemia on the next day. MRI demonstrated an acute right paramedian pontine infarct. The patient was commenced on oral clopidogrel, atorvastatin and acarbose. After 23 days of hospitalization, she was discharged with severe left hemiplegia. Conclusions 1 Pontine warning syndrome may be underestimated and understudied. 2 Posterior internuclear ophthalmoplegia is a rare clinical sign in cerebrovascular diseases, while it can help to locate a brainstem lesion rather than an internal capsular one. 3 Blood pressure lowing administration may be improper for patients with pontine warning syndrome.

  3. Fort Mason Center: Pier 2 Project

    Energy Technology Data Exchange (ETDEWEB)

    Nester, Patrick [Fort Mason Center, San Francisco, CA (United States)

    2014-08-30

    The rooftop Photovoltaic (PV) panels and radiant piping project was constructed by Fort Mason Center as part of its $21 million comprehensive rehabilitation of the Pier 2 shed which include the shed’s electrical, natural gas and water systems. Fort Mason Center improved performance while reducing energy and water usage and costs to demonstrate the efficiencies and opportunities available to large multi-function facilities. The scalable demand of these facilities required a layered approach to conservation, control and production. The project employed a comprehensive retrofit of electrical natural gas, and plumbing systems to maximize efficiency and lower carbon footprint specifically to demonstrate the effectiveness of these strategies in a public setting with varied and diverse use. The project was completed in July 2014 and met the expected outcomes regarding increased comfort and operational efficiency throughout the Pier 2 shed as well as on site electrical generation of current consumption. The entire Pier 2 shed project won a 2015 California Preservation Foundation design award for historic rehabilitation.

  4. Dynamics of simple magnetorheological suspensions under rotating magnetic fields with modulated Mason number

    International Nuclear Information System (INIS)

    Calderon, Oscar G; Melle, Sonia

    2002-01-01

    We study theoretically the dynamics of a system of two magnetizable particles suspended in a non-magnetic fluid subject to a rotating magnetic field when a modulation on the Mason number (ratio of viscous to magnetic forces) is applied. We find, using a periodic modulation, that a resonant-like phenomenon between the periodic modulation of the Mason number and the intrinsic radial oscillation of the system without modulation occurs. For a random perturbation of the Mason number, we obtain an optimum noise strength at which the average interparticle distance reaches the lowest value. When a weak periodic modulation and a noise source are included in the Mason number, stochastic resonance (SR) is found for different frequencies and amplitudes of the modulation. An interpretation of this SR phenomenon is made by means of a threshold crossing mechanism

  5. Coexistence of bilateral first and second branchial arch anomalies

    Science.gov (United States)

    Thakur, J S; Shekar, Vidya; Saluja, Manika; Mohindroo, N K

    2013-01-01

    Branchial arch anomalies are one of the most common congenital anomalies that are usually unilateral and bilateral presentation is rare. The simultaneous presence of bilateral second branchial arch anomalies along with bilateral first arch anomalies is extremely rare, with only three such cases reported in the literature. We present two non-syndromic cases of coexisting bilateral first and second arch anomalies. Developmental anomalies of the branchial apparatus account for 17% of all paediatric cervical masses and are the most common type of congenital cervical mass. They usually present in the paediatric age group. About 96–97% of these anomalies are unilateral. Bilateral presentation is seen in 2–3% having a strong familial association. Congenital syndromes also have been associated with first and second branchial arch anomalies. Thorough clinical examination and investigations should be done to rule out these syndromes. PMID:23580675

  6. A critical reappraisal of bilateral adrenalectomy for ACTH-dependent Cushing's syndrome.

    Science.gov (United States)

    Reincke, Martin; Ritzel, Katrin; Oßwald, Andrea; Berr, Christina; Stalla, Günter; Hallfeldt, Klaus; Reisch, Nicole; Schopohl, Jochen; Beuschlein, Felix

    2015-10-01

    Our aim was to review short- and long-term outcomes of patients treated with bilateral adrenalectomy (BADx) in ACTH-dependent Cushing's syndrome. We reviewed the literature and analysed our experience with 53 patients treated with BADx since 1990 in our institution. BADx is considered if ACTH-dependent Cushing's syndrome is refractory to other treatment modalities. In Cushing's disease (CD), BADx is mainly used as an ultima ratio after transsphenoidal surgery and medical therapies have failed. In these cases, the time span between the first diagnosis of CD and treatment with BADx is relatively long (median 44 months). In ectopic Cushing's syndrome, the time from diagnosis to BADx is shorter (median 2 months), and BADx is often performed as an emergency procedure because of life-threatening complications of severe hypercortisolism. In both situations, BADx is relatively safe (median surgical morbidity 15%; median surgical mortality 3%) and provides excellent control of hypercortisolism; Cushing's-associated signs and symptoms are rapidly corrected, and co-morbidities are stabilised. In CD, the quality of life following BADx is rapidly improving, and long-term mortality is low. Specific long-term complications include the development of adrenal crisis and Nelson's syndrome. In ectopic Cushing's syndrome, long-term mortality is high but is mostly dependent on the prognosis of the underlying malignant neuroendocrine tumour. BADx is a relatively safe and highly effective treatment, and it provides adequate control of long-term co-morbidities associated with hypercortisolism. © 2015 European Society of Endocrinology.

  7. 76 FR 49764 - Steve Mason Enterprises, Inc., Green Energy Trans, LLC; Notice of Transfer of Exemption

    Science.gov (United States)

    2011-08-11

    ... DEPARTMENT OF ENERGY Federal Energy Regulatory Commission [Project No. 7742-007] Steve Mason... the Commission's regulations,\\1\\ Steve Mason Enterprises, Inc., exemptee for the Long Shoals Project... 26, 2011 from Steve Mason Enterprises, Inc. \\4\\ E.g., John C. Jones, 99 FERC ] 61,372, at 62,580 n.2...

  8. Reconstruction of bilateral tibial aplasia and split hand-foot syndrome in a father and daughter.

    Science.gov (United States)

    Al Kaissi, Ali; Ganger, Rudolf; Klaushofer, Klaus; Grill, Franz

    2014-01-01

    Tibial aplasia is of heterogeneous aetiology, the majority of reports are sporadic. We describe the reconstruction procedures in two subjects - a daughter and father manifested autosomal dominant (AD) inheritance of the bilateral tibial aplasia and split hand-foot syndrome. Reconstruction of these patients required multiple surgical procedures and orthoprosthesis was mandatory. The main goal of treatment was to achieve walking. Stabilization of the ankle joint by fibular-talar-chondrodesis on both sides, followed by bilateral Brown-procedure at the knee joint level has been applied accordingly. The outcome was with improved function of the deformed limbs and walking was achieved with simultaneous designation of orthotic fitting. This is the first study encompassing the diagnosis and management of a father and daughter with bilateral tibial aplasia associated with variable split hand/foot deformity without foot ablation. Our patients showed the typical AD pattern of inheritance of split-hand/foot and tibial aplasia.

  9. Evaluation of Outcome of Models at Fort Bliss, Texas

    Science.gov (United States)

    1992-12-01

    15 Sex: M Age: 36 DOB: 5-13-55 Date of Injury: 8-2-91 Formal report received: 6-9-91 Injury: Shoulder strain, rotator cuff tear, and biceps tendon...right rotator cuff . COP: 2 days RTW: Returned to transitional work for two weeks, then to full duty. Job: mason Troop Clinic/WBAMC: All treatment was...flexor tendons of the right wrist; bilateral carpal tunnel syndrome; bilateral tendinitis . COP: 13 days RTW: Return to partial duty after COP. Reassigned

  10. Bilateral branch pulmonary artery stenosis and Mitral valve prolapse in a patient with Noonan syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Meenakshi Kadiyala

    2014-01-01

    Full Text Available Rasopathy syndromes are a class of phenotypically similar, but genetically distinct multiple anomaly syndromes caused by germ line mutations in genes that encode protein components of the Ras/mitogen activated protein kinase (MAPK pathway. Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome are part of this group of developmental syndromes and have similar cardiac abnormalities. A 19-year-old male presented with complaints of exertional breathlessness class I for 6 months. Clinical examination revealed characteristic facial features, skeletal abnormalities, growth and neurocognitive problems reported in patients with Noonan syndrome. There was evidence of severe pulmonary hypertension. Trans-thoracic echocardiography revealed right atrial and right ventricular enlargement, severe pulmonary hypertension, no intra cardiac shunt, prolapse of anterior mitral leaflet with mild mitral regurgitation. CT pulmonary angiogram revealed bilateral branch pulmonary artery stenosis. A final diagnosis of Noonan syndrome was made.

  11. Reconstruction of bilateral tibial aplasia and split hand-foot syndrome in a father and daughter

    Directory of Open Access Journals (Sweden)

    Ali Al Kaissi

    2014-01-01

    Full Text Available Background: Tibial aplasia is of heterogeneous aetiology, the majority of reports are sporadic. We describe the reconstruction procedures in two subjects - a daughter and father manifested autosomal dominant (AD inheritance of the bilateral tibial aplasia and split hand-foot syndrome. Materials and Methods: Reconstruction of these patients required multiple surgical procedures and orthoprosthesis was mandatory. The main goal of treatment was to achieve walking. Stabilization of the ankle joint by fibular-talar-chondrodesis on both sides, followed by bilateral Brown-procedure at the knee joint level has been applied accordingly. Results: The outcome was with improved function of the deformed limbs and walking was achieved with simultaneous designation of orthotic fitting. Conclusion: This is the first study encompassing the diagnosis and management of a father and daughter with bilateral tibial aplasia associated with variable split hand/foot deformity without foot ablation. Our patients showed the typical AD pattern of inheritance of split-hand/foot and tibial aplasia.

  12. Bilateral vocal cord paralysis and hypothyroidism as presenting symptoms of Williams-Beuren syndrome: a case report.

    Science.gov (United States)

    Koren, Ilana; Kessel, Ira; Rotschild, Avi; Cohen-Kerem, Raanan

    2015-09-01

    Williams-Beuren syndrome is a rare neurodevelopmental disorder caused by deletion of 1.5-1.8Mb genes on chromosome 7q11.23. The syndrome was first described as a triad of supra-valvular aortic stenosis, mental retardation, and distinctive facial features. Our patient was referred due to audible inspiratory stridor when he was seven days old. Following endoscopy he was diagnosed with bilateral vocal cord paralysis and was eventually intubated due to respiratory de-compensation followed by tracheotomy. On further workup he was diagnosed with hypothyroidism. Genetic workup supported the diagnosis of Williams-Beuren syndrome. We report here a case with an unusual clinical presentation. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  13. Red mason bees cannot compete with honey bees for floral resources in a cage experiment.

    Science.gov (United States)

    Hudewenz, Anika; Klein, Alexandra-Maria

    2015-11-01

    Intensive beekeeping to mitigate crop pollination deficits and habitat loss may cause interspecific competition between bees. Studies show negative correlations between flower visitation of honey bees (Apis mellifera) and wild bees, but effects on the reproduction of wild bees were not proven. Likely reasons are that honey bees can hardly be excluded from controls and wild bee nests are generally difficult to detect in field experiments. The goal of this study was to investigate whether red mason bees (Osmia bicornis) compete with honey bees in cages in order to compare the reproduction of red mason bees under different honey bee densities. Three treatments were applied, each replicated in four cages of 18 m³ with 38 red mason bees in all treatments and 0, 100, and 300 honey bees per treatment with 10-20% being foragers. Within the cages, the flower visitation and interspecific displacements from flowers were observed. Niche breadths and resource overlaps of both bee species were calculated, and the reproduction of red mason bees was measured. Red mason bees visited fewer flowers when honey bees were present. Niche breadth of red mason bees decreased with increasing honey bee density while resource overlaps remained constant. The reproduction of red mason bees decreased in cages with honey bees. In conclusion, our experimental results show that in small and isolated flower patches, wild bees can temporarily suffer from competition with honey bees. Further research should aim to test for competition on small and isolated flower patches in real landscapes.

  14. Parsonage-Turner syndrome in a patient with bilateral shoulder pain: A case report.

    Science.gov (United States)

    Ohta, Ryuichi; Shimabukuro, Akira

    2017-11-01

    Objective: Parsonage-Turner syndrome is a peripheral neuropathy characterized by acute onset shoulder pain, myalgia, and sensory disturbances. The present report discusses a rare case of Parsonage-Turner syndrome and highlights the importance of accurate history recording and thorough physical examination for the diagnosis of the disease in rural areas. Patient: A 28-year-old woman presented to our clinic with acute bilateral shoulder pain and difficulty moving her right arm. A diagnosis of Parsonage-Turner syndrome was suspected based on the progression of symptoms, severity of pain, and lack of musculoskeletal inflammation. The diagnosis was confirmed by neurological specialists, and the patient was treated with methylprednisolone, after which her symptoms gradually improved. Discussion: The differential diagnosis of shoulder pain is complicated due to the wide variety of conditions sharing similar symptoms. Accurate history recording and thorough physical examination are required to differentiate among conditions involving the central nerves, peripheral nerves, and nerve plexuses. Conclusion: Although the symptoms of Parsonage-Turner syndrome vary based on disease progression and the location of impairment, proper diagnosis of acute shoulder pain without central neurological symptoms can be achieved in rural areas via thorough examination.

  15. 77 FR 9960 - Final Environmental Impact Statement for Extension of F-Line Streetcar Service to Fort Mason...

    Science.gov (United States)

    2012-02-21

    ... Environmental Impact Statement for Extension of F-Line Streetcar Service to Fort Mason Center, San Francisco, CA... Environmental Impact Statement for the Extension of F-Line Streetcar Service to Fort Mason Center, San Francisco... the extension of the historic streetcar F-line from Fisherman's Wharf to the Fort Mason Center, in San...

  16. Bilateral Internal Carotid Artery Occlusion Associated with the Antiphospholipid Antibody Syndrome

    Directory of Open Access Journals (Sweden)

    Pria Anand

    2014-03-01

    Full Text Available A 39-year-old woman presented with a right-hemispheric stroke 1 year after she had suffered a left-hemispheric stroke. Her diagnostic workup was notable for bilateral occlusions of the internal carotid arteries at their origins and a positive lupus anticoagulant antibody test. There was no evidence of carotid dissection or another identifiable cause for her carotid occlusions. These findings suggest that the antiphospholipid antibody syndrome may be implicated in the pathological changes that resulted in occlusions of the extracranial internal carotid arteries. Young stroke patients who present with unexplained internal carotid artery occlusions may benefit from testing for the presence of antiphospholipid antibodies.

  17. Bilateral meandering pulmonary veins

    Energy Technology Data Exchange (ETDEWEB)

    Thupili, Chakradhar R.; Udayasankar, Unni [Pediatric Imaging, Imaging Institute Cleveland Clinic, Cleveland, OH (United States); Renapurkar, Rahul [Imaging Institute Cleveland Clinic, Thoracic Imaging, L10, Cleveland, OH (United States)

    2015-06-15

    Meandering pulmonary veins is a rare clinical entity that can be mistaken for more complex congenital syndromes such as hypogenetic lung syndrome. We report imaging findings in a rare incidentally detected case of bilateral meandering pulmonary veins. We briefly discuss the role of imaging in diagnosing this condition, with particular emphasis on contrast-enhanced CT. (orig.)

  18. [Bilateral chronic dislocation of the temporomandibular joints and Meige syndrome].

    Science.gov (United States)

    Arzul, L; Henoux, M; Marion, F; Corre, P

    2015-04-01

    Chronic dislocation of the temporo-mandibular joint (TMJ) is rare. It occurs when an acute dislocation is left untreated, in certain situations, including severe illness, neurologic or psychiatric diseases or prolonged oral intubation. A 79 years old woman, with Meige syndrome, suffered from bilateral dislocation of the TMJ for over 1 year. Surgical repositioning of the mandibular condyles and temporal bone eminectomy were performed. At the 18 postoperative months control, no recurrence has been noted. Treatment of chronic TMJ dislocations often requires a surgical procedure. Manual reduction, even under general anaesthesia, often fails because of severe muscular spasm and periarticular fibrotic changes. The management of this disorder is still controversial. We review available surgical procedures. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  19. Laparoscopic Partial Adrenalectomy for Bilateral Cortisol-secreting Adenomas

    Directory of Open Access Journals (Sweden)

    Jeffrey P. Domino

    2007-04-01

    Full Text Available Bilateral cortisol-secreting adenomas are a rare cause of Cushing's syndrome. We report a case of a 35-year-old woman who presented with ACTH-independent Cushing's syndrome and bilateral adrenal adenomas. Adrenal venous sampling confirmed both adenomas to be hyper-secreting cortisol. She underwent bilateral laparoscopic adrenalectomy; total right and partial left adrenalectomies. At 2-year follow-up, she is maintained on low-dose fludrocortisone and hydrocortisone, and without recurrence of hypercorticolism. Laparoscopic partial adrenalectomy is a feasible option for this rare condition; however, long-term follow-up is needed to determine her total independence from steroid usage.

  20. Remission of severe restless legs syndrome and periodic limb movements in sleep after bilateral excision of multiple foot neuromas: a case report

    Directory of Open Access Journals (Sweden)

    Lettau Ludwig A

    2010-09-01

    Full Text Available Abstract Introduction Restless legs syndrome is a sensorimotor neurological disorder characterized by an urge to move the legs in response to uncomfortable leg sensations. While asleep, 70 to 90 percent of patients with restless legs syndrome have periodic limb movements in sleep. Frequent periodic limb movements in sleep and related brain arousals as documented by polysomnography are associated with poorer quality of sleep and daytime fatigue. Restless legs syndrome in middle age is sometimes associated with neuropathic foot dysesthesias. The causes of restless legs syndrome and periodic limb movements in sleep are unknown, but the sensorimotor symptoms are hypothesized to originate in the central nervous system. We have previously determined that bilateral forefoot digital nerve impingement masses (neuromas may be a cause of both neuropathic foot dysesthesias and the leg restlessness of restless legs syndrome. To the best of our knowledge, this case is the first report of bilateral foot neuromas as a cause of periodic limb movements in sleep. Case presentation A 42-year-old Caucasian woman with severe restless legs syndrome and periodic limb movements in sleep and bilateral neuropathic foot dysesthesias was diagnosed as having neuromas in the second, third, and fourth metatarsal head interspaces of both feet. The third interspace neuromas represented regrowth (or 'stump' neuromas that had developed since bilateral third interspace neuroma excision five years earlier. Because intensive conservative treatments including repeated neuroma injections and various restless legs syndrome medications had failed, radical surgery was recommended. All six neuromas were excised. Leg restlessness, foot dysesthesias and subjective sleep quality improved immediately. Assessment after 18 days showed an 84 to 100 percent reduction of visual analog scale scores for specific dysesthesias and marked reductions of pre-operative scores of the Pittsburgh sleep

  1. RadNet Air Data From Mason City, IA

    Science.gov (United States)

    This page presents radiation air monitoring and air filter analysis data for Mason City, IA from EPA's RadNet system. RadNet is a nationwide network of monitoring stations that measure radiation in air, drinking water and precipitation.

  2. Bilateral acute retinal necrosis associated with bilateral uveal effusion in an immunocompetent patient: A challenging association

    Directory of Open Access Journals (Sweden)

    S Bala Murugan

    2018-01-01

    Full Text Available Bilateral uveal effusion syndrome associated with bilateral acute retinal necrosis is a diagnostic and therapeutic challenge. A 52 year old man presented with bilateral angle closure with choroidal detachment. With restricted fundus view, parenteral steroid was started. During close follow up bilateral discrete areas of peripheral retinitis were noted. Parenteral steroids were promptly stopped and parenteral antivirals with oral steroids were continued. It showed healing response with nil recurrences till last follow up. Aggressive treatment of bilateral uveal effusion with parenteral steroids can cause progression of bilateral acute retinal necrosis leading to phthisis bulbi. However early diagnosis, prompt intervention and close follow up are the key elements to therapeutic success even during diagnostic surprises and avoid costly mistakes.

  3. Estudo da resistência do tendão do supra-espinal com pontos simples, duplos e Mason Allen Study on the resistance of the supraspinous tendon using simple, matress and mason allen stitches

    Directory of Open Access Journals (Sweden)

    Roberto Yukio Ikemoto

    2010-01-01

    Full Text Available OBJETIVO: O objetivo do trabalho foi comparar a resistência entre os pontos simples, duplo e Mason-Allen modificado, utilizados para o reparo do manguito rotador, e verificar se há diferença significativa que justifique a utilização do ponto do tipo Mason-Allen modificado ao invés dos pontos simples ou duplo. MÉTODO: Retiramos tendões do músculo supra-espinal de 15 cadáveres humanos frescos (30 ombros, com a média de idade de 45 anos. Os testes foram realizados na máquina universal de ensaio mecânico Kratos® 500/2000 e os resultados submetidos aos testes estatísticos de t-student, análise de variância (ANOVA, comparação múltipla de Bonferroni e calculadas as correlações de Pearson. Os testes foram realizados ao nível de significância de 5%. RESULTADOS: Não houve diferença significativa com relação à idade, ao tamanho das amostras e deslocamento do tendão. A resistência variou com média de 127,50 N com o ponto simples, 163,95 N com o duplo e com o ponto de Mason-Allen modificado esta foi de 198,45 N. CONCLUSÃO: não existe diferença da resistência no tendão quanto à falha na interface sutura - tendão comparando-se o ponto duplo com o Mason-Allen modificado e os pontos simples e duplo, porém há diferença quando comparados os pontos simples e Mason-Allen modificado.OBJECTIVE: The purpose of this study was to compare the rotator cuff tendon resistance at the interface tendon-suture using three different sorts of stitches (simple, mattress and modified Mason-Allen. METHODS: To do this, 30 rotator cuffs were totally dissected from 15 specimens, which were 45 years old on average. The tests were done using a Kratos® 500/2000 machine and the statistical analyses applied were the Student t-test, ANOVA test, Multiple Bonferroni Comparison, and Pearson's correlation coefficients; all the analyses used a significance level of 5%. RESULTS: No significant difference was observed regarding the age, sample sizes and

  4. Bilateral Upper Extremity DVT in a 43-Year-Old Man: Is It Thoracic Outlet Syndrome?!

    Directory of Open Access Journals (Sweden)

    Hadoun Jabri

    2014-01-01

    Full Text Available Recurrent deep venous thrombosis, involving bilateral upper extremities, is an extremely rare phenomenon. We are presenting a 43-year-old man who was diagnosed with left upper extremity deep vein thrombosis (UEDVT and was treated with anticoagulation and surgical decompression in 2004. 9 years later, he presented with right arm swelling and was diagnosed with right UEDVT using US venous Doppler. Venogram showed compression of the subclavian vein by the first rib, diagnosing thoracic outlet syndrome (TOS. He was treated with anticoagulation and local venolysis and later by surgical decompression of the subclavian vein. Bilateral UEDVT, as mentioned above, is an extremely rare condition that is uncommonly caused by TOS. To our knowledge, we are reporting the first case of bilateral UEDVT due to TOS. Diagnosis usually starts with US venous Doppler to detect the thrombosis, followed by the gold standard venogram to locate the area of obstruction and lyse the thrombus if needed. The ultimate treatment for TOS remains surgical decompression of the vascular bundle at the thoracic outlet.

  5. Disrupted Auto-Activation, Dysexecutive and Confabulating Syndrome Following Bilateral Thalamic and Right Putaminal Stroke

    Directory of Open Access Journals (Sweden)

    Lieve De Witte

    2008-01-01

    Full Text Available Objective: Clinical, neuropsychological, structural and functional neuroimaging results are reported in a patient who developed a unique combination of symptoms after a bi-thalamic and right putaminal stroke. The symptoms consisted of dysexecutive disturbances associated with confabulating behavior and auto-activation deficits. Background: Basal ganglia and thalamic lesions may result in a variety of motor, sensory, neuropsychological and behavioral syndromes. However, the combination of a dysexecutive syndrome complicated at the behavioral level with an auto-activation and confabulatory syndrome has never been reported. Methods: Besides clinical and neuroradiological investigations, an extensive set of standardized neuropsychological tests was carried out. Results: In the post-acute phase of the stroke, a dysexecutive syndrome was found in association with confabulating behavior and auto-activation deficits. MRI showed focal destruction of both thalami and the right putamen. Quantified ECD SPECT revealed bilateral hypoperfusions in the basal ganglia and thalamus but no perfusion deficits were found at the cortical level. Conclusion: The combination of disrupted auto-activation, dysexecutive and confabulating syndrome in a single patient following isolated subcortical damage renders this case exceptional. Although these findings do not reveal a functional disruption of the striato-ventral pallidal-thalamic-frontomesial limbic circuitry, they add to the understanding of the functional role of the basal ganglia in cognitive and behavioral syndromes.

  6. Bilateral congenital lacrimal fistulas in an adult as part of ectrodactyly-ectodermal dysplasia-clefting syndrome: A rare anomaly.

    Science.gov (United States)

    Ghosh, Debangshu; Saha, Somnath; Basu, Sumit Kumar

    2015-10-01

    Ectrodactyly-ectodermal dysplasia and clefting syndrome or "Lobster claw" deformity is a rare congenital anomaly that affects tissues of ectodermal and mesodermal origin. Nasolacrimal duct (NLD) obstruction with or without atresia of lacrimal passage is a common finding of such a syndrome. The authors report here even a rarer presentation of the syndrome which manifested as bilateral NLD obstruction and lacrimal fistula along with cleft lip and palate, syndactyly affecting all four limbs, mild mental retardation, otitis media, and sinusitis. Lacrimal duct obstruction and fistula were managed successfully with endoscopic dacryocystorhinostomy (DCR) which is a good alternative to lacrimal probing or open DCR in such a case.

  7. Bilateral congenital lacrimal fistulas in an adult as part of ectrodactyly-ectodermal dysplasia-clefting syndrome: A rare anomaly

    Directory of Open Access Journals (Sweden)

    Debangshu Ghosh

    2015-01-01

    Full Text Available Ectrodactyly-ectodermal dysplasia and clefting syndrome or "Lobster claw" deformity is a rare congenital anomaly that affects tissues of ectodermal and mesodermal origin. Nasolacrimal duct (NLD obstruction with or without atresia of lacrimal passage is a common finding of such a syndrome. The authors report here even a rarer presentation of the syndrome which manifested as bilateral NLD obstruction and lacrimal fistula along with cleft lip and palate, syndactyly affecting all four limbs, mild mental retardation, otitis media, and sinusitis. Lacrimal duct obstruction and fistula were managed successfully with endoscopic dacryocystorhinostomy (DCR which is a good alternative to lacrimal probing or open DCR in such a case.

  8. Bilateral Odontogenic Keratocyst of the Mandible

    OpenAIRE

    Ram, Hari; Mohammad, Shadab; Husain, Nuzhat; Gupta, Shalini; Kumar, Ajay

    2011-01-01

    Odontogenic keratocyst (OKC) is a cyst of dental origin with an aggressive clinical behavior, having high recurrence rate. Multiple cysts are associated with bifid-rib basal cell nevus syndrome (Gorlin syndrome). We present a case of bilateral odontogenic keratocyst in a cleft lip patient.

  9. 78 FR 28622 - Notice of Approval of Record of Decision for Extending F-Line Streetcar Service to Fort Mason...

    Science.gov (United States)

    2013-05-15

    ...] Notice of Approval of Record of Decision for Extending F-Line Streetcar Service to Fort Mason Center... Environmental Impact Statement (Final EIS) for extending the F-Line historic streetcar service to Fort Mason... turnaround terminus at the Fort Mason Center; and installing appurtenant features such as signals, crossings...

  10. Creating an environment for caring using lean principles of the Virginia Mason Production System.

    Science.gov (United States)

    Nelson-Peterson, Dana L; Leppa, Carol J

    2007-06-01

    As healthcare leaders search for viable options to cut costs, increase efficiencies, and improve the product that they offer to customers, many are looking at different business models to adopt. At the same time, an aging workforce of nurses feel the pressure of being overworked and understaffed, resulting in both decreased job and patient satisfaction. Virginia Mason Medical Center in Seattle, Wash, has implemented the Virginia Mason Production System, using proven concepts adapted from the Toyota Production System that effectively eliminate "muda" or waste, in workplace processes. The authors discuss the application of the Virginia Mason Production System and how it has resulted in increased time for nurses to care for their patients.

  11. Bilateral perisylvian syndrome not related to malformations: report of two cases Sindrome peri-silviana bilateral não relacionada a malformações: relato de dois casos

    Directory of Open Access Journals (Sweden)

    Ralf Paulo Grasel

    1996-06-01

    Full Text Available In this case report we present the neuroimaging findings and clinical features of two patients with a bilateral perisylvian syndrome not related to malformations, but probably to ischemic etiology. Evaluations including history, general and neurologic examinations, electroencephalograms, and imaging data were reviewed as recent literature about the subject.Neste relato de caso, apresentamos os achados de neuroimagem e os aspectos clínicos de dois pacientes com síndrome peri-silviana bilateral não relacionada a malformações, mas provavelmente a uma etiologia isquêmica. Avaliações, incluindo história, exames físico e neurológico, eletrencefalograma e aspectos de imagem foram revistos, assim como a literatura recente sobre o assunto.

  12. Bilateral hand/wrist heat and cold hyperalgesia, but not hypoesthesia, in unilateral carpal tunnel syndrome.

    Science.gov (United States)

    de la Llave-Rincón, Ana Isabel; Fernández-de-las-Peñas, César; Fernández-Carnero, Josué; Padua, Luca; Arendt-Nielsen, Lars; Pareja, Juan A

    2009-10-01

    The aim of the current study was to evaluate bilaterally warm/cold detection and heat/cold pain thresholds over the hand/wrist in patients with carpal tunnel syndrome (CTS). A total of 25 women with strictly unilateral CTS (mean 42 +/- 10 years), and 20 healthy matched women (mean 41 +/- 8 years) were recruited. Warm/cold detection and heat/cold pain thresholds were assessed bilaterally over the carpal tunnel and the thenar eminence in a blinded design. Self-reported measures included both clinical pain history (intensity, location and area) and Boston Carpal Tunnel Questionnaire. No significant differences between groups for both warm and cold detection thresholds in either carpal tunnel or thenar eminence (P > 0.5) were found. Further, significant differences between groups, but not between sides, for both heat and cold pain thresholds in both the carpal tunnel and thenar eminence were found (all P < 0.001). Heat pain thresholds (P < 0.01) were negatively correlated, whereas cold pain thresholds (P < 0.001) were positively correlated with hand pain intensity and duration of symptoms. Our findings revealed bilateral thermal hyperalgesia (lower heat pain and reduced cold pain thresholds) but not hypoesthesia (normal warm/cold detection thresholds) in patients with strictly unilateral CTS when compared to controls. We suggest that bilateral heat and cold hyperalgesia may reflect impairments in central nociceptive processing in patients with unilateral CTS. The bilateral thermal hyperalgesia associated with pain intensity and duration of pain history supports a role of generalized sensitization mechanisms in the initiation, maintenance and spread of pain in CTS.

  13. Autoprocessing of Mason-Pfizer monkey virus protease

    Czech Academy of Sciences Publication Activity Database

    Bauerová, Helena; Rumlová, Michaela; Hunter, E.; Ruml, T.; Pichová, Iva

    2001-01-01

    Roč. 77, č. 2 (2001), s. 131-133 ISSN 0168-1702 R&D Projects: GA ČR GA203/00/1241; GA AV ČR IAA4055904 Grant - others:Fogarty International Award(US) TW00050 Institutional research plan: CEZ:AV0Z4055905 Keywords : Mason-Pfizer monkey virus Subject RIV: CE - Biochemistry Impact factor: 1.806, year: 2001

  14. Constitutive Soil Properties for Mason Sand and Kennedy Space Center

    Science.gov (United States)

    Thomas, Michael A.; Chitty, Daniel E.

    2011-01-01

    Accurate soil models are required for numerical simulations of land landings for the Orion Crew Exploration Vehicle (CEV). This report provides constitutive material models for two soil conditions at Kennedy Space Center (KSC) and four conditions of Mason Sand. The Mason Sand is the test sand for LaRC s drop tests and swing tests of the Orion. The soil models are based on mechanical and compressive behavior observed during geotechnical laboratory testing of remolded soil samples. The test specimens were reconstituted to measured in situ density and moisture content. Tests included: triaxial compression, hydrostatic compression, and uniaxial strain. A fit to the triaxial test results defines the strength envelope. Hydrostatic and uniaxial tests define the compressibility. The constitutive properties are presented in the format of LSDYNA Material Model 5: Soil and Foam. However, the laboratory test data provided can be used to construct other material models. The soil models are intended to be specific to the soil conditions they were tested at. The two KSC models represent two conditions at KSC: low density dry sand and high density in-situ moisture sand. The Mason Sand model was tested at four conditions which encompass measured conditions at LaRC s drop test site.

  15. The York-Mason technique for recto-urethral fistulas Correção de fistula reto-uretral pela técnica de York-Mason

    Directory of Open Access Journals (Sweden)

    Alexandre Crippa

    2007-01-01

    Full Text Available OBJECTIVE: Recto-urethral fistula formation following radical prostatectomy is an uncommon but potentially devastating event. There is no consensus in the literature regarding the treatment of these fistulas. We present here our experiences treating recto-urethral fistulas. MATERIAL AND METHODS: We analyzed 8 cases of rectourethral fistula treated at our institution in the last seven years. Seven of the patients underwent repair of the fistula using the modified York-Mason procedure. RESULTS: The causes of the fistula were radical retropubic prostatectomy in five patients, perineal debridement of Fournier's gangrene in one, transvesical prostatectomy in one and transurethral resection of the prostate in the other patient. The most common clinical manifestation was fecaluria, present in 87.5% of the cases. The mean time elapsed between diagnosis and correction of the fistula was 29.6 (7-63 months. One spontaneous closure occurred after five months of delayed catheterization. Urinary and retrograde urethrocystography indicated the site of the fistula in 71.4% of the cases. No patient presented recurrence of the fistula after its correction with the modified York-Mason procedure. CONCLUSION: The performance of routine colostomy and cystostomy is unnecessary. The technique described by York-Mason permits easy access, reduces surgical and hospitalization times and presents low complication and morbidity rates when surgically correcting recto-urethral fistulas.OBJETIVO: As fístulas reto-uretrais são de acesso difícil e por vezes complexo, sendo seu fechamento espontâneo raro. Com o diagnóstico precoce e aumento do número de intervenções, principalmente a cirurgia por adenocarcinoma da próstata localizado, sua incidência apesar de rara vem crescendo. Nós demonstramos a nossa experiência dos casos de fístulas reto-uretrais entre 2000 a 2006 com uma serie de oito pacientes, sendo que sete realizaram correção da fístula pela Técnica de

  16. Bilateral posterior tarsal tunnel syndrome caused by accessory flexor digitorum longus; case report and surgical technique.

    Science.gov (United States)

    Schmidt-Hebbel, A; Elgueta, J; Villa, A; Mery, P; Filippi, J

    To present a case report of bilateral posterior tarsal tunnel syndrome (PTTS) caused by an accessory flexor digitorum longus (AFDL), including the surgical technique and a review of the literature. Twenty-nine year old male diagnosed with bilateral PTTS, refractory to conservative management, with 53 points on the preoperative AOFAS score. MR of both ankles showed an AFDL within the tarsal tunnel, in close relationship to the posterior tibial nerve. Bilateral tarsal tunnel decompression and AFDL resection was performed. There were no post-operative complications. At 6 months after surgery, the patient had no pain and had 87 points on the AOFAS score. The PTTS is an entrapment neuropathy of the posterior tibial nerve or one of its terminal branches. A rare cause is the presence of an AFDL, and its resection is associated with good clinical results. Careful scar tissue resection and neurolysis is recommended. Knowing the normal pathway and anatomical variability of the posterior tibial nerve and its branches is essential to avoid iatrogenic injury. In our case report, MR and intraoperative findings identified a bilateral FDLA in close relationship to the common flexor digitorum, an unusual finding, with few reports in current literature. Careful tarsal tunnel decompression and AFDL resection in our patient with bilateral symptomatic PTTS has good clinical results and no complications, particularly when diagnosed and treated early. Copyright © 2015 SECOT. Publicado por Elsevier España, S.L.U. All rights reserved.

  17. Bilateral acute retinal necrosis-A case report

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    Prasad Palimar

    1992-01-01

    Full Text Available A 42 year old man presented with acute bilateral uveitis and necrotizing retinitis. Systemic investigations including test for AIDS and CMV retinitis were negative. Despite oral Acyclovir, both eyes progressed rapidly to retinal detachment with loss of vision. Early recognition is necessary to diagnose the bilateral acute retinal necrosis syndrome and initiate treatment. Bilateral acute retinal necrosis (BARN is a term first coined by Young and Bird in 1978 although the syndrome had been originally described by Urayama et al as an unilateral condition. This syndrome is characterized by the triad of acute confluent peripheral necrotizing retinitis, moderate to severe vasculitis and vitritis in an otherwise healthy individual. Rhegmatogenous retinal detachment occurs within two to three months of the onset of the disease and the second eye is involved in 36% of patients, usually within 6 weeks. We herein report a patient who presented with simultaneous BARN leading to retinal detachment in a matter of days. Also, to our knowledge this is the first report of this condition in India.

  18. 77 FR 5585 - Northwestern Mutual Series Fund, Inc. and Mason Street Advisors, LLC; Notice of Application

    Science.gov (United States)

    2012-02-03

    ... SECURITIES AND EXCHANGE COMMISSION [Investment Company Act Release No. 29939; File No. 812-13982] Northwestern Mutual Series Fund, Inc. and Mason Street Advisors, LLC; Notice of Application January 30, 2012... instruments. Applicants: Northwestern Mutual Series Fund, Inc. (``Company'') and Mason Street Advisors, LLC...

  19. Historical stages of «Masonic conspiracy» formation in Russia, second half of the XVIII century – early XX centuries

    Directory of Open Access Journals (Sweden)

    Ermakov V.A.

    2017-03-01

    Full Text Available the author typologizes historiographical works on the history of Freemasonry, which studies the problems of version formation of «Masonic conspiracy» in Russia. The article shows the cultural and historical specificity of «Masonic conspiracy» in European and Russian policy, ztructures chronology of activities of Masonic organizations aimed at the formation of a political conspiracy against the Russian Orthodox monarchy. The author investigates the activities of prominent representatives of Russian culture and the Russian government, the participants of Masonic organizations and issue of taking control of the Russian state authorities Masonic lodges in Russia and also the differences in the activity of Masonic and paramasonskih societies. The relationship of Masonry and the «liberation movement» has been analyzed. As a result, the author concluded that the «Masonic conspiracy» in Russia had been presented as the highest form of organization of anti-government forces, which under the cover of political liberalism and cultural and educational activities pursued the goal of political upheaval and the elimination of autocracy.

  20. “Paradoxical Continuity: Antimasonry as a Progressi on of Masonic Ideals”

    Directory of Open Access Journals (Sweden)

    Max A. Loder

    2013-01-01

    Full Text Available La masonería en las primeras décadas de la existencia de los Estados Unidos tenía un lugar jactanciosoen lasociedad. Representaba lo mejor de los valores -lalibertad, la moral, el aprendizaje-, de la sociedadidealrepublicana, con los más respetados personajes de mérito llenando sus filas. Sin embargo, para la década de 1840casi la masonería había sido llevada a su extinción. A pesar de que con el tiempo se recuperó en número demiembros, aunque sea como una de las muchas organizaciones fraternas ordinarias, las preguntas de porqué ycómo el movimiento antimasónico tuvo tanto éxito enla reducción de una hermandad que incluyópersonalidades de la talla de Benjamin Franklin y George Washington siguen siendo aún pertinentes. Enunintento de responder a ellas se he consultado fuentes primarias como periódicos contemporáneos, así comofuentes secundarias escritas por expertos en el campo. Mis investigaciones me llevaron a la conclusiónde quepoderosos cambios económicos, sociales, políticos yreligiosos en las primeras décadas de la repúblicaconspiraron para cambiar las bases de la masonería.La misma definición de mérito había democratizadoy lavieja élite de lo que algunos pensaron como una aristocracia republicana, representada por la masonería, seconvirtió cada vez más en un blanco de desprecio. Irónicamente, parece que fue la exaltación de la virtudrepublicana en la masonería lo que contribuyó a facilitar el éxito del movimiento antimasónico. La masónica-ilustrada idealización de la libertad, la virtud yla sociedad civil se adaptó bien a la joven república que muchosde sus miembros estaban ayudando a crear. El movimiento antimasónico, entonces, representa una continuaciónde los ideales masónicos en un clima de mayor democracia para el hombre común.

  1. Wernekink Commissure Syndrome Secondary to Bilateral Caudal Paramedian Midbrain Infarction Presenting with a Unique “Heart or V” Appearance Sign: Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Chenguang Zhou

    2017-08-01

    Full Text Available Wernekink commissure syndrome secondary to caudal paramedian midbrain infarction (CPMI is a rare midbrain syndrome involving the decussation of the superior cerebellar peduncle in the caudal paramedian midbrain tegmentum. The central characteristics are constant bilateral cerebellar dysfunction, variable eye movement disorders, and rare delayed palatal myoclonus. Following is a description of the case of a 60-year-old man who presented with dizziness, slurred speech, and difficulty walking. Neurological examination revealed bilateral cerebellar dysfunction and bilateral internuclear ophthalmoplegia (bilateral INO. Serial magnetic resonance imaging (MRI revealed a lesion in the caudal paramedian midbrain with a “heart-shaped” sign on fluid-attenuation inversion recovery images and a “V-shaped” appearance on diffusion-weighted imaging (DWI. An acute CPMI with a “heart or V” appearance sign was diagnosed. Upon follow-up evaluation 3 months later, a palatal tremor accompanied by involuntary head tremor was discovered. Hypertrophy and increased signal of the bilateral inferior olivary nucleus, compatible with hypertropic olivary degeneration (HOD were revealed during a subsequent MRI study.

  2. Bilateral Dentigerous Cyst: An Unusual Case Report and Review of Literature

    Directory of Open Access Journals (Sweden)

    Shweta Tikekar

    2010-01-01

    Full Text Available Dentigerous cysts are the most common developmental cysts of the jaws, most frequently associated with impacted mandibular third molar teeth. Bilateral dentigerous cysts are rare and occur typically in association with a developmental syndrome. The reported occurrence of bilateral dentigerous cysts in the absence of a syndrome is rare and, to date, only 17 cases have been described. The following is a report of a case of unusual bilateral nonsyndromic dentigerous cysts associated with developing mandibular second premolars and a review of literature.

  3. Bilateral congenital corneal keloids and anterior segment mesenchymal dysgenesis in a case of Rubinstein-Taybi syndrome.

    Science.gov (United States)

    Rao, Srinivas K; Fan, Dorothy S P; Pang, C P; Li, Winnie W Y; Ng, Joan S K; Good, William V; Lam, Dennis S C

    2002-01-01

    To report the unusual association of bilateral corneal keloids and anterior segment mesenchymal dysgenesis in a child with Rubinstein-Taybi syndrome. Case report of a 2-year-old boy. Excision of the epicorneal mass in the right eye was followed by recurrence of the lesion. Multiple penetrating keratoplasties were unsuccessful in reconstructing the anterior segment because of recurrent corneal epithelial breakdown, suggesting limbal stem cell insufficiency. Histopathology and electron microscopy of the excised mass lesion showed features typical of a corneal keloid: thickened keratinized epithelium, absent Bowman's layer, and fibrovascular hyperplasia, with haphazard orientation of the collagen lamellae. Ultrasound biomicroscopy and intraoperative findings suggested a diagnosis of Peter anomaly, but genetic analysis did not show a PAX6 mutation. The findings in our patient add to the spectrum of ocular changes described in Rubinstein-Taybi syndrome and confirm earlier reports of poor ocular prognosis in corneal keloids and Rubinstein-Taybi syndrome.

  4. “El imaginario de la propaganda franquista sobre la llamada ‘masonería femenina’”

    Directory of Open Access Journals (Sweden)

    María José Lacalzada de Mateo

    2013-01-01

    Full Text Available El sometimiento de las mujeres y la falta de confianza en ellas por parte de los hombres de la masonería, supapel subsidiario, parece haya quedado flotando como tópico y espejismo. Al margen de los efectos concretosque esta clase de libro (La Masonería Femenina consiguió en la España de post-guerra, hemos de constatar enqué términos queda distorsionada la imagen femenina: la mujer como tal aparece subyugada; las logias demujeres tienen una función subalterna, sometidas alos designios de los hombres masones. Si cruzamos estapercepción residual con la realidad de que dentro de la masonería ha venido manteniéndose una corrienteexclusivamente masculina que solo acoge a las mujeres en su órbita para participar de la filosofía y en accionesbenéficas, el espejismo está servido y el discursovictimista, por más que se revista de progresista,también.

  5. Structural study of Mason-Pfizer monkey virus protease

    Czech Academy of Sciences Publication Activity Database

    Veverka, V.; Bauerová, Helena; Hrabal, R.; Pichová, Iva

    2002-01-01

    Roč. 269, - (2002), s. 57-58 ISSN 0014-2956. [Meeting of the Federation of European Biochemical Societies /28./. 20.10.2002-25.10.2002, Istanbul] R&D Projects: GA ČR GA203/00/1241 Institutional research plan: CEZ:AV0Z4055905 Keywords : Mason-Pfizer monkey virus Subject RIV: CE - Biochemistry

  6. 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.

  7. Political goals during liquidation of masonic organizations by Joint State Political Directorate – People's Commissariat of Internal Affairs in USSR in the 1920s–1930s

    Directory of Open Access Journals (Sweden)

    Ermakov V.A.

    2017-04-01

    Full Text Available this research is dedicated to the political specificity of elimination of «masonic underground organization» by soviet special forces in USSR. The issue of relations between communist movements with political masonry was also considered in the article. It appears that in the beginning of 1920s «freemasons» planned prospects in cooperation with Bolsheviks, while having hidden goal to «cover» Soviet government with masonic ideas. Masons of 1920s were quite satisfied with Bolshevism as a weapon to eradicate Russian national self-awareness and its Orthodox religion. Liquidation process of masonic underground, which started in 1925, was conditioned by inner-party strife between «Stalinists», conducting anti-masonic and anti-Zionist campaigns, and «Trotskyists», who appeared to be a weapon of international masonic politics in Soviet Russia. Authors conclude that liquidation of occult-masonic underground in USSR had several political goals: covering communist party leaders' masonic past, elimination masons as potential western secret service agents, threatening conservative intelligentsia, exposure masonic people from the environment of Soviet officials and cultural elites, extermination masonic alternative of communistic ideology and preparation of «grand terror» against «Lenin's guard».

  8. Bilateral Gonadal Cysts and Late Diagnosis of Androgen Insensitivity Syndrome Treated by Laparoscopic Gonadectomy

    Directory of Open Access Journals (Sweden)

    D. Tourlakis

    2011-01-01

    Full Text Available Background. Complete androgen insensitivity syndrome is a rare syndrome in which the uterus is absent and testes rather than ovaries are present. Patients usually visit a gynecologist due to primary amenorrhea. Case. A forty-eight-year-old woman with lower abdominal pain and anamnesis of uterus agenesis was operated on due to bilateral cystic masses. A 5 × 3 × 1.2 cm left adnexal cyst revealed the presence of a serous cyst with a hypoplastic ductus deferens. A smaller cyst of the right adnexa revealed immature testis tissue with Leydig-cell hyperplasia. After karyotype and hormonal examinations, laparoscopic gonadectomy was performed. Conclusion. Attention should be paid in all cyst-removing operations in cases of uterus agenesis, due to the high incidence of malignancy. Not of less importance is the issue of informing the patient in the most appropriate way.

  9. Mason: a JavaScript web site widget for visualizing and comparing annotated features in nucleotide or protein sequences.

    Science.gov (United States)

    Jaschob, Daniel; Davis, Trisha N; Riffle, Michael

    2015-03-07

    Sequence feature annotations (e.g., protein domain boundaries, binding sites, and secondary structure predictions) are an essential part of biological research. Annotations are widely used by scientists during research and experimental design, and are frequently the result of biological studies. A generalized and simple means of disseminating and visualizing these data via the web would be of value to the research community. Mason is a web site widget designed to visualize and compare annotated features of one or more nucleotide or protein sequence. Annotated features may be of virtually any type, ranging from annotating transcription binding sites or exons and introns in DNA to secondary structure or domain boundaries in proteins. Mason is simple to use and easy to integrate into web sites. Mason has a highly dynamic and configurable interface supporting multiple sets of annotations per sequence, overlapping regions, customization of interface and user-driven events (e.g., clicks and text to appear for tooltips). It is written purely in JavaScript and SVG, requiring no 3(rd) party plugins or browser customization. Mason is a solution for dissemination of sequence annotation data on the web. It is highly flexible, customizable, simple to use, and is designed to be easily integrated into web sites. Mason is open source and freely available at https://github.com/yeastrc/mason.

  10. Primary Sjogren’s Syndrome Presented with Sensory Ataxia Associated with Bilateral Hearing Loss and Dementia

    Directory of Open Access Journals (Sweden)

    Madjdinasab Nastaran

    2009-10-01

    Full Text Available Primary Sjorgen syndrome is one of the commonest autoimmune diseases with characteristic of involvement of lachrymal and salivary glands, but other organ involvements as peripheral and central nervous system are also possible. The reported case is a 23 year old lady presented with progressive sensory ataxia and weakness of four limbs, bilateral sensory hearing loss and cognitive impairment with minimental score equal to 15/30 since one year prior to admission with associated bilateral central corneal opacity, dry mouth and dry eyes. Electro physiologic studies showed sensory motor axonal polyneuropathy . A biopsy of sural nerve and salivary glands of lower lip showed lymphocytic infiltration. Serologic evidence showed positive Anti Ro (SS-B, negative HCV and HIV antibody, thereafter the diagnosis was confirmed and according to this diagnosis she received high dose of intravenous methyl prednisolon then both hearing loss and cognitive impairment improved partially (minimental score 21/30 . At last, she underwent plasmapheresis and her sensory ataxia improved greatly.

  11. Bilateral nanophthalmos and pigmentary retinal dystrophy--an unusual syndrome.

    Science.gov (United States)

    Proença, Helena; Castanheira-Dinis, A; Monteiro-Grillo, M

    2006-09-01

    To report the clinical picture of the rare association of nanophthalmos and pigmentary retinal dystrophy and its cataract surgery outcome. We report a case of a 60-year-old female who presented with bilateral slowly progressive visual loss. The patient presented with bilateral light perception visual acuity, exotropia, brunescent cataract hindering fundus examination and hypodontia. Ultrasonography revealed bilateral nanophthalmos. A visual-evoked potential was also performed preoperatively. Cataract surgery with +40D IOL implantation was uneventful. Postoperative fundus examination revealed pigmentary retinal dystrophy, confirmed by electrophysiologic tests. Glycosaminoglycan urinary excretion was normal. Congenital bilateral nanophthalmos may rarely be associated with pigmentary retinal dystrophy. We suggest thorough preoperative evaluation in nanophthalmic eyes for the exclusion of significant features concerning visual prognosis.

  12. Hyperbaric oxygen therapy as treatment for bilateral arm compartment syndrome after CrossFit: case report and literature review.

    Science.gov (United States)

    Mendes, Adriano Fernando; Neto, José da Mota; Heringer, Erica Maciel; de Simoni, Leandro Furtado; Pires, Diego Demolinari; Labronici, Pedro José

    2018-01-01

    CrossFit is a physical fitness program characterized by high-intensity workouts that can be associated with serious injury. Acute compartment syndrome in the upper limbs is a rare occurrence. It may occur after intense physical exercise, and its usual treatment is surgical. Hyperbaric oxygen therapy is a treatment described as adjunctive in cases of compartmental syndrome. We describe the case of a CrossFit practitioner who, after intense training, developed progressive symptoms of rhabdomyolysis and acute bilateral arm compartment syndrome, who was successfully treated with hyperbaric oxygen therapy and required no fasciotomy as surgical treatment. Acute compartment syndrome in the arms after intense physical exercise is a rare occurrence that should be suspected by practitioners of physical activity experiencing intense, disproportionate and progressive pain. In the case presented, hyperbaric oxygen therapy was successfully used in the treatment of the disorder, with satisfactory progress, and without the need for a surgical fasciotomy as therapy. Copyright© Undersea and Hyperbaric Medical Society.

  13. The Mason Water Data Information System (MWDIS): Enabling data sharing and discovery at George Mason University

    Science.gov (United States)

    Ferreira, C.; Da Silva, A. L.; Nunes, A.; Haddad, J.; Lawler, S.

    2014-12-01

    Enabling effective data use and re-use in scientific investigations relies heavily not only on data availability but also on efficient data sharing discovery. The CUAHSI led Hydrological Information Systems (HIS) and supporting products have paved the way to efficient data sharing and discovery in the hydrological sciences. Based on the CUAHSI-HIS framework concepts for hydrologic data sharing we developed a unique system devoted to the George Mason University scientific community to support university wide data sharing and discovery as well as real time data access for extreme events situational awareness. The internet-based system will provide an interface where the researchers will input data collected from the measurement stations and present them to the public in form of charts, tables, maps, and documents. Moreover, the system is developed in ASP.NET MVC 4 using as Database Management System, Microsoft SQL Server 2008 R2, and hosted by Amazon Web Services. Currently the system is supporting the Mason Watershed Project providing historical hydrological, atmospheric and water quality data for the campus watershed and real time flood conditions in the campus. The system is also a gateway for unprecedented data collection of hurricane storm surge hydrodynamics in coastal wetlands in the Chesapeake Bay providing not only access to historical data but recent storms such as Hurricane Arthur. Future research includes coupling the system to a real-time flood alert system on campus, and besides providing data on the World Wide Web, to foment and provide a venue for interdisciplinary collaboration within the water scientists in the region.

  14. "Las Mujeres en la Masonería Españóla (1868 - 1939"

    Directory of Open Access Journals (Sweden)

    Natividad Ortiz Albear

    2012-01-01

    Full Text Available En EspaÒa la presencia de mujeres en la masonerÌa entre 1868 y 1939 constituye un hecho ampliamente documentado. A pesar de la prohibiciÛn que pesaba sobre la iniciaciÛn de mujeres, Èstas poblaron las logias espaÒolas a travÈs de diferentes modalidades, entre las que destacÛ el Rito de AdopciÛn . La publicaciÛn de Estatutos de AdopciÛn por parte del GOE mantuvo la ortodoxia masÛnica pero a la vez relegÛ a las mujeres a logias femeninas segregadas. Paralelamente se desarrolla un discurso entre los masones que refleja las contradicciones de una instituciÛn que defiende la igualdad como principio pero no la aplica de manera universal. Sin embargo, entre los masones espaÒoles predominÛ una actitud proclive a la aceptaciÛn de mujeres en sus filas en aras de un incipiente feminismo que reconocÌa la trascendencia social de los roles femeninos.

  15. Mobious syndrome: MR findings

    Directory of Open Access Journals (Sweden)

    Maskal Revanna Srinivas

    2016-01-01

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

  16. Bilateral pulmonary thromboembolism and Budd-Chiari syndrome in a patient with Crohn's disease on oral contraceptives Tromboembolismo de pulmón bilateral y síndrome de Budd-Chiari en paciente con enfermedad de Crohn y toma de anticonceptivos orales

    Directory of Open Access Journals (Sweden)

    M. Valdés Mas

    2009-09-01

    Full Text Available Budd-Chiari syndrome can be defined as an interruption or diminution of the normal blood flow out of the liver. Patients with Budd-Chiari syndrome present with varying degrees of symptomatology that can be divided into the following categories: fulminant, acute, subacute and chronic. The subacute form is the most common presentation. A majority of patients with Budd-Chiari syndrome have an underlying hypercoagulability state. We present the case of a young woman with Crohn's disease on oral contraceptives who developed bilateral pulmonary thromboembolism and Budd-Chiari syndrome.El síndrome de Budd-Chiari consiste en la interrupción o disminución de flujo de las venas suprahepáticas. Tiene una gran variabilidad clínica en cuanto a su forma de presentación siendo la más frecuente la forma subaguda. La gran mayoría de los pacientes responden a estados de hipercoagulabilidad. Presentamos el caso de una paciente joven con enfermedad de Crohn que estaba en tratamiento con anticonceptivos orales y desarrolló un cuadro clínico de tromboembolismo de pulmón bilateral y síndrome de Budd-Chiari.

  17. Bilateral Periventricular Nodular Heterotopia

    OpenAIRE

    J Gordon Millichap

    1998-01-01

    Two unrelated boys, ages 8 and 5 years, with a syndrome of bilateral periventricular nodular heterotopia (BPNH), regional cortical dysplasia, mild mental retardation, and frontonasal malformation (FNM) are reported from the Instituto di Neuropsychiatria Infantile, University of Pisa, Italy, and the Institute of Human Genetics, University of Minnesota Medical School, Minneapolis, MN.

  18. Bilateral vocal fold immobility in a patient with overlap syndrome rheumatoid arthritis/systemic sclerosis.

    Science.gov (United States)

    Ingegnoli, Francesca; Galbiati, Valentina; Bacciu, Andrea; Zeni, Silvana; Fantini, Flavio

    2007-10-01

    Bilateral vocal fold immobility (BVFI) can be the result of a primary disorder or as an iatrogenic complication of surgery or intubation. Laryngeal involvement can be a rare complication of connective tissue disorders and it usually occurs in association with other symptoms and signs that indicate active disease. We present a case of BVFI in a patient with an overlap syndrome rheumatoid arthritis/systemic sclerosis, referred to our division because of dysphonia and dyspnea. The video-laryngostroboscopy showed the presence of BVFI. Physical examination, blood tests, lung and neck high resolution computed tomography scans did not demonstrate significant abnormalities. She was treated with pulses of intravenous methylprednisolone with slow improvement.

  19. Posterior retroperitoneoscopic adrenal surgery for clinical and subclinical Cushing's syndrome in patients with bilateral adrenal disease.

    Science.gov (United States)

    Lowery, Aoife J; Seeliger, Barbara; Alesina, Pier F; Walz, Martin K

    2017-08-01

    The treatment of hypercortisolism for patients with bilateral adrenal disease (BAD) is controversial. Bilateral total adrenalectomy results in permanent hypocortisolaemia requiring lifelong steroid replacement. A more conservative surgical approach, with less than bilateral total adrenalectomy (leaving functional adrenal tissue either unilaterally or bilaterally), represents an alternative option; however, long-term outcome or recurrence data are limited. We report our experience with the surgical management of hypercortisolism caused by BAD. Between 2004 and 2016, 42 patients (12 male, 30 female; mean age 58 ± 10 years) with clinical or subclinical Cushing's syndrome (CS/sCS) caused by BAD underwent adrenal surgery via the posterior retroperitoneoscopic approach. Adrenal surgery was defined as "adrenalectomy" when total gland excision was performed or "resection" when a partial or subtotal adrenal resection was performed. Clinical, radiological and biochemical parameters were evaluated preoperatively and postoperatively. Seventy adrenal operations performed in total included unilateral resection (n = 3), unilateral adrenalectomy (n = 15), bilateral resection (n = 9), adrenalectomy and contralateral resection (n = 14) and bilateral total adrenalectomy (n = 3). Median operating time was 47.5 min (30-150) with no difference between unilateral and bilateral (synchronous included) procedures (p = 0.15). Mortality was zero. Clavien-Dindo grade of postoperative complications was I (n = 5) and IV (n = 3). All but one patient with CS and 17/31 patients with sCS received postoperative steroid supplementation for a median duration of 20 (1.5-129) months. After median follow-up of 40 months (3-129), the remission rate was 92%; 11 patients required ongoing steroid supplementation. There were three biochemical recurrences (two underwent contralateral resection); two patients with new/progressive radiological nodularity are biochemically eucortisolaemic. A

  20. Arthroscopic modified Mason-Allen technique for large U- or L-shaped rotator cuff tears.

    Science.gov (United States)

    Jung, Sung-Weon; Kim, Dong-Hee; Kang, Seung-Hoon; Lee, Ji-Heon

    2017-07-01

    While a conventional single- or double-row repair technique could be applied for repair of C-shaped tears, a different surgical strategy should be considered for repair of U- or L-shaped tears because they typically have complex patterns with anterior, posterior, or both mobile leaves. This study was performed to examine the outcomes of the modified Mason-Allen technique for footprint restoration in the treatment of large U- or L-shaped rotator cuff tears. Thirty-two patients who underwent an arthroscopic modified Mason-Allen technique for large U- or L-shaped rotator cuff tears between January 2012 and December 2013 were included in this study. Margin convergence was first performed to reduce the tear gap and tension, and then, an arthroscopic Mason-Allen technique was performed to restore the rotator cuff footprint in a side-to-end repair fashion. All patients were evaluated preoperatively and for a minimum of 2 years of follow-up with a visual analog scale (VAS) for pain, Constant score, and ultrasonography. There was significant improvement in all VAS and Constant scores compared with the preoperative values (P rotator cuff in our data. Overall satisfactory results were achieved in most patients, with the exception of those with severe fatty degeneration. An arthroscopic modified Mason-Allen technique could be an effective and reliable alternative for patients with large U- or L-shaped rotator cuff tears. Case Series, Therapeutic Level IV.

  1. 76 FR 58849 - Legg Mason Partners Equity Trust, et al.;

    Science.gov (United States)

    2011-09-22

    ... SECURITIES AND EXCHANGE COMMISSION [Investment Company Act Release No. 29789; File No. 812-13892] Legg Mason Partners Equity Trust, et al.; Notice of Application September 15, 2011. AGENCY: Securities and Exchange Commission (``Commission''). ACTION: Notice of an application under section 6(c) of the...

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

    African Journals Online (AJOL)

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

  3. Evaluation of unilateral versus bilateral ovarian drilling in clomiphene citrate resistant cases of polycystic ovarian syndrome.

    Science.gov (United States)

    Roy, K K; Baruah, Jinee; Moda, Nidhi; Kumar, Sunesh

    2009-10-01

    Laparoscopic ovarian drilling (LOD) has been put forward as the treatment of choice in women with clomiphene citrate (CC)-resistant polycystic ovary syndrome (PCOS), with tubo-ovarian adhesion formation as the major disadvantage. Our study proposed to compare the efficacy of laparoscopic unilateral ovarian drilling with bilateral ovarian drilling in terms of ovulation and pregnancy rate with the expected advantage of decreasing postoperative adhesion rate and change in fimbiro ovarian relationship with unilateral drilling. This prospective randomized study included 44 patients with anovulatory infertility due to PCOS. Twenty-two patients underwent unilateral ovarian drilling in group-I and 22 patients underwent bilateral ovarian drilling in group-II between June 2005 and June 2007. The number of drilling site in each ovary was limited to five. The clinical and biochemical response, ovulation and pregnancy rates over a follow-up period of 1 year were compared. Tubo-ovarian adhesion rate was compared during cesarean section or during repeat laparoscopy. There was no statistical difference between the two groups in terms of clinical and biochemical response, ovulation rate and pregnancy rate. Postoperatively, tubo-ovarian adhesions could be assessed in 36.3% of the patients and no adhesions were found in a single case in either group. Unilateral drilling cauterization of ovary is equally efficacious as bilateral drilling in inducing ovulation and achieving pregnancy. Unilateral ovarian drilling may be a suitable option in clomiphene citrate resistant infertility patient of PCOS which can replace bilateral ovarian drilling with the potential advantage of decreasing the chances of adhesion formation.

  4. An adult case of the developmental apraxia, agnosia, Gerstmann's syndrome with bilateral parieto-temporo-occipital lesions in brain CT

    International Nuclear Information System (INIS)

    Suzuki, Toshihito; Shiraishi, Hiroyasu; Koizumi, Junzo; Ichikawa, Tadahiko; Hayakawa, Tatsuo.

    1986-01-01

    A 36-year-old woman with a history of cerebral meningitis had various neuropsychological disorders, such as Gerstmann's syndrome, developmental apraxia and agnosia and difficulty in reading, in addition to moderate mental retardation and epileptoid. Cranial CT showed bilateral low-density areas with temporo-parieto-occipital extension. It seems that these lesions result from meningitis and are responsible for the occurrence of neuropsychological disorders. (Namekawa, K.)

  5. Bilateral granulosa cell tumors: a novel malignant manifestation of multiple endocrine neoplasia 1 syndrome found in a patient with a rare menin in-frame deletion

    Directory of Open Access Journals (Sweden)

    Hall MJ

    2015-02-01

    Full Text Available Michael J Hall,1 Julie Innocent,2 Christina Rybak,1 Colleen Veloski,3 Walter J Scott,4 Hong Wu,5 John A Ridge,4 John P Hoffman,4 Hossein Borghaei,2 Aruna Turaka,6 Mary B Daly1 1Department of Clinical Genetics, 2Department of Medical Oncology, 3Department of Internal Medicine, 4Department of Surgical Oncology, 5Department of Pathology, 6Department of Radiation Oncology, Fox Chase Cancer Center, Philadelphia, PA, USA Introduction: Multiple endocrine neoplasia 1 (MEN1 is a cancer syndrome resulting from mutations of the MEN1 gene. The syndrome is characterized by neoplasia of the parathyroid and pituitary glands, and malignant tumors of the endocrine pancreas. Other manifestations include benign lipomas, angiofibromas, and carcinoid tumors commonly originating in the colon, thymus, and lung. This is the first report of MEN1 syndrome manifesting as bilateral granulosa cell ovarian tumors, and which is associated with a rare intronic mutation of the MEN1 gene. Case report: A 41-year-old woman presented with abdominal pain, increasing abdominal girth, and dysmenorrhea. Ultrasound demonstrated enlarged ovaries and uterine fibroids. After an exploratory laparotomy, she subsequently underwent bilateral salpingo–oophorectomy with hysterectomy where the pathology revealed bilateral cystic granulosa cell tumors of the ovaries. Additional workup including computed tomography imaging discovered a thymic mass, which the pathology showed was malignant, along with a pancreatic mass suspicious for a neuroendocrine tumor. Hyperparathyroidism was also discovered and was found to be secondary to a parathyroid adenoma. Genetic testing revealed an exceedingly rare mutation in the MEN1 gene (c.654 + 1 G>A. Discussion: Mutations of the menin gene leading to MEN1 syndrome are classically nonsense or missense mutations producing a dysfunctional protein product. Recently, researchers described a novel mutation of MEN1 (c.654 + 1 G>A in a male proband meeting the criteria

  6. Bilateral inferior petrosal sinus sampling using vasopressin

    Directory of Open Access Journals (Sweden)

    Narendra Kotwal

    2016-01-01

    Full Text Available Context: Anatomical localization of pituitary adenoma can be challenging in adrenocorticotropic hormone (ACTH-dependent Cushing's syndrome, and bilateral inferior petrosal sinus sampling (BIPSS is considered gold standard in this regard. Stimulation using corticotrophin-releasing hormone (CRH improves the sensitivity of BIPSS, however, same is not easily available in India. Therefore, we undertook this study of BIPPS using vasopressin as agent for stimulation owing to its ability to stimulate V3 receptors present on corticotrophs. Aims: To study the tumor localization and lateralization in difficult to localize cases of ACTH-dependent Cushing's syndrome by bilateral inferior petrosal sinus sampling using vasopressin for corticotroph stimulation. Settings and Design: Prospective observational study. Subjects and Methods: Six patients (5 females meeting inclusion criteria underwent BIPSS using vasopressin for stimulation. Results: All six patients had nonsuppressible overnight and low dose dexamethasone suppression test with elevated plasma ACTH levels suggestive of ACTH-dependent Cushing's syndrome. High dose dexamethasone suppression test showed suppressible cortisol in two cases, and microadenoma was seen in two patients on magnetic resonance imaging pituitary. Contrast enhanced computed tomography of the abdomen showed left adrenal hyperplasia in one case and anterior mediastinal mass with bilateral adrenal hyperplasia another. Using BIPSS four patients were classified as having Cushing's disease that was confirmed histopathologically following surgery. Of the remaining two, one had primary pigmented nodular adrenocortical disease, and another had thymic carcinoid with ectopic ACTH production as the cause of Cushing's syndrome. No serious adverse events were noted. Conclusions: Vasopressin may be used instead of CRH and desmopressin for stimulation in BIPSS.

  7. A rare differential diagnosis to occupational neck pain: bilateral stylohyoid syndrome

    Directory of Open Access Journals (Sweden)

    Vogel Tobias

    2006-06-01

    Full Text Available Abstract Chronic neck pain is widely prevalent and a common source of disability in the working-age population. Etiology of chronic neck pain includes neck sprain, mechanical or muscular neck pain, myofascial pain syndrome, postural neck pain as well as pain due to degenerative changes. We report the case of a 42 year old secretary, complaining about a longer history of neck pain and limited movement of the cervical spine. Surprisingly, the adequate radiologic examination revealed a bilateral ossification of the stylohyoid ligament complex. Her symptoms remained intractable from conservative treatment consisting of anti-inflammatory medication as well as physical therapy. Hence the patient was admitted to surgical resection of the ossified stylohyoid ligament complex. Afterwards she was free of any complaints and went back to work. Therefore, ossification of the stylohyoid ligament complex causing severe neck pain and movement disorder should be regarded as a rare differential diagnosis of occupational related neck pain.

  8. Nondimensional scaling of magnetorheological rotary shear mode devices using the Mason number

    Science.gov (United States)

    Becnel, Andrew C.; Sherman, Stephen; Hu, Wei; Wereley, Norman M.

    2015-04-01

    Magnetorheological fluids (MRFs) exhibit rapidly adjustable viscosity in the presence of a magnetic field, and are increasingly used in adaptive shock absorbers for high speed impacts, corresponding to high fluid shear rates. However, the MRF properties are typically measured at very low (γ ˙10,000 s-1) Searle cell magnetorheometer, along with a full scale rotary-vane magnetorheological energy absorber (γ ˙>25,000 s-1) are employed to analyze MRF property scaling across shear rates using a nondimensional Mason number to generate an MRF master curve. Incorporating a Reynolds temperature correction factor, data from both experiments is shown to collapse to a single master curve, supporting the use of Mason number to correlate low- and high-shear rate characterization data.

  9. Anaesthesia management of a case of Jervell and Lange-Nielsen syndrome for minimally invasive bilateral thoracoscopic cervicothoracic sympathectomy

    Directory of Open Access Journals (Sweden)

    Preety Mittal Roy

    2016-01-01

    Full Text Available Long QT syndrome (LQTS is an arrhythmogenic cardiac disorder resulting from the malfunction of cardiac ion channels. Patient with LQTS may present with syncope, seizures or sudden cardiac death secondary to polymorphic ventricular tachycardia (VT or torsades de pointes. Patient may be asymptomatic in the pre-operative period but may develop VT for the first time in operation theatre. We are reporting anaesthetic management of a child with LQTS planned for bilateral thoracoscopic cervicothoracic sympathectomy.

  10. Liberales, masones, ¿subversivos?

    Directory of Open Access Journals (Sweden)

    Bonaudo, Marta

    2007-08-01

    Full Text Available The article centers its interest in approaching the problematic of the masonics lodges not only as organizations key of the bourgeois sociability but by the role played in the dynamics of the de nominated «modern» politic, as much in the plane of the ideas, of the liberal values, republican and democratic as in the land of the organizations forms and construction of new identities.

    El artículo centra su interés en abordar la problemática de las logias masónicas no sólo en tanto entidades clave de la sociabilidad burguesa sino por el papel jugado en la dinámica de la denominada política «moderna», tanto en el plano de las ideas, de los valores liberales, republicanos y democráticos como en el terreno de las formas organizativas y de construcción de nuevas identidades.

  11. Prune belly syndrome in an adult Nigerian: case report.

    Science.gov (United States)

    Salako, A A; Takure, A O; Olajide, A O; Aarowolo, O A; Egberongbe, A A

    2009-12-01

    Prune Belly Syndrome is a rare congenital anomaly characterized by deficient anterior abdominal wall musculature, bilateral cryptorchidism, bilateral megaureters and often unilateral or bilateral vesico-ureteric junction obstruction. The report of prune belly syndrome in the adult is scanty. We report a case of prune belly syndrome in a 24 year old Nigerian who presented with 3 year history of recurrent right loin pain. Examination showed wrinkled abdominal skin, bilateral undescended testes and an hypoplastic rectus abdominis, below the umbilicus. Further evaluation revealed enlarged bladder, bilateral megaureters and right intra-abdominal testis. A diagnosis of Prune Belly Syndrome was made. The challenges in the diagnosis and management of this rare condition are highlighted in this presentation.

  12. Umbilical KeyPort bilateral laparoscopic orchiectomy in patient with complete androgen insensitivity syndrome

    Directory of Open Access Journals (Sweden)

    Felipe P. Andrade

    2012-10-01

    Full Text Available MAIN FINDINGS: A 22-year-old woman with complete androgen insensitivity syndrome (CAIS presenting with primary amenorrhea and normal female external genitalia was referred for laparoscopic gonadectomy. She had been diagnosed several years earlier but was reluctant to undergo surgery. CASE HYPOTHESIS: Diagnosis of this X-linked recessive inherited syndrome characterizes by disturbance of virilization in males with an AR mutation, XY karyotipe, female genitalia and severely undescended testis with risk of malignization. The optimal time to orchidectomy is not settled; neither the real risk of malignancy in these patients. Early surgery impacts development of a complete female phenotype, with enlargement of the breasts. Based on modern diagnostic imaging using DCE-MRI and surgical technology with single port laparoscopic access we hypothesize that the optimum time for gonadectomy is not at the time of diagnosis, but once feminization has completed. PROMISING FUTURE IMPLICATIONS: An umbilical laparoendoscopic single-site access for bilateral gonadectomy appears to be the first choice approach as leaves no visible incision and diminishes the psychological impact of surgery in a patient with CAIS absolutely reassured as female. KeyPort, a single port access with duo-rotate instruments developed by Richard Wolf facilitates this surgery and allows excellent cosmetic results.

  13. Krausistas y masones: un proyecto educativo común. El caso belga

    Directory of Open Access Journals (Sweden)

    Susana MONREAL

    2010-03-01

    Full Text Available RESUMEN: El estudio de la incidencia conjunta del krausismo y de la masonería en algunas instituciones educativas belgas y en su filosofía inspiradora no ha motivado, hasta el momento, investigaciones específicas. Por el contrario, existen interesantes trabajos, algunos muy recientes, sobre la influencia del pensamiento krausista o de las logias masónicas en el campo educativo. Debemos citar, en lo que se refiere a la presencia krausista en la naciente Universidad Libre de Bruselas, el artículo de John Bartier, L'Université libre de Bruxelles au temps de Théodore Verhaegen. Publicado entre 1959 y I960 , y republicado en 1981, dicho estudio guarda plena vigencia. Dos artículos, más recientes, de Roger Desmed resultan esclarecedores a propósito de las relaciones de la masonería belga con los proyectos en favor de la implantación de la enseñanza primaria obligatoria y laica en Bélgica.

  14. Masonería y educación en la España contemporánea. Entre la tolerancia y el dogmatismo

    Directory of Open Access Journals (Sweden)

    José Ignacio Cruz Orozco

    2017-01-01

    Full Text Available En este trabajo vamos a centrarnos casi en exclusiva en las iniciativas planteadas por diversas entidades masónicas, ya sean potencias, logias regionales o talleres, más que en personas exponiendo solamente algunas de las experiencias más relevantes y que ejemplifican mejor las intervenciones y actuaciones de la masonería española en relación con los enfoques descritos. La visibilidad que han alcanzado otras parcelas e interpretaciones del comportamiento, de los masones en particular y de las iniciativas de la masonería como institución, no nos deben ocultar la faceta desarrollada en torno a la educación. ¿Qué importancia tuvo el proceso formativo llevado a cabo en los talleres masónicos a sus integrantes? ¿Qué lugar ocupó la masonería en el desarrollo educativo español?

  15. Simultan bilateral perifer facialisparese er en sjælden præsentationsform af Guillain-Barrés syndrom

    DEFF Research Database (Denmark)

    Frahm-Falkenberg, Siska; Dornonville de la Cour, Charlotte; Andersen, Preben Borring

    2014-01-01

    This case report describes a 63-year-old male presenting with five days progressing bilateral peripheral facial paralysis and mild sensory symptoms. Cerebrospinal fluid showed albumin-cytological dissociation. Nerve conduction studies showed slightly reduced conduction velocity, slightly prolonged...... F-wave latency and temporal dispersion. Following treatment with IV immunoglobulin (0.4 g/kg/day for five consecutive days) recovery was prominent, though incomplete. This is believed to be the first described case in Denmark of the very rare variant of Guillain-Barré syndrome termed "facial...

  16. Poland-Mobius syndrome in an infant girl.

    Science.gov (United States)

    Al-Mazrou, Khalid A; Al-Ghonaim, Yazeed A; Al-Fayez, Abdulrhman I

    2009-01-01

    Mobius syndrome is a rare condition of unclear origin, characterized by a unilateral or bilateral congenital facial weakness with impairment of ocular abduction, which is frequently associated with limb anomalies . Poland described a condition in which there was unilateral absence of pectoralis major muscle and ipsilateral syndactyly. The combination of Poland-Mobius syndrome is rare, with an estimated prevalence 1:500 000. We describe a case of Poland-Mobius syndrome in association with congenital bilateral vocal fold immobility. To our knowldge, this is the first report of such an association between Poland-Mobius syndrome and congenital bilateral vocal fold immobility.

  17. Comparative study of unilateral versus bilateral inferior oblique recession/anteriorization in unilateral inferior oblique overaction.

    Science.gov (United States)

    Mostafa, Attiat M; Kassem, Rehab R

    2018-05-01

    To compare the effect of, and the rate of subsequent development of iatrogenic antielevation syndrome after, unilateral versus bilateral inferior oblique graded recession-anteriorization to treat unilateral inferior oblique overaction. Thirty-four patients with unilateral inferior oblique overaction were included in a randomized prospective study. Patients were equally divided into 2 groups. Group UNI underwent unilateral, group BI bilateral, inferior oblique graded recession-anteriorization. A successful outcome was defined as orthotropia, or within 2 ∆ of a residual hypertropia, in the absence of signs of antielevation syndrome, residual inferior oblique overaction, V-pattern, dissociated vertical deviation, or ocular torticollis. A successful outcome was achieved in 11 (64.7%) and 13 (76.5%) patients in groups UNI and BI, respectively (p = 0.452). Antielevation syndrome was diagnosed as the cause of surgical failure in 6 (35.3%) and 2 (11.8%) patients, in groups UNI and BI, respectively (p = 0.106). The cause of surgical failure in the other 2 patients in group BI was due to persistence of ocular torticollis and hypertropia in a patient with superior oblique palsy and a residual V-pattern and hypertropia in the other patient. The differences between unilateral and bilateral inferior oblique graded recession-anteriorization are insignificant. Unilateral surgery has a higher tendency for the subsequent development of antielevation syndrome. Bilateral surgery may still become complicated by antielevation syndrome, although at a lower rate. In addition, bilateral surgery had a higher rate of undercorrection. Further studies on a larger sample are encouraged.

  18. A case of WAGR syndrome in association with developmental glaucoma requiring bilateral Baerveldt glaucoma implants and subsequent tube repositioning

    Directory of Open Access Journals (Sweden)

    Akagi T

    2015-06-01

    Full Text Available Tadamichi Akagi, Munemitsu Yoshikawa, Hideo Nakanishi, Nagahisa Yoshimura Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan Abstract: Glaucoma drainage device implantation is efficacious for the treatment of pediatric glaucoma patients when multiple angle surgeries fail. However, tube touching of the corneal endothelium is one of the major postoperative complications to deal with. A 15-month-old male patient with Wilms’ tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR syndrome was diagnosed with bilateral developmental glaucoma. He underwent Baerveldt glaucoma implant (BGI surgeries in both eyes after multiple failed trabeculotomies. The tube in his right eye was touching the cornea 15 months after BGI surgery. To avoid corneal endothelium damage, BGI tube repositioning with scleral fixation was performed without serious complications. The bilateral BGI surgeries achieved successful intraocular pressure reduction for over 2 years and tube repositioning with scleral fixation of BGI tube was successful for BGI tube malposition. Although careful attention to intraocular pressure and tube malposition is essential after glaucoma drainage device implantation, especially in pediatric cases, BGI surgery is effective in the management of developmental glaucoma following unsuccessful angle surgeries. Keywords: Baerveldt glaucoma implant, developmental glaucoma, WAGR syndrome, tube repositioning, glaucoma drainage device

  19. Una forma moderna de sociabilidad: inicio de la Masonería en Chile (1862

    Directory of Open Access Journals (Sweden)

    Marcos Mauricio Parada Ulloa

    2018-01-01

    Full Text Available El presente estudio es un análisis heurístico e interpretativo y tiene como propósito analizar los antecedentes fundacionales de la masonería en Chile durante la segunda mitad del siglo XIX. Para ello, se identifican las vías de ingreso de los extranjeros en territorio Latinoamericano y nacional que fue a partir de los puertos del pacífico lo que permitió la fundación de logias. En el caso de Chile el ingreso de la masonería fue a través de los puertos de Valparaíso y Talcahuano, gracias a la movilidad de comerciantes, artesanos y profesionales de origen británico, francés y norteamericano, lo que permitió la llegada de la Orden a las ciudades de Concepción y Copiapó. La institucionalización de la masonería en Chile fue con la fundación de la Gran Logia de Chile en 1862, lo que favoreció la consolidación de la Orden en el país, la fundación de logias en distintas ciudades y la iniciación de chilenos durante las siguientes décadas.

  20. Prosopografía y redes sociales: notas metodológicas sobre el estudio de la masonería en Costa Rica

    Directory of Open Access Journals (Sweden)

    Ricardo Martínez Esquivel

    2015-01-01

    Full Text Available La prosopografía permite conocer quiénes fueron los masones desde el punto de vista sociológico(características y rasgos sociales, pero también da información sobre la dinámica y la praxis social individualy grupal. Por consiguiente, con la prosopografía es posible construir biografías colectivas de la vida pública yasociativa de los masones. Esto permite acercarse a las relaciones entre la estructura y las dinámicas socialesdel grupo de masones, así como a la realidad social y el contexto histórico en que se desenvolvieron. Por lotanto, en el siguiente trabajo se explica el método prosopográfico y la interpretación de sus resultados según lateoría de redes sociales a partir de la experiencia de investigación sobre la masonería en Costa Rica.

  1. Unilateral or bilateral vagotomy induces ovulation in both ovaries of rats with polycystic ovarian syndrome.

    Science.gov (United States)

    Linares, Rosa; Hernández, Denisse; Morán, Carolina; Chavira, Roberto; Cárdenas, Mario; Domínguez, Roberto; Morales-Ledesma, Leticia

    2013-07-17

    Injecting estradiol valerate (EV) to pre-pubertal or adult female rat results in effects similar to those observed in women with polycystic ovarian syndrome (PCOS). One of the mechanisms involved in PCOS development is the hyperactivity of the sympathetic nervous system. In EV-induced PCOS rats, the unilateral sectioning of the superior ovarian nerve (SON) restores ovulation of the innervated ovary. This suggests that, in addition to the sympathetic innervation, other neural mechanisms are involved in the development/maintenance of PCOS. The aims of present study were analyze if the vagus nerve is one of the neural pathways participating in PCOS development. Ten-day old rats were injected with EV dissolved in corn oil. At 24-days of age sham-surgery, unilateral, or bilateral sectioning of the vagus nerve (vagotomy) was performed on these rats. The animals were sacrificed at 90-92 days of age, when they presented vaginal estrous preceded by a pro-estrus smear. In EV-induced PCOS rats, unilateral or bilateral vagotomy restored ovulation in both ovaries. Follicle-stimulating hormone (FSH) levels in PCOS rats with unilateral or bilateral vagotomy were lower than in control rats. This result suggests that in EV-induced PCOS rats the vagus nerve is a neural pathway participating in maintaining PCOS. The vagus nerve innervates the ovaries directly and indirectly through its synapsis in the celiac-superior-mesenteric ganglion, where the somas of neurons originating in the SON are located. Then, it is possible that vagotomy effects in EV-induced PCOS rats may be explained as a lack of communication between the central nervous system and the ovaries.

  2. Bilateral deficits in fine motor control and pinch grip force are not associated with electrodiagnostic findings in women with carpal tunnel syndrome.

    Science.gov (United States)

    de la Llave-Rincón, Ana Isabel; Fernández-de-Las-Peñas, César; Pérez-de-Heredia-Torres, Marta; Martínez-Perez, Almudena; Valenza, Marie Carmen; Pareja, Juan A

    2011-06-01

    : The aim of this study was to analyze the differences in deficits in fine motor control and pinch grip force between patients with minimal, moderate/mild, or severe carpal tunnel syndrome (CTS) and healthy age- and hand dominance-matched controls. : A case-control study was conducted. The subtests of the Purdue Pegboard Test (one-hand and bilateral pin placements and assemblies) and pinch grip force between the thumb and the remaining four fingers of the hand were bilaterally evaluated in 66 women with minimal (n = 16), moderate (n = 16), or severe (n = 34) CTS and in 20 age- and hand-matched healthy women. The differences among the groups were analyzed using different mixed models of analysis of variance. : A two-way mixed analysis of variance revealed significant differences between groups, not depending on the presence of unilateral or bilateral symptoms (side), for the one-hand pin placement subtest: patients showed bilateral lower scores compared with controls (P < 0.001), without differences among those with minimal, moderate, or severe CTS (P = 0.946). The patients also exhibited lower scores in bilateral pin placement (P < 0.001) and assembly (P < 0.001) subtests, without differences among them. The three-way analysis of variance revealed significant differences among groups (P < 0.001) and fingers (P < 0.001), not depending on the presence of unilateral/bilateral symptoms (P = 0.684), for pinch grip force: patients showed bilateral lower pinch grip force in all fingers compared with healthy controls, without differences among those with minimal, moderate, or severe CTS. : The current study revealed similar bilateral deficits in fine motor control and pinch grip force in patients with minimal, moderate, or severe CTS, supporting that fine motor control deficits are a common feature of CTS not associated with electrodiagnostic findings.

  3. Using Mason number to predict MR damper performance from limited test data

    Science.gov (United States)

    Becnel, Andrew C.; Wereley, Norman M.

    2017-05-01

    The Mason number can be used to produce a single master curve which relates MR fluid stress versus strain rate behavior across a wide range of shear rates, temperatures, and applied magnetic fields. As applications of MR fluid energy absorbers expand to a variety of industries and operating environments, Mason number analysis offers a path to designing devices with desired performance from a minimal set of preliminary test data. Temperature strongly affects the off-state viscosity of the fluid, as the passive viscous force drops considerably at higher temperatures. Yield stress is not similarly affected, and stays relatively constant with changing temperature. In this study, a small model-scale MR fluid rotary energy absorber is used to measure the temperature correction factor of a commercially-available MR fluid from LORD Corporation. This temperature correction factor is identified from shear stress vs. shear rate data collected at four different temperatures. Measurements of the MR fluid yield stress are also obtained and related to a standard empirical formula. From these two MR fluid properties - temperature-dependent viscosity and yield stress - the temperature-corrected Mason number is shown to predict the force vs. velocity performance of a full-scale rotary MR fluid energy absorber. This analysis technique expands the design space of MR devices to high shear rates and allows for comprehensive predictions of overall performance across a wide range of operating conditions from knowledge only of the yield stress vs. applied magnetic field and a temperature-dependent viscosity correction factor.

  4. Multiplicity and Self-Identity: Trauma and Integration in Shirley Mason's Art

    Science.gov (United States)

    Thompson, Geoffrey

    2011-01-01

    This viewpoint appeared in its original form as the catalogue essay that accompanied the exhibition "Multiplicity and Self-Identity: Trauma and Integration in Shirley Mason's Art," curated by the author for Gallery 2110, Sacramento, CA, and the 2010 Annual Conference of the American Art Therapy Association. The exhibition featured 17 artworks by…

  5. Masonería y educación en la Cataluña contemporánea

    Directory of Open Access Journals (Sweden)

    Buenaventura DELGADO

    2010-03-01

    Full Text Available RESUMEN: Se acepta, por lo común, la opinión de que la masonería coadyuvó, durante los siglos XVIII y XIX, al triunfo y consolidación de los valores que hemos convenido en llamar modernos. La razón, la ciencia, la dignidad humana, la justicia y la libertad fueron, entre otros, principios asumidos por los masones como propios, y sobre los que se debía edificar el nuevo templo de la modernidad. Tampoco los proyectos de filantropía, interpretada como un amor hacia la humanidad y mejora del género humano, quedaban al margen del ideario masónico.

  6. ASYMMETRY OF SOMATOSENSORY CORTICAL PLASTICITY IN PATIENT WITH BILATERAL CARPAL TUNNEL SYNDROME

    Directory of Open Access Journals (Sweden)

    Hikmat Hadoush

    2017-09-01

    Full Text Available Background: Following peripheral nerve lesion, the adult somatosensory system showedcortical reorganizational abilities.Previous studies identified the digits' somatotopy map changes and somatosensory cortical plasticity in response to the Carpal Tunnel Syndrome (CTS that affected the dominant hand only. Objective: Answering the remained question is that what the extent of the cortical plasticity would be in left and right somatosensory cortices in response to CTS affecting the right and left hands simultaneously. Methods: Cortical representations activated by tactile stimulation of median nerve (index and ulnar nerve (little of both dominant and non-dominant hands were evaluated by Magnetoencephalography (MEG systemfor healthy participants and patient with bilateral moderate CTS. index – little fingers'somatotopy map and inter-digit cortical distance was then mapped and calculated for each participant on the real MRI data and the 3D brain surface image. Results: in healthy participants, index – little inter-digit somatosensory cortical distance of right hand (dominant was significantly larger than the index – little inter-digitsomatosensory cortical distance of left hand (11.2±2.1mm vs.7.0±2.9mm, P = 0.006. However, in patient with bilateral CTS, the index – little inter-digit somatosensory cortical distance of righthand (dominant was significantly smaller than the index – little inter-digit somatosensory cortical distance of left hand (5.8mm vs. 7.4mm. Conclusion: our data could be interpreted as the hand use – dependency served more median nerve – cortical territory from the ulnar nerve invasion in the right somatotopy map (left hand than the left somatotopy map of the right hand.

  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. “La masonería en México, entre las sociedades secretas y patrióticas, 1813-1830”

    Directory of Open Access Journals (Sweden)

    María Eugenia Vázquez Semadeni

    2010-01-01

    Full Text Available ¿Qué distingue a la masonería de otras sociedades secretas o de las sociedades patrióticas? ¿Lo que hubo en México entre 1823 y 1830, sigue siendo masonería a pesar de su condición de centros de acción política? En este trabajo se intentará responder éstas y otras preguntas que se desprenden del complejo accionar de los masones en México durante las primeras décadas del siglo XIX, proponiendo algunas definiciones operativas, así como aplicándolas a los casos concretos de las organizaciones masónicas, paramasónicas, sociedades patrióticas y secretas que funcionaron en el país en esos años.

  9. Laparoscopic hysterectomy with bilateral orchidectomy for Persistent Mullerian duct syndrome with seminoma testes: Case report

    Directory of Open Access Journals (Sweden)

    Senthilnathan Palanisamy

    2015-01-01

    Full Text Available Persistent Mullerian duct syndrome (PMDS is one of the three rare intersex disorders caused by defective anti-mullerian hormone or its receptor, characterized by undescended testes with presence of underdeveloped derivatives of mullerian duct in genetically male infant or adult with normal external genitals and virilization. This population will essentially have normal, 46(XY, phenotype. We hereby present a case of PMDS, presented with incarcerated left inguinal hernia associated with cryptorchidism and seminoma of right testes. Patient underwent laparoscopic hernia repair with bilateral orchidectomy and hysterectomy with uneventful postoperative recovery. Here we highlight the importance of minimal access approach for this scenario in terms of better visualization, less blood loss, combining multiple procedures along with early return to work and excellent cosmetic outcome.

  10. Management of moyamoya syndrome in patients with Noonan syndrome.

    Science.gov (United States)

    Gupta, Mihir; Choudhri, Omar A; Feroze, Abdullah H; Do, Huy M; Grant, Gerald A; Steinberg, Gary K

    2016-06-01

    A few isolated reports have described an association between Noonan syndrome and cerebrovascular abnormalities, including moyamoya syndrome. These reports have been limited to pediatric patients presenting with recurrent transient ischemic attacks (TIA) or headaches. Management has primarily been pharmacologic, with only one prior report of surgical revascularization to our knowledge. We report four cases of Noonan syndrome patients presenting with headaches and/or sensorimotor strokes in childhood that caused unilateral sensorimotor impairment. Cerebral angiography and MRI revealed bilateral moyamoya syndrome. All patients underwent successful bilateral extracranial-to-intracranial revascularization. The first patient was a 10-year-old girl who presented following a hemorrhagic stroke and recovered well after indirect bypass. The second patient was an adult with a history of childhood stroke whose symptoms progressed in adulthood. She underwent a direct bypass and improved, but continued to experience TIA at her 4 year follow-up. The third patient was a 7-year-old girl with headaches and a new onset TIA who failed pharmacological therapy and subsequently underwent bilateral indirect bypass. The fourth patient was a 24-year-old woman with worsening headaches and an occluded left middle cerebral artery from unilateral moyamoya syndrome. A left sided direct bypass was completed given delayed MRI perfusion with poor augmentation. To our knowledge these are the first reported surgical cases of combined Noonan and moyamoya syndrome. These cases highlight the need to recognize moyamoya syndrome in patients with Noonan syndrome. Early surgical revascularization should be pursued in order to prevent symptom progression. Copyright © 2015 Elsevier Ltd. All rights reserved.

  11. A RARE CASE OF BILATERAL MICROSPHEREPHAKIA

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    Pandu

    2015-05-01

    Full Text Available Microspherophakia is rare bilateral congenital anamoly of the crystalline lens. The condition may be isolated , familial or it may be associated with systemic affections like Marfan's syndrome , Weil - Marchesani syndrome , hyperlysinemia and congenital rubella. Microspherophakia results in lenticular myopia , lens dislocation , usually inferiorly and inverse glaucoma. We present a case in a 8 year old child who presented with bilateral microspherophakia and anterior dislocation of lens of right eye. visual acuity in right eye was counting fingers close to face and i n left eye 6/60.IOP with perkins applanation tonometer was 30mmHg in right eye 22mmHg in left eye , cornea was hazy due to edema , anterior chamber was shallow in both eye patient was managed with emergency lens extraction of right eye and secondary ACIOL im plantation. Left eye was managed by laser peripheral iridotomy. IOP was within normal limits postoperatively in both eyes without any antiglaucoma medications. Postoperatively best corrected visual acuity in right was 6/18 and 6/9 in left eye.

  12. De masonería, control y otras lealtades fraternales: el rescate de Porfirio Díaz por un hermano masón

    Directory of Open Access Journals (Sweden)

    Guillermo de los Reyes Heredia

    2015-01-01

    Full Text Available En este artículo se explora el papel que jugó Porfirio Díaz dentro de la masonería y su relación con dichainstitución. Se analiza una de las historias que comprueban que Díaz logró ciertos beneficios gracias a suafiliación masónica desde antes que fuera presidente de México. Esta historia narra la manera en que Díazlogró entrar de contrabando a México con la ayuda de un hermano masón en 1876, después de su breve exilioen Nuevo Orleans a bordo del buque de vapor, “City of Havana”. En un principio se pensaba que ésta erasimplemente una leyenda más del folklore que envuelve a la masonería. Sin embargo, dos testimonios, ambosde masones que iban en el mismo barco ratifican la historia que incluso el mismo historiador de la masoneríanorteamericana, William Deslow, catalogaba como un incidente, “no verificado.”Asimismo, se describe cómo Díaz promovió la unificación de las logias del rito escocés en unainstitución que se llamó La Gran Dieta Simbólica. La razón principal por la cual Díaz promovió talunificación, como se afirma en este artículo, fue para llevar a cabo su plan de pacificación nacional. Díazsabía que tenía que obtener el control de la masonería para evitar que ésta le causara problemas para lograr elorden y progreso que caracterizó a su gobierno. Por tal motivo, el dictador siempre vigiló que ni la masonería,ni cualquier otra institución que hubiera podido tener cierta influencia en la sociedad estuvieran fuera de sucontrol.

  13. Síndrome de Brown bilateral associada com hipermobilidade articular benigna: relato de caso Bilateral Brown's syndrome associated with benign joint hypermobility: a case report

    Directory of Open Access Journals (Sweden)

    David Kirsch

    2007-03-01

    Full Text Available A síndrome de Brown é caracterizada por grande limitação de elevação em adução, elevação ligeiramente diminuída ou normal na abdução, anisotropia em "Y" ou "V", intorção do olho em supraversão e ducção forçada positiva. Sua causa se deve à inelastibilidade do músculo oblíquo superior ou por sua contenção em sua própria bainha. A hipermobilidade articular benigna é doença hereditária do tecido conectivo caracterizada por aumento da mobilidade em diversas articulações. Sua prevalência é muito variável em relação à idade, sexo e etnia, variando de 2 a 35% em homens e de 5 a 57% e mulheres. Neste relato os autores descrevem um caso de síndrome de Brown associada com hipermobilidade articular benigna e atentam para a associação pouco referida na literatura. J.C.S, masculino, 6 anos de idade, pardo, estudante, foi encaminhado à Universidade de Santo Amaro com queixa de exotropia há dois anos que aumentava na supraversão. Paciente com o diagnóstico de síndrome de Brown bilateral teve o diagnóstico de hipermobilidade articular benigna pelo Reumatologista. O paciente com hipermobilidade articular benigna pode desenvolver sintomas articulares como artralgia devido a uma inflamação articular. Acreditamos na possibilidade de que síndrome de Brown possa ter ocorrido devido a processo inflamatório na tróclea que teve início devido a hipermobilidade articular benigna.Brown's syndrome is characterized by a limitation of elevation in adduction, slight or normal limitation of elevation in abduction, divergence in straight upgaze (V-pattern, intorsion in upgaze and positive forced duction. It is caused by a tight or inelastic superior oblique tendon. Benign joint hypermobility is a hereditary disease of the connective tissue characterized by an increase of mobility in diverse joints. Its prevalence is very changeable regarding age range, sex and ethnicity, varying from 2 to 35% in men and 5 to 57% in women. In

  14. Acute Korsakoff syndrome following mammillothalamic tract infarction.

    Science.gov (United States)

    Yoneoka, Yuichiro; Takeda, Norio; Inoue, Akira; Ibuchi, Yasuo; Kumagai, Takashi; Sugai, Tsutomu; Takeda, Ken-ichiro; Ueda, Kaoru

    2004-01-01

    There are limited case reports of structural lesions causing Korsakoff syndrome. This report describes acute Korsakoff syndrome following localized, bilateral infarction of the mammillothalamic tracts (MTTs). Axial T2-weighted imaging revealed the lesions at the lateral wall level of the third ventricle and diffusion-weighted imaging confirmed that the left lesion was new and the right old. Korsakoff syndrome persisted 6 months after the onset. This case suggests that bilateral MTT dysfunction can lead to Korsakoff syndrome.

  15. Bone-anchored maxillary expansion and bilateral interoral mandibular distraction osteogenesis in adult with severe obstructive sleep apnea syndrome.

    Science.gov (United States)

    Nie, Ping; Zhu, Min; Lu, Xiao-Feng; Fang, Bing

    2013-05-01

    Severe obstructive sleep apnea syndrome (OSAS) threatens patients' lives. To solve ventilation problem, snoring, and avoid another orthognathic surgery for mandibular advancement, bone-anchored rapid maxillary expansion and bilateral interoral mandibular distraction osteogenesis were tried on a 20-year-old Chinese male patient with severe skeletal class II malocclusion and OSAS.The patient had polysomnography (apnea-hypopnea index 54.2), body mass index measurement (19.7 kg/m), and cephalometry before the treatment. Bone-anchored rapid maxillary expansion was performed for the correction of maxillary transverse and minor sagittal deficiency and the improvement of nasal airflow by decreasing nasal resistance. Bilateral interoral mandibular distraction osteogenesis was operated to lengthen the small, retruded mandible by 15 mm. Orthodontic treatment after the maxillary expansion and mandibular distraction osteogenesis can help obtain stable occlusion.The Epworth Sleepiness Scale, a questionnaire for temporomandibular joint, cephalometric analysis, polysomnography, acoustic rhinometry, and multislice spiral computed tomography were performed to evaluate changes from the treatment. All the results showed that the patient had a significantly alleviated OSAS. In addition, an acceptable occlusion was also obtained.

  16. Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan syndrome in the extended family.

    Science.gov (United States)

    Reches, Adi; Yaron, Yuval; Burdon, Kathryn; Crystal-Shalit, Ornit; Kidron, Dvora; Malcov, Mira; Tepper, Ron

    2007-07-01

    To describe a family in which it was possible to perform prenatal diagnosis of Nance-Horan Syndrome (NHS). The fetus was evaluated by 2nd trimester ultrasound. The family underwent genetic counseling and ophthalmologic evaluation. The NHS gene was sequenced. Ultrasound demonstrated fetal bilateral congenital cataract. Clinical evaluation revealed other family members with cataract, leading to the diagnosis of NHS in the family. Sequencing confirmed a frameshift mutation (3908del11bp) in the NHS gene. Evaluation of prenatally diagnosed congenital cataract should include a multidisciplinary approach, combining experience and input from sonographer, clinical geneticist, ophthalmologist, and molecular geneticist.

  17. Hyperferritinemia without iron overload in patients with bilateral cataracts: a case series

    Directory of Open Access Journals (Sweden)

    Mumford Andrew

    2011-09-01

    Full Text Available Abstract Introduction Hepatologists and internists often encounter patients with unexplained high serum ferritin concentration. After exclusion of hereditary hemochromatosis and hemosiderosis, rare disorders like hereditary hyperferritinemia cataract syndrome should be considered in the differential diagnosis. This autosomal dominant syndrome, that typically presents with juvenile bilateral cataracts, was first described in 1995 and has an increasing number of recognized molecular defects within a regulatory region of the L-ferritin gene (FTL. Case presentation Two patients (32 and 49-year-old Caucasian men from our ambulatory clinic were suspected as having this syndrome and a genetic analysis was performed. In both patients, sequencing of the FTL 5' region showed previously described mutations within the iron responsive element (FTL c.33 C > A and FTL c.32G > C. Conclusion Hereditary hyperferritinemia cataract syndrome should be considered in all patients with unexplained hyperferritinemia without signs of iron overload, particularly those with juvenile bilateral cataracts. Liver biopsy and phlebotomy should be avoided in this disorder.

  18. Bilateral perisylvian ulegyria: an under-recognized, surgically remediable epileptic syndrome.

    Science.gov (United States)

    Schilling, Lucas P; Kieling, Renata R; Pascoal, Tharick A; Kim, Hyoung-Ihl; Lee, Min Cheol; Kim, Yun Hee; Paglioli, Eliseu; Neto, Pedro R; Costa, Jaderson C; Palmini, Andre

    2013-08-01

    Interest in the association of epilepsy and pseudobulbar palsy was rekindled since the identification through magnetic resonance imaging (MRI) of bilateral perisylvian polymicrogyria (PMG). Seizures are often intractable, but resective epilepsy surgery has not been recommended. However, a similar clinical picture can be encountered in patients with bilateral perisylvian destructive lesions, which fit the description of ulegyria (ULG). We report a series of patients with epilepsy and pseudobulbar palsy due to bilateral perisylvian ULG (BP-ULG), show that hippocampal sclerosis (HS) is often associated and highlight the fact that in this entity, unlike in malformative bilateral perisylvian PMG, seizures may be surgically treated. The motor, cognitive, epileptologic, and imaging features of 12 patients with perisylvian ULG followed at three institutions are described. For patients with refractory seizures, we detail extracranial and intracranial electrographic recordings, surgical strategies, histopathologic analyses of the resected tissue, and outcome of surgical treatment. Descriptive statistics were used for quantitative and categorical variables. Student's t-test was used to compare means, and a p Dual pathology with associated unilateral HS was present in four. One patient with dual pathology had a temporolimbic electroclinical picture and had an anterior temporal lobectomy (ATL) based upon noninvasive evaluation. The other four had ictal semiology suggesting involvement of both temporolimbic and perisylvian cortex. Intracranial electroencephalography (EEG) showed concomitant seizure onset in the anterior temporal region and in the ipsilateral ULG in three of the four with dual pathology and in the ulegyric cortex in the one without HS. Resection guided by a combination of semiology, MRI, and extra and intracranial EEG led to complete seizure control in two and almost complete seizure control (Engel class II) in two other patients. The only surgical failure was an

  19. Cerebral fat embolism after bilateral total knee replacement arthroplasty -A case report-

    OpenAIRE

    Chang, Ri-Na; Kim, Jong-Hak; Lee, Heeseung; Baik, Hee-Jung; Chung, Rack Kyung; Kim, Chi Hyo; Hwang, Tae-Hu

    2010-01-01

    Fat embolism syndrome is a rare and potentially lethal complication most commonly seen in long bone fractures and intramedullary manipulation. The clinical triad of fat embolism syndrome consists of mental confusion, respiratory distress, and petechiae. This study reports a case of cerebral fat embolism syndrome following elective bilateral total knee replacement. After an uneventful anesthesia and initial recovery, the patient developed neurologic symptoms nine hours postoperatively.

  20. Cushing disease revealed by bilateral atypical central serous chorioretinopathy: case report.

    Science.gov (United States)

    Giovansili, Iama; Belange, Georeges; Affortit, Aude

    2013-01-01

    We report the case of a patient with Cushing disease revealed by bilateral central serous chorioretinopathy (CSCR). We present the clinical history, physical findings, laboratory results, and imaging studies of a 53-year-old Chinese woman with a Cushing disease revealed by bilateral CSCR. The association with CSCR and the pertinent literature are reviewed. A 53-year-old patient initially presented to the Department of Ophthalmology with a 4-week history of decreased vision in the left eye. Standard ophthalmologic examination and fluorescein angiography established the diagnosis of bilateral CSCR. Systemic clinical signs and biochemical analysis indicated hypercortisolism. Magnetic resonance imaging (MRI) of the pituitary gland showed a left-side lesion compatible with a microadenoma. The diagnosis of Adrenocorticotropic hormone (ACTH)-dependent Cushing syndrome secondary to a pituitary microadenoma was selected. Endoscopic endonasal transsphenoidal surgery was performed and the pituitary adenoma was successfully removed. The histology confirmed the presence of ACTH-immunopositive pituitary adenoma. Early postoperative morning cortisol levels indicated early remission. At 6 weeks postoperatively, the patient's morning cortisol remains undetectable, and serous retinal detachments had regressed. CSCR is an uncommon manifestation of endogenous Cushing syndrome. It can be the first presentation of hypercortisolism caused by Cushing disease. CSCR should be considered when assessing patients with Cushing syndrome complaining of visual disorders. On the other hand, it is useful in patients with an atypical form of CSCR to exclude Cushing's syndrome.

  1. “La influencia de la masonería madrileña en la política de la Segunda República Española (1931-1939”

    Directory of Open Access Journals (Sweden)

    Manuel Según-Alonso

    2014-01-01

    Full Text Available Las criticadas interconexiones entre masonería y política en Madrid (España deben abordarse desde diferentes puntos de vista, puesto que nos encontramos ante una institución compleja, estructurada en varios niveles de acción: masones, logias y Obediencias. Además, a la masonería madrileña se le ha atribuido objetivos partidistas como la lucha contra el poder de la dictadura, el clero y la monarquía; y a favor de una sociedad laica y democrática; así como un fuerte compromiso social. Hemos intentado explicar, dentro del contexto madrileño, el vínculo entre masonería y política (republicanismo que hace que se cree un grupo ideológico de presión dentro de la masonería madrileña en la República Española (1931-1939.

  2. First report of bilateral pheochromocytoma in the clinical spectrum of HIF2A-related polycythemia-paraganglioma syndrome.

    Science.gov (United States)

    Taïeb, David; Yang, Chunzhang; Delenne, Blandine; Zhuang, Zhengping; Barlier, Anne; Sebag, Fréderic; Pacak, Karel

    2013-05-01

    Molecular genetic research has so far resulted in the identification of 10 well-characterized susceptibility genes for hereditary pheochromocytoma (PHEO) or paraganglioma (PGL). Recently, a new syndrome characterized by multiple PGLs and somatostatinomas associated with congenital polycythemia due to somatic mutations in HIF2A has been reported. The aim of the study was to define the genetic defect in a new case of bilateral PHEO and multiple PGLs associated with congenital polycythemia. A female patient presented with neonatal polycythemia (treated by phlebotomies, 1 session approximately every 4 mo), mildly enlarged cerebral ventricles, and bilateral PHEO and multiple PGLs. There was no family history of any neuroendocrine tumor or polycythemia. Surgical removal of the tumors only temporarily normalized plasma erythropoietin (Epo) levels and discontinued phlebotomies. No germline mutations were initially detected in the SDHB, SDHC, SDHD, VHL, and PHD2 genes, known to be associated with polycythemia. The PHEOs presented with a typical noradrenergic biochemical phenotype. A heterozygous missense mutation (c.1589C>T) was identified in exon 12 of HIF2A, resulting in an alanine 530 substitution in the HIF-2α protein with valine (A530V). This somatic mutation was detected in the tissue from 1 PHEO and 1 PGL, with no HIF2A germline mutation found. This mutation led to stabilization of HIF-2α and hence a gain-of-function phenotype, as in previously published studies. This case represents the first association of a somatic HIF2A gain-of-function mutation with PHEO and congenital polycythemia, and it alerts physicians to perform proper genetic screening in patients presenting with multiple norepinephrine-producing PHEOs and polycythemia. This report also extends the previous findings of a new syndrome of only multiple PGLs, somatostatinomas, and polycythemia to multiple PHEOs.

  3. “Vías de penetración de la masonería en el Caribe”

    Directory of Open Access Journals (Sweden)

    José Antonio Ferrer Benimeli

    2009-01-01

    Full Text Available La introducción y desarrollo de la Fr ancmasonería en América fue un claro refl ejo y transposición de la situación de la masonería en la Europa del siglo XVIII y comienzo s del XIX. Mientras en toda la América hispana la masonería estuvo prohibida y perseguida tanto por los Tribunales de la Inquisición como por los edictos de los reyes, las antiguas colonias inglesas siguieron la tradición y el ejemplo de Gran Bretaña de forma tal que la institución masónica a la que pertenecían importantes hombres de la política y el ejército logró una rápida implantación con la creación de Grandes Logias en las trece colonias entre 1 778 y 1794. Por otro lado a medida que los colonos avanzaban hacia el oeste los masones que se instalaban en las nuevas zonas solicitaban autorización para crear logias, germen de futuras Grandes Logias en los esta dos que se iban formando. Por ende el objetivo de este artículo está en explicar di cho proceso de expansión masónica en el Caribe.

  4. An evaluation of surgical outcome of bilateral cleft lip surgery using a modified Millard′s (Fork Flap technique

    Directory of Open Access Journals (Sweden)

    W L Adeyemo

    2013-01-01

    Full Text Available Background: The central third of the face is distorted by the bilateral cleft of the lip and palate and restoring the normal facial form is one of the primary goals for the reconstructive surgeons. The history of bilateral cleft lip repair has evolved from discarding the premaxilla and prolabium and approximating the lateral lip elements to a definitive lip and primary cleft nasal repair utilising the underlying musculature. The aim of this study was to review surgical outcome of bilateral cleft lip surgery (BCLS done at the Lagos University Teaching Hospital. Materials and Methods: A review of all cases of BCLS done between January 2007 and December 2012 at the Lagos University Teaching Hospital was done. Data analysis included age and sex of patients, type of cleft deformity and type of surgery (primary or secondary and whether the cleft deformity was syndromic and non-syndromic. Techniques of repair, surgical outcome and complications were also recorded. Results: A total of 39 cases of BCLS involving 21 males and 18 females were done during the period. This constituted 10% (39/390 of all cases of cleft surgery done during the period. There were 5 syndromic and 34 non-syndromic cases. Age of patients at time of surgery ranged between 3 months and 32 years. There were 24 bilateral cleft lip and palate deformities and 15 bilateral cleft lip deformities. Thirty-one of the cases were primary surgery, while 8 were secondary (revision surgery. The most common surgical technique employed was modified Fork flap (Millard technique, which was employed in 37 (95% cases. Conclusion: Bilateral cleft lip deformity is a common cleft deformity seen in clinical practice, surgical repair of which can be a challenge to an experienced surgeon. A modified Fork flap technique for repair of bilateral cleft lip is a reliable and versatile technique associated with excellent surgical outcome.

  5. Characterization of Mason Gully (H5): The second recovered fall from the Desert Fireball Network

    Czech Academy of Sciences Publication Activity Database

    Dyl, K.A.; Benedix, G.K.; Bland, P.A.; Friedrich, J.M.; Spurný, Pavel; Towner, M.C.; O'Keefe, M.C.; Howard, K.; Greenwood, R.C.; Macke, R.; Britt, D.; Halfpenny, A.; Thostenson, J.O.; Rudolph, R.A.; Rivers, M.; Bevan, A.W.R.

    2016-01-01

    Roč. 15, č. 3 (2016), s. 596-613 ISSN 1086-9379 Institutional support: RVO:67985815 Keywords : Mason Gully * analysis * geochemical data Subject RIV: BN - Astronomy, Celestial Mechanics, Astrophysics Impact factor: 2.391, year: 2016

  6. Clinical outcomes and repair integrity after arthroscopic full-thickness rotator cuff repair: suture-bridge versus double-row modified Mason-Allen technique.

    Science.gov (United States)

    Lee, Kwang Won; Yang, Dae Suk; Lee, Gyu Sang; Ma, Chang Hyun; Choy, Won Sik

    2018-05-23

    This retrospective study compared the clinical and radiologic outcomes of patients who underwent arthroscopic rotator cuff repairs by the suture-bridge and double-row modified Mason-Allen techniques. From January 2012 to May 2013, 76 consecutive cases of full-thickness rotator cuff tear, 1 to 4 cm in the sagittal plane, for which arthroscopic rotator cuff repair was performed, were included. The suture-bridge technique was used in 37 consecutive shoulders; and the double-row modified Mason-Allen technique, in 39 consecutive shoulders. Clinical outcomes at a minimum of 2 years (mean, 35.7 months) were evaluated postoperatively using the visual analog scale; University of California, Los Angeles Shoulder Scale; American Shoulder and Elbow Surgeons Subjective Shoulder Scale; and Constant score. Postoperative cuff integrity was evaluated at a mean of 17.7 months by magnetic resonance imaging. At the final follow-up, the clinical outcomes improved in both groups (all P  .05). The retear rate was 18.9% in the shoulders subjected to suture-bridge repair and 12.8% in the double-row modified Mason-Allen group; the difference was not significant (P = .361). Despite the presence of fewer suture anchors, the patients who underwent double-row modified Mason-Allen repair had comparable shoulder functional outcomes and a comparable retear rate with those who underwent suture-bridge repair. Therefore, the double-row modified Mason-Allen repair technique can be considered an effective treatment for patients with medium- to large-sized full-thickness rotator cuff tears. Copyright © 2018 Journal of Shoulder and Elbow Surgery Board of Trustees. Published by Elsevier Inc. All rights reserved.

  7. Bilateral uveitis and Usher syndrome: a case report

    OpenAIRE

    Benson, Matthew D; MacDonald, Ian M

    2015-01-01

    Introduction Usher syndrome is a genetically heterogeneous condition and represents the most common cause of inherited combined vision and hearing loss. Deficits manifest as sensorineural hearing loss that typically develops at a young age and retinitis pigmentosa that can lead to peripheral vision loss and night blindness. As a result, this syndrome can have a significant impact on a patient?s quality of life. Previous studies have described an association between Usher syndrome and Fuchs? h...

  8. “Elementos para la discusión sobre masonería, política y secularización en la Centroamérica del siglo XIX”

    Directory of Open Access Journals (Sweden)

    Roberto Armando Valdés Valle

    2010-01-01

    Full Text Available Este trabajo ofrece un marco de interpretación sobre ensayo la politización de la Masonería, basado en lo establecido en algunas de las Constituciones masónicas del siglo XIX, donde se precisa cuál era la naturaleza, fines y objetivos de la Masonería centroamericana. Este análisis ayuda a entender el por qué del debate periodístico en torno al papel político que jugaron los masones centroamericanos durante el siglo XIX.

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

    African Journals Online (AJOL)

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

  10. Grebe syndrome with bilateral fibular hemimelia and thumb duplication

    International Nuclear Information System (INIS)

    Rao, Narasimha; Joseph, Benjamin

    2002-01-01

    Grebe syndrome is a rare recessively inherited form of short-limbed dwarfism. Among the skeletal anomalies reported in the past, complete fibular hemimelia and thumb duplication have not been documented. We report a case of Grebe syndrome with these associated anomalies and review the various skeletal anomalies reported in the literature related to this syndrome. Awareness of the skeletal anomalies that can occur in this syndrome should enable an accurate diagnosis. (orig.)

  11. Grebe syndrome with bilateral fibular hemimelia and thumb duplication

    Energy Technology Data Exchange (ETDEWEB)

    Rao, Narasimha; Joseph, Benjamin [Department of Orthopaedics, Kasturba Medical College, Karnataka State (India)

    2002-03-01

    Grebe syndrome is a rare recessively inherited form of short-limbed dwarfism. Among the skeletal anomalies reported in the past, complete fibular hemimelia and thumb duplication have not been documented. We report a case of Grebe syndrome with these associated anomalies and review the various skeletal anomalies reported in the literature related to this syndrome. Awareness of the skeletal anomalies that can occur in this syndrome should enable an accurate diagnosis. (orig.)

  12. A case with Parkinsonism secondary to bilateral subdural hematoma

    Directory of Open Access Journals (Sweden)

    Adalet Arıkanoğlu

    2011-03-01

    Full Text Available Subdural hematoma is a rare cause of secondary Parkinsonism. In this study, we presented a case of Parkinsonian syndrome caused by a bilateral subdural hematoma. The patient’s Parkinsonism completely healed following successful surgical removal of the hematomas without any anti-parkinson drug.

  13. Juvenile myelomonocytic leukemia presenting as bilateral breast masses

    Energy Technology Data Exchange (ETDEWEB)

    Edison, Michele N.; Letter, Haley P. [Florida Hospital, Department of Radiology, Orlando, FL (United States); University of Central Florida, College of Medicine, Orlando, FL (United States); O' Dell, M.C. [University of Central Florida, College of Medicine, Orlando, FL (United States); Children' s Hospital of Philadelphia, Pediatric Radiology, Philadelphia, PA (United States); Scherer, Kurt; Williams, Jennifer L. [Florida Hospital, Department of Radiology, Orlando, FL (United States); University of Central Florida, College of Medicine, Orlando, FL (United States); Florida State University, College of Medicine, Tallahassee, FL (United States)

    2017-01-15

    An 8-year-old girl presented with bilateral breast masses and was subsequently diagnosed with juvenile myelomonocytic leukemia. Juvenile myelomonocytic leukemia is a rare myelodysplastic syndrome that typically presents in boys younger than 3 years of age with splenomegaly, lymphadenopathy and skin findings. Bilateral breast masses in a child are rare and, as such, present a diagnostic dilemma due to the relative paucity of cases in the literature. We present a case of granulocytic sarcoma of the breasts in a patient with juvenile myelomonocytic leukemia. The authors hope that increased reporting and research regarding pediatric breast masses will help create awareness for such cases. (orig.)

  14. Juvenile myelomonocytic leukemia presenting as bilateral breast masses

    International Nuclear Information System (INIS)

    Edison, Michele N.; Letter, Haley P.; O'Dell, M.C.; Scherer, Kurt; Williams, Jennifer L.

    2017-01-01

    An 8-year-old girl presented with bilateral breast masses and was subsequently diagnosed with juvenile myelomonocytic leukemia. Juvenile myelomonocytic leukemia is a rare myelodysplastic syndrome that typically presents in boys younger than 3 years of age with splenomegaly, lymphadenopathy and skin findings. Bilateral breast masses in a child are rare and, as such, present a diagnostic dilemma due to the relative paucity of cases in the literature. We present a case of granulocytic sarcoma of the breasts in a patient with juvenile myelomonocytic leukemia. The authors hope that increased reporting and research regarding pediatric breast masses will help create awareness for such cases. (orig.)

  15. Bilateral Bell palsy as a presenting sign of preeclampsia.

    Science.gov (United States)

    Vogell, Alison; Boelig, Rupsa C; Skora, Joanna; Baxter, Jason K

    2014-08-01

    Bell palsy is a facial nerve neuropathy that is a rare disorder but occurs at higher frequency in pregnancy. Almost 30% of cases are associated with preeclampsia or gestational hypertension. Bilateral Bell palsy occurs in only 0.3%-2.0% of cases of facial paralysis, has a poorer prognosis for recovery, and may be associated with a systemic disorder. We describe a case of a 24-year-old primigravid woman with a twin gestation at 35 weeks diagnosed initially with bilateral facial palsy and subsequently with preeclampsia. She then developed partial hemolysis, elevated liver enzymes, and low platelet count syndrome, prompting the diagnosis of severe preeclampsia, and was delivered. Bilateral facial palsy is a rare entity in pregnancy that may be the first sign of preeclampsia and suggests increased severity of disease, warranting close monitoring.

  16. “Origen, miembros y primeras acciones de la masonería en El Salvador (1871-1872”

    Directory of Open Access Journals (Sweden)

    Roberto Armando Valdés Valle

    2009-01-01

    Full Text Available En este trabajo se establecen los orígenes oficiales de la Masonería en El Sa lvador durante el último tercio del siglo XIX; se identifica quiénes eran sus miembros, que roles o papeles desempeñaban en la sociedad salvadoreña, cuál fue el contexto socio-histórico y polític o en el que se fundó el primer Taller masónico en el país, y cuál fue la reacción del clero y los sectores de l país más identificados con el ultramontanismo a la fundación de esta primera Logia. Para dar respuesta a esta cuestiones, se hace uso de fuentes tanto eclesiales como gubernamentales y de historia de la masonería sa lvadoreña y centroamericana que al cruzarse revelan y confirman la gran participación que tuvieron los masones salvadoreños en los turbulentos años de 1871 y 1872, cuando inicia el proceso de secularización del Estado salvadoreño, proceso que curiosamente coincidió con la fundación de la Logia Progreso N° 5.

  17. Bilateral adrenal masses: a single-centre experience

    Directory of Open Access Journals (Sweden)

    Nilesh Lomte

    2016-05-01

    Full Text Available Background Bilateral adrenal masses may have aetiologies like hyperplasia and infiltrative lesions, besides tumours. Hyperplastic and infiltrative lesions may have coexisting hypocortisolism. Bilateral tumours are likely to have hereditary/syndromic associations. The data on clinical profile of bilateral adrenal masses are limited. Aims To analyse clinical, biochemical and radiological features, and management outcomes in patients with bilateral adrenal masses. Methods Retrospective analysis of 70 patients with bilateral adrenal masses presenting to a single tertiary care endocrine centre from western India (2002–2015. Results The most common aetiology was pheochromocytoma (40%, followed by tuberculosis (27.1%, primary adrenal lymphoma (PAL (10%, metastases (5.7%, non-functioning adenomas (4.3%, primary bilateral macronodular adrenal hyperplasia (4.3%, and others (8.6%. Age at presentation was less in patients with pheochromocytoma (33 years and tuberculosis (41 years compared with PAL (48 years and metastases (61 years (P<0.001. The presenting symptoms for pheochromocytoma were hyperadrenergic spells (54% and abdominal pain (29%, whereas tuberculosis presented with adrenal insufficiency (AI (95%. The presenting symptoms for PAL were AI (57% and abdominal pain (43%, whereas all cases of metastasis had abdominal pain. Mean size of adrenal masses was the largest in lymphoma (5.5cm followed by pheochromocytoma (4.8cm, metastasis (4cm and tuberculosis (2.1cm (P<0.001. Biochemically, most patients with pheochromocytoma (92.8% had catecholamine excess. Hypocortisolism was common in tuberculosis (100% and PAL (71.4% and absent with metastases (P<0.001. Conclusion In evaluation of bilateral adrenal masses, age at presentation, presenting symptoms, lesion size, and biochemical features are helpful in delineating varied underlying aetiologies.

  18. Bilateral adrenal masses: a single-centre experience

    Science.gov (United States)

    Bandgar, Tushar; Khare, Shruti; Jadhav, Swati; Lila, Anurag; Goroshi, Manjunath; Kasaliwal, Rajeev; Khadilkar, Kranti; Shah, Nalini S

    2016-01-01

    Background Bilateral adrenal masses may have aetiologies like hyperplasia and infiltrative lesions, besides tumours. Hyperplastic and infiltrative lesions may have coexisting hypocortisolism. Bilateral tumours are likely to have hereditary/syndromic associations. The data on clinical profile of bilateral adrenal masses are limited. Aims To analyse clinical, biochemical and radiological features, and management outcomes in patients with bilateral adrenal masses. Methods Retrospective analysis of 70 patients with bilateral adrenal masses presenting to a single tertiary care endocrine centre from western India (2002–2015). Results The most common aetiology was pheochromocytoma (40%), followed by tuberculosis (27.1%), primary adrenal lymphoma (PAL) (10%), metastases (5.7%), non-functioning adenomas (4.3%), primary bilateral macronodular adrenal hyperplasia (4.3%), and others (8.6%). Age at presentation was less in patients with pheochromocytoma (33 years) and tuberculosis (41 years) compared with PAL (48 years) and metastases (61 years) (P<0.001). The presenting symptoms for pheochromocytoma were hyperadrenergic spells (54%) and abdominal pain (29%), whereas tuberculosis presented with adrenal insufficiency (AI) (95%). The presenting symptoms for PAL were AI (57%) and abdominal pain (43%), whereas all cases of metastasis had abdominal pain. Mean size of adrenal masses was the largest in lymphoma (5.5cm) followed by pheochromocytoma (4.8cm), metastasis (4cm) and tuberculosis (2.1cm) (P<0.001). Biochemically, most patients with pheochromocytoma (92.8%) had catecholamine excess. Hypocortisolism was common in tuberculosis (100%) and PAL (71.4%) and absent with metastases (P<0.001). Conclusion In evaluation of bilateral adrenal masses, age at presentation, presenting symptoms, lesion size, and biochemical features are helpful in delineating varied underlying aetiologies. PMID:27037294

  19. Duane retraction syndrome type 1 with Usher syndrome type 2: an unreported association.

    Science.gov (United States)

    Khurana, Bhawna Piplani; Khurana, Aruj Kumar; Grover, Sumit

    2015-05-07

    Duane retraction syndrome is characterized by globe retraction and palpebral fissure narrowing on adduction, with restriction of abduction, adduction, or both. Usher syndrome type 2 consists of congenital bilateral sensorineural hearing loss and retinitis pigmentosa. The authors present a case with a yet unreported association between Duane retraction syndrome type 1 and Usher syndrome type 2. Copyright 2015, SLACK Incorporated.

  20. Modelos y culturas políticas en la masonería española contemporánea

    Directory of Open Access Journals (Sweden)

    Luis P. MARTÍN

    2010-02-01

    Full Text Available RESUMEN: Se suele pensar que la Masonería es una sociabilidad que se presta a pocas mutaciones debido al fuerte componente cultural de sus orígenes. Esta idea es inexacta si nos atenemos a la constante permeabilidad de las logias masónicas españolas respecto a las cuestiones claves de la sociedad contemporánea. Esta cualidad, más el hecho de que una de las finalidades de la Masonería sea la de contribuir a edificar un mundo mejor para los seres humanos, la ha llevado a convertirse en un receptáculo de ideas políticas y las logias a ser un ágora de discusión. Una circulación de ideas que se completó por una adecuación de prácticas políticas. Nuestro estudio parte de la base de que estas culturas políticas son el fruto de un proceso de modelización que van desde la recepción a la elaboración y la difusión. Así nos percatamos que si la cultura política dominante entre los masones es la republicana, su interpretación es múltiple y su prácticas también lo son. A través de un análisis de lo que supone estas culturas de la República, del paso del liberalismo a la democracia radical y extendiéndonos hasta el humanismo político, constatamos, la movilidad de la Masonería, su integración en redes políticas y la difusión de principios que serán consagrados con el triunfo republicano en 1931. ABSTRACT: It is often thought that the Masonry is a sociability which lends itself to few mutations due to the strong cultural component of its origin. This idea is inaccurate if we hold to the constant permeability of Spanish Masonic Lodges in relation to the key questions of contemporary society. This quality, together with the fact that one of the Masonry’s aims is to contribute to build a better world for human beings, has led it to become a recipient of political ideas and has also turned the lodges into agoras for discussion. A movement of ideas which was completed by the adaptation of political practice. Our research starts

  1. An Overlap Syndrome of Pigment Dispersion and Pigmentary Glaucoma accompanied by Marfan Syndrome: Case Report with Literature Review.

    Science.gov (United States)

    Chakravarti, Tutul; Spaeth, George

    2013-01-01

    'Overlap syndrome' describes the situation in which two or more 'independent' conditions are present, either one of which could cause a particular finding. This current presentation reports a case with bilateral pigment dispersion syndrome (PDS), advanced pigmentary glaucoma (PG), and the Marfan syndrome, with bilateral subluxation of the lenses, and large short-term and long-term fluctuations of intraocular pressure. It is interesting to consider whether the associated advanced glaucomatous nerve damage could be a manifestation of just the PDS, just the Marfan syndrome, or rather a combination of these two overlapping independent conditions. How to cite this article: Chakravarti T, George S. An Overlap Syndrome of Pigment Dispersion and Pigmentary Glaucoma accompanied by Marfan Syndrome: Case Report with Literature Review. J Current Glau Prac 2013;7(2):91-95.

  2. 75 FR 23666 - Huron-Manistee National Forests, White Pines Wind Farm Project, Mason County, MI

    Science.gov (United States)

    2010-05-04

    ... DEPARTMENT OF AGRICULTURE Forest Service Huron-Manistee National Forests, White Pines Wind Farm Project, Mason County, MI AGENCY: Forest Service, USDA. ACTION: Cancellation Notice of notice of intent to prepare an environmental impact statement. SUMMARY: The Forest Service proposed to prepare an...

  3. Revesz syndrome

    Directory of Open Access Journals (Sweden)

    Dayane Cristine Issaho

    2015-04-01

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

  4. The Mason Gully Meteorite Fall in SW Australia: Fireball Trajectory and Orbit from Photographic Records

    Czech Academy of Sciences Publication Activity Database

    Spurný, Pavel; Bland, P.A.; Shrbený, Lukáš; Towner, M.C.; Borovička, Jiří; Bevan, A.W.R.; Vaughan, D.

    2011-01-01

    Roč. 46, Supplement (2011), A220-A220 ISSN 1086-9379. [Annual Meeting of the Meteoritical Society /74./. 08.08.2011-12.08.2011, London] Institutional research plan: CEZ:AV0Z10030501 Keywords : Mason Gully Subject RIV: BN - Astronomy, Celestial Mechanics, Astrophysics

  5. “La influencia de la masonería madrileña en la política de la Segunda República Española (1931-1939)”

    OpenAIRE

    Manuel Según-Alonso

    2014-01-01

    Las criticadas interconexiones entre masonería y política en Madrid (España) deben abordarse desde diferentes puntos de vista, puesto que nos encontramos ante una institución compleja, estructurada en varios niveles de acción: masones, logias y Obediencias. Además, a la masonería madrileña se le ha atribuido objetivos partidistas como la lucha contra el poder de la dictadura, el clero y la monarquía; y a favor de una sociedad laica y democrática; así como un fuerte compromiso social. Hemos in...

  6. Letter to the Editor: Backbone resonance assignment of protease from Mason-Pfizer monkey virus

    Czech Academy of Sciences Publication Activity Database

    Veverka, V.; Bauerová, Helena; Zábranský, Aleš; Pichová, Iva; Hrabal, R.

    2001-01-01

    Roč. 20, - (2001), s. 291-292 ISSN 0925-2738 R&D Projects: GA ČR GA203/00/1241 Grant - others:Fogarty International Award(US) TW00050 Institutional research plan: CEZ:AV0Z4055905 Keywords : Mason-Pfizer monkey virus * retroviral protease Subject RIV: CE - Biochemistry Impact factor: 4.636, year: 2001

  7. Bilateral orbital bone infarction in sickle-cell disease.

    Science.gov (United States)

    Ghafouri, Roya H; Lee, Irene; Freitag, Suzanne K; Pira, Tony N

    2011-01-01

    This is a case of a 2-year-old boy with sickle cell disease who presented with bilateral eyelid swelling, limited extraocular motility, and lateral subperiosteal fluid collection associated with bilateral lateral orbital wall infarctions on MRI. The patient was managed medically with intravenous fluids, analgesics, broad-spectrum antibiotics, systemic steroids, and clinically improved. Patients with sickle cell disease are susceptible to infarction of the orbital bones during vaso-occlusive crises. Orbital wall infarction can lead to acute proptosis and restricted extraocular motility. Orbital wall infarction should be considered in sickle cell patients with orbital diseases so that appropriate treatment can be instituted promptly to prevent the serious sequelae of orbital compression syndrome.

  8. Masones salvadoreños e instrucción intelectual femenina: El Salvador, 1875-1887”

    Directory of Open Access Journals (Sweden)

    Olga Carolina Vásquez Monzón

    2013-01-01

    Full Text Available Este trabajo analiza la influencia política que tuvieron masones como Baltasar Estupinián, Rafael Reyes, RafaelZaldívar, Antonio J. Castro, Manuel Delgado y Rafael Meza en la promoción de la instrucción intelectual paralas mujeres en El Salvador, durante el último tercio del siglo XIX. A través de la revisión de impresos de laépoca, el estudio recoge discursos de opinión, decretos, reglamentos y noticias que vinculan a estos masones conactividades de fomento a la educación femenina, lacreación de institutos de enseñanza para mujeres, laampliación del plan de estudios, el otorgamiento debecas o la exoneración de pagos para aquellas quequisierancontinuar sus estudios secundarios y de educación superior.

  9. PRKAR1A-negative familial Cushing's syndrome: two case reports.

    Science.gov (United States)

    Lim, Lee Ling; Kitan, Normayah; Paramasivam, Sharmila Sunita; Ratnasingam, Jeyakantha; Ibrahim, Luqman; Chan, Siew Pheng; Tan, Alexander Tong Boon; Vethakkan, Shireene Ratna

    2015-12-01

    Determining the etiology of Cushing's syndrome is very challenging to endocrinologists, with most of the difficulty arising from subtype differentiation of adrenocorticotropic hormone-dependent Cushing's syndrome. We present the pitfalls of evaluating a rare cause of adrenocorticotropic hormone-independent Cushing's syndrome in the transition period between adolescence and adulthood. A sibling pair with familial isolated primary pigmented nodular adrenocortical disease is described. The index case, a 20-year-old Chinese woman, presented with premenopausal osteoporosis with T12 compression fracture and young hypertension. Biochemical analysis confirmed adrenocorticotropic hormone-independent Cushing's syndrome (elevated 0800 h plasma cortisol 808 nmol/L with suppressed adrenocorticotropic hormone level Cushing's syndrome at age 18 years, with typical cushingoid habitus, but no osteoporosis or hypertension. His adrenal computed tomographic scans showed micronodularities over bilateral adrenal glands. He was successfully treated with bilateral adrenalectomy. Screening for Carney's complex and PRKAR1A gene mutation was negative. Signs and symptoms of Cushing's syndrome resolved after bilateral adrenalectomy for both patients. They were placed on lifelong glucocorticoid and mineralocorticoid replacement therapy and long-term surveillance for Carney's complex. The cases of these two patients illustrate the difficulties involved in diagnosing primary pigmented nodular adrenocortical disease, a variant of adrenocorticotropic hormone-independent Cushing's syndrome that is managed with bilateral adrenalectomy. A high index of suspicion for this disease is needed, especially in adolescents with adrenocorticotropic hormone-independent Cushing's syndrome who have a significant family history, features of Carney's complex, and no resolution of Cushing's syndrome after unilateral adrenalectomy. Patients with primary pigmented nodular adrenocortical disease can either have

  10. Liberales, protestantes y masones, modernidad y tolerancia religiosa. Perú, siglo XIX. [Reseña

    OpenAIRE

    Cuesta-Alonso, M.R. (Marcelino R.)

    1999-01-01

    Reseña de: Fernando ARMAS ASÍN, Liberales, protestantes y masones, modernidad y tolerancia religiosa. Perú, siglo XIX, Centro de Estudios Regionales Andinos «Bartolomé de las Casas» - Pontificia Universidad Católica del Perú, Cusco (Perú) 1998, 298 pp.

  11. Retinal Vascular Tortuosity in a Patient with Weill-Marchesani Syndrome

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    Kevin Gallagher

    2011-01-01

    Full Text Available Weill-Marchesani syndrome (WMS is a rare connective tissue disorder with characteristic phenotypic skeletal and ocular manifestations. A 28-year-old myopic female presented with an 8-month history of bilateral blurred vision. On examination, she was noted to be of short stature with brachydactyly. On ocular examination, she was found to be spherophakic with bilateral inferiorly subluxated lenses. Serum and urine homocysteine were normal and a syphilis screen was negative. A diagnosis of Weill-Marchesani syndrome was made. Fundoscopy revealed bilateral tortuous retinal vessels. We report the first illustrated case of retinal vascular tortuosity as an ocular manifestation of Weill-Marchesani syndrome.

  12. Confabulations after Bilateral Consecutive Strokes of the Lenticulostriate Arteries

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    Antonio Carota

    2012-03-01

    Full Text Available We describe the case of a 75-year-old woman who manifested persistent confabulations after two consecutive strokes encompassing the area of the lenticulostriate arteries territory on both hemispheres. Findings reported on this rare clinical syndrome suggest that fantastic confabulations and delusional thoughts may arise after bilateral damage of subcortical nonthalamic structures.

  13. Roberts-SC syndrome, a rare syndrome and cleft palate repair

    Directory of Open Access Journals (Sweden)

    Murthy Jyotsna

    2008-01-01

    Full Text Available Roberts SC syndrome is a rare syndrome with only 17 previously recognized patients reported in medical literature. The syndrome is characterized by multiple malformations, particularly, symmetrical limb reduction, craniofacial anomalies such as bilateral cleft lip and palate, micrognathia, and severe growth and mental retardation. Our patient, a young child of five years having Roberts-SC, was successfully operated for cleft palate under general anesthesia. The main features of the syndrome and the technical problems of anesthesia and surgery are discussed in this report.

  14. Characterization of Mason Gully (H5): The second recovered fall from the Desert Fireball Network

    Science.gov (United States)

    Dyl, Kathryn A.; Benedix, Gretchen K.; Bland, Phil A.; Friedrich, Jon M.; Spurný, Pavel; Towner, Martin C.; O'Keefe, Mary Claire; Howard, Kieren; Greenwood, Richard; Macke, Robert J.; Britt, Daniel T.; Halfpenny, Angela; Thostenson, James O.; Rudolph, Rebecca A.; Rivers, Mark L.; Bevan, Alex W. R.

    2016-03-01

    Mason Gully, the second meteorite recovered using the Desert Fireball Network (DFN), is characterized using petrography, mineralogy, oxygen isotopes, bulk chemistry, and physical properties. Geochemical data are consistent with its classification as an H5 ordinary chondrite. Several properties distinguish it from most other H chondrites. Its 10.7% porosity is predominantly macroscopic, present as intergranular void spaces rather than microscopic cracks. Modal mineralogy (determined via PS-XRD, element mapping via energy dispersive spectroscopy [EDS], and X-ray tomography [for sulfide, metal, and porosity volume fractions]) consistently gives an unusually low olivine/orthopyroxene ratio (0.67-0.76 for Mason Gully versus ~1.3 for typical H5 ordinary chondrites). Widespread "silicate darkening" is observed. In addition, it contains a bright green crystalline object at the surface of the recovered stone (diameter ≈ 1.5 mm), which has a tridymite core with minor α-quartz and a rim of both low- and high-Ca pyroxene. The mineralogy allows the calculation of the temperatures and ƒ(O2) characterizing thermal metamorphism on the parent body using both the two-pyroxene and the olivine-chromite geo-oxybarometers. These indicate that MG experienced a peak metamorphic temperature of ~900 °C and had a similar ƒ(O2) to Kernouvé (H6) that was buffered by the reaction between olivine, metal, and pyroxene. There is no evidence for shock, consistent with the observed porosity structure. Thus, while Mason Gully has some unique properties, its geochemistry indicates a similar thermal evolution to other H chondrites. The presence of tridymite, while rare, is seen in other OCs and likely exogenous; however, the green object itself may result from metamorphism.

  15. Prune belly syndrome in an Egyptian infant with Down syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Metwalley Kotb A

    2008-10-01

    Full Text Available Abstract Introduction Prune belly syndrome is a rare congenital anomaly of uncertain aetiology almost exclusive to males. The association between prune belly syndrome and Down syndrome is very rare. Case presentation A 4-month-old Egyptian boy was admitted to our institute for management of acute bronchiolitis. He was born at full term by normal vaginal delivery. His mother, a 42-year-Egyptian villager with six other children, had no antenatal or prenatal care. On examination, the boy was found to be hypotonic. In addition to features of Down syndrome, karyotyping confirmed the diagnosis of trisomy 21. Ultrasound examination of the abdomen showed bilateral gross hydronephrosis with megaureter. Micturating cystourethrography showed grade V vesicoureteric reflux bilaterally with no urethral obstruction. Serum creatinine concentration was 90 μmol/litre, serum sodium was 132 mmol/litre and serum potassium was 5.9 mmol/litre. Conclusion We report an Egyptian infant with Down syndrome and prune belly syndrome. The incidence of this association is unknown. Routine antenatal ultrasonography will help in discovering renal anomalies which can be followed postnatally. Postnatal detection of prune belly syndrome necessitates full radiological investigation to detect any renal anomalies. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course.

  16. Prune belly syndrome in an Egyptian infant with Down syndrome: a case report.

    Science.gov (United States)

    Metwalley, Kotb A; Farghalley, Hekma S; Abd-Elsayed, Alaa A

    2008-10-02

    Prune belly syndrome is a rare congenital anomaly of uncertain aetiology almost exclusive to males. The association between prune belly syndrome and Down syndrome is very rare. A 4-month-old Egyptian boy was admitted to our institute for management of acute bronchiolitis. He was born at full term by normal vaginal delivery. His mother, a 42-year-Egyptian villager with six other children, had no antenatal or prenatal care. On examination, the boy was found to be hypotonic. In addition to features of Down syndrome, karyotyping confirmed the diagnosis of trisomy 21. Ultrasound examination of the abdomen showed bilateral gross hydronephrosis with megaureter. Micturating cystourethrography showed grade V vesicoureteric reflux bilaterally with no urethral obstruction. Serum creatinine concentration was 90 mumol/litre, serum sodium was 132 mmol/litre and serum potassium was 5.9 mmol/litre. We report an Egyptian infant with Down syndrome and prune belly syndrome. The incidence of this association is unknown. Routine antenatal ultrasonography will help in discovering renal anomalies which can be followed postnatally. Postnatal detection of prune belly syndrome necessitates full radiological investigation to detect any renal anomalies. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course.

  17. "Auge y Caída de la Masonería en México en el Siglo XIX. La Exclusión de la Mujer bajo la mirada del Discurso Masónico de Laureana Wright González"

    Directory of Open Access Journals (Sweden)

    Carlos Francisco MartÌnez Moreno

    2012-01-01

    Full Text Available La masonerÌa femenina en MÈxico fue efÌmera en el siglo XIX, surgiÛ con el apoyo de masones varones comprometidos con la educaciÛn de la mujer y su emancipaciÛn del dogma catÛlico, que no lograron emanciparse de los dogmas masÛnicos incoherentes con el progreso que decÌan defender; que por presiones de la masonerÌa internacional optaron por el conservadurismo de sus normas antes que perder el reconocimiento de la masonerÌa regular, con lo que excluyeron a la mujer de la masonerÌa.

  18. Bilateral paracoccidioidomycotic iliopsoas abscess associated with ileo-colonic lesion

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    Helena Duani

    2012-10-01

    Full Text Available This case report shows the clinical development of a patient with systemic paracoccidioidomycosis presenting with lymphatic-intestinalmanifestation. The patient initially had a substantial clinical improvement but had a recrudescence after six months of sulfamethoxazoletrimethoprim oral treatment, with the emergence of feverish syndrome, lumbar pain, and intermittent claudication, characterizing a bilateral iliopsoas muscle abscess, necessitating clinicosurgical therapeutics.

  19. A Reply on Behalf of the Relativist to Mark Mason's Justification of Universal Ethical Principles

    Science.gov (United States)

    MacKenzie, Jim

    2007-01-01

    Mark Mason, in his "A Justification, After the Postmodern Turn, of Universal Ethical Principles and Educational Ideals" Educational Philosophy and Theory, 37 (2005), attempts to justify transcultural multiculturalism. In this paper I argue that he fails to refute moral relativism, and that multiculturalism as he interprets it is not morally…

  20. Goldenhar Syndrome in Association with Duane Syndrome

    Directory of Open Access Journals (Sweden)

    U D Shrestha

    2012-03-01

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

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

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    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.

  2. Bilateral acute iris transillumination (BAIT initially misdiagnosed as acute iridocyclitis

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    Saban Gonul

    2015-04-01

    Full Text Available Bilateral acute iris transillumination (BAIT is a relatively new clinical entity characterized by bilateral acute loss of iris pigment epithelium, iris transillumination, pigment dispersion in the anterior chamber, and sphincter paralysis. We report the case of a 30-year-old male who was initially diagnosed with acute iridocyclitis in a different clinic and treated with topical and systemic corticosteroids. He was referred to our clinic to seek another opinion because his symptoms did not improve. An ocular examination revealed bilateral pigment dispersion into the anterior chamber, diffuse iris transillumination, pigment dusting on the anterior lens capsule, atonic and distorted pupils, and increased intraocular pressure, suggesting a diagnosis of BAIT rather than iridocyclitis. Clinicians should be aware of the differential diagnosis of syndromes associated with pigment dispersion from iridocyclitis to avoid aggressive anti-inflammatory therapy and detailed investigation for uveitis.

  3. Swiss-German Music Books in the Mason-McConathy Collection: Accounts from Europe to the United States.

    Science.gov (United States)

    Howe, Sondra Wieland

    2000-01-01

    Provides an examination of the Swiss-German music books in the Luther Whiting Mason-Osbourne McConathy Collection. Based on research undertaken to learn about music education in nineteenth century Switzerland and its influence on U.S. music education. (CMK)

  4. Interpretation of Mason's equation in terms of measurable electrochemical-etching parameters governing the dielectric breakdown phenomenon

    International Nuclear Information System (INIS)

    Al-Najjar, S.A.R.; Durrani, S.A.

    1986-01-01

    A new interpretation of Mason's equation, as applicable to the electrochemical etching (ECE) of tracks in polymers, is presented in terms of physically meaningful track-etching parameters. The values of these parameters have been experimentally obtained by irradiating CR-39 foils with heavy ions ( 238 U and 129 Xe) and α-particles of various energies, and applying chemical pre-etching (CPE), followed by ECE in steps, with increasing electric field until the 'treeing' breakdown is initiated. A value of 1.19 MV cm -1 is obtained for the intrinsic electrical breakdown stress of CR-39. It is found that the track radius r used in Mason's equation is related to the radius rsub(Θ) of a sphere, inscribed within the etch cone, whose lowest point is at a fixed distance lsub(o) above the cone tip, with lsub(o) ≅ 1.75 μm for α-particle tracks of energies 2-5.5 MeV, such that r = 0.43 + rsub(Θ) (in μm). (author)

  5. Late onset Li-Fraumeni Syndrome with bilateral breast cancer and other malignancies: case report and review of the literature

    International Nuclear Information System (INIS)

    Kast, Karin; Krause, Mechthild; Schuler, Markus; Friedrich, Katrin; Thamm, Barbara; Bier, Andrea; Distler, Wolfgang; Krüger, Stefan

    2012-01-01

    Li-Fraumeni-Syndrome (LFS) is an autosomal-dominant, inherited tumour predisposition syndrome associated with heterozygous germline mutations in the TP53 gene. Patients with LFS are at a high risk to develop early-onset breast cancer and multiple malignancies, among which sarcomas are the most common. A high incidence of childhood tumours and close to 100% penetrance has been described. Knowledge of the genetic status of the TP53 gene in these patients is critical not only due to the increased risk of malignancies, but also because of the therapeutic implications, since a higher rate of radiation-induced secondary tumours in these patients has been observed. We report a patient with LFS harbouring heterozygous, pathogenic TP53 germline mutation, who was affected by four synchronous malignancies at the age of 40: a myxofibrosarcoma of the right upper arm, bilateral breast cancer and a periadrenal liposarcoma. Radiological treatments and a surveillance program were adjusted according to recommendations for LFS patients. Management of tumour treatment of patients with LFS is different to the general population because of their risk for secondary cancers in the radiation field. Screening procedures should take a possibly elevated risk for radiation induced cancer into account

  6. Síndrome de Wildervanck (Síndrome cérvico-óculo-acústica Wildervanck syndrome

    Directory of Open Access Journals (Sweden)

    João Luís Curvacho Capella

    2008-08-01

    Full Text Available O artigo relata o caso clínico de uma criança do sexo feminino, cinco anos de idade que apresenta a rara síndrome de Wilderwanck que consiste da síndrome de Klippel-Feil associada à síndrome de Duane e deficiência auditiva. O exame revelou alterações marcadas da coluna cervical, limitação bilateral da abdução, limitação da adução do olho direito associada à enoftalmia, diminuição da fenda palpebral, anisotropia em A, esotropia nas lateroversões e hipoacusia auditiva neurosensorial bilateral. Nossa paciente revelou a associação de síndrome de Klippel-Feil do tipo II com síndrome de Duane bilateral.This article reports a case of a female five years old child with rare syndrome of Wilderwanck wich consists in a association of KlippelFeil syndrome and Duane syndrome and auditive hypoacusia. Ocular examination reveals alterations of cervical column, bilateral abduction limitations, aduction limitation of right eye associated with enophthalmos, palpebral fissure decrease, anisotropia in A, lateroversions esotropia and bilateral neurosensorial auditive hypoacusia. Our patient reveal an association of Klippel-Feil Syndrome type II with bilateral Duane Syndrome.

  7. “Something More Than a Rifle”: Firearms in and around Thomas Pynchon’s Mason & Dixon

    Directory of Open Access Journals (Sweden)

    Umberto Rossi

    2014-03-01

    Full Text Available This article aims to carry out a multidisciplinary reading of 'Mason & Dixon' starting from the apparitions of what might only look like a "stage prop", a rifle in four more or less important moments of the novel. By applying a stereoscopic reading of the novel, which may achieve depth by means of comparing different textual objects and a wider historical context (that of the history of firearms in the 17th and 18th century, plus other works by Pynchon featuring firearms, it will be shown how literary (textual avatars of "real", "historical" objects (firearms may at the same time be verbal constructs but refer to the technical, material features of those objects, establishing multi-dimensional and complex relations between technology, science, economics (early forms of globalization, politics (colonialism and colonial wars within and outside 'Mason & Dixon', and the rest of Pynchon's oeuvre. Moreover, this reading allows us to better understand how Pynchon may use the historical documents and literature he has found while researching his novels.

  8. Pendred's syndrome

    International Nuclear Information System (INIS)

    Hashmi, M.I.; Cheema, I.A.; Qasim, G.

    2003-01-01

    This report describes Pendred's syndrome in three siblings of a consanguineous marriage, belonging to Rahimyar Khan. The children presented with deafmutism and goiters. The investigations included scintigram, perchlorate discharge test and audiometery. The perchlorate discharge was positive in index case. Bilateral sensorineural hearing defect was detected on Pure Tone Average (PTA) audiometry. Meticulous clinical and laboratory evaluation is mandatory for the detection of rare disorders like Pendred's syndrome. (author)

  9. An unusual case of bilateral anterior uveitis related to moxifloxacin: the first report in Latin America

    Directory of Open Access Journals (Sweden)

    Rangel, Carlos M.

    2017-07-01

    Full Text Available Objective: To report a case of bilateral anterior uveitis secondary to oral moxifloxacin.Methods: Case report.Results: A 54-year-old female presented bilateral anterior uveitis following a 10-day course of oral moxifloxacin. She developed a bilateral anterior uveitis associated with pigment dispersion syndrome and iris transillumination.Conclusions: Drug-induced uveitis is one of the causes of anterior uveitis. Uveitis related to fluoroquinolones is a rare entity, there are few cases reported in the literature, this is the first case reported in Latin America.

  10. [Bilateral spontaneous carotid-cavernous fistula revealing Ehler-Danlos disease].

    Science.gov (United States)

    Girardin, M; Puzenat, E; Humbert, P; Aubin, F

    2013-04-01

    A 34-year-old woman with an extensive surgical history developed two spontaneous carotido-cavernous fistula bilaterally. Skin examination revealed an acrogeric form of vascular Ehlers-Danlos syndrome and this diagnosis was confirmed by genetic analysis. Vascular Ehlers-Danlos syndrome is a rare autosomal dominant genetic disease that may be suspected on the grounds of clinical symptoms. Severe complications can occur in early life and are associated with a high mortality rate. The prognosis of vascular Ehlers-Danlos syndrome has been radically changed by the use of beta-blockers. The originality of our observation lies in the long time to onset of the initial complications in the absence of any problems during the numerous operations undergone by the patient, as well as the two childbirths. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  11. Compartment Syndrome as a Result of Systemic Capillary Leak Syndrome

    Directory of Open Access Journals (Sweden)

    Kwadwo Kyeremanteng

    2016-01-01

    Full Text Available Objective. To describe a single case of Systemic Capillary Leak Syndrome (SCLS with a rare complication of compartment syndrome. Patient. Our patient is a 57-year-old male, referred to our hospital due to polycythemia (hemoglobin (Hgb of 220 g/L, hypotension, acute renal failure, and bilateral calf pain. Measurements and Main Results. The patient required bilateral forearm, thigh, and calf fasciotomies during his ICU stay and continuous renal replacement therapy was instituted following onset of acute renal failure and oliguria. Ongoing hemodynamic (Norepinephrine and Milrinone infusion and respiratory (ventilator support in the ICU was provided until resolution of intravascular fluid extravasation. Conclusions. SCLS is an extremely rare disorder characterized by unexplained episodic capillary hyperpermeability, which causes shift of volume and protein from the intravascular space to the interstitial space. Patients present with significant hypotension, hemoconcentration, hypovolemia, and oliguria. Severe edema results from leakage of fluid and proteins into tissue. The most important part of treatment is maintaining stable hemodynamics, ruling out other causes of shock and diligent monitoring for complications. Awareness of the clinical syndrome with the rare complication of compartment syndrome may help guide investigations and diagnoses of these critically ill patients.

  12. Modified Mason's vertical banded gastroplasty. Radiological follow-up 322 patients with morbid obesity; Ruolo della radiologia nella valutazione dei pazienti affetti da obesita' patologica sottoposti a gastroplastica verticale secondo Mason modificata. Studio di 322 casi

    Energy Technology Data Exchange (ETDEWEB)

    Monteduro, F.; Cappello, I.; Pezzi, A.; Spagnol, A. [Bologna Univ., Bologna (Italy). Policlinico S. Orsola, Servizio Radiologia 2; Ghetti, A. [Bologna Univ., Bologna (Italy). Clinica Chirurgica 2

    1999-12-01

    Mason's vertical banded gastroplasty (VBG) is one of the most popular surgical techniques for the treatment of morbid obesity because it is effective and easy to perform and presents a low incidence of long-term complications. In this issue it is reported personal results in 322 Mason's VBG patients who were followed-up radiologically. 322 patients were submitted to modified Mason's VBG and underwent radiological follow-up, preferably with single contrast, to assess the shape and volume of the pouch and the presence of postoperative complications. The patients were 272 women and 50 men whose average weight was 124 kg (range: 78 to 218 kg). The women's average age was 37 years (range: 17 to 69) and the men's 36 (range: 19 to 64). It was performed a double contrast examination, adapting the dosage of effervescent powders to the gastric pouch capacity, only in particular cases where a more detailed study of pouch surface was required. The examinations were performed at 1 month and 12 months postoperatively to evaluate the pouch shape and volume, in order to correlate surgical results with weight loss. Premature or unscheduled examinations were necessary only in some cases due to suspected complications or unsatisfactory weight loss. It was observed that early postoperative complications such as pseudo pylorus edema (8 patients) and intragastric hemorrhage (1 patient), and late complications such as pseudo pylorus adherence to the gallbladder bed (1 patient), pseudo diverticular extroversion (1 patient), and axial enlargement (4 patients) of the pouch. The only two cases of staple-line dehiscence were both identified radiographically. In 305 patients with satisfactory weight loss no complications were observed with a pouch size of 45-70 mL (at 1 month) and 58-70 mL (at 12 months). Upper gastrointestinal radiological studies permit to detect both early and late postoperative complications in Mason's VBG patients. That also provide data on

  13. Two Cases of. Cushing's Syndrome tumour and bilateral hyperplasia

    African Journals Online (AJOL)

    Two patients, one with Cushing's syndrome and one with Cushing's disease, are presented. In the first case the syndrome was caused by a tumour of the right suprarenal gland which was treated by unilateral adrenalectomy, and the second case was diagnosed as hyperplasia of the left suprarenal gland, eventually leading ...

  14. "Auge y Caída de la Masonería en México en el Siglo XIX. La Exclusión de la Mujer bajo la mirada del Discurso Masónico de Laureana Wright González"

    OpenAIRE

    Carlos Francisco MartÌnez Moreno

    2012-01-01

    La masonerÌa femenina en MÈxico fue efÌmera en el siglo XIX, surgiÛ con el apoyo de masones varones comprometidos con la educaciÛn de la mujer y su emancipaciÛn del dogma catÛlico, que no lograron emanciparse de los dogmas masÛnicos incoherentes con el progreso que decÌan defender; que por presiones de la masonerÌa internacional optaron por el conservadurismo de sus normas antes que perder el reconocimiento de la masonerÌa regular, con lo que...

  15. Severe Cushing's syndrome and bilateral pulmonary nodules: beyond ectopic ACTH.

    Science.gov (United States)

    Tavares Bello, Carlos; van der Poest Clement, Emma; Feelders, Richard

    2017-01-01

    Cushing's syndrome is a rare disease that results from prolonged exposure to supraphysiological levels of glucocorticoids. Severe and rapidly progressive cases are often, but not exclusively, attributable to ectopic ACTH secretion. Extreme hypercortisolism usually has florid metabolic consequences and is associated with an increased infectious and thrombotic risk. The authors report on a case of a 51-year-old male that presented with severe Cushing's syndrome secondary to an ACTH-secreting pituitary macroadenoma, whose diagnostic workup was affected by concurrent subclinical multifocal pulmonary infectious nodules. The case is noteworthy for the atypically severe presentation of Cushing's disease, and it should remind the clinician of the possible infectious and thrombotic complications associated with Cushing's syndrome. Severe Cushing's syndrome is not always caused by ectopic ACTH secretion.Hypercortisolism is a state of immunosuppression, being associated with an increased risk for opportunistic infections.Infectious pulmonary infiltrates may lead to imaging diagnostic dilemmas when investigating a suspected ectopic ACTH secretion.Cushing's syndrome carries an increased thromboembolic risk that may even persist after successful surgical management.Antibiotic and venous thromboembolism prophylaxis should be considered in every patient with severe Cushing's syndrome.

  16. Antenatal Bartter's syndrome with sensorineural deafness

    OpenAIRE

    Bhamkar, R. P.; Gajendragadkar, A.

    2009-01-01

    Bartter's syndrome is a group of inherited, salt-losing tubulopathies presenting as metabolic alkalosis with normotensive hyperreninemia and hyperaldosteronism. We report here the first case of a neonate with bilateral, sensorineural deafness, a variant of antenatal Bartter's syndrome from an Indian community.

  17. Unusual bilateral dentigerous cysts in a nonsyndromic patient assessed by cone beam computed tomography

    Directory of Open Access Journals (Sweden)

    Thais Sumie Imada

    2014-01-01

    Full Text Available In the absence of syndromes, bilateral dentigerous cysts (DC located on the jaws are unusual. In English based language literature review, we only found eight reports of nonsyndromic bilateral dentigerous cyst associated with mandibular third molars. Therefore, we report the unusual occurrence of sizable nonsyndromic bilateral DC associated with mandibular impacted third molars in a 42-year-old Caucasian woman. The lesions were assessed by cone beam computed tomography (CBCT the right lesion showed approximately 23.64 mm and the left one, 16.57 mm diameter, both located intimately next to the mandibular canal. Bilateral surgical enucleation, related teeth excision of both third molars and plate for fixation placement on the right and bigger lesion, under general anesthesia was the final treatment choice. Clinical, radiographic and histopathological features confirmed diagnose of bilateral dentigerous cyst. Now-a-days, the patient is on 18 months radiograph follow-up with favorable osseous formation with no evidence of recurrence of the cysts.

  18. Nongranulomatous anterior uveitis in a patient with Usher syndrome.

    Science.gov (United States)

    Alzuhairy, Sultan Abdulaziz S; Alfawaz, Abdullah

    2013-10-01

    A 34-year-old female with Usher syndrome, but no family history of similar illness, presented with complaints of vision reduction, redness, and photophobia. Biomicroscopic examination showed mildly injected conjunctivae bilateral, small, round keratic precipitates; bilateral +2 cells with no flare reaction in the anterior chamber; and bilateral posterior subcapsular cataracts. No associated posterior synechiae, angle neovascularization, or iris changes were detected; normal intraocular pressures were obtained. Fundus examination demonstrated waxy pallor of both optic nerves, marked vasoconstriction in retinal vessels, and retinal bone spicule pigment formation, with a normal macula. Electroretinography confirmed the diagnosis of retinitis pigmentosa, optical coherent tomography was normal and otolaryngology consultation was conducted. To our knowledge, an association between Usher syndrome and bilateral nongranulomatous anterior uveitis has not been previously reported, and our purpose is to report this association.

  19. [Pseudomeigs syndrome in a patient with Krukenberg's tumor].

    Science.gov (United States)

    Bayod, M J Herráiz; Carlón, M Elorz; Idoate, M A

    2007-01-01

    We report the case of a fiftyone-year-old woman with a past medical history of Linfoma no Hodking and a gastric adenocarcinoma with signet ring cells. She came to our institution with a twenty month history of dysnea secondary to pleural effussion, bilateral lower extremity edema and probably had ascitis. On CT and US two bilateral pelvic masses were found and biopsied. The anatomopathological analysis showed bilateral ovarian implants from signet ring cell adenocarcinoma (Krukenberg tumor). This patient developed a PseudoMeigs syndrome consisting on malignant ovarian tumor asociated with ascitis and pleural effusion without malignant cells. Oncological patients who present with ascitis and benign pleural effusion, the diagnosis of PseudoMeigs syndrome should be considered.

  20. Impact and Timing of Bilateral Adrenalectomy for Refractory ACTH-Dependent Cushing’s Syndrome

    Science.gov (United States)

    Morris, Lilah F.; Harris, Rachel S.; Milton, Denái R.; Waguespack, Steven G.; Habra, Mouhammed A.; Jimenez, Camilo; Vassilopoulou-Sellin, Rena; Lee, Jeffrey E.; Perrier, Nancy D.; Grubbs, Elizabeth G.

    2014-01-01

    Introduction In patients with refractory ACTH-dependent Cushing’s syndrome (CS), we evaluated steroidogenesis inhibition (SI) and bilateral adrenalectomy (BA) to predict which patients might benefit most from each treatment modality. Methods Clinical data from patients treated 1970-2012 were retrospectively reviewed by treatment group (SI or SI+BA). Validated severity scales were used to calculate metabolic (M) score (hypokalemia, hyperglycemia, hypertension, proximal muscle weakness) and adverse events (AE) score (thrombosis, fracture, infection). Results 65 patients (16 pituitary, 49 ectopic) were treated with SI+BA (n=21,32%) or SI alone (n=44,68%). Presenting M scores and source of ACTH excess (ectopic vs. pituitary) were similar. Both groups improved metabolically after treatment. 39% of AEs in the SI+BA group occurred within 12 months of presentation. 24(55%) SI patients died (median survival 24.0 months); steroid excess contributed to 71%. Six SI+BA patients died (29%), including all 3 patients with recurrent CS after BA. Minor perioperative complications occurred in 7 patients (33%). Conclusions Post-treatment M and AE scores improved for all patients and 70% of AEs occurred in SI+BA patients within 12 months of presentation, emphasizing the importance of early surgical intervention. These data argue for the safety and efficacy of early BA in selected patients with uncontrollable CS. PMID:24383115

  1. A rare nonsyndromic presentation of bilateral doughnut shaped lip pits in an Indian child

    Directory of Open Access Journals (Sweden)

    Senthil Balasubramani

    2016-01-01

    Full Text Available Lip pits are a rare congenital anomaly that presents on the upper or lower lip or the commissure of the lips. Lip pits are an autosomal dominant trait occurring almost always in association with cleft lip or palate. They most commonly occur in association with developmental disturbances such as Van der Woude's syndrome, popliteal pterygium syndrome, oro-facial-digital syndrome, Marres-Cremers syndrome, and Hirschsprung disease. Its occurrence in nonsyndromic individuals is extremely rare with only a handful of cases reported. The identification of lip pits with other associated anomalies is crucial for genetic counseling; we report a case of nonsyndromic presentation of bilateral lip pits.

  2. Chronic exertional compartment syndrome with medial tibial stress syndrome in twins.

    Science.gov (United States)

    Banerjee, Purnajyoti; McLean, Christopher

    2011-06-14

    Chronic exertional compartment syndrome and medial tibial stress syndrome are uncommon conditions that affect long-distance runners or players involved in team sports that require extensive running. We report 2 cases of bilateral chronic exertional compartment syndrome, with medial tibial stress syndrome in identical twins diagnosed with the use of a Kodiag monitor (B. Braun Medical, Sheffield, United Kingdom) fulfilling the modified diagnostic criteria for chronic exertional compartment syndrome as described by Pedowitz et al, which includes: (1) pre-exercise compartment pressure level >15 mm Hg; (2) 1 minute post-exercise pressure >30 mm Hg; and (3) 5 minutes post-exercise pressure >20 mm Hg in the presence of clinical features. Both patients were treated with bilateral anterior fasciotomies through minimal incision and deep posterior fasciotomies with tibial periosteal stripping performed through longer anteromedial incisions under direct vision followed by intensive physiotherapy resulting in complete symptomatic recovery. The etiology of chronic exertional compartment syndrome is not fully understood, but it is postulated abnormal increases in intramuscular pressure during exercise impair local perfusion, causing ischemic muscle pain. No familial predisposition has been reported to date. However, some authors have found that no significant difference exists in the relative perfusion, in patients, diagnosed with chronic exertional compartment syndrome. Magnetic resonance images of affected compartments have indicated that the pain is not due to ischemia, but rather from a disproportionate oxygen supply versus demand. We believe this is the first report of chronic exertional compartment syndrome with medial tibial stress syndrome in twins, raising the question of whether there is a genetic predisposition to the causation of these conditions. Copyright 2011, SLACK Incorporated.

  3. Late onset Li-Fraumeni Syndrome with bilateral breast cancer and other malignancies: case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Kast Karin

    2012-06-01

    Full Text Available Abstract Background Li-Fraumeni-Syndrome (LFS is an autosomal-dominant, inherited tumour predisposition syndrome associated with heterozygous germline mutations in the TP53 gene. Patients with LFS are at a high risk to develop early-onset breast cancer and multiple malignancies, among which sarcomas are the most common. A high incidence of childhood tumours and close to 100% penetrance has been described. Knowledge of the genetic status of the TP53 gene in these patients is critical not only due to the increased risk of malignancies, but also because of the therapeutic implications, since a higher rate of radiation-induced secondary tumours in these patients has been observed. Case report We report a patient with LFS harbouring heterozygous, pathogenic TP53 germline mutation, who was affected by four synchronous malignancies at the age of 40: a myxofibrosarcoma of the right upper arm, bilateral breast cancer and a periadrenal liposarcoma. Radiological treatments and a surveillance program were adjusted according to recommendations for LFS patients. Conclusion Management of tumour treatment of patients with LFS is different to the general population because of their risk for secondary cancers in the radiation field. Screening procedures should take a possibly elevated risk for radiation induced cancer into account.

  4. Bilateral cochlear implantation in a patient with bilateral temporal bone fractures.

    Science.gov (United States)

    Chung, Jae Ho; Shin, Myung Chul; Min, Hyun Jung; Park, Chul Won; Lee, Seung Hwan

    2011-01-01

    With the emphasis on bilateral hearing nowadays, bilateral cochlear implantation has been tried out for bilateral aural rehabilitation. Bilateral sensorineural hearing loss caused by head trauma can get help from cochlear implantation. We present the case of a 44-year-old man with bilateral otic capsule violating temporal bone fractures due to head trauma. The patient demonstrated much improved audiometric and psychoacoustic performance after bilateral cochlear implantation. We believe bilateral cochlear implantation in such patient can be a very effective tool for rehabilitation. Copyright © 2011 Elsevier Inc. All rights reserved.

  5. Simultaneous Occurrence of Duane Retraction Syndrome with Marfan Syndrome

    Directory of Open Access Journals (Sweden)

    Mihir Kothari

    2011-01-01

    Full Text Available Marfan syndrome (MFS is an autosomal dominant disorder of connective tissue, while Duane retraction syndrome (DRS is a congenital cranial dysinnervation disorder (CCDD which can be transmitted as autosomal dominant disorder in 5–10% of patients. In this paper, we present an 8-year-old girl who presented with left eye DRS and bilateral subluxation of the lens associated with MFS in absence of familial involvement. To our knowledge this is the first case report of DRS with MFS. The occurrence of these syndromes together is very rare and appears to be coincidental.

  6. Ischio-pubic-patellar hypoplasia: is it a new syndrome?

    International Nuclear Information System (INIS)

    Habboub, H.K.; Thneibat, W.A.

    1997-01-01

    Aplasia/hypoplasia of the patella has been described as an isolated finding or, more commonly, as a part of congenital syndromes. We describe here bilateral absence of the patella in an 11-year-old girl with absence of the ischial and inferior pubic rami bilaterally. Other associated skeletal and soft-tissue deformities are also reported. To our knowledge, the constellation of these findings has not been described previously and represents a unique syndrome. (orig.). With 1 fig

  7. The heart of the matter: Acute quadriplegia with respiratory paralysis - bilateral medial medullary infarction

    Directory of Open Access Journals (Sweden)

    Bhaskara P Shelley

    2017-01-01

    Full Text Available The clinicoradiologic correlate of bilateral medial medullary infarction is described. This is a rare clinical entity of vertebrobasilar stroke syndrome with catastrophic consequences and a poor functional prognosis. Since the initial symptom is quadriplegia, the clinical diagnosis without neuroimaging can be challenging with a potential for misdiagnosis as Guillain–Barré syndrome or brainstem encephalitis in the early stages. The teaching neuroimage of the “heart appearance” sign is revisited.

  8. The Mason-Pfizer monkey virus internal scaffold domain enables in vitro assembly of human immunodeficiency virus type 1 Gag

    Czech Academy of Sciences Publication Activity Database

    Sakalian, M.; Dittmer, S. S.; Gandy, A. D.; Rapp, N. D.; Zábranský, Aleš; Hunter, E.

    2002-01-01

    Roč. 76, č. 21 (2002), s. 10811-10820 ISSN 0022-538X Grant - others:NIH(US) CA-27834; NIH(US) AI-43230 Keywords : Mason-Pfizer monkey virus Subject RIV: CE - Biochemistry Impact factor: 5.241, year: 2002

  9. Sindrome peri-silviana bilateral não relacionada a malformações: relato de dois casos

    OpenAIRE

    Grasel, Ralf Paulo; Carvalho Neto, Arnolfo; Bruck, Isac; Antoniuk, Sérgio A.

    1996-01-01

    In this case report we present the neuroimaging findings and clinical features of two patients with a bilateral perisylvian syndrome not related to malformations, but probably to ischemic etiology. Evaluations including history, general and neurologic examinations, electroencephalograms, and imaging data were reviewed as recent literature about the subject.Neste relato de caso, apresentamos os achados de neuroimagem e os aspectos clínicos de dois pacientes com síndrome peri-silviana bilateral...

  10. Two cases of Goldenhar syndrome.

    Science.gov (United States)

    Caca, Ihsan; Unlu, Kaan; Ari, Seyhmus

    2006-01-01

    We describe two boys with Goldenhar syndrome. The 8-year-old boy had an epibulbar dermoid in his left eye, type 1 Duane syndrome, bilateral preauricular appendages, and an interauricular septal defect. The 10-year-old boy had an epibulbar dermoid in his right eye, appendages in the right preauricular region, and sensorineural hearing loss.

  11. CASE REPORT Moebius syndrome with macular hyperpigmentation ...

    African Journals Online (AJOL)

    Bilateral macular hyperpigmentation was detected in our patient on fundus examination which was not reported previously in Moebius syndrome cases. In addition there is hypoplasia of the right pectoralis major muscle. KEYWORDS Moebius syndrome; Macular hyperpigmentation; Pectoralis major muscle; Cranial nerves; ...

  12. Bilateral Cochlear Implants: Maximizing Expected Outcomes.

    Science.gov (United States)

    Wallis, Kate E; Blum, Nathan J; Waryasz, Stephanie A; Augustyn, Marilyn

    Sonia is a 4 years 1 month-year-old girl with Waardenburg syndrome and bilateral sensorineural hearing loss who had bilateral cochlear implants at 2 years 7 months years of age. She is referred to Developmental-Behavioral Pediatrics by her speech/language pathologist because of concerns that her language skills are not progressing as expected after the cochlear implant. At the time of the implant, she communicated using approximately 20 signs and 1 spoken word (mama). At the time of the evaluation (18 months after the implant) she had approximately 70 spoken words (English and Spanish) and innumerable signs that she used to communicate. She could follow 1-step directions in English but had more difficulty after 2-step directions.Sonia was born in Puerto Rico at 40 weeks gestation after an uncomplicated pregnancy. She failed her newborn hearing test and was given hearing aids that did not seem to help.At age 2 years, Sonia, her mother, and younger sister moved to the United States where she was diagnosed with bilateral severe-to-profound hearing loss. Genetic testing led to a diagnosis of Waardenburg syndrome (group of genetic conditions that can cause hearing loss and changes in coloring [pigmentation] of the hair, skin, and eyes). She received bilateral cochlear implants 6 months later.Sonia's mother is primarily Spanish-speaking and mostly communicates with her in Spanish or with gestures but has recently begun to learn American Sign Language (ASL). In a preschool program at a specialized school for the deaf, Sonia is learning both English and ASL. Sonia seems to prefer to use ASL to communicate.Sonia receives speech and language therapy (SLT) 3 times per week (90 minutes total) individually in school and once per week within a group. She is also receiving outpatient SLT once per week. Therapy sessions are completed in English, with the aid of an ASL interpreter. Sonia's language scores remain low, with her receptive skills in the first percentile, and her

  13. CT study in primary low spinal fluid pressure syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Hoshino, Moritoshi; Okayama, Kenji; Kubo, Hiromasa; Watanabe, Hiromi; Endou, Riuko (Ohmiya Red Cross Hospital, Yono, Saitama (Japan))

    1991-02-01

    CT findings in primary low spinal fluid pressure syndrome were studied on the basis of 3 cases. Case 1 was a 43-year-old male with a complicated bilateral isodense subdural hematoma (SDH). Case 2 was a 45-year-old female with a complicated bilateral high dense SDH. Case 3 was a 36-year-old female discharged without any complications after spinal fluid pressure normalized. Slight downward displacement of the brain under low spinal fluid pressure was shown as the narrowing of a Sylvian fissures and infratentorial cisterns on CT. On the other hand, in this syndrome with a complicated bilateral isodense SDH, in addition to this finding, CT revealed distortion and narrowing of body lateral ventricles, which might be differential findings from this syndrome without complicated SDH. Under low spinal fluid pressure, bridging veins are more stretched by a downward displacement of the brain. And consequently they were easily injured and SDH was developed. (author).

  14. A Data-Driven Analysis of the Rules Defining Bilateral Leg Movements during Sleep.

    Science.gov (United States)

    Ferri, Raffaele; Manconi, Mauro; Rundo, Francesco; Zucconi, Marco; Aricò, Debora; Bruni, Oliviero; Ferini-Strambi, Luigi; Fulda, Stephany

    2016-02-01

    The aim of this study was to describe and analyze the association between bilateral leg movements (LMs) during sleep in subjects with restless legs syndrome (RLS), in order to eventually support or challenge the current scoring rules defining bilateral LMs. Polysomnographic recordings of 100 untreated patients with RLS (57 women and 43 males, mean age 57 y) were included. In each recording, we selected as reference all LMs that occurred during sleep and that were separated from another ipsilateral LM by at least 10 sec of EMG inactivity. For each reference LM and an evaluation interval from 5 sec before the onset to 5 sec after the offset of the reference LM, we evaluated (1) the presence or absence of contralateral leg movement activity and (2) the distribution of the onset-to-onset and (3) the offset-to-onset differences between bilateral LMs. We selected a mean of 368 (± 222 standard deviation [SD]) reference LMs per subject. For 42% (± 22%) of the reference LMs no contralateral leg movement activity was observed within the evaluation interval. In 55% (± 22%) exactly one and in 3% (± 2%) more than one contralateral LM was observed. A further evaluation of events where exactly one contralateral LM was observed showed that in most (1) the two LMs were overlapping (93% ± 9% SD) and (2) were classified as bilateral according to the World Association of Sleep Medicine and the International Restless Legs Syndrome Study Group (WASM/ IRLSSG) (96% ± 6% SD) and (3) the American Academy of Sleep Medicine scoring rules (99% ± 2% SD). Although there was a systematic and statistically significant difference in standard LM indices during sleep based on the two different definitions of bilateral LMs, the size of the difference was not clinically meaningful (maximum individual, absolute difference in LM indices ± 2.5). In addition, we found that the duration of LMs within bilateral LM pairs was longer compared to monolateral LMs and that the duration of the single LMs in

  15. Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2017-12-01

    Conclusion: Haploinsufficiency of FGFRL1 and TACC3 at 4p16.3 can be associated with bilateral cleft lip and palate of WHS facial dysmorphism and short long bones. Prenatal diagnosis of facial cleft with short long bones should raise a suspicion of chromosome microdeletion syndromes.

  16. Carlos Esplá : anticlericalismo y masonería en un republicano español del siglo XX

    Directory of Open Access Journals (Sweden)

    Pedro Luis Angosto Vélez

    2002-01-01

    Full Text Available A través de este artículo se ha intentado dar una explicación —dentro del contexto español— al tradicional vínculo entre republicanismo, anticlericalismo y masonería. Para ello hemos recurrido a analizar la trayectoria de un hombre público, Carlos Esplá, que responde plenamente al perfil esencial del republicano del primer tercio del siglo XX. Se ha querido, otra cosa es que se haya conseguido, demostrar como en muchos casos tal vinculación no respondía tanto a cuestiones dogmáticas, como a motivaciones racionalistas o coyunturales. Es decir, buena parte de los republicanos eran anticlericales y masones, lo que no quería decir que fuesen antirreligiosos, ni tampoco que cumpliesen con los ritos y las consignas del Grande Oriente. Ambas militancias estaban estrechamente ligadas a una coyuntura histórica específica.Through this article we have tried to explain —within the spanish context— the traditional link between republicanism, anticlericalism and masonry. For that reason we have resorted to analise he career of a republic man, Carlos Esplá, who perfectly answers to the profile of the republican of the first third of the xx Century. We have, we don't know if we have succeeded, to show how in lots of cases such a connection doesn't have to do with dogmatic questions as much as rationalistic or current motives. A great idea of republicans were anticlerical and masons, which didn't mean they were anti-religious, ñor that they followed the rites and instructions of the Great East. Both affiliations/tendencies were closely linked to a specific historical situation.

  17. Molecular organization of Mason-Pfizer monkey virus capsids assembled from Gag polyprotein in .I.Escherichia coli./I..

    Czech Academy of Sciences Publication Activity Database

    Nermut, M. V.; Bron, P.; Thomas, D.; Rumlová, Michaela; Ruml, T.; Hunter, E.

    2002-01-01

    Roč. 76, č. 9 (2002), s. 4321-4330 ISSN 0022-538X R&D Projects: GA ČR GA203/00/1005; GA ČR GA203/98/P151 Institutional research plan: CEZ:AV0Z4055905 Keywords : Mason-Pfizer monkey virus Subject RIV: CE - Biochemistry Impact factor: 5.241, year: 2002

  18. Bilateral Malar Reconstruction Using Patient-Specific Polyether Ether Ketone Implants in Treacher-Collins Syndrome Patients With Absent Zygomas.

    Science.gov (United States)

    Sainsbury, David C G; George, Alan; Forrest, Christopher R; Phillips, John H

    2017-03-01

    The authors performed bilateral malar reconstruction using polyether ether ketone implants in 3 patients with Treacher-Collins syndrome with absent, as opposed to hypoplastic, zygomata. These patient-specific implants were fabricated using computed-aided design software reformatted from three-dimensional bony preoperative computed tomography images. The first time the authors performed this procedure the implant compressed the globe resulting in temporary anisocoria that was quickly recognized intraoperatively. The implant was immediately removed and the patient made a full-recovery with no ocular disturbance. The computer-aided design and manufacturing process was adjusted to include periorbital soft-tissue boundaries to aid in contouring the new implants. The same patient, and 2 further patients, subsequently underwent malar reconstruction using this soft tissue periorbital boundary fabrication process with an additional 2 mm relief removed from the implant's orbital surface. These subsequent procedures were performed without complication and with pleasing aesthetic results. The authors describe their experience and the salutary lessons learnt.

  19. Nongranulomatous anterior uveitis in a patient with Usher syndrome

    OpenAIRE

    Alzuhairy, Sultan Abdulaziz S.; Alfawaz, Abdullah

    2013-01-01

    A 34-year-old female with Usher syndrome, but no family history of similar illness, presented with complaints of vision reduction, redness, and photophobia. Biomicroscopic examination showed mildly injected conjunctivae bilateral, small, round keratic precipitates; bilateral +2 cells with no flare reaction in the anterior chamber; and bilateral posterior subcapsular cataracts. No associated posterior synechiae, angle neovascularization, or iris changes were detected; normal intraocular pressu...

  20. The Short Fiction of Bobbie Ann Mason: Silent Voices, Silenced Voices, Voicing Silence.

    OpenAIRE

    Delgado Marín, Candela

    2015-01-01

    La presente tesis doctoral se enmarca dentro del campo de los estudios norteamericanos, centrándose en el relato breve de la escritora sureña Bobbie Ann Mason. El título de este proyecto apunta al foco de la investigación: el silencio. He utilizado tres puntos de vista diferentes para examinar los cuentos de esta escritora: el contexto socio-cultural, estudios comparativos literarios y teóricos y, por último, el análisis textual de su narrativa. Considero la producción literaria de Bobbie ...

  1. Gag domains of Mason-Pfizer monkey virus mediating assembly of capsids and "Core related" particles in bacteria

    Czech Academy of Sciences Publication Activity Database

    Rumlová, Michaela; Hunter, E.; Nermut, M.; Pichová, Iva; Ruml, T.

    2001-01-01

    Roč. 77, č. 2 (2001), s. 110-113 ISSN 0168-1702 R&D Projects: GA ČR GA203/00/1005 Grant - others:Fogarty International Award(US) TW00050; NIH(US) CA-27834 Institutional research plan: CEZ:AV0Z4055905 Keywords : Mason-Pfizer monkey virus Subject RIV: CE - Biochemistry Impact factor: 1.806, year: 2001

  2. Unity is strength : Masonic lodges in Ottoman Syria with special focus on Tripoli and El Mina (1860-1908)

    NARCIS (Netherlands)

    Sommer, Dorothe

    2013-01-01

    Unity is Strength – this was the core statement made by Syrian freemasons already in 1876 when spreading their ideas all over the Syrian lands. With this phrase in mind, in this book Dorothe Sommer analyses early masonic lodges that existed in the late Ottoman Empire showing how Syrian freemasons

  3. Heterogeneity in Waardenburg syndrome.

    Science.gov (United States)

    Hageman, M J; Delleman, J W

    1977-01-01

    Heterogeneity of Waardenburg syndrome is demonstrated in a review of 1,285 patients from the literature and 34 previously unreported patients in five families in the Netherlands. The syndrome seems to consist of two genetically distinct entities that can be differentiated clinically: type I, Waardenburg syndrome with dystopia canthorum; and type II, Waardenburg syndrome without dystopia canthorum. Both types have an autosomal dominant mode of inheritance. The incidence of bilateral deafness in the two types of the syndrome was found in one-fourth with type I and about half of the patients with type II. This difference has important consequences for genetic counseling. Images Fig. 7 Fig. 8 Fig. 9 PMID:331943

  4. [Norrie-Wardburg syndrome].

    Science.gov (United States)

    Skevas, A; Kastanioudakis, I; Daniilidis, B; Exarchakos, G

    1992-10-01

    We describe a case of a 25-year old patient with typical Norrie-Warburg Syndrome. From the first year of his life he was found to be blind, with bilateral sensorineural loss of hearing. Audiological examination showed symmetrical moderate bilateral sensorineural hearing loss. His hearing loss was refractory to treatment for the last eight years. Because of timely diagnosis of hearing loss and timely fitting of a hearing aid, the patient could study at school and graduate from university education. Disease carriers who are clinically healthy can be identified only via chromosome analysis.

  5. Hennekam lymphangiectasia syndrome

    Science.gov (United States)

    Lakshminarayana, G.; Mathew, A.; Rajesh, R.; Kurien, G.; Unni, V. N.

    2011-01-01

    Hennekam lymphangiectasia syndrome is a rare disorder comprising of intestinal and renal lymphangiectasia, dysmorphic facial appearance and mental retardation. The facial features include hypertelorism with a wide, flat nasal bridge, epicanthic folds, small mouth and small ears. We describe a case of a multigravida with bad obstetric history and characteristic facial and dental anomalies and bilateral renal lymphangiectasia. To our knowledge this is the first case of Hennekam lymphangiectasia syndrome with anodontia to be reported from India. PMID:22022089

  6. Thrombocytopenia-absent radius syndrome: a clinical genetic study.

    NARCIS (Netherlands)

    Greenhalgh, K.L.; Howell, R.; Bottani, A.; Ancliff, P.J.; Brunner, H.G.; Verschuuren-Bemelmans, C.C.; Vernon, E.; Brown, K.W.; Newbury-Ecob, R.

    2002-01-01

    The thrombocytopenia-absent radius (TAR) syndrome is a congenital malformation syndrome characterised by bilateral absence of the radii and a thrombocytopenia. The lower limbs, gastrointestinal, cardiovascular, and other systems may also be involved. Shaw and Oliver in 1959 were the first to

  7. Thrombocytopenia-absent radius syndrome : a clinical genetic study

    NARCIS (Netherlands)

    Greenhalgh, KL; Howell, RT; Bottani, A; Ancliff, PJ; Brunner, HG; Verschuuren-Bemelmans, CC; Vernon, E; Brown, KW; Newbury-Ecob, RA

    2002-01-01

    The thrombocytopenia-absent radius (TAR) syndrome is a congenital malformation syndrome characterised by bilateral absence of the radii and a thrombocytopenia. The lower limbs, gastrointestinal, cardiovascular, and other systems may also be involved. Shaw and Oliver in 1959 were the first to

  8. [Poland's syndrome].

    Science.gov (United States)

    Slezak, R; Sasiadek, M

    2000-08-01

    Poland's syndrome consists of the variable clinical features, but always includes unilateral aplasia of the chest wall muscles and ipsilateral anomalies of upper extremity. The incidence of Poland's syndrome, reported by different authors ranges from 1:10,000 to 1:100,000 and is observed more frequently in males than in females with the right side of the body affected more often than the left. The etiology of this syndrome is still discussed. However most of described cases were sporadic, rare familial incidence of Poland's syndrome were also presented. Therefore different etiologic factors of the Poland's syndrome are taken into account: genetic, vascular compromise during early stages of embriogenesis but also teratogenic effect of environmental xenobiotics (e.g. cigarette smoking by pregnant women). The authors present also the case of 20-years old man with inherited bilateral syndactyly with the right side aplasia of major pectoralis muscle and face asymmetry. The familial history was negative in respect to the features, associated with Poland's syndrome.

  9. Meckel Syndrome: Genetics, Perinatal Findings, and Differential Diagnosis

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2007-03-01

    Full Text Available Meckel syndrome (MKS is a lethal, autosomal recessive disorder characterized by occipital encephalocele, bilateral renal cystic dysplasia, hepatic ductal proliferation, fibrosis and cysts, and polydactyly. Genetic heterogeneity of MKS has been established by three reported MKS loci, i.e., MKS1 on 17q23, MKS2 on 11q13, and MKS3 on 8q21.13-q22.1. MKS1 encodes a component of flagellar apparatus basal body proteome, which is associated with ciliary function. MKS3 encodes a seven-transmembrane receptor protein, meckelin. The identification of the MKS3 gene as well as the MKS1 gene enables molecular genetic testing for at-risk families, and allows accurate genetic counseling, carrier testing, and prenatal diagnosis. Pregnancies with MKS fetuses may be associated with an elevated maternal serum α-fetoprotein level and an abnormal screening result in the second-trimester maternal serum screening test. The classic MKS triad of occipital encephalocele, postaxial polydactyly, and bilateral enlarged multicystic kidneys can be diagnosed before the 14th gestational weeks by ultrasonography. However, later in pregnancy, severe oligohydramnios may make the diagnosis of polydactyly and encephalocele difficult. Differential diagnosis for MKS includes autosomal recessive polycystic kidney disease, trisomy 13, Smith-Lemli-Opitz syndrome, hydrolethalus syndrome, Senior-Loken syndrome, Joubert syndrome, Bardet-Biedl syndrome, and oral-facial-digital syndrome type 1. This article provides an overview of genetics, perinatal findings, and differential diagnosis of MKS. The ciliopathy underlies the pathogenesis of MKS. Prenatal diagnosis of bilateral enlarged multicystic kidneys should alert MKS and prompt a thorough investigation of central nervous system malformations and polydactyly.

  10. Adrenal Surgery for Cushing's Syndrome: An Update.

    Science.gov (United States)

    Di Dalmazi, Guido; Reincke, Martin

    2018-06-01

    Recent advances in the molecular pathogenesis and the natural history of Cushing's syndrome have improved the understanding of the management of this disease. The long-term efficacy of several cortisol-lowering medical treatments is currently under evaluation. However, adrenalectomy is a safe option for the treatment of patients affected by Cushing's syndrome. Unilateral adrenalectomy is the gold standard for treatment of adrenocortical adenomas associated with hypercortisolism. Bilateral adrenalectomy has been widely used in the past as definitive treatment of bilateral macronodular hyperplasia and persistent or recurrent Cushing's disease. The indication and the potential applications of this technique have been recently critically analyzed. Copyright © 2018 Elsevier Inc. All rights reserved.

  11. Congenital upper eyelids ectropion in Down’s syndrome

    Directory of Open Access Journals (Sweden)

    Corredor-Osorio, Rafael

    2017-02-01

    Full Text Available Congenital bilateral ectropion of the upper eyelids is a rare, benign condition reported in ophthalmic literature. It is more frequently associated with Down’s syndrome, ichthyosis, and sporadic cases in newborns from black population. We report three cases of congenital bilateral upper eyelid ectropion associated with Down’s syndrome. Management of these patients usually requires medial and lateral canthoplasties, full-thickness pentagonal resection of the upper eyelids and placement of skin grafts. We present herein the evolution of one of these patients and we will discuss the mechanism of the eyelid ectropion and its treatment.

  12. Congenital glaucoma as an ophthalmic manifestation of Frank-Ter Haar syndrome.

    Science.gov (United States)

    Aktas, Zeynep; Karaca, Emine Esra; Dogan, Nurcan; Çakmak, Tugba; Unlu, Metin; Tok, Levent; Hasanreisoglu, Murat

    2014-04-01

    We report on a patient with Frank-Ter Haar syndrome that is associated with high intraocular pressures. A 21-day-old male patient was referred to our clinic for surgical treatment of congenital glaucoma. On ophthalmic examination, he had buphthalmos, mild corneal edema and high IOP readings in both eyes. The patient underwent uneventful trabeculotomy surgery, bilaterally. Marked bilateral anterior iris insertion was noted during the surgery. Childhood glaucoma may be associated with Frank-Ter Haar syndrome.

  13. A Rare Interstitial Duplication of 8q22.1–8q24.3 Associated with Syndromic Bilateral Cleft Lip/Palate

    Directory of Open Access Journals (Sweden)

    Regina Ferreira Rezek

    2014-01-01

    Full Text Available We present a rare case of 8q interstitial duplication derived from maternal balanced translocations in a patient with bilateral cleft lip and palate in syndromic form associated with other congenital malformations. G-banding cytogenetic analysis revealed a chromosomal abnormality in the form of the karyotype 46,XX der(22t(8;22(q22.1;p11.1mat. Chromosome microarray analysis evidenced a 49 Mb duplicated segment of chromosome 8q with no pathogenic imbalances on chromosome 22. Two siblings also carry the balanced translocation. We have compared this case with other “pure” trisomies of 8q patients reported in the literature and with genome wide association studies recently published. This work highlights the involvement of chromosome 8q in orofacial clefts.

  14. Pressure pain sensitivity topographical maps reveal bilateral hyperalgesia of the hands in patients with unilateral carpal tunnel syndrome.

    Science.gov (United States)

    Fernández-de-Las-Peñas, César; Madeleine, Pascal; Martínez-Perez, Almudena; Arendt-Nielsen, Lars; Jiménez-García, Rodrigo; Pareja, Juan A

    2010-08-01

    To assess topographical pressure pain sensitivity maps of the hand in patients with unilateral carpal tunnel syndrome (CTS) as compared with healthy subjects. A total of 20 women with CTS (ages 32-52 years) and 20 healthy matched women (ages 32-51 years) were recruited. Pressure pain thresholds (PPTs) were measured bilaterally over 30 locations of the palm of each hand by an assessor blinded to the subjects' conditions. Patients showed lower PPTs in both hands in all of the measurement points as compared with controls (P < 0.001 for all). PPTs were lower in those points over the proximal phalanx of the fingers and the thenar eminency as compared with those points located over the distal phalanx of the fingers (P < 0.001). CTS patients showed lower PPT levels in dermatomes C6, C7, and C8 when compared with healthy controls (P < 0.001 for all), but without differences between dermatomes (P = 0.4). PPT was negatively correlated with both hand pain intensity and duration of symptoms (P < 0.001 for all). Our findings revealed bilateral generalized pressure pain hyperalgesia in unilateral CTS because lower PPT levels were found in all of the points. The pressure pain hyperalgesia was not uniformly distributed since PPTs were lower in points over the proximal phalanx of the fingers and the thenar eminency as compared with those points located over the distal phalanx of the fingers. The decrease in PPT levels was associated with the intensity and the duration of the pain symptoms, supporting a role of both peripheral and central sensitization mechanisms in this pain condition.

  15. Carraro syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Wendler, H.; Schwarz, R.

    1980-07-01

    The report concerns a girl aged 9 1/2 years who was deaf and dumb and had marked shortening of the calves with deformities of the feet and bilateral, congenital hypoplasia of the tibiae. This syndrome was first described by Carraro in 1931, but there have been no further reports since then.

  16. A MITF mutation associated with a dominant white phenotype and bilateral deafness in German Fleckvieh cattle.

    Directory of Open Access Journals (Sweden)

    Ute Philipp

    Full Text Available A dominantly inherited syndrome associated with hypopigmentation, heterochromia irides, colobomatous eyes and bilateral hearing loss has been ascertained in Fleckvieh cattle (German White Fleckvieh syndrome. This syndrome has been mapped to bovine chromosome (BTA 22 using a genome-wide association study with the bovine high density single nucleotide polymorphism array. An R210I missense mutation has been identified within microphthalmia-associated transcription factor (MITF as responsible for this syndrome. The mutation is located in the highly conserved basic region of the protein and causes a negative-dominant effect. SOX10 and PAX3 promoter binding site mutations in MITF could be ruled out as causative for the German White Fleckvieh syndrome. Molecular characterization of this newly detected bovine syndrome means a large animal model is now available for the Tietz syndrome in humans.

  17. Acquired retinal pigmentary degeneration in a child with 13q deletion syndrome.

    Science.gov (United States)

    Aguilera, Zenia P; Belin, Peter J; Cavuoto, Kara M; Jayakar, Parul; McKeown, Craig A

    2015-10-01

    Orbeli syndrome, or 13q deletion syndrome, is a rare condition caused by a distal deletion in the long arm of chromosome 13. The syndrome is characterized by severe physical malformations and developmental delays and has been associated with numerous ocular manifestations. We report the case of a 10-year-old boy with 13q deletion syndrome, who was evaluated for impaired vision and found to have bilateral retinal pigmentary changes resembling those seen in retinitis pigmentosa. There has only been one other case of retinal pigment variation in association with 13q deletion syndrome; however, this represents the first case of bilateral symmetric retinal pigmentary changes with corresponding rod and cone dysfunction on electroretinography. Copyright © 2015 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

  18. Single-row modified mason-allen versus double-row arthroscopic rotator cuff repair: a biomechanical and surface area comparison.

    Science.gov (United States)

    Nelson, Cory O; Sileo, Michael J; Grossman, Mark G; Serra-Hsu, Frederick

    2008-08-01

    The purpose of this study was to compare the time-zero biomechanical strength and the surface area of repair between a single-row modified Mason-Allen rotator cuff repair and a double-row arthroscopic repair. Six matched pairs of sheep infraspinatus tendons were repaired by both techniques. Pressure-sensitive film was used to measure the surface area of repair for each configuration. Specimens were biomechanically tested with cyclic loading from 20 N to 30 N for 20 cycles and were loaded to failure at a rate of 1 mm/s. Failure was defined at 5 mm of gap formation. Double-row suture anchor fixation restored a mean surface area of 258.23 +/- 69.7 mm(2) versus 148.08 +/- 75.5 mm(2) for single-row fixation, a 74% increase (P = .025). Both repairs had statistically similar time-zero biomechanics. There was no statistical difference in peak-to-peak displacement or elongation during cyclic loading. Single-row fixation showed a higher mean load to failure (110.26 +/- 26.4 N) than double-row fixation (108.93 +/- 21.8 N). This was not statistically significant (P = .932). All specimens failed at the suture-tendon interface. Double-row suture anchor fixation restores a greater percentage of the anatomic footprint when compared with a single-row Mason-Allen technique. The time-zero biomechanical strength was not significantly different between the 2 study groups. This study suggests that the 2 factors are independent of each other. Surface area and biomechanical strength of fixation are 2 independent factors in the outcome of rotator cuff repair. Maximizing both factors may increase the likelihood of complete tendon-bone healing and ultimately improve clinical outcomes. For smaller tears, a single-row modified Mason-Allen suture technique may provide sufficient strength, but for large amenable tears, a double row can provide both strength and increased surface area for healing.

  19. Educación, Masonería y Segunda República. Algunos aspectos críticos

    Directory of Open Access Journals (Sweden)

    María Dolores GÓMEZ MOLLEDA

    2010-03-01

    Full Text Available RESUMEN: Clarín lo dijo escuetamente en frase de resonancia gineriana: la educación es la cuestión de España. No es extraño, pues, que abandonar los moldes de nuestra ineducación fuese para la masonería, como para otras minorías españolas interesadas en el tan llevado y traído regeneracionismo hispano, una preocupación básica.

  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. Exercise Induced Rhabdomyolysis with Compartment Syndrome and Renal Failure

    Directory of Open Access Journals (Sweden)

    Mary Colleen Bhalla

    2014-01-01

    Full Text Available Exertional rhabdomyolysis is sequela that is occasionally seen after strenuous exercise. The progression to compartment syndrome or renal failure is a rare complication that requires prompt recognition and treatment to prevent morbidity (Giannoglou et al. 2007. We present a case of a 22-year-old college football player who presented to the emergency department (ED after a typical leg workout as part of his weight conditioning. He was found to have rhabdomyolysis with evidence of renal insufficiency. His condition progressed to bilateral compartment syndrome and renal failure requiring dialysis. After bilateral fasciotomies were performed he had resolution of his compartment syndrome. He continued to be dialysis dependent and had no return of his renal function at discharge 12 days after admission.

  2. Open angle glaucoma as a manifestation of Waardenburg′s syndrome.

    Directory of Open Access Journals (Sweden)

    Gupta Viney

    2000-01-01

    Full Text Available Waardenburg′s syndrome is a rare, autosomal dominant disorder, with several clinical signs, each with variable penetrance. We report this case of Waardenburg′s syndrome with bilateral open-angle glaucoma with unique gonioscopic findings.

  3. Frank-ter Haar syndrome with unusual clinical features.

    Science.gov (United States)

    Dundar, Munis; Saatci, Cetin; Tasdemir, Sener; Akcakus, Mustafa; Caglayan, Ahmet Okay; Ozkul, Yusuf

    2009-01-01

    Frank-ter Haar syndrome first recognized by Frank et al. [Y. Frank, M. Ziprkowski, A. Romano, R. Stein, M.B. Katznelson, B. Cohen, R.M. Goodman, Megalocornea associated with multiple skeletal anomalies: a new genetic syndrome?, J. Genet. Hum. 21 (1973) 67-72.] and subsequently confirmed by ter Haar et al. [B. Ter Haar, B. Hamel, J. Hendriks, J. de Jager, Melnick-Needles syndrome: indication for an autosomal recessive form, Am. J. Med. Genet. 13 (1982) 469-477.]. The main clinical features of the syndrome are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macro cornea with or without glaucoma, full cheeks, small chin, bowing of the long bones, and flexion deformity of the fingers [S.M. Maas, H. Kayserili, J. Lam, M.Y. Apak, R.C. Hennekam, Further delineation of Frank-ter Haar syndrome, Am. J. Med. Genet. 131 (2004) 127-133.]. We report a child with Frank-ter Haar syndrome presenting unusual clinical features. Hypopigmented areas in hair, bilateral adducted thumb, bilateral contractures in elbows and pelvic limb, atrial septal defect have not been described previously in the literature. Our patient also had double-outlet right ventricle.

  4. Educación esotérica de la Masonería española decimonónica

    Directory of Open Access Journals (Sweden)

    Pedro F. ÁLVAREZ LÁZARO

    2010-03-01

    Full Text Available RESUMEN: Una de las características que mejor ha definido teóricamente a la institución masónica a lo largo de su historia ha sido su vocación esencialmente educadora. En este punto existe una coincidencia unánime tanto en las declaraciones de principios de las principales obediencias de todas las épocas y países, como en los reglamentos internos de las logias y en las manifestaciones públicas de los masones más representativos. Tal característica podía desprenderse ya de las conocidas Constituciones de Anderson de 1723, auténtica carta magna de la «Masonería Especulativa» o moderna, que al proclamar la neutralidad religiosa y política de la Orden y su sumisión a los poderes legítimamente establecidos, le cerraba el paso, en gran medida, al intento de cambiar la sociedad alterando las estructuras fundamentales de ésta, pero le posibilitaba intentar transformarla cambiando a las personas, es decir, utilizando la educación como instrumento de reforma.

  5. A Rare Entity: Bilateral First Rib Fractures Accompanying Bilateral Scapular Fractures

    OpenAIRE

    Gulbahar, Gultekin; Kaplan, Tevfik; Turker, Hasan Bozkurt; Gundogdu, Ahmet Gokhan; Han, Serdar

    2015-01-01

    First rib fractures are scarce due to their well-protected anatomic locations. Bilateral first rib fractures accompanying bilateral scapular fractures are very rare, although they may be together with scapular and clavicular fractures. According to our knowledge, no case of bilateral first rib fractures accompanying bilateral scapular fractures has been reported, so we herein discussed the diagnosis, treatment, and complications of bone fractures due to thoracic trauma in bias of this rare en...

  6. A Rare Entity: Bilateral First Rib Fractures Accompanying Bilateral Scapular Fractures.

    Science.gov (United States)

    Gulbahar, Gultekin; Kaplan, Tevfik; Turker, Hasan Bozkurt; Gundogdu, Ahmet Gokhan; Han, Serdar

    2015-01-01

    First rib fractures are scarce due to their well-protected anatomic locations. Bilateral first rib fractures accompanying bilateral scapular fractures are very rare, although they may be together with scapular and clavicular fractures. According to our knowledge, no case of bilateral first rib fractures accompanying bilateral scapular fractures has been reported, so we herein discussed the diagnosis, treatment, and complications of bone fractures due to thoracic trauma in bias of this rare entity.

  7. [Bilateral cochlear implants].

    Science.gov (United States)

    Müller, J

    2017-07-01

    Cochlear implants (CI) are standard for the hearing rehabilitation of severe to profound deafness. Nowadays, if bilaterally indicated, bilateral implantation is usually recommended (in accordance with German guidelines). Bilateral implantation enables better speech discrimination in quiet and in noise, and restores directional and spatial hearing. Children with bilateral CI are able to undergo hearing-based hearing and speech development. Within the scope of their individual possibilities, bilaterally implanted children develop faster than children with unilateral CI and attain, e.g., a larger vocabulary within a certain time interval. Only bilateral implantation allows "binaural hearing," with all the benefits that people with normal hearing profit from, namely: better speech discrimination in quiet and in noise, as well as directional and spatial hearing. Naturally, the developments take time. Binaural CI users benefit from the same effects as normal hearing persons: head shadow effect, squelch effect, and summation and redundancy effects. Sequential CI fitting is not necessarily disadvantageous-both simultaneously and sequentially fitted patients benefit in a similar way. For children, earliest possible fitting and shortest possible interval between the two surgeries seems to positively influence the outcome if bilateral CI are indicated.

  8. Vitreous veils and radial lattice in Marshall syndrome.

    Science.gov (United States)

    Brubaker, Jacob W; Mohney, Brian G; Pulido, Jose S; Babovic-Vuksanovic, Dusica

    2008-12-01

    To report the findings of membranous vitreous veils and radial lattice in a child with Marshall syndrome. Observational case report. Retrospective review of medical records and fundus photograph of a 6-year-old boy with Marshall syndrome. Vitreoretinal findings were significant for bilateral membranous vitreous veils and radial lattice degeneration. This case demonstrates the occurrence of vitreous veils and radial lattice degeneration in patients with Marshall syndrome.

  9. A Rare Entity: Bilateral First Rib Fractures Accompanying Bilateral Scapular Fractures

    Directory of Open Access Journals (Sweden)

    Gultekin Gulbahar

    2015-01-01

    Full Text Available First rib fractures are scarce due to their well-protected anatomic locations. Bilateral first rib fractures accompanying bilateral scapular fractures are very rare, although they may be together with scapular and clavicular fractures. According to our knowledge, no case of bilateral first rib fractures accompanying bilateral scapular fractures has been reported, so we herein discussed the diagnosis, treatment, and complications of bone fractures due to thoracic trauma in bias of this rare entity.

  10. Vestibular dysfunction in Turner syndrome: a case report.

    Science.gov (United States)

    Baxter, Michael; Agrawal, Yuri

    2014-02-01

    Turner syndrome is a well-known cause of sensorineural hearing loss, and the lack of estrogen has been implicated in cochlear dysfunction. It has never been associated with vestibular dysfunction. We report a case of a patient with Turner syndrome who was found to have bilateral vestibular dysfunction based on video-oculography (VOG) testing. A single patient with a history of Turner syndrome who was found to have significant bilateral vestibular dysfunction. After noticing a deficit in the vestibulo-ocular reflexes on qualitative horizontal head impulse examination, the patient underwent VOG testing. VOG testing quantatively measures angular vestibulo-ocular reflex (AVOR) gain in the horizontal semicircular canal plane. AVOR gain represents the eye movement response to a head movement; in normal individuals the eye movement is fully compensatory and gain values are close to unity. VOG results showed AVOR gains of 0.29 and 0.36 on the right and left sides, respectively. We have presented a case of a woman with Turner syndrome with asymptomatic vestibular dysfunction demonstrated with VOG testing. Although there is a documented relationship between Turner syndrome and sensorineural hearing loss, there are no previous studies or case reports linking Turner syndrome and vestibular dysfunction. Additional research and added vigilance in monitoring Turner syndrome patients may be warranted.

  11. 131I-19-iodocholesterol adrenal scanning in Cushing's syndrome

    International Nuclear Information System (INIS)

    Charbonnel, B.; Chatal, J.F.; Chupin, M.; Guillon, J.

    1976-01-01

    7 patients were investigated: 2 bilateral hyperplasia due to pituitary ACTH excess showed bilateral adrenal activity. 1 post-surgical remnant with recurrent Cushing's syndrome was detected. 1 adenoma showed unilateral intense activity and absent activity in the controlateral gland, even after ACTH treatment. 2 carcinomas were weakly imaged. In 1 case, hepatic metastasis showed 131 I-19-iodocholesterol uptake. Adrenal imaging with 131 I-19-iodocholesterol is not a good procedure for assessing hormonal function. It is a valuable and safe tool in the localization and diagnosis of adrenal lesions causing Cushing's syndrome, perhaps better than radiologic procedures. Radiation dosimetry is acceptable [fr

  12. Moebius syndrome and narcolepsy: A case dissertation

    Directory of Open Access Journals (Sweden)

    Lídia Sabaneeff

    2014-03-01

    Full Text Available Moebius syndrome (MS is a congenital syndrome characterized by unilateral or bilateral aplasia of the VI and VII cranial nerves, with consequent convergent strabismus and bilateral peripheral facial paralysis. This syndrome might be associated with diurnal excessive sleepiness and muscular hypotony, mimetizing in this manner, narcolepsy. The diagnostic criteria for narcolepsy depend on the presence of REM sleep during the day. As with patients with MS we do not have ocular movements due to the VI nerve paralysis, the absence of horizontal ocular movements might make it difficult to confirm narcolepsy in these patients. The common clinical characteristics of these patients are due to a possible impairment of the same structures that are affected in the central nervous system. However, the mechanism by which it occurs remains to be fully understood. Further electrophysiological researches are necessary to better clarify the association of these two diseases. The objective of this dissertation is to describe and discuss a case of Moebius syndrome with diurnal excessive sleepiness as a differential diagnosis for narcolepsy.

  13. Poland-Mobius syndrome in an infant girl

    OpenAIRE

    Al-Mazrou, Khalid A.; Al-Ghonaim, Yazeed A.; Al-Fayez, Abdulrhman I.

    2009-01-01

    Mobius syndrome is a rare condition of unclear origin, characterized by a unilateral or bilateral congenital facial weakness with impairment of ocular abduction, which is frequently associated with limb anomalies. Poland described a condition in which there was unilateral absence of pectoralis major muscle and ipsilateral syndactyly. The combination of Poland-Mobius syndrome is rare, with an estimated prevalence 1:500 000. We describe a case of Poland-Mobius syndrome in association with conge...

  14. Adams-Oliver syndrome associated with cutis marmorata telangiectatica congenita and congenital cataract: a case report.

    Science.gov (United States)

    Fayol, Laurence; Garcia, Patricia; Denis, Danièle; Philip, Nicole; Simeoni, Umberto

    2006-04-01

    A female infant presented with Adams-Oliver syndrome (AOS), intrauterine growth retardation, severe cutis marmorata telangiectatica congenita, bilateral congenital cataract, and periventricular lesions. The here-reported association of bilateral congenital cataract with AOS is original. Adams-Oliver syndrome is a genetic defect that causes a vasculopathy and leads to a variety of phenotypes. This observation further supports the current understanding of the physiopathology of AOS.

  15. Anophthalmia-Waardenburg syndrome: a report of three cases.

    Science.gov (United States)

    Suyugül, Z; Seven, M; Hacihanefioğlu, S; Kartal, A; Suyugül, N; Cenani, A

    1996-04-24

    We report on 2 Turkish families with children who had bilateral anophthalmia, upper and lower limb abnormalities, mental retardation and consanguineous parents. We have evaluated the 2 cases in the first family and the only case in the second as anophthalmia-Waardenburg syndrome. This is an extremely rare autosomal recessive syndrome.

  16. A longitudinal study of the bilateral benefit in children with bilateral cochlear implants.

    Science.gov (United States)

    Asp, Filip; Mäki-Torkko, Elina; Karltorp, Eva; Harder, Henrik; Hergils, Leif; Eskilsson, Gunnar; Stenfelt, Stefan

    2015-02-01

    To study the development of the bilateral benefit in children using bilateral cochlear implants by measurements of speech recognition and sound localization. Bilateral and unilateral speech recognition in quiet, in multi-source noise, and horizontal sound localization was measured at three occasions during a two-year period, without controlling for age or implant experience. Longitudinal and cross-sectional analyses were performed. Results were compared to cross-sectional data from children with normal hearing. Seventy-eight children aged 5.1-11.9 years, with a mean bilateral cochlear implant experience of 3.3 years and a mean age of 7.8 years, at inclusion in the study. Thirty children with normal hearing aged 4.8-9.0 years provided normative data. For children with cochlear implants, bilateral and unilateral speech recognition in quiet was comparable whereas a bilateral benefit for speech recognition in noise and sound localization was found at all three test occasions. Absolute performance was lower than in children with normal hearing. Early bilateral implantation facilitated sound localization. A bilateral benefit for speech recognition in noise and sound localization continues to exist over time for children with bilateral cochlear implants, but no relative improvement is found after three years of bilateral cochlear implant experience.

  17. Persistent Mullerian Duct Syndrome with Transverse Testicular ...

    African Journals Online (AJOL)

    Eastham JA, McEvoy K, Sullivan R, Chandrasoma P. A case of simultaneous bilateral nonseminomatous testicular tumors in persistent müllerian duct syndrome. J Urol 1992;148:407-8. 8. Shinmura Y, Yokoi T, Tsutsui Y. A case of clear cell adenocarcinoma of the müllerian duct in persistent müllerian duct syndrome: The first ...

  18. Composición socio-ocupacional de los masones del siglo XIX.

    Directory of Open Access Journals (Sweden)

    Ricardo Martínez Esquivel

    2015-03-01

    Full Text Available Una de las razones históricas del éxito de la Masonería en el mundo ha sido el hecho de que sus logias constituyen un espacio idóneo para el libre pensamiento y expresión, por lo que entre sus miembros es común encontrar personas de distintas procedencias, ocupaciones e incluso religiones. Este ambiente de tolerancia y fraternidad ha permitido además, la iniciación de personas de distintos niveles socioeconómicos y de diversas nacionalidades. Por tanto, el objetivo de este trabajo es analizar a partir de una base prosopográfica, el perfil socio-ocupacional y las posibles redes sociales que integraron los miembros de las logias de Costa Rica durante el siglo XIX.

  19. [Prenatal diagnosis of 17q12 microdeletion syndrome in fetal renal abnormalities].

    Science.gov (United States)

    Jiang, Y L; Qi, Q W; Zhou, X Y; Geng, F F; Bai, J J; Hao, N; Liu, J T

    2017-10-25

    Objectives: To analyze 3 cases of 17q12 microdeletion syndrome diagnosed prenatally, and to demonstrate clinical phenotype of the syndrome in prenatal setting. Methods: From January 2013 to July 2017, 1 370 women received invasive prenatal diagnosis and chromosome microarray analysis (CMA) in Peking Union Medical College Hospital. Among them, 3 fetuses were diagnosed as 17q12 microdeletion syndrome. All 3 cases were low-risk pregnancies. Abnormal structures in fetal kidney were found in all 3 cases, including 1 case of multiple renal cysts, 2 cases of bilateral hyperechogenic kidneys. These women accepted invasive prenatal diagnosis followed by karyotyping, parental fluorescence in situ hybridization or CMA validation. Results: The second and third trimester ultrasound showed that all 3 fetuses had bilateral renal structural abnormalities, including hyperechogenic kidney, multiple cysts and renal pelvis dilatation. The karyotyping of the 3 fetuses were normal. CMA examination showed that each case had 1.4-1.6 Mb deletion in 17q12 region. Two cases were de novo deletion and 1 case was inherited from the mother who had mild symptoms. The 3 women decided to terminate pregnancies after genetic counseling. Conclusion: 17q12 microdeletion syndrome is a recurrent chromosome microdeletion syndrome, and the unique phenotype in prenatal setting is the abnormal structure of bilateral kidneys. A few cases of 17q12 microdeletion syndrome even inherited normally phenotypical parents, and prenatal genetic counseling of 17q12 microdeletion syndrome is relatively difficult.

  20. Is it Vogt-Koyanagi-Harada syndrome?

    Directory of Open Access Journals (Sweden)

    Digambar Dashatwar

    2015-01-01

    Full Text Available Vogt-Koyanagi-Harada syndrome (VKH syndrome is named after ophthalmologists Alfred Vogt from Switzerland and Yoshizo Koyanagi and Einosuke Harada from Japan. It is an uncommon multisystem disorder characterized by chronic, bilateral, diffuse granulomatous uveitis with associated dermatological, neurological and auditory manifestations. It is an autoimmune disease directed against melanocytes. We report a case presenting with vitiligo, auditory defect with additional dextrocardia.

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

    African Journals Online (AJOL)

    Rabah M. Shawky

    2015-05-08

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

  2. A case of relapsing flitting bilateral idiopathic orbital inflammation

    Energy Technology Data Exchange (ETDEWEB)

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

    2009-12-15

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

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

    LENUS (Irish Health Repository)

    Browne, Michelle Ann

    2009-12-01

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

  4. Hypothyroid-induced acute compartment syndrome in all extremities.

    Science.gov (United States)

    Musielak, Matthew C; Chae, Jung Hee

    2016-12-20

    Acute compartment syndrome (ACS) is an uncommon complication of uncontrolled hypothyroidism. If unrecognized, this can lead to ischemia, necrosis and potential limb loss. A 49-year-old female presented with the sudden onset of bilateral lower and upper extremity swelling and pain. The lower extremity anterior compartments were painful and tense. The extensor surface of the upper extremities exhibited swelling and pain. Motor function was intact, however, limited due to pain. Bilateral lower extremity fasciotomies were performed. Postoperative Day 1, upper extremity motor function decreased significantly and paresthesias occurred. She therefore underwent bilateral forearm fasciotomies. The pathogenesis of hypothyroidism-induced compartment syndrome is unclear. Thyroid-stimulating hormone-induced fibroblast activation results in increased glycosaminoglycan deposition. The primary glycosaminoglycan in hypothyroid myxedematous changes is hyaluronic acid, which binds water causing edema. This increases vascular permeability, extravasation of proteins and impaired lymphatic drainage. These contribute to increased intra-compartmental pressure and subsequent ACS. Published by Oxford University Press and JSCR Publishing Ltd. All rights reserved. © The Author 2016.

  5. Anti-beta2 glycoprotein 1 and the anti-phospholipid syndrome.

    LENUS (Irish Health Repository)

    Keane, Pearse A

    2012-02-03

    PURPOSE: To describe a patient who presented with bilateral retinal vascular occlusion and the use of anti-beta2 glycoprotein 1 (GPI) antibody testing in the diagnosis of antiphospholipid syndrome. DESIGN: Observational case report. METHODS: Hematological investigations were performed on a 49-year-old man who presented with rapid onset of bilateral severe central retinal vein occlusion. RESULTS: Lupus anticoagulant and anticardiolipin antibody testing was negative. Markedly raised titers of anti-beta2 GPI antibodies were detected on two separate occasions. CONCLUSIONS: The raised titers of anti-beta2 GPI antibodies were considered to strongly suggest an underlying diagnosis of the antiphospholipid syndrome.

  6. Complex neurological symptoms in bilateral thalamic stroke due to Percheron artery occlusion.

    Science.gov (United States)

    Caruso, Paola; Manganotti, Paolo; Moretti, Rita

    2017-01-01

    The artery of Percheron is a rare anatomical variant where a single thalamic perforating artery arises from the proximal posterior cerebral artery (P1 segment) between the basilar artery and the posterior communicating artery and supplies the rostral mesencephalon and both paramedian territories of the thalami. Almost one-third of human brains present this variant. Occlusion of the artery of Percheron mostly results in a bilateral medial thalamic infarction, which usually manifests with altered consciousness (including coma), vertical gaze paresis, and cognitive disturbance. The presentation is similar to the "top of the basilar syndrome", and early recognition should be prompted. We describe the case of a young female with this vessel variant who experienced a bilateral thalamic stroke. Magnetic resonance angiography demonstrated bilateral thalamic infarcts and a truncated artery of Percheron. Occlusion of the vessel was presumably due to embolism from a patent foramen ovale. Thrombolysis was performed, with incomplete symptom remission, cognitive impairment, and persistence of speech disorders. Early recognition and treatment of posterior circulation strokes is mandatory, and further investigation for underlying stroke etiologies is needed.

  7. Probable mild Opitz trigonocephaly C syndrome

    African Journals Online (AJOL)

    Rabah M. Shawky

    2011-12-11

    Dec 11, 2011 ... brachycephaly shape to the skull, hypoplastic scrotum and bilateral undescended testes, and mild generalised ... It may occur isolated or syndromic involving other abnor- ..... [12] Sargent C, Burn J, Baraitser M, Pembrey ME.

  8. Esthesioneuroblastoma in Maffucci's syndrome

    International Nuclear Information System (INIS)

    Kurian, Sobha; Crowell, Edward B.; Ertan, Esmer; Rassekh, Christopher; Ducatman, Barbara

    2004-01-01

    Maffucci's syndrome consists of multiple cutaneous hemangiomas, dyschondroplasia, and enchondromas with potential for malignant change. We report a case of a 33-year-old man with Maffucci's syndrome who presented with a several month history of nasal congestion, facial pain, and diminished vision in his left eye. Radiological studies showed a large soft tissue mass centered in the sinonasal area, extending bilaterally into maxillary sinuses and orbits with compression of left optic nerve. Biopsy of the mass showed esthesioneuroblastoma (olfactory neuroblastoma). Chemotherapy resulted in initial improvement, but the tumor recurred and did not respond to further treatment, resulting in his death. Sarcomatous tumors are reported in Maffucci's syndrome, but this is a rare case of a neuroendocrine tumor in a patient with Maffucci's syndrome. (orig.)

  9. Masquerade Syndrome of Multicentre Primary Central Nervous System Lymphoma

    Directory of Open Access Journals (Sweden)

    Silvana Guerriero

    2011-01-01

    Full Text Available Purpose. In Italy we say that the most unlucky things can happen to physicians when they get sick, despite the attention of colleagues. To confirm this rumor, we report the sad story of a surgeon with bilateral vitreitis and glaucoma unresponsive to traditional therapies. Methods/Design. Case report. Results. After one year of steroidal and immunosuppressive therapy, a vitrectomy, and a trabeculectomy for unresponsive bilateral vitreitis and glaucoma, MRI showed a multicentre primary central nervous system lymphoma, which was the underlying cause of the masquerade syndrome. Conclusions. All ophthalmologists and clinicians must be aware of masquerade syndromes, in order to avoid delays in diagnosis.

  10. Kluver – Bucy Syndrome in a Nigeria Male | Aina | Nigerian ...

    African Journals Online (AJOL)

    Kluver-Bucy Syndrome, first described in monkeys as a result of bilateral ablation of their temporal lobes consists of hypermetamorphosis, visual agnosia, hyperarality and hyper-sexuality. In man, similar but not exact syndrome had been described and the symptom manifestations included placidity, apathy, bulimia, ...

  11. Spontaneous bilateral anterior partial in-the-bag intraocular lens dislocation following routine annual eye examination.

    Science.gov (United States)

    Ford, Joshua R; Werner, Liliana; Owen, Leah; Vasavada, Shail A; Crandall, Alan

    2014-09-01

    We present the case of an 81-year-old man with pseudoexfoliation syndrome (PXF) in whom spontaneous bilateral anterior partial in-the-bag intraocular lens (IOL) dislocation was diagnosed following a routine dilated examination that demonstrated only mild pseudophacodonesis with no evidence of subluxation. Uneventful cataract surgery with placement of single-piece hydrophobic acrylic posterior chamber IOLs had been performed in both eyes 7 years previously. Bilateral IOL repositioning with scleral fixation was performed to correct the dislocation. Postoperative examinations showed remarkable improvement in visual acuity and IOL stability. We hypothesize that zonular weakness secondary to PXF predisposed the patient to bilateral IOL partial dislocation. Pupil dilation in the setting of mild pseudophacodonesis at the time of routine examination may have been a precipitating factor. To our knowledge, bilateral IOL subluxation/dislocation has been described in a limited number of case reports. No author has a financial or proprietary interest in any material or method mentioned. Copyright © 2014 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

  12. La integración de las mujeres en la masonería española a través del rito de adopción (1868- 1939

    Directory of Open Access Journals (Sweden)

    Natividad ORTIZ ALBEAR

    2010-02-01

    Full Text Available RESUMEN: La masonería de Adopción o masonería femenina nació en Francia en 1774 como una fórmula para permitir la iniciación de mujeres y, por lo tanto, evitar la prohibición que las Constituciones de Anderson (1723 habían establecido al respecto. En España los primeros reglamentos y rituales de Adopción fueron publicados a finales del siglo XIX, muy influidos por el modelo francés. A partir de entonces, las iniciaciones de mujeres procuraron ajustarse a la legalidad masónica, lo que provocó una segregación que en ocasiones fue contestada desde las propias logias. A pesar de todo, en términos generales la masonería femenina fue aceptada puesto que, aunque tibia, suponía una forma de integrar a la mujer en el proyecto social que defendían. ABSTRACT: The Masonry of Adoption or feminine Masonry was born in France in 1774 like a formula to allow the initiation of women and, therefore, to avoid the prohibition that Anderson’s Constitutions (1723 they had settled down in this respect. In Spain the first regulations and rituals of Adoption were published at the end of the XIX century, very influenced by the French pattern. Starting from then, the initiations of women tried to be adjusted to the Masonic legality, what caused a segregation that was answered from the own lodges in occasions. In spite of everything, in general terms the feminine Masonry was accepted since, although tibia, supposed a form of integrating the woman in the social project that they defended.

  13. Case report of a bilateral adrenal myelolipoma associated with Cushing disease.

    Science.gov (United States)

    Park, Se Yoon; Kwak, Mi Kyung; Kim, Hye Jeong; Park, Hyeong Kyu; Suh, Kyo-Il; Yoo, Myung Hi; Jin, So Young; Yun, Sumi; Byun, Dong Won

    2017-12-01

    Adrenal myelolipomas are rare benign tumors, composed of a variable mixture of mature adipose tissue and hematopoietic tissue. These tumors are frequently detected incidentally and are usually asymptomatic, and hormonally inactive. During a routine health checkup, a 52-year-old man was found to have a tumor on the bilateral adrenal glands. Abdominal computed tomography revealed a well-defined, heterogeneously enhanced bilateral adrenal mass, suggesting a myelolipoma. The hormonal evaluation revealed adrenocorticotropic hormone (ACTH) dependent Cushing syndrome. The patient underwent left adrenalectomy, and transsphenoidal resection of a pituitary mass. The final diagnosis was adrenal myelolipoma associated with Cushing disease. Growth of right adrenal myelolipoma was detected during the 7-year follow-up. There were enhancing pituitary lesions in repeat magnetic resonance imaging of the sellar region, which implies persistent or recurrent pituitary adenoma. This case reinforces relationship between Cushing disease and adrenal myelolipoma. To the best of our knowledge, this is the first reported pathologically confirmed bilateral adrenal myelolipoma associated with Cushing disease. This report supports the idea that ACTH is associated with the development of adrenal myelolipoma. Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.

  14. [Hypogonadism caused by Gorlin-Goltz syndrome].

    Science.gov (United States)

    Marín Romero, Olivia; Hernández Marín, Imelda; Ayala Ruiz, Aquiles R

    2006-09-01

    The Gorlin-Goltz syndrome is a dominant autosomic disorder characterized by cancerigenic predisposition and multiple development defects, apparently without reproductive compromise. The complex is characterized by four primary symptoms, which include nevoid basal cell epitheliomas malignantly prone, keratocystic jaw, skeletal abnormalities and intracranial calcifications. Apparently, reproductive problems reported had been rarely associated with this syndrome. We present the case of a patient with clinic stigmatae of Gorlin-Goltz syndrome, who had a characteristic progress as seen in the literature; he was the fifth product of a 43 year-old female (father was 48 years old); who at birth disclosed right eye microftalmy, bilateral cryptorchidism surgically treated at age of six. At puberty, an odontogenic cyst of the jaw was noted and enucleated. He also showed facial nevi in neck, thorax and abdomen. When he was admitted being 14 years old in our clinic, he had recurrent bilateral cryptorchidism, sexual immatturity and infertility. It is important to take into consideration Gorlin-Goltz stigmatae in cases of hypogonadism in order to recognize a further genetic influence.

  15. Evolution of the three surgical patients with rectal neoplasm using the York Mason

    International Nuclear Information System (INIS)

    Praderi, R.; Harretche, M.

    1998-01-01

    Before the development of mechanical suture machines, we often used the York Mason transrectal approach technique for resection of villous tumors of the rectum and small carcinomas.Three female patients who underwent this procedure in 1979, 1983 and 1986 were followed up to the present. In two of the cases (An, 28 years, and Eg, 68 years), small epitheliomas were resected (4 and 3 cm). Eg underwent radiotherapy, as she had a Malpighian tumor, and a year later plastia of the anus.Evolution was good and 14 year later a small perineal tumor appeared which was resected on may 23 1997 and turned out to be a fibrosarcoma with little cellular activity (the patient is now 81 years old).The third patient(MZ; 70 years old) had a great villous tumor which was resected in late 1986,received and was re operated with York Mason approach four years later (october 1990)At the beginning of 1994 a new received was resected by means of endoscopy, but bled profusely and has to undergo urgent surgery carrying out a perineal amputation of the rectum which was left open (Lisfranc).Histological study showed it was a tubular and villous adenocarcinoma with high mucosecretant activity.In March of the same year the perineum was closed and the sigmoidal stump was resected below the colostomy. In late 1996 an encapsulated tumor appeared with subcutaneous situation in the posterior perineum; this was resected in november 19, 1996 with local anesthesia.Microscopical findings also showed an adenocarcinoma with great production of mucine.The patient is now 80 years old and she has not relapsed.The three patients are alive; two of them have continent anus.They have been operated on for 20, 14 and 11 years

  16. Olmsted syndrome

    Directory of Open Access Journals (Sweden)

    Kumar Pramod

    2008-01-01

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

  17. Larsen syndrome

    Directory of Open Access Journals (Sweden)

    Mohammed Mahbubul Islam

    2016-08-01

    Full Text Available Larsen syndrome is a rare inherited disorder characterized by congenital dislocation of multiple joints along with other anomalies of heart, face, hands and bones. Larsen syndrome was first described in 1950 by Larsen, Schottstaedt and Bost. In the present report, we describe a 10 year old girl who presented with mid facial hypoplasia with depressed nasal bridge, high arched palate, bilateral talipes equinovarus and high arched feet. On examination, she had short stature (HAZ -3.5 SD with hyperextension of knee joint, fixed flexion of elbow joint. Awareness of this condition and associated complications may help in management and follow up of these patients. 

  18. [Usher syndrome: about a case].

    Science.gov (United States)

    Daoudi, Chama; Boutimzine, Noureddine; Haouzi, Samia El; Lezrek, Omar; Tachfouti, Samira; Lezrek, Mounir; Laghmari, Mina; Daoudi, Rajae

    2017-01-01

    Usher syndrome is a genetic disease resulting in double sensory deprivation (auditory and visual) called deafblindness. We report the case of a 50-year old patient, born to consanguineous parents, presenting with congenital deafness associated with normal vestibular function and pigmentary retinopathy responsible for decreased bilateral visual acuity occurred at the age of 16 years. This association composes Usher syndrome type 2, a rare autosomal recessive disorder. Cataract surgery allowed visual acuity improvement in this patient.

  19. Effects of slow repetitive transcranial magnetic stimulation in patients with corticobasal syndrome.

    Science.gov (United States)

    Civardi, Carlo; Pisano, Fabrizio; Delconte, Carmen; Collini, Alessandra; Monaco, Francesco

    2015-06-01

    Corticobasal syndrome is characterized by asymmetric cortical sensorimotor dysfunction and parkinsonism; an altered cortical excitability has been reported. We explored with transcranial magnetic stimulation the motor cortical excitability in corticobasal syndrome, and the effects of slow repetitive transcranial magnetic stimulation. With transcranial magnetic stimulation, we studied two corticobasal syndrome patients. We determined bilaterally from the first dorsal interosseous muscle: relaxed threshold, and contralateral and ipsilateral silent period. We also evaluated the contralateral silent period after active/sham slow repetitive transcranial magnetic stimulation on the most affected side. At T0 the silent period was bilaterally short. On the most affected side, active slow repetitive transcranial magnetic stimulation induced a short lasting prolongation of the contralateral silent period. In corticobasal syndrome, transcranial magnetic stimulation showed a reduction cortical inhibitory phenomenon potentially reversed transiently by slow repetitive transcranial magnetic stimulation.

  20. Staged Bilateral Laparoscopic Adrenalectomy for Infantile ACTH-independent Cushing's Syndrome (Bilateral Micronodular Non-pigmented Adrenal Hyperplasia): A Case Report.

    Science.gov (United States)

    Simforoosh, Nasser; Razzaghy Azar, Maryam; Soltani, Mohmmad Hossein; Nourbakhsh, Mona; Shemshaki, Hamidreza

    2017-08-29

    ACTH-independent Cushing's syndrome is an uncommon disorder in children. While laparoscopic adrenalectomy is well-established in adults, it is rarely used in infants and is associated with some concerns. A seven-month infant was referred to our hospital due to progressive signs and symptoms of Cushing's syndrome. Laboratory data confirmed ACTH-independent hypercortisolism. No history of exogenous corticosteroid contact was observed. The patient underwent left transperitoneal laparoscopic adrenalectomy when she was 7 months old, nevertheless,complete response was not seen. The patient underwent right laparoscopic adrenalectomy (contra-lateral adrenal gland) when she was 20 months old. The signs and symptoms of Cushing's syndrome began to resolve and serum and urine cortisol levels became normal 3 months after the second surgery. laparoscopic adrenalectomy is safe and feasible in infants, and in this case, relieved patient of the symptoms and saved her life.

  1. Antigenic analysis of the major structural protein of the Mason-Pfizer monkey virus

    International Nuclear Information System (INIS)

    Schochetman, G.; Boehm-Truitt, M.; Schlom, J.

    1976-01-01

    The major internal protein, p27 (m.w. 27,000 daltons) of the Mason-Pfizer monkey virus (MPMV) was purified by gel filtration and ion-exchange chromatography and then used to develop a radioimmunoassay (RIA). This RIA was specific for MPMV because no immunologic cross-reactivity was observed between p27 of MPMV and 13 different RNA tumor viruses of mammalian and avian origin. However, the p27 of MPMV grown in three different primate cells exhibited identical antigenic cross-reactivity. In addition, significant levels of p27 were found only in MPMV-infected cells. These results indicate that synthesis of p27 is induced after virus infection and that p27 represents a viral-coded protein

  2. Bilateral bone conduction devices: improved hearing ability in children with bilateral conductive hearing loss.

    Science.gov (United States)

    Dun, Catharina A J; Agterberg, Martijn J H; Cremers, Cor W R J; Hol, Myrthe K S; Snik, Ad F M

    2013-01-01

    The aim of the study was to investigate whether children with bilateral conductive hearing loss benefit from their second device (i.e., the bilateral bone conduction device [BCD]). Speech recognition in noise was assessed in 10 children fitted with bilateral BCDs during childhood. Speech recognition was measured in 2 conditions with both BCDs active. Spatial resolution was tested with the Minimum Audible Angle test in the bilateral and monaural listening conditions. Children demonstrated an improvement in speech recognition when speech was presented from the front and noise was presented from the right-hand side as compared with both speech and noise being presented from the front. The minimum audible angle decreased from 57° in the best monaural condition to 13° in the bilateral condition. The audiological outcomes demonstrate the advantage of bilateral BCD fitting in children with bilateral conductive hearing loss.

  3. Genetics Home Reference: Burn-McKeown syndrome

    Science.gov (United States)

    ... Condition bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance BMKS choanal atresia-hearing loss-cardiac defects- ... C, Wagget J, Bray R, Goodship J. New dysmorphic syndrome with choanal atresia in siblings. Clin Dysmorphol. ...

  4. Bilateral reorganization of the dentate gyrus in hippocampal sclerosis: a postmortem study.

    Science.gov (United States)

    Thom, M; Martinian, L; Catarino, C; Yogarajah, M; Koepp, M J; Caboclo, L; Sisodiya, S M

    2009-09-29

    Hippocampal sclerosis (HS) is the most common surgical pathology associated with mesial temporal lobe epilepsy (MTLE). HS is typically characterized by mossy fiber sprouting (MFS) and reorganization of neuropeptide Y (NPY) fiber networks in the dentate gyrus. One potential cause of postoperative seizure recurrence following temporal lobe surgery may be the presence of seizure-associated bilateral hippocampal damage. We aimed to investigate patterns of hippocampal abnormalities in a postmortem series as identified by NPY and dynorphin immunohistochemistry. Analysis of dentate gyrus fiber reorganization, using dynorphin (to demonstrate MFS) and NPY immunohistochemistry, was carried out in a postmortem epilepsy series of 25 cases (age range 21-96 years). In 9 patients, previously refractory seizures had become well controlled for up to 34 years prior to death. Bilateral MFS or abnormal NPY patterns were seen in 15 patients including those with bilateral symmetric, asymmetric, and unilateral HS by conventional histologic criteria. MFS and NPY reorganization was present in all classical HS cases, more variably in atypical HS, present in both MTLE and non-MTLE syndromes and with seizure histories of up to 92 years, despite seizure remission in some patients. Synaptic reorganization in the dentate gyrus may be a bilateral, persistent process in epilepsy. It is unlikely to be sufficient to generate seizures and more likely to represent a seizure-induced phenomenon.

  5. Aerial gamma ray and magnetic survey: Mason City quadrangle, Iowa and Minnesota. Final report

    International Nuclear Information System (INIS)

    1981-02-01

    The Mason City quadrangle covers 6900 miles of the northern Midwestern Physiographic Province in northern Iowa and southern Minnesota. The surface is largely covered by Quaternary glacial and related deposits. The subglacial surface is exposed only in the northeast and is composed of thin Mesozoic and Paleozoic sediments overlying Precambrian basement. A search of available literature revealed no known uranium deposits. A total of 89 uranium anomalies were detected and briefly described in this report. None were considered significant, and all appear to be related to cultural features. Concentrations of K, U, and T are extremely low throughout the quadrangle. Magnetic data appear to illustrate complexities in the underlying Precambrian

  6. Neuralgic Amyotrophy: A Rare Cause of Bilateral Diaphragmatic Paralysis

    Directory of Open Access Journals (Sweden)

    Neil Shinder

    1998-01-01

    Full Text Available Neuralgic amyotrophy, also known as brachial neuritis, is a well described clinical entity. Diaphragmatic dysfunction, as a result of phrenic nerve root involvement (cervical roots 3 to 5, is an uncommon, but increasingly recognized association. The case of a previously healthy 61-year-old woman who, after a prodrome of neck and shoulder discomfort, presented with severe orthopnea is described. Pulmonary function and electrophysiological studies led to a diagnosis of bilateral diaphragmatic paralysis. The patient's clinical course and the exclusion of other nerve entrapment syndromes and neurological disorders strongly favoured the diagnosis of neuralgic amyotrophy.

  7. [Athymhormic syndrome and progressive paraplegia disclosing adrenoleukomyeloneuropathy in an adult].

    Science.gov (United States)

    Brosset, C; Ceccaldi, M; Pierlovisi, F; Poncet, M

    1995-01-01

    A 40-year-old man presented with both paraparesia and an athymhormic syndrome. Bicapsular lesions together with abnormal evoked motor potentials suggested cortical and spinal involvement in the deficiency syndrome. The neuropsychologic symptoms appeared to be secondary to bilateral pallidium lesions. Associated signs were adrenoleukocystrophy and adrenomyeloneuropathy suggesting the term, adrenoleukocyeloneuropathy.

  8. A rare case of short stature: Say Meyer syndrome.

    Science.gov (United States)

    Karthik, T S; Prasad, N Rajendra; Rani, P Radha; Maheshwari, Rushikesh; Reddy, P Amaresh; Chakradhar, B V S; Menon, Bindu

    2013-10-01

    Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. We are reporting a case of Say Meyer syndrome presented to our hospital for short stature and developmental delay at age 3½ years. A 3½-year-old boy presented to our hospital for decreased growth velocity from the age of 1 year. History revealed the boy had a birth weight of 2.3 kg, had an episode of seizures in the neonatal period. He was born to non-consanguineous marriage. He had global developmental delay and there was a lack of bowel and bladder control. History did not reveal any hearing or visual impairment. No history of any chronic systemic illnesses. Magnetic resonance imaging (MRI) brain revealed mild diffuse frontotemporal atrophy with multiple irregular gliotic areas in bilateral frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres. Diffuse thinning of corpus callosum. Diffuse periventricular hyper intensity on T2W and fluid attenuated inversion recovery sequences. Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. Characteristic MRI brain findings include diffuse frontotemporal atrophy with multiple gliotic areas in frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres.

  9. Establishment and extinction of a population of South Georgian diving petrel (Pelecanoides georgicus) at Mason Bay, Stewart Island, New Zealand, during the late Holocene

    International Nuclear Information System (INIS)

    Holdaway, R.N.; Jones, M.D.; Beavan Athfield, N.R.

    2003-01-01

    A population of South Georgian diving petrels (Pelecanoides georgicus) (c. 130 g) became extinct at Mason Bay, on the west coast of Stewart Island, before European settlement. Pacific rat (Rattus exulans) bones with the diving petrel fossils provided an opportunity to determine whether the rats arrived before the petrels went extinct. Fifteen 14 C accelerator mass spectrometry (AMS) ages on purified diving petrel bone gelatin from various parts of Mason Bay clustered unexpectedly in the 14th and 15th centuries AD, and none was older. Bayesian statistical analysis, using a Markov Chain Monte Carlo procedure, gave a 95% probability that the diving petrel colony was founded between 1338 and 1440 AD, lasted 40-310 years, and became extinct between 1475 and 1650 AD. Possible reasons for the late colonisation of Mason Bay by South Georgian diving petrels burrow are discussed. Bayesian analysis of five 14 C AMS determinations on Pacific rat bone gelatin did not exclude the possibility that the Pacific rat arrived before the diving petrel colony was established. However, the enriched δ 13 C of their bone gelatin suggests that the rats had a partially marine diet, and a terrestrial calibration procedure for their AMS ages was probably not appropriate. The Pacific rat is likely to have arrived after the diving petrel colony became established and probably caused the bird's extinction after a short period of coexistence. (author). 103 refs., 3 figs., 5 tabs

  10. Dense pigmentation of the posterior lens capsule associated with the pigment dispersion syndrome.

    Science.gov (United States)

    Lin, Danny Y; Volpicelli, Mark; Singh, Kuldev

    2003-12-01

    To report an unusual case of pigment dispersion syndrome associated with unilateral dense pigmentation of the posterior lens capsule. Case report. A 59-year-old male with bilateral pigment dispersion syndrome presented with progressive decrease in visual acuity in the left eye over the past 10 to 20 years. Clinical examination revealed the typical findings of pigment dispersion syndrome including the presence of bilateral Krunkenberg spindles, iris transillumination defects, and heavy trabecular meshwork pigmentation. Of note, there was remarkably dense pigmentation of the posterior lens capsule in the eye with decreased visual acuity. Pigmentation of the posterior lens capsule may be a rare finding associated with pigment dispersion syndrome. Such a finding suggests that there may be aqueous flow into the retrolental space in some patients with this condition. The optimal treatment of this unusual condition remains undetermined.

  11. [Coffin-Siris syndrome. Critical study of the literature apropos of a case].

    Science.gov (United States)

    Foasso, M F; Hermier, M; Descos, B; Collet, J P; Perron, F

    1983-03-01

    The authors report a case of the Coffin Siris syndrome which associates a ungueo-digital syndrome (special by the bilateral aplasia or severe hypoplasia of nails and third phalanx of fifth toes and fingers) to other anomalies: facies with thinly fine hairs contrasting with bushy and dense eyebrows and body hypertrichosis, hypotonia and mental retardation. The connections of the Coffin Siris syndrome with the trisomy 9 p+ syndrome and the fetal hydantoïn syndrome are discussed.

  12. Association of Nasal Nostril Stenosis with Bilateral Choanal Atresia: A Case Report

    Directory of Open Access Journals (Sweden)

    Shahin Abdollahifakhim

    2014-01-01

    Full Text Available Introduction: Neonatal nasal airway obstruction induces various degrees of respiratory distress. The management of this disease, including surgical repair, will depend on the severity and location of the obstruction. We describe here a case of congenital nasal nostril stenosis that required surgical repair for stenting of both nares after coanal atresia repair.   Case Report: A 2 days old female newborn referred to neonatal department of Tabriz Children’s Hospital affiliated to the University of Medical Sciences of Tabriz, Iran on the 3rd of December, 2011 immediately after birth with respiratory distress due to bilateral coanal atresia and nasal hypoplasia with very small nostrils. CT scan showed normal brain and bilateral choanal atresia with normal size Pyriform apertures.   Conclusion: Nasal obstruction can lead to airway compromise and respiratory distress. Congenital bony nasal deformities are being recognized as an important cause of newborn airway obstruction. Nasal hypoplasia is seen in many craniofacial syndromes. Although our patient had hypoplastic nostrils with respiratory distress due to bilateral coanal atresia, correction of hypoplastic nostrils was necessary for completing the operation of choanal atresia.

  13. Bilateral breast carcinoma: results with breast conservation therapy and a comparison with bilateral mastectomy

    International Nuclear Information System (INIS)

    Kim, David H.; Haffty, Bruce G.

    1996-01-01

    Purpose: To assess outcome of patients with bilateral breast carcinoma treated with bilateral breast conserving surgery with radiation therapy (CS+RT) and to compare their outcome to (1) patients with unilateral disease treated with CS+RT and (2) patients of comparable stage treated with bilateral mastectomy. Methods and Materials: The charts of all patients with the diagnosis of breast cancer treated with CS+RT at our facilities prior to 1993 were reviewed to identify patients with bilateral disease. A total of 50 patients identified as having bilateral breast cancer conservatively treated(BCT) served as the index population. Out of the 50 patients, 23 presented with synchronous bilateral breast cancer and 27 presented with metachronous bilateral breast cancer. A group of 984 patients with unilateral breast cancer (UCT) treated with CS+RT during the same time interval served as the first control group. A second control group was comprised of 42 patients with early stage bilateral breast cancer presenting during the same time interval treated with bilateral mastectomy (BMAST). Patients who had locally advanced disease in either breast or those patients treated exclusively for lobular carcinoma in situ in either breast were excluded from the analysis. Of the 42 BMAST patients, 33 presented with synchronous disease and nine presented with metachronous disease. Local-regional relapse rates were calculated from the date of treatment of each breast. Overall survival and distant relapse rates were calculated from the date of treatment of the second breast cancer diagnosed. Survival curves were calculated via the life table method and statistical comparisons between curves were performed using the log rank statistic. Chi square analysis was used to detect differences between categorical variables. Results: As of December 1995, the median follow-up of the bilateral conservatively treated patient population was 9.4 years. No statistically significant differences were noted

  14. Bartsocas-Papas syndrome with internal anomalies: evidence for a more generalized epithelial defect or new syndrome?

    NARCIS (Netherlands)

    Hennekam, R. C.; Huber, J.; Variend, D.

    1994-01-01

    We report on two Dutch sibs with external anomalies compatible with Bartsocas-Papas syndrome, who also had internal anomalies: bilateral renal agenesis in one, and esophageal atresia, hypoplastic diaphragma, unilateral renal agenesis, agenesis of the shaft of the penis, and anal atresia in the other

  15. Comparison of classical and affinity purification techniques of Mason-Pfizer monkey virus capsid protein: The Alteration of the product by an affinity tag

    Czech Academy of Sciences Publication Activity Database

    Rumlová, Michaela; Benedíková, Jitka; Cubínková, Romana; Pichová, Iva; Ruml, Tomáš

    2001-01-01

    Roč. 23, - (2001), s. 75-83 ISSN 1046-5928 R&D Projects: GA ČR GA203/00/1005 Institutional research plan: CEZ:AV0Z4055905 Keywords : Mason-Pfizer monkey virus * capsid protein Subject RIV: CE - Biochemistry Impact factor: 1.497, year: 2001

  16. MR imaging appearance of laryngeal atresia (congenital high airway obstruction syndrome): unique course in a fetus

    Energy Technology Data Exchange (ETDEWEB)

    Kuwashima, Shigeko; Kitajima, Kazuhiro; Kaji, Yasushi [Dokkyo Medical University, Department of Radiology, Mibu, Shimotsuga-gun, Tochigi (Japan); Watanabe, Hiroshi [Dokkyo Medical University, Department of Obstetrics and Gynecology, Mibu (Japan); Watabe, Yoshiyuki; Suzumura, Hiroshi [Dokkyo Medical University, Department of Pediatrics, Mibu (Japan)

    2008-03-15

    Congenital high airway obstruction syndrome (CHAOS) is a rare life-threatening syndrome. Most cases are diagnosed prenatally by US. We report a fetus with this syndrome that showed a unique course revealed on MRI. Ultrasonography at 22 weeks demonstrated that the fetus had ascites and bilaterally enlarged hyperechoic lungs. Congenital infection, congenital cystic adenomatoid malformation or CHAOS was suspected. Subsequent MRI performed at 24 weeks demonstrated bilaterally enlarged high-signal lungs, dilated bronchi, massive ascites, subcutaneous oedema and polyhydramnios. MRI confirmed the diagnosis of CHAOS. A second MRI at 35 weeks showed that the bilateral lung enlargement, ascites, oedema and polyhydramnios had resolved, but that the appearance of the airway was unchanged. The infant was delivered by caesarean section at 38 weeks of gestation and immediate tracheostomy was performed. This spontaneous regression was explained by a tracheo-oesophageal fistula that may have decreased the intrathoracic pressure. (orig.)

  17. MR imaging appearance of laryngeal atresia (congenital high airway obstruction syndrome): unique course in a fetus

    International Nuclear Information System (INIS)

    Kuwashima, Shigeko; Kitajima, Kazuhiro; Kaji, Yasushi; Watanabe, Hiroshi; Watabe, Yoshiyuki; Suzumura, Hiroshi

    2008-01-01

    Congenital high airway obstruction syndrome (CHAOS) is a rare life-threatening syndrome. Most cases are diagnosed prenatally by US. We report a fetus with this syndrome that showed a unique course revealed on MRI. Ultrasonography at 22 weeks demonstrated that the fetus had ascites and bilaterally enlarged hyperechoic lungs. Congenital infection, congenital cystic adenomatoid malformation or CHAOS was suspected. Subsequent MRI performed at 24 weeks demonstrated bilaterally enlarged high-signal lungs, dilated bronchi, massive ascites, subcutaneous oedema and polyhydramnios. MRI confirmed the diagnosis of CHAOS. A second MRI at 35 weeks showed that the bilateral lung enlargement, ascites, oedema and polyhydramnios had resolved, but that the appearance of the airway was unchanged. The infant was delivered by caesarean section at 38 weeks of gestation and immediate tracheostomy was performed. This spontaneous regression was explained by a tracheo-oesophageal fistula that may have decreased the intrathoracic pressure. (orig.)

  18. Bilateral CT-guided percutaneous cordotomy for cancer pain relief

    Energy Technology Data Exchange (ETDEWEB)

    Yegul, I. E-mail: iyegul@med.ege.edu.tr; Erhan, E. E-mail: elvanerhan@yahoo.com

    2003-11-01

    AIM: CT-guided percutaneous cordotomy is a useful procedure for treating unilateral cancer pain, however, bilateral cordotomy can be required on some occasions. We evaluated the effectiveness and complications of bilateral cordotomy. MATERIALS AND METHODS: Two hundred and thirty-four patients who suffered from unilateral cancer pain underwent CT-guided percutaneous cordotomy. The procedure was repeated in 22 patients, and nine patients had bilateral cordotomy. Effectiveness and complications were recorded after each procedure. RESULTS: Of nine patents (three women and six men) having bilateral percutaneous cordotomy in our study, four patients had mirror pain after the first procedure. In the remaining five patients the contralateral pain was due to new pain sites. The pain scores before and after the first procedure were 9.3 (range 7-10) and 1.2 (range 0-3), respectively. After the first procedure complete or satisfactory pain relief was achieved in all patients. The duration between the two procedures ranged from 7-243 days (mean 59.8 days). The pain scores before and after the second procedure were 8.4 (range 5-10) and 1.6 (range 0-4), respectively. After the second procedure complete or satisfactory pain relief was reported in all patients. There were no complications in four patients. One patient developed transient motor deficit after the first procedure. Other complications (nausea/vomiting, headache, ipsilateral neck pain, postcordotomy dysesthesia) were mild and transient. CONCLUSION: CT-guided percutaneous cordotomy is a useful procedure for the treatment of severe unilateral cancer pain syndromes. The procedure can be repeated on the other side at least 1 week later. These results show that the success on the second side appears to be similar to the first side with low complication rate for both procedures.

  19. Bilateral reorganization of the dentate gyrus in hippocampal sclerosis

    Science.gov (United States)

    Thom, M; Martinian, L; Catarino, C; Yogarajah, M; Koepp, M J.; Caboclo, L; Sisodiya, S M.

    2009-01-01

    Background: Hippocampal sclerosis (HS) is the most common surgical pathology associated with mesial temporal lobe epilepsy (MTLE). HS is typically characterized by mossy fiber sprouting (MFS) and reorganization of neuropeptide Y (NPY) fiber networks in the dentate gyrus. One potential cause of postoperative seizure recurrence following temporal lobe surgery may be the presence of seizure-associated bilateral hippocampal damage. We aimed to investigate patterns of hippocampal abnormalities in a postmortem series as identified by NPY and dynorphin immunohistochemistry. Methods: Analysis of dentate gyrus fiber reorganization, using dynorphin (to demonstrate MFS) and NPY immunohistochemistry, was carried out in a postmortem epilepsy series of 25 cases (age range 21–96 years). In 9 patients, previously refractory seizures had become well controlled for up to 34 years prior to death. Results: Bilateral MFS or abnormal NPY patterns were seen in 15 patients including those with bilateral symmetric, asymmetric, and unilateral HS by conventional histologic criteria. MFS and NPY reorganization was present in all classical HS cases, more variably in atypical HS, present in both MTLE and non-MTLE syndromes and with seizure histories of up to 92 years, despite seizure remission in some patients. Conclusion: Synaptic reorganization in the dentate gyrus may be a bilateral, persistent process in epilepsy. It is unlikely to be sufficient to generate seizures and more likely to represent a seizure-induced phenomenon. GLOSSARY AED = antiepileptic drug; CA1p = CA1-predominant hippocampal sclerosis; CHS = classical hippocampal sclerosis; EFG = end folium gliosis; EFS = end folium sclerosis; GCD = granule cell dispersion; GCL = granule cell layer; HS = hippocampal sclerosis; MFS = mossy fiber sprouting; MTLE = mesial temporal lobe epilepsy; NPY = neuropeptide Y; ROI = region of interest; SE = status epilepticus; TLE = temporal lobe epilepsy. PMID:19710404

  20. Bilateral CT-guided percutaneous cordotomy for cancer pain relief

    International Nuclear Information System (INIS)

    Yegul, I.; Erhan, E.

    2003-01-01

    AIM: CT-guided percutaneous cordotomy is a useful procedure for treating unilateral cancer pain, however, bilateral cordotomy can be required on some occasions. We evaluated the effectiveness and complications of bilateral cordotomy. MATERIALS AND METHODS: Two hundred and thirty-four patients who suffered from unilateral cancer pain underwent CT-guided percutaneous cordotomy. The procedure was repeated in 22 patients, and nine patients had bilateral cordotomy. Effectiveness and complications were recorded after each procedure. RESULTS: Of nine patents (three women and six men) having bilateral percutaneous cordotomy in our study, four patients had mirror pain after the first procedure. In the remaining five patients the contralateral pain was due to new pain sites. The pain scores before and after the first procedure were 9.3 (range 7-10) and 1.2 (range 0-3), respectively. After the first procedure complete or satisfactory pain relief was achieved in all patients. The duration between the two procedures ranged from 7-243 days (mean 59.8 days). The pain scores before and after the second procedure were 8.4 (range 5-10) and 1.6 (range 0-4), respectively. After the second procedure complete or satisfactory pain relief was reported in all patients. There were no complications in four patients. One patient developed transient motor deficit after the first procedure. Other complications (nausea/vomiting, headache, ipsilateral neck pain, postcordotomy dysesthesia) were mild and transient. CONCLUSION: CT-guided percutaneous cordotomy is a useful procedure for the treatment of severe unilateral cancer pain syndromes. The procedure can be repeated on the other side at least 1 week later. These results show that the success on the second side appears to be similar to the first side with low complication rate for both procedures

  1. Bilateral first branchial cleft anomaly with evidence of a genetic aetiology.

    Science.gov (United States)

    Gonzalez-Perez, L M; Prats-Golczer, V E; Montes Carmona, J F; Heurtebise Saavedra, J M

    2014-03-01

    Anomalies of the first branchial cleft (FBC) are uncommon, and recognizing them can be difficult. Although present at birth, many cases do not become evident until later in childhood or adolescence, with an initial clinical presentation in adulthood being encountered only rarely. Typically, FBC anomalies present as a unilateral cyst, sinus, or fistula associated with the external auditory canal, or with swelling or an inflammatory opening in the peri-auricular/parotid area. They are commonly misdiagnosed and are often treated inadequately before being excised completely. A 40-year-old woman presented to the maxillofacial outpatient clinic with an episode of bilateral pre-auricular tumefaction, initially diagnosed as temporomandibular dysfunction syndrome. This was associated with bilateral pre-auricular pain that increased with mandibular movements. In relation to the patient's history, and given the bilateral presence of a pre-auricular pit, a diagnosis of FBC anomaly was made. Further investigation showed a related asymptomatic history in five other cases across four generations of the same family. The authors describe here the case, the diagnostic methodology, and the wide local excision technique used for removal of the branchial sinus. Copyright © 2013 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  2. Popliteal artery entrapment syndrome misdiagnosed as chronic ...

    African Journals Online (AJOL)

    A 21-year-old provincial rugby player complained of exercise- induced pain in both ... damage was present and after bilateral surgical release a few months apart he ... medial tibial stress syndrome, shin splints and stress fractures. Vascular ...

  3. A Clinical Observation on the Case of Cauda Equina Syndrome Using Scolopendrid Pharmacopuncture

    Directory of Open Access Journals (Sweden)

    Lee Hwi-yong

    2008-06-01

    Full Text Available Objective : This study was investigated on the Scolopendrid Pharmacopuncture of Caude equina syndrome which has been described as a complex of low back pain, bilateral sciatica, saddle anesthesia and motor weakness in the lower extremity that progress to paraplegia with baldder and bowel incontinence. Methods & Results : Clinical observation was done on Cauda equina syndrome in the Department of Acupuncture & Moxibustion, Woosuk jeonju Oriental Medical Hospital frome May 30 to July 13. The patient was treated with Scolopendrid Pharmacopuncture at Shinsu(B23, Gihaesu(B24, Taejangsu(B25, Gwanweonsu(b26, Dangryo(b31, Charyo(b32, Jang-gang(gv1 and Hoe-eum(cv1 with Oriental Medicine treatment. We evaluated SF-36, the bladder incontinence, bowel incontinence, sensibility by sting skin, before and after treatmeat. Conclusion : 1. At the early time, gait disturbance was treated well, but discomfort of bladder incontinence, bilateral sciatica, saddle anesthesia and motor weakness was remained. 2. The symptoms of Cauada equina syndrome, especially bladder incontinence and bilateral sciatica, was recurred in short duration by scolopendrid Pharmacopuncture and oriental medicine treatment.

  4. Annular and central heavy pigment deposition on the posterior lens capsule in the pigment dispersion syndrome: pigment deposition on the posterior lens capsule in the pigment dispersion syndrome.

    Science.gov (United States)

    Turgut, Burak; Türkçüoğlu, Peykan; Deniz, Nurettin; Catak, Onur

    2008-12-01

    To report annular and central heavy pigment deposition on the posterior lens capsule in a case of pigment dispersion syndrome. Case report. A 36-year-old female with bilateral pigment dispersion syndrome presented with progressive decrease in visual acuity in the right eye over the past 1-2 years. Clinical examination revealed the typical findings of pigment dispersion syndrome including bilateral Krunkenberg spindles, iris transillumination defects, and dense trabecular meshwork pigmentation. Remarkably, annular and central dense pigmentation of the posterior lens capsule was noted in the right eye. Annular pigment deposition on the posterior lens capsule may be a rare finding associated with pigment dispersion syndrome. Such a finding suggests that there may be aqueous flow into the retrolental space in some patients with this condition. The way of central pigmentation is the entrance of aqueous to Berger's space. In our case, it is probable that spontaneous detachment of the anterior hyaloid membrane aided this entrance.

  5. Gene p63: In ectrodactyly-ectodermal dysplasia clefting, ankyloblepharon-ectodermal dysplasia, Rapp-Hodgkin syndrome.

    Science.gov (United States)

    van Straten, Cornelia; Butow, Kurt-W

    2013-01-01

    An analysis was made of three different syndromes associated with p63 gene mutations, known as ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC), ankyloblepharon-ectodermal dysplasia clefting syndrome (AEC or Hay-Wells) and Rapp-Hodgkin syndrome (RHS). The postoperative complications associated with their cleft reconstructions were also evaluated. Extensive demographic information, in particular of the clinical appearances, associated malformations, and the types and complications of the reconstructive surgical procedures, were recorded of these syndromic cases occurring in a database of 3621 facial cleft deformity patients. The data was analyzed using the Microsoft Excel program. A total of 10 (0.28%) cases of p63 associated syndromes were recorded: EEC (6), RHS (3), and AEC (1). The following clinical cleft appearances were noted - EEC = 6: CLA 1 -right side unilateral (female); CLAP 4 - right side (1) + left side (1) unilateral (male + female); bilateral (2) (males); hPsP 1 (female) (divided in 3 Black, 2 White, 1 Indian); RHS = 3: CLAP 2 (White males); hPsP 1 (White female); AEC = 1: CLAP bilateral (White male). Other features of the syndromes were: skin, hand, foot, tooth, hair and nail involvement, and light sensitivity. Postoperative complications included: (i) stenosis of nasal opening, especially after reconstruction of the bilateral cleft lip and the columella lengthening (2 cases), (ii) premaxilla-prolabium fusion (2 cases), (iii) repeated occurrence of oro-nasal fistula in the hard palate (4 cases), and (iv) dysgnathial development of midfacial structures (3 cases). Three different p63 associated syndromes (EEC, AEC, and RHS) were diagnosed (0.27% of the total facial cleft deformities database). The majority of the cases presented with a bilateral CLAP in males only. A number of females and males had unilateral CLA. The hPsP-cleft was recorded in females only. The associated ectodermal component most probably had a profoundly negative influence

  6. VizieR Online Data Catalog: The Washington Visual Double Star Catalog (Mason+ 2001-2014)

    Science.gov (United States)

    Mason, B. D.; Wycoff, G. L.; Hartkopf, W. I.; Douglass, G. G.; Worley, C. E.

    2018-05-01

    The Washington Visual Double Star Catalog (WDS) is the successor to the Index Catalogue of Visual Double Stars, 1961.0 (IDS; Jeffers and van den Bos, Publ. Lick Obs. 21). Three earlier double star catalogs in XXth century, those by Burnham (BDS, 1906, "General Catalogue of Double Stars within 121 degrees of the North Pole", Carnegie Institution of Washington), Innes (SDS, 1927, "Southern Double Star Catalogue -19 to -90 degrees", Union Observatory, Johannesburg, South Africa), and Aitken (ADS, 1932 "New General Catalogue of Double Stars within 121 degrees of the North Pole", Carnegie Institution of Washington), each covered only a portion of the sky. Both the IDS and the WDS cover the entire sky, and the WDS is intended to contain all known visual double stars for which at least one differential measure has been published. The WDS is continually updated as published data become available. Prior to this, three major updates have been published (Worley and Douglass 1984, "Washington Visual Double Star Catalog, 1984.0", U.S. Naval Observatory, Washington; Worley and Douglass 1997A&AS..125..523W, Cat. I/237; Mason, Wycoff, Hartkopf, Douglass and Worley 2001AJ....122.3466M; and Mason et al. 2006.5). The Washington Double Star Catalog (WDS) has seen numerous changes since the last major release of the catalog. The application of many techniques and considerable industry over the past few years has yielded significant gains in both the number of systems and the number of measures. Is is maintained by the US Naval Observatory, and represents the world's principal database of astrometric double and multiple star information. The WDS contains positions (J2000), discoverer designations, epochs, position angles, separations, magnitudes, spectral types, proper motions, and, when available, Durchmusterung numbers and notes for the components of the systems. (3 data files).

  7. Bilateral herpes zoster

    OpenAIRE

    Singh K; Bajaj A; Dwivedi N; Merchery A

    1993-01-01

    A case of bilateral herpes zoster of lumbosacral region is reported in association with diabetes mellitus in a 55 years old female. The case is of interest due to bilateral distribution which is rare and sacral region involvement which is quite uncommon.

  8. Implementing the clinical nurse leader role using the Virginia Mason Production System.

    Science.gov (United States)

    Tachibana, Charleen; Nelson-Peterson, Dana L

    2007-11-01

    More than 90 members of the American Association of Colleges of Nursing and 190 practice sites have partnered to develop the clinical nurse leader (CNL) role. The partnership has created synergy between education and practice and nurtured innovation and diffusion of learning on a national basis. In this ongoing department, the editor, Jolene Tornabeni, MA, RN, FAAN, FACHE, showcases a variety of nurse leaders who discuss their new patient care delivery models in preparation for the CNL role and CNLs who highlight partnerships with their clinical colleagues to improve patient care. In this article, the authors discuss the needs for changes in the nursing care delivery model, the implementation of the role of the CNL using the tools of the Virginia Mason Production System, as well as early outcomes and future opportunities for the expansion of the CNL role.

  9. Bilateral Testicular Tumors Resulting in Recurrent Cushing Disease After Bilateral Adrenalectomy

    NARCIS (Netherlands)

    Puar, T.; Engels, M.; Herwaarden, A.E. van; Sweep, F.C.; Hulsbergen-van de Kaa, C.A.; Kamphuis-van Ulzen, K.; Chortis, V.; Arlt, W.; Stikkelbroeck, N.; Claahsen-van der Grinten, H.L.; Hermus, A.R.M.M.

    2017-01-01

    Context: Recurrence of hypercortisolism in patients after bilateral adrenalectomy for Cushing disease is extremely rare. Patient: We present a 27-year-old man who previously underwent bilateral adrenalectomy for Cushing disease with complete clinical resolution. Cushingoid features recurred 12 years

  10. [Roberts-SC phocomelia syndrome].

    Science.gov (United States)

    Musfeld, D A; Bühler, E M; Heinzl, S

    2001-01-01

    The Roberts-SC phocomelia syndrome is a rare autosomal recessive inherited disorder clinically manifested by tetraphocomelia, pre- and postnatal growth retardation, and craniofacial abnormalities (skull, eyes, lip, and palate), accompanied at times by centromer puffing and splitting, renal abnormalities, heart defect, clitoral or penile enlargement, and bilateral corneal opacities. Mental retardation is common in surviving patients.

  11. Kartagener's Syndrome.

    Science.gov (United States)

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

    2009-01-01

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

  12. Bilateral herpes zoster

    Directory of Open Access Journals (Sweden)

    Singh K

    1993-01-01

    Full Text Available A case of bilateral herpes zoster of lumbosacral region is reported in association with diabetes mellitus in a 55 years old female. The case is of interest due to bilateral distribution which is rare and sacral region involvement which is quite uncommon.

  13. [Problem and assignment for distinguishing the Usher syndrome type].

    Science.gov (United States)

    Iwasaki, Satoshi; Yoshimura, Hidekane; Takeichi, Norito; Satou, Hiroaki; Ishikawa, Kotaro; Kaga, Kimitaka; Kumakawa, Kozou; Nagai, Kyoko; Furuya, Nobuhiko; Ikezono, Tetsuo; Nakanishi, Hiroshi; Naitou, Yasu; Fukushima, Kunihiro; Tono, Tetsuya; Kimitsuki, Takashi; Nishio, Shinya; Takumi, Yutaka; Usami, Shinichi

    2012-10-01

    Usher syndrome is an autosomal-recessive disorder that causes bilateral sensorineural hearing loss, retinitis pigmentosa (RP), and occasionally vestibular dysfunction. Usher syndrome types 1, 2, and 3 can be distinguished by differences in audiovestibular features. The objectives of this retrospective study were to evaluate 26 patients with Usher syndrome clinically. The 26 patients (male: 12 cases, female: 14 cases) with Usher syndrome, with a clinical diagnosis based on symptoms of bilateral sensorineural hearing loss and RP, had been registered from 13 hospitals as a multicenter study. We assessed the clinical history and performed audiovestibular and ophthalmologic examinations, and genetic testing. Eleven of the patients were classified as having Usher type 1 (38.5%), 6 with Usher type 2 (23.1%), and 9 with Usher type 3 (38.5%). However, many patients with atypical Usher type 1 (70%) and type 2 (83.3%) were found compared with Usher type 3 (10%). The conductive rate of vestibular examinations including the caloric test (50%) was low. There were many variations in the clinical symptoms in Usher syndrome patients, therefore the classification of Usher types 1, 2, and 3 has been complicated. We have proposed a flowchart for the diagnosis of Usher types 1, 2, and 3.

  14. Evaluation of Significance of Diffusely Increased Bilateral Renal Uptake on Bone Scan

    International Nuclear Information System (INIS)

    Sung, Mi Sook; Yang, Woo Jin; Byun, Jae Young; Park, Jung Mi; Shinn, Kyung Sub; Bahk, Yong Whee

    1990-01-01

    Unexpected renal abnormality can be detected on bone scan using 99m Tc-MDP. The purpose of the study is to evaluate the diagnostic significance of diffusely increased bilateral renal uptake on bone scan. 1,500 bone scan were reviewed and 43 scans which showed diffusely increased bilateral renal uptake were selected for analysis. Laboratory findings for renal and liver function tests including routine urinalysis were reviewed in 43 patients. 26 of 43 case showed abnormality in urinalysis and renal function study. 20 of 43 cases showed abnormal liver function study and 3 of these cases were diagnosed as hepatorenal syndrome later. 13 of those 20 cases had liver cirrhosis with or without hepatoma. 12 of 43 cases showed abnormality both in renal and liver function studies. 2 of 43 cases showed diffusely increased bilateral renal uptake after chemotherapy for cancer but not on previous scans before chemotherapy. 2 of 43 cases showed hypercalcaemia and 8 of 43 cases had multifocal bone uptake due to metastasis or benign bone lesion. But the latter showed no hypercalcaemia at all. There was no significant correlation between increased renal uptake and MDP uptake in soft tissue other than kidneys. This study raised the possibility that the impaired liver and/or renal function may result in diffuse increase of bilateral renal uptake of MDP of unknown mechanism. It seems to need further study on this correlation.

  15. Evaluation of Significance of Diffusely Increased Bilateral Renal Uptake on Bone Scan

    Energy Technology Data Exchange (ETDEWEB)

    Sung, Mi Sook; Yang, Woo Jin; Byun, Jae Young; Park, Jung Mi; Shinn, Kyung Sub; Bahk, Yong Whee [Catholic University College of Medicine, Seoul (Korea, Republic of)

    1990-03-15

    Unexpected renal abnormality can be detected on bone scan using {sup 99m}Tc-MDP. The purpose of the study is to evaluate the diagnostic significance of diffusely increased bilateral renal uptake on bone scan. 1,500 bone scan were reviewed and 43 scans which showed diffusely increased bilateral renal uptake were selected for analysis. Laboratory findings for renal and liver function tests including routine urinalysis were reviewed in 43 patients. 26 of 43 case showed abnormality in urinalysis and renal function study. 20 of 43 cases showed abnormal liver function study and 3 of these cases were diagnosed as hepatorenal syndrome later. 13 of those 20 cases had liver cirrhosis with or without hepatoma. 12 of 43 cases showed abnormality both in renal and liver function studies. 2 of 43 cases showed diffusely increased bilateral renal uptake after chemotherapy for cancer but not on previous scans before chemotherapy. 2 of 43 cases showed hypercalcaemia and 8 of 43 cases had multifocal bone uptake due to metastasis or benign bone lesion. But the latter showed no hypercalcaemia at all. There was no significant correlation between increased renal uptake and MDP uptake in soft tissue other than kidneys. This study raised the possibility that the impaired liver and/or renal function may result in diffuse increase of bilateral renal uptake of MDP of unknown mechanism. It seems to need further study on this correlation.

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

    Directory of Open Access Journals (Sweden)

    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.

  17. Bilateral disease and new trends in Wilms tumour

    Energy Technology Data Exchange (ETDEWEB)

    Owens, Catherine M.; Olsen, Oeystein E. [Great Ormond Street Hospital for Children NHS Trust, Department of Radiology, London (United Kingdom); Brisse, Herve J. [Institut Curie, Service de Radiodiagnostic, Paris (France); Begent, Joanna [University College Hospital, Paediatric Oncology, London (United Kingdom); Smets, Anne M. [Academic Medical Center Amsterdam, Department of Radiology, Amsterdam (Netherlands)

    2008-01-15

    Wilms tumour is a great therapeutic success story within paediatric oncology; its prognosis is excellent. Although mainly sporadic, occurring in otherwise well children, it occurs in a small number of genetically predisposed children. Thus regular surveillance imaging is performed in predisposed children in parts of the USA and Europe. The risks and benefits of surveillance are unclear, as the existing ad-hoc surveillance protocols are lacking in consistency of practice and equity of provision. We present guidelines for Wilms tumour surveillance based on a review of current practice and available evidence, outlined by a multidisciplinary working group in the UK. Wilms tumours are bilateral in 4-13% of affected children. Bilateral synchronous nephroblastomas are observed in 5% of affected children and are usually associated with the presence of nephrogenic rests, congenital malformations and predisposing syndromes. The major challenge in bilateral disease is to achieve a cure and at the same time to preserve sufficient functional renal tissue for normal growth and development. The association among Wilms tumour, nephrogenic rests and nephroblastomatosis makes detection and characterization of renal lesions with imaging extremely important. We discuss the relative strengths and weaknesses of the different modalities used for diagnosis and follow-up in bilateral renal disease. We also discuss newly emerging diagnostic imaging tests such as {sup 18}F-fluorodeoxyglucose positron emission tomography (FDG-PET). This technique, when fused with CT (PET-CT), allows accelerated metabolic activity to be accurately anatomically localised and so is potentially useful for staging, assessment of treatment response, and for surgical and radiotherapy planning. In addition, quantitative MRI techniques have been proved to be valuable in intracranial tumours, but no such role has been validated in abdominal disease. Diffusion-weighted imaging with calculation of ADC maps is feasible in

  18. Bilateral disease and new trends in Wilms tumour

    International Nuclear Information System (INIS)

    Owens, Catherine M.; Olsen, Oeystein E.; Brisse, Herve J.; Begent, Joanna; Smets, Anne M.

    2008-01-01

    Wilms tumour is a great therapeutic success story within paediatric oncology; its prognosis is excellent. Although mainly sporadic, occurring in otherwise well children, it occurs in a small number of genetically predisposed children. Thus regular surveillance imaging is performed in predisposed children in parts of the USA and Europe. The risks and benefits of surveillance are unclear, as the existing ad-hoc surveillance protocols are lacking in consistency of practice and equity of provision. We present guidelines for Wilms tumour surveillance based on a review of current practice and available evidence, outlined by a multidisciplinary working group in the UK. Wilms tumours are bilateral in 4-13% of affected children. Bilateral synchronous nephroblastomas are observed in 5% of affected children and are usually associated with the presence of nephrogenic rests, congenital malformations and predisposing syndromes. The major challenge in bilateral disease is to achieve a cure and at the same time to preserve sufficient functional renal tissue for normal growth and development. The association among Wilms tumour, nephrogenic rests and nephroblastomatosis makes detection and characterization of renal lesions with imaging extremely important. We discuss the relative strengths and weaknesses of the different modalities used for diagnosis and follow-up in bilateral renal disease. We also discuss newly emerging diagnostic imaging tests such as 18 F-fluorodeoxyglucose positron emission tomography (FDG-PET). This technique, when fused with CT (PET-CT), allows accelerated metabolic activity to be accurately anatomically localised and so is potentially useful for staging, assessment of treatment response, and for surgical and radiotherapy planning. In addition, quantitative MRI techniques have been proved to be valuable in intracranial tumours, but no such role has been validated in abdominal disease. Diffusion-weighted imaging with calculation of ADC maps is feasible in

  19. A Novel Mutation on RAF1 in Association with Fetal Findings Suggestive of Noonan Syndrome.

    Science.gov (United States)

    Kneitel, Anna W; Norby, Audrey; Vettraino, Ivana; Treadwell, Marjorie C

    2015-01-01

    Noonan syndrome is a multisystem genetic disorder caused by genes encoding proteins involved in the RAS-MAPK pathway. Affected fetuses have variable presentations ranging from the absence of prenatal findings to increased nuchal fold, cystic hygromas, pleural effusions, cardiac malformations, or skin edema. We describe a male fetus who had features consistent with Noonan syndrome at the time of fetal anatomic survey, including hydrops and a possible cardiac defect. Subsequent scan revealed persistent bilateral pleural effusions (with predominance of lymphocytes). After bilateral thoracoamniotic shunt placement, the fetus did well and delivered at term. Prenatal testing revealed an S650F missense mutation in the RAF1 gene, which had not previously been associated with Noonan syndrome.

  20. Bilateral breast carcinoma

    International Nuclear Information System (INIS)

    Kim, Eung Jo; Oh, Ki Keun

    1990-01-01

    We evaluate 311 breast cancer patients admitted to Yong Dong Severance Hospital Between October 1st 1985 and July 31th 1989, and were able to obtain the following conclusions. 1) There were 14(4.5%) bilateral breast cancers among the 311 confirmed breast cancers. 2) Among the bilateral breast cancers, 5(31%) were synchronous and 9(69%) metachronous. 3) Average interval between the first and the second breast cancer in metachronous cancers was 3.8 year(1-15 years). 4) Bilateral breast cancer was most prevalent in the fifth decade (6/14) with the mean age of 47 years. 5) Film mammogram and sonomammogram showed findings of typical breast malignancies. There was no additional specific findings for each cancer in bilateral breast cancers which was different from unilateral cancers. Therefor, in the patients with unilateral breast cancer, possibility of the second lesion in the contralateral side must be considered and a close follow up observation should be done for at least 3 years

  1. A SECOND CASE OF BILATERAL RHEGMATOGENOUS RETINAL DETACHMENTS REPAIRED WITH SIMULTANEOUS BILATERAL PNEUMATIC RETINOPEXY.

    Science.gov (United States)

    Rubin, Uriel; De Jager, Cornelis; Zakour, Moayed; Gonder, J Thomas

    2017-01-01

    To present a case of a patient with simultaneous bilateral retinal detachments treated successfully with bilateral pneumatic retinopexy. Case report. This is a case of an otherwise healthy 49-year-old woman with no remarkable ocular history that presented with simultaneous phakic superior bilateral rhegmatogenous retinal detachments. Treatment on the day of presentation included laser retinopexy of the inferior lattice degeneration in the left eye and bilateral intravitreal injection of 0.4 cc of 100% C3F8 gas preceded by topical anesthesia. After 48 hours, both retinas were completely reattached, and bilateral laser retinopexy was performed to the superior tears. After a review of the literature, the authors could find only two reported cases of simultaneous bilateral retinal detachments treated successfully with pneumatic retinopexy. This is not only a cost-effective procedure but also allows treatment when there is no immediate operating room availability or a when a quick referral for surgery is not possible.

  2. Acute respiratory failure following ovarian hyperstimulation syndrome

    Directory of Open Access Journals (Sweden)

    Antonello Nicolini

    2013-03-01

    Full Text Available Ovarian hyperstimulation syndrome is a serious and potentially life-threatening physiological complication that may be encountered in patients who undergo controlled ovarian hyperstimulation cycles. The syndrome is typically associated with regimes of exogenous gonadotropins, but it can be seen, albeit rarely, when clomiphene is administered during the induction phase. Although this syndrome is widely described in scientific literature and is well known by obstetricians, the knowledge of this pathological and potentially life-threatening condition is generally less than satisfactory among physicians. The dramatic increase in therapeutic strategies to treat infertility has pushed this condition into the realm of acute care therapy. The potential complications of this syndrome, including pulmonary involvement, should be considered and identified so as to allow a more appropriate diagnosis and management. We describe a case of a woman with an extremely severe (Stage 6 ovarian hyperstimulation syndrome who presented ascites, bilateral pleural effusion and severe respiratory failure treated with non-invasive ventilation. The patient was admitted to the intensive care unit because of severe respiratory failure, ascites, and bilateral pleural effusion due to ovarian hyperstimulation syndrome. Treatment included non-invasive ventilation and three thoracentesis procedures, plus the administration of albumin, colloid solutions and high-dose furosemid. Severe form of ovarian hyperstimulation syndrome is observed in 0.5-5% of the women treated, and intensive care may be required for management of thromboembolic complications, renal failure and severe respiratory failure. Pulmonary intensive care may involve thoracentesis, oxygen supplementation and, in more severe cases, assisted ventilation. To our knowledge, there have been only two studies in English language medical literature that describe severe respiratory failure treated with non

  3. Surgical management of Gerhardt syndrome.

    Science.gov (United States)

    Chirilă, M; Mureşan, R; Cosgarea, M; Tomescu, E

    2010-01-01

    Adduction bilateral vocal fold immobility syndrome may be due by both recurrent laryngeal nerves paralysis--Gerhardt syndrome--and all intrinsic laryngeal muscles paralysis--Riegel syndrome. Etiology of Gerhardt syndrome is thyroid surgery, intubation's maneuver, trauma, neurological disorders, extrala-ryngeal malignancies. The manifestations of Gerhardt syndrome are inspiratory dyspnea and slightly influenced voicing by paramedian vocal folds paralysis with an important narrowing of the airway at the glottic level. The surgical procedures for enlargement of the glottic space can be classified in many ways and their major characteristics are: changes at the glottic level; surgical approach: open neck or endoscopic, with or without opening of the mucosal lining; the need for tracheostomy; the equipment used. The aim of this review is to expound the variety of interventions through the last century marked by the development of the diagnostic methods, the anesthesia and the surgical armament with sophisticated instruments and technologies.

  4. Pneumomediastinum and bilateral pneumothorax following near drowning in shallow water

    Directory of Open Access Journals (Sweden)

    Santhiya Govindaraj

    2011-10-01

    Full Text Available We report pneumomediastinum, bilateral pneumothorax and acute respiratory distress syndrome in a victim of near drowning who was intoxicated and did not have thoracic or neck trauma. Chest radiograph revealed the above findings, later confirmed by computed tomography. He was in shock and also had gastrointestinal (GI bleeding and renal dysfunction. With adequate resuscitative measures including fluids, blood transfusions, intercostal tube drainage and mechanical ventilation he made a complete recovery. Good prognostic indicators in near drowning patients include higher Glasgow Coma Scale, short submersion time and quick resuscitative measures even in the presence of serious cardiorespiratory or hemodynamic compromise.

  5. Pneumomediastinum and bilateral pneumothorax following near drowning in shallow water

    Directory of Open Access Journals (Sweden)

    Stalin Viswanathan

    2011-09-01

    Full Text Available We report pneumomediastinum, bilateral pneumothorax and acute respiratory distress syndrome in a victim of near drowning who was intoxicated and did not have thoracic or neck trauma. Chest radiograph revealed the above findings, later confirmed by computed tomography. He was in shock and also had gastrointestinal (GI bleeding and renal dysfunction. With adequate resuscitative measures including fluids, blood transfusions, intercostal tube drainage and mechanical ventilation he made a complete recovery. Good prognostic indicators in near drowning patients include higher Glasgow Coma Scale, short submersion time and quick resuscitative measures even in the presence of serious cardiorespiratory or hemodynamic compromise.

  6. Goldenhar syndrome with unusual features.

    Science.gov (United States)

    Mehta, Bijal; Nayak, Chitra; Savant, Shankar; Amladi, Sangeeta

    2008-01-01

    We report here the case of a 17 year-old girl with the classic signs of Goldenhar syndrome in the form of multiple accessory tragi, bilateral ocular dermoids, mandibular hypoplasia (micrognathia) and cervical lordosis. She also had a high arched palate, gingival hypertrophy and malaligned teeth, features which are as yet unreported.

  7. A rare case of short stature: Say Meyer syndrome

    Directory of Open Access Journals (Sweden)

    T S Karthik

    2013-01-01

    Full Text Available Introduction: Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. We are reporting a case of Say Meyer syndrome presented to our hospital for short stature and developmental delay at age 3½ years. Case Report: A 3½-year-old boy presented to our hospital for decreased growth velocity from the age of 1 year. History revealed the boy had a birth weight of 2.3 kg, had an episode of seizures in the neonatal period. He was born to non-consanguineous marriage. He had global developmental delay and there was a lack of bowel and bladder control. History did not reveal any hearing or visual impairment. No history of any chronic systemic illnesses. Magnetic resonance imaging (MRI brain revealed mild diffuse frontotemporal atrophy with multiple irregular gliotic areas in bilateral frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres. Diffuse thinning of corpus callosum. Diffuse periventricular hyper intensity on T2W and fluid attenuated inversion recovery sequences. Conclusion: Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. Characteristic MRI brain findings include diffuse frontotemporal atrophy with multiple gliotic areas in frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres.

  8. Kearns-Sayre syndrome

    Directory of Open Access Journals (Sweden)

    Kavita R Bhatnagar

    2014-01-01

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

  9. Ellis-van Creveld syndrome with facial hemiatrophy

    Directory of Open Access Journals (Sweden)

    Bhat Yasmeen

    2010-01-01

    Full Text Available Ellis-van Creveld (EVC syndrome is a rare autosomal recessive congenital disorder characterized by chondrodysplasia and polydactyly, ectodermal dysplasia and congenital defects of the heart. We present here a case of a 16-year-old short-limbed dwarf with skeletal deformities and bilateral postaxial polydactyly, dysplastic nails and teeth, also having left-sided facial hemiatrophy. The diagnosis of EVC syndrome was made on the basis of clinical and radiological features. To the best of our knowledge, this is the first report of EVC syndrome with facial hemiatrophy in the medical literature from India.

  10. Unilateral glaucoma in Sotos syndrome (cerebral gigantism).

    Science.gov (United States)

    Yen, M T; Gedde, S J; Flynn, J T

    2000-12-01

    To report a patient with unilateral glaucoma associated with Sotos syndrome. Sotos syndrome (cerebral gigantism) is a disorder of growth and development with characteristic facial changes and normal endocrine function. Ocular manifestations may also include megalocornea, iris hypoplasia, cataracts, megalophthalmos, strabismus, nystagmus, and retinal dystrophy. Case report. A 50 year-old man with the clinical features of Sotos syndrome presented with complaints of decreased vision in the left eye. Ophthalmologic examination revealed bilateral megalocornea, megalophthalmos, iris hypoplasia and transillumination defects, cataracts, and unilateral glaucoma. Intraocular pressure was lowered, and visual field loss was stabilized with topical medications. Sotos syndrome patients should be examined routinely to allow for early detection and treatment of potential ocular problems, including glaucoma.

  11. PATELLAR REALIGNMENT AND FUNCTIONAL PERFORMANCE IN PATIENTS WITH PATELLOFEMORAL PAIN SYNDROME

    Directory of Open Access Journals (Sweden)

    Abeer Farag Hanafy

    2016-02-01

    Full Text Available Background: Patellar taping is used for pain relief in patients with patello-femoral pain syndrome (PFPS. Yet, there is lack of knowledge regarding its effect on the functional performance. The purpose of the study was to examine the effects of therapeutic patellar taping on the Visual Analogue Scale (VAS pain scores, number of bilateral squats, and stair climbing time in patients with PFPS. Methods: 30 female patients with PFPS with mean age 20.3± 1.46 years, weight 66.1± 9.68 kg, height 165.83 ± 3.89 cm and BMI 23.91 ± 3.50kg/m2 participated in the study. The subjects were tested randomly under three taping conditions;namely therapeutic, placebo and no-tape. The tested limb was determined to be the affected limb in patients with unilateral affection, and the symptomatic limb in patients with bilateral affection. Data was collected using the Visual Analogue Scale (VAS, Bilateral Squat Test and Timed Stair Ambulation Test. Results: Repeated measures Multivariate Analysis of Variance (MANOVA revealed that the number of bilateral squats increased significantly (p0.05 in between for the number of bilateral squats and stair climbing time. Conclusion: The findings indicated that therapeutic patellar taping is effective in improving functional performance and reducing pain in patients with patellofemoral pain syndrome (PFPS.

  12. The usefulness of bone scintigraphy in SAPHO syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Lim, Seok Tae; Sohn, Myung Hee [School of Medicine, Chonbuk National Univ., Chonju (Korea, Republic of)

    2002-08-01

    SAPHO syndrome is well known to various disease entities including synovitis, acne, pustulosis, hyperostosis and polyarthritis. The purpose of this study is to evaluate sicntigraphic findings and to compare with radiologic findings in SAPHO syndrome. Five patients (M:F=5:0, Age 22.8{+-}4.78 yrs) with SAPHO syndrome were enrolled in our study. All patients underwent whole-body bone scintigraphy with intravenous administration of 740 MBq of Tc-99m MDP. Among them, two patients were additionally perfomed SPECT of the spine to evaluate the location and extent of spinal lesion. All patients were demonstrated abnormal increased uptakes in sternoclavicular joint (SC), sacroiliac joint (SI), and small joints of both hands. Among them, three patients were bilateral involvement (3/5) and two were unilateral (2/5) in SC. Involvement of SI showed bilateral in four patients (4/5) and unilateral in one (1/5). SPECT images demonstrate that the lesion sites of the lumbar spine are more likely facet joints than vertebral bodies or pedicles. As SAPHO syndrome is the disease entity involved polyarticular joints with various dermatologic manifestations, the bone scintigraphy may be a very useful method to evaluate the location and extent of joint involvement, and to avoid inadequate surgical management or ineffective antibiotic treatment.

  13. Cochlear implantation in patient with Dandy-walker syndrome.

    Science.gov (United States)

    de Oliveira, Adriana Kosma Pires; Hamerschmidt, Rogerio; Mocelin, Marcos; Rezende, Rodrigo K

    2012-07-01

     Dandy Walker Syndrome is a congenital abnormality in the central nervous system, characterized by a deficiency in the development of middle cerebelar structures, cystic dilatation of the posterior pit communicating with the fourth ventricle and upward shift of the transverse sinuses, tentorium and dyes. Among the clinical signs are occipital protuberances, a progressive increase of the skull, bowing before the fontanels, papilledema, ataxia, gait disturbances, nystagmus, and intellectual impairment.  To describe a case of female patient, 13 years old with a diagnosis of this syndrome and bilateral hearing loss underwent cochlear implant surgery under local anesthesia and sedation.  CGS, 13 years old female was referred to the Otolaryngological Department of Otolaryngology Institute of Parana with a diagnosis of "Dandy-Walker syndrome" for Otolaryngological evaluation for bilateral hearing loss with no response to the use of hearing aids. Final Comments: The field of cochlear implants is growing rapidly. We believe that the presence of Dandy-Walker syndrome cannot be considered a contraindication to the performance of cochlear implant surgery, and there were no surgical complications due to neurological disorders with very favorable results for the patient who exhibits excellent discrimination. It has less need for lip reading with improvement in speech quality.

  14. Cochlear implantation in patient with Dandy-walker syndrome

    Directory of Open Access Journals (Sweden)

    Oliveira, Adriana Kosma Pires de

    2012-01-01

    Full Text Available Introduction: Dandy Walker Syndrome is a congenital abnormality in the central nervous system, characterized by a deficiency in the development of middle cerebelar structures, cystic dilatation of the posterior pit communicating with the fourth ventricle and upward shift of the transverse sinuses, tentorium and dyes. Among the clinical signs are occipital protuberances, a progressive increase of the skull, bowing before the fontanels, papilledema, ataxia, gait disturbances, nystagmus, and intellectual impairment. Objectives: To describe a case of female patient, 13 years old with a diagnosis of this syndrome and bilateral hearing loss underwent cochlear implant surgery under local anesthesia and sedation. Case Report: CGS, 13 years old female was referred to the Otolaryngological Department of Otolaryngology Institute of Parana with a diagnosis of "Dandy-Walker syndrome" for Otolaryngological evaluation for bilateral hearing loss with no response to the use of hearing aids. Final Comments: The field of cochlear implants is growing rapidly. We believe that the presence of Dandy-Walker syndrome cannot be considered a contraindication to the performance of cochlear implant surgery, and there were no surgical complications due to neurological disorders with very favorable results for the patient who exhibits excellent discrimination. It has less need for lip reading with improvement in speech quality.

  15. Goldenhar syndrome with unusual features

    Directory of Open Access Journals (Sweden)

    Mehta Bijal

    2008-01-01

    Full Text Available We report here the case of a 17 year-old girl with the classic signs of Goldenhar syndrome in the form of multiple accessory tragi, bilateral ocular dermoids, mandibular hypoplasia (micrognathia and cervical lordosis. She also had a high arched palate, gingival hypertrophy and malaligned teeth, features which are as yet unreported.

  16. Reversible man-in-the-barrel syndrome in myasthenia gravis

    OpenAIRE

    Shah, Poornima A; Wadia, Pettarusp Murzban

    2016-01-01

    Man-in-the-barrel syndrome (MBS) is an uncommon presentation due to bilateral, predominantly proximal muscle weakness that has not been described to be associated with myasthenia gravis. We describe a case of myasthenia gravis presenting as MBS. Additionally, he had significant wasting of the deltoids bilaterally with fibrillations on electromyography (EMG) at rest and brief duration (3-6 ms) bi/triphasic motor unit potentials (MUPs) on submaximal effort apart from a decremental response on r...

  17. Van der Woude syndrome: Management in the mixed dentition

    OpenAIRE

    Sonahita Agarwal; M R Dinesh; R M Dharma; B C Amarnath

    2013-01-01

    This article presents the case of a patient with Van der Woude syndrome treated with orthodontic and orthopedic intervention in the mixed dentition stage. The patient had a bilateral cleft of the lip and alveolus accompanied by lip pits on the lower lip. Intra-orally, there was bilateral anterior and posterior cross-bite with a collapsed maxilla. The maxillary transverse deficiency was managed with orthopedic expansion and the second phase of treatment involved secondary alveolar bone graftin...

  18. Hennekam lymphangiectasia syndrome

    OpenAIRE

    Lakshminarayana, G.; Mathew, A.; Rajesh, R.; Kurien, G.; Unni, V. N.

    2011-01-01

    Hennekam lymphangiectasia syndrome is a rare disorder comprising of intestinal and renal lymphangiectasia, dysmorphic facial appearance and mental retardation. The facial features include hypertelorism with a wide, flat nasal bridge, epicanthic folds, small mouth and small ears. We describe a case of a multigravida with bad obstetric history and characteristic facial and dental anomalies and bilateral renal lymphangiectasia. To our knowledge this is the first case of Hennekam lymphangiectasia...

  19. Bilateral multicystic renal dysplasia with potter sequence: A case with penile agenesis

    International Nuclear Information System (INIS)

    Dursun, Ahmet; Ermis, Bahri; Bahadir, Burak; Seckiner, Ilker

    2006-01-01

    Hereditary renal adysplasia (HRA) is rare autosomal dominant condition. Patients have several other anomalies including Potter facies, thoracic, cardiac, and extremity deformities. The case present dysmorphic facial features such as hypertelorism, prominent epicanthic folds, a flat and broad nose, choanal stenosis, low set ears and a receding chin. He had femoral bowing, hypoplastic right tibia and agenesis of the right foot. He had rich and thin skin. He had also a dysplastic empty scrotum, penile agenesis, and anal atresia. The autopsy revealed pulmonary hypoplasia, ventricular septal defect, bilateral multicystic renal dysplasia, agenesis of ureter and bladder, intraabdominal testicles, and a single umbilical artery. The penile agenesis was first reported, and including the consanguinity in the parents might further delineate the bilateral multicystic HRA. Vater/caudal regression anomalies, Mullerian duct/aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies association and Coloboma, heart anomaly, choanal atresia, retardation, retardation, genital and ear anomalies syndrome has been considered in differential diagnosis. (author)

  20. 38 CFR 4.26 - Bilateral factor.

    Science.gov (United States)

    2010-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 1 2010-07-01 2010-07-01 false Bilateral factor. 4.26... DISABILITIES General Policy in Rating § 4.26 Bilateral factor. When a partial disability results from disease... disability. The bilateral factor will be applied to such bilateral disabilities before other combinations are...

  1. Bilateral nephrocalcinosis and amelogenesis imperfecta: A case report

    Directory of Open Access Journals (Sweden)

    Alok Patel

    2015-01-01

    Full Text Available Amelogenesis imperfecta (AI is a group of hereditary disorders that affect the quality and/or quantity of dental enamel. This paper describes the clinicopathological features of a patient who was born of nonconsanguineous parents and who presented with oral alterations, including yellow and misshapen teeth, intrapulpal calcifications, delayed tooth eruption, and gum enlargement. Scanning electron microscopy of the teeth revealed hypoplastic enamel, and a renal ultrasound detected bilateral nephrocalcinosis, leading to a diagnosis of AI and nephrocalcinosis syndrome. Since nephrocalcinosis is often asymptomatic and can be associated with impaired renal function, dentists who see children with a generalized and thin hypoplastic AI should consider a renal ultrasound scan and referral to a Nephrologist. Children with nephrocalcinosis should also be considered for a dental check.

  2. Anton-Babinski syndrome in an old patient: a case report and literature review.

    Science.gov (United States)

    Chen, Jiann-Jy; Chang, Hsin-Feng; Hsu, Yung-Chu; Chen, Dem-Lion

    2015-03-01

    Anton-Babinski syndrome is a rare disease featuring bilateral cortical blindness and anosognosia with visual confabulation, but without dementia or any memory impairment. It has a unique neuropsychiatric presentation and should be highly suspected in those with odd visual loss and imaging evidence of occipital lobe injury. In the case discussed herein, a 90-year-old man presented with bilateral blindness, obvious anosognosia, and vivid visual confabulation, which he had had for 3 days. Brain computed tomography demonstrated recent hypodense infarctions at the bilateral occipital lobes. Thus, the patient was diagnosed with Anton-Babinski syndrome. Because of his age and the thrombolytic therapy during the golden 3 hours after ischemic stroke, the patient received aspirin therapy rather than tissue plasminogen activator or warfarin. He gradually realized he was blind during the following week, but died of pneumonia 1 month later. In the literature, it is difficult to establish awareness of blindness in patients with Anton-Babinski syndrome, but optimistically, in one report, a patient was aware of blindness within 2 weeks, without vision improvement. Our case illustrates that elderly patients with Anton-Babinski syndrome can partially recover and that 1 week is the shortest time for the establishment of awareness of blindness for sufferers without vision improvement. © 2014 The Authors. Psychogeriatrics © 2014 Japanese Psychogeriatric Society.

  3. A Case with Cramp-Fasciculation Syndrome

    Directory of Open Access Journals (Sweden)

    Pinar Yalinay Dikmen

    2014-12-01

    Full Text Available Cramp-fasciculation syndrome is one of the peripheral nerve hyperexcitability disorders and presents muscle aching, cramps, stiffness and exercise intolerance. Fasciculation and cramps can be seen both in healthy individuals and in those with fatal diseases, such as Amyotrophic Lateral Sclerosis. We present a 27-year-old male patient, professional soccer player with fasciculations and cramps in  bilateral gastrocnemius-soleus complex. The patient complained about having to stop playing soccer because of muscle cramps and twitches in both calves, which had started 3 years earlier. After completing all laboratory and electrophysiological examinations, the patient was diagnosed as cramp-fasciculation syndrome. The aim of this paper was to present a rare case of cramp-fasiculation syndrome and discuss if the syndrome is benign or pioneer of a severe pathological process.

  4. Esthesioneuroblastoma in Maffucci's syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Kurian, Sobha; Crowell, Edward B. [West Virginia University, Section of Hematology/Oncology, Department of Medicine, Health Science Center, Morgantown (United States); Ertan, Esmer; Rassekh, Christopher [West Virginia University, Department of Otolaryngology, Morgantown (United States); Ducatman, Barbara [West Virginia University, Department of Pathology, Morgantown (United States)

    2004-10-01

    Maffucci's syndrome consists of multiple cutaneous hemangiomas, dyschondroplasia, and enchondromas with potential for malignant change. We report a case of a 33-year-old man with Maffucci's syndrome who presented with a several month history of nasal congestion, facial pain, and diminished vision in his left eye. Radiological studies showed a large soft tissue mass centered in the sinonasal area, extending bilaterally into maxillary sinuses and orbits with compression of left optic nerve. Biopsy of the mass showed esthesioneuroblastoma (olfactory neuroblastoma). Chemotherapy resulted in initial improvement, but the tumor recurred and did not respond to further treatment, resulting in his death. Sarcomatous tumors are reported in Maffucci's syndrome, but this is a rare case of a neuroendocrine tumor in a patient with Maffucci's syndrome. (orig.)

  5. A case Report of Wolfram Syndrome

    Directory of Open Access Journals (Sweden)

    Zahra Razavi

    2007-01-01

    Full Text Available Wolfram syndrome is the association of diabetes mellitus, optic atrophy, diabetes insipidus and sensorineural deafness and is sometimes called DIDMOAD (Diabetes Insipidus, Diabets Mellitus, Optic Atrophy, and Deafness. It is a rare autosomal recessive disease with prevalence of one per 770,000. Natural history of Wolfram syndrome suggests that most patients will eventually develop most complications of this progressive neurodegenerative disorder. Juvenile–onset diabetes mellitus and optic atrophy are the best available diagnostic criteria for Wolfram syndrome. In this report clinical features of a patient with DIDMOAD syndrome is presented. A 12 year old male presented with short standing diabetes mellitus and diabetes insipidus. Further investigations showed bilateral optic atrophy, mild hearing loss and short stature. His parents were relative and he is first case in his family.

  6. Heerfordt Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Füsun Mayda Domaç

    2010-09-01

    Full Text Available Heerfordt syndrome is a form of neurosarcoidosis with the combination of fever, enlargement of the parotid gland, anterior uveitis, and facial nerve paralysis. We present a 38-year-old female patient who had a solid and painful swelling behind each ear 20 days after the complaints of redness of both eyes, fatigue, night sweat, and weight loss. Three weeks later, right facial paralysis developed, and the patient was seen in our outpatient clinic. On physical examination, bilateral solid and painful masses were observed on the parotid glands. Neurological examination was normal except for the right facial nerve paralysis. Ophthalmologic examination revealed bilateral anterior uveitis. Cranial magnetic resonance imaging was normal. On parotid gland magnetic resonance imaging, enlargement, lobulation and cystic lesions on both parotid glands with heterogeneous contrast involvement were observed. Parotid biopsy showed non-necrotizing granulomatous sialadenitis. There were multiple nodules on both lungs on mediastinum computerized tomography. Laboratory tests revealed: C-reactive protein 0.75 mg/dL, erythrocyte sedimentation rate 26 mm/hour and angiotensin-converting enzyme 83 U/L (N: 8-52 U/L Though the patient, diagnosed as Heerfordt syndrome, had phase 1 sarcoidosis, she was treated with 45 mg/day steroid because of the multiple organ involvement. In conclusion, Heerfordt syndrome, a rare manifestation of neurosarcoidosis, must be kept in mind in the differential diagnosis of facial nerve paralysis.

  7. Heerfordt Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Füsun Mayda Domaç

    2010-09-01

    Full Text Available Heerfordt syndrome is a form of neurosarcoidosis with the combination of fever, enlargement of the parotid gland, anterior uveitis, and facial nerve paralysis. We present a 38-year-old female patient who had a solid and painful swelling behind each ear 20 days after the complaints of redness of both eyes, fatigue, night sweat, and weight loss. Three weeks later, right facial paralysis developed, and the patient was seen in our outpatient clinic. On physical examination, bilateral solid and painful masses were observed on the parotid glands. Neurological examination was normal except for the right facial nerve paralysis. Ophthalmologic examination revealed bilateral anterior uveitis. Cranial magnetic resonance imaging was normal. On parotid gland magnetic resonance imaging, enlargement, lobulation and cystic lesions on both parotid glands with heterogeneous contrast involvement were observed. Parotid biopsy showed non-necrotizing granulomatous sialadenitis. There were multiple nodules on both lungs on mediastinum computerized tomography. Laboratory tests revealed: C-reactive protein 0.75 mg/dL, erythrocyte sedimentation rate 26 mm/hour and angiotensin-converting enzyme 83 U/L (N: 8-52 U/L Though the patient, diagnosed as Heerfordt syndrome, had phase 1 sarcoidosis, she was treated with 45 mg/day steroid because of the multiple organ involvement. In conclusion, Heerfordt syndrome, a rare manifestation of neurosarcoidosis, must be kept in mind in the differential diagnosis of facial nerve paralysis

  8. Electron-beam CT diagnosis of the viscero-atrial heterotaxy syndrome

    International Nuclear Information System (INIS)

    Yang Youyou; Dai Ruping; Jing Baolian; He Sha; Bai Hua; Li Xiangmin; Zhou Xuhui; Peng Qian; Meng Quanfei

    2002-01-01

    Objective: To assess the usefulness of electron-beam CT (EBCT) in diagnosis of the viscero-atrial heterotaxy syndrome. Methods: Ten patients with the viscero-atrial heterotaxy syndrome were evaluated. The patients ranged in age from 7 months to 17 years (averaged 9.5 years). Five of the patients underwent EBCT contrast single slice mode while another 5 patients did continuous volume scan obtained from the superior aperture of thorax to the middle part of abdomen. All the patients had both angiocardiogram and echocardiogram, and 6 patients had operative outcomes. Results; (1) Eight patients with right atrial isomerism, bilaterally morphologic right atrial appendages, right lobe dominant symmetric liver, bilaterally epi-arterial bronchi, trilobed lungs, and total anomalous pulmonary venous connectional were clearly detected. Endocardial cushions defect, pulmonary stenosis, right-sided aortic arch and descending aorta were documented in 7 patients. Double outlet of right ventricle was imaged in 6 patients and hiatal hernia in 2 patients. Neither a spleen nor splenulus were found. (2) Two patients with left atrial isomerism, bilaterally morphologic left atrial appendages, left lobe dominant symmetric liver, bilaterally hyparterial bronchi, bilobed lungs, double outlet of right ventricle, pulmonary stenosis, interruption of inferior vena cave, right-sided aortic arch, and descending aorta were documented. Endocardial cushions defect was detected in 1 patient. Multiple spleens were demonstrated in the right upper abdomen in the 2 patients. (3) The number of abnormal observations detected by EBCT was 116, while that done by angiocardiogram and echocardiogram were 65 and 43 respectively. Conclusion: EBCT is a useful tool in the evaluation of patients with the syndrome of viscero-atrial heterotaxia

  9. Ellis-van Creveld syndrome in an Indian child: a case report

    OpenAIRE

    Veena, K.M.; Jagadishchandra, H.; Rao, Prasanna Kumar; Chatra, Laxmikanth

    2011-01-01

    Ellis-van Creveld syndrome is a rare congenital genetic disorder having autosomal recessive inheritance. It is a syndrome affecting the Amish population of Pennsylvania in USA with prevalence rate of 1/5,000 live at birth. In non-Amish population, the birth prevalence is 7/1,000,000. The syndrome is characterized by bilateral postaxial polydactyly of the hands, chondrodysplasia of long bones resulting in acromesomelic dwarfism, ectodermal dysplasia affecting nails as well as teeth and congeni...

  10. Pregnancy following bilateral salpingectomy

    DEFF Research Database (Denmark)

    Oturai, Annette Bang

    2008-01-01

    This report presents a rare case of spontaneous pregnancy following bilateral salpingectomy. A woman with a history of bilateral salpingectomy was admitted to hospital because of abdominal pain and positive urine HCG. Surprisingly, ultrasound confirmed a live intrauterine fetus. The pregnancy...... was unwanted, and the woman decided to terminate the pregnancy. She was offered diagnostic examination to localise a potential fistula, but she declined. In a MEDLINE search of English literature this is only the second case of spontaneous pregnancy following bilateral salpingectomy Udgivelsesdato: 2008/4/21...

  11. A case of Swyer-James syndrome

    International Nuclear Information System (INIS)

    Suzuki, Toshimitsu; Ohtani, Naoshi; Kimura, Sohichi; Izuchi, Rokuro; Iio, Masaaki; Fujinami, Kenji.

    1982-01-01

    Infantile infections are thought to constitute one of the main bases of the etiology of Swyer-James syndrome. This case seems to support the above theory allowing for the anamnesis of the pleuritis at 2 years of age, bronchographical findings - bilateral but markedly left-sided bud-like bronchiectatic changes - and left pulmonary angiographical findings - simultaneous appearance of pulmonary arteries and veins with scarce capillary image. Concerning the ventilation of this syndrome, 133 Xe inhalation test showed a ''Pendelluft'' phenomenon, shift of 133 Xe from the healthy to the affected lung on forced expiration. (author)

  12. Nelson syndrome: historical perspectives and current concepts.

    Science.gov (United States)

    Hornyak, Mark; Weiss, Martin H; Nelson, Don H; Couldwell, William T

    2007-01-01

    The appearance of an adrenocorticotropic hormone (ACTH)-producing tumor after bilateral adrenalectomy for Cushing disease was first described by Nelson in 1958. The syndrome that now bears his name was characterized by hyperpigmentation, a sellar mass, and increased plasma ACTH levels. The treatment of Cushing disease has changed drastically since the 1950s, when the choice was adrenalectomy. Thus, the occurrence, diagnosis, and treatment of Nelson syndrome have changed as well. In the modern era of high-resolution neuroimaging, transsphenoidal microneurosurgery, and stereotactic radiosurgery, Nelson syndrome has become a rare entity. The authors describe the history of the diagnosis and treatment of Nelson syndrome. In light of the changes described, the authors believe this disease must be reevaluated in the contemporary era and a modern paradigm adopted.

  13. Infectious mononucleosis-like syndrome probably attributable to Coxsackie A virus infection.

    Science.gov (United States)

    Cunha, Burke A; Mickail, Nardeen; Petelin, Andrew P

    2012-01-01

    Infectious mononucleosis (IM) is a clinical syndrome most often attributable to Epstein-Barr virus (EBV). Characteristic clinical features of EBV IM include bilateral upper lid edema, exudative or nonexudative pharyngitis, bilateral posterior cervical adenopathy, and splenomegaly ± maculopapular rash. Laboratory features of EBV IM include atypical lymphocytes and elevated levels of serum transaminases. Leukopenia and thrombocytopenia are not uncommon. The syndrome of IM may also be attributable to other infectious diseases, eg, cytomegalovirus (CMV), human herpes virus-6 (HHV-6), or Toxoplasma gondii. Less commonly, viral hepatitis, leptospirosis, brucellosis, or parvovirus B(19) may present as an IM-like infection. To the best of our knowledge, only 2 cases of IM-like infections attributable to Coxsackie B viruses (B(3) and B(4)) have been reported. We present the first reported case of an IM-like syndrome with sore throat, fatigue, atypical lymphocytes, and elevated levels of serum transaminases likely due to Coxsackie A in an immunocompetent adult. Copyright © 2012 Elsevier Inc. All rights reserved.

  14. Cell-to-cell communication in bilateral macronodular adrenal hyperplasia causing hypercortisolism

    Directory of Open Access Journals (Sweden)

    Herve eLefebvre

    2015-04-01

    Full Text Available It has been well established that, in the human adrenal gland, cortisol secretion is not only controlled by circulating corticotropin but is also influenced by a wide variety of bioactive signals, including conventional neurotransmitters and neuropeptides, released within the cortex by various cell types such as chromaffin cells, neurons, cells of the immune system, adipocytes and endothelial cells. These different types of cells are present in bilateral macronodular adrenal hyperplasia, a rare etiology of primary adrenal Cushing’s syndrome, where they appear intermingled with adrenocortical cells in the hyperplastic cortex. In addition, the genetic events which cause the disease favor abnormal adrenal differenciation that results in illicit expression of paracrine regulatory factors and their receptors in adrenocortical cells. All these defects constitute the molecular basis for aberrant autocrine/paracrine regulatory mechanisms which are likely to play a role in the pathophysiology of bilateral macronodular adrenal hyperplasia-associated hypercortisolism. The present review summarizes the current knowledge on this topic as well as the therapeutic perspectives offered by this new pathophysiological concept.

  15. Bilateral persistent hyperplastic primary vitreous

    Directory of Open Access Journals (Sweden)

    Jain Tarun

    2009-01-01

    Full Text Available A case of bilateral persistent hyperplastic primary vitreous (PHPV in a 3-month-old male infant, who had bilateral leukokoria, is presented. The child was referred for imaging with a clinical suspicion of retinoblastoma. Gray-scale ultrasound evaluation revealed an echogenic band in the posterior segment of both globes, extending from the posterior surface of the lens capsule to the optic disc. Doppler examination revealed the presence of arterial flow in the band in both globes. Associated echogenic hemorrhage was also seen, which was confirmed by computed tomography. Most cases of PHPV are sporadic and unilateral, and bilateral PHPV is rare. The imaging features in this case suggest the diagnosis of bilateral PHPV and differentiate it from retinoblastoma. This entity, although infrequent, should be considered in the differential diagnosis while evaluating bilateral leukokoria.

  16. A severe form of Crouzon's Syndrome: clinical and radiological correlation

    International Nuclear Information System (INIS)

    Abdallah, Ahmad M.

    2003-01-01

    Craniofacial dysostosis (Crouzon's syndrome) is a well defined, dominantly inherited disorder, described by Crouzon in 1912. It is characterized by several deformities involving the skull,face and eyes. This case report details a rare form of Crouzon's syndrome in which proptosis was so severe that globes were completely proptotic outside the patient's extremely shallow orbits, and the eyelids were undeveloped bilaterally and replaced by small folds of skin. It appears that this is the first report of such a severe form of Crouzon's syndrome. (author)

  17. Eagle's syndrome: report of two cases using computed tomography

    International Nuclear Information System (INIS)

    Lee, Sul Mi; Kwon, Hyuk Rok; Choi, Hang Moon; Park, In Woo

    2002-01-01

    Two cases of Eagle's syndrome are reported. The first case involved a 31-year-old man who complained of pain in his throat and pain at preauricular area on turning his head. Panoramic and computed tomography (CT) views showed bilateral stylohyoid ligament ossification. The symptoms were relieved after surgical removal. The second case involved a 56-year-old female whose chief complaints were a continuous dull pain and occasional 'shooting' pain on lower left molar area. During the physical examination, an ossified stylohyoid ligament was palpated at the left submandibular area. Panoramic and CT images showed prominent bilateral stylohyoid ligament ossification. CT scans also showed hypertrophy of left medial and lateral pterygoid muscles. The symptoms were relieved after medication. CT is a useful tool for the examination of ossified stylohyoid ligaments and studying the relationship between Eagle's syndrome and adjacent soft tissue.

  18. “Presencia de la masonería alemana en México: Carlos de Gagern (1826-1885”

    Directory of Open Access Journals (Sweden)

    Martha Celis de la Cruz

    2010-01-01

    Full Text Available Este texto explica la participación del Teniente Carlos de Gagern en México durante la Guerra de Reforma, la Intervención francesa y en la vida política de la República Restaurada. Como hombre ilustrado perteneció a la Sociedad de Geografía y Estadística de la República Mexicana, fue escritor, periodista y político. Por sus méritos militares e intelectuales le fue otorgada la nacionalidad mexicana. Según las fuentes consultadas perteneció a la masonería alemana, mexicana y norteamericana.

  19. Non-syndromic posterior lenticonus a cause of childhood cataract: evidence for X-linked inheritance.

    Science.gov (United States)

    Russell-Eggitt, I M

    2000-12-01

    When an X-linked pedigree of posterior lenticonus with cataract was identified further evidence for X-linked inheritance of this condition was sought. Forty-three cases of posterior lenticonus were identified from a database of 354 children with cataract. Two children with the X-linked syndromes of Lowe and Nance-Horan and 3 children with Fanconi syndrome have been excluded from further analysis. None of the children was deaf. None of the non-syndromic cases had microcornea. There were 38 cases of non-syndromic posterior lenticonus (approximately 11%). There were 15 children from 13 pedigrees and 23 apparently sporadic cases. Of the 106 cases on the database with unilateral cataract 15 had posterior lenticonus (approximately 14%). Eleven of 13 pedigrees were compatible with X-linked inheritance or autosomal dominant inheritance with variable expression. However, in 2 pedigrees there was father to son transmission. Posterior lenticonus is a common cause of unilateral infantile cataract, but is thought to be a rare cause of bilateral cataracts. This study suggests that posterior lenticonus is responsible for a significant proportion of childhood cataracts (approximately 14% of unilateral and approximately 9% of bilateral cases). Posterior lenticonus is generally thought to occur as a sporadic condition. This study demonstrates that there is a family history of early-onset cataract in a significant number of bilateral cases (approximately 58%).

  20. Idiopathic bilateral male breast abscess.

    Science.gov (United States)

    Sinha, Rajan Kumar; Sinha, Mithilesh Kumar; Gaurav, Kumar; Kumar, Amar

    2014-03-10

    A 38-year-old man presented with bilateral breast swelling, along with pain and redness for 7 days. Bilateral axillary nodes were also palpable; which were multiple and discrete. A provisional diagnosis of bilateral breast abscess was made with suspicion of underlying malignancy. Incision and drainage through subareolar incision was performed and the adjoining tissue was excised and sent for histopathological examination.

  1. Frontal Encephalocele Associated With a Bilateral Tessier Number Three Cleft and Fraser Syndrome.

    Science.gov (United States)

    Wood, Benjamin C; Yi, Sojung; Oh, Albert K; Rogers, Gary F; Magge, Suresh N

    2015-09-01

    Oblique craniofacial clefts and encephaloceles are each rare conditions, and only a few instances of these findings in combination have been described. Each pathologic entity presents a unique reconstructive challenge. The authors report the case of a male infant who presented with a large right frontoencephalocele and bilateral Tessier number 3 clefts. A review of the pertinent literature, including specific considerations related to perioperative management and technical aspects of the surgical approach, is discussed.

  2. Assignment of 1H, 13C, and 15N resonances of WT matrix protein and its R55F mutant from Mason-Pfizer monkey virus

    Czech Academy of Sciences Publication Activity Database

    Vlach, J.; Lipov, J.; Veverka, V.; Rumlová, Michaela; Ruml, T.; Hrabal, R.

    2005-01-01

    Roč. 31, - (2005), s. 381-382 ISSN 0925-2738 R&D Projects: GA ČR GA203/03/0490 Institutional research plan: CEZ:AV0Z4055905 Keywords : Mason-Pfizer monkey virus * NMR resonance assignment * matrix protein Subject RIV: CE - Biochemistry Impact factor: 2.180, year: 2005

  3. Aberrant expression of glucagon receptors in adrenal glands of a patient with Cushing's syndrome and ACTH-independent macronodular adrenal hyperplasia

    Directory of Open Access Journals (Sweden)

    Valeria de Miguel

    2010-06-01

    Full Text Available Adrenocorticotropin (ACTH independent bilateral macronodular adrenal hyperplasia (AIMAH is a rare cause of Cushing´s syndrome, characterized by bilateral adrenal lesions and excess cortisol production despite ACTH suppression. Cortisol synthesis is produced in response to abnormal activation of G-protein- coupled receptors, such as gastric inhibitory peptide, vasopressin, beta adrenergic agonists, LH/hCG and serotonin receptors. The aim of this study was to analyze the expression of glucagon receptors in adrenal glands from an AIMAH patient. A patient with ACTH-independent Cushing´s syndrome and bilateral macronodular adrenal hyperplasia was screened for altered activation of adrenal receptors by physiological (mixed meal and pharmacological (gonadotrophin releasing hormone, ACTH and glucagon tests. The results showed abnormally high levels of serum cortisol after stimulation with glucagon. Hypercortisolism was successfully managed with ketoconazole treatment. Interestingly, a 4-month treatment with a somatostatin analogue (octreotide was also able to reduce cortisol secretion. Finally, Cushing's syndrome was cured after bilateral adrenalectomy. Abnormal mRNA expression for glucagon receptor in the patient´s adrenal glands was observed by Real-Time PCR procedure. These results strongly suggest that the mechanism of AIMAH causing Cushing´s syndrome in this case involves the illicit activation of adrenal glucagon receptors. This is the first case reported of AIMAH associated with ectopic glucagon receptors.

  4. Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice

    NARCIS (Netherlands)

    Rainger, J.; Beusekom, E. van; Ramsay, J.K.; McKie, L.; Al-Gazali, L.; Pallotta, R.; Saponari, A.; Branney, P.; Fisher, M.; Morrison, H.; Bicknell, L.; Gautier, P.; Perry, P.; Sokhi, K.; Sexton, D.; Bardakjian, T.M.; Schneider, A.S.; Elcioglu, N.; Ozkinay, F.; Koenig, R.; Megarbane, A.; Semerci, C.N.; Khan, A.; Zafar, S.; Hennekam, R.; Sousa, S.B.; Ramos, L.; Garavelli, L.; Furga, A.S.; Wischmeijer, A.; Jackson, I.J.; Gillessen-Kaesbach, G.; Brunner, H.G.; Wieczorek, D.; Bokhoven, J.H.L.M. van; FitzPatrick, D.R.

    2011-01-01

    Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly. Homozygosity mapping and subsequent targeted mutation analysis of a locus on 14q24.2

  5. Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

    NARCIS (Netherlands)

    Rainger, J.; van Beusekom, E.; Ramsay, J.K.; McKie, L.; Al-Gazali, L.; Pallotta, R.; Saponari, A.; Branney, P.; Fisher, M.; Morrison, H.; Bicknell, L.; Gautier, P.; Perry, P.; Sokhi, K.; Sexton, D.; Bardakjian, T.M.; Schneider, A.S.; Elcioglu, N.; Ozkinay, F.; Koenig, R.; Megarbane, A.; Semerci, C.N.; Khan, A.; Zafar, S.; Hennekam, R.; Sousa, S.B.; Ramos, L.; Garavelli, L.; Furga, A.S.; Wischmeijer, A.; Jackson, I.J.; Gillessen-Kaesbach, G.; Brunner, H.G.; Wieczorek, D; van Bokhoven, H.; Fitzpatrick, D.R.

    2011-01-01

    Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly. Homozygosity mapping and subsequent targeted mutation analysis of a locus on 14q24.2

  6. Bilateral Endoscopic Medial Maxillectomy for Bilateral Inverted Papilloma

    Directory of Open Access Journals (Sweden)

    Satoru Kodama

    2012-01-01

    Full Text Available Inverted papilloma (IP is a benign tumor of the nasal cavity and paranasal sinuses that is unilateral in most cases. Bilateral IP, involving both sides of the nasal cavity and sinuses, is extremely rare. This paper describes a large IP that filled in both sides of the nasal cavity and sinuses, mimicking association with malignancy. The tumor was successfully treated by bilateral endoscopic medial maxillectomy (EMM. The patient is without evidence of the disease 24 months after surgery. If preoperative diagnosis does not confirm the association with malignancy in IP, endoscopic sinus surgery (ESS should be selected, and ESS, including EMM, is a good first choice of the treatment for IP.

  7. Bilateral Endoscopic Medial Maxillectomy for Bilateral Inverted Papilloma

    Science.gov (United States)

    Kodama, Satoru; Kawano, Toshiaki; Suzuki, Masashi

    2012-01-01

    Inverted papilloma (IP) is a benign tumor of the nasal cavity and paranasal sinuses that is unilateral in most cases. Bilateral IP, involving both sides of the nasal cavity and sinuses, is extremely rare. This paper describes a large IP that filled in both sides of the nasal cavity and sinuses, mimicking association with malignancy. The tumor was successfully treated by bilateral endoscopic medial maxillectomy (EMM). The patient is without evidence of the disease 24 months after surgery. If preoperative diagnosis does not confirm the association with malignancy in IP, endoscopic sinus surgery (ESS) should be selected, and ESS, including EMM, is a good first choice of the treatment for IP. PMID:22953103

  8. Mild toxic anterior segment syndrome mimicking delayed onset toxic anterior segment syndrome after cataract surgery

    Directory of Open Access Journals (Sweden)

    Su-Na Lee

    2014-01-01

    Full Text Available Toxic anterior segment syndrome (TASS is an acute sterile postoperative anterior segment inflammation that may occur after anterior segment surgery. I report herein a case that developed mild TASS in one eye after bilateral uneventful cataract surgery, which was masked during early postoperative period under steroid eye drop and mimicking delayed onset TASS after switching to weaker steroid eye drop.

  9. 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.)

  10. 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.)

  11. "Puffy hand syndrome".

    Science.gov (United States)

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

    2017-01-01

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

  12. Bilateral painful parotid lumps and a lump in the groin: An uncommon presentation of common Kikuchi's disease

    Directory of Open Access Journals (Sweden)

    Sumeet Prakash Mirgh

    2016-01-01

    Full Text Available Kikuchi-Fujimoto disease (KFD is an under-recognized disease most commonly presenting with cervical lymphadenopathy, fever, and cytopenias in young females. Bilateral parotid enlargement is usually caused by infections (e.g., mumps and autoimmune conditions (e.g., Sjogren syndrome. Parotid enlargement, inguinal lymphadenopathy, and pyrexia of unknown origin are uncommon presenting features of KFD and should be suspected in the appropriate setting.

  13. Bilateral Maxillary Dentigerous Cysts in a Nonsyndromic Child: A Rare Presentation and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Rakshit Vijay Khandeparker

    2018-01-01

    Full Text Available Dentigerous cysts represent the second most common odontogenic cysts of the jaws after radicular cysts and are usually associated with the crowns of unerupted permanent teeth and rarely deciduous teeth. They are usually solitary in their presentation. Multiple and bilateral dentigerous cysts are an extremely rare presentation in the absence of developmental syndromes or systemic diseases or the use of prescribed certain medications. We hereby present a case of a bilateral dentigerous cyst of the maxilla in a 10-year-old child involving the crowns of unerupted permanent second premolar on the right side and the unerupted permanent canine on the left side. An effort has also been made to review the existing literature on this entity and to stress the importance of radiographic and histopathological examinations in diagnosing such an entity.

  14. Osteogenesis imperfecta with joint contractures: Bruck syndrome

    International Nuclear Information System (INIS)

    Blacksin, M.F.; Pletcher, B.A.; David, M.

    1998-01-01

    We describe an Egyptian boy with osteogenesis imperfecta who was born with thumb contractures and bilateral antecubital pterygia. He was seen at 16 months of age with femur and tibial fractures, thoracic vertebral compression fractures, scoliosis and Wormian bones. The findings are consistent with a diagnosis of Bruck syndrome. (orig.)

  15. Kabuki make-up syndrome with genitourinary anomalies ...

    African Journals Online (AJOL)

    We report a 3.5 year old male child, first in order of birth of healthy consanguineous Egyptian parents with typical characteristics of Kabuki make-up syndrome. The patient had microcephaly, high arched sparse eyebrows, hypertelorism, long palpebral fissures with eversion of the lateral third of the lower eyelids, bilateral ...

  16. Mayer Rokitansky Kuster Hauser (MRKH) syndrome with absent thumbs and big toes.

    Science.gov (United States)

    Yunus, Mahira

    2014-01-01

    Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare developmental failure of Müllerian ducts. Principle clinical features of MRKH syndrome are primary amenorrhoea associated with congenital absence of vagina, uterine anomalies, normal ovaries, 46 XX karyotype with normal female secondary sexual characteristics and frequent association with renal, skeletal, and other congenital anomalies. A case of a 3-year-old child with congenitally absent thumbs and big toes is reported herein; she was brought in with complaints of urinary incontinence. Radiological investigation (ultrasound and magnetic resonance imaging (MRI) scan) revealed absent uterus and vagina while both ovaries were normal. Intravenous urography (IVU) study showed bifid pelvicalyceal systems bilaterally. Karyotyping revealed a 46 XX female phenotype. Laparoscopy confirmed normal ovaries bilaterally and small unfused uterine buds lying beside both ovaries on each side of pelvis. Early diagnosis of MRKH syndrome is essential for timely planning of vaginal and (if possible) uterine reconstructive surgeries.

  17. Primary antiphospholipid antibody syndrome with adrenal hemorrhage in a child : a case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Dong Hun; Lee, Soo Hyun; Kim, Hyun Joo; Yoo, Han Wook; Yoon, Chong Hyun [Ulsan Univ. College of Medicine, Seoul (Korea, Republic of)

    1999-11-01

    Primary antiphospholipid antibody syndrome is a disease that is clinically diagnosed if a patient suffers recurrent thromboses, stroke, recurrent fetal loss, livedo reticularis, and thrombocytopenia, without evidence of systemic lupus erythematosus or other connective diseases. Adrenal hemorrhage in a patient with primary antiphospholipid antibody syndrome is a rarely recognized, but potentially catastrophic disorder. We recently encountered bilateral adrenal hemorrhaging in a child with antiphospholipid antibody syndrome and casem as well as reviewing the literature.

  18. Primary antiphospholipid antibody syndrome with adrenal hemorrhage in a child : a case report

    International Nuclear Information System (INIS)

    Kim, Dong Hun; Lee, Soo Hyun; Kim, Hyun Joo; Yoo, Han Wook; Yoon, Chong Hyun

    1999-01-01

    Primary antiphospholipid antibody syndrome is a disease that is clinically diagnosed if a patient suffers recurrent thromboses, stroke, recurrent fetal loss, livedo reticularis, and thrombocytopenia, without evidence of systemic lupus erythematosus or other connective diseases. Adrenal hemorrhage in a patient with primary antiphospholipid antibody syndrome is a rarely recognized, but potentially catastrophic disorder. We recently encountered bilateral adrenal hemorrhaging in a child with antiphospholipid antibody syndrome and casem as well as reviewing the literature

  19. Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism

    Directory of Open Access Journals (Sweden)

    Jonathan Lévy

    2013-01-01

    Full Text Available Ectrodactyly or split hand and foot malformations (SHFMs are rare malformations of the limbs, characterized by median clefts of the hands and feet, syndactyly, and aplasia and/or hypoplasia of the phalanges. They represent a clinically and genetically heterogeneous disorder, with both sporadic and familial cases. Most of the genomic rearrangements identified to date in some forms of SHFM are autosomal dominant traits, involving various chromosome regions. Bilateral radial ray defects comprise also a large heterogenous group of disorders, including trisomy 18, Fanconi anemia, and thrombocytopenia-absent-radius syndrome, not commonly associated with ectrodactyly. The present paper describes a case of ectrodactyly associated with bilateral radial ray defects, diagnosed in the first trimester of pregnancy, in a fetus affected by trisomy 10. Only four cases of sporadic and isolated ectrodactyly, diagnosed by ultrasonography between 14 and 22 weeks’ gestation, have been reported. To our knowledge, the present case is the first report of mosaic trisomy 10 associated with SHFM and radial aplasia. Trisomy 10 is a rare lethal chromosomal abnormality, most frequently found in abortion products. Only six liveborn mosaic trisomy 10 infants, with severe malformations, dead in early infancy, have been reported. A severe clinical syndrome can be defined, comprising ear abnormalities, cleft lip/palate, malformations of eyes, heart, and kidneys, and deformity of hands and feet and most often associated with death neonatally or in early infancy.

  20. Bilateral, independent juvenile nasopharyngeal angiofibroma

    DEFF Research Database (Denmark)

    Mørkenborg, Marie-Louise; Frendø, M; Stavngaard, T

    2015-01-01

    BACKGROUND: Juvenile nasopharyngeal angiofibroma is a benign, vascular tumour that primarily occurs in adolescent males. Despite its benign nature, aggressive growth patterns can cause potential life-threatening complications. Juvenile nasopharyngeal angiofibroma is normally unilateral, originating...... from the sphenopalatine artery, but bilateral symptoms can occur if a large tumour extends to the contralateral side of the nasopharynx. This paper presents the first reported case of true bilateral extensive juvenile nasopharyngeal angiofibroma involving clinically challenging pre-surgical planning...... embolisation. Radical removal performed as one-step, computer-assisted functional endoscopic sinus surgery was performed. The follow-up period was uncomplicated. CONCLUSION: This case illustrates the importance of suspecting bilateral juvenile nasopharyngeal angiofibroma in patients presenting with bilateral...

  1. Prenatal diagnosis of bilateral anophthalmia by 3D "reverse face" view ultrasound and magnetic resonance imaging.

    Science.gov (United States)

    Araujo Júnior, Edward; Kawanami, Tatiana Emy; Nardozza, Luciano Marcondes Machado; Milani, Hérbene José Figuinha; Oliveira, Patrícia Soares; Moron, Antonio Fernandes

    2012-12-01

    Primary anophthalmia is a rare congenital malformation that affects 0.6/10,000 liveborn infants. It is usually associated with central nervous system malformations, aneuploidies, cytomegalovirus infection and mental retardation and it can also be part of genetic conditions such as Fraser, Goltz, Goldenhar, Waardenburg and Lenz syndromes. Neonatal prognosis depends on whether anophthalmia is an isolated malformation, or it is associated with other defects or part of a syndrome. A healthy 43-year-old woman, G4 P3 with three previous healthy children, was referred to our clinic for a routine obstetric ultrasound at 28 weeks' gestation. The fetal eye globes and lenses could not be seen on two-dimensional (2D) ultrasound, which led to the diagnosis of bilateral congenital anophthalmia. No other fetal malformations were detected. At 30 weeks' gestation, a three-dimensional (3D) ultrasound was performed using the rendering mode and "reverse face" view. Using this technique, the absence of both eye globes could be clearly seen through a "slit". 3D-ultrasound allowed the parents to better understand their child's problem and possible postnatal implications. Fetal magnetic resonance imaging (MRI) was also performed, to study the fetal cortex in more detail. This exam revealed right cerebral hemisphere sulci and gyri hypoplasia. At 41 1/7 weeks, she went into spontaneous labor and delivered vaginally a 3525 g male infant with Apgar scores of 9 and 10. Postnatal exams confirmed bilateral congenital anophthalmia. This is the first case report in the literature of prenatal diagnosis of bilateral anophthalmia using 3D "reverse face" view ultrasound and MRI. Copyright © 2012. Published by Elsevier B.V.

  2. Nystagmus in Laurence-Moon-Biedl Syndrome

    Directory of Open Access Journals (Sweden)

    A. Bruce Janati

    2015-01-01

    Full Text Available Introduction. Laurence-Moon-Biedl (LMB syndrome is a rare autosomal-recessive ciliopathy with manifold symptomatology. The cardinal clinical features include retinitis pigmentosa, obesity, intellectual delay, polydactyly/syndactyly, and hypogenitalism. In this paper, the authors report on three siblings with Laurence-Moon-Biedl syndrome associated with a probable pseudocycloid form of congenital nystagmus. Methods. This was a case study conducted at King Khaled Hospital. Results. The authors assert that the nystagmus in Laurence-Moon-Biedl syndrome is essentially similar to idiopathic motor-defect nystagmus and the nystagmus seen in optic nerve hypoplasia, ocular albinism, and bilateral opacities of the ocular media. Conclusion. The data support the previous hypothesis that there is a common brain stem motor abnormality in sensory-defect and motor-defect nystagmus.

  3. Posterior reversible encephalopathy syndrome in a adult female ...

    African Journals Online (AJOL)

    Typical imaging findings characteristically involve the white matter bilaterally in the parieto-occipital regions. Atypical imaging finding of contrast enhancement of lesion can occur, but is less common. A 20-year-old primiparous lady presented with posterior reversible encephalopathy syndrome. To the best of our knowledge, ...

  4. Differential regional cerebral glucose metabolism in clinical syndromes of frontotemporal lobar degeneration: a study with FDG PET

    International Nuclear Information System (INIS)

    Park, J. M.; Cho, S. S.; Na, D. L.; Lee, K. H.; Choi, Y.; Choe, Y. S.; Kim, B. T.; Kim, S. E.

    2001-01-01

    Frontotemporal lobar degeneration( FTLD) is the third most common dementia, following Alzheimer's disease and Lewy body disease. Four prototypic neurobehavioral syndromes can be produced by FTLD: frontotemporal dementia (FTD), frontotemporal dementia with motor neuron disease (MND), semantic dementia (SD), and progressive aphasia (PA). We investigated patterns of metabolic impairment in patient with FTLD presented with four different clinical syndromes. We analysed glucose metabolic patterns on FDG PET images obtained from 34 patients with a clinical diagnosis of FTLD (19 FTD, 6 MND, 6 SD, and 3 PA, according to a consensus criteria for clinical syndromes associated with FTLD) and 7 age-matched healthy controls using SPM99. Patients with FTD had metabolic deficit in the left frontal cortex and bilateral anterior temporal cortex. Hypometabolism in the bilateral premotor are was shown in patients with MND. Patients with SD had metabolic deficit in the left posterior temporal cortex including Wernicke's area, while hypometabolism in the bilateral inferior frontal gyrus including Broca's area and left angular gyrus was seen in patients with PA. These metabolic patterns were well correlated with clinical features of FTLD syndromes. These data provide a biochemical basis of clinical classification of FTLD. FDG PET may help evaluate and classify patients with FTLD

  5. Differential regional cerebral glucose metabolism in clinical syndromes of frontotemporal lobar degeneration: a study with FDG PET

    Energy Technology Data Exchange (ETDEWEB)

    Park, J. M.; Cho, S. S.; Na, D. L.; Lee, K. H.; Choi, Y.; Choe, Y. S.; Kim, B. T.; Kim, S. E. [College of Medicine, Sungkyunkwan Univ., Seoul (Korea, Republic of)

    2001-07-01

    Frontotemporal lobar degeneration( FTLD) is the third most common dementia, following Alzheimer's disease and Lewy body disease. Four prototypic neurobehavioral syndromes can be produced by FTLD: frontotemporal dementia (FTD), frontotemporal dementia with motor neuron disease (MND), semantic dementia (SD), and progressive aphasia (PA). We investigated patterns of metabolic impairment in patient with FTLD presented with four different clinical syndromes. We analysed glucose metabolic patterns on FDG PET images obtained from 34 patients with a clinical diagnosis of FTLD (19 FTD, 6 MND, 6 SD, and 3 PA, according to a consensus criteria for clinical syndromes associated with FTLD) and 7 age-matched healthy controls using SPM99. Patients with FTD had metabolic deficit in the left frontal cortex and bilateral anterior temporal cortex. Hypometabolism in the bilateral premotor are was shown in patients with MND. Patients with SD had metabolic deficit in the left posterior temporal cortex including Wernicke's area, while hypometabolism in the bilateral inferior frontal gyrus including Broca's area and left angular gyrus was seen in patients with PA. These metabolic patterns were well correlated with clinical features of FTLD syndromes. These data provide a biochemical basis of clinical classification of FTLD. FDG PET may help evaluate and classify patients with FTLD.

  6. Aortic calcification and renal cysts demonstrated by CT in a teenager with Alagille syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Pombo, F. [Dept. of Radiology, Hospital Juan Canalejo, La Coruna (Spain); Isla, C. [Dept. of Radiology, Hospital Juan Canalejo, La Coruna (Spain); Gayol, A. [Dept. of Radiology, Hospital Juan Canalejo, La Coruna (Spain); Bargiela, A. [Dept. of Radiology, Hospital Juan Canalejo, La Coruna (Spain)

    1995-06-01

    Alagille syndrome, or arteriohepatic dysplasia, is a disorder characterized by paucity of intrahepatic bile ducts, peculiar facies and skeletal anomalies. We report a typical case of this syndrome in an 18-year-old girl, in whom abdominal CT showed bilateral renal cysts and aortic wall calcification, findings unreported in the radiological literature. (orig.)

  7. BILATERAL SINGLE SESSION URETEROSCOPY FOR URETERAL ...

    African Journals Online (AJOL)

    Objectives: To determine the feasibility, safety and success rate of bilateral single session rigid retrograde ureteroscopy (URS) for bilateral ureteral calculi. Patients and Methods: Thirty-five patients underwent bilateral single session ureteroscopic calculus removal. Results: Out of 70 renal units in 35 patients treated, ...

  8. Cryptophthalmos and Bilateral Renal Agenesis with Cleft Lip and Palate: Fraser Syndrome: Case Report

    Directory of Open Access Journals (Sweden)

    Emre Pabuçcu

    2012-12-01

    Full Text Available Fraser syndrome is a rare autosomal recessive disorder consisting of multiple anomalies including variable expression of cryptophthalmos, syndactyly, abnormal genitalia, malformations of the nose, ear and larynx, renal agenesis, oro-facial clefts, skeletal defects, umbilical hernia and mental retardation. Antenatally detected multiple congenital fetal anomalies during 22nd week of gestation is reported in this paper. Fraser Syndrome was diagnosed according to major and minor criteria. Early antenatal detection is mandatory and clinician should be awere of the high recurrence rates of this syndrome among siblings threatening subsequent pregnancies and should inform affected families.

  9. The paramedian diencephalic syndrome: a dynamic phenomenon.

    Science.gov (United States)

    Meissner, I; Sapir, S; Kokmen, E; Stein, S D

    1987-01-01

    The paramedian diencephalic syndrome is characterized by a clinical triad: hypersomnolent apathy, amnesic syndrome, and impaired vertical gaze. We studied 4 cases with computed tomography evidence of bilateral diencephalic infarctions. Each case began abruptly with hypersomnolent apathy followed by fluctuations from appropriate affect, full orientation, and alertness to labile mood, confabulation, and apathy. Speech varied from hypophonia to normal; handwriting varied from legible script to gross scrawl. Psychological testing revealed poor learning and recall, with low performance scores. In 3 patients the predominant abnormality was in downward gaze.

  10. Churg-Strauss syndrome from an orthopaedic perspective.

    Science.gov (United States)

    Kung, K L; Yee, P K

    2015-12-01

    Churg-Strauss syndrome, which has been frequently described by physicians in the literature, is a small and medium-sized vessel systemic vasculitis typically associated with asthma, lung infiltrates, and hypereosinophilia. We report a case of Churg-Strauss syndrome with presenting symptoms of bilateral lower limb weakness and numbness only. The patient was admitted to an orthopaedic ward for management and a final diagnosis was reached following sural nerve biopsy. The patient's symptoms responded promptly to steroid treatment and she was able to walk with a stick 3 weeks following admission. This report emphasises the need to be aware of this syndrome when managing patients with neurological deficit in order to achieve prompt diagnosis and treatment.

  11. Artery of Percheron Infarction as an Unusual Cause of Korsakoff’s Syndrome

    Directory of Open Access Journals (Sweden)

    Yongxing Zhou

    2015-01-01

    Full Text Available The Korsakoff syndrome is defined as “an abnormal mental state in which memory and learning are affected out of all proportion to other cognitive functions in an otherwise alert and responsive patient.” Confabulation refers to false or erroneous memories arising, not deliberately, in the context of a neurological amnesia and is often thought of as pathognomonic of the Korsakoff syndrome. Although the exact pathophysiology is unknown, various studies have identified brain lesions in the thalami, mammillary bodies, and frontal cortex. We report a case of a 68-year-old male presenting with acute altered mental status on July 16, 2015. The neuropsychological dysfunctions included prominent Korsakoff’s syndrome, which became apparent when the altered mental status resolved. Amnesia was accompanied by prominent confabulation, disorientation, and lack of insight into his own disability. Neuroradiological data indicated that the intralaminar and dorsomedial nuclei in bilateral thalami were infarcted by occlusion of the artery of Percheron. We believe that ours is one of few reported cases of Korsakoff syndrome in a patient with infarction involving the territory of the artery of Percheron. We conclude that bilateral thalamic lesions could cause Korsakoff’s syndrome and the intralaminar and dorsomedial nuclei might be important structures in the pathogenesis of confabulation.

  12. Acute Bilateral Superior Branch Vestibular Neuropathy

    Directory of Open Access Journals (Sweden)

    Dario A. Yacovino

    2018-05-01

    Full Text Available The rapid onset of a bilateral vestibular hypofunction (BVH is often attributed to vestibular ototoxicity. However, without any prior exposure to ototoxins, the idiopathic form of BVH is most common. Although sequential bilateral vestibular neuritis (VN is described as a cause of BVH, clinical evidence for simultaneous and acute onset bilateral VN is unknown. We describe a patient with an acute onset of severe gait ataxia and oscillopsia with features compatible with acute BVH putatively due to a bilateral VN, which we serially evaluated with clinical and laboratory vestibular function testing over the course of 1 year. Initially, bilateral superior and horizontal semicircular canals and bilateral utricles were impaired, consistent with damage to both superior branches of each vestibular nerve. Hearing was spared. Only modest results were obtained following 6 months of vestibular rehabilitation. At a 1-year follow-up, only the utricular function of one side recovered. This case is the first evidence supporting an acute presentation of bilateral VN as a cause for BVH, which would not have been observed without critical assessment of each of the 10 vestibular end organs.

  13. Facet joint syndrome

    International Nuclear Information System (INIS)

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

    2002-01-01

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

  14. [Ehler-Danlos syndrome type VIII].

    Science.gov (United States)

    Ciarloni, L; Perrigouard, C; Lipsker, D; Cribier, B

    2010-03-01

    Ehlers-Danlos syndrome (EDS) comprises a heterogeneous group of diseases involving genetic collagen fibre impairment. We describe a case of a patient presenting the rare type VIII, in which dermatitis ocre was associated with parodontal disease, and which was diagnosed late. A 29-year-old man consulted for a pretibial ulcer present for seven years, resulting from a post-traumatic haematoma that had failed to heal. In view of the longiliner morphology, it had previously been diagnosed as Marfan syndrome. Subsequently, edentation was observed as well as "alveolar bone fragility". Examination revealed a marfanoid morphotype, a pretibial ulcer set within long-standing bilateral dermatitis ocre and papyraceous scars, but no joint hyperlaxity or cutaneous hyperelasticity. The diagnosis was consequently corrected to EDS type VIII. Type VIII is a rare form of EDS, and the molecular mechanism is poorly understood. The involvement of parodontal connective tissue suggests impairment of collagen I and III proteins. It is important to identify this type of the disease since it involves parodontal disease for which early treatment is required in order to try to prevent edentation. The present case demonstrates the importance of diagnosis, which may be based upon appearance of bilateral dermatitis ocre from the age of 15 years associated with skin fragility. This sign is not part of the classical picture of Marfan syndrome, with which EDS type VIII is often confounded. Copyright 2009 Elsevier Masson SAS. All rights reserved.

  15. Patient with bilateral breast enlargement and hypospadias.

    Science.gov (United States)

    Ali, A A; Ahmed, T; Rashid, M M

    2009-01-01

    A 20 year old man was admitted in the surgical unit of Dhaka Medical College Hospital on August 2007 presented with Hypospadias & underdeveloped penis from childhood, gradual enlargement of both breasts for the last 10 years, absence of axillary and pubic hair from puberty & painful swelling of both testes for the last 3 years. The patient was regarded as a female upto the age of 10 years. He has got no voice change since puberty. On examination he had average body built, there was bilateral gynaecomastia, hypospadias, rudimentary penis & absence of pubic and axillary hair. His testosterone level, serum prolactin level, serum progesterone level, serum estradiol level was done. Cytology on buccal smear done and ultrasonography revealed no ovary and uterus. Ultimately patient was diagnosed as a case of androgen insensitivity syndrome (AIS). The case is reported for clinical awareness & to share our experience.

  16. Gitelman's syndrome: a rare presentation mimicking cauda equina syndrome.

    LENUS (Irish Health Repository)

    Quinlan, C S

    2012-02-01

    We describe a case of bilateral weakness of the lower limbs, sensory disturbance and intermittent urinary incontinence, secondary to untreated Gitelman\\'s syndrome, in a 42-year-old female who was referred with presumed cauda equina syndrome. On examination, the power of both legs was uniformly reduced, and the perianal and lower-limb sensation was altered. However, MRI of the lumbar spine was normal. Measurements of serum and urinary potassium were low and blood gas analysis revealed metabolic alkalosis. Her symptoms resolved following potassium replacement. We emphasise the importance of measurement of the plasma and urinary levels of electrolytes in the investigation of patients with paralysis of the lower limbs and suggest that they, together with blood gas analysis, allow the exclusion of unusual causes of muscle weakness resulting from metabolic disorders such as metabolic alkalosis.

  17. Transnodal lymphangiography and post-CT for protein-losing enteropathy in Noonan syndrome.

    Science.gov (United States)

    Matsumoto, Tomohiro; Kudo, Takahiro; Endo, Jun; Hashida, Kazunobu; Tachibana, Nao; Murakoshi, Takatsugu; Hasebe, Terumitsu

    2015-01-01

    Noonan syndrome, which is a multiple congenital disorder, may be associated with lymphatic abnormalities. Protein-losing enteropathy (PLE) developing in Noonan syndrome is rare. We performed transnodal lymphangiography by directly accessing bilateral inguinal nodes under ultrasound guidance in a 17-year-old female with PLE developing in Noonan syndrome to assess detailed anatomical findings regarding lymphatic vessels. There have been no reports on transnodal lymphangiography for Noonan syndrome. Post-lymphangiographic CT images revealed multiple lymphatic abnormalities and lipiodol extravasation into the duodenum and the proximal jejunum. Transnodal lymphangiography was easy and safe for PLE developing in Noonan syndrome, and post-lymphangiographic CT provided invaluable information.

  18. Partial prune belly syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    Aditya Pratap Singh

    2017-01-01

    Full Text Available Prune belly syndrome (PBS is characterized by deficient development of abdominal muscles that causes the skin of the abdomen to wrinkle like a prune, bilateral cryptorchidism, abnormalities of the urinary tract. The etiology of PBS is unclear and possible familial genetic inheritance was reported in some of the studies. We are presenting here a case with the absence of the muscle in the right side of the abdomen as hernia, thinning of the muscle on left side with bilateral cryptorchidism, and abnormalities of the urinary tract. It is the partial presentation of the PBS.

  19. Keratitis-Ichthyosis-Deafness syndrome: A rare congenital disorder

    Science.gov (United States)

    Shanker, Vinay; Gupta, Mudita; Prashar, Aditi

    2012-01-01

    Keratitis-Icthyosis-Deafness syndrome is a rare congenital disorder characterized by keratitis, ichthyosis, and deafness. We report a 13 year old female child who presented with diffuse alopecia of the scalp and body. There was erythrokeratoderma of face and discrete hyperkeratotic hyperpigmented papulo plaque lesions on the body. Patient also had reticulate hyperkeratosis of palms and soles. There was history of recurrent episodes of folliculitis over the scalp and body. There was no evidence of any malignancy. Eye involvement in the form of bilateral vascularising keratitis was present. There was bilateral mixed hearing loss. PMID:23130264

  20. Keratitis-Ichthyosis-Deafness syndrome: A rare congenital disorder

    Directory of Open Access Journals (Sweden)

    Vinay Shanker

    2012-01-01

    Full Text Available Keratitis-Icthyosis-Deafness syndrome is a rare congenital disorder characterized by keratitis, ichthyosis, and deafness. We report a 13 year old female child who presented with diffuse alopecia of the scalp and body. There was erythrokeratoderma of face and discrete hyperkeratotic hyperpigmented papulo plaque lesions on the body. Patient also had reticulate hyperkeratosis of palms and soles. There was history of recurrent episodes of folliculitis over the scalp and body. There was no evidence of any malignancy. Eye involvement in the form of bilateral vascularising keratitis was present. There was bilateral mixed hearing loss.

  1. Nelson syndrome: definition and management.

    Science.gov (United States)

    Barber, T M; Adams, E; Wass, J A H

    2014-01-01

    Nelson syndrome is an important complication of treatment with total bilateral adrenalectomy (TBA) for patients with refractory Cushing's disease. Although early cases of Nelson syndrome often presented with the clinical features of large sellar masses, the modern face of Nelson syndrome has changed primarily due to earlier detection (with highly resolved magnetic resonance imaging (MRI) and sensitive ACTH assays) and greater awareness of the condition, resulting in reduced morbidity and mortality. Although lack of administration of neoadjuvant pituitary radiotherapy post-TBA surgery may predict future development of Nelson syndrome, other predictive factors remain controversial. Therefore, Nelson syndrome should be screened for closely and long-term in all patients with a history of Cushing's disease and TBA. The diagnosis of Nelson syndrome remains controversial, and the pathogenesis of this condition is incompletely understood. Current hypotheses include the "released negative feedback" mechansism (residual pituitary corticotropinoma cells are "released" from the negative feedback effects of cortisol following TBA), and the "aggressive corticotropinoma" mechanism (Nelson syndrome is most likely to develop in those patients with refractory treatments - including TBA - for an underlying aggressive corticotropinoma). Effective management of Nelson syndrome with pituitary surgery and radiotherapy is often a challenge. Other therapies (such as Gamma Knife surgery and temozolomide) play an important role and merit further research into their efficacy and placement in the management pathway of Nelson syndrome. © 2014 Elsevier B.V. All rights reserved.

  2. A novel small deletion in the NHS gene associated with Nance-Horan syndrome

    OpenAIRE

    Li, Huajin; Yang, Lizhu; Sun, Zixi; Yuan, Zhisheng; Wu, Shijing; Sui, Ruifang

    2018-01-01

    Nance-Horan syndrome is a rare X-linked recessive inherited disease with clinical features including severe bilateral congenital cataracts, characteristic facial and dental abnormalities. Data from Chinese Nance-Horan syndrome patients are limited. We assessed the clinical manifestations of a Chinese Nance-Horan syndrome pedigree and identified the genetic defect. Genetic analysis showed that 3 affected males carried a novel small deletion in NHS gene, c.263_266delCGTC (p.Ala89TrpfsTer106), a...

  3. [Bilateral vestibular loss as a post-infection complication of yersiniosis?].

    Science.gov (United States)

    Bücheler, M; Löwenheim, H

    1997-08-01

    Yersinia infections other than plaque are caused by Yersinia pseudotuberculosis and Yersinia enterocolitica. Food and water contamination as well as animal-to-person and person-to-person contact are common pathways of transmission. Clinical manifestations include enteritis, enterocolitis, acute appendicitis, inflammation of the terminal ileum, and mesenteric adenitis. Y. enterocolitica may cause bacteremia with subsequent septicemia predominantly in patients with underlying illnesses such as diabetes mellitus or malignancy. More frequently enteritis is followed by immunological post-infectious syndromes such as arthritis and erythema nodosum. The present case report discusses bilateral vestibular loss possibly caused by an infection with Y. enterocolitica. A 27-year-old caucasian woman initially presented with the otologic symptom of spinning vertigo accompanied by nausea and vomiting. Physical exam revealed spontaneous nystagmus to the left. Bithermal caloric responses were absent. Pure tone audiometry showed a bilateral symmetric high-frequency sensorineural hearing loss. Neurologic exams did not reveal involvement of the central vestibular system. Perilymphatic fistula on the left side was excluded by tympanoscopy. Serology for rheumatoid factors and HLA B27 was negative. Lead or mercury intoxication was also excluded. In her medical history the patient reported intermittent watery diarrhea and stress dependent arthralgia that had commenced during a stay in Argentina three years ago. Serology was positive, revealing elevated titers for Y. enterocolitica type 3 (1:200) and type 9 (1:400). Bilateral vestibular loss is rare. The main cause is aminoglycoside ototoxicity or meningitis. Yersina infections have not yet been described as inducing disease of the labyrinth. Present pathophysiologic knowledge of yersinia infections is described as follows: After peroral infection, gastrointestinal permeability is increased. Low-molecular-weight substances may enter the

  4. [Familial Wolfram syndrome].

    Science.gov (United States)

    Bessahraoui, M; Paquis, V; Rouzier, C; Bouziane-Nedjadi, K; Naceur, M; Niar, S; Zennaki, A; Boudraa, G; Touhami, M

    2014-11-01

    Wolfram syndrome (WS) is a rare autosomal recessive progressive neurodegenerative disorder, and it is mainly characterized by the presence of diabetes mellitus and optic atrophy. Other symptoms such as diabetes insipidus, deafness, and psychiatric disorders are less frequent. The WFS1 gene, responsible for the disease and encoding for a transmembrane protein called wolframin, was localized in 1998 on chromosome 4p16. In this report, we present a familial observation of Wolfram syndrome (parents and three children). The propositus was a 6-year-old girl with diabetes mellitus and progressive visual loss. Her family history showed a brother with diabetes mellitus, optic atrophy, and deafness since childhood and a sister with diabetes mellitus, optic atrophy, and bilateral hydronephrosis. Thus, association of these familial and personal symptoms is highly suggestive of Wolfram syndrome. The diagnosis was confirmed by molecular analysis (biology), which showed the presence of WFS1 homozygous mutations c.1113G>A (p.Trp371*) in the three siblings and a heterozygote mutation in the parents. Our observation has demonstrated that pediatricians should be aware of the possibility of Wolfram syndrome when diagnosing optic atrophy in diabetic children. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  5. Bilateral Testicular Tumors Resulting in Recurrent Cushing Disease After Bilateral Adrenalectomy.

    Science.gov (United States)

    Puar, Troy; Engels, Manon; van Herwaarden, Antonius E; Sweep, Fred C G J; Hulsbergen-van de Kaa, Christina; Kamphuis-van Ulzen, Karin; Chortis, Vasileios; Arlt, Wiebke; Stikkelbroeck, Nike; Claahsen-van der Grinten, Hedi L; Hermus, Ad R M M

    2017-02-01

    Recurrence of hypercortisolism in patients after bilateral adrenalectomy for Cushing disease is extremely rare. We present a 27-year-old man who previously underwent bilateral adrenalectomy for Cushing disease with complete clinical resolution. Cushingoid features recurred 12 years later, with bilateral testicular enlargement. Hormonal tests confirmed adrenocorticotropic hormone (ACTH)-dependent Cushing disease. Surgical resection of the testicular tumors led to clinical and biochemical remission. Gene expression analysis of the tumor tissue by quantitative polymerase chain reaction showed high expression of all key steroidogenic enzymes. Adrenocortical-specific genes were 5.1 × 105 (CYP11B1), 1.8 × 102 (CYP11B2), and 6.3 × 104 (MC2R) times higher than nonsteroidogenic fibroblast control. This correlated with urine steroid metabolome profiling showing 2 fivefold increases in the excretion of the metabolites of 11-deoxycortisol, 21-deoxycortisol, and total glucocorticoids. Leydig-specific genes were 4.3 × 101 (LHCGR) and 9.3 × 100 (HSD17B3) times higher than control, and urinary steroid profiling showed twofold increased excretion of the major androgen metabolites androsterone and etiocholanolone. These distinctly increased steroid metabolites were suppressed by dexamethasone but unresponsive to human chorionic gonadotropin stimulation, supporting the role of ACTH, but not luteinizing hormone, in regulating tumor-specific steroid excess. We report bilateral testicular tumors occurring in a patient with recurrent Cushing disease 12 years after bilateral adrenalectomy. Using mRNA expression analysis and steroid metabolome profiling, the tumors demonstrated both adrenocortical and gonadal steroidogenic properties, similar to testicular adrenal rest tumors found in patients with congenital adrenal hyperplasia, suggesting the presence of pluripotent cells even in patients without congenital adrenal hyperplasia. Copyright © 2017 by the Endocrine Society

  6. Loin pain hematuria syndrome.

    Science.gov (United States)

    Taba Taba Vakili, Sahar; Alam, Tausif; Sollinger, Hans

    2014-09-01

    Loin pain hematuria syndrome is a rare disease with a prevalence of ∼0.012%. The most prominent clinical features include periods of severe intermittent or persistent unilateral or bilateral loin pain accompanied by either microscopic or gross hematuria. Patients with loin pain hematuria syndrome initially present with hematuria, flank pain, or most often both hematuria and flank pain. Kidney biopsies from patients with loin pain hematuria typically reveal only minor pathologic abnormalities. Further, loin pain hematuria syndrome is not associated with loss of kidney function or urinary tract infections. Loin pain hematuria syndrome-associated hematuria and pain are postulated to be linked to vascular disease of the kidney, coagulopathy, renal vasospasm with microinfarction, hypersensitivity, complement activation on arterioles, venocalyceal fistula, abnormal ureteral peristalsis, and intratubular deposition of calcium or uric acid microcrystals. Many patients with loin pain hematuria syndrome also meet criteria for a somatoform disorder, and analgesic medications, including narcotics, commonly are used to treat loin pain hematuria syndrome-associated pain. Interventional treatments include renal denervation, kidney autotransplantation, and nephrectomy; however, these methods should be used only as a last resort when less invasive measures have been tried unsuccessfully. In this review article, we discuss and critique current clinical practices related to loin pain hematuria syndrome pathophysiology, diagnosis, treatment, and prognosis. Copyright © 2014 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.

  7. Globus Pallidus Interna Deep Brain Stimulation in a Patient with Medically Intractable Meige Syndrome

    Directory of Open Access Journals (Sweden)

    Dae-Woong Bae

    2014-10-01

    Full Text Available Medical therapies in patients with Meige syndrome, including botulinum toxin injection, have been limited because of incomplete response or adverse side effects. We evaluated a patient with Meige syndrome who was successfully treated with deep brain stimulation (DBS in the globus pallidus interna (GPi. This case report and other previous reports suggest that bilateral GPi DBS may be an effective treatment for medically refractory Meige syndrome, without significant adverse effects.

  8. [Bilateral traumatic abducens nerve palsy without skull fracture or intracranial hematoma-a report of 3 cases and consideration of the mechanism of injury (author's transl)].

    Science.gov (United States)

    Takagi, H; Miyasaka, Y; Kuramae, T; Ohwada, T; Tsunoda, M

    1976-10-01

    Three cases of bilateral traumatic abducens nerve palsy were presented and the mechanism of damage to the abducens nerve was discussed in relation to the analysis of traumatic force at the time of impact and topographical anatomy of the abducens nerve in detail. Case 1. A 70 year old man sustained a traffic accident with one hour loss of consciousness. Physical examination revealed a contused area on the medial side of his right forehead. Neurological examination revealed bilateral abducens nerve palsy (Fig. 1). There were no ther cranial nerve abnormalities. Roentgenograms of the skull, including views of the base and orbit showed no fracture. At follow up examination 12 months later, bilateral Duane's retraction syndrome could be noticed with slight increase in size of the pupil on each side of lateral gaze (Fig. 2). Case 2. A 32 year old women sustained a traffic accident with 31 days of loss of consciousness. At the time of admission, bilateral abducens nerve palsy and slight left hemiparesis were noticed in semicomatose condition. Right carotid angiogtam showed no evidence of intracranial hematoma. One month later, the right eye began to abduct and 2 months later, the left eye began to abduct. Three months after the injury, bilateral abducens nerve palsy could no longer be demonstrated. No retraction syndrome was observed during this period. Case 3. A 3 year old boy sustained a traffic accident with 32 days of loss of consciousness. At the time of admission, neurological examination showed bilateral abducens palsy and left sided decerebrate posture in comatose condition. At the time of discharge 3 months after admission, bilateral abducens palsy, right hemiataxia, left spastic hemiparesis and scanning speach were noticed. Three months later, right eye began to abduct and 4 months later, the left eye began to abduct. At follow up examination 6 months later, there was no evidence of abducens nerve palsy. Topographical details of anatomy of the abducens nerve are

  9. Persistence of disturbed thalamic glucose metabolism in a case of Wernicke-Korsakoff syndrome.

    Science.gov (United States)

    Fellgiebel, Andreas; Scheurich, Armin; Siessmeier, Thomas; Schmidt, Lutz G; Bartenstein, Peter

    2003-10-30

    We report the case of a 40-year-old alcoholic male patient, hospitalized with an acute ataxia of stance and gait, ocular muscle weakness with nystagmus and a global apathetic-confusional state. After admission, an amnestic syndrome with confabulation was also observed and diagnosis of Wernicke-Korsakoff syndrome was made. Under treatment with intravenous thiamine, the patient recovered completely from gaze weakness and ataxia, whereas a severe amnestic syndrome persisted. Fluorodeoxyglucose (FDG) positron emission tomography (PET) showed bilateral thalamic and severe bilateral temporal-parietal hypometabolism resembling a pattern typical for Alzheimer's disease. Longitudinal assessment of the alcohol-abstinent and thiamine-substituted patient revealed improvements of clinical state and neuropsychological performance that were paralleled by recovered cerebral glucose metabolism. In contrast to metabolic rates that increased between 7.1% (anterior cingulate, left) and 23.5% (parietal, left) in cortical areas during a 9-month remission period, thalamic glucose metabolism remained severely disturbed over time (change: left +0.2%, right +0.3%).

  10. Mondini deformity in a case of Turner syndrome. A radiological finding.

    Science.gov (United States)

    Bodet Agustí, Eduard; Galido Ortego, Xavier; Ghani Martínez, Fares; García González, Begoña; Borràs Perera, Montserrat; Seara Gil, Angel

    2012-01-01

    Turner syndrome (TS) is the human being's most frequent sex chromosome abnormality. Progressive sensorineural hearing loss is documented in more than 50% of the women affected by this syndrome. Although Mondini defect is the cochlear congenital malformation most frequently identified in other polymalformative syndromes, it has rarely been reported in TS. We describe the case of a 32-year-old woman with TS who presented progressive sensorineural hearing loss. The computed tomography of the ears showed bilateral Mondini deformity. Copyright © 2010 Elsevier España, S.L. All rights reserved.

  11. Osteogenesis imperfecta with joint contractures: Bruck syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Blacksin, M.F. [Department of Radiology, University of Medicine and Dentistry of New Jersey, 150 Bergen St., Rm. C320, Newark, NJ 07103-2426 (United States); Pletcher, B.A. [Center for Human and Molecular Genetics, Department of Pediatrics, University of Medicine and Dentistry of New Jersey, Newark, New Jersey (United States); David, M. [Department of Radiology, Newark-Beth Israel Medical Center, Newark, New Jersey (United States)

    1998-02-01

    We describe an Egyptian boy with osteogenesis imperfecta who was born with thumb contractures and bilateral antecubital pterygia. He was seen at 16 months of age with femur and tibial fractures, thoracic vertebral compression fractures, scoliosis and Wormian bones. The findings are consistent with a diagnosis of Bruck syndrome. (orig.) With 1 fig., 5 refs.

  12. Connectivity-based parcellation of the thalamus explains specific cognitive and behavioural symptoms in patients with bilateral thalamic infarct.

    Directory of Open Access Journals (Sweden)

    Laura Serra

    Full Text Available A novel approach based on diffusion tractography was used here to characterise the cortico-thalamic connectivity in two patients, both presenting with an isolated bilateral infarct in the thalamus, but exhibiting partially different cognitive and behavioural profiles. Both patients (G.P. and R.F. had a pervasive deficit in episodic memory, but only one of them (R.F. suffered also from a dysexecutive syndrome. Both patients had an MRI scan at 3T, including a T1-weighted volume. Their lesions were manually segmented. T1-volumes were normalised to standard space, and the same transformations were applied to the lesion masks. Nineteen healthy controls underwent a diffusion-tensor imaging (DTI scan. Their DTI data were normalised to standard space and averaged. An atlas of Brodmann areas was used to parcellate the prefrontal cortex. Probabilistic tractography was used to assess the probability of connection between each voxel of the thalamus and a set of prefrontal areas. The resulting map of corticothalamic connections was superimposed onto the patients' lesion masks, to assess whether the location of the thalamic lesions in R.F. (but not in G. P. implied connections with prefrontal areas involved in dysexecutive syndromes. In G.P., the lesion fell within areas of the thalamus poorly connected with prefrontal areas, showing only a modest probability of connection with the anterior cingulate cortex (ACC. Conversely, R.F.'s lesion fell within thalamic areas extensively connected with the ACC bilaterally, with the right dorsolateral prefrontal cortex, and with the left supplementary motor area. Despite a similar, bilateral involvement of the thalamus, the use of connectivity-based segmentation clarified that R.F.'s lesions only were located within nuclei highly connected with the prefrontal cortical areas, thus explaining the patient's frontal syndrome. This study confirms that DTI tractography is a useful tool to examine in vivo the effect of focal

  13. Laparoscopic Removal of Streak Gonads in Turner Syndrome.

    Science.gov (United States)

    Mandelberger, Adrienne; Mathews, Shyama; Andikyan, Vaagn; Chuang, Linus

    To demonstrate the skills necessary for complete resection of bilateral streak gonads in Turner syndrome. Video case presentation with narration highlighting the key techniques used. The video was deemed exempt from formal review by our institutional review board. Turner syndrome is a form of gonadal dysgenesis that affects 1 in 2500 live births. Patients often have streak gonads and may present with primary amenorrhea or premature ovarian failure. Patients with a mosaic karyotype that includes a Y chromosome are at increased risk for gonadoblastoma and subsequent transformation into malignancy. Gonadectomy is recommended for these patients, typically at adolescence. Streak gonads can be difficult to identify, and tissue margins are often in close proximity to critical retroperitoneal structures. Resection can be technically challenging and requires a thorough understanding of retroperitoneal anatomy and precise dissection techniques to ensure complete removal. Laparoscopic approach to bilateral salpingo-oophorectomy of streak gonads. Retroperitoneal dissection and ureterolysis are performed, with the aid of the Ethicon Harmonic Ace, to ensure complete gonadectomy. Careful and complete resection of gonadal tissue in the hands of a skilled laparoscopic surgeon is key for effective cancer risk reduction surgery in Turner syndrome mosaics. Copyright © 2016 AAGL. Published by Elsevier Inc. All rights reserved.

  14. Ossification of the stylohyoid chain on computed tomograms - Eagle syndrome; Die Ossifikation der stylohyoidalen Kette im Computertomogramm - Eagle-Syndrom

    Energy Technology Data Exchange (ETDEWEB)

    Lugmayr, H; Krennmair, G [Krankenhaus St. Franziskus, Grieskirchen (Austria). Inst. fuer Radiologie; Lenglinger, F [Allgemeines Krankenhaus, Wels (Austria). Inst. fuer Radiologie

    1997-11-01

    The computed tomographic morphology of a typical Eagle syndrome is presented on the basis of a case history. In a 40-year-old female patient presenting with bilateral tinnitus, globus hystericus, and increasing hoarseness computed tomography revealed bilateral ossification of the stylohyoid ligament. The incidence of stylalgia is very low in comparison to the occurrence of a elongated styloid process or an ossified stylohyoid ligament. However, in cases of unexplained complaints in the head and neck region it should be considered in the differential diagnosis as it has therapeutic consequences. (orig.) [Deutsch] Anhand einer Kasuistik wird die computertomographische Morphologie eines typischen Eagle-Syndroms vorgestellt: Bei einem 40jaehrigen Patienten, der an beidseitigem Tinnitus, Globusgefuehl und zunehmender Heiserkeit litt, wurde computertomographisch eine beidseitige Ossifikation des Ligamentum stylohoideum nachgewiesen. Die Inzidenz einer Stylalgie ist verglichen mit der Praevalenz eines elongierten Processus styloideus oder einem verknoecherten Ligamentum stylochyoideum sehr selten. Sie sollte jedoch bei ungeklaerten Beschwerden im Kopf-Halsbereich differentialdiagnostisch in Erwaegung gezogen werden, da sie therapeutische Konsequenzen nach sich zieht. (orig.)

  15. Baraitser and Winter syndrome with growth hormone deficiency.

    Science.gov (United States)

    Chentli, Farida; Zellagui, Hadjer

    2014-01-01

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

  16. Fatal invasive aspergillosis: a rare co-infection with an unexpected image presentation in a patient with dengue shock syndrome.

    Science.gov (United States)

    Wang, Hui-Ching; Chang, Ko; Lu, Po-Liang; Tsai, Kun-Bow; Chen, Huang-Chi

    2017-03-01

    Pulmonary infiltration and pleural effusion caused by permeability syndrome are the hallmark of pulmonary manifestation of dengue cases. We report a 95-year-old chronic obstructive pulmonary disease case having dengue shock syndrome. Chest X-ray examination revealed diffuse lung infiltration. However, bilateral pneumotoceles were unexpectedly found in computed tomography (CT) images. Dengue virus type 2 infection was confirmed by virus culture, serology and reverse transcriptase-polymerase chain reaction. Profound shock with bilateral lung infiltration developed rapidly in 2 days with supportive care and empirical ampicillin/ sulbactam. Bronchoscopy revealed a whitish plaque over bilateral upper bronchi. Biopsy via bronchoscopy revealed moulds with vascular invasion. Culture of bronchial alveolar lavage yielded Aspergillus flavus. The patient died despite amphotericin B treatment, which was started since finding the whitish plaque with bronchoscopy examination. Besides to considering capillary leakage syndrome, our case report and literature review alert clinicians that CT and bronchoscopy may help to identify the true pathogen though all cases with concurrent dengue and Aspergillus infections had fatal outcomes. © 2015 John Wiley & Sons Ltd.

  17. A case of bilateral lower cranial nerve palsies after base of skull trauma with complex management issues: case report and review of the literature.

    Science.gov (United States)

    Lehn, Alexander Christoph; Lettieri, Jennie; Grimley, Rohan

    2012-05-01

    Fractures of the skull base can cause lower cranial nerve palsies because of involvement of the nerves as they traverse the skull. A variety of syndromes have been described, often involving multiple nerves. These are most commonly unilateral, and only a handful of cases of bilateral cranial nerve involvement have been reported. We describe a 64-year-old man with occipital condylar fracture complicated by bilateral palsies of IX and X nerves associated with dramatic physiological derangement causing severe management challenges. Apart from debilitating postural hypotension, he developed dysphagia, severe gastrointestinal dysmotility, issues with airway protection as well as airway obstruction, increased oropharyngeal secretions and variable respiratory control. This is the first report of a patient with traumatic bilateral cranial nerve IX and X nerve palsies. This detailed report and the summary of all 6 previous case reports of traumatic bilateral lower cranial nerve palsies illustrate clinical features, treatment strategies, and outcomes of these rare events.

  18. Bilateral posterior crystalline lens dislocations in an otherwise healthy child

    Directory of Open Access Journals (Sweden)

    AlShehri, Omar A.

    2017-10-01

    Full Text Available Introduction: Ectopia lentis is defined as a crystalline lens displacement, either partially or completely, due to zonular abnormalities. It can be a result of trauma, hereditary ocular disease, or part of systemic diseases, like Marfan syndrome and homocystinuria.Case description: We report a case of a medically free 16-year-old girl, who was referred to our hospital complaining of poor vision and a squint in both eyes since childhood. Her history included a traffic accident when she was one-year-old. She was previously diagnosed with alternating esotropia, which was treated with glasses, alternating patching, and bilateral Botox injections. On examination, she had a visual acuity of 6/7.5 with correction in the right eye and 6/6 with correction in the left eye. She had an esotropia of 60 prism diopters, which was partially corrected to 40 prism diopters for near and distance vision. Fundus examination showed myopic changes in each eye and dislocated lenses in the posterior pole at 6 o’clock. Our case was stable, so we used conservative management with contact lenses.Conclusion: Bilateral posterior lens dislocation is very rare. A proper examination is important and early diagnosis can prevent serious complications, such as retinal detachment or pupillary block glaucoma.

  19. Ossification of the stylohyoid chain on computed tomograms - Eagle syndrome

    International Nuclear Information System (INIS)

    Lugmayr, H.; Krennmair, G.; Lenglinger, F.

    1997-01-01

    The computed tomographic morphology of a typical Eagle syndrome is presented on the basis of a case history. In a 40-year-old female patient presenting with bilateral tinnitus, globus hystericus, and increasing hoarseness computed tomography revealed bilateral ossification of the stylohyoid ligament. The incidence of stylalgia is very low in comparison to the occurrence of a elongated styloid process or an ossified stylohyoid ligament. However, in cases of unexplained complaints in the head and neck region it should be considered in the differential diagnosis as it has therapeutic consequences. (orig.) [de

  20. Popliteal artery entrapment syndrome in a young girl

    International Nuclear Information System (INIS)

    Haidar, Salwa; Thomas, Karen; Miller, Stephen

    2005-01-01

    Popliteal artery entrapment syndrome (PAES) is well-described in adults, but is an uncommon cause of lower-limb pain in children. We present an 11.5-year-old girl with thrombosed aneurysm of the right popliteal artery, subsequently diagnosed with bilateral type I PAES. Multimodality illustration of the radiological findings is presented. (orig.)

  1. Sotos syndrome: An interesting disorder with gigantism.

    Science.gov (United States)

    Nalini, A; Biswas, Arundhati

    2008-07-01

    We report the case of a 16-year-old boy diagnosed to have Sotos syndrome, with rare association of bilateral primary optic atrophy and epilepsy. He presented with accelerated linear growth, facial gestalt, distinctive facial features, seizures and progressive diminution of vision in both eyes. He had features of gigantism from early childhood. An MRI showed that brain and endocrine functions were normal. This case is of interest, as we have to be aware of this not so rare disorder. In addition to the classic features, there were two unusual associations with Sotos syndrome in the patient.

  2. Sotos syndrome: An interesting disorder with gigantism

    Science.gov (United States)

    Nalini, A.; Biswas, Arundhati

    2008-01-01

    We report the case of a 16-year-old boy diagnosed to have Sotos syndrome, with rare association of bilateral primary optic atrophy and epilepsy. He presented with accelerated linear growth, facial gestalt, distinctive facial features, seizures and progressive diminution of vision in both eyes. He had features of gigantism from early childhood. An MRI showed that brain and endocrine functions were normal. This case is of interest, as we have to be aware of this not so rare disorder. In addition to the classic features, there were two unusual associations with Sotos syndrome in the patient. PMID:19893668

  3. Sotos syndrome: An interesting disorder with gigantism

    Directory of Open Access Journals (Sweden)

    Nalini A

    2008-01-01

    Full Text Available We report the case of a 16-year-old boy diagnosed to have Sotos syndrome, with rare association of bilateral primary optic atrophy and epilepsy. He presented with accelerated linear growth, facial gestalt, distinctive facial features, seizures and progressive diminution of vision in both eyes. He had features of gigantism from early childhood. An MRI showed that brain and endocrine functions were normal. This case is of interest, as we have to be aware of this not so rare disorder. In addition to the classic features, there were two unusual associations with Sotos syndrome in the patient.

  4. Bilateral tension pneumothorax related to acupuncture.

    Science.gov (United States)

    Tagami, Rumi; Moriya, Takashi; Kinoshita, Kosaku; Tanjoh, Katsuhisa

    2013-06-01

    We report on a patient with a rare case of bilateral tension pneumothorax that occurred after acupuncture. A 69-year-old large-bodied man, who otherwise had no risk factors for spontaneous pneumothorax, presented with chest pressure, cold sweats and shortness of breath. Immediately after bilateral pneumothorax had been identified on a chest radiograph in the emergency room, his blood pressure and percutaneous oxygen saturation suddenly decreased to 78 mm Hg and 86%, respectively. We confirmed deterioration in his cardiopulmonary status and diagnosed bilateral tension pneumothorax. We punctured his chest bilaterally and inserted chest tubes for drainage. His vital signs promptly recovered. After the bilateral puncture and drainage, we learnt that he had been treated with acupuncture on his upper back. We finally diagnosed a bilateral tension pneumothorax based on the symptoms that appeared 8 h after the acupuncture. Because the patient had no risk factors for spontaneous pneumothorax, no alternative diagnosis was proposed. We recommend that patients receiving acupuncture around the chest wall must be adequately informed of the possibility of complications and expected symptoms, as a definitive diagnosis can be difficult without complete information.

  5. Unilateral or bilateral laparoscopic ovarian drilling in polycystic ovary syndrome: a meta-analysis of randomized trials.

    Science.gov (United States)

    Abu Hashim, Hatem; Foda, Osama; El Rakhawy, Mohamed

    2018-04-01

    This systematic review and meta-analysis aimed to compare the effectiveness of unilateral vs. bilateral laparoscopic ovarian drilling (ULOD vs. BLOD) for improving fertility outcomes in infertile women with clomiphene-resistant polycystic ovary syndrome (PCOS) as well as its effect on ovarian reserve. Searches were conducted on PubMed, ScienceDirect, ClinicalTrials.gov, and CENTRAL databases from January 1984 to January 2017. Only randomized trials comparing ULOD with BLOD were included. The PRISMA Statement was followed. Main outcomes were ovulation and clinical pregnancy rates per woman randomized. Secondary outcomes were; live birth and miscarriage rates as well as postoperative serum anti-mullerian hormone (AMH) concentration and antral follicle count (AFC). Quality assessment was performed by the Cochrane Collaboration risk of bias tool. Eight eligible trials (484 women) were analyzed. No significant difference was found in rates of ovulation (OR 0.73; 95% CI 0.47-1.11), clinical pregnancy (OR 0.56; 95% CI 0.22-1.41), live birth (OR 0.77; 95% CI 0.28-2.10), or miscarriage (OR 0.90; 95% CI 0.33-2.84) when ULOD was compared with BLOD. The reduction in AMH was comparable between the two procedures (MD 0.64 ng/ml; 95% CI - 0.08 to 1.36). A significantly higher AFC at 6-month follow-up was found with dose-adjusted ULOD (MD 2.20; 95% CI 1.01-3.39). After carefully weighing up the well-known benefits of BLOD against a potential risk to ovarian reserve, clinicians could be advised to offer the fixed-dose ULOD to their infertile patients with clomiphene-resistant PCOS. This is concordant with the "primum non nocere" principal if LOD will be envisaged.

  6. Bilateral, independent juvenile nasopharyngeal angiofibroma: case report.

    Science.gov (United States)

    Mørkenborg, M-L; Frendø, M; Stavngaard, T; Von Buchwald, C

    2015-10-01

    Juvenile nasopharyngeal angiofibroma is a benign, vascular tumour that primarily occurs in adolescent males. Despite its benign nature, aggressive growth patterns can cause potential life-threatening complications. Juvenile nasopharyngeal angiofibroma is normally unilateral, originating from the sphenopalatine artery, but bilateral symptoms can occur if a large tumour extends to the contralateral side of the nasopharynx. This paper presents the first reported case of true bilateral extensive juvenile nasopharyngeal angiofibroma involving clinically challenging pre-surgical planning and surgical strategy. A 21-year-old male presented with increasing bilateral nasal obstruction and discharge. Examination revealed tumours bilaterally and imaging demonstrated non-contiguous tumours. Pre-operative angiography showed strictly ipsilateral vascular supplies requiring bilateral embolisation. Radical removal performed as one-step, computer-assisted functional endoscopic sinus surgery was performed. The follow-up period was uncomplicated. This case illustrates the importance of suspecting bilateral juvenile nasopharyngeal angiofibroma in patients presenting with bilateral symptoms. Our management, including successful pre-operative planning, enabled one-step total removal of both tumours and rapid patient recovery.

  7. Van der Woude syndrome: Management in the mixed dentition

    Directory of Open Access Journals (Sweden)

    Sonahita Agarwal

    2013-01-01

    Full Text Available This article presents the case of a patient with Van der Woude syndrome treated with orthodontic and orthopedic intervention in the mixed dentition stage. The patient had a bilateral cleft of the lip and alveolus accompanied by lip pits on the lower lip. Intra-orally, there was bilateral anterior and posterior cross-bite with a collapsed maxilla. The maxillary transverse deficiency was managed with orthopedic expansion and the second phase of treatment involved secondary alveolar bone grafting followed by retention with functional regulator-3. The mild maxillary retrognathia and deficient lip support was managed with dental compensation.

  8. Van der Woude syndrome: Management in the mixed dentition.

    Science.gov (United States)

    Agarwal, Sonahita; Dinesh, M R; Dharma, R M; Amarnath, B C

    2013-01-01

    This article presents the case of a patient with Van der Woude syndrome treated with orthodontic and orthopedic intervention in the mixed dentition stage. The patient had a bilateral cleft of the lip and alveolus accompanied by lip pits on the lower lip. Intra-orally, there was bilateral anterior and posterior cross-bite with a collapsed maxilla. The maxillary transverse deficiency was managed with orthopedic expansion and the second phase of treatment involved secondary alveolar bone grafting followed by retention with functional regulator-3. The mild maxillary retrognathia and deficient lip support was managed with dental compensation.

  9. Progressive Susac syndrome with bilateral visual loss and disability.

    Science.gov (United States)

    Entezari, Morteza; Karimi, Saeed; Feizi, Mohammadali

    2016-09-01

    Susac syndrome (SS) is a rare retinal-cochlear-cerebral disease with an unclear etiology. A 35-year-old man presented with sudden painless vision loss in the right eye and 2 months later in the left eye with hemiparesis, behavioral changes, and hearing loss. Ophthalmic examinations revealed multiple branch retinal artery occlusions (BRAOs) in both eyes. Brain magnetic resonance imaging showed inflammatory changes with multiple "punched-out" lesions in the corpus callosum which confirmed the diagnosis of SS. Despite intravenous and oral corticosteroid therapy, the disease progressed with the development of new BRAOs, low vision in both eyes, and disability. Prompt diagnosis and early treatment may save the vision and even patient's life.

  10. Bilateral internal laryngoceles mimicking asthma

    Directory of Open Access Journals (Sweden)

    Elif A Aksoy

    2013-01-01

    Full Text Available Laryngocele is an air-filled, abnormal dilation of the laryngeal saccule that extends upward within the false vocal fold, in communication with the laryngeal lumen. A case of 43-year-old male with bilateral internal laryngoceles, who has been treated as asthma for 4 years, is presented. The patient had dyspnea, cough, and excessive phlegm for a month and a late onset stridor. Flexible nasopharyngolaryngoscopy showed bilateral cystic enlargements of the false vocal folds and true vocal folds could not be visualized. Laryngeal CT without contrast enhancement showed bilateral internal laryngoceles. Submucosal total excision of bilateral cystic masses including parts of false vocal folds was performed. The symptoms resolved immediately after surgery. Although the incidence of internal laryngocele is rare, it should be remembered in the differential diagnosis of upper airway problems and diagnostic flexible nasopharnygolaryngoscopy is routinely indicated for airway evaluation in at-risk patients.

  11. Selenium-75-cholesterol imaging and computed tomography of the adrenal glands in differentiating the cause of Cushing's syndrome

    International Nuclear Information System (INIS)

    Miller, J.L.; Smith, J.A.; Mervis, B.; Roman, T.

    1983-01-01

    Measurement of 75 Se-cholesterol (Scintadren) uptake and computed tomography (CT) of the adrenal glands were compared as a means of differentiating the cause of Cushing's syndrome in 11 patients over a 2-year period. Quantitative Scintadren imaging differentiated adrenocorticotrophic hormone (ACTH)-dependent disease from local adrenocortical lesions as the cause of Cushing's syndrome in all the patients studied. CT of the adrenal glands rapidly and accurately detected the adrenal mass lesions in 2 cases and was effective in documenting bilateral hyperplasia due to ectopic ACTH-dependent disease. However, in entopic ACTH (pituitary)-dependent disease the adrenal glands were of normal thickness in all but 2 patients, who had bilateral hyperplasia. Scintadren imaging and CT are useful non-invasive procedures for differentiating local adrenal disease from ACTH-dependent disease as the cause of Cushing's syndrome and should be the initial investigations once a firm clinical and biochemical diagnosis of Cushing's syndrome has been made

  12. Magnetic Resonance Evaluation of Müllerian Remnants in Mayer-Rokitansky-Küster-Hauser Syndrome

    International Nuclear Information System (INIS)

    Yoo, Roh-Eul; Cho, Jeong Yeon; Kim, Sang Youn; Kim, Seung Hyup

    2013-01-01

    To analyze magnetic resonance imaging (MRI) findings of Müllerian remnants in young females clinically suspected of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome in a primary amenorrhea workup. Fifteen young females underwent multiplanar T2- and transverse T1-weighted MRI at either a 1.5T or 3.0T MR imager. Two gynecologic radiologists reached consensus decisions for the evaluation of Müllerian remnants, vagina, ovaries, and associated findings. All cases had bilateral uterine buds in the pelvic cavity, with unilateral cavitation in two cases. The buds had an average long-axis diameter of 2.64 ± 0.65 cm. In all cases, bilateral buds were connected with fibrous band-like structures. In 13 cases, the band-like structures converged at the midline or a paramedian triangular soft tissue lying above the bladder dome. The lower one-third of the vagina was identified in 14 cases. Fourteen cases showed bilateral normal ovaries near the uterine buds. One unilateral pelvic kidney, one unilateral renal agenesis, one mild scoliosis, and three lumbar sacralization cases were found as associated findings. Typical Müllerian remnants in MRKH syndrome consist of bilateral uterine buds connected by the fibrous band-like structures, which converge at the midline triangular soft tissue lying above the bladder dome

  13. Magnetic Resonance Evaluation of Müllerian Remnants in Mayer-Rokitansky-Küster-Hauser Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Yoo, Roh-Eul; Cho, Jeong Yeon; Kim, Sang Youn; Kim, Seung Hyup [Department of Radiology, Seoul National University Hospital, Seoul 110-744 (Korea, Republic of)

    2013-07-01

    To analyze magnetic resonance imaging (MRI) findings of Müllerian remnants in young females clinically suspected of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome in a primary amenorrhea workup. Fifteen young females underwent multiplanar T2- and transverse T1-weighted MRI at either a 1.5T or 3.0T MR imager. Two gynecologic radiologists reached consensus decisions for the evaluation of Müllerian remnants, vagina, ovaries, and associated findings. All cases had bilateral uterine buds in the pelvic cavity, with unilateral cavitation in two cases. The buds had an average long-axis diameter of 2.64 ± 0.65 cm. In all cases, bilateral buds were connected with fibrous band-like structures. In 13 cases, the band-like structures converged at the midline or a paramedian triangular soft tissue lying above the bladder dome. The lower one-third of the vagina was identified in 14 cases. Fourteen cases showed bilateral normal ovaries near the uterine buds. One unilateral pelvic kidney, one unilateral renal agenesis, one mild scoliosis, and three lumbar sacralization cases were found as associated findings. Typical Müllerian remnants in MRKH syndrome consist of bilateral uterine buds connected by the fibrous band-like structures, which converge at the midline triangular soft tissue lying above the bladder dome.

  14. An Unusual Case of Neuralgic Amyotrophy Presenting with Bilateral Phrenic Nerve and Vocal Cord Paresis

    Directory of Open Access Journals (Sweden)

    F. Holtbernd

    2011-02-01

    Full Text Available Background: Neuralgic amyotrophy (brachial plexus neuropathy, brachial plexus neuritis, or Parsonage-Turner syndrome is an uncommon inflammatory condition typically characterized by acute and severe shoulder pain followed by paresis with muscle weakness and atrophy of the upper limb or shoulder girdle. We report an unusual clinical manifestation of neuralgic amyotrophy, namely bilateral phrenic nerve palsy with concomitant laryngeal paresis. Case Report: A 55-year-old male presented with orthopnea and aphonia after an episode of bilateral shoulder pain preceded by an upper respiratory tract infection. Spirometry, chest X-ray and videolaryngoscopy revealed bilateral and simultaneous paresis of the diaphragm and the vocal cords. Clinical examination at admission and at the 2-month follow-up did not show upper limb weakness or atrophy, except for a mild atrophy of the right supraspinatus muscle. An electromyography of the upper limb muscles and nerve conduction studies did not reveal signs of denervation. Analysis of the cerebrospinal fluid and an MRI of the neuraxis were unremarkable. After treatment with prednisolone, vocal cord function markedly improved within 8 weeks, whereas paresis of the diaphragm persisted. Conclusion: Shoulder pain followed by diaphragmatic paralysis with dyspnea and hoarseness may be a manifestation of neuralgic amyotrophy even if upper limb or shoulder girdle palsies are absent.

  15. The effect of dimerizing domains and basic residues on in vitro and in vivo assembly of Mason-Pfizer monkey virus and Human immunodeficiency virus

    Czech Academy of Sciences Publication Activity Database

    Böhmová, Karolína; Hadravová, Romana; Štokrová, Jitka; Tůma, R.; Ruml, T.; Pichová, Iva; Rumlová, Michaela

    2010-01-01

    Roč. 84, č. 4 (2010), s. 1977-1988 ISSN 0022-538X R&D Projects: GA MŠk 1M0508; GA ČR GA204/09/1388 Grant - others:EUROCORES(XE) ERAS-CT-2003-980409 Institutional research plan: CEZ:AV0Z40550506 Keywords : Mason-Pfizer Monkey Virus * Human Immunodeficiency Virus * assembly * NC Subject RIV: CC - Organic Chemistry Impact factor: 5.189, year: 2010

  16. Bilateral optic nerve head drusen with chorioretinal coloboma in the right eye

    Directory of Open Access Journals (Sweden)

    Ali Reza Dehghani

    2016-01-01

    Full Text Available Chorioretinal coloboma is a congenital defect of the eye caused by improper closure of the embryonic fissure. Optic nerve head drusen (ONHD are white calcareous deposits that are generally asymptomatic. We report a very rare association of both in a healthy patient with no any systemic syndrome. A 16-year-old man was referred to our clinic from suffering blurred vision. Best corrected visual acuity of the right eye was 6/10 and 10/10 in the left one. External ocular and slit lamp examination were normal. Dilated ophthalmoscopy showed marked swelling in both optic nerves and chorioretinal coloboma in the right eye inferiorly. Ultrasonography showed an echodense structure with acoustic shadowing in both eyes consistent with buried ONHD. Visual field testing showed normal field in the left eye and moderate superior field depression in the right eye corresponding to inferior coloboma in funduscopy. Results of general medical and neurologic, cardiologic, and other examinations were normal. To the best our knowledge combination of bilateral ONHD and unilateral chorioretinal coloboma in a healthy patient with no any systemic syndrome has not been published in the literature. We reported this very rare association and recommended examine eyes and other body organs. In such cases that coloboma is associated with ONHD, we should keep in mind Noonan syndrome. The diagnosis of Noonan syndrome is clinical and confirm by the consultant pediatricians and clinical geneticists.

  17. Bilateral inferior petrosal sinus sampling in the diagnosis of Cushing disease

    Directory of Open Access Journals (Sweden)

    Deipolyi AR

    2015-04-01

    Full Text Available Amy R Deipolyi,1 Rahmi Oklu21Vascular and Interventional Radiology, NYU Langone Medical Center, New York, NY, USA; 2Division of Vascular and Interventional Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USAAbstract: Bilateral inferior petrosal sinus sampling (BIPSS is a minimally invasive procedure performed in the workup of adrenocorticotropic hormone (ACTH-dependent Cushing syndrome (CS. Because noninvasive tests in the evaluation of CS patients lack sensitivity, BIPSS is the gold standard in diagnosing Cushing disease (CD, which is a pituitary source of excess ACTH. Here, the pathophysiology of CD and procedural details of BIPSS are reviewed.Keywords: pituitary adenoma, Cushing disease, inferior petrosal sinus, venous sampling

  18. Simultaneous and staged bilateral total hip arthroplasty

    DEFF Research Database (Denmark)

    Lindberg-Larsen, Martin; Joergensen, Christoffer Calov; Husted, Henrik

    2013-01-01

    Bilateral total hip arthroplasty (BTHA) and bilateral simultaneous total hip arthroplasty (BSTHA) are done increasingly. Previous studies evaluating outcomes after bilateral procedures have found different results. The aim of this study was to investigate length of hospital stay (LOS), 30 days...

  19. Bilateral spontaneous hemotympanum: Case report

    Directory of Open Access Journals (Sweden)

    Economou Nicolas C

    2006-10-01

    Full Text Available Abstract Background The most common causes of hemotympanum are therapeutic nasal packing, epistaxis, blood disorders and blunt trauma to the head. Hemotympanum is characterized as idiopathic, when it is detected in the presence of chronic otitis media. A rare case of spontaneous bilateral hemotympanum in a patient treated with anticoagulants is presented herein. Case presentation A 72-year-old male presented with acute deterioration of hearing. In the patient's medical history aortic valve replacement 1 year before presentation was reported. Since then he had been administered regularly coumarinic anticoagulants, with INR levels maintained between 3.4 and 4.0. Otoscopy revealed the presence of bilateral hemotympanum. The audiogram showed symmetrical moderately severe mixed hearing loss bilaterally, with the conductive component predominating. Tympanograms were flat bilaterally with absent acoustic reflexes. A computerized tomography scan showed the presence of fluid in the mastoid and middle ear bilaterally. Treatment was conservative and consisted of a 10-day course of antibiotics, anticongestants and temporary interruption of the anticoagulant therapy. After 3 weeks, normal tympanic membranes were found and hearing had returned to previous levels. Conclusion Anticoagulant intake should be included in the differential diagnosis of hemotympanum, because its detection and appropriate treatment may lead to resolution of the disorder.

  20. Managing the risk of cancer in Cowden syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Hammami Sonia

    2012-07-01

    Full Text Available Abstract Introduction Cowden syndrome is a rare cancer predisposition syndrome inherited in an autosomal-dominant fashion. The syndrome is characterized by hamartomatous polyps that affect multiple organs: skin, mucous membranes, thyroid, breast, gastrointestinal tract, endometrium and brain. It is also associated with an increased risk of developing malignancy in many tissues but especially breast, thyroid and endometrium. Case presentation We present the case of a 30-year-old Tunisian woman with mental retardation who presented to our facility with rectal hamartomatous polyps. Her medical history included fibrocystic disease of the breast over the last three years. A physical examination revealed macrocephaly, hyperkeratotic papules on the mid-facial skin, palmoplantar keratosis and oral mucosal papillomatosis. A breast examination revealed nodular breast tissue bilaterally and a diffuse thyroid goiter. Our patient was clinically euthyroid. A total thyroidectomy was performed. A histopathologic examination revealed thyroid papillary carcinoma. A gastrointestinal evaluation revealed esophageal and gastric polyps. Biopsies showed hyperplastic and adenomatous lesions associated with Helicobacter pylori. A final diagnosis of Cowden syndrome was made according to the syndrome testing criteria adapted by the US National Comprehensive Cancer Network. A prophylactic bilateral mastectomy was proposed but refused by our patient. Our patient was kept under surveillance for breast and colorectal malignancies. Conclusions Early and accurate diagnosis of Cowden syndrome is essential because it is a cancer predisposition syndrome that carries an increased risk for developing malignancy in many tissues, especially breast and thyroid. For this reason, education regarding the signs and symptoms of cancer is important. All patients must be screened for malignancies and options for prophylactic mastectomy should be discussed. Guidelines for cancer screening