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  1. Budd-Chiari Syndrome

    National Research Council Canada - National Science Library

    Tomáš Grus; Lukáš Lambert; Gabriela Grusová; Rohan Banerjee; Andrea Burgetová

    2017-01-01

    Budd-Chiari syndrome (BCS) is a rare disease with an incidence of 0.1 to 10 per million inhabitants a year caused by impaired venous outflow from the liver mostly at the level of hepatic veins and inferior vena cava...

  2. Imaging of Budd-Chiari syndrome

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    Buckley, O.; O' Brien, J.; Snow, A.; Stunell, H.; Torreggiani, W.C. [Adelaide and Meath Hospital, Incorporating the National Children' s Hospital (AMNCH), Department of Radiology, Dublin 24 (Ireland); Lyburn, I. [Cheltenham Hospital, Department of Radiology, Cheltenham (United Kingdom); Munk, P.L. [Vancouver General Hospital, Department of Radiology, Vancouver (Canada)

    2007-08-15

    Budd-Chiari syndrome occurs when venous outflow from the liver is obstructed. The obstruction may occur at any point from the hepatic venules to the left atrium. The syndrome most often occurs in patients with underlying thrombotic disorders such as polycythemia rubra vera, paroxysmal nocturnal hemoglobinuria and pregnancy. It may also occur secondary to a variety of tumours, chronic inflammatory diseases and infections. Imaging plays an important role both in establishing the diagnosis of Budd-Chiari syndrome as well as evaluating for underlying causes and complications such as portal hypertension. In this review article, we discuss the role of modern imaging in the evaluation of Budd-Chiari syndrome. (orig.)

  3. Budd-Chiari Syndrome

    Directory of Open Access Journals (Sweden)

    Tomáš Grus

    2017-09-01

    Full Text Available Budd-Chiari syndrome (BCS is a rare disease with an incidence of 0.1 to 10 per million inhabitants a year caused by impaired venous outflow from the liver mostly at the level of hepatic veins and inferior vena cava. Etiological factors include hypercoagulable conditions, myeloprolipherative diseases, anatomical variability of the inferior vena cava, and environmental conditions. Survival rates in treated patients range from 42 to 100% depending on the etiology and the presence of risk factors including parameters of Child-Pugh score, sodium and creatinine plasma levels, and the choice of treatment. Without treatment, 90% of patients die within 3 years, mostly due to complications of liver cirrhosis. BCS can be classified according to etiology (primary, secondary, clinical course (acute, chronic, acute or chronic lesion, and morphology (truncal, radicular, and venooclusive type. The diagnosis is established by demonstrating obstruction of the venous outflow and structural changes of the liver, portal venous system, or a secondary pathology by ultrasound, computed tomography, or magnetic resonance. Laboratory and hematological tests are an integral part of the comprehensive workup and are invaluable in recognizing hematological and coagulation disorders that may be identified in up to 75% of patients with BCS. The recommended therapeutic approach to BCS is based on a stepwise algorithm beginning with medical treatment (a consensus of expert opinion recommends anticoagulation in all patients, endovascular treatment to restore vessel patency (angioplasty, stenting, and local thrombolysis, placement of transjugular portosystemic shunt (TIPS, and orthotopic liver transplantation as a last resort rescue treatment.

  4. Budd-chiari syndrome caused by diaphragmatic hernia of the liver: a case report

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    Song, Jae Min; Yoon, Jung Won; Kim, Jae Wook; Chung, Woo Kyoung; Chung, Hee Sun; Kim, Joo Hyung; Choi, Jun Ho; Kim, Seung Ho [Armed Forces Capital Hospital, Seongnam (Korea, Republic of)

    2007-01-15

    Budd-Chiari syndrome is an uncommon disorder, and it is caused by obstruction of the hepatic venous out-flow or inferior vena cava above the hepatic vein. It may result from a large number of conditions, including primary congenital obstructions of the hepatic veins or inferior vena cava by webs or bands. Secondary causes include trauma, polycythemia vera, chronic leukemia, pregnancy, tumors and use of oral contraceptives. No definitive etiologic factors have been identified in two thirds of all cases. We recently experienced a case of Budd-Chiari syndrome caused by diaphragmatic hernia in 21-year-old man. Postoperative follow up CT showed normal venous flow after reintroduction of the liver into the abdominal cavity and closure of the diaphragm defect.

  5. Essential thrombocytosis and antiphospholipid antibody syndrome causing chronic Budd-Chiari syndrome.

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    Yadav, Dinesh; Chandra, Jagdish; Sharma, Sunita; Singh, Varinder

    2012-04-01

    Essential thrombocytosis is extremely rare in children. However, when present, it is associated with increased prevalence of antiphospholipid antibodies and thrombo-hemorrhagic complications. The authors report here a child with Budd-Chiari Syndrome resulting from essential thrombocytosis and associated antiphospholipid antibodies. A 13- y-old boy presented with microcytic hypochromic anemia, hepatosplenomegaly and thrombocytosis. CT scan demonstrated calcified thrombus in inferior vena cava (IVC). Diagnosis of essential thrombocytosis was considered in view of persistent thrombocytosis, antiphospholipid antibodies, bone marrow showing increased number, clusters and giant forms of megakaryocytes and IVC thrombosis. He was started on warfarin prophylaxis and did not have thrombotic recurrence on follow up.

  6. Budd-Chiari Syndrome in a Patient with Hepatitis C

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    Joseph Frankl

    2016-01-01

    Full Text Available Chronic Budd-Chiari syndrome can present with cirrhosis and signs and symptoms similar to those of other chronic liver diseases. We present a case of Budd-Chiari syndrome discovered during attempted transjugular intrahepatic portosystemic shunting in a patient with decompensated cirrhosis believed to be secondary to hepatitis C. Although the patient had hepatocellular carcinoma, the Budd-Chiari syndrome was a primary disease due to hepatic venous webs. Angioplasty was performed in this case, which resolved the patient’s symptoms related to portal hypertension. Follow-up venography 5 months after angioplasty demonstrated continued patency of the hepatic veins. A biopsy was obtained in the same setting, which showed centrilobular fibrosis indicating that venous occlusion was indeed the cause of cirrhosis. It is important to consider a second disease when treating a patient with difficult to manage portal hypertension.

  7. [Budd-Chiari syndrome: the CT image].

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    Becker, W

    1983-09-01

    The article reports on the CT image of a venous thrombosis of the liver with severe parenchymal damage (Budd-Chiari's syndrome) in a young woman, resulting in her death. The x-ray morphology image showed a liver pattern of reduced density in spot form with hepatomegaly and ascites. The hypodense areas were both circumscribed and disseminated over both lobes with density values between +15 and +30 HE. Enlargement of the lobus caudatus is considered as typical of the disease (4, 7).

  8. Factor V G1691A (Leiden is a major etiological factor in Egyptian Budd-Chiari syndrome patients

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    Tawhida Y. Abdel Ghaffar

    2011-12-01

    Full Text Available Objective: Budd-Chiari syndrome is a multifactorial disease in which several prothrombotic disorders may predispose patients to the development of thrombosis at this uncommon location (hepatic veins. The aim of this study was to determine the prevalence and characteristics of inherited thrombophilia in Egyptian Budd-Chiari syndrome patients.Materials and Methods: The study included 47 Budd-Chiari syndrome patients (20 children and 27 adults. Genotyping of Factor V G1691A (Leiden, prothrombin G20210A (PT, and methylenetetrahydrofolate reductase C677T were performed using real-time PCR and fluorescence melting curve detection analysis.Results: Factor V Leiden was observed in 29 patients (61.7%. It is the only factor that caused Budd-Chiari syndrome in 18 of the patients and in 5 of the patients with inferior vena cava involvement. Myeloproliferative disease was noted in 12 (25.5% patients, antiphospholipid syndrome in 5 (10.6%, and Behcet’s disease in 3 (6.4%. Interestingly, 3 of the children with Budd-Chiari syndrome had lipid storage disease.Conclusion: Factor V Leiden was a major etiological factor in Egyptian Budd-Chiari syndrome patients, which may have been related to the high frequency of this mutation in the study region. Factor V Leiden was also a strong thrombophilic factor and the leading cause of inferior vena cava thrombosis in these patients. Lipid storage disease should be included as a risk factor for Budd-Chiari syndrome.

  9. Budd-Chiari Syndrome: New insights in Pathogenesis, Management and Prognosis

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    S. Darwish Murad (Sarwa)

    2008-01-01

    textabstractBudd-Chiari Syndrome is a rare, challenging clinical condition which is characterised by a hepatic venous outflow obstruction, usually caused by a thrombotic occlusion at the level of the small hepatic veins until the entrance of the inferior vena cava into the right atrium. It

  10. [Thrombosis of the suprahepatic veins (Budd-Chiari syndrome) and polycythemia. A propos of 1 case].

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    Michoud, J J; Henchoz, L; Schmidt, P M; Hofstetter, J R

    1975-12-13

    A case is described of Budd-Chiari syndrome associated with polyglobulism in a 31-year-old subject. The connexion between Budd-Chiari syndrome and polyglobulism as a secondary symptom or a sign of a myeloproliferative syndrome is discussed.

  11. Budd-chiari syndrome and renal arterial neurysms due to Behcet disease: a rare association.

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    Batur, Abdussamet; Dorum, Meltem; Yüksekkaya, Hasan Ali; Koc, Osman

    2015-01-01

    Behcet's disease is a multisystemic vasculitis of unknown etiology with a chronic relapsing course. Vasculitis in Behcet's disease with predominant vascular involvement is the only vasculitis that affects both arteries and veins of any size. Involvement of the renal artery and inferior vena cava is rare among the arteries and veins, respectively. When disease affect the veins, it is in the form of thrombosis. Arterial complications include aneurysms, stenosis and occlusions. Both rupture of arterial aneurysm and occlusion of suprahepatic veins, causing Budd-Chiari syndrome, are associated with a high mortality rate. Vascular involvement is more common in male patients than in female patients. Men and patients with a younger age of onset present with a more severe prognosis. In this case report, we describe a very rare cause of intrarenal arterial aneurysm's rupture with previous Budd-Chiari syndrome due to Behcet's disease and successful angiographic embolization of actively bleeding aneurysm.

  12. Hepatic caudate vein in Budd-Chiari syndrome: Depiction by using magnetic resonance imaging

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    Tang Wei [Department of Radiology, Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan 637000 (China); Zhang Xiaoming, E-mail: zhangxm@nsmc.edu.cn [Department of Radiology, Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan 637000 (China); Yang Lin [Department of Radiology, Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan 637000 (China); Mitchell, Donald G. [Department of Radiology, Thomas Jefferson University Hospital, 132 S 10th Street, 1094 Main Bldg, Philadelphia, PA 19107 (United States); Zeng Nanlin; Zhai Zhaohua [Department of Radiology, Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan 637000 (China)

    2011-01-15

    Objective: To study the visibility of the caudate vein and its diameter on MR imaging in healthy people and in patients with Budd-Chiari syndrome. Materials and methods: In this study there were 14 patients with Budd-Chiari syndrome and 54 healthy subjects without hepatic lesion or liver disease, all of whom had upper abdominal enhanced MRI. The visibility of the caudate vein and its diameter on MR images was compared between Budd-Chiari patients and healthy subjects, and among Budd-Chiari patients, the correlation between the visibility of caudate vein and extrahepatic collaterals were compared. Results: Caudate vein was noted in 64% of patients with Budd-Chiari syndrome and in 7% of healthy subjects (P = 0.000). The diameter of the caudate vein visualized on MR imaging in Budd-Chiari syndrome was significantly larger than that in healthy group (7.3 {+-} 3.9 mm vs 2.6 {+-} 0.6 mm, P = 0.037). Among Budd-Chiari patients, both caudate vein and extrahepatic collateral veins were noted in 9 patients, only extrahepatic collateral veins were noted in 4 patients and neither caudate vein nor extrahepatic collateral veins were noted in 1 patient. No correlation was found between the visibility of caudate vein and that of extrahepatic collateral vein in patients with Budd-Chiari (P = 0.375). Conclusion: Gadolinium enhanced dynamic MR imaging can visualize hepatic caudate vein frequently. The visibility and dilation of hepatic caudate veins on MR imaging in Budd-Chiari syndrome were more frequent than in control subjects. MR depiction of a caudate vein may help differentiate Budd-Chiari from cirrhosis.

  13. Fibrinolysis status in the Budd-Chiari syndrome in China.

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    Ke, Zhang; Hao, Xu; Ning, Wei; Zu, Mao-heng; Fun, Yu-fei

    2015-10-01

    Pathogenesis and clinical characteristics of the Budd-Chiari syndrome (BCS) in Asia are somewhat different from the ones observed in Western countries. Obstruction of the inferior vena cava (IVC) or of the hepatic veins is caused to a greater extent by membranous webs than by thrombosis. Impaired fibrinolysis has been found in European patients with BCS, but its status in Chinese patients with this condition is still unknown. To explore the characteristics of fibrinolysis in BCS patients in this country, we measured the euglobulin lysis time (ELT) for overall fibrinolysis and the plasma levels of five fibrinolytic components in 65 Chinese patients with BCS and 43 healthy controls. In patients, ELTs were slightly shorter than in controls (mean, 293 vs. 357 min, P 54 years; mean ELT = 242, 198, and 289 min, respectively, all P 0.05). ELT in the subgroup without thrombosis was shorter than in controls (mean, 288 vs. 358 min, P 0.05). By and large, overall fibrinolytic potential was slightly increased in Chinese patients with BCS in this study, but fibrinolysis differed according to its baseline characteristics. Compared with the one seen in BCS patients from Western countries, BCS in China exhibits certain special changes in fibrinolysis and we were able to explain some of these changes.

  14. Diagnosis and Management of Budd Chiari Syndrome: An Update

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    Copelan, Alexander, E-mail: alexander.copelan@beaumont.edu [William Beaumont Hospital, Diagnostic Radiology Department (United States); Remer, Erick M., E-mail: remere1@ccf.org; Sands, Mark, E-mail: sandsm@ccf.org [Cleveland Clinic, Imaging Institute (United States); Nghiem, Hanh, E-mail: HNghiem@beaumont.edu [William Beaumont Hospital, Diagnostic Radiology Department (United States); Kapoor, Baljendra, E-mail: kapoorb@ccf.org [Cleveland Clinic, Imaging Institute (United States)

    2015-02-15

    Imaging plays a crucial role in the early detection and assessment of the extent of disease in Budd Chiari syndrome (BCS). Early diagnosis and intervention to mitigate hepatic congestion is vital to restoring hepatic function and alleviating portal hypertension. Interventional radiology serves a key role in the management of these patients. The interventionist should be knowledgeable of the clinical presentation as well as key imaging findings, which often dictate the approach to treatment. This article concisely reviews the etiology, pathophysiology, and clinical presentation of BCS and provides a detailed description of imaging and treatment options, particularly interventional management.

  15. Budd-Chiari Syndrome: Two Cases with Different Courses

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    Shinjiro Inomata

    2008-08-01

    Full Text Available We report two cases of Budd-Chiari syndrome. Case 1: A 57-year-old man presented with leg edema and esophageal varices. Cavography showed obstruction of the inferior vena cava with antiphospholipid syndrome. Further, the patient showed positive serology for hepatitis C virus and consumed large quantities of alcohol. Percutaneous transluminal angioplasty was performed on this patient and anticoagulants administered; leg edema and esophageal varices were ameliorated although liver biopsy showed cirrhosis without evident congestion. More than 9 months since the diagnosis, restenosis of the inferior vena cava has not occurred. Case 2: A 73-year-old woman presented abdominal pain but no edema or varices. Cavography showed membranous obstruction of the inferior vena cava which required no therapy. Manifestation of portal hypertension was not present and liver function was maintained although liver biopsy showed obvious congestion. These cases showed untypical features against histopathology, and careful observation will be required for emergence of hepatocellular carcinoma.

  16. Current management of the Budd-Chiari syndrome.

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    Klein, A S; Sitzmann, J V; Coleman, J; Herlong, F H; Cameron, J L

    1990-08-01

    Twenty-six patients with the Budd-Chiari syndrome were treated surgically at the Johns Hopkins Hospital. Twenty-one of the patients were female and five were male, with a median age at diagnosis of 37 years. Nine patients had polycythemia vera, 6 were receiving estrogen therapy, 5 had a previous hepatitis A or B infection, and 4 had cirrhosis. There was one case each of hepatic malignancy, paroxysmal nocturnal hemoglobinuria, and idiopathic thrombocytopenic purpura. In five cases no etiologic factors or associated disorders were identified. Ascites was the most common presenting feature in this group of patients. Hepatic function at the time of diagnosis, as measured by standard serum chemistries, was only minimally abnormal. The diagnosis of the Budd-Chiari syndrome was confirmed in all 26 patients by hepatic vein catheterization. Inferior vena cavography was also performed and revealed caval occlusion in 4 patients, significant caval obstruction in 13 patients, and a normal vena cava in 9 patients. Interpretation of the vena cavogram was helpful in selecting the appropriate surgical procedure for each patient. Twenty-three of the twenty-six patients underwent percutaneous liver biopsy before operation, with no morbidity or mortality. Four patients had well-established cirrhosis noted on biopsy. Thirty mesenteric-systemic venous shunts were performed on the 26 patients. In 11 patients a mesocaval shunt was performed and in one instance conversion to a mesoatrial shunt was required as a second procedure. In 15 patients a mesoatrial shunt was performed as the initial procedure. Graft thrombosis occurring in 2 of these 15 patients prompted one revision in 1 patient and 2 revisions in the second patient. After mesenteric-systemic venous shunt, eight of the patients (31%) died before discharge from the hospital. The remaining 18 patients in this series were discharged from the hospital alive and well with patent shunts. Patients were followed for a median of 43 months

  17. Budd Chiari Syndrome in a Fifteen-Year Old Girl with Systemic ...

    African Journals Online (AJOL)

    Budd Chiari Syndrome is a rare disease that results from the complication of venous thrombosis. In this case report, the syndrome is being reported in a 15 year old young Pakistani girl first diagnosed with Systemic Lupus Erythematosus (SLE) two years earlier. She was one of those on a one year regular follow-up in the ...

  18. The prognostic value of histology in the assessment of patients with Budd-Chiari syndrome

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    Tang, TJ; Batts, KP; de Groen, PC; van Hoek, B; Haagsma, EB; Hop, WCJ; Janssen, HLA

    Background/Aims: It is unclear whether treatment of patients with Budd-Chiari syndrome (BCS) should be based on liver histology, as large histopathological studies have not been performed. We investigated the relationship between the histopathological findings and survival. Methods: We studied the

  19. Subacute Budd-Chiari syndrome associated with polycythemia vera and factor V Leiden mutation

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    Simsek, S; Verheesen, RV; Haagsma, EB; Lourens, J

    We describe a 48-year-old caucasian woman with a subacute Budd-Chiari syndrome attributed to the presence of polycythaemia vera, heterozygosity for the factor V Leiden mutation and the use of an oral contraceptive pill. Two diagnostic pitfalls were encountered. First, on CT scanning of the abdomen

  20. Le syndrome de Budd-Chiari: une complication rare de la ...

    African Journals Online (AJOL)

    L'atteinte hépatique au cours de la sarcoïdose est une localisation fréquente, habituellement asymptomatique. La cholestase anictérique et l'hypertension portale représentent ses principales complications. Le syndrome de Budd-Chiari est une complication peu connue qui demeure exceptionnelle. Nous rapportons un ...

  1. Budd-Chiari syndrome in urology: Impact on nephrectomy for advanced renal cell carcinoma

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    Samir P Shirodkar

    2011-01-01

    Full Text Available Objectives : Budd-Chiari syndrome (BCS is a poorly understood entity in urology. It results from obstruction of the hepatic veins and the subsequent complications. It has been infrequently reported to be secondary to hepatic venous obstruction from invasion by an inferior vena cava (IVC tumor thrombus in renal cell carcinoma (RCC. We report the largest known series of patients with RCC and BCS. Patients and Methods : Ten patients presented to a tertiary hospital with locally advanced RCC with IVC tumor thrombus. All were evaluated and had clinical or radiographic evidence of BCS. All underwent nephrectomy, IVC thrombectomy or ligation, and tumor removal from the hepatic veins. The perioperative and pathological factors were measured. These included estimated blood loss (EBL and transfusions. Inpatient factors including duration of intubation, length of intensive care unit (ICU stay, and overall length of stay (LOS were recorded. The tumor-free status was evaluated. Results : The average age was 59 years. No intraoperative deaths occurred. Two intraoperative complications were noted. The mean EBL was 4244 cc; mean surgery length was 8 hours 12 minutes; and the mean ICU stay was nine days. The overall LOS averaged 13.25 days. One patient died postoperatively of sepsis and multisystem organ failure. One patient required reoperation for an abdominal wall hematoma caused by subcutaneous enoxaparin administration. Average follow-up was 28 months. Five patients are alive with no evidence of disease. Conclusions : Budd-Chiari syndrome is a rare entity in urology, with a potential for significant morbidity and mortality. Surgical excision of the primary tumor along with thrombectomy results in alleviation of BCS and improvement in the patient.

  2. Expert consensus on the classification of subtype in Budd-Chiari syndrome

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    Expert committee on Vane Cava Obstruction,Specialized CommitteeofEndovascology,ChineseMedicalDoctorAssociation

    2017-07-01

    Full Text Available From 2012 to 2015 the Department of Interventional Radiology of the Affiliated Hospital of Xuzhou Medical University undertook the clinical special research subject ”Study on the standardization of interventional diagnosis and treatment of Budd- Chiari syndrome”(No. BL2012021), a program supported by the Department of Science and Technology of Jiangsu Province. Based on the clinical results of three years research and the scientific summary of the experience from more than 2150 cases accumulated in more than 20 years, the Department of Interventional Radiology of the Affiliated Hospital of Xuzhou Medical University presided over a demonstration meeting about “the standardization of interventional diagnosis and treatment of Budd- Chiari syndrome” on January 14, 2016 in Xuzhou City of Jiangsu Province, China. The scholars from the Expert Committee on Vena Cava Obstruction of Specialized Committee of Endovascology, Chinese Medical Doctor Association, as well as the experts from the related medical fields, including interventional radiology, vascular surgery, pathology and diagnostic imaging, who have been engaged in the study of Budd- Chiari syndrome, attended the meeting, and in the meeting the participants made a full and thorough discussion on the classification and subtypes of Budd - Chiari syndrome. The scholars and experts have unanimously reached a consensus on the subtype definition of Budd- Chiari syndrome: the Budd Chiari syndrome is suggested to be classified into the hepatic vein occlusion subtype, the inferior vena cava occlusion subtype and mixed occlusion subtype, including 10 subtype entities in total. The hepatic vein occlusion subtype includes membranous occlusion of hepatic vein/accessory hepatic vein, segmental occlusion of hepatic vein, extensive occlusion of hepatic vein, and hepatic vein occlusion associated with thrombus formation. The inferior vena cava occlusion subtype

  3. Salvage living donor liver transplantation after percutaneous transluminal angioplasty for recurrent Budd-Chiari syndrome: a case report

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    Mitoro Akira

    2011-03-01

    Full Text Available Abstract Introduction Budd-Chiari syndrome is a very rare pathological entity that ultimately leads to liver failure. Several therapeutic modalities, including percutaneous transluminal angioplasty, have been attempted to save the life of patients with Budd-Chiari syndrome. Few reports have described a salvage living donor liver transplantation performed after percutaneous transluminal angioplasty in a patient with acute Budd-Chiari syndrome. Case presentation A 26-year-old Japanese man developed severe progressive manifestations, such as massive ascites and hematemesis due to rupture of esophageal varices. After making several investigations, we diagnosed the case as Budd-Chiari syndrome. We first performed percutaneous transluminal angioplasty to dilate a short-segment stenosis of his inferior vena cava. The first percutaneous transluminal angioplasty greatly improved the clinical manifestations. However, after a year, re-stenosis was detected, and a second percutaneous transluminal angioplasty failed to open the severe stricture of his inferior vena cava. Since our patient had manifestations of acute liver failure, we decided to perform salvage living donor liver transplantation from his brother. The transplantation was successfully performed and all clinical manifestations were remarkably alleviated. Conclusion In cases of recurrent Budd-Chiari syndrome, the blocked hepatic venous outflow is not always relieved, even with invasive therapies. We have to take into account the possibility of adopting alternative salvage therapies if the first therapeutic modalities fail. When invasive therapy such as percutaneous transluminal angioplasty fails, liver transplantation should be considered as an alternative option.

  4. Acute partial Budd-Chiari syndrome and portal vein thrombosis in cytomegalovirus primary infection: a case report

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    Morard Isabelle

    2006-03-01

    Full Text Available Abstract Background Splanchnic vein thrombosis may complicate inherited thrombotic disorders. Acute cytomegalovirus infection is a rare cause of acquired venous thrombosis in the portal or mesenteric territory, but has never been described extending into a main hepatic vein. Case presentation A 36-year-old immunocompetent woman presented with acute primary cytomegalovirus infection in association with extensive thrombosis in the portal and splenic vein. In addition, a fresh thrombus was evident in the right hepatic vein. A thorough evaluation for a hypercoagulable state was negative. The clinical course, biological evolution, radiological and histological findings were consistent with cytomegalovirus hepatitis complicated by a partial acute Budd-Chiari syndrome and portal thrombosis. Therapeutic anticoagulation was associated with a slow clinical improvement and partial vascular recanalization. Conclusion We described in details a new association between cytomegalovirus infection and acute venous thrombosis both in the portal vein and in the right hepatic vein, realizing a partial Budd-Chiari syndrome. One should be aware that this rare thrombotic event may be complicated by partial venous outflow block.

  5. [Budd-Chiari syndrome in childhood by hipoplasia of suprahepatic veins. Clinical and pathological study of a case (author's transl)].

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    Abarca, L; Junco, E; Hawkins, F G; Roche, M C; Sainz e I Alvarez, T

    1976-01-01

    A case of Budd-Chiari syndrome with hypoplasia of suprahepatic veins is reported. A bibliographic review is made. Etiologic and anatomic factors are analyzed. Its clinical, analytic, pathological and embryologic findings are compared with those of other authors. The rarity of this case, for the age of presentation as much as for its etiology is pointed out.

  6. Budd-Chiari Syndrome with Multiple Thrombi due to a Familial Arg42Ser Mutation in the Protein C Gene

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    Jun Muratsu

    2013-01-01

    Full Text Available A 34-year-old Japanese woman was admitted to our hospital complaining of developing bilateral pedal edema. Imaging studies led to a diagnosis of Budd-Chiari syndrome combined with internal jugular vein thrombus. We investigated the cause of thrombosis and found that the anticoagulant activity of protein C was decreased. Genetic analysis showed the presence of a c.125C>A (Arg42Ser substitution in the protein C gene (PROC of the proband, which generates an Arg42Ser mutation that replaces the scissile bond Arg42-Ala43 normally cleaved by a furin-like processing protease. Her father and younger brother also carried this mutation, although they had no evidence of thrombosis.

  7. Surgical treatment of Budd-Chiari syndrome: analysis of 221 cases.

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    Dang, Xiao-Wei; Xu, Pei-Qin; Ma, Xiu-Xian; Xu, Da-Qian; Zhu, Yan-Ju; Zhang, Yong-Shuai

    2011-08-01

    Budd-Chiari syndrome (B-CS) refers to post-hepatic portal hypertension and/or inferior vena cava hypertension caused by obstruction of blood flow at the portal cardinal hepatic vein. The treatments of B-CS include operations on pathological membrane lesions, shunting and combined operations. Studies have shown that China, Japan, India and South Africa have a high incidence of B-CS. In China, the Yellow River Basin in Henan, Shandong, Jiangsu and Anhui Provinces also have a high incidence, around 10 per 100 000. The clinical data of 221 B-CS patients were analyzed retrospectively. We focused on pathological types, surgical methods, effectiveness and complications of treatment, and follow-up. Based on imaging findings such as color ultrasonography, angiography or magnetic resonance angiography, the 221 patients were divided into 3 types (five subtypes): type Ia (72 patients), type Ib (20), type II (72), type IIIa (33), and type IIIb (24). Surgical procedures included balloon membranotomy with or without stent (65 patients), improved splenopneumopexy (18), radical resection of membrane and thrombus (17), inferior vena cava bypass [29, with cavocaval transflow (13) and cavoatrial transflow (16)], mesocaval shunt (41), splenocaval shunt (25), splenoatrial shunt (12), splenojugular shunt (6), and combined methods (8). The complication rate was 9.05% (20/221) and the perioperative death rate was 2.26% (5/221). All of the patients were followed up from 6 months to 5 years. The success rate was 84.6% (187/221), and the recurrence rate was 8.9% (9/101) and 13.5% (13/96) after 1- and 5-year follow-up, respectively. The rational choice of surgical treatment based on B-CS pathological typing may increase the success rate and decrease the recurrence.

  8. Intrahepatic Cholangiocarcinoma Presenting as the Budd-Chiari Syndrome: A Case Report and Literature Review

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    Joanna K Law

    2005-01-01

    Full Text Available Intrahepatic cholangiocarcinoma, an increasingly recognized primary tumour of the liver, is associated with a very poor prognosis. A patient with this tumour who presented with Budd-Chiari syndrome (the first to the authors' knowledge in Western literature and only the third patient overall secondary to extensive thrombosis in his inferior vena cava extending from the right atrium down to his iliac vessels is described. Neither curative nor palliative intervention was deemed to be an option in this patient, who deteriorated rapidly while on anti-coagulants. Postmortem examination confirmed the radiological findings, and histological analysis revealed characteristic appearances of this tumour within the biliary tree and invasion into the inferior vena cava. Furthermore, biliary dysplasia, which can be a precursor to this cancer, was also noted within some of the bile ducts.

  9. Budd-Chiari syndrome: a rare and life-threatening complication of Crohn’s disease

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    Simoes, Camila C; Ghouri, Yezaz A; Merwat, Shehzad N

    2018-01-01

    Budd-Chiari syndrome (BCS) is characterised by obstruction of hepatic venous outflow and may be triggered by the prothrombotic state associated with inflammatory bowel disease (IBD). We reported a case of Crohn’s disease (CD) that presented with anasarca, ascites, symptomatic hepatomegaly, elevated liver enzymes, increased prothrombin time and low albumin. Oesophagogastroduodenoscopy and colonoscopy confirmed active CD. Abdominal CT showed hepatic vein thrombosis. Liver biopsy revealed severe perivenular sinusoidal dilation with areas of hepatocyte dropout, bands of hepatocyte atrophy and centrizonal fibrosis, suggestive of BCS. The patient was treated with steroids for CD and systemic anticoagulants for BCS. His liver function and enzymes normalised, and he reported symptomatic improvement. The precise mechanism responsible for increased hypercoagulability in IBD remains unclear. Early recognition and treatment for possible thrombotic complications of CD is critical to prevent potentially fatal events like pulmonary embolism or liver failure. PMID:29348288

  10. Budd-Chiari syndrome in a 25-year-old woman with Behçet's disease: a case report and review of the literature

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    Évora Paulo RB

    2011-02-01

    Full Text Available Abstract Introduction The risk that patients with Behçet's disease will develop thrombotic complications has been previously described. Although it is distributed worldwide, Behçet's disease is rare in the Americas and Europe. Even though the pathogenic mechanisms of vascular complications of Budd-Chiari syndrome in patients with Behçet's disease are unknown, severe vascular complications of Budd-Chiari syndrome associated with Behçet's disease seem to affect mainly young men. Case presentation We report a case of Budd-Chiari syndrome, a severe vascular complication that developed in a 25-year-old Afro-Brazilian woman with Behçet's disease. Conclusion Severe vascular complications of Budd-Chiari syndrome in patients with Behçet's disease are much more common in young adult male patients; we present a rare case of Budd-Chiari syndrome in a young Afro-Brazilian woman with Behçet's disease.

  11. 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.

  12. Number and function of circulating endothelial progenitor cells in patients with primary Budd-Chiari syndrome.

    Science.gov (United States)

    Huang, Rui; Zhang, Qingqiao; Huang, Qianxin; Zu, Maoheng; Xu, Hao; Zeng, Lingyu

    2017-03-01

    Primary Budd-Chiari syndrome (BCS) is associated with vascular endothelial injury. Circulating endothelial progenitor cells (EPCs) provide an endogenous mechanism to repair endothelial injury. This study investigated the levels and functionality of EPCs in patients with primary BCS. EPCs (CD34+/CD133+/KDR+) were quantified in 82 patients with primary BCS (inferior vena cava type: n=19; hepatic vein type: n=22; and mixed type: n=41), 10 cirrhosis controls (CC group) and 10 age-matched healthy controls (HC group), using flow cytometry. EPCs proliferation was detected by MTT assay, adhesion by adhesion activity assay, and migration capacity by Transwell assay. EPCs levels were significantly lower in the BCS group (0.020±0.005%) than in the CC and HC groups (0.260±0.201%, 0.038±0.007%; PRMF), each PRMF, each P<0.001) than in the HC group. EPCs functionality did not significantly differ between the BCS and CC groups. The numbers and functions of EPCs did not significantly differ among patients with inferior vena cava type, hepatic vein type and mixed type of BCS. Patients with primary BCS had lower EPCs levels, with less proliferation, adhesion and migration activities. These findings suggest that lower levels of less functional EPCs may be associated with venous occlusion in primary BCS patients. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  13. Transjugular intrahepatic portosystemic shunt for severe jaundice in patients with acute Budd-Chiari syndrome.

    Science.gov (United States)

    He, Fu-Liang; Wang, Lei; Zhao, Hong-Wei; Fan, Zhen-Hua; Zhao, Meng-Fei; Dai, Shan; Yue, Zhen-Dong; Liu, Fu-Quan

    2015-02-28

    To evaluate the feasibility of transjugular intrahepatic portosystemic shunt (TIPS) for severe jaundice secondary to acute Budd-Chiari syndrome (BCS). From February 2009 to March 2013, 37 patients with severe jaundice secondary to acute BCS were treated. Sixteen patients without hepatic venule, hepatic veins (HV) obstruction underwent percutaneous angioplasty of the inferior vena cava (IVC) and/or HVs. Twenty-one patients with HV occlusion underwent TIPS. Serum bilirubin, liver function, demographic data and operative data of the two groups of patients were analyzed. Twenty-one patients underwent TIPS and the technical success rate was 100%, with no technical complications. Sixteen patients underwent recanalization of the IVC and/or HVs and the technical success rate was 100%. The mean procedure time for TIPS was 84.0±12.11 min and angioplasty was 44.11±5.12 min (Pmean portosystemic pressure in the TIPS group decreased significantly from 40.50±4.32 to 16.05±3.50 mmHg (Pmean portosystemic pressure gradient decreased significantly from 33.60±2.62 to 7.30±2.21 mmHg (Pmean follow-up of 12.6 mo, there was no recurrence of jaundice in either group. Severe jaundice is not a contraindication for TIPS in patients with acute BCS and TIPS is appropriate for severe jaundice due to BCS.

  14. Budd-Chiari syndrome and heparin-induced thrombocytopenia in polycythemia vera: Successful treatment with repeated TIPS and interferon alpha

    Directory of Open Access Journals (Sweden)

    Akoum Riad

    2009-01-01

    Full Text Available Polycythemia vera (PV is a common cause of Budd-Chiari syndrome (BCS and portal vein thrombosis (PVT. The postpartum period is a precipitating cofactor. An additional heparin-induced thrombocytopenia/thrombosis (HIT/T leads to a life-threatening condition in which transjugular intrahepatic portosystemic shunting (TIPS seems to be the only life-saving procedure. We describe the case of a subacute BCS and PVT in the late postpartum period. The diagnosis was established using CT scan, MRI, and Doppler ultrasonography of abdominal vessels and the laboratory findings were compatible with PV. After a successful creation of TIPS, a HIT/T worsened the hemorrhagic and thrombotic picture. TIPS procedure was successfully repeated and heparin was replaced with Fondaparinux and then vitamin K antagonist. The treatment with interferon alpha-2A, started after the normalization of liver functions, resulted in a complete remission within 6 months. The JAK2 V617F mutation clone remained undetectable after 2 years′ follow-up.

  15. Treatment of a patient with classical paroxysmal nocturnal hemoglobinuria and Budd-Chiari syndrome, with complement inhibitor eculizumab: Case Report

    Science.gov (United States)

    Mandala, E; Lafaras, C; Goulis, I; Tsioni, K; Georgopoulou, V; Ilonidis, G

    2013-01-01

    Background. Paroxysmal nocturnal haemoglobinuria (PNH) is a rare acquired clonal disorder of hematopoietic stem cells involving all blood cells. Erythrocytes have increased susceptibility to complement-mediated haemolysis. Thrombosis is the leading cause of mortality and follows episodes of acute hemolysis. Eculizumab, a monoclonal antibody blocking activation of complement C5 is currently used in the treatment of PNH. Recent results demonstrated that eculizumab effectively reduces thrombosis. Description of case. We present a 30-year-old male patient admitted with abdominal and lumbar pain. Thorough investigation revealed severe hemolytic anemia requiring transfusions and hepatosplenomegaly. Imaging findings were compatible with a Budd-Chiari syndrome. Flow cytometry confirmed the PNH diagnosis. Due to refractory ascites he underwent a transjugular intrahepatic portal-systemic shunt (TIPS) and eculizumab administration was started. Results. He has already completed three years of eculizumab treatment and he is transfusion independent. There is also a significant reduction in fatigue with improvement in his quality of life. Doppler scans of his TIPS persistently show it to be patent. Conclusions. Classical PNH patients with thrombosis and severe intravascular hemolysis are particularly challenging to manage. For these patients, eculizumab is a reasonable therapeutic option, expecting that by decreasing the risk for thrombosis, life expectancy may be increased. PMID:23935352

  16. Tratamento da síndrome de Budd-Chiari por meio da colocação de tips e de "stent" venoso supra-hepático Transjugular intrahepatic portosystemic shunt (TIPS and suprahepatic venous stenting in the management of Budd-Chiari syndrome

    Directory of Open Access Journals (Sweden)

    Jurandi A. Bettio

    2002-11-01

    . MATERIALS AND METHODS: Nine patients with Budd-Chiari syndrome were referred to the Hemodynamics Service of "Hospital São Lucas", Porto Alegre, RS, Brazil, for percutaneous procedure. Suprahepatic venous occlusion was detected in all cases using Doppler sonography. In the TIPS procedure, a snare loop was identified in the inferior vena cava just below the right atrium at the site of expected outflow of the occluded hepatic vein. After sonographic and fluoroscopic localization of the portal bifurcation, the needle was advanced into the portal vein and a stiff guide wire was introduced. Venography was performed and a stent was implanted. Follow-up color Doppler examinations were obtained in all cases at different intervals. RESULTS: Prominent hepatic venous stenosis was detected in three patients that were treated with suprahepatic stent implantation. Two of these patients required TIPS due to thrombosis of the stent. In the other six patients a TIPS creation was done. During follow-up, shunt dysfunction occurred in three of eight patients, requiring repeat intervention and insertion of another endoprostheses in two patients, mechanical thrombectomy and balloon dilatation in one and coil embolization of ectatic collaterals in another patient. CONCLUSION: TIPS is a safe and effective procedure for the treatment of portal hypertension caused by Budd-Chiari syndrome, allowing clinical and hemodynamic improvement and avoiding invasive approaches.

  17. Combined thrombus aspiration and recanalization in treating Budd-Chiari syndrome with inferior vena cava thrombosis.

    Science.gov (United States)

    Fu, Yu-Fei; Xu, Hao; Wu, Qian; Zhang, Qing-Qiao; Cui, Yan-Feng; Wei, Ning

    2015-12-01

    To investigate the feasibility, safety, and effectiveness of combined thrombus aspiration and inferior vena cava (IVC) recanalization for Budd-Chiari syndrome (BCS) patients with IVC thrombosis. From March 2011 to October 2014, 17 consecutive BCS patients with IVC thrombosis [male 13, female 4 (mean age 52.6 ± 8.4 years, range 43-72 years)] treated by combined thrombus aspiration and IVC recanalization were enrolled in this retrospective study. An 8F guiding catheter was used as the aspiration catheter. During the treatment, the aspiration catheter was placed from the right femoral vein to the IVC thrombi, and a 20-ml syringe was connected with the aspiration catheter for thrombus aspiration. IVC recanalization was performed after thrombus aspiration. Data on technical success, clinical success, and follow-up were analyzed. Technical success was achieved in all patients. After thrombus aspiration, 12 patients had no visible thrombi on IVC venography, while 5 patients were shown to have the IVC mural thrombi. Afterwards, 13 patients were treated by IVC balloon dilation, and 4 patients were treated by IVC stent insertion. No patient experienced dyspnea after treatment. The average IVC pressure decreased from 29.8 ± 3.4 cmH2O to 8.6 ± 2.1 cmH2O (P < 0.001). Clinical success was achieved in all patients. The average follow-up period was 15.3 ± 11.6 months (range 2-44 months). Long-term IVC patency was achieved in 15 of 17 patients. Combined thrombus aspiration and IVC recanalization can be a safe and effective method for BCS patients with IVC thrombosis.

  18. Spectral CT imaging in patients with Budd-Chiari syndrome: investigation of image quality.

    Science.gov (United States)

    Su, Lei; Dong, Junqiang; Sun, Qiang; Liu, Jie; Lv, Peijie; Hu, Lili; Yan, Liangliang; Gao, Jianbo

    2014-11-01

    To assess the image quality of monochromatic imaging from spectral CT in patients with Budd-Chiari syndrome (BCS), fifty patients with BCS underwent spectral CT to generate conventional 140 kVp polychromatic images (group A) and monochromatic images, with energy levels from 40 to 80, 40 + 70, and 50 + 70 keV fusion images (group B) during the portal venous phase (PVP) and the hepatic venous phase (HVP). Two-sample t tests compared vessel-to-liver contrast-to-noise ratio (CNR) and signal-to-noise ratio (SNR) for the portal vein (PV), hepatic vein (HV), inferior vena cava. Readers' subjective evaluations of the image quality were recorded. The highest SNR values in group B were distributed at 50 keV; the highest CNR values in group B were distributed at 40 keV. The higher CNR values and SNR values were obtained though PVP of PV (SNR 18.39 ± 6.13 vs. 10.56 ± 3.31, CNR 7.81 ± 3.40 vs. 3.58 ± 1.31) and HVP of HV (3.89 ± 2.08 vs. 1.27 ± 1.55) in the group B; the lower image noise for group B was at 70 keV and 50 + 70 keV (15.54 ± 8.39 vs. 18.40 ± 4.97, P = 0.0004 and 18.97 ± 7.61 vs. 18.40 ± 4.97, P = 0.0691); the results show that the 50 + 70 keV fusion image quality was better than that in group A. Monochromatic energy levels of 40-70, 40 + 70, and 50 + 70 keV fusion image can increase vascular contrast and that will be helpful for the diagnosis of BCS, we select the 50 + 70 keV fusion image to acquire the best BCS images.

  19. A Case of Acute Budd-Chiari Syndrome Complicating Primary Antiphospholipid Syndrome Presenting as Acute Abdomen and Responding to Tight Anticoagulant Therapy

    Directory of Open Access Journals (Sweden)

    Naofumi Chinen

    2016-01-01

    Full Text Available A 34-year-old woman with primary antiphospholipid syndrome was admitted to the Gastroenterology Department of our hospital with fever, acute abdomen, watery diarrhea, and extremely high levels of inflammatory parameters. She had a history of left lower limb deep vein thrombosis and pulmonary embolism and was taking warfarin potassium. Acute gastroenteritis was suspected and an antibiotic was administered, but symptoms progressed. Abdominal ultrasonography showed occlusion of the left hepatic vein and the middle hepatic vein and her D-dimer level was high. Accordingly, Budd-Chiari syndrome was diagnosed and high-dose intravenous infusion of heparin was initiated. Her abdominal symptoms improved and the levels of inflammatory parameters and D-dimer decreased rapidly. It is known that antiphospholipid syndrome can be complicated by Budd-Chiari syndrome that usually occurs as subacute or chronic onset, but acute onset is rare. It is difficult to diagnose acute Budd-Chiari syndrome complicating antiphospholipid syndrome and this complication generally has a poor outcome. However, the present case can get early diagnosis and successful treatment with tight anticoagulant therapy.

  20. Multiple macroregenerative nodules in liver cirrhosis due to Budd-Chiari syndrome. Case reports and review of the literature.

    Science.gov (United States)

    Zhou, H; Wolff, M; Pauleit, D; Fischer, H P; Pfeifer, U

    2000-01-01

    Clinical, radiological, histological and immunohistochemical methods were used to define the nature of multiple rapidly growing hepatic nodules in 2 young patients with Budd-Chiari syndrome due to myeloproliferative diseases. In one patient, the arterial hyperperfusion of large nodules was demonstrated by dynamic computed tomography and angiography. The explanted livers of these patients showed multiple well-demarcated nodules up to 3 cm in diameter on the background of liver cirrhosis resulting from chronic hepatic congestion. Histologically, these nodules covered a spectrum ranging from adenoma-like lesions to nodules resembling focal nodular hyperplasia. They consisted of essentially normal hepatocytes, and variably contained fibrous septa including neoductules and large, mostly dysmorphic arteries. Sometimes, they were located close to still patent or recanalized veins. These rapidly growing hepatic nodules are best defined as macroregenerative nodules. The knowledge of this entity may help the physician to avoid misinterpretation of such nodules as carcinomas.

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

    DEFF Research Database (Denmark)

    Holland-Fischer, Peter

    2004-01-01

    The case is presented of a 25-year-old Caucasian patient with Budd-Chiari syndrome due to membranous obstruction of the liver veins and inferior caval vein syndrome as a result of secondary hyperplasia of the caudate lobe of the liver, obstructing the caval vein. Diagnosis was established...... by intravascular pressure measurements, ultrasound examinations and caval and liver vein angiograms. Treatment consisting of stent placement in the outlet of a hepatic vein and subsequent transjugular intrahepatic porto-systemic shunt (TIPS) insertion via the caval vein was successful. After 34 months of follow......-up the stents remain open and the patient is symptom free. This successful combination of stent placement and TIPS has not been described before. The case report is followed by a review of the literature on the use of angioplasty in short hepatic vein stenosis and TIPS in Budd-Chiari syndrome. It is concluded...

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2003-02-01

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

  3. Scientific publications on portal vein thrombosis and Budd-Chiari syndrome: a global survey of the literature.

    Science.gov (United States)

    Qi, Xingshun; Jia, Jia; Ren, Weirong; Yang, Man; De Stefano, Valerio; Wang, Juan; Fan, Daiming

    2014-03-01

    Portal vein thrombosis (PVT) and Budd-Chiari syndrome (BCS) are two rare vascular disorders of the liver that can lead to life-threatening complications. We conducted a global survey to systematically analyze the scientific publications in the fields of PVT and BCS. All papers regarding PVT and BCS were identified via the PubMed, EMBASE, and Cochrane library databases. The publication year, country, type of paper, study design, and number of citations were summarized. Good quality papers were defined as those in which a high proportion of homogeneous patients with BCS and/or PVT was observed. We identified 6691 and 4325 papers regarding PVT and BCS, respectively. The number of papers gradually increased over time. Researchers from the USA published the greatest number of papers (PVT: n=1418; BCS: n=888). Clinical studies were the most common type of paper (PVT: n=5395; BCS n=3171), but fewer than half of these observed more than 10 patients (PVT: n=2667/5395; BCS: n=1092/3171). Furthermore, fewer than half of the clinical studies with more than 10 patients were of good quality (PVT: 976/2667; BCS: 466/1092). According to the study design, the good quality papers were classified as cohort studies (PVT: n=865; BCS: n=421), case-control studies (PVT: n=98; BCS: n=45), and randomized controlled trials (PVT: n=13; BCS: n=0). The 5 most frequently cited original articles and guidelines/consensuses were also listed. Despite an increase in the number of papers regarding PVT and BCS over time, most of the papers had a small sample size, suggesting the necessity of large cohort studies or randomized controlled trials.

  4. Regenerative nodules in patients with chronic Budd-Chiari syndrome: A longitudinal study using multiphase contrast-enhanced multidetector CT

    Energy Technology Data Exchange (ETDEWEB)

    Flor, Nicola [Unita Operativa di Radiologia Diagnostica Interventistica, University of Milan School of Medicine, Ospedale San Paolo, Milan (Italy)], E-mail: flornic@hotmail.com; Zuin, Massimo [Unita Operativa di Epatologia e Gastroenterologia Medica, University of Milan School of Medicine, Ospedale San Paolo, Via A. di Rudini 8, 20142 Milan (Italy); Brovelli, Francesca [Department of Radiology, Centro Diagnostico Italiano, Milan (Italy); Maggioni, Marco [Servizio di Anatomia Patologica, Ospedale San Paolo, Milan (Italy); Tentori, Augusta [Servizio di Radiologia, Ospedale di Voghera (Italy); Sardanelli, Francesco [Radiology, IRCCS Policlinico San Donato, University of Milan School of Medicine, Milan (Italy); Cornalba, Gian Paolo [Unita Operativa di Radiologia Diagnostica Interventistica, University of Milan School of Medicine, Ospedale San Paolo, Milan (Italy)

    2010-03-15

    Objective: Our aim was to evaluate the serial evolution of regenerative nodules in patients with Budd-Chiari syndrome (BCS) treated with portal-systemic shunts, using multiphasic multidetector computed tomography (MDCT). Materials and methods: Five patients each underwent three MDCT exams over an extended period ranging from 36 to 42 months. Two radiologists in consensus retrospectively reviewed each exam for each patient. Individual nodules were grouped according to size (size I: nodules with diameter {<=}15 mm; size II: >15 mm but <30 mm; size III: {>=}30 mm), pattern of enhancement (A: homogeneously hypervascular or B: with central scar), and segmental location. Four nodules classified as size II, which increased in size over time, were needle-biopsied. Results: We detected 61 nodules at the first exam, 66 nodules at the second exam (7 nodules disappeared and 12 new nodules), and 85 nodules at the third exam (8 disappeared and 27 new) for a total of 212 findings. Nodules were mostly found in the right hepatic lobe. Fourteen of the 15 nodules that disappeared over time were size I and enhancement pattern A. At unenhanced MDCT, 204 (96%) of the 212 findings were isodense. Overall, 100 nodules, including the 61 initially detected, were considered newly diagnosed; of these 84 (84%) were size I and pattern A. Of 57 nodules considered size I and pattern A at the first or second exam, 24 (42%) changed to pattern B at the third exam and either size II (n = 18) or III (n = 6). The four biopsied nodules were each confirmed as benign regenerative nodule. No patient developed HCC at 5-year follow-up period. Conclusion: Hepatic nodules in BCS patients not only increase in number over time but may also increase in size and develop a central scar.

  5. Risk of Budd-Chiari syndrome associated with factor V Leiden and G20210A prothrombin mutation: a meta-analysis.

    Directory of Open Access Journals (Sweden)

    Peijin Zhang

    Full Text Available BACKGROUND: Various studies have demonstrated that factor V Leiden (FVL and G20210A prothrombin mutation contribute to the risk of Budd-Chiari syndrome (BCS, while other studies provided conflicting findings. In order to derive more precise estimations of the relationships, a meta-analysis was performed. METHODS: Eligible articles were identified through search of databases including Pubmed, Chinese Biomedical Database (CBM, Chinese, and Chinese National Knowledge Infrastructure (CNKI, Chinese. Odd ratios (ORs with 95% confidence intervals (CIs were calculated using random- or fixed- model. RESULTS: Finally, twelve studies were included for FVL and nine studies were included for G20210A prothrombin mutation. With respect to FVL, significantly increased BCS risk was found in the overall population (OR = 6.29, 95%CI = 4.23-9.36. Subgroup analyses suggested that FVL was associated with an increased risk of BCS in the population with high background mutation prevalence (>1% in the normal population. No significant association was found between BCS and G20210A prothrombin mutation (OR = 1.78, 95%CI = 0.77-4.11. CONCLUSION: The presence of FVL should be evaluated in patients with BCS. Conversely, G20210A prothrombin mutation is not significantly associated with risk of BCS. Large-scale well designed studies are necessary to be conducted to further confirm or refute the observed association.

  6. Comparison of imaging characteristics between hepatic benign regenerative nodules and hepatocellular carcinomas associated with Budd-Chiari syndrome by contrast enhanced ultrasound

    Energy Technology Data Exchange (ETDEWEB)

    Zhang, Ruifang, E-mail: zhangruifang999@hotmail.com [Department of Ultrasound, The First Affiliated Hospital of Zhengzhou University, 1 Eastern Jianshe Road, Zhengzhou, Henan Province 450052 (China); Qin, Shicheng, E-mail: qsc@zzu.edu.cn [Department of Ultrasound, The First Affiliated Hospital of Zhengzhou University, 1 Eastern Jianshe Road, Zhengzhou, Henan Province 450052 (China); Zhou, Yuanyuan, E-mail: yuanyuanzhou288@126.com [Department of Ultrasound, The First Affiliated Hospital of Zhengzhou University, 1 Eastern Jianshe Road, Zhengzhou, Henan Province 450052 (China); Song, Yi, E-mail: twinkle_song@126.com [Department of Ultrasound, The First Affiliated Hospital of Zhengzhou University, 1 Eastern Jianshe Road, Zhengzhou, Henan Province 450052 (China); Sun, Lulu, E-mail: sunluyytr@163.com [Department of Ultrasound, The First Affiliated Hospital of Zhengzhou University, 1 Eastern Jianshe Road, Zhengzhou, Henan Province 450052 (China)

    2012-11-15

    Purpose: To compare different imaging characteristics between hepatic benign regenerative nodules and hepatocellular carcinomas (HCCs) associated with Budd-Chiari syndrome (BCS) by contrast enhanced ultrasound (CEUS). Materials and methods: A total of 32 chronic BCS patients (mean age, 42 years; age range, 18-59 years) with hepatic nodules who underwent CEUS were retrospectively studied. All patients had no the history of viral hepatitis. There were 23 patients with benign regenerative nodules (22 {+-} 9 mm; range, 8-42 mm) and 9 patients with HCCs (63 {+-} 21 mm; range, 26-90 mm). Lesion characteristics, including number, size, vascularization on color Doppler flow imaging, echogenicity, peripheral hypoechoic rim, and enhancement patterns in arterial, portal, and late phases on CEUS, were analyzed. Results: There were significant differences in number and size of the lesions between two groups. No significant differences were observed in vascularity, echogenicity, and peripheral hypoechoic rim. Overall, there were significant differences in enhancement patterns in arterial, portal, and late phases between them on CEUS. Of 23 patients with benign regenerative nodules, 16 (70%) were center-to-periphery hyperenhanced and 7 patients (30%) were homogeneously hyperenhanced in arterial phase; the majority were homogeneously hyperenhanced in portal and late phases. Of 9 patients with HCCs, 8 (89%) were heterogeneously hyperenhanced in arterial phase and most of them were hypoenhanced in portal and late phases. Conclusion: CEUS imaging characteristics of benign regenerative nodules radically differ from that of HCCs in BCS patients.

  7. Hepatic vein obstruction (Budd-Chiari)

    Science.gov (United States)

    ... MedlinePlus Site Map FAQs Customer Support Health Topics Drugs & Supplements Videos & Tools Español You Are Here: Home → Medical Encyclopedia → Hepatic vein obstruction (Budd-Chiari) URL of this page: // ...

  8. Outcome of a retrieval stent filter and 30 mm balloon dilator for patients with Budd-Chiari syndrome and chronic inferior vena cava thrombosis: a prospective pilot study

    Energy Technology Data Exchange (ETDEWEB)

    Ding, P.-X. [Department of Radiology, the First Affiliated Hospital, Zhengzhou University Zhengzhou, Henan Province 450052 (China); Han, X.-W., E-mail: hanxinwei@tom.co [Department of Radiology, the First Affiliated Hospital, Zhengzhou University Zhengzhou, Henan Province 450052 (China); Wu, G.; Li, Y.-D.; Shui, S.-F.; Wang, Y.-L. [Department of Radiology, the First Affiliated Hospital, Zhengzhou University Zhengzhou, Henan Province 450052 (China)

    2010-08-15

    Aim: To evaluate the mid-term safety and efficacy of a retrieval stent filter and 30 mm balloon dilator in the treatment of Budd-Chiari syndrome (BCS) patients with chronic inferior vena cava (IVC) thrombosis. Materials and methods: Twenty-three consecutive patients with BCS and chronic IVC thrombosis were treated with a retrieval stent filter and a 30 mm balloon dilator, and subsequently underwent color Doppler ultrasound follow-up at our hospital. Data relating to the technical success, angiographic and ultrasound results, mortality, morbidity, and final clinical outcome were collected retrospectively and follow-ups were performed 1, 3, 6, and 12 months after placement of the stent, and annually thereafter. Results: Stent filter placement and balloon dilation were technically successful in all patients, with no procedure-related complications. Removal of the stent filter was technically successful in 22 of 23 attempts, yielding a technical successful rate of 95.7% (95% confidence intervals (CI): 87%, 105%). Inferior vena cavagrams performed immediately before stent removal demonstrated that the IVC thrombus had completely resolved in all patients without pulmonary embolism. The mean primary patency rate 3, 6, 12, and 24 months after venoplasty was 0.91 (95% CI: 0.79-1.04), 0.87 (95% CI: 0.72-1.02), 0.87 (95% CI: 0.72-1.02), and 0.87 (95% CI: 0.72-1.02), respectively. The secondary patency rates were 1.00 throughout the follow-up period. All patients are alive with resolution of the symptoms at the time of this report. Conclusions: The preliminary results indicate that the retrieval stent filter and 30 mm balloon dilator are a safe and effective treatment for BCS patients with chronic IVC thrombosis.

  9. Thrombophilic Genetic Factors PAI-1, MTHFRC677T, V Leiden 506Q, and Prothrombin 20210A in Noncirrhotic Portal Vein Thrombosis and Budd-Chiari Syndrome in a Caucasian Population

    Directory of Open Access Journals (Sweden)

    Mario D’Amico

    2013-01-01

    Full Text Available Thrombophilic genetic factors PAI-1, MTHFRC677T, V Leiden 506Q, and Prothrombin 20210A were studied as risk factors in 235 Caucasian subjects: 85 patients with abdominal thrombosis (54 with portal vein thrombosis (PVT and 31 with Budd-Chiari syndrome (BCS without liver cirrhosis or hepatocellular carcinoma and 150 blood bank donors. Seventy-five patients with PVT/BCS showed associated disease or particular clinical status (46 PVT/29 BCS: 37 myeloproliferative neoplasm (20 PVT/17 BCS, 12 abdominal surgery (10 PVT/2 BCS, 10 contraception or pregnancy (6 PVT/4 BCS, 7 abdominal acute disease (6 PVT/1 BCS, and 9 chronic disease (4 PVT/5 BCS; ten patients did not present any association (8 PVT/2 BCS. PAI-14G-4G, MTHFR677TT, and V Leiden 506Q were significantly frequent (OR 95% CI and χ2 test with P value in abdominal thrombosis; in these patients PAI-14G-4G and MTHFR677TT distributions deviated from that expected from a population in the Hardy-Weinberg equilibrium (PAI-1: χ2=13.8, P<0.001; MTHFR677: χ2=7.1, P<0.01, whereas the equilibrium was respected in healthy controls. V Leiden Q506 and Prothrombin 20210A were in the Hardy-Weinberg equilibrium both in patients with abdominal thrombosis and healthy controls. Our study shows an important role of PAI-14G-4G and MTHFR677TT in abdominal thrombosis without liver cirrhosis or hepatocellular carcinoma.

  10. The effects of L-carnitin in Budd-Chiari syndrome in a domestic cat

    Directory of Open Access Journals (Sweden)

    Aliye Sağkan Öztürk

    2016-03-01

    Full Text Available This paper describes a thrombosis in the vena cava caudalis of a 15 year-old cat with ascites. Trauma and eventually feline enteric corona virus infection in the cat were not detected. In the intrahepatic region, a blockage of vena cava caudalis was brought to light by ultrasonographic imaging. An aspirate of abdominal fl uid revealed modified transudate. Liver enzyme levels were increased in the serum sample of the cat. The levels of total oxidant status (TOS and total antioxidant status (TAS were elevated in the peritoneal fluid. Liver protection diet with L-carnitine, diuretic therapy and antimicrobial drugs were administrated for treatment of the cat. During the continuous treatment, the amount of abdominal fluid decreased, but never completely absorbed. L-carnitine was administered to the cat during the time of treatment, and subsequently the levels of liver enzymes decreased. However, the cat died because of recurrent ascites and persistent thrombosis. In conclusion, ultrasonographic examination was very reliable, non-invasive and highly useful diagnostic method for BCS and L-carnitine has crucial effects on the quality of life, energy metabolism and liver enzyme levels. However, the blockage of the vena cava caudalis could not completely respond to medical treatment and thrombosis should be eliminated by surgical intervention.

  11. Combination of thrombolytic therapy and angioplastic stent insertion in a patient with Budd-Chiari syndrome

    OpenAIRE

    Reza, Fatemi; Naser, Daryani E; Hossein, Ganaati; Mehrdad, Zahmatkesh

    2007-01-01

    A 31-year-old female who had well-established polycythemia vera one year before, presented with the sudden onset. She had severe ascites and hepatic encephalopathy 12 d prior to admission. Real-time ultrasonography revealed a supra hepatic thrombosis extending toward the inferior vena cava (lVC). Thrombolytic therapy with systemic streptokinase (250 000 IU loading + 100 000 IU/h infusion) was started. At the end of 72 h infusion, the patient's general condition improved. A color Doppler ultra...

  12. Combination of thrombolytic therapy and angioplastic stent insertion in a patient with Budd-Chiari syndrome.

    Science.gov (United States)

    Reza, Fatemi; Naser, Daryani E; Hossein, Ganaati; Mehrdad, Zahmatkesh

    2007-07-21

    A 31-year-old female who had well-established polycythemia vera one year before, presented with the sudden onset. She had severe ascites and hepatic encephalopathy 12 d prior to admission. Real-time ultrasonography revealed a supra hepatic thrombosis extending toward the inferior vena cava (lVC). Thrombolytic therapy with systemic streptokinase (250000 IU loading + 100000 IU/h infusion) was started. At the end of 72 h infusion, the patient's general condition improved. A color Doppler ultrasonography then showed complete and partial resolution of the thrombosis in the supra hepatic vein and IVC, respectively. Despite this good response, 12 d later, the symptoms recurred. Venography detected complete obstruction of the lVC. Percutaneous balloon angioplasty with stent insertion was performed successfully and the patient was discharged without any evidence of liver disease. A combination of systemic streptokinase and radiological intervention was effective in our patient.

  13. The JAK2 46/1 haplotype in Budd-Chiari syndrome and portal vein thrombosis

    NARCIS (Netherlands)

    J.H. Smalberg (Jasper); S. Darwish Murad (Sarwa); E.M. Koehler (Edith); A. Plessier (Aurelie); S. Seijo (Susana); J. Trebicka (Jonel); M. Primignani (Massimo); M.P.M. de Maat (Moniek); J.C. García-Pagán (Juan Carlos); D.C. Valla (Dominique Charle); H.L.A. Janssen (Harry); F.W.G. Leebeek (Frank)

    2011-01-01

    textabstractThe germline JAK2 46/1 haplotype has been associated with the development of JAK2V617F-positive as well as JAK2V617F-negative myeloproliferative neoplasms (MPNs). In this study we examined the role of the 46/1 haplotype in the etiology and clinical presentation of patients with

  14. Budd-chiari syndrome and renal arterial neurysms due to behcet ...

    African Journals Online (AJOL)

    Behcet's disease is a multisystemic vasculitis of unknown etiology with a chronic relapsing course. Vasculitis in Behcet's disease with predominant vascular involvement is the only vasculitis that affects both arteries and veins of any size. Involvement of the renal artery and inferior vena cava is rare among the arteries and ...

  15. Combination of Thrombolytic Therapy and Angioplastic Stent Insertion in a Patient with Budd-Chiari Syndrome: Report of a Case

    OpenAIRE

    Fatemi, R.; H. Ghanaati; A Alipoor; Taslimi, R; J. Hamrang; A. A. Hashtroudi; N. E. Daryani

    2003-01-01

    A 31-year-old female with well-established polycythemia vera since one year before, presented with the sudden onset of tense ascites and hepatic encephalopathy since 12 days prior to admission. Real-time ultrasonography revealed a suprahepatic thrombosis extending toward the inferior vena cava (IVC). Thrombolytic therapy with systemic streptokinase (250,000 IU loading + 100,000 IU/hr infusion) was started. At the end of 72 hours’ infusion, the patient’s general condition improved. A color Dop...

  16. Hepatic venous outflow block in a young patient with Systemic Lupus Erythematosus

    Directory of Open Access Journals (Sweden)

    Ali Ghavidel

    2015-08-01

    Full Text Available Introduction: Hepatic venous outflow block or Budd-Chiari syndrome is a severe liver disease with a 3 years survival rate of 50%. Several conditions have been implicated as a cause of Budd-Chiari syndrome, including myeloproliferative disorders, paroxysmal nocturnal hemoglobinuria, the presence of lupus anti-coagulant, oral contraceptives, pregnancy, and others. In a small number of cases, Budd-Chiari syndrome is associated with the presence of lupus anticoagulant. Anticardiolipin antibodies (ACA are similar to lupus anti-coagulant antiphospholipid antibodies (APLAs, which have been described in patients with recurrent arterial and venous thrombosis, thrombocytopenia, fetal loss, or miscarriage. Case Report: A 23-year-old woman is reported with Budd-Chiari syndrome in whom lupus anticoagulant and anticardiolipin antibodies were shown; 9 months after diagnosis of systemic lupus erythematosus (SLE treatment with steroids admitted with gastrointestinal problems, abdominal pain and ascites and treated oral anticoagulants induced a considerable improvement. This treatment was continued after 1 year, but interruption was followed by redevelopment of ascites. Further treatment with anticoagulants was continued for 5 years with noticeable improvement. Conclusion: Patients with Budd-Chiari syndrome should be tested for lupus anticoagulants and anticardiolipin antibodies, Budd-Chiari syndrome resulting from this cause may have a good response to treatment with oral anticoagulants; this treatment should be maintained permanently, and pregnancy in such patients may initiate serious difficulties. The condition of the patient at follow-up was good.

  17. Bilateral lower limb edema caused by compression of the retrohepatic inferior vena cava by a giant hepatic hemangioma.

    Science.gov (United States)

    Akbulut, Sami; Yilmaz, Mehmet; Kahraman, Aysegul; Yilmaz, Sezai

    2013-01-01

    Hemangiomas are the most common benign primary tumors of the liver and their prevalence ranges from 0.4% to 20%. Approximately 85% of hemangiomas are clinically asymptomatic and are incidentally detected in imaging studies performed for other causes. In a very small minority of patients, nausea, vomiting, abdominal pain, distension, palpable mass, obstructive jaundice, bleeding, and signs and symptoms of Budd-Chiari syndrome may develop due to compression of bile duct, hepatic vein, portal vein, and adjacent organs. Occasionally, external compression of inferior vena cava may lead to edema and/or indirect symptoms such as deep vein thrombosis of the lower limbs. In this report, we present a case of giant hepatic hemangioma that completely filled the right lobe of the liver. The patient presented with bilateral lower limb edema and pain. A computed tomography scan detected a 9 × 11 × 12 cm mass indicative of a hemangioma in the right lobe of the liver that compressed the inferior vena cava. The patient refused treatment initially but returned 6 months later presenting with the same symptoms. At that time, the mass had increased in size and a hepatectomy was performed, preserving the middle hepatic vein. By postoperative month 13, the swelling in the lower extremities had decreased significantly and the inferior vena cava appeared normal.

  18. What Causes Cushing's Syndrome?

    Science.gov (United States)

    ... Share Facebook Twitter Pinterest Email Print What causes Cushing syndrome? Cushing syndrome can develop for two reasons: ... uhs ), thyroid, or thymus How Tumors Can Cause Cushing Syndrome Normally, the pituitary gland in the brain ...

  19. What Causes Rett Syndrome?

    Science.gov (United States)

    ... Share Facebook Twitter Pinterest Email Print What causes Rett syndrome? Most cases of Rett syndrome are caused by ... as bad for development as too little. Is Rett syndrome passed from one generation to the next? In ...

  20. What Causes Cushing's Syndrome?

    Science.gov (United States)

    ... NICHD Research Information Find a Study More Information Bullying About NICHD Research Information Find a Study More ... too much cortisol 1 , 2 Medication Medication is responsible for most cases of Cushing syndrome. It is ...

  1. Hepatopulmonary syndrome causing severe hypoxaemia

    DEFF Research Database (Denmark)

    Lyngsøe, Bente Kjær; Andersen, Mette Winther; Eriksen, Jan

    2014-01-01

    Dyspnoea is a common complaint in patients with chronic liver disease. Hepatopulmonary syndrome (HPS) is an important cause to be aware of in the setting of liver disease, dyspnoea and hypoxaemia. HPS causes microvascular dilatation, angiogenesis and arteriovenous bypassing. The patients suffer...

  2. Pattern of chronic liver disease in Omani children -

    African Journals Online (AJOL)

    Congenital hepatic fibrosis. Glycogen storage disorder. Galactosaemia. Cystic Fibrosis. Chronic hepatitis (HBV x 2). Fatty Liver. Progressive familial Intrahepatic cholestasis. Budd Chiari Syndrome. Chronic granulomatous disease. Non diagnostic other one hepatitis B surface antigen and the e antigen were positive.

  3. Unusual causes of Cushing's syndrome.

    Science.gov (United States)

    Vassiliadi, Dimitra; Tsagarakis, Stylianos

    2007-11-01

    Although in the majority of the patients with Cushing's syndrome (CS), hypercortisolism is due to ACTH hypersecretion by a pituitary tumour or to ectopic ACTH secretion from an extrapituitary neoplastic lesion or to autonomous cortisol secretion by an adrenal tumour, in occasional patients a much rarer entity may be the cause of the syndrome. Herein, we attempted to summarise and categorise these unusual causes according to their presumed aetiology. To this end, we performed a comprehensive computer-based search for unusual or rare causes of CS. The following unusual forms of CS were identified: (i) ACTH hyperesecretion due to ectopic corticotroph adenomas in the parasellar region or the neurohypophysis, or as part of double adenomas, or gangliocytomas; (ii) ACTH hypersecretion due to ectopic CRH or CRH-like peptide secretion by various neoplasms; (iii) ACTH-independent cortisol hypersecretion from ectopic or bilateral adrenal adenomas; (iv) glucocorticoid hypersensitivity; (v) iatrogenic, due to megestrol administration or to ritonavir and fluticasone co-administration. Such unusual presentations of CS illustrate why Cushing's syndrome represents one of the most puzzling endocrine syndromes.

  4. What Causes Prader-Willi Syndrome?

    Science.gov (United States)

    ... Find a Study Resources and Publications What causes Prader-Willi syndrome (PWS)? Skip sharing on social media links Share this: Page Content Prader-Willi syndrome is caused by genetic changes on an "unstable" ...

  5. [DRESS syndrome caused by phenylbutazone].

    Science.gov (United States)

    Valade, S; Toledano, C; Tiev, K; Gain, M; Josselin, L; Cabane, J; Kettaneh, A

    2009-08-01

    The drug rash with hypereosinophilia and systemic symptoms (DRESS) syndrome is a severe drug-induced hypersensitivity syndrome. We report a 57-year-old woman suffering from a DRESS syndrome 15 days after phenylbutazone exposure. She had a skin eruption, liver involvement and hypereosinophilia. She fully recovered after drug withdrawal.

  6. Restless Legs Syndrome -- Causes and Symptoms

    Science.gov (United States)

    ... Diagnosis Treatment Jet Lag Overview Symptoms & Self Test Treatment Narcolepsy Overview & Facts Symptoms Self-Tests & Diagnosis Treatment Restless Legs Syndrome Overview & Facts Causes & Symptoms Self- ...

  7. Triple X Syndrome: Symptoms and Causes

    Science.gov (United States)

    ... help determine the cause and suggest appropriate action. Causes Although triple X syndrome is genetic, it's usually not inherited — it's due to a random genetic error. Normally, people have 46 chromosomes in each cell, ...

  8. Acute compartment syndrome caused by uncontrolled hypothyroidism.

    Science.gov (United States)

    Modi, Anar; Amin, Hari; Salzman, Matthew; Morgan, Farah

    2017-06-01

    Acute compartment syndrome is increased tissue pressure exceeding perfusion pressure in a closed compartment resulting in nerve and muscle ischemia. Common precipitating causes are crush injuries, burns, substance abuse, osseous or vascular limb trauma. This is a case of 42year old female with history of hypothyroidism who presented to emergency room with acute onset of severe pain and swelling in right lower extremity. Physical examination was concerning for acute compartment syndrome of right leg which was confirmed by demonstration of elevated compartmental pressures. No precipitating causes were readily identified. Further laboratory testing revealed uncontrolled hypothyroidism. Management included emergent fasciotomy and initiating thyroid hormone replacement. This case represents a rare association between acute compartment syndrome and uncontrolled hypothyroidism. We also discuss the pathogenesis of compartment syndrome in hypothyroid patients and emphasize the importance of evaluating for less common causes, particularly in setting of non-traumatic compartment syndrome. Copyright © 2016 Elsevier Inc. All rights reserved.

  9. A rare cause of Cushing's syndrome

    DEFF Research Database (Denmark)

    Folkestad, Lars; Andersen, Marianne Skovsager; Nielsen, Anne Lerberg

    2014-01-01

    Excess glucocorticoid levels cause Cushing's syndrome (CS) and may be due to pituitary, adrenal or ectopic tumours. Adrenocorticotropic hormone (ACTH) levels are useful in identifying adrenal tumours. In rare cases, ACTH-producing phaeochromocytomas are the cause of CS. We present two cases of ACTH...

  10. Aberrant Radial Artery Causing Carpal Tunnel Syndrome

    Directory of Open Access Journals (Sweden)

    Zinon T. Kokkalis

    2016-07-01

    Full Text Available Anatomical vascular variations are rare causes of carpal tunnel syndrome. An aberrant medial artery is the most common vascular variation, while an aberrant radial artery causing carpal tunnel syndrome is even more rare, with an incidence ranging less than 3%. This article reports a patient with compression of the median nerve at the carpal tunnel by an aberrant superficial branch of the radial artery. An 80- year- old man presented with a 5-year history of right hand carpal tunnel syndrome; Tinel sign, Phalen test and neurophysiological studies were positive. Open carpal tunnel release showed an aberrant superficial branch of the radial artery with its accompanying veins running from radially to medially, almost parallel to the median nerve, ending at the superficial palmar arterial arch. The median nerve was decompressed without ligating the aberrant artery. At the last follow-up, 2 years after diagnosis and treatment the patient is asymptomatic.

  11. Aberrant Radial Artery Causing Carpal Tunnel Syndrome.

    Science.gov (United States)

    Kokkalis, Zinon T; Tolis, Konstantinos E; Megaloikonomos, Panayiotis D; Panagopoulos, Georgios N; Igoumenou, Vasilios G; Mavrogenis, Andreas F

    2016-06-01

    Anatomical vascular variations are rare causes of carpal tunnel syndrome. An aberrant medial artery is the most common vascular variation, while an aberrant radial artery causing carpal tunnel syndrome is even more rare, with an incidence ranging less than 3%. This article reports a patient with compression of the median nerve at the carpal tunnel by an aberrant superficial branch of the radial artery. An 80- year- old man presented with a 5-year history of right hand carpal tunnel syndrome; Tinel sign, Phalen test and neurophysiological studies were positive. Open carpal tunnel release showed an aberrant superficial branch of the radial artery with its accompanying veins running from radially to medially, almost parallel to the median nerve, ending at the superficial palmar arterial arch. The median nerve was decompressed without ligating the aberrant artery. At the last follow-up, 2 years after diagnosis and treatment the patient is asymptomatic.

  12. Superior mesenteric artery syndrome causing growth retardation

    Directory of Open Access Journals (Sweden)

    Halil İbrahim Taşcı

    2013-03-01

    Full Text Available Superior mesenteric artery syndrome is a rare and lifethreateningclinical condition caused by the compressionof the third portion of the duodenum between the aortaand the superior mesenteric artery’s proximal part. Thiscompression may lead to chronic intermittent, acute totalor partial obstruction. Sudden weight-loss and the relateddecrease in the fat tissue are considered to be the etiologicalreason of acute stenosis. Weight-loss accompaniedby nausea, vomiting, anorexia, epigastric pain, andbloating are the leading complaints. Barium radiographs,computerized tomography, conventional angiography,tomographic and magnetic resonance angiography areused in the diagnosis. There are medical and surgical approachesto treatment. We hereby present the case ofa patient with superior mesenteric artery syndrome withdelayed diagnosis.Key words: superior mesenteric artery syndrome, nausea-vomiting, anorexia

  13. Postoperative gastric dilatation causing abdominal compartment syndrome

    Directory of Open Access Journals (Sweden)

    Krausz Michael M

    2008-01-01

    Full Text Available Abstract Objective To study the effect of postoperative gastric dilatation on intra-abdominal pressure (IAP. Design and setting Single case report from a primary teaching hospital. Patients and methods A 72-year-old woman demonstrated a sudden respiratory and cardiovascular collapse following resection of a retroperitoneal sarcoma. This collapse was caused by abdominal compartment syndrome due to gastric dilatation. Results The patient was re-explored, an enormously distended stomach was found with the nasogastric tube situated in a small sliding hernia which prevented drainage of the distended stomach. Re-positioning of the nasogastric tube, allowed the decompression of the stomach and the patient's condition immediately improved. Conclusion Acute abdominal distention following major abdominal surgery may result from acute gastric dilatation, leading to oliguria and increased airway pressures. Untreated gastric dilatation can cause abdominal compartment syndrome.

  14. Postoperative gastric dilatation causing abdominal compartment syndrome.

    Science.gov (United States)

    Mahajna, Ahmad; Mitkal, Sharon; Krausz, Michael M

    2008-01-31

    To study the effect of postoperative gastric dilatation on intra-abdominal pressure (IAP). Single case report from a primary teaching hospital. A 72-year-old woman demonstrated a sudden respiratory and cardiovascular collapse following resection of a retroperitoneal sarcoma. This collapse was caused by abdominal compartment syndrome due to gastric dilatation. The patient was re-explored, an enormously distended stomach was found with the nasogastric tube situated in a small sliding hernia which prevented drainage of the distended stomach. Re-positioning of the nasogastric tube, allowed the decompression of the stomach and the patient's condition immediately improved. Acute abdominal distention following major abdominal surgery may result from acute gastric dilatation, leading to oliguria and increased airway pressures. Untreated gastric dilatation can cause abdominal compartment syndrome.

  15. A Solitary Plasmocytoma Case Causing Horner Syndrome

    Directory of Open Access Journals (Sweden)

    Mustafa Vayvada

    2014-08-01

    Full Text Available Solitary plasmacytoma is a rare plasma cell tumour, when seen in the chest wall, it is important to diagnose since the treatment scheme and prognosis will vary, compared to primary malignant tumours of the chest wall. A 60-year-old male presented to our clinic with left shoulder pain radiating to the left axilla. Horner%u2019s syndrome symptoms were present, in further examination a chest wall mass located in the left upper lung lobe region was detected. Histopathologic diagnosis was solitary plasmocytoma via video-assisted thoracoscopy. The primary tumor of the rib malignancy causing Horner%u2019s syndrome is discussed with reference to the relevant literature.

  16. [Principal causes for recurrent carpal tunnel syndrome].

    Science.gov (United States)

    Vázquez-Alonso, M F; Abdala-Dergal, C

    2016-01-01

    The frequent causes of relapsing carpal tunnel syndrome were analyzed. Nine patients were followed-up from January 1st to December 31st, 2011. They underwent a physical exam and imaging tests. Pain was measured in all of them with the VAS, and the Brigham and Womens Hospital questionnaire was used to assess disability. Patients included seven females and two males; mean age was 52 years. Major causes for relapse included postoperative fibrosis with incomplete release in seven patients and incomplete release in two patients in whom minimally invasive approaches were used. Three of the nine patients had retractile scars. The main cause of relapse was postoperative fibrosis associated with the minima-lly invasive approach.

  17. Subacromial lipoma causing shoulder impingement syndrome.

    Science.gov (United States)

    Sucuoglu, Hamza; Akgun, Kenan

    2017-01-01

    Subacromial lipoma represents a rare cause of subacromial impingement syndrome (SIS). A 49-year-old male patient presented to clinic with progressive right shoulder pain and limited movement, ongoing for approximately 1 month. Magnetic resonance imaging (MRI) revealed a lesion, compatible with lipoma, extending through subacromial space and pressing on supraspinatus muscle. After histopathological verification of lipoma, mass was excised. Postoperatively, patient completed 1 month physical therapy and rehabilitation program. Patient was free of pain at 4-month follow-up. Subacromial lipoma should be included in differential diagnosis of SIS for patients unresponsive to conservative treatment; MRI is very useful to determine precise etiology and inform surgical treatment.

  18. Piriformis syndrome: a cause of nondiscogenic sciatica.

    Science.gov (United States)

    Cass, Shane P

    2015-01-01

    Piriformis syndrome is a nondiscogenic cause of sciatica from compression of the sciatic nerve through or around the piriformis muscle. Patients typically have sciatica, buttocks pain, and worse pain with sitting. They usually have normal neurological examination results and negative straight leg raising test results. Flexion, adduction, and internal rotation of the hip, Freiberg sign, Pace sign, and direct palpation of the piriformis cause pain and may reproduce symptoms. Imaging and neurodiagnostic studies are typically normal and are used to rule out other etiologies for sciatica. Conservative treatment, including medication and physiotherapy, is usually helpful for the majority of patients. For recalcitrant cases, corticosteroid and botulinum toxin injections may be attempted. Ultrasound and other imaging modalities likely improve accuracy of injections. Piriformis tenotomy and decompression of the sciatic nerve can be done for those who do not respond.

  19. 酒精性肝病常见临床综合征

    Directory of Open Access Journals (Sweden)

    ZHANG Dai

    2014-02-01

    Full Text Available Alcoholic liver disease (ALD has become a major cause of end-stage liver disease after viral liver cirrhosis. However, the impairments due to excessive alcohol intake have not drawn much attention, especially some clinical syndromes that occur in the advanced stage of ALD, such as Madelung syndrome, pseudo Budd-Chiari syndrome, hepatic osteodystrophy, and alcohol withdrawal syndrome (AWS. There is no accurate recognition and timely treatment of these syndromes, thus leading to irreversible damage. The clinical manifestation, possible mechanism, and therapeutic principle of the four syndromes are reviewed, aiming to increase the clinicians′ awareness of these signals of excessive drinking and to prevent the development and progression of ALD. Early diagnosis of AWS, as well as timely, effective treatment, can not only reduce misdiagnosis and mistreatment, but also reduce the mortality of patients under intensive care.

  20. NIH Researchers Find Potential Genetic Cause of Cushing Syndrome

    Science.gov (United States)

    ... 2017 NIH researchers find potential genetic cause of Cushing syndrome Finding may lead to therapies that prevent ... mutations in the gene CABLES1 may lead to Cushing syndrome, a rare disorder in which the body ...

  1. Red man syndrome caused by vancomycin powder.

    Science.gov (United States)

    Nagahama, Yasunori; VanBeek, Marta J; Greenlee, Jeremy D W

    2018-02-01

    Red man syndrome (RMS) is a well-known hypersensitivity reaction caused by intravenous administration of vancomycin, with symptoms ranging from flushing, erythematous rash, pruritus, mild to profound hypotension, and even cardiac arrest. RMS has not previously been described from local application of vancomycin powder in a surgical wound, a technique increasingly utilized for infection prophylaxis in many surgical disciplines including neurosurgery. We describe the first reported case of RMS as a result of local intra-wound application of vancomycin powder for infection prophylaxis. A 73-year-old male with a history of Parkinson's disease underwent 2-stage deep brain stimulation implantation surgeries. Vancomycin powder was applied locally in the surgical wounds for infection prophylaxis during both of the surgeries. The patient developed a well-demarcated, geometric erythematous pruritic rash following the second surgery that was clinically diagnosed as RMS and resolved without sequelae. Copyright © 2018 Elsevier Ltd. All rights reserved.

  2. Hyperthyroidism caused by acquired immune deficiency syndrome.

    Science.gov (United States)

    Wang, J-J; Zhou, J-J; Yuan, X-L; Li, C-Y; Sheng, H; Su, B; Sheng, C-J; Qu, S; Li, H

    2014-01-01

    Acquired immune deficiency syndrome (AIDS) is an immune deficiency disease. The etiology of hyperthyroidism, which can also be immune-related, is usually divided into six classical categories, including hypophyseal, hypothalamic, thyroid, neoplastic, autoimmune and inflammatory hyperthyroidism. Hyperthyroidism is a rare complication of highly active antimicrobial therapy (HAART) for human immunodeficiency virus (HIV). Hyperthyroidism caused directly by AIDS has not been previously reported. A 29-year-old man who complained of dyspnea and asthenia for 1 month, recurrent fever for more than 20 days, and breathlessness for 1 week was admitted to our hospital. The thyroid function test showed that the level of free thyroxine (FT4) was higher than normal and that the level of thyroid-stimulating hormone (TSH) was below normal. He was diagnosed with hyperthyroidism. Additional investigations revealed a low serum albumin level and chest infection, along with diffuse lung fibrosis. Within 1 month, he experienced significant weight loss, no hand tremors, intolerance of heat, and perspiration proneness. We recommended an HIV examination; subsequently, AIDS was diagnosed based on the laboratory parameters. This is the first reported case of hyperthyroidism caused by AIDS. AIDS may cause hyperthyroidism by immunization regulation with complex, atypical, and easily ignored symptoms. Although hyperthyroidism is rare in patients with AIDS, clinicians should be aware of this potential interaction and should carefully monitor thyroid function in HIV-positive patients.

  3. Syndromic autism: causes and pathogenetic pathways.

    Science.gov (United States)

    Benvenuto, Arianna; Moavero, Romina; Alessandrelli, Riccardo; Manzi, Barbara; Curatolo, Paolo

    2009-08-01

    Autism is a severe neurodevelopmental disorder known to have many different etiologies. In the last few years, significant progresses have been made in comprehending the causes of autism and their multiple impacts on the developing brain. This article aims to review the current understanding of the etiologies and the multiple pathogenetic pathways that are likely to lead to the autistic phenotype. The PubMed database was searched with the keywords "autism" and "chromosomal abnormalities", "metabolic diseases", "susceptibility loci". Genetic syndromes, defined mutations, and metabolic diseases account for less than 20% of autistic patients. Alterations of the neocortical excitatory/inhibitory balance and perturbations of interneurons' development represent the most probable pathogenetic mechanisms underlying the autistic phenotype in fragile X syndrome and tuberous sclerosis complex. Chromosomal abnormalities and potential candidate genes are strongly implicated in the disruption of neural connections, brain growth and synaptic/dendritic morphology. Metabolic and mitochondrial defects may have toxic effects on the brain cells, causing neuronal loss and altered modulation of neurotransmission systems. A wide variety of cytogenetic abnormalities have been recently described, particularly in the low functioning individuals with dysmorphic features. Routine metabolic screening studies should be performed in the presence of autistic regression or suggestive clinical findings. As etiologies of autism are progressively discovered, the number of individuals with idiopathic autism will progressively shrink. Studies of genetic and environmentally modulated epigenetic factors are beginning to provide some clues to clarify the complexities of autism pathogenesis. The role of the neuropediatrician will be to understand the neurological basis of autism, and to identify more homogenous subgroups with specific biologic markers.

  4. Autoimmune Lymphoproliferative Syndrome: A Rare Cause of Disappearing HDL Syndrome

    Directory of Open Access Journals (Sweden)

    Swetha Sriram

    2016-01-01

    Full Text Available The term disappearing HDL syndrome refers to development of severe high density lipoprotein cholesterol (HDL-C deficiency in noncritically ill patients with previously normal HDL-C and triglyceride levels. Autoimmune lymphoproliferative syndrome (ALPS is a disorder of the immune system due to an inability to regulate lymphocyte homeostasis resulting in lymphadenopathy and hepatosplenomegaly. We describe a 17-year-old boy who was evaluated in the lipid clinic for history of undetectable or low HDL-C and low density lipoprotein cholesterol (LDL-C levels. Past medical history was significant for ALPS IA diagnosed at 10 years of age when he presented with bilateral cervical adenopathy. He was known to have a missense mutation in one allele of the FAS protein extracellular domain consistent with ALPS type 1A. HDL-C and LDL-C levels had been undetectable on multiple occasions, though lipids had not been measured prior to the diagnosis of ALPS. He had been receiving sirolimus for immunosuppression. The HDL-C and LDL-C levels correlated with disease activity and improved to normal levels during times when the activity of ALPS was controlled. This case highlights the importance of considering ALPS as a cause of low HDL-C and LDL-C levels in a child with evidence of lymphoproliferation.

  5. Azithromycin Causes a Novel Proarrhythmic Syndrome.

    Science.gov (United States)

    Yang, Zhenjiang; Prinsen, Joseph K; Bersell, Kevin R; Shen, Wangzhen; Yermalitskaya, Liudmila; Sidorova, Tatiana; Luis, Paula B; Hall, Lynn; Zhang, Wei; Du, Liping; Milne, Ginger; Tucker, Patrick; George, Alfred L; Campbell, Courtney M; Pickett, Robert A; Shaffer, Christian M; Chopra, Nagesh; Yang, Tao; Knollmann, Bjorn C; Roden, Dan M; Murray, Katherine T

    2017-04-01

    The widely used macrolide antibiotic azithromycin increases risk of cardiovascular and sudden cardiac death, although the underlying mechanisms are unclear. Case reports, including the one we document here, demonstrate that azithromycin can cause rapid, polymorphic ventricular tachycardia in the absence of QT prolongation, indicating a novel proarrhythmic syndrome. We investigated the electrophysiological effects of azithromycin in vivo and in vitro using mice, cardiomyocytes, and human ion channels heterologously expressed in human embryonic kidney (HEK 293) and Chinese hamster ovary (CHO) cells. In conscious telemetered mice, acute intraperitoneal and oral administration of azithromycin caused effects consistent with multi-ion channel block, with significant sinus slowing and increased PR, QRS, QT, and QTc intervals, as seen with azithromycin overdose. Similarly, in HL-1 cardiomyocytes, the drug slowed sinus automaticity, reduced phase 0 upstroke slope, and prolonged action potential duration. Acute exposure to azithromycin reduced peak SCN5A currents in HEK cells (IC 50 =110±3 μmol/L) and Na + current in mouse ventricular myocytes. However, with chronic (24 hour) exposure, azithromycin caused a ≈2-fold increase in both peak and late SCN5A currents, with findings confirmed for I Na in cardiomyocytes. Mild block occurred for K + currents representing I Kr (CHO cells expressing hERG; IC 50 =219±21 μmol/L) and I Ks (CHO cells expressing KCNQ1+KCNE1; IC 50 =184±12 μmol/L), whereas azithromycin suppressed L-type Ca ++ currents (rabbit ventricular myocytes, IC 50 =66.5±4 μmol/L) and I K1 (HEK cells expressing Kir2.1, IC 50 =44±3 μmol/L). Chronic exposure to azithromycin increases cardiac Na + current to promote intracellular Na + loading, providing a potential mechanistic basis for the novel form of proarrhythmia seen with this macrolide antibiotic. © 2017 American Heart Association, Inc.

  6. Goldenhar syndrome: a cause of secondary immunodeficiency?

    Directory of Open Access Journals (Sweden)

    De Golovine Serge

    2012-07-01

    Full Text Available Abstract Goldenhar syndrome (GS results from an aberrant development of the 1st and 2nd branchial arches. There is a wide range of clinical manifestations, the most common being microtia, hemifacial microsomia, epibulbar dermoids and vertebral malformations. We present two cases of GS and secondary immunodeficiency due to anatomical defects characteristic of this disorder. Case 1 (3-year-old female averaged 6 episodes of sinusitis and otitis media per year. Case 2 (7-year-old female also had recurrent otitis media, an episode of bacterial pneumonia, and 2 episodes of bacterial meningitis. Their immune evaluation included a complete blood count with differential, serum immunoglobulin levels and specific antibody concentrations, lymphocyte phenotyping, and mitogen and antigen responses, the results of which were all within normal ranges. Both children demonstrated major structural abnormalities of the inner and middle ear structures, retention of fluid in mastoid air cells, and chronic sinusitis by computed tomography. These two cases illustrate how a genetically-associated deviation of the middle ear cleft can cause recurrent infections and chronic inflammation of the middle ear and adjacent sinuses, even meninges, leading to a greatly reduced quality of life for the child and parents.

  7. Goldenhar syndrome: a cause of secondary immunodeficiency?

    Science.gov (United States)

    2012-01-01

    Goldenhar syndrome (GS) results from an aberrant development of the 1st and 2nd branchial arches. There is a wide range of clinical manifestations, the most common being microtia, hemifacial microsomia, epibulbar dermoids and vertebral malformations. We present two cases of GS and secondary immunodeficiency due to anatomical defects characteristic of this disorder. Case 1 (3-year-old female) averaged 6 episodes of sinusitis and otitis media per year. Case 2 (7-year-old female) also had recurrent otitis media, an episode of bacterial pneumonia, and 2 episodes of bacterial meningitis. Their immune evaluation included a complete blood count with differential, serum immunoglobulin levels and specific antibody concentrations, lymphocyte phenotyping, and mitogen and antigen responses, the results of which were all within normal ranges. Both children demonstrated major structural abnormalities of the inner and middle ear structures, retention of fluid in mastoid air cells, and chronic sinusitis by computed tomography. These two cases illustrate how a genetically-associated deviation of the middle ear cleft can cause recurrent infections and chronic inflammation of the middle ear and adjacent sinuses, even meninges, leading to a greatly reduced quality of life for the child and parents. PMID:22747588

  8. Subacromial osteochondroma: A rare cause of impingement syndrome

    OpenAIRE

    Çıtlak, Atilla; Akgün, Ulaş; Bulut, Tugrul; Aslan, Cihan; Mete, Berna Dirim; Şener, Muhittin

    2014-01-01

    Introduction Subacromial impingement syndrome is one of the most common disorders of shoulder. Scapula is a very rare site for osteochondromas, and osteochondromas arising under the acromion cause impingement syndrome. Presentation of case We presented 34-year old female patient with subacromial impingement syndrome secondary to osteochondroma. She had received conservative treatment several times in other clinics. The osteochondroma causing impingement was not diagnosed. Physical examination...

  9. Author Details

    African Journals Online (AJOL)

    Sabri, AN. Vol 1, No 2 (2008) - Articles Budd Chiari Syndrome in a Fifteen-Year Old Girl with Systemic Lupus Erythematosus Abstract PDF. ISSN: 1596-9819. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and Conditions ...

  10. effect of helicobacter pylori infection on deep vein thrombosis seen ...

    African Journals Online (AJOL)

    hi-tech

    Bayraktar, Y., Balkanci, F. and Kansu, E. Budd-Chiari syndrome: Analysis of 30 cases. Angiology. 1993; 44: 541. 10. Gul, A., Ozbek, U., Ozturk, C., et al. Coagulation factor. V gene mutation increases the risk of venous thrombosis in Behçet's disease. Brit. Rheumatol. 1996; 35: 1178. 11. Lenk, N., Ozet, G., Alli, N., et al.

  11. Author Details

    African Journals Online (AJOL)

    Jaffery, G. Vol 1, No 2 (2008) - Articles Budd Chiari Syndrome in a Fifteen-Year Old Girl with Systemic Lupus Erythematosus Abstract PDF. ISSN: 1596-9819. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and Conditions ...

  12. Schimidt Syndrome: An Unusual Cause of Hypercalcaemia.

    Science.gov (United States)

    Jose, Nisha; Kurian, George Prashanth

    2016-05-01

    Autoimmune polyglandular syndrome type 2 also known as Schmidt syndrome. It is a rare disorder involving a combination of Addison's disease with autoimmune thyroid disease with or without type 1 diabetes mellitus. In this case report one such patient with this rare syndrome is described who presented with hyperpigmentation of knuckles, palms and soles with significant weight loss for 2 months. At presentation she also had severe hypercalcaemia. Severe hypercalcaemia is rare and hypercalcaemia at the initial presentation of Addison's disease is also unusual. The mechanism of hypercalcaemia in addisons and management of this patient is discussed.

  13. A rare cause of pancytopenia: Sheehan′s syndrome

    Directory of Open Access Journals (Sweden)

    Mustafa Volkan Demir

    2015-01-01

    Full Text Available Sheehan′s syndrome is characterized by varying degrees of anterior pituitary dysfunction due to postpartum ischemic necrosis of the pituitary gland after massive bleeding. Pancytopenia is rarely observed in patients with Sheehan′s syndrome. We present a patient of Sheehan′s syndrome presenting with pancytopenia. Complete recovery of pancytopenia was observed after the treatment. Clinicians should consider the possibility of hypopituitarism as a cause of pancytopenia and indicate a series of hormonal examinations. A high index of suspicion is required in women with pancytopenia for possible treatable cause like Sheehan′s syndrome.

  14. Is aspirin a cause of Reye's syndrome? A case against.

    Science.gov (United States)

    Orlowski, James P; Hanhan, Usama A; Fiallos, Mariano R

    2002-01-01

    Reye's syndrome was a rare disease which appeared suddenly in the early 1950s and disappeared just as suddenly in the late 1980s. An association between Reye's syndrome and the ingestion of aspirin (acetylsalicylic acid) was claimed, although no proof of causation was ever established. The presence of salicylates in the blood or urine of Reye's syndrome patients has not been demonstrated, and no animal model of Reye's syndrome has been developed where aspirin causes the disease. It is clear from epidemiological data that the incidence of Reye's syndrome was decreasing well before warning labels were placed on aspirin products. Reye's syndrome disappeared from countries where aspirin was not used in children as well as from countries which continued to use aspirin in children. Reye's syndrome was probably either a viral mutation which spontaneously disappeared, or a conglomeration of metabolic disorders that had not been recognized or described at that time.

  15. Conceptual developments in the causes of Cockayne syndrome.

    Science.gov (United States)

    Cleaver, James E; Bezrookove, Vladimir; Revet, Ingrid; Huang, Eric J

    2013-01-01

    Cockayne syndrome is an autosomal recessive disease that covers a wide range of symptoms, from mild photosensitivity to severe neonatal lethal disorder. The pathology of Cockayne syndrome may be caused by several mechanisms such as a DNA repair deficiency, transcription dysregulation, altered redox balance and mitochondrial dysfunction. Conceivably each of these mechanisms participates during a different stage in life of a Cockayne syndrome patient. Endogenous reactive oxygen is considered as an ultimate cause of DNA damage that contributes to Cockayne syndrome pathology. Here we demonstrate that mitochondrial reactive oxygen does not cause detectable nuclear DNA damage. This observation implies that a significant component of Cockayne syndrome pathology may be due to abnormal mitochondrial function independent of nuclear DNA damage. The source of nuclear DNA damage to central nervous system tissue most likely occurs from extrinsic neurotransmitter signaling. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  16. Serotonin syndrome caused by olanzapine and clomipramine.

    Science.gov (United States)

    Verre, M; Bossio, F; Mammone, A; Piccirillo, M; Tancioni, F; Tortorella, V; Varano, M

    2008-01-01

    We describe a case of severe serotonin syndrome. The patient was simultaneously taking the atypical antidepressant olanzapine and a tricyclical antidepressant, clomipramine. Symptoms included altered mental state resulting in coma, myoclonus, hyperreflexia, diaphoresis, diarrhoea, disorientation and fever. After suspension of antidepressant drugs, intensive symptomatic treatment and administration of biperiden and cyproheptadine, the patient's condition improved.

  17. Chronic Fatigue Syndrome: Searching for the Cause and Treatment.

    Science.gov (United States)

    Eichner, Edward R.

    1989-01-01

    Chronic fatigue syndrome became known nationally in l985 with a pseudoepidemic in a Nevada resort community. Initially and erroneously linked to the Epstein-Barr virus, the cause of this puzzling syndrome and the mind-body connection are areas of controversy and research. (Author/SM)

  18. Myalgic Encephalomyelitis/Chronic Fatigue Syndrome: Possible Causes

    Science.gov (United States)

    ... Controls Search Form Controls Cancel Submit Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Note: Javascript is disabled or is not supported ... have not yet identified what causes myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS). It is possible that ME/CFS ...

  19. Superior mesenteric artery syndrome: an uncommon cause of ...

    African Journals Online (AJOL)

    Upper gastrointestinal symptoms like vomiting, abdominal pain, abdominal distention may be caused by many conditions like complicated peptic/duodenal ulcer, gastritis or hiatal hernia. However, these symptoms are uncommonly produced by superior mesenteric artery (SMA) syndrome. SMA syndrome is triggered when ...

  20. Cushing's syndrome caused by ectopic ACTH secretion from ...

    African Journals Online (AJOL)

    Ectopic adrenocorticotrophic hormone (ACTH) secretion accounts for 9 -18% of all causes of Cushing's syndrome.' The commonest source of the ectopic ACTH syndrome is carcinoma of the lung, with a smaller contribution from carcinoid tumours. While bronchial carcinoid tumours are reported to be responsible for 5 - 39% ...

  1. Dysphagia caused by a lateral medullary infarction syndrome ...

    African Journals Online (AJOL)

    ... had shown an acute ischemic stroke in the left lateral medullar region and the diagnosis of Wallenberg syndrome (WS) was established. WS remains an unknown cause of dysphagia in the clinical practice of the gastroenterologist. Key words: Dysphagia, lateral medullary infarction, Wallenberg's syndrome, deglutition ...

  2. Carpal tunnel syndrome caused by lipoma: a case report | Sbai ...

    African Journals Online (AJOL)

    . A lipoma of the hand causing a carpal tunnel syndrome by compression of the median nerve is exceptional. We report the case of a 70-year-old female presenting with a carpal tunnel syndrome. A compression of the median nerve by a ...

  3. Drug hypersensitivity syndrome caused by minocycline.

    Science.gov (United States)

    Tsuruta, Daisuke; Someda, Yukiko; Sowa, Junko; Kobayashi, Hiromi; Ishii, Masamitsu

    2006-01-01

    Minocycline is a commonly prescribed drug for the treatment of acne. Its use is generally not associated with systemic side effects. To describe a case of minocycline-induced drug hypersensitivity syndrome in a 20-year-old Japanese woman. Following 2 months of minocycline treatment, the patient developed skin lesions composed of exudative maculopapules, purpuratous macules, and target-like, erythema multiforme-like plaques over most of her body. In addition, she had fever, abnormal liver function tests, eosinophilia, and atypical lymphocytosis. Laboratory tests indicated no elevation of antibody titers against cytomegalovirus, Epstein-Barr virus, and human herpesvirus 6. Her ongoing exposure to minocycline was stopped, and treatment with oral prednisolone was begun. Her signs, symptoms, and laboratory abnormalities then began to resolve. Subsequently, the syndrome was observed to return briefly in response to an oral challenge with minocycline. Minocycline is able to elicit a drug hypersensitivity syndrome that can resemble infectious mononucleosis. This drug reaction can be treated effectively by cessation of exposure to this drug and steroid therapy.

  4. Infectious causes of sudden infant death syndrome.

    Science.gov (United States)

    Alfelali, Mohammad; Khandaker, Gulam

    2014-12-01

    Investigators have long suspected the role of infection in sudden infant death syndrome (SIDS). Evidence of infectious associations with SIDS is accentuated through the presence of markers of infection and inflammation on autopsy of SIDS infants and isolates of some bacteria and viruses. Several observational studies have looked into the relation between seasonality and incidence of SIDS, which often showed a winter peak. These all may suggest an infectious aetiology of SIDS. In this review we have summarised the current literature on infectious aetiologies of SIDS by looking at viral, bacterial, genetic and environmental factors which are believed to be associated with SIDS. Copyright © 2014 Elsevier Ltd. All rights reserved.

  5. Cirrhosis: CT and MR imaging evaluation

    Energy Technology Data Exchange (ETDEWEB)

    Brancatelli, Giuseppe [Sezione di Radiologia, Ospedale Specializzato in Gastroenterologia, ' Saverio de Bellis' -IRCCS, 70013 Castellana Grotte (Bari) (Italy) and Sezione di Scienze Radiologiche, Dipartimento di Biotecnologie Mediche e Medicina Legale, Universita di Palermo, Via del Vespro 127, 90127 Palermo (Italy) and Department of Radiology, University of Pittsburgh Medical Center, 200 Lothrop Street, 15213 Pittsburgh, PA (United States)]. E-mail: gbranca@yahoo.com; Federle, Michael P. [Department of Radiology, University of Pittsburgh Medical Center, 200 Lothrop Street, 15213 Pittsburgh, PA (United States); Ambrosini, Roberta [Department of Diagnostic and Interventional Radiology, ' Maggiore della Carita' University Hospital, ' A.Avogadro' Eastern Piemonte University, Corso Mazzini 18, Novara (Italy); Lagalla, Roberto [Sezione di Scienze Radiologiche, Dipartimento di Biotecnologie Mediche e Medicina Legale, Universita di Palermo, Via del Vespro 127, 90127 Palermo (Italy); Carriero, Alessandro [Department of Diagnostic and Interventional Radiology, ' Maggiore della Carita' University Hospital, ' A.Avogadro' Eastern Piemonte University, Corso Mazzini 18, Novara (Italy); Midiri, Massimo [Sezione di Scienze Radiologiche, Dipartimento di Biotecnologie Mediche e Medicina Legale, Universita di Palermo, Via del Vespro 127, 90127 Palermo (Italy); Vilgrain, Valerie [Service de Radiologie, Hopital Beaujon, 100 Boulevard du General Leclerc, 92118 Clichy (France)

    2007-01-15

    In this article, we present the CT and MR imaging characteristics of the cirrhotic liver. We describe the altered liver morphology in different forms of viral, alcoholic and autoimmune end-stage liver disease. We present the spectrum of imaging findings in portal hypertension, such as splenomegaly, ascites and varices. We describe the patchy and lacelike patterns of fibrosis, along with the focal confluent form. The process of hepatocarcinogenesis is detailed, from regenerative to dysplastic nodules to overt hepatocellular carcinoma. Different types of non-neoplastic focal liver lesions occurring in the cirrhotic liver are discussed, including arterially enhancing nodules, hemangiomas and peribiliary cysts. We show different conditions causing liver morphology changes that can mimic cirrhosis, such as congenital hepatic fibrosis, 'pseudo-cirrhosis' due to breast metastases treated with chemotherapy, Budd-Chiari syndrome, sarcoidosis and cavernous transformation of the portal vein.

  6. [Gastrointestinal surgery and gastroenterology. XV. Polycystic liver disease].

    Science.gov (United States)

    Janssens, A R; Janssen, M J F M

    2002-05-11

    Polycystic liver disease is a congenital disorder with an autosomal dominant pattern of inheritance. There are two variants. In one, liver cysts occur as an extra-renal phenomenon in autosomal dominant polycystic kidney disease. In the other, the disease is not associated with renal pathology. The cysts have to reach a certain diameter before becoming clinically manifest and therefore are generally only detected many years after birth. Polycystic liver disease causes symptoms in 20% of the patients. These symptoms are the consequence of the weight and size of the liver or of complications such as abscess formation, obstructive jaundice or the Budd-Chiari syndrome. Most symptoms can be treated at least temporarily by fenestration of the larger cysts and resection of parts of the liver, which are affected by large groups of small cysts. A permanent cure of the disease is only obtained by liver transplantation.

  7. Shoulder impingement syndrome : evaluation of the causes with MRI

    Energy Technology Data Exchange (ETDEWEB)

    Choi, Yong Ho; Song, In Sup; Chung, Hun Young; Yoon, Sang Jin; Kim, Yang Soo; Shim, Hyung Jin; Choi, Young Hee; Lee, Jong Beum; Lee, Yong Chul; Kim, Kun Sang [Chungang Univ. College of Medicine, Seoul (Korea, Republic of); Choi, Yun Sun [Eulji Hospital, College of Medicine, Seoul (Korea, Republic of)

    1999-12-01

    Various mechanical causes which induce shoulder impingement syndrome have been identified with the help of MRI. The aim of this study is to evaluate the incidence of such causes. A total of 54 patients with clinically confirmed shoulder impingement syndrome and a normal control group(n=20) without symptoms were included. We evaluated the incidence of hook shaped acromion, low lying acromion, downward slope of the acromion, subacromial spur, acromioclavicular joint hypertrophy, coracoacromial ligament hypertrophy, high cuff muscle bulk, and os acromiale. Among the 54 patients, the following conditions were present: acromioclavicular joint hypertrophy(n=36), coracoacromial ligament hypertrophy(n=20), subacromial spur(n=18), downward sloping of the acromion(n=16), hook shaped acromion(n=11), relatively high cuff muscle bulk(n=6), low lying acromion relative to the clavicle(n=3), and os acromiale(n=1). In the normal control group there were nine cases of acromioclavicular joint hypertrophy, nine of coracoacromial ligament hypertrophy, nine of downward sloping acromion, and three of low lying acromion, but hook shaped acromion, high cuff muscle bulk, and os acromiale were not found. Among 54 patients, the syndrome was due to five simultancous causes in one patient, four causes in two, three causes in 12, two causes in 22, and one cause in 17. Hook shaped acromion and subacromial spur are the statistically significant causes of shoulder impingement syndrome. In 69% of patients, the condition was due to more than one cause.

  8. 'Bony' cubital tunnel syndrome caused by heterotopic ossification.

    Science.gov (United States)

    Wu, Yuxuan; Liu, Meng; Qu, Wei

    2017-10-11

    We reported a rare case of cubital tunnel syndrome caused by heterotopic ossification after burns. The ulnar nerve was encircled by bony tunnel structure which cause nerve compression, resulting in ulnar nerve lesion. Our case sheds light on possible etiological association which may help clinical management.

  9. Quadrilateral space syndrome: a rare cause of shoulder pain.

    Science.gov (United States)

    Cormier, P J; Matalon, T A; Wolin, P M

    1988-06-01

    The authors report a case of quadrilateral space syndrome in a baseball pitcher. The diagnosis was made by means of subclavian arteriography performed with the arm in abduction and external rotation. This entity is a rare cause of shoulder pain caused by occlusion of the posterior humeral circumflex artery in the quadrilateral space.

  10. Parinaud's oculoglandular syndrome and possibly causing cortical cataract

    Directory of Open Access Journals (Sweden)

    Mariana Heid Rocha Hemerly

    2014-06-01

    Full Text Available According to the World Health Organization, cataract is the leading cause of blindness and visual impairment throughout the world. However, the etiology of cataracts often remains unknown. This report describes the development of cortical cataract in a patient after Parinaud's oculoglandular syndrome caused by the fungus Sporothrix schenckii.

  11. Giant lipoma: an unusual cause of carpal tunnel syndrome | Jalan ...

    African Journals Online (AJOL)

    Carpal tunnel syndrome, in its idiopathic form, is an extremely common entrapment neuropathy in the clinical practice however secondary compressive causes are rare. Among secondary causes, tumors are even rarer. Although lipomas are the most common soft tissue tumor in the body, <5% of the benign tumors of the ...

  12. A nonsense mutation in FMR1 causing fragile X syndrome

    DEFF Research Database (Denmark)

    Grønskov, Karen; Brøndum-Nielsen, Karen; Dedic, Alma

    2011-01-01

    Fragile X syndrome is a common cause of inherited intellectual disability. It is caused by lack of the FMR1 gene product FMRP. The most frequent cause is the expansion of a CGG repeat located in the 5'UTR of FMR1. Alleles with 200 or more repeats become hypermethylated and transcriptionally silent....... Only few patients with intragenic point mutations in FMR1 have been reported and, currently, routine analysis of patients referred for fragile X syndrome includes solely analysis for repeat expansion and methylation status. We identified a substitution in exon 2 of FMR1, c.80C>A, causing a nonsense...... mutation p.Ser27X, in a patient with classical clinical symptoms of fragile X syndrome. The mother who carried the mutation in heterozygous form presented with mild intellectual impairment. We conclude that further studies including western blot and DNA sequence analysis of the FMR1 gene should...

  13. [Lyell syndrome and Stevens-Johnson syndrome caused by lamotrigine].

    Science.gov (United States)

    Bocquet, H; Farmer, M; Bressieux, J M; Barzegar, C; Jullien, M; Soto, B; Roujeau, J C; Revuz, J

    1999-01-01

    Lamotrigine is a new anticonvulsant belonging to the triazine family. Several cases of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) have been described in patients taking this drug. We report 2 cases in children attending the same hospital. Two children, aged 9 and 13 years, developed SJS and TEN respectively, 3 and 28 days after lamotrigine was added to their usual anticonvulsant regimen. In both cases, outcome was favorable despite major decline in psychomotor capacity in one. In the first case, chronological attributability was plausible for lamotrigine and doubtful for sodium valproate, clonazepam and hydrocortisone. In the second case, chronological attributability was probable for amoxicillin, plausible for lamotrigine and doubtful for sodium valproate, but the numerous previous absorptions of amoxicillin made lamotrigine more suspect. The risk of Steven-Johnson syndrome and toxic epidermal necrolysis is high with lamotrigine with an estimated frequency of 1/1000. This risk is probably higher than with other anticonvulsants. Associating lamotrigine with sodium valproate increases the frequency of adverse skin reactions.

  14. Infraclavicular subpectoral lipoma causing thoracic outlet syndrome

    Directory of Open Access Journals (Sweden)

    Stefano Elia

    2015-01-01

    Conclusion: Although benign soft tissue tumors infraclavicular subpectoral lipomas may exert pressure on neurovascular surrounding structures during their progressive expansion and cause TOS. Therefore, a thorough preoperative study by radiological imaging such as MRI or neurophysiological test should always be performed in order to prevent unintentional lesions of the involved axillo-subclavicular plexus and plan correct surgical procedure.

  15. Subacromial Impingement Syndrome Caused by a Voluminous Subdeltoid Lipoma

    OpenAIRE

    Jean-Christophe Murray; Stéphane Pelet

    2014-01-01

    Subacromial impingement syndrome is a clinical diagnosis encompassing a spectrum of possible etiologies, including subacromial bursitis, rotator cuff tendinopathy, and partial- to full-thickness rotator cuff tears. This report presents an unusual case of subdeltoid lipoma causing extrinsic compression and subacromial impingement syndrome. The patient, a 60-year-old man, presented to our institution with a few years' history of nontraumatic, posteriorly localized throbbing pain in his right sh...

  16. A Rare Cause of Macroscobic Hematuria: Nutcracker Syndrome

    Directory of Open Access Journals (Sweden)

    Nilgün Selçuk Duru

    2015-03-01

    Full Text Available Nutcracker syndrome caused by compression of the left renal vein between the abdominal aorta and the superior mesenteric artery is a rare anatomo-pathological condition. The patients have symptoms such as hematuria, proteinuria, and left flank pain. In this paper, we report a 13-year-old boy who presented with macroscopic haematuria. Routine laboratory tests for the evaluation of hematuria were normal. Abdominal computed tomography revealed that the left renal vein was compressed between the aorta and the superior mesenteric artery. A diagnosis of nutcracker syndrome was established. If Nutcracker syndrome is considered in the differential diagnosis of haematuria, it is easily diagnosed by imaging techniques.

  17. Iatrogenic Cushing’s syndrome caused by intranasal steroid use

    Science.gov (United States)

    Dursun, Fatma; Kirmizibekmez, Heves

    2017-01-01

    Cushing’s syndrome (CS) is common after oral steroid use and has also been reported following topical or inhaled use, but it is extremely uncommon after intranasal administration. This is the case of a 6-year-old child who developed Cushing’s syndrome after intranasal application of dexamethasone sodium phosphate for a period of 6 months. Pediatricians and other clinical practitioners should be aware that high-dose and long-term nasal steroid administration may cause iatrogenic Cushing’s syndrome characterized by complications of glucocorticoid excess as well as serious and even life-threatening complications of adrenal insufficiency. PMID:28752153

  18. Iatrogenic Cushing's syndrome caused by intranasal steroid use.

    Science.gov (United States)

    Dursun, Fatma; Kirmizibekmez, Heves

    2017-01-01

    Cushing's syndrome (CS) is common after oral steroid use and has also been reported following topical or inhaled use, but it is extremely uncommon after intranasal administration. This is the case of a 6-year-old child who developed Cushing's syndrome after intranasal application of dexamethasone sodium phosphate for a period of 6 months. Pediatricians and other clinical practitioners should be aware that high-dose and long-term nasal steroid administration may cause iatrogenic Cushing's syndrome characterized by complications of glucocorticoid excess as well as serious and even life-threatening complications of adrenal insufficiency.

  19. Intrasynovial lipoma causing trigger wrist and carpal tunnel syndrome.

    Science.gov (United States)

    Imai, Shinji; Kodama, Narihito; Matsusue, Yoshitaka

    2008-01-01

    Triggering of the flexor tendon at the wrist is rare. We report a case of intrasynovial lipoma that caused a trigger wrist. As far as we know it is unique in that the intrasynovial lipoma simultaneously caused carpal tunnel syndrome. The massive tenosynovitis and adhesion of flexors tendons after the locking of the intrasynovial lipoma may have resulted from inflammation caused by attrition within the carpal tunnel.

  20. Diagnostic imaging of vascular leiomyosarcomas; Bildgebende Diagnostik von vaskulaeren Leiomyosarkomen

    Energy Technology Data Exchange (ETDEWEB)

    Kreft, B.; Flacke, S.; Textor, J.; Schild, H.H. [Bonn Univ., Radiologische Klinik (Germany); Zhou, H. [Bonn Univ., Pathologisches Inst. (Germany); Remig, J. [Chirurgische Klinik, Univ. Bonn (Germany)

    2004-02-01

    Primary vascular leiomyosarcomas are very rare tumors, with the venous variety most often arising from the inferior caval vein and the arterial variety from the pulmonal artery. The tumors show either an exclusive intra- or extravascular pattern or a mixed growth pattern. The clinical symptoms depend on tumor location, with intraluminal tumors of the inferior caval vein causing edema or a Budd-Chiari syndrome. Leiomyosarcomas of the pulmonal artery can mimic chronic central or recurrent peripheral pulmonary embolism. Contrast enhanced spiral CT with multiplanar reconstruction is the diagnostic method of choice when a vascular leiomyosarcoma is suspected. MRI with MR-angiography can be added. If a tumor of undetermined origin shows a broad contact with a vessel and/or an intraluminal component, possible primary vascular leiomyosarcoma should be included in the differential diagnosis. (orig.) [German] Primaere vaskulaere Leiomyosarkome sind sehr seltene Tumoren, die venoes meistens von der Vena cava inferior und arteriell von der Pulmonalarterie ausgehen. Die Tumoren zeigen entweder ein komplett extra- bzw. intravaskulaeres oder ein gemischtes Wachstum. Die klinischen Symptome der venoesen Tumoren richten sich nach der Lokalisation der Tumoren, wobei intraluminale Tumoren im Bereich der Vena cava inferior durch Oedeme oder ein Budd-Chiari-Syndrom auffallen koennen. Leiomyosarkome der Pulmonalarterien koennen chronische zentrale oder rezidivierende periphere Lungenembolie imitieren. Die kontrastverstaerkte Spiral-CT mit multiplanaren Rekonstruktionen ist die diagnostische Methode der Wahl bei V.a. ein vaskulaeres Leiomyosarkom, die durch die MRT in Kombination mit der MR-Angiographie ergaenzt werden kann. Differenzialdiagnostisch sollte bei unklarer Organzugehoerigkeit von Tumoren mit Kontakt zu Venen und/oder intraluminalem Anteil an die Moeglichkeit eines primaeren vaskulaeren Leiomyosarkoms gedacht werden. (orig.)

  1. Diffuse and vascular hepatic diseases; Diffuse und vaskulaere Lebererkrankungen

    Energy Technology Data Exchange (ETDEWEB)

    Kreimeyer, S.; Grenacher, L. [Universitaetsklinikum Heidelberg, Abteilung Diagnostische und Interventionelle Radiologie, Heidelberg (Germany)

    2011-08-15

    In addition to focal liver lesions, diffuse and vascular disorders of the liver represent a wide spectrum of liver diseases which are from the radiological point of view often difficult or nearly impossible to diagnose. Classical diagnostic methods are computed tomography and magnetic resonance imaging in addition to ultrasound. Diffuse parenchymal damage caused by diseases of various etiologies is therefore difficult to evaluate because it often lacks characteristic morphological features. For hepatic steatosis, hemochromatosis/siderosis as an example of a diffuse storage disease and sarcoidosis and candidiasis as infectious/inflammatory diseases, an image-based diagnosis is appropriate in some cases. For most diffuse liver diseases, however only nonspecific changes are visualized. Vascular pathologies of the liver, such as the Budd-Chiari syndrome and portal vein thrombosis, however, can usually be diagnosed very clearly using radiology and there is also a very effective interventional radiological treatment. Chronic diseases very often culminate in liver cirrhosis which is highly associated with an increased risk of liver cancer. (orig.) [German] Neben den fokalen Leberlaesionen stellen diffuse und vaskulaere Lebererkrankungen ein weites Spektrum an Erkrankungen der Leber dar, die radiologisch oft schwer oder gar nicht diagnostizierbar sind. Klassische diagnostische Verfahren sind dabei neben dem Ultraschall die Computertomographie und die Magnetresonanztomographie. Diffuse Parenchymschaeden, bedingt durch Erkrankungen unterschiedlichster Aetiologie, sind deshalb schwierig evaluierbar, weil haeufig charakteristische bildmorphologische Merkmale fehlen. Die Steatosis hepatis, die Haemochromatose/Siderose als Beispiel der Speicherkrankheiten sowie die Sarkoidose und die Candidose als infektioes-entzuendliche Erkrankungen sind einer bildbasierten Diagnosestellung z. T. zugaenglich, bei den meisten diffusen Lebererkrankungen jedoch zeigen sich lediglich unspezifische

  2. Subacromial osteochondroma: A rare cause of impingement syndrome.

    Science.gov (United States)

    Çıtlak, Atilla; Akgün, Ulaş; Bulut, Tugrul; Aslan, Cihan; Mete, Berna Dirim; Şener, Muhittin

    2015-01-01

    Subacromial impingement syndrome is one of the most common disorders of shoulder. Scapula is a very rare site for osteochondromas, and osteochondromas arising under the acromion cause impingement syndrome. We presented 34-year old female patient with subacromial impingement syndrome secondary to osteochondroma. She had received conservative treatment several times in other clinics. The osteochondroma causing impingement was not diagnosed. Physical examination of the right shoulder revealed 90° flexion, 70° abduction, 20° external rotation and internal rotation to sacrum. X-ray, CT and MRI of the shoulder was obtained. Osteochondroma of the acromion (35×33×25mm) causing impingement was detected. The osteochondroma of acromion compressed, displaced and ruptured the supraspinatus tendon. Also an osseous prominence of glenoid was detected during shoulder arthroscopy, and it was removed arthroscopically. The giant osteochondroma of acromion could not remove arthroscopically due to the size of the lesion, and it was removed totally through a mini open approach. Histopathological examination confirmed the diagnosis of osteochondroma. Scapular, clavicular and humeral osteochondromas cause impingement syndrome. Osteochondroma should be treated with total excision. Recurrences can be seen due to insufficient removal of osteochondromas. We think that, total excision is important to prevent recurrence. Subacromial osteochondroma is a very rare cause of impingement syndrome, and if it isn't diagnosed early it limits shoulder movements, causes severe shoulder impingement and rotator cuff tear. The diagnosis of subacromial osteochondroma should be considered in any patient with shoulder impingement syndrome and good functional results can be expected following total excision. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.

  3. Compartment syndrome causes systemic inflammation in a rat.

    Science.gov (United States)

    Lawendy, A-R; Bihari, A; Sanders, D W; Badhwar, A; Cepinskas, G

    2016-08-01

    Compartment syndrome results from increased intra-compartmental pressure (ICP) causing local tissue ischaemia and cell death, but the systemic effects are not well described. We hypothesised that compartment syndrome would have a profound effect not only on the affected limb, but also on remote organs. Using a rat model of compartment syndrome, its systemic effects on the viability of hepatocytes and on inflammation and circulation were directly visualised using intravital video microscopy. We found that hepatocellular injury was significantly higher in the compartment syndrome group (192 PI-labelled cells/10(-1) mm(3), standard error of the mean (sem) 51) compared with controls (30 PI-labelled cells/10(-1) mm(3), sem 12, p compartment syndrome group (5 leukocytes/30s/10 000 μm(2), sem 1) than controls (0.2 leukocytes/30 s/10 000 μm(2), sem 0.2, p Compartment syndrome can be accompanied by severe systemic inflammation and end organ damage. This study provides evidence of the relationship between compartment syndrome in a limb and systemic inflammation and dysfunction in a remote organ. Cite this article: Bone Joint J 2016; 98-B:1132-7. ©2016 The British Editorial Society of Bone & Joint Surgery.

  4. Dumping syndrome, a cause of acquired glycogenic hepatopathy.

    Science.gov (United States)

    Resnick, Jeffrey M; Zador, Ivan; Fish, Daryl L

    2011-01-01

    A 2-year-old boy, having undergone fundoplication for gastroesophageal reflux disease and fed by gastrostomy, presented with recurrent emesis, syncope with hypoglycemia, and persistently elevated serum liver transaminase levels. Liver biopsy revealed hepatocellular glycogenosis by light and electron microscopy. Further evaluation showed no evidence of diabetes mellitus, glycogen storage disease, or corticosteroid use. Since the hyperglycemic-hyperinsulinemic state of dumping syndrome would provide a mechanism for hepatocellular glycogenosis, the biopsy findings prompted consideration of dumping syndrome. Metabolic evaluation confirmed the diagnosis of dumping syndrome, and appropriate dietary management led to sustained resolution of symptomatology and hypertransaminasemia. Dumping syndrome is proposed to be a cause of hepatocellular glycogenosis, the latter representing a form of acquired glycogenic hepatopathy.

  5. Sick Building Syndrome: is mould the cause?

    Science.gov (United States)

    Terr, Abba I

    2009-01-01

    Moulds are responsible for diseases in humans through the three pathogenetic mechanisms of infection, allergy, and toxicity. Fungal infection is especially a risk factor for immunodeficient patients, but it occurs in immunocompetent patients as well. Fungal allergy is manifested as bronchial asthma, hypersensitivity pneumonitis, allergic bronchopulmonary aspergillosis, or allergic fungal sinusitis. Mycotoxicosis is almost exclusively the result of ingestion of mould-contaminated foodstuffs. In each case there is specificity for the etiologic mould. There is controversy regarding the ability of indoor airborne mould spores to cause human disease through non-specific toxicity via the inhalation route. Pulmonary mycotoxicosis is an established, although rare, occupational disease of farmers who inhale enormous quantities of mycotoxins, endotoxins, and other toxic chemicals from contaminated silage. Other conditions attributed to indoor airborne mycotoxin are unproven. These include infantile pulmonary hemosiderosis, epistaxis, 'toxic encephalopathy', immune dysregulation and a variety of subjective complaints without objective signs of pathology such as fatigue, headache, dyspnea, gastrointestinal distress, neuromuscular and skeletal complaints, etc. Non-specific irritation from moulds via the inhalation route is also a controversial subject that remains unproven. Published studies alleging an epidemiologic causal relationship are unconvincing.

  6. Propofol extravasation: a rare cause of compartment syndrome

    Science.gov (United States)

    Kalraiya, Ashish Jain; Madanipour, Suroosh; Colaco, Henry; Cobiella, Carlos

    2015-01-01

    We detail a rare cause of forearm compartment syndrome that occurred in an 18-year-old patient who presented with a Glasgow Coma Scale of 13/15 after a mixed drug overdose and subsequently required intubation. She suffered extravasation of her propofol infusion, which resulted in intrinsic compression within her forearm muscle compartments. Fortunately, the diagnosis of compartment syndrome was made swiftly and the patient was taken to theatre within 3 h where she underwent an emergency forearm fasciotomy. She made an uneventful recovery and at follow-up her wounds had healed well with no associated morbidity or loss of function. The learning points of this study highlight the importance of thoroughly understanding the signs and symptoms of compartment syndrome while maintaining a high index of suspicion. In addition to a thorough history and examination, consideration of the potential underlying causes allows for a swifter diagnosis and a quicker transition to theatre. PMID:25953583

  7. Causes of infertility in men with Down syndrome.

    Science.gov (United States)

    Stefanidis, K; Belitsos, P; Fotinos, A; Makris, N; Loutradis, D; Antsaklis, A

    2011-10-01

    Men with Down syndrome are considered as infertile although the causes of infertility are not known in detail yet. Although this constitutes a general rule there are three confirmed cases of parenting by fathers with Down syndrome. Many investigators have addressed the causes of infertility and their studies indicate that the causes may be hormonal deficits, morphological alterations of the gonads, abnormal spermatogenesis, psychological and social factors related to the mental retardation. It is obvious that the extra chromosome 21 has a detrimental direct and indirect effect on the reproductive capacity of the affected male patient. But the definite cause of the insufficient and inadequate spermatogenesis remains to be discovered. © 2011 Blackwell Verlag GmbH.

  8. Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)

    NARCIS (Netherlands)

    Hrebícek, Martin; Mrázová, Lenka; Seyrantepe, Volkan; Durand, Stéphanie; Roslin, Nicole M.; Nosková, Lenka; Hartmannová, Hana; Ivánek, Robert; Cízkova, Alena; Poupetová, Helena; Sikora, Jakub; Urinovská, Jana; Stranecký, Viktor; Zeman, Jirí; Lepage, Pierre; Roquis, David; Verner, Andrei; Ausseil, Jérome; Beesley, Clare E.; Maire, Irène; Poorthuis, Ben J. H. M.; van de Kamp, Jiddeke; van Diggelen, Otto P.; Wevers, Ron A.; Hudson, Thomas J.; Fujiwara, T. Mary; Majewski, Jacek; Morgan, Kenneth; Kmoch, Stanislav; Pshezhetsky, Alexey V.

    2006-01-01

    Mucopolysaccharidosis IIIC (MPS IIIC, or Sanfilippo C syndrome) is a lysosomal storage disorder caused by the inherited deficiency of the lysosomal membrane enzyme acetyl-coenzyme A: alpha -glucosaminide N-acetyltransferase (N-acetyltransferase), which leads to impaired degradation of heparan

  9. Superior Mesenteric Artery Syndrome: An Uncommon Cause of ...

    African Journals Online (AJOL)

    Patient had history of weight loss of about ten kilogram in the last 3 months; she weighed 30 kg and ... presented with features of gastric outlet obstruction which on further investigation was revealed as SMA syndrome. ... problems etc., The use of Harrington rods in corrective surgery of scoliosis is an important cause of SMA ...

  10. The syndrome of inappropriate antidiuretic hormone: prevalence, causes and consequences.

    LENUS (Irish Health Repository)

    Hannon, M J

    2010-06-01

    Hyponatraemia is the commonest electrolyte abnormality found in hospital inpatients, and is associated with a greatly increased morbidity and mortality. The syndrome of inappropriate antidiuretic hormone (SIADH) is the most frequent cause of hyponatraemia in hospital inpatients. SIADH is the clinical and biochemical manifestation of a wide range of disease processes, and every case warrants investigation of the underlying cause. In this review, we will examine the prevalence, pathophysiology, clinical characteristics and clinical consequences of hyponatraemia due to SIADH.

  11. Trismus Pseudocamptodactyly Syndrome: A Sporadic Cause of Trismus

    Directory of Open Access Journals (Sweden)

    Prathima Sreenivasan

    2013-01-01

    Full Text Available Trismus pseudocamptodactyly syndrome is a very rare autosomal dominant inherited disorder characterized by the inability to completely open the mouth (trismus and the presence of abnormally short tendon units causing the fingers to curve (camptodactyly. Early diagnosis and management of this condition is important to prevent facial deformities in the patient. Reporting such a case is important as case reports are one of the sources of data for calculating the prevalence of rare diseases. Here, we report a case of trismus pseudocamptodactyly syndrome in an eight-year-old boy with a brief review of the literature.

  12. Cushing's syndrome caused by use of synthetic ocular steroid.

    Science.gov (United States)

    Üstyol, A; Kökali, F; Duru, N; Duman, M A; Elevli, M

    2017-12-01

    Cases of Cushing's syndrome (CS) following ocular steroid use have been reported in recent years, albeit rarely. We report a case of iatrogenic CS in a child induced by fluorometholone-containing eyedrops. Our patient was referred to our endocrinology clinic due to rapid weight gain. His history revealed that 1.5 months previously he had been started on fluorometholone eyedrops. To the best of our knowledge, no cases of CS have been reported following ocular fluorometholone use. Although eyedrops containing potent glucocorticoids may lead to CS, fluorometholone, a relatively less potent steroid, may also cause the syndrome, as in our case. © 2017 John Wiley & Sons Ltd.

  13. Cubital tunnel syndrome caused by hypertrophic burn scarring: Sonographic envisage

    Directory of Open Access Journals (Sweden)

    Alparslan Bayram Carli

    2015-08-01

    Full Text Available In nerve entrapment syndromes, an electrodiagnostic study during physical examination would usually suffice to assess localization of injury. However, in daily clinical practice, sometimes it may be necessary to depict the insight; in other words to use an imaging tool. From this point of view, with its manifold advantages, ultrasound (US is superior to other imaging technologies such as magnetic resonance imaging (MRI. According to a study, US increased the sensitivity of electrodiagnostic studies from 78% to 98%. By presenting a patient with cubital tunnel syndrome caused by hypertrophic scarring, we wanted to highlight the complementary role of US in nerve entrapment syndromes in confirming the entrapment, as well as the usefulness of it in the follow-up period of burn patients. [Hand Microsurg 2015; 4(2.000: 44-46

  14. Another cause of vaccine encephalopathy: a case of Angelman syndrome.

    Science.gov (United States)

    Novy, Jan; Catarino, Claudia B; Chinthapalli, Krishna; Smith, Shelagh M; Clayton-Smith, Jill; Hennekam, Raoul C M; Hammond, Peter; Sisodiya, Sanjay M

    2012-05-01

    Dravet syndrome has been found recently as an important underlying condition in cases of alleged vaccine encephalopathy after pertussis vaccination, where vaccination seemed to have precipitated the occurrence of the disease without modifying the long-term course. We report on a patient diagnosed with Angelman syndrome in her fifth decade, in whom the intellectual disability and epilepsy had been assumed to be caused by a vaccine encephalopathy following smallpox vaccination. Clinical features of Angelman syndrome had faded away. The history of the present patient suggests that genetic conditions other than Dravet syndrome can be associated with an alleged vaccine encephalopathy. A history of vaccine encephalopathy is rare among patients with learning disability and refractory epilepsy (1.4% in our cohort), but it should lead to consideration of a comprehensive genetic work-up if Dravet syndrome is excluded. The early history of the patient, when available, should guide the investigations. Medico-legal aspects are also discussed. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  15. A dominant STIM1 mutation causes Stormorken syndrome.

    Science.gov (United States)

    Misceo, Doriana; Holmgren, Asbjørn; Louch, William E; Holme, Pål A; Mizobuchi, Masahiro; Morales, Raul J; De Paula, André Maues; Stray-Pedersen, Asbjørg; Lyle, Robert; Dalhus, Bjørn; Christensen, Geir; Stormorken, Helge; Tjønnfjord, Geir E; Frengen, Eirik

    2014-05-01

    Stormorken syndrome is a rare autosomal-dominant disease with mild bleeding tendency, thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. A heterozygous missense mutation in STIM1 exon 7 (c.910C>T; p.Arg304Trp) (NM_003156.3) was found to segregate with the disease in six Stormorken syndrome patients in four families. Upon sensing Ca(2+) depletion in the endoplasmic reticulum lumen, STIM1 undergoes a conformational change enabling it to interact with and open ORAI1, a Ca(2+) release-activated Ca(2+) channel located in the plasma membrane. The STIM1 mutation found in Stormorken syndrome patients is located in the coiled-coil 1 domain, which might play a role in keeping STIM1 inactive. In agreement with a possible gain-of-function mutation in STIM1, blood platelets from patients were in a preactivated state with high exposure of aminophospholipids on the outer surface of the plasma membrane. Resting Ca(2+) levels were elevated in platelets from the patients compared with controls, and store-operated Ca(2+) entry was markedly attenuated, further supporting constitutive activity of STIM1 and ORAI1. Thus, our data are compatible with a near-maximal activation of STIM1 in Stormorken syndrome patients. We conclude that the heterozygous mutation c.910C>T causes the complex phenotype that defines this syndrome. © 2014 WILEY PERIODICALS, INC.

  16. Prevalence and causes of back pain syndromes in children

    Directory of Open Access Journals (Sweden)

    A.A. Smirnova

    2014-01-01

    Full Text Available We present a review of literature devoted to epidemiology, and the nosological and syndromal structure of back pain in children. The data of our own study of school-aged children with back pain are presented. The structure of back pain syndromes in 105 children has been analyzed using the medical aid appealability data. The results of a comprehensive clinical and instrumental study demonstrated that the children mostly had lumbosacral pain (52.4% of cases; neck pain was observed in 29.5% of cases; while thoracic pain syndromes were observed in 18.1% of cases. Congenital defect of the connective tissue was diagnosed in 16.19% of children; congenital abnormalities of the spine, in 15.2%; scoliosis (idiopathic and secondary, in 8.6%; and Scheuermann-Mau's disease, in 5.71%. The conclusion has been made about the high prevalence of back pain in schoolchildren. Muscular tonic syndromes were prevailing in the clinical structure in children; radicular syndromes were less frequent. Musculoskeletal disorders were the main causes of back pain. Congenital defect of the connective tissue was often observed, which was revealed as functional instability of the vertebral motor segment, spondylolisthesis due to weak ligaments, and disc protrusions. Congenital abnormalities of the spine, scoliosis, and Scheuermann-Mau' disease were observed less often. 

  17. Trismus Pseudocamptodactyly Syndrome: A Sporadic Cause of Trismus

    OpenAIRE

    Prathima Sreenivasan; Peedikayil, Faizal C; Raj, Sumal V.; Manasa Anand Meundi

    2013-01-01

    Trismus pseudocamptodactyly syndrome is a very rare autosomal dominant inherited disorder characterized by the inability to completely open the mouth (trismus) and the presence of abnormally short tendon units causing the fingers to curve (camptodactyly). Early diagnosis and management of this condition is important to prevent facial deformities in the patient. Reporting such a case is important as case reports are one of the sources of data for calculating the prevalence of rare diseases. He...

  18. The Irukandji syndrome. A devastating syndrome caused by a north Australian jellyfish.

    Science.gov (United States)

    Fenner, P; Carney, I

    1999-11-01

    The Irukandji syndrome is a group of delayed (10-40 mins, mean 30 mins) severe systemic symptoms occurring after an initial mild skin sting by small carybdeid (box) jellyfish including Carukia barnesi, known colloquially as the 'Irukandji'. Although the syndrome is well known in tropical Australian waters, the 1998-1999 season in north Queensland was notable for the unusually high number of victims with severe toxic heart failure who needed admission to intensive care facilities for more complex investigations and treatment. There have also been other severe and unusual symptoms reported this year, which leads to the conclusion that there may be more than one species of jellyfish causing the Irukandji syndrome, or a seasonal variation in the symptoms and/or severity of symptoms caused by Carukia spp. This article describes the updated current state of information on the ecology of jellyfish causing the Irukandji syndrome, introduces the new symptoms, and discusses some treatment regimens that may be effective. Problems associated with inappropriate treatment are also discussed. To date there have been no reported deaths from Irukandji envenomation but there have been a number of patients who were probably only saved by high quality intensive care treatment. Research into the cause and treatment of this potentially devastating syndrome is hampered by lack of funding, although there are large costs to the taxpayers for retrieval and medical treatment of victims. These costs are analysed and presented.

  19. Past and current cause-specific mortality in Eisenmenger syndrome

    DEFF Research Database (Denmark)

    Hjortshøj, Cristel M Sørensen; Kempny, Aleksander; Jensen, Annette Schophuus

    2017-01-01

    Aims: Eisenmenger syndrome (ES) is associated with considerable morbidity and mortality. Therapeutic strategies have changed during the 2000s in conjunction with an emphasis on specialist follow-up. The aim of this study was to determine the cause-specific mortality in ES and evaluate any relevant....... Over a median follow-up of 6.1 years (interquartile range 2.1-21.5 years) 558 deaths were recorded; cause-specific mortality was identified in 411 (74%) cases. Leading causes of death were heart failure (34%), infection (26%), sudden cardiac death (10%), thromboembolism (8%), haemorrhage (7%), and peri...... changes between 1977 and 2015. Methods and results: This is a retrospective, descriptive multicentre study. A total of 1546 patients (mean age 38.7 ± 15.4 years; 36% male) from 13 countries were included. Cause-specific mortality was examined before and after July 2006, 'early' and 'late', respectively...

  20. Mutations in CDK5RAP2 cause Seckel syndrome.

    Science.gov (United States)

    Yigit, Gökhan; Brown, Karen E; Kayserili, Hülya; Pohl, Esther; Caliebe, Almuth; Zahnleiter, Diana; Rosser, Elisabeth; Bögershausen, Nina; Uyguner, Zehra Oya; Altunoglu, Umut; Nürnberg, Gudrun; Nürnberg, Peter; Rauch, Anita; Li, Yun; Thiel, Christian Thomas; Wollnik, Bernd

    2015-09-01

    Seckel syndrome is a heterogeneous, autosomal recessive disorder marked by prenatal proportionate short stature, severe microcephaly, intellectual disability, and characteristic facial features. Here, we describe the novel homozygous splice-site mutations c.383+1G>C and c.4005-9A>G in CDK5RAP2 in two consanguineous families with Seckel syndrome. CDK5RAP2 (CEP215) encodes a centrosomal protein which is known to be essential for centrosomal cohesion and proper spindle formation and has been shown to be causally involved in autosomal recessive primary microcephaly. We establish CDK5RAP2 as a disease-causing gene for Seckel syndrome and show that loss of functional CDK5RAP2 leads to severe defects in mitosis and spindle organization, resulting in cells with abnormal nuclei and centrosomal pattern, which underlines the important role of centrosomal and mitotic proteins in the pathogenesis of the disease. Additionally, we present an intriguing case of possible digenic inheritance in Seckel syndrome: A severely affected child of nonconsanguineous German parents was found to carry heterozygous mutations in CDK5RAP2 and CEP152. This finding points toward a potential additive genetic effect of mutations in CDK5RAP2 and CEP152.

  1. Frontal mucocele with intracranial extension causing frontal lobe syndrome.

    Science.gov (United States)

    Weidmayer, Sara

    2015-06-01

    Mucoceles are mucus-containing cysts that form in paranasal sinuses; although mucoceles themselves are benign, this case report highlights the extensive damage they can cause as their expansion may lead to bony erosion and extension of the mucocele into the orbit and cranium; it also presents a rarely reported instance of frontal sinus mucocele leading to frontal lobe syndrome. A thorough discussion and review of mucoceles is included. A 68-year-old white man presented with intermittent diplopia and a pressure sensation in the right eye. He had a history of chronic sinusitis and had had endoscopic sinus surgery 5 years prior. A maxillofacial computed tomography scan revealed a large right frontal sinus mucocele, which had caused erosion along the medial wall of the right orbit and the outer and inner tables of the right frontal sinus. The mucocele had protruded both into the right orbit and intracranially, causing mass effect on the frontal lobe, which led to frontal lobe syndrome. The patient was successfully treated with endoscopic right ethmoidectomy, radial frontal sinusotomy, marsupialization of the mucocele, and transcutaneous irrigation. Paranasal sinus mucoceles may expand and lead to bony erosion and can become very invasive in surrounding structures such as the orbit and cranium. This case not only exhibits a very rare presentation of frontal sinus mucocele with intracranial extension and frontal lobe mass effect causing a frontal lobe syndrome but also demonstrates many of the ocular and visual complications commonly associated with paranasal sinus mucoceles. Early identification and surgical intervention is vital for preventing and reducing morbidity associated with invasive mucoceles, and the patient must be followed regularly to monitor for recurrence.

  2. Stress reactions in organizations: syndromes, causes and consequences.

    Science.gov (United States)

    Zaleznik, A; Kets de Vries, F R; Howard, J

    1977-05-01

    This study examines the prevalence, causes, and consequences of stress reactions among over 2000 high status members of a large organization in Canada. Five stress syndromes were identified: emotional distress, medication use, cardiovascular disturbance, gastrointestinal disturbance, and allergy respiratory disturbance. The study demonstrates the effects of sociocultural variables on selected stress responses to compare typical symptoms of French vs. English Canadians, and in demographic variables such as age and sex as reflections of stages in the life cycle. Once the sociocultural and demographic effects were isolated, the study revealed a major occupational effect in the distribution of stress syndromes. Managers compared with staff and operations people show a low prevalence of stress reactions. The explanation of this finding led to the evaluation of four possible causes: the maturity effect, the vulnerability effect, the bureaucratic effect, and the power effect. The first two causes assume the objective stressors in the environment are about the same for all occupational groups in the study and the variations in symptoms result from major personality factors held in common among the occupational groups. The second two causes assume that the variations in symptoms result from major differences in the environments of the three occupational groups. Analysis suggests that psychodynamic factors affect the tolerance for stress and the choice of syndrome. The environment, particularly the frustrations and deprivations associated with bureaucracy and the lack of power, activates the defenses against anger and rage that in turn lead to symptom formation. The study concludes with the paradox of the bureaucratic experience. Designed to minimize the uses of power in negotiating work procedures and relationships, bureaucracy requires the mobilization and uses of power to, at a minimum, reduce the risks of falling ill from frustration and anger and, at a maximum, to sense

  3. Oral disease in children with Down syndrome: causes and prevention.

    Science.gov (United States)

    Shore, Sarah; Lightfoot, Tracy; Ansell, Pat

    2010-02-01

    While healthcare professionals may be familiar with the social and medical management of Down syndrome, dental issues have traditionally been somewhat neglected and are important causes of morbidity. The aims of this review are two-fold. Firstly, to draw attention to the environmental and host factors associated with periodontal disease and dental caries (tooth decay) in children with Down syndrome. Secondly, to highlight key yet largely modifiable risk factors in the causation and progression of these chronic oral conditions, many of which also apply to other children with learning disabilities. The review focuses on the role of community and school-based healthcare professionals in promoting good oral health using evidence-based preventative strategies, and in encouraging early, regular contact with dental services.

  4. Terson syndrome caused by intraventricular hemorrhage associated with moyamoya disease.

    Science.gov (United States)

    Kim, Ho Sang; Lee, Sang Weon; Sung, Soon Ki; Seo, Eui Kyo

    2012-06-01

    Terson syndrome was originally used to describe a vitreous hemorrhage arising from aneurysmal subrarachnoid hemorrhage. Terson syndrome can be caused by intracranial hemorrhage, subdural or epidural hematoma and severe brain injury but is extremely rare in intraventricular hemorrhage associated with moyamoya disease. A 41-year-old man presented with left visual disturbance. He had a history of intraventicular hemorrhage associated with moyamoya disease three months prior to admission. At that time he was in comatose mentality. Ophthalmologic examination at our hospital detected a vitreous hemorrhage in his left eye, with right eye remaining normal. Vitrectomy with epiretinal membrane removal was performed. After operation his left visual acuity was recovered. Careful ophthalmologic examination is mandatory in patients with hemorrhagic moyamoya disease.

  5. Alcohol-induced Cushing syndrome. Hypercortisolism caused by alcohol abuse.

    Science.gov (United States)

    Besemer, F; Pereira, A M; Smit, J W A

    2011-01-01

    Cushing's syndrome (CS), a rare syndrome caused by overexposure to glucocorticoids, is difficult to diagnose. The underlying causes of CS include pituitary and ectopic adrenocorticotropic hormone (ACTH) producing tumours and adrenal adenomas or hyperplasia. Alcoholism, however, can cause similar symptoms, giving rise to a so-called pseudo-Cushing state, which aggravates the differential diagnostic dilemmas of CS. To document any specific clinical or biochemical features of alcohol-induced CS. A Medline computer-aided search was performed to identify studies that have attempted to differentiate between alcohol-induced pseudo-Cushing and CS. Only original articles, not reviews, written in English were included. A total of 62 articles were included. Clinical and biochemical abnormalities mimicking increased hypothalamus-pituitary-adrenal (HPA) axis activity were found in the majority of the patients, although the severity of the changes varied widely. The most frequently occurring abnormalities were: insufficient suppression after low-dose dexamethasone or increased 24-hour urinary free cortisol (UFC). After alcohol withdrawal, cortisol decreased and dexamethasone-induced suppression of cortisol increased. No differences were noted between alcoholic and control subjects after an ACTH stimulation test, insulin tolerance test or metyrapone test. Differences were found after a naloxone test and hexarelin test. Studies using corticotropin-releasing hormone stimulation and tests after ethanol ingestion revealed inconclusive results. There is no clear definition for the alcohol-induced pseudo-Cushing state, and hitherto studies fail to provide clues to differentiate between pseudo-Cushing and Cushing's syndrome. Only cessation of alcohol can normalise biochemical abnormalities and regress hypercortisolic symptoms.

  6. [Long QT syndrome. History, genetics, clinical symptoms, causes and therapy].

    Science.gov (United States)

    Krönauer, T; Friederich, P

    2015-08-01

    The long QT syndrome is caused by a change in cardiac repolarization due to functional ion channel defects. A differentiation is made between a congenital (cLQTS) and an acquired (aLQTS) form of the disease. The disease results in the name-giving prolongation of the QT interval in the electrocardiogram and represents a predisposition for cardiac arrhythmia and sudden cardiac death. This article summarizes the current knowledge on the history, pathophysiology, clinical symptoms and therapy of cLQTS and aLQTS. This knowledge of pathophysiological features of the symptoms allows the underlying anesthesiological approach for individualized perioperative concepts for patients suffering from LQTS to be derived.

  7. Proteus syndrome: A rare cause of gigantic limb

    Directory of Open Access Journals (Sweden)

    Nandini Chakrabarti

    2014-01-01

    Full Text Available A congenital disorder with variable manifestations, including partial gigantism of the hands and feet with hypertrophy of soles, nevi, hemihypertrophy, gynecomastia, macrocephaly and other skull abnormalities, and abdominal lipomatosis. The cause is unknown, although a genetic origin, generally of autosomal-dominant transmission, has been conjectured. Symptoms can be treated, but there is no known cure. We present the case of a young male with grotesque overgrowth of the right lower limb, splenomegaly and multiple nevi. Angiography revealed venous malformation within the limb. The findings are in conformity to the criteria for the Proteus syndrome.

  8. Subacromial impingement syndrome caused by a voluminous subdeltoid lipoma.

    Science.gov (United States)

    Murray, Jean-Christophe; Pelet, Stéphane

    2014-01-01

    Subacromial impingement syndrome is a clinical diagnosis encompassing a spectrum of possible etiologies, including subacromial bursitis, rotator cuff tendinopathy, and partial- to full-thickness rotator cuff tears. This report presents an unusual case of subdeltoid lipoma causing extrinsic compression and subacromial impingement syndrome. The patient, a 60-year-old man, presented to our institution with a few years' history of nontraumatic, posteriorly localized throbbing pain in his right shoulder. Despite a well-followed 6-months physiotherapy program, the patient was still suffering from his right shoulder. The MRI scan revealed a well-circumscribed 6 cm × 2 cm × 5 cm homogenous lesion compatible with a subdeltoid intermuscular lipoma. The mass was excised en bloc, and subsequent histopathologic examination confirmed a benign lipoma. At 6-months follow-up, the patient was asymptomatic with a complete return to his activities. Based on this case and a review of the literature, a subacromial lipoma has to be included in the differential diagnosis of a subacromial impingement syndrome refractory to nonoperative treatment. Complementary imaging modalities are required only after a failed conservative management to assess the exact etiology and successfully direct the surgical treatment.

  9. Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome

    Science.gov (United States)

    McLarren, Keith W.; Severson, Tesa M.; du Souich, Christèle; Stockton, David W.; Kratz, Lisa E.; Cunningham, David; Hendson, Glenda; Morin, Ryan D.; Wu, Diane; Paul, Jessica E.; An, Jianghong; Nelson, Tanya N.; Chou, Athena; DeBarber, Andrea E.; Merkens, Louise S.; Michaud, Jacques L.; Waters, Paula J.; Yin, Jingyi; McGillivray, Barbara; Demos, Michelle; Rouleau, Guy A.; Grzeschik, Karl-Heinz; Smith, Raffaella; Tarpey, Patrick S.; Shears, Debbie; Schwartz, Charles E.; Gecz, Jozef; Stratton, Michael R.; Arbour, Laura; Hurlburt, Jane; Van Allen, Margot I.; Herman, Gail E.; Zhao, Yongjun; Moore, Richard; Kelley, Richard I.; Jones, Steven J.M.; Steiner, Robert D.; Raymond, F. Lucy; Marra, Marco A.; Boerkoel, Cornelius F.

    2010-01-01

    CK syndrome (CKS) is an X-linked recessive intellectual disability syndrome characterized by dysmorphism, cortical brain malformations, and an asthenic build. Through an X chromosome single-nucleotide variant scan in the first reported family, we identified linkage to a 5 Mb region on Xq28. Sequencing of this region detected a segregating 3 bp deletion (c.696_698del [p.Lys232del]) in exon 7 of NAD(P) dependent steroid dehydrogenase-like (NSDHL), a gene that encodes an enzyme in the cholesterol biosynthesis pathway. We also found that males with intellectual disability in another reported family with an NSDHL mutation (c.1098 dup [p.Arg367SerfsX33]) have CKS. These two mutations, which alter protein folding, show temperature-sensitive protein stability and complementation in Erg26-deficient yeast. As described for the allelic disorder CHILD syndrome, cells and cerebrospinal fluid from CKS patients have increased methyl sterol levels. We hypothesize that methyl sterol accumulation, not only cholesterol deficiency, causes CKS, given that cerebrospinal fluid cholesterol, plasma cholesterol, and plasma 24S-hydroxycholesterol levels are normal in males with CKS. In summary, CKS expands the spectrum of cholesterol-related disorders and insight into the role of cholesterol in human development. PMID:21129721

  10. Subacromial Impingement Syndrome Caused by a Voluminous Subdeltoid Lipoma

    Directory of Open Access Journals (Sweden)

    Jean-Christophe Murray

    2014-01-01

    Full Text Available Subacromial impingement syndrome is a clinical diagnosis encompassing a spectrum of possible etiologies, including subacromial bursitis, rotator cuff tendinopathy, and partial- to full-thickness rotator cuff tears. This report presents an unusual case of subdeltoid lipoma causing extrinsic compression and subacromial impingement syndrome. The patient, a 60-year-old man, presented to our institution with a few years' history of nontraumatic, posteriorly localized throbbing pain in his right shoulder. Despite a well-followed 6-months physiotherapy program, the patient was still suffering from his right shoulder. The MRI scan revealed a well-circumscribed 6 cm × 2 cm × 5 cm homogenous lesion compatible with a subdeltoid intermuscular lipoma. The mass was excised en bloc, and subsequent histopathologic examination confirmed a benign lipoma. At 6-months follow-up, the patient was asymptomatic with a complete return to his activities. Based on this case and a review of the literature, a subacromial lipoma has to be included in the differential diagnosis of a subacromial impingement syndrome refractory to nonoperative treatment. Complementary imaging modalities are required only after a failed conservative management to assess the exact etiology and successfully direct the surgical treatment.

  11. CtIP Mutations Cause Seckel and Jawad Syndromes.

    Directory of Open Access Journals (Sweden)

    Per Qvist

    2011-10-01

    Full Text Available Seckel syndrome is a recessively inherited dwarfism disorder characterized by microcephaly and a unique head profile. Genetically, it constitutes a heterogeneous condition, with several loci mapped (SCKL1-5 but only three disease genes identified: the ATR, CENPJ, and CEP152 genes that control cellular responses to DNA damage. We previously mapped a Seckel syndrome locus to chromosome 18p11.31-q11.2 (SCKL2. Here, we report two mutations in the CtIP (RBBP8 gene within this locus that result in expression of C-terminally truncated forms of CtIP. We propose that these mutations are the molecular cause of the disease observed in the previously described SCKL2 family and in an additional unrelated family diagnosed with a similar form of congenital microcephaly termed Jawad syndrome. While an exonic frameshift mutation was found in the Jawad family, the SCKL2 family carries a splicing mutation that yields a dominant-negative form of CtIP. Further characterization of cell lines derived from the SCKL2 family revealed defective DNA damage induced formation of single-stranded DNA, a critical co-factor for ATR activation. Accordingly, SCKL2 cells present a lowered apoptopic threshold and hypersensitivity to DNA damage. Notably, over-expression of a comparable truncated CtIP variant in non-Seckel cells recapitulates SCKL2 cellular phenotypes in a dose-dependent manner. This work thus identifies CtIP as a disease gene for Seckel and Jawad syndromes and defines a new type of genetic disease mechanism in which a dominant negative mutation yields a recessively inherited disorder.

  12. Intracranial Hemorrhage Revealing Pseudohypoparathyroidism as a Cause of Fahr Syndrome

    Directory of Open Access Journals (Sweden)

    Abhijit Swami

    2011-01-01

    Full Text Available Pseudohypoparathyroidism is an infrequently encountered disease. It is one of the causes of Fahr syndrome which also is a rare clinical entity caused by multiple diseases. A 4-year-old man hospitalized for sudden onset left hemiparesis and hypertension was diagnosed to have right thalamic and midbrain hemorrhage on plain CT scan of the head which also revealed co-existent extensive intracranial calcifications involving the basal ganglia and cerebellum bilaterally. General physical examination revealed features of Albright hereditary osteodystrophy, goitre, hypertension, left hemiparesis, and signs of cerebellar dysfunction. Laboratory findings suggested hypocalcemia, hyperphosphatemia along with high TSH, low FT4, low FT3, and high anti-TPO antibody. Though bilateral intracranial calcifications are usually encountered as an incidental radiological finding in the CT scan of brain, in this case, the patient admitted for thalamic and midbrain hemorrhage was on investigation for associated intracranial calcification, and goitre was also found to have coexisting pseudohypoparathyroidism and autoimmune hypothyroidism.

  13. Main causes of hospitalization in people with Angelman syndrome.

    Science.gov (United States)

    Domínguez-Berjón, M Felícitas; Zoni, Ana Clara; Esteban-Vasallo, María D; Sendra-Gutiérrez, Juan Manuel; Astray-Mochales, Jenaro

    2017-09-04

    The objective was to describe the main causes of hospitalization in people with Angelman syndrome (AS). Population-based cross-sectional study in the Community of Madrid (CM), Spain. The information source for AS cases was the information system for rare diseases in the CM. Variables related to hospitalization, for the period 2006-2014, were the following: number of episodes, outcome, main cause, length of stay and type of admission. Main causes of hospitalization were described by age group and sex. The most frequent causes of hospitalization were the following: oral-dental care (28.9%), seizures (19.6%), orthopaedic problems (14.4%) and acute respiratory disorders (12.4%). The percentage of hospitalizations was higher for oral-dental care in women and for orthopaedic problems in men (p-value <.05). Hospitalizations for an acute respiratory disorder were higher in adults (p-value <.05). Some differences in the causes of hospitalization of people with AS were observed by sex and age. © 2017 John Wiley & Sons Ltd.

  14. Munchausen syndrome: a novel cause of drug-resistant hypertension.

    Science.gov (United States)

    Pessina, Achille C; Bisogni, Valeria; Fassina, Ambrogio; Rossi, Gian Paolo

    2013-07-01

    A young patient presented with a history of resistant arterial hypertension, associated with disabling symptoms. He was subjected to an enormous number of tests to identify a pheochromocytoma that was never found. He was eventually discovered to make factitious use of amphetamine to mimic this condition in order to gain medical attention. Munchausen syndrome was thus diagnosed. The patient was discharged and was lost to follow-up until he presented again in 2012 for 'resistant hypertension' in our outpatient clinic. He reported that because of poor blood pressure, he had been referred to a Cardiology department where transcatheter renal denervation was performed with no effect on blood pressure. Thereafter, he was presented to an Endocrinology unit where a left adrenalectomy was performed with diagnosis of pheochromocytoma that was not found at pathology. Munchausen syndrome is a rare psychiatric condition that leads affected patients to cause intentionally signs and symptoms of an illness or injury by inflicting medical harm to their body to attract the attention of the physician and get admission to the hospital. To our knowledge, this is the first case of causing drug-resistant hypertension and leading to unnecessary renal denervation and adrenalectomy.

  15. Acute Interstitial Pneumonia (Hamman-Rich Syndrome as a Cause of Idiopathic Acute Respiratory Distress Syndrome

    Directory of Open Access Journals (Sweden)

    Jackrapong Bruminhent

    2011-01-01

    Full Text Available Hamman-Rich syndrome, also known as acute interstitial pneumonia, is a rare and fulminant form of idiopathic interstitial lung disease. It should be considered as a cause of idiopathic acute respiratory distress syndrome. Confirmatory diagnosis requires demonstration of diffuse alveolar damage on lung histopathology. The main treatment is supportive care. It is not clear if glucocorticoid therapy is effective in acute interstitial pneumonia. We report the case of a 77-year-old woman without pre-existing lung disease who initially presented with mild upper respiratory tract infection and then progressed to rapid onset of hypoxic respiratory failure similar to acute respiratory distress syndrome with unknown etiology. Despite glucocorticoid therapy, she did not achieve remission and expired after 35 days of hospitalization. The diagnosis of acute interstitial pneumonia was supported by the histopathologic findings on her lung biopsy.

  16. Coracoid syndrome: a neglected cause of anterior shoulder pain.

    Science.gov (United States)

    Gigante, Antonio; Bottegoni, Carlo; Barbadoro, Pamela

    2016-01-01

    the present prospective open-label study was designed to gain further insights into a condition thought to constitute a neglected but not uncommon syndrome characterized by anterior shoulder pain and tenderness to palpation over the apex of the coracoid process, not related to rotator cuff or pectoralis minor tendinopathy, long head of the biceps tendon disorders, or instability. The aim was to clarify its prevalence, clinical characteristics, differential diagnosis and response to corticosteroid injections. patients with primary anterior shoulder pain precisely reproduced by deep pressure on the apex of the coracoid process were recruited. Patients with clinical or instrumental signs of other shoulder disorders were excluded. Patients were given an injection of triamcinolone acetonide 40 mg/ml 1 ml at the coracoid trigger point. They were evaluated after 15, 30 and 60 days and at 2 years using Equal Visual Analog Scale (EQ-VAS) and the Italian version of the Simple Shoulder Test (SST). between January 1 and December 31 2010, we treated 15 patients aged 26-66 years. The majority were women (86.67%). At 15 days, 6 (40%) patients reported complete resolution of their symptoms, while 9 (60%) complained of residual symptoms and received another injection. At 30 days, 14 (93.33%) patients were pain-free and very satisfied. At 2 years, the 14 patients who had been asymptomatic at 30 days reported that they had experienced no further pain or impaired shoulder function. The analysis of variance for repeated measures showed a significant effect of time on EQ-VAS and SST scores. the present study documents the existence, and characteristics, of a "coracoid syndrome" characterized by anterior shoulder pain and tenderness to palpation over the apex of the coracoid process and showed that the pain is usually amenable to steroid treatment. This syndrome should be clearly distinguished from anterior shoulder pain due to other causes, in order to avoid inappropriate conservative

  17. Vascular manifestations of Behcet's disease

    Directory of Open Access Journals (Sweden)

    Regina Georgiyeva Goloeva

    2010-01-01

    Conclusion. Vascular disorders in BD were diagnosed in one fourth of the patients, mainly in young male patients. Severe thromboses with the development of chronic venous insignificance, Budd-Chiari syndrome, pulmonary and iliac artery aneurysms, and arterial thromboses were observed in male patients only. Vascular events were associated with erythema nodosum and epididymitis; in these concomitances, the vascular risk was substantially increased. Vascular death rates were 2,2%.

  18. The three-dimensional reconstruction and visualization of direct intrahepatic portacaval shunt

    OpenAIRE

    Hao Du; Kai Li

    2016-01-01

    Objective: Transjugular intrahepatic portacaval shunt (TIPS) is a traditional and effective treatment for variceal bleeding in cirrhotic patients with portal hypertension. However, in patients with a Budd-Chiari syndrome or other unaccessible hepatic veins, a direct puncture through the inferior caval vein may be inevitable. Direct intrahepatic portacaval shunt (DIPS) also has several advantages compared with TIPS. So we are expected to explore a digitalized model of DIPS and find the suitabl...

  19. Discovery of a Genetic Metabolic Cause for Mauriac Syndrome in Type 1 Diabetes

    National Research Council Canada - National Science Library

    MacDonald, Michael J; Hasan, Noaman M; Ansari, Israr-Ul H; Longacre, Melissa J; Kendrick, Mindy A; Stoker, Scott W

    2016-01-01

    A mechanistic cause for Mauriac syndrome, a syndrome of growth failure and delayed puberty associated with massive liver enlargement from glycogen deposition in children with poorly controlled type 1...

  20. GNB3 overexpression causes obesity and metabolic syndrome.

    Science.gov (United States)

    Ozdemir, Alev Cagla; Wynn, Grace M; Vester, Aimee; Weitzmann, M Neale; Neigh, Gretchen N; Srinivasan, Shanthi; Rudd, M Katharine

    2017-01-01

    The G-protein beta subunit 3 (GNB3) gene has been implicated in obesity risk; however, the molecular mechanism of GNB3-related disease is unknown. GNB3 duplication is responsible for a syndromic form of childhood obesity, and an activating DNA sequence variant (C825T) in GNB3 is also associated with obesity. To test the hypothesis that GNB3 overexpression causes obesity, we created bacterial artificial chromosome (BAC) transgenic mice that carry an extra copy of the human GNB3 risk allele. Here we show that GNB3-T/+ mice have increased adiposity, but not greater food intake or a defect in satiety. GNB3-T/+ mice have elevated fasting plasma glucose, insulin, and C-peptide, as well as glucose intolerance, indicating type 2 diabetes. Fasting plasma leptin, triglycerides, cholesterol and phospholipids are elevated, suggesting metabolic syndrome. Based on a battery of behavioral tests, GNB3-T/+ mice did not exhibit anxiety- or depressive-like phenotypes. GNB3-T/+ and wild-type animals have similar activity levels and heat production; however, GNB3-T/+ mice exhibit dysregulation of acute thermogenesis. Finally, Ucp1 expression is significantly lower in white adipose tissue (WAT) in GNB3-T/+ mice, suggestive of WAT remodeling that could lead to impaired cellular thermogenesis. Taken together, our study provides the first functional link between GNB3 and obesity, and presents insight into novel pathways that could be applied to combat obesity and type 2 diabetes.

  1. [Mounier-Kuhn syndrome - a rare cause of recurrent bronchitis].

    Science.gov (United States)

    Bayer, M; Sladovnik, P; Herzog, R; Kern, L

    2014-04-01

    A 43-year-old man presented at our emergency room with progressive dyspnea and productive cough. He was in moderate respiratory distress. Symptomatic treatment had so far not led to clinical improvement. He had suffered from similar episodes since adolescence. An intensive diagnostic investigation was started to evaluate the source of infection and dyspnea. CRP levels were elevated to 26 mg/l. Arterial blood gas analysis showed a moderate hypoxemia with a pO2 of 8.35kPa (63 mmHg) and a pCO2 of 3.84kPa (29 mmHg). Computed tomography of the chest revealed the diagnosis of trachebobronchomegaly. This rare cause of recurrent bronchitis is named after Mounier-Kuhn who established this diagnosis for the first time. The patient improved under a course with antibiotics and inhaled bronchodilators. In patients with recurrent bronchitis, an underlying disease of the tracheobronchial system has to be suspected. The Mounier-Kuhn syndrome is only rarely diagnosed because the diagnosis cannot be established by conventional chest x-ray. Computed tomography is the gold standard for diagnosis. Mounier-Kuhn syndrome is likely to lead to severe venilatory failure and death, if untreated. © Georg Thieme Verlag KG Stuttgart · New York.

  2. Ortner’s syndrome: Cardiovocal syndrome caused by aortic arch ps

    Directory of Open Access Journals (Sweden)

    Adil H. Al Kindi

    2016-10-01

    Ortner’s syndrome describes vocal changes caused by cardiovascular pathology. It should be included in the differential diagnosis of patients with cardiovascular risk factors presenting with hoarseness. This case demonstrates the use of endovascular stents to treat the causative pathology with resolution of symptoms. In expert hands, it represents low risk, minimally invasive therapeutic strategy with excellent early results in patients who are high risk for open procedure.

  3. The cubital tunnel syndrome caused by the two synovial cysts.

    Science.gov (United States)

    Li, YongPing; Lao, Jie

    2012-06-01

    The cubital tunnel syndrome caused by several synovial cysts has been rarely reported. In our case, a 63-year-old man had sensorial and motor complaints at the ring and little fingers of the right hand. The claw deformity and the atrophy of the hypothenar and interosseous muscles in the right hand were discovered on physical examination. Froment's sign was positive. Electromyography showed prolonged distal latencies and slowed conduction for ulnar nerve. A small spherical cyst within the cubital tunnel and another spindle-shaped cyst at the distal to the cubital tunnel were found to compress and wrap the ulnar and its branches intra-operatively. Finally, the cysts were removed and the ulnar nerve was decompressed and performed its anterior transposition. Synovial cysts were confirmed by histopathological examination. Copyright © 2011 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  4. A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome

    Directory of Open Access Journals (Sweden)

    Maryam Taghdiri

    2017-08-01

    Full Text Available Cockayne syndrome (CS is a rare autosomal recessive multisystem disorder characterized by impaired neurological and sensory functions, cachectic dwarfism, microcephaly, and photosensitivity. This syndrome shows a variable age of onset and rate of progression, and its phenotypic spectrum include a wide range of severity. Due to the progressive nature of this disorder, diagnosis can be more important when additional signs and symptoms appear gradually and become steadily worse over time. Therefore, mutation analysis of genes involved in CS pathogenesis can be helpful to confirm the suspected clinical diagnosis. Here, we report a novel mutation in ERCC8 gene in a 16-year-old boy who suffers from poor weight gain, short stature, microcephaly, intellectual disability, and photosensitivity. The patient was born to consanguineous family with no previous documented disease in his parents. To identify disease-causing mutation in the patient, whole exome sequencing utilizing next-generation sequencing on an Illumina HiSeq 2000 platform was performed. Results revealed a novel homozygote mutation in ERCC8 gene (NM_000082: exon 11, c.1122G>C in our patient. Another gene (ERCC6, which is also involved in CS did not have any disease-causing mutations in the proband. The new identified mutation was then confirmed by Sanger sequencing in the proband, his parents, and extended family members, confirming co-segregation with the disease. In addition, different bioinformatics programs which included MutationTaster, I-Mutant v2.0, NNSplice, Combined Annotation Dependent Depletion, The PhastCons, Genomic Evolutationary Rate Profiling conservation score, and T-Coffee Multiple Sequence Alignment predicted the pathogenicity of the mutation. Our study identified a rare novel mutation in ERCC8 gene and help to provide accurate genetic counseling and prenatal diagnosis to minimize new affected individuals in this family.

  5. The medial tibial stress syndrome. A cause of shin splints.

    Science.gov (United States)

    Mubarak, S J; Gould, R N; Lee, Y F; Schmidt, D A; Hargens, A R

    1982-01-01

    The medial tibial stress syndrome is a symptom complex seen in athletes who complain of exercise-induced pain along the distal posterior-medial aspect of the tibia. Intramuscular pressures within the posterior compartments of the leg were measured in 12 patients with this disorder. These pressures were not elevated and therefore this syndrome is a not a compartment syndrome. Available information suggests that the medial tibial stress syndrome most likely represents a periostitis at this location of the leg.

  6. A rare cause of acromegaly: McCune-Albright syndrome

    Directory of Open Access Journals (Sweden)

    Erdal Bodakçi

    2015-06-01

    Full Text Available McCune-Albright syndrome is characterized by polyostatic fibrous dysplasia, brown spots on the skin (café au lait pigmentation and autonomous endocrine hyperfunction. Early puberty and other endocrinological manifestations, such as acromegaly, gigantism and hypercortisolism are widely observed in the syndrome. Acromegaly is seen in 20% of patients. We report a case of acromegaly accompanied with this syndrome.

  7. Cushing syndrome caused by adrenocortical tumors and hyperplasias (corticotrophin-independent Cushing syndrome)

    Science.gov (United States)

    Stratakis, Constantine A.

    2011-01-01

    Endogenous Cushing syndrome (CS) is caused by excess adrenal glucocorticoid secretion that is adrenocorticotropin (ACTH)-dependent or independent; ACTH-independent adrenocortical causes of CS account for up to 20% of CS in adults, and 15% in children over age 7 years. In younger children, ACTH-independent CS may account for as many as half of CS cases. In both adults and children, adrenocortical lesions causing CS include the common, isolated and sporadic, solitary cortisol-producing adenoma, the rare adrenocortical cancer, and a spectrum of recently recognized, bilateral hyperplasias (bilateral adrenocortical hyperplasias - BAHs): micronodular adrenal disease (MAD) and its pigmented variant, primary pigmented nodular adrenocortical disease (PPNAD) are mostly genetic processes. Macronodular BAHs, ACTH-independent macronodular hyperplasia (AIMAH) or massive macronodular adrenocortical disease (MMAD) are less frequently genetic and almost never present in children (except in McCune-Albright syndrome); they present often with atypical CS in middle-aged or elderly adults. The majority of benign adrenocortical tumors associated with CS are associated with defects of the cyclic AMP signaling pathway, whereas adrenal cancer is linked to aberrant expression of growth factors and germline or somatic mutations of tumor suppressor genes such as TP53. Adrenalectomy is the preferred mode of treatment for all adrenocortical causes of CS. PMID:18493137

  8. Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

    NARCIS (Netherlands)

    Ockeloen, Charlotte W.; Willemsen, Marjolein H.; De Munnik, Sonja; Van Bon, Bregje W M; De Leeuw, Nicole; Verrips, Aad; Kant, Sarina G.; Jones, Elizabeth A.; Brunner, Han G.; Van Loon, Rosa L E; Smeets, Eric E J; Van Haelst, Mieke M.; Van Haaften, Gijs; Nordgren, Ann; Malmgren, Helena; Grigelioniene, Giedre; Vermeer, Sascha; Louro, Pedro; Ramos, Lina; Maal, Thomas J J; Van Heumen, Celeste C.; Yntema, Helger G.; Carels, Carine E L; Kleefstra, Tjitske

    2015-01-01

    Loss-of-function variants in ANKRD11 were identified as the cause of KBG syndrome, an autosomal dominant syndrome with specific dental, neurobehavioural, craniofacial and skeletal anomalies. We present the largest cohort of KBG syndrome cases confirmed by ANKRD11 variants reported so far, consisting

  9. Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

    NARCIS (Netherlands)

    C. Ockeloen (Charlotte); M.H. Willemsen; S. de Munnik (Sonja); B. van Bon (Bregje); N. de Leeuw (Nicole); A. Verrips (Aad); S.G. Kant (Sarina); E.A. Jones (Elizabeth A.); H.G. Brunner; R.L.E. Van Loon (Rosa); E.E.J. Smeets (Eric E.J.); M.M. van Haelst (Mieke); G. van Haaften (Gijs); A. Nordgren (Ann); H. Malmgren (Helena); G. Grigelioniene (Giedre); S.E. Vermeer (Sarah); P. Louro (Pedro); L. Ramos (Lina); T.J.J. Maal (Thomas J.J.); C.C.M. van Heumen (Céleste); H.G. Yntema; C.E.L. Carels (Carine); T. Kleefstra (Tjitske)

    2015-01-01

    textabstractLoss-of-function variants in ANKRD11 were identified as the cause of KBG syndrome, an autosomal dominant syndrome with specific dental, neurobehavioural, craniofacial and skeletal anomalies. We present the largest cohort of KBG syndrome cases confirmed by ANKRD11 variants reported so

  10. Milk alkali syndrome—an unusual syndrome causing an unusual complication

    OpenAIRE

    George, S.; Clark, J.

    2000-01-01

    Milk alkali syndrome is rare and although pancreatitis secondary to hypercalcaemia is well recognised, there has only been one other reported case of pancreatitis secondary to the milk alkali syndrome. Such a case, caused by self medication of over the counter medication, is reported.


Keywords: milk alkali syndrome; pancreatitis; over the counter medication

  11. Seizure-triggered Takotsubo syndrome rarely causes SUDEP.

    Science.gov (United States)

    Finsterer, Josef; Bersano, Anna

    2015-09-01

    Since almost 20 y it is known that seizures may trigger Takotsubo syndrome (TTS). Since then it has been repeatedly proposed that TTS could be the cause of sudden unexpected death in epilepsy (SUDEP). A review of the so far reported cases of seizure-triggered TTS was carried out to see how often seizure-triggered TTS is fatal. Altogether 59 papers were identified which reported altogether 74 patients with seizure-triggered TTS. Age was reported in 70 patients and ranged from 18 to 82 y. Gender was reported in 70 cases and was female in 60 cases (86%). The type of triggering seizure was reported in 47 cases. In 28 patients (60%) the trigger was a generalized tonic clonic seizure, in 15 cases (32%) a generalized status epilepticus, and in 3 cases a complex partial seizure. The outcome was mentioned in 63 of the 74 patients. Full recovery was reported in 61 cases (97%), incomplete recovery in none of the patients, and a fatal outcome in 2 patients (3%). Fatalities are rare in patients experiencing seizure-triggered TTS. This is why seizure-triggered TTS does not seem to play a major role in the pathogenesis of SUDEP. Copyright © 2015 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  12. Mitochondrial disorder caused Charles Darwin's cyclic vomiting syndrome

    Directory of Open Access Journals (Sweden)

    Finsterer J

    2014-01-01

    Full Text Available Josef Finsterer,1 John Hayman21Krankenanstalt Rudolfstiftng, Vienna, Austria; 2Department of Pathology, University of Melbourne, Victoria, AustraliaBackground: Charles Darwin (CD, “father of modern biology,” suffered from multisystem illness from early adulthood. The most disabling manifestation was cyclic vomiting syndrome (CVS. This study aims at finding the possible cause of CVS in CD.Methods: A literature search using the PubMed database was carried out, and CD's complaints, as reported in his personal writings and those of his relatives, friends, colleagues, biographers, were compared with various manifestations of mitochondrial disorders (MIDs, known to cause CVS, described in the literature.Results: Organ tissues involved in CD's disease were brain, nerves, muscles, vestibular apparatus, heart, gut, and skin. Cerebral manifestations included episodic headache, visual disturbance, episodic memory loss, periodic paralysis, hysterical crying, panic attacks, and episodes of depression. Manifestations of polyneuropathy included numbness, paresthesias, increased sweating, temperature sensitivity, and arterial hypotension. Muscular manifestations included periods of exhaustion, easy fatigability, myalgia, and muscle twitching. Cardiac manifestations included episodes of palpitations and chest pain. Gastrointestinal manifestations were CVS, dental problems, abnormal seasickness, eructation, belching, and flatulence. Dermatological manifestations included painful lips, dermatitis, eczema, and facial edema. Treatments with beneficial effects to his complaints were rest, relaxation, heat, and hydrotherapy.Conclusion: CVS in CD was most likely due to a multisystem, nonsyndromic MID. This diagnosis is based upon the multisystem nature of his disease, the fact that CVS is most frequently the manifestation of a MID, the family history, the variable phenotypic expression between affected family members, the fact that symptoms were triggered by stress

  13. Genetic syndromes caused by mutations in epigenetic genes.

    Science.gov (United States)

    Berdasco, María; Esteller, Manel

    2013-04-01

    The orchestrated organization of epigenetic factors that control chromatin dynamism, including DNA methylation, histone marks, non-coding RNAs (ncRNAs) and chromatin-remodeling proteins, is essential for the proper function of tissue homeostasis, cell identity and development. Indeed, deregulation of epigenetic profiles has been described in several human pathologies, including complex diseases (such as cancer, cardiovascular and neurological diseases), metabolic pathologies (type 2 diabetes and obesity) and imprinting disorders. Over the last decade it has become increasingly clear that mutations of genes involved in epigenetic mechanism, such as DNA methyltransferases, methyl-binding domain proteins, histone deacetylases, histone methylases and members of the SWI/SNF family of chromatin remodelers are linked to human disorders, including Immunodeficiency Centromeric instability Facial syndrome 1, Rett syndrome, Rubinstein-Taybi syndrome, Sotos syndrome or alpha-thalassemia/mental retardation X-linked syndrome, among others. As new members of the epigenetic machinery are described, the number of human syndromes associated with epigenetic alterations increases. As recent examples, mutations of histone demethylases and members of the non-coding RNA machinery have recently been associated with Kabuki syndrome, Claes-Jensen X-linked mental retardation syndrome and Goiter syndrome. In this review, we describe the variety of germline mutations of epigenetic modifiers that are known to be associated with human disorders, and discuss the therapeutic potential of epigenetic drugs as palliative care strategies in the treatment of such disorders.

  14. Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes

    DEFF Research Database (Denmark)

    Duchatelet, Sabine; Ostergaard, Elsebet; Cortes, Dina

    2005-01-01

    Eiken syndrome is a rare autosomal recessive skeletal dysplasia. We identified a truncation mutation in the C-terminal cytoplasmic tail of the parathyroid hormone (PTH)/PTH-related peptide (PTHrP) type 1 receptor (PTHR1) gene as the cause of this syndrome. Eiken syndrome differs from Jansen...... and Blomstrand chondrodysplasia and from enchondromatosis, which are all syndromes caused by PTHR1 mutations. Notably, the skeletal features are opposite to those in Blomstrand chondrodysplasia, which is caused by inactivating recessive mutations in PTHR1. To our knowledge, this is the first description...... of opposite manifestations resulting from distinct recessive mutations in the same gene....

  15. Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM.

    Science.gov (United States)

    Shastri, Vivek M; Schmidt, Kristina H

    2016-01-01

    Bloom syndrome is an autosomal recessive disorder characterized by extraordinary cancer incidence early in life and an average life expectancy of ~27 years. Premature stop codons in BLM, which encodes a DNA helicase that functions in DNA double-strand-break repair, make up the vast majority of Bloom syndrome mutations, with only 13 single amino acid changes identified in the syndrome. Sequencing projects have identified nearly one hundred single nucleotide variants in BLM that cause amino acid changes of uncertain significance. Here, in addition to identifying five BLM variants incapable of complementing certain defects of Bloom syndrome cells, making them candidates for new Bloom syndrome causing mutations, we characterize a new class of BLM variants that cause some, but not all, cellular defects of Bloom syndrome. We find elevated sister-chromatid exchanges, a delayed DNA damage response and inefficient DNA repair. Conversely, hydroxyurea sensitivity and quadriradial chromosome accumulation, both characteristic of Bloom syndrome cells, are absent. These intermediate variants affect sites in BLM that function in ATP hydrolysis and in contacting double-stranded DNA. Allele frequency and cellular defects suggest candidates for new Bloom syndrome causing mutations, and intermediate BLM variants that are hypomorphic which, instead of causing Bloom syndrome, may increase a person's risk for cancer or possibly other Bloom-syndrome-associated disorders, such as type-2 diabetes.

  16. Superior Mesenteric Artery Syndrome: An Uncommon Cause of ...

    African Journals Online (AJOL)

    Superior mesenteric artery (SMA) syndrome was first described in 1861 by Von Rokitansky but remained an unknown entity until 1927 when Wilkie published the first comprehensive series of 75 patients.[1] SMA syndrome is a rare entity characterized by compression of the third portion of the duodenum between the aorta ...

  17. Drowning as a Cause of Death in Angelman Syndrome.

    Science.gov (United States)

    Ishmael, Holly A.; Begleiter, Michael L.; Butler, Merlin G.

    2002-01-01

    This study reports on a 9-year-old boy previously diagnosed with Angelman syndrome who died unexpectedly by drowning in a shallow backyard wading pool. The case illustrates the fascination with water by individuals with Angelman syndrome and highlights that this fascination may lead to death. The need for supervision is stressed. (Contains 5…

  18. Rapunzel Syndrome: a rare cause of acute small bowel obstruction ...

    African Journals Online (AJOL)

    The Rapunzel syndrome is a very rare condition where trichobezoar has extended up to the small bowel. Here we are reporting a rare case of Rapunzel syndrome in an adolescent girl with history of trichophagia who presented with small bowel obstruction. Patient underwent exploratory laparotomy and bezoar was ...

  19. Abernethy syndrome, a rare cause of hypoxemia: A case report

    Directory of Open Access Journals (Sweden)

    Manoj Kumar Sahu

    2015-01-01

    Full Text Available Abernethy syndrome (congenital extrahepatic portosystemic shunt (CEPS II as an etiology of hepatopulmonary syndrome (HPS is uncommon. The severe hypoxemia and its consequences become incapacitating for the patient. Early shunt closure resolves hypoxemia and clinical symptomatology and prevents irreversible changes in pulmonary vasculature.

  20. Lemierre Syndrome Caused by Arcanobacterium haemolyticum Alone in a Healthy Man.

    Science.gov (United States)

    Lee, Kyoung Jin; Kim, Eo Jin; Kang, Seung Ji; Jang, Mi Ok; Jang, Hee-Chang; Jung, Sook In; Shin, Jong Hee; Park, Kyung Hwa

    2012-12-01

    Arcanobacterium haemolyticum was isolated from the blood cultures of a previously healthy 37-year-old man who met all the criteria of Lemierre syndrome, including a primary oropharyngeal infection, evidence of thrombophlebitis of the internal jugular vein, and metastatic infections. To the best of our knowledge, this is the first case of Lemierre syndrome caused by A. haemolyticum in Korea and shows that A. haemolyticum alone can cause Lemierre syndrome.

  1. Raised intracranial pressure in Crouzon syndrome: incidence, causes, and management.

    Science.gov (United States)

    Abu-Sittah, Ghassan S; Jeelani, Owase; Dunaway, David; Hayward, Richard

    2016-04-01

    OBJECT Patients with Crouzon syndrome (CS) are at risk for developing raised intracranial pressure (ICP), which has the potential to impair both vision and neurocognitive development. For this reason, some experts recommend early prophylactic cranial vault expansion on the basis that if ICP is not currently raised, it is likely to become so. The aim of this study was to examine the justification for such a policy. This was done by analyzing the incidence, causes, and subsequent risk of recurrence in a series of patients with CS, in whom raised ICP was treated only after it had been diagnosed. METHODS This study was a retrospective review of the medical records and imaging data of patients with a clinical diagnosis of CS. RESULTS There were 49 patients in the study, of whom 30 (61.2%) developed at least 1 episode of raised ICP. First episodes occurred at an average age of 1.42 years and were attributable to craniocerebral disproportion/venous hypertension (19 patients), hydrocephalus (8 patients), and airway obstruction (3 patients). They were managed, respectively, by vault expansion, ventriculoperitoneal shunt insertion, and airway improvement. Fourteen of the 30 patients developed a second episode of raised ICP an average of 1.42 years after treatment for their initial episode, and 3 patients developed a third episode an average of 3.15 years after that. Causes of subsequent episodes of raised ICP often differed from previous episodes and required different management. Patients who were < 1 year old when the first episode was diagnosed were at increased risk of recurrence. CONCLUSIONS Although the incidence of raised ICP in CS is high, it did not occur in nearly 40% of children during the course of this study. The several possible causes of CS require different management and may vary from episode to episode. The authors recommend an expectant policy toward these children with careful clinical, ophthalmological, respiratory, and radiological monitoring for raised

  2. Streptococcal toxic shock syndrome caused by Streptococcus suis serotype 2.

    Directory of Open Access Journals (Sweden)

    Jiaqi Tang

    2006-05-01

    Full Text Available BACKGROUND: Streptococcus suis serotype 2 (S. suis 2, SS2 is a major zoonotic pathogen that causes only sporadic cases of meningitis and sepsis in humans. Most if not all cases of Streptococcal toxic shock syndrome (STSS that have been well-documented to date were associated with the non-SS2 group A streptococcus (GAS. However, a recent large-scale outbreak of SS2 in Sichuan Province, China, appeared to be caused by more invasive deep-tissue infection with STSS, characterized by acute high fever, vascular collapse, hypotension, shock, and multiple organ failure. METHODS AND FINDINGS: We investigated this outbreak of SS2 infections in both human and pigs, which took place from July to August, 2005, through clinical observation and laboratory experiments. Clinical and pathological characterization of the human patients revealed the hallmarks of typical STSS, which to date had only been associated with GAS infection. Retrospectively, we found that this outbreak was very similar to an earlier outbreak in Jiangsu Province, China, in 1998. We isolated and analyzed 37 bacterial strains from human specimens and eight from pig specimens of the recent outbreak, as well as three human isolates and two pig isolates from the 1998 outbreak we had kept in our laboratory. The bacterial isolates were examined using light microscopy observation, pig infection experiments, multiplex-PCR assay, as well as restriction fragment length polymorphisms (RFLP and multiple sequence alignment analyses. Multiple lines of evidence confirmed that highly virulent strains of SS2 were the causative agents of both outbreaks. CONCLUSIONS: We report, to our knowledge for the first time, two outbreaks of STSS caused by SS2, a non-GAS streptococcus. The 2005 outbreak was associated with 38 deaths out of 204 documented human cases; the 1998 outbreak with 14 deaths out of 25 reported human cases. Most of the fatal cases were characterized by STSS; some of them by meningitis or severe

  3. Labial adhesions caused by Stevens–Johnson syndrome

    Directory of Open Access Journals (Sweden)

    Jung Mi Byun

    2015-12-01

    Full Text Available Vulvovaginal sequelae in Stevens–Johnson syndrome have been widely described in published literature, however, there is no consensus regarding effective preventive treatments. Labial minora synechiae as sequelae of Stevens–Johnson syndrome are rare, but can reduce patients' quality of life as a result of dysuria, urinary tract infection, and sexual dysfunction. Occasionally, sequelae can induce adenosis, and subsequently result in malignancy. Therefore, biopsy of the affected tissue in Stevens–Johnson syndrome patients with genital involvement should be considered after the acute phase has been resolved. Here, we report Stevens–Johnson syndrome with labial involvement in a 24-year-old woman who was treated with labial adhesiolysis. We recommend genital examination for all women with Stevens–Johnson syndrome to diagnose genital disease and avoid urinary tract infections and other sexual complications.

  4. De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome

    NARCIS (Netherlands)

    Burrage, L.C.; Charng, W.L.; Eldomery, M.K.; Willer, J.R.; Davis, E.E.; Lugtenberg, D.; Zhu, W.; Leduc, M.S.; Akdemir, Z.C.; Azamian, M.; Zapata, G.; Hernandez, P.P.; Schoots, J.; Munnik, S.A. de; Roepman, R.; Pearring, J.N.; Jhangiani, S.; Katsanis, N.; Vissers, L.E.L.M.; Brunner, H.G.; Beaudet, A.L.; Rosenfeld, J.A.; Muzny, D.M.; Gibbs, R.A.; Eng, C.M.; Xia, F.; Lalani, S.R.; Lupski, J.R.; Bongers, E.M.H.F.; Yang, Y

    2015-01-01

    Meier-Gorlin syndrome (MGS) is a genetically heterogeneous primordial dwarfism syndrome known to be caused by biallelic loss-of-function mutations in one of five genes encoding pre-replication complex proteins: ORC1, ORC4, ORC6, CDT1, and CDC6. Mutations in these genes cause disruption of the origin

  5. A rare cause of polyhydramnios: Neu-Laxova syndrome.

    Science.gov (United States)

    Martín, Alicia; Eguiluz, Idoya; Barber, Miguel A; Medina, Norberto; Plasencia, Walter; García-Alix, Alfredo; García-Hernández, José A

    2006-07-01

    Neu-Laxova syndrome is a rare group of congenital malformations including intrauterine growth retardation (IUGR), microcephaly, central nervous system alterations, facial abnormalities, ichthyosis, limb abnormalities, generalized edema, polyhydramnios, and perinatal death. Thirty cases have been identified since the publication of the first two cases and only five of them had a prenatal diagnosis. The earliest diagnosis in a published case was at week 32 of gestation. This study illustrates that the detection of the syndrome during the second trimester of gestation is possible, with emphasis on the detection of the early appearance of polyhydramnios and the association of the syndrome with the Arabic ethnic group.

  6. Acute radiation syndrome caused by accidental radiation exposure - therapeutic principles

    Directory of Open Access Journals (Sweden)

    Dörr Harald

    2011-11-01

    Full Text Available Abstract Fortunately radiation accidents are infrequent occurrences, but since they have the potential of large scale events like the nuclear accidents of Chernobyl and Fukushima, preparatory planning of the medical management of radiation accident victims is very important. Radiation accidents can result in different types of radiation exposure for which the diagnostic and therapeutic measures, as well as the outcomes, differ. The clinical course of acute radiation syndrome depends on the absorbed radiation dose and its distribution. Multi-organ-involvement and multi-organ-failure need be taken into account. The most vulnerable organ system to radiation exposure is the hematopoietic system. In addition to hematopoietic syndrome, radiation induced damage to the skin plays an important role in diagnostics and the treatment of radiation accident victims. The most important therapeutic principles with special reference to hematopoietic syndrome and cutaneous radiation syndrome are reviewed.

  7. Iatrogenic Cushing syndrome caused by ocular glucocorticoids in a child

    National Research Council Canada - National Science Library

    Messina, Maria Francesca; Valenzise, Mariella; Aversa, Salvatore; Arrigo, Teresa; De Luca, Filippo

    2009-01-01

    .... Endocrinological work-up revealed undetectable levels of basal adrenocorticotropic hormone (ACTH), basal and ACTH-stimulated cortisol and 24 h urine excretion cortisol, confirming the diagnosis of iatrogenic Cushing syndrome...

  8. Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

    NARCIS (Netherlands)

    Mayr, J.A.; Haack, T.B.; Graf, E.; Zimmermann, F.A.; Wieland, T.; Haberberger, B.; Superti-Furga, A.; Kirschner, J.; Steinmann, B.; Baumgartner, M.R.; Moroni, I.; Lamantea, E.; Zeviani, M.; Rodenburg, R.J.T.; Smeitink, J.; Strom, T.M.; Meitinger, T.; Sperl, W.; Prokisch, H.

    2012-01-01

    Exome sequencing of an individual with congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, and lactic acidosis, all typical symptoms of Sengers syndrome, discovered two nonsense mutations in the gene encoding mitochondrial acylglycerol kinase (AGK). Mutation screening of AGK in

  9. GITELMAN SYNDROME AS A RARE CAUSE OF HYPOKALEMIA - CASE REPORT

    Directory of Open Access Journals (Sweden)

    Zorica Dimitrijević

    2014-09-01

    Full Text Available Gitelman syndrome is a rare autosomal recessive tubulopathy leading to hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria and low-to-normal blood pressure. Clinical signs are mostly secondary to chronic hypokalemia and include dizziness, fatigue, constipation and weakness. Patients can also present with muscle cramps, tetany and convulsions due to severe metabolic alkalosis or hypomagnesemia. Therefore, early recognition and treatment are important. Diagnosis of Gitelman syndrome is usually made incidentally during adolescence or early adulthood based on clinical and biochemical findings. In this paper we report a case of a young women with classic Gitelman syndrome. Treatment included magnesium and potassium salts and potassium saving diuretics. In general, the long-term prognosis of Gitelman syndrome is excellent. However, the severity of fatigue may seriously hamper some patients in their daily activities.

  10. A Rare Cause of Pheochromocytoma; Neurofibromatosis Type 1-Noonan Syndrome

    Directory of Open Access Journals (Sweden)

    Mazhar Müslüm Tuna

    2014-09-01

    Full Text Available Neurofibromatosis (NF Type 1 (NF-1 is an autosomal dominant disease with a prevalence of about 1/3000. NF-1 is a neurocutaneous syndrome characterized by cafe au lait macules, neurofibroma, optic glioma, lisch nodules, and symptoms involving other systems. Noonan syndrome (NS is a clinically heterogeneous disorder predominantly characterized by dysmorphic facial features, congenital heart disease, proportionate post-natal short stature, neck abnormalities, and chest deformities. NF-NS is a very rare overlapping syndrome sharing many features of both syndromes. Coexistence of pheochromocytoma, which can be life-threatening if not treated properly, is also a very rare complication of this disorder. Here, we report a patient who was admitted with a mass in the right upper quadrant and was diagnosed with pheochromocytoma and NFNS. (The Me­di­cal Bul­le­tin of Ha­se­ki 2014; 52: 227-31

  11. A defect in dystrophin causes a novel porcine stress syndrome

    National Research Council Canada - National Science Library

    Nonneman, Dan J; Brown-Brandl, Tami; Jones, Shuna A; Wiedmann, Ralph T; Rohrer, Gary A

    2012-01-01

    ... the losses; however, DNA testing has effectively eliminated this mutation from commercial herds. We identified two sibling barrows in the USMARC swine herd that died from apparent symptoms of a stress syndrome after transport at 12 weeks of age...

  12. A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome

    OpenAIRE

    Taghdiri, Maryam; Dastsooz, Hassan; Fardaei, Majid; Mohammadi, Sanaz; Farazi Fard, Mohammad Ali; Faghihi, Mohammad Ali

    2017-01-01

    Cockayne syndrome (CS) is a rare autosomal recessive multisystem disorder characterized by impaired neurological and sensory functions, cachectic dwarfism, microcephaly, and photosensitivity. This syndrome shows a variable age of onset and rate of progression, and its phenotypic spectrum include a wide range of severity. Due to the progressive nature of this disorder, diagnosis can be more important when additional signs and symptoms appear gradually and become steadily worse over time. There...

  13. A Rare Cause of Congenital Hypotonia: Walker Warburg Syndrome

    OpenAIRE

    Cigdem Sivrice

    2014-01-01

    Walker-Warburg syndrome (WWS) is an autosomal recessive rare muscle disease which characterized by type 2 lissencephaly, cerebellar abnormalities, and congenital muscular dystrophy of the retinal abnormalities. In this article, we described a patient who born from 1st degree consanguineous marriage mother and father and admitted to our hospital suction weakness and had been diagnosed Walker- Warburg syndrome with physical examination and laboratory tests as a result of severe hypotonia, atypi...

  14. Antenatal Bartter syndrome: a rare cause of unexplained severe polyhydramnios.

    Science.gov (United States)

    Bhat, Y R; Vinayaka, G; Vani, R; Prashanth, K A; Sreelakshmi, K

    2011-01-01

    A woman presented with polyhydramnios at 22 weeks of gestation with a structurally normal fetus and placenta. Biochemical analysis of amniotic fluid detected a very high level of chloride (582 mmol/L), which led to the diagnosis of Bartter syndrome. With serial amniocentesis and indomethacin therapy, the pregnancy continued to 36 weeks. Neonatal and subsequent investigations further supported the diagnosis of Bartter syndrome. The infant was well at birth and now, at 5 months of age, is gaining weight normally on indomethacin.

  15. Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic Syndrome

    Directory of Open Access Journals (Sweden)

    Gianluigi Ardissino

    2017-01-01

    Full Text Available Hemolytic uremic syndrome (HUS is an unrare and severe thrombotic microangiopathy (TMA caused by several pathogenetic mechanisms among which Shiga toxin-producing Escherichia coli infections and complement dysregulation are the most common. However, very rarely and particularly in neonates and infants, disorders of cobalamin metabolism (CblC can present with or be complicated by TMA. Herein we describe a case of atypical HUS (aHUS related to CblC disease which first presented in a previously healthy boy at age of 13.6 years. The clinical picture was initially dominated by nephrotic range proteinuria and severe hypertension followed by renal failure. The specific treatment with high dose of hydroxycobalamin rapidly obtained the remission of TMA and the complete recovery of renal function. We conclude that plasma homocysteine and methionine determinations together with urine organic acid analysis should be included in the diagnostic work-up of any patient with TMA and/or nephrotic syndrome regardless of age.

  16. Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.

    Science.gov (United States)

    Busa, Tiffany; Jeraiby, Mohammed; Clémenson, Alix; Manouvrier, Sylvie; Granados, Viviana; Philip, Nicole; Touraine, Renaud

    2017-09-21

    CHAND syndrome is an autosomal recessive disorder characterized by curly hair, ankyloblepharon, and nail dysplasia. Only few patients were reported to date. A homozygous RIPK4 mutation was recently identified by homozygosity mapping and whole exome sequencing in three patients from an expanded consanguineous kindred with a clinical diagnosis of CHAND syndrome. RIPK4 was previously known to be implicated in Bartsocas-Papas syndrome, the autosomal recessive form of popliteal pterygium syndrome. We report here two cases of RIPK4 homozygous mutations in a fetus with severe Bartsocas-Papas syndrome and a patient with CHAND syndrome. The patient with CHAND syndrome harbored the same mutation as the one identified in the family previously reported. We thus confirm the implication of RIPK4 gene in CHAND syndrome in addition to Bartsocas-Papas syndrome and discuss genotype/phenotype correlations. © 2017 Wiley Periodicals, Inc.

  17. GAUCHER´S DISEASE: A RARE CAUSE OF FANCONI SYNDROME?

    Directory of Open Access Journals (Sweden)

    Musso CG

    2007-01-01

    Full Text Available Gaucher´s disease consists of a genetic autosomic recesive alteration that leads to a reduction in the acid glucosil-ceramide beta-glucosidase enzyme. This enzyme brakes the glucosilceramide, a substance from which many esphingo and glucolipids are synthesized. Even though the renal compromise is not frequent in Gaucher disease, proteinuria (in nephrotic range or not and glomerulonephritis have been described in this illness.Fanconi syndrome is charaterized by a dysfunction in the proximal tubular reabsorption. Among the etiologies of Fanconi syndrome there are many metabolic diseases, but no association has been described yet in the literature between Fanconi syndrome and Gaucher disease. We present the following case report where this association was observed.

  18. A Rare Cause for Cervical Pain: Eagle's Syndrome.

    Science.gov (United States)

    Politi, Massimo; Toro, Corrado; Tenani, Giulia

    2009-01-01

    Patients with pharyngodynia and neck pain symptoms can lead to an extensive differential diagnosis. Eagle's syndrome must be taken in account. Eagle defined "stylalgia" as an autonomous entity related to abnormal length of the styloid process or to mineralization of the stylohyoid ligament complex. The stylohyoid complex derives from Reichert's cartilage of the second branchial arch. The styloyd process is an elongated conical projection of the temporal bone that lies anteriorly to the mastoid process. The incidence of Eagle's syndrome varies among population. Usually asymptomatic, it occurs in adult patients. It is characterized by pharyngodynia localized in the tonsillar fossa and sometimes accompanied by disphagia, odynophagia, foreign body sensation, and temporary voice changes. In some cases, the stylohyoid apparatus compresses the internal and/or the external carotid arteries and their perivascular sympathetic fibers, resulting in a persistent pain irradiating in the carotid territory. The pathogenesis of the syndrome is still under discussion.

  19. Systemic Multiple Aneurysms Caused by Vascular Ehlers-Danlos Syndrome.

    Science.gov (United States)

    Gui, Xinyu; Li, Fangda; Wu, Lingeer; Zheng, Yuehong

    2016-07-01

    Systemic multiple aneurysms are rare and usually associated with collagen tissue disease, such as Ehlers-Danlos syndrome (EDS) or Marfan syndrome. In the present case, we describe a 39-year-old male patient with systemic multiple aneurysms and acute intraperitoneal hemorrhage who was clinically diagnosed with vascular EDS. Coil embolization of the distal segment of the common hepatic artery was performed, which resolved the patient's symptoms. With this case presentation, we aim to increase the awareness of vascular EDS among clinicians and emphasize the extreme fragility of the arteries in patients with vascular EDS. © The Author(s) 2016.

  20. A Rare Cause of Congenital Hypotonia: Walker Warburg Syndrome

    Directory of Open Access Journals (Sweden)

    Cigdem Sivrice

    2014-08-01

    Full Text Available Walker-Warburg syndrome (WWS is an autosomal recessive rare muscle disease which characterized by type 2 lissencephaly, cerebellar abnormalities, and congenital muscular dystrophy of the retinal abnormalities. In this article, we described a patient who born from 1st degree consanguineous marriage mother and father and admitted to our hospital suction weakness and had been diagnosed Walker- Warburg syndrome with physical examination and laboratory tests as a result of severe hypotonia, atypical facial appearance, accompanying eye and brain abnormalities are very high serum creatine phosphokinase levels and wanted to draw attention to this rare muscle disease in the differential diagnosis of hypotonic infants.

  1. Toxigenic and metabolic causes of ketosis and ketoacidotic syndromes.

    Science.gov (United States)

    Cartwright, Martina M; Hajja, Waddah; Al-Khatib, Sofian; Hazeghazam, Maryam; Sreedhar, Dharmashree; Li, Rebecca Na; Wong-McKinstry, Edna; Carlson, Richard W

    2012-10-01

    Ketoacidotic syndromes are frequently encountered in acute care medicine. This article focuses on ketosis and ketoacidotic syndromes associated with intoxications, alcohol abuse, starvation, and certain dietary supplements as well as inborn errors of metabolism. Although all of these various processes are characterized by the accumulation of ketone bodies and metabolic acidosis, there are differences in the mechanisms, clinical presentations, and principles of therapy for these heterogeneous disorders. Pathophysiologic mechanisms that account for these disorders are presented, as well as guidance regarding identification and management. Copyright © 2012 Elsevier Inc. All rights reserved.

  2. A Rare Cause for Cervical Pain: Eagle's Syndrome

    Directory of Open Access Journals (Sweden)

    Massimo Politi

    2009-01-01

    The stylohyoid complex derives from Reichert's cartilage of the second branchial arch. The styloyd process is an elongated conical projection of the temporal bone that lies anteriorly to the mastoid process. The incidence of Eagle's syndrome varies among population. Usually asymptomatic, it occurs in adult patients. It is characterized by pharyngodynia localized in the tonsillar fossa and sometimes accompanied by disphagia, odynophagia, foreign body sensation, and temporary voice changes. In some cases, the stylohyoid apparatus compresses the internal and/or the external carotid arteries and their perivascular sympathetic fibers, resulting in a persistent pain irradiating in the carotid territory. The pathogenesis of the syndrome is still under discussion.

  3. Another cause of vaccine encephalopathy: A case of Angelman syndrome

    NARCIS (Netherlands)

    Novy, Jan; Catarino, Claudia B.; Chinthapalli, Krishna; Smith, Shelagh M.; Clayton-Smith, Jill; Hennekam, Raoul C. M.; Hammond, Peter; Sisodiya, Sanjay M.

    2012-01-01

    Dravet syndrome has been found recently as an important underlying condition in cases of alleged vaccine encephalopathy after pertussis vaccination, where vaccination seemed to have precipitated the occurrence of the disease without modifying the long-term course. We report on a patient diagnosed

  4. Cantu syndrome is caused by mutations in ABCC9

    NARCIS (Netherlands)

    Bon, B.W. van; Gilissen, C.; Grange, D.K.; Hennekam, R.C.; Kayserili, H.; Engels, H.; Reutter, H.; Ostergaard, J.R.; Morava, E.; Tsiakas, K.; Isidor, B.; Merrer, M. le; Eser, M.; Wieskamp, N.; Vries, P. de; Steehouwer, M.; Veltman, J.A.; Robertson, S.P.; Brunner, H.G.; Vries, B.B. de; Hoischen, A.

    2012-01-01

    Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Using an exome-sequencing approach applied to one proband-parent trio and three unrelated single cases, we identified heterozygous mutations in ABCC9

  5. Dominant missense mutations in ABCC9 cause Cantu syndrome.

    NARCIS (Netherlands)

    Harakalova, M.; Harssel, J.J. van; Terhal, P.A.; Lieshout, S. van; Duran, K.; Renkens, I.; Amor, D.J.; Wilson, L.C.; Kirk, E.P.; Turner, C.L.; Shears, D.; Garcia-Minaur, S.; Lees, M.M.; Ross, A.; Venselaar, H.; Vriend, G.; Takanari, H.; Rook, M.B.; Heyden, M.A. van der; Asselbergs, F.W.; Breur, H.M.; Swinkels, M.E.; Scurr, I.J.; Smithson, S.F.; Knoers, N.V.A.M.; Smagt, J.J. van der; Nijman, I.J.; Kloosterman, W.P.; Haelst, M.M. van; Haaften, G. van; Cuppen, E.

    2012-01-01

    Cantu syndrome is characterized by congenital hypertrichosis, distinctive facial features, osteochondrodysplasia and cardiac defects. By using family-based exome sequencing, we identified a de novo mutation in ABCC9. Subsequently, we discovered novel dominant missense mutations in ABCC9 in 14 of the

  6. Cantu Syndrome Is Caused by Mutations in ABCC9

    NARCIS (Netherlands)

    van Bon, Bregje W. M.; Gilissen, Christian; Grange, Dorothy K.; Hennekam, Raoul C. M.; Kayserili, Hülya; Engels, Hartmut; Reutter, Heiko; Ostergaard, John R.; Morava, Eva; Tsiakas, Konstantinos; Isidor, Bertrand; Le Merrer, Martine; Eser, Metin; Wieskamp, Nienke; de Vries, Petra; Steehouwer, Marloes; Veltman, Joris A.; Robertson, Stephen P.; Brunner, Han G.; de Vries, Bert B. A.; Hoischen, Alexander

    2012-01-01

    Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Using an exome-sequencing approach applied to one proband-parent trio and three unrelated single cases, we identified heterozygous mutations in ABCC9

  7. Dominant missense mutations in ABCC9 cause Cantu syndrome

    NARCIS (Netherlands)

    Harakalova, M.; van Harssel, J.J.; Terhal, P.A.; van Lieshout, S.; Duran, K.; Renkens, I.; Amor, D.J.; Wilson, L.C.; Kirk, E.P.; Turner, C.L.; Shears, D.; Garcia-Minaur, S.; Lees, M.M.; Ross, A.; Venselaar, H.; Vriend, G.; Takanari, H.; Rook, M.B.; van der Heyden, M.A.; Asselbergs, F.W.; Breur, H.M.; Swinkels, M.E.; Scurr, I.J.; Smithson, S.F.; Knoers, N.V.; van der Smagt, J.J.; Nijman, I.J.; Kloosterman, W.P.; van Haelst, M.M.; van Haaften, G.; Cuppen, E.

    2012-01-01

    Cantu syndrome is characterized by congenital hypertrichosis, distinctive facial features, osteochondrodysplasia and cardiac defects. By using family-based exome sequencing, we identified a de novo mutation in ABCC9. Subsequently, we discovered novel dominant missense mutations in ABCC9 in 14 of the

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

    African Journals Online (AJOL)

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

  9. Staphylococcal Toxic Shock Syndrome Caused by Tampon Use

    Directory of Open Access Journals (Sweden)

    Cian McDermott

    2015-01-01

    Full Text Available The authors report a case of near-fatal sepsis with multiorgan failure resulting from a Staphylococcal tampon-associated toxic shock syndrome, requiring a lengthy critical care admission. Successful treatment of this condition focuses on early identification, source control, and administration of antimicrobial agents. Intravenous immunoglobulin therapy used early may prevent widespread tissue necrosis.

  10. Bardet Biedel Syndrome: a Rare Cause of Chronic Kidney Disease

    Directory of Open Access Journals (Sweden)

    Yildirim Tuba Demirci

    2016-06-01

    Full Text Available Bardet Biedl syndrome (BBS is characterized by obesity, retinitis pigmentosa, hypogonadism, mental retardation and polydactyly. Additionally, renal, cardiac and neurological manifestations may be seen. We report a case of BBS with chronic kidney disease (CKD at the age of 43.

  11. Horner's syndrome caused by an intercostal chest drain.

    OpenAIRE

    Campbell, P.; Neil, T; Wake, P. N.

    1989-01-01

    Horner's syndrome occurred in a young woman as a complication of the treatment of a traumatic pneumothorax with an intercostal drain. The nerve damage probably occurred when the lung had fully re-expanded, pressing the tip of the intercostal drain, lying at the apex of the pleural cavity, on to the sympathetic chain.

  12. A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome

    NARCIS (Netherlands)

    Oud, M.M.; Bonnard, C.; Mans, D.A.; Altunoglu, U.; Tohari, S.; Ng, A.Y.; Eskin, A.; Lee, H.; Rupar, C.A.; Wagenaar, N.P. de; Wu, K.M.; Lahiry, P.; Pazour, G.J.; Nelson, S.F.; Hegele, R.A.; Roepman, R.; Kayserili, H.; Venkatesh, B.; Siu, V.M.; Reversade, B.; Arts, H.H.

    2016-01-01

    BACKGROUND: Endocrine-cerebro-osteodysplasia (ECO) syndrome [MIM:612651] caused by a recessive mutation (p.R272Q) in Intestinal cell kinase (ICK) shows significant clinical overlap with ciliary disorders. Similarities are strongest between ECO syndrome, the Majewski and Mohr-Majewski short-rib

  13. Ectopic ACTH-Dependent Cushing’s Syndrome Caused by Bronchial Carcinoid

    Directory of Open Access Journals (Sweden)

    P.M. Liashuk

    2015-11-01

    Full Text Available The article presents the concept of ectopic ACTH-secreting tumors of the neuroendocrine system. There was described a rare case of ectopic ACTH-dependent Cushing’s syndrome caused by bronchial carcinoid, in the clinical pattern of which, along with typical symptoms, thromboembolic syndrome dominated. Surgical removal of bronchial carcinoid led to regression of cushingoid and other symptoms.

  14. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

    NARCIS (Netherlands)

    Bicknell, Louise S.; Farrington-Rock, Claire; Shafeghati, Yousef; Rump, Patrick; Alanay, Yasemin; Alembik, Yves; Al-Madani, Navid; Firth, Helen; Karimi-Nejad, Mohammad Hassan; Kim, Chong Ae; Leask, Kathryn; Maisenbacher, Melissa; Moran, Ellen; Pappas, John G.; Prontera, Paolo; de Ravel, Thomy; Fryns, Jean-Pierre; Sweeney, Elizabeth; Fryer, Alan; Unger, Sheila; Wilson, L. C.; Lachman, Ralph S.; Rimoin, David L.; Cohn, Daniel H.; Krakow, Deborah; Robertson, Stephen P.

    Background: Larsen syndrome is an autosomal dominant osteochondrodysplasia characterised by large-joint dislocations and craniofacial anomalies. Recently, Larsen syndrome was shown to be caused by missense mutations or small inframe deletions in FLNB, encoding the cytoskeletal protein filamin B. To

  15. Determining the Amount, Timing and Causes of Mortality among Infants with Down Syndrome

    Science.gov (United States)

    Goldman, S. E.; Urbano, R. C.; Hodapp, R. M.

    2011-01-01

    Objective: To examine the amount, timing and causes/correlates of infant mortality among newborns with Down syndrome. Methods: Using the Tennessee Department of Health Birth, Hospital Discharge and Death records, infants were identified who were born with Down syndrome from 1990 to 2006. Those who died during the first year were separated into…

  16. A specific mutation in TBL1XR1 causes Pierpont syndrome

    NARCIS (Netherlands)

    Heinen, Charlotte A.; Jongejan, Aldo; Watson, Peter J.; Redeker, Bert; Boelen, Anita; Boudzovitch-Surovtseva, Olga; Forzano, Francesca; Hordijk, Roel; Kelley, Richard; Olney, Ann H.; Pierpont, Mary Ella; Schaefer, G. Bradley; Stewart, Fiona; van Trotsenburg, A. S. Paul; Fliers, Eric; Schwabe, John W. R.; Hennekam, Raoul C.

    2016-01-01

    The combination of developmental delay, facial characteristics, hearing loss and abnormal fat distribution in the distal limbs is known as Pierpont syndrome. The aim of the present study was to detect and study the cause of Pierpont syndrome. We used whole-exome sequencing to analyse four unrelated

  17. A specific mutation in TBL1XR1 causes Pierpont syndrome

    NARCIS (Netherlands)

    Heinen, Charlotte A.; Jongejan, Aldo; Watson, Peter J.; Redeker, Bert; Boelen, Anita; Boudzovitch-Surovtseva, Olga; Forzano, Francesca; Hordijk, Roel; Kelley, Richard; Olney, Ann H.; Pierpont, Mary Ella; Schaefer, G. Bradley; Stewart, Fiona; van Trotsenburg, A. S. Paul; Fliers, Eric; Schwabe, John W. R.; Hennekam, Raoul C.

    Background The combination of developmental delay, facial characteristics, hearing loss and abnormal fat distribution in the distal limbs is known as Pierpont syndrome. The aim of the present study was to detect and study the cause of Pierpont syndrome. Methods We used whole-exome sequencing to

  18. Acute Carpal Tunnel Syndrome Caused by Diffuse Giant Cell Tumor of Tendon Sheath: A Case Report

    Science.gov (United States)

    Ward, Christina M; Lueck, Nathan E; Steyers, Curtis M

    2007-01-01

    A 46 year old male developed spontaneous acute carpal tunnel syndrome of the right wrist without any antecedent trauma. Surgical exploration revealed hemorrhage secondary to diffuse giant cell tumor of tendon sheath as the underlying cause. PMID:17907439

  19. NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski

    National Research Council Canada - National Science Library

    Thiel, Christian; Kessler, Kristin; Giessl, Andreas; Dimmler, Arno; Shalev, Stavit A; von der Haar, Sigrun; Zenker, Martin; Zahnleiter, Diana; Stöss, Hartmut; Beinder, Ernst; Abou Jamra, Rami; Ekici, Arif B; Schröder-Kreß, Nadja; Aigner, Thomas; Kirchner, Thomas; Reis, André; Brandstätter, Johann H; Rauch, Anita

    2011-01-01

    .... We used homozygosity mapping in two families with autosomal-recessive short-rib polydactyly syndrome Majewski type to identify mutations in NEK1 as an underlying cause of this lethal osteochondrodysplasia...

  20. Superior mesenteric artery (SMA) syndrome: an unusual cause of intestinal obstruction in palliative care.

    Science.gov (United States)

    So, Chun-Yan; Chan, Kwok-Ying; Au, Ho-Yan; Chan, Man-Lui; Lai, Theresa

    2017-01-01

    Superior mesenteric artery (SMA) syndrome is an uncommon cause of intestinal obstruction and seldom been mentioned in palliative care. Hereby, we reported a case of SMA syndrome who presented with symptoms of upper intestinal obstruction in a 68-year-old patient; subsequent CT findings were classical of SMA syndrome. The patient's history of poliomyelitis and recent significant weight loss were the predisposing factors for SMA syndrome. It also highlights the importance of monitoring signs and symptoms of intestinal obstruction in such patients before considering switching to oral feeding.

  1. Pulmonary embolic syndrome caused by cementing of hip endoprosthesis.

    Science.gov (United States)

    Barron, D W

    1980-12-01

    Previous studies have indicated that cementing of the femoral component in total hip replacement produces the features of the pulmonary embolic syndrome (P.E.S.). The present investigations have been carried out to ascertain if newer methods of insertion modify these features. There was no evidence to suggest that any of these approaches has any advantage over the others in relation to the various components of P.E.S.

  2. Rare cause of pediatric obesity: Bardet - Biedl Syndrome

    Directory of Open Access Journals (Sweden)

    Mitul B Kalathia

    2014-01-01

    Full Text Available Bardet - Biedl syndrome (BBS is a rare autosomal recessive disorder, characterized by central obesity, retinal pigmentation, polydactyly, mental retardation, hypogonadism, and renal dysfunction. Other features may include deafness, diabetes mellitus, genitourinary abnormalities, short stature, hormonal abnormalities, developmental defects, and speech problems. We report a case of BBS who presented with night blindness, marked central obesity, polydactyly, syndactyly, hypogonadism, micropenis, and behavioral problems, along with a brief review of the literature.

  3. Uric Acid as a Cause of the Metabolic Syndrome.

    Science.gov (United States)

    King, Christopher; Lanaspa, Miguel A; Jensen, Thomas; Tolan, Dean R; Sánchez-Lozada, L Gabriela; Johnson, Richard J

    2018-01-01

    Hyperuricemia is common in subjects with obesity, metabolic syndrome, and type 2 diabetes. For many years, hyperuricemia was attributed to the effects of insulin resistance to reduce urinary excretion of uric acid, and it was believed that uric acid may not have any causal role in the metabolic syndrome. However, in recent years, hyperuricemia has been found to independently predict the development of diabetes. Experimental studies have also shown that hyperuricemia may mediate insulin resistance, fatty liver, and dyslipidemia in both fructose-dependent and fructose-independent models of metabolic syndrome. The mechanism for uric acid-induced insulin resistance appears to be mediated by the development of mitochondrial oxidative stress and impairment of insulin-dependent stimulation of nitric oxide in endothelial cells. Pilot studies in humans have reported a potential benefit of lowering serum uric acid on insulin resistance. Large clinical trials are recommended. If uric acid is shown to be a mediator of incident type 2 diabetes in humans, then lowering serum uric acid would represent a simple and inexpensive way to help prevent the development of diabetes and to slow the epidemic. © 2018 S. Karger AG, Basel.

  4. Duane retraction syndrome: causes, effects and management strategies

    Directory of Open Access Journals (Sweden)

    Kekunnaya R

    2017-10-01

    Full Text Available Ramesh Kekunnaya, Mithila Negalur Pediatric Ophthalmology and Strabismus Services, Child Sight Institute, Jasti V Ramannama Children’s Eye Care Center, KAR Campus, Hyderabad, India Abstract: Duane retraction syndrome (DRS is a congenital eye movement anomaly characterized by variable horizontal duction deficits, with narrowing of the palpebral fissure and globe retraction on attempted adduction, occasionally accompanied by upshoot or downshoot. The etiopathogenesis of this condition can be explained by a spectrum of mechanical, innervational, neurologic and genetic abnormalities occurring independently or which influence each other giving rise to patterns of clinical presentations along with a complex set of ocular and systemic anomalies. Huber type I DRS is the most common form of DRS with an earlier presentation, while Huber type II is the least common presentation. Usually, patients with unilateral type I Duane syndrome have esotropia more frequently than exotropia, those with type II have exotropia and those with type III have esotropia and exotropia occurring equally common. Cases of bilateral DRS may have variable presentation depending upon the type of presentation in each eye. As regards its management, DRS classification based on primary position deviation as esotropic, exotropic or orthotropic is more relevant than Huber’s classification before planning surgery. Surgical approach to these patients is challenging and must be individualized based on the amount of ocular deviation, abnormal head position, associated globe retraction and overshoots. Keywords: Duane syndrome, strabismus surgery, esotropia, overshoots

  5. A Lemierre syndrome variant caused by Klebsiella pneumoniae

    Directory of Open Access Journals (Sweden)

    Yih-Jeng Tsai

    2012-07-01

    Full Text Available Lemierre syndrome is an extremely rare disease characterized by oropharyngeal infection, septicemia, internal jugular vein thrombosis, and skip lesions. The most common causative pathogen is Fusobacterium necrophorum. We reported a 45-year-old woman who presented with left neck painful swelling and septicemia. Magnetic resonance imaging of the head and neck demonstrated venous thrombosis extending from the left internal jugular vein to the sigmoid sinus. During admission we discovered that the patient had uncontrolled diabetes mellitus. We also found a metastatic lesion through chest radiography. Klebsiella pneumoniae was cultivated from both blood samples and pus from deep neck spaces. Surgical drainage, early and adequate antibiotic treatment, anticoagulation, and strict control of blood glucose led to the patient's complete recovery. Because Lemierre syndrome is a forgotten disease in the era of antibiotics, awareness of the signs and symptoms of this disease is important because of its associated high mortality rate. This case illustrated that the presence of K pneumoniae can lead to Lemierre syndrome.

  6. An unusual cause of the quadrilateral space impingement syndrome by a bone spike

    Energy Technology Data Exchange (ETDEWEB)

    Amin, Mohammed F.; Berst, Matthew; El-Khoury, George Y. [University of Iowa Hospitals and Clinics, Radiology, Iowa City, IO (United States)

    2006-12-15

    The quadrilateral space impingement syndrome is a clinical syndrome resulting from compression of the axillary nerve and the posterior circumflex humeral artery, with subsequent focal atrophy of the teres minor, with or without involvement of portions of the deltoid muscle. This entity has many etiologies. We are reporting a case of this syndrome caused by a bone spike from a malunited old scapular fracture following a motor vehicle accident. The bone spike impinged on the axillary nerve as it passes through the quadrilateral space, causing focal atrophy of the teres minor muscle. The abnormality was well demonstrated by MD-CT. (orig.)

  7. An unusual cause of the quadrilateral space impingement syndrome by a bone spike.

    Science.gov (United States)

    Amin, Mohammed F; Berst, Matthew; el-Khoury, George Y

    2006-12-01

    The quadrilateral space impingement syndrome is a clinical syndrome resulting from compression of the axillary nerve and the posterior circumflex humeral artery, with subsequent focal atrophy of the teres minor, with or without involvement of portions of the deltoid muscle. This entity has many etiologies. We are reporting a case of this syndrome caused by a bone spike from a malunited old scapular fracture following a motor vehicle accident. The bone spike impinged on the axillary nerve as it passes through the quadrilateral space, causing focal atrophy of the teres minor muscle. The abnormality was well demonstrated by MD-CT.

  8. Cubital tunnel syndrome due to heterotrophic ossification caused by radial head fracture: A case report

    Directory of Open Access Journals (Sweden)

    Seyitali Gumustas

    2014-04-01

    Full Text Available Compression of the ulnar nerve in the cubital tunnel is the second most common nerve entrapment syndrome in the upper extremity after carpal tunnel syndrome. Although various etiologies have been described, heterotrophic ossification is rarely seen. Heterotrophic ossification should be kept in mind as a cause of ulnar nerve entrapment after elbow trauma. Early diagnosis and surgical intervention are important in such cases before completion of the maturation phase. We report a case of heterotrophic ossification due to elbow trauma that caused cubital tunnel syndrome. [Hand Microsurg 2014; 3(1.000: 24-28

  9. Outcome of renal proximal tubular dysfunction with Fanconi syndrome caused by sodium valproate.

    Science.gov (United States)

    Yamazaki, Sawako; Watanabe, Toru; Sato, Seiichi; Yoshikawa, Hideto

    2016-10-01

    Although Fanconi syndrome is rare in patients with epilepsy treated with sodium valproate (VPA), the prevalence might be higher in children with severe motor and intellectual disabilities (SMID). VPA-induced Fanconi syndrome usually has a favorable outcome, but the long-term outcome of renal tubular dysfunction in SMID patients remains unknown. The aim of this study was therefore to investigate the long-term outcome of renal proximal dysfunction in SMID children with Fanconi syndrome caused by VPA. The records of six children with SMID and Fanconi syndrome caused by VPA were retrospectively reviewed to assess long-term proximal renal tubular function after discontinuation of VPA. All six patients had intractable epilepsy and required tube feeding. Proximal tubular dysfunction improved in almost all patients after VPA discontinuation, although abnormal uric acid reabsorption persisted in three patients. Five patients had hypocarnitinemia. After carnitine supplementation, one of these three patients with decreased ability to reabsorb uric acid had a normal serum level and improved fractional excretion of uric acid. Secondary carnitine deficiency may cause prolonged tubular dysfunction in some SMID patients with VPA-induced Fanconi syndrome. Fanconi syndrome caused by VPA is a usually reversible dysfunction of the proximal tubules, but can be permanent. Although not effective for all patients, carnitine is recommended for patients with VPA-induced Fanconi syndrome, especially children with SMID. © 2016 Japan Pediatric Society.

  10. [Sick building syndrome or fungal allergy? When houses cause illness].

    Science.gov (United States)

    Kapfhammer, H P

    2003-08-21

    In modern societies, the sick building syndrome (SBS) is a very common building-related complex of unspecific symptoms affecting groups of persons. Most frequently, complains include irritation of the eyes and respiratory tract that are believed to be related to negative ambient factors at the workplace. The etiology is multifactorial. In persons showing typical anxiety about the environment, SBS may also be considered a variant of a somatoform disorder. SBS must be clearly differentiated from building-related illness. Diagnostic measures and therapeutic implications are discussed.

  11. Acute Compartment Syndrome in Orthopedics: Causes, Diagnosis, and Management

    Science.gov (United States)

    Raza, Hasnain; Mahapatra, Anant

    2015-01-01

    Almost all orthopaedic surgeons come across acute compartment syndrome (ACS) in their clinical practice. Diagnosis of ACS mostly relies on clinical findings. If the diagnosis is missed and left untreated, it can lead to serious consequences which can endanger limb and life of the patient and also risk the clinician to face lawsuits. This review article highlights the characteristic features of ACS which will help an orthopaedic surgeon to understand the pathophysiology, natural history, high risk patients, diagnosis, and surgical management of the condition. PMID:25688303

  12. [Bartter syndrome--a rare cause of severe polyhydramnios].

    Science.gov (United States)

    Media, Jean; Hoseth, Gerd Eva

    2006-12-11

    We report a case of a 25-year-old woman, gravida II, Para I, in pregnancy week 26 + 4 with severe polyhydramnios. The amniotic fluid index was about 39. Type 2 scanning showed a large urinary bladder only. Treated in pregnancy with repeated aminodrinage, total 21 litres. In week 33 + 5, a Caesarean section was performed. A girl with Apgar score 10/1, 0/10 was born, weight 1,804 grammes. Immediately after birth the child developed polyuria with diuresis, about 8-10 ml/kg/hour, electrolyte disturbance, and vomiting, treated with Losec, Gaviscon, indometacin, and Vioxx. The diagnosis was Bartter syndrome.

  13. Haemolytic Uraemic Syndrome: An Unusual Cause of Jaundice ...

    African Journals Online (AJOL)

    In the course of investigating the cause of her symptoms, a diagnosis of HUS was made and she was commenced on therapeutic plasma exchange and hemodialysis. Conclusion: The main lesson is to raise awareness of HUS as a possible cause of jaundice among physicians, especially those in the emergency care.

  14. Iatrogenic Cushing syndrome caused by ocular glucocorticoids in a child.

    Science.gov (United States)

    Messina, Maria Francesca; Valenzise, Mariella; Aversa, Salvatore; Arrigo, Teresa; De Luca, Filippo

    2009-01-01

    A boy aged 7.6 years presented to our Unit of Paediatric Endocrinology for evaluation of obesity. Progressive weight gain (10 kg) started 6 months earlier after an accidental penetrating orbital injury on the right eye. During this period the child has been treated with oral betamethasone (0.5 mg/day) for 1 month and dexamethasone 2% ocular drops (2 hourly by day) for 6 months. Physical examination showed he was 113.5 cm in height (-1.5 SD), weight 36.0 kg, blood pressure 110/90 mmHg (90th centile), body mass index 28 (+5 SD), truncal obesity, buffalo hump, "moon-face", increased lanugo hair and supraclavicular fullness. Endocrinological work-up revealed undetectable levels of basal adrenocorticotropic hormone (ACTH), basal and ACTH-stimulated cortisol and 24 h urine excretion cortisol, confirming the diagnosis of iatrogenic Cushing syndrome. The abrupt withdrawal of ocular glucocorticoids by the parents evoked two adrenal crises; 4 months later the patient recovered. In conclusion, we would alert doctors that every formulation of glucocorticoids, no ocular drops excluded, can determine severe systemic side effects and iatrogenic Cushing syndrome.

  15. Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

    NARCIS (Netherlands)

    Doherty, D.; Parisi, M. A.; Finn, L. S.; Gunay-Aygun, M.; Al-Mateen, M.; Bates, D.; Clericuzio, C.; Demir, H.; Dorschner, M.; van Essen, A. J.; Gahl, W. A.; Gentile, M.; Gorden, N. T.; Hikida, A.; Knutzen, D.; Ozyurek, H.; Phelps, I.; Rosenthal, P.; Verloes, A.; Weigand, H.; Chance, P. F.; Dobyns, W. B.; Glass, I. A.

    Objective To identify genetic causes of COACH syndrome Background COACH syndrome is a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia, Oligophrenia (developmental delay/mental retardation), Ataxia, Coloboma, and Hepatic fibrosis. The vermis hypoplasia falls in a

  16. A defect in dystrophin causes a novel porcine stress syndrome

    Directory of Open Access Journals (Sweden)

    Nonneman Dan J

    2012-06-01

    Full Text Available Abstract Background Losses of slaughter-weight pigs due to transport stress are both welfare and economic concerns to pork producers. Historically, the HAL-1843 mutation in ryanodine receptor 1 was considered responsible for most of the losses; however, DNA testing has effectively eliminated this mutation from commercial herds. We identified two sibling barrows in the USMARC swine herd that died from apparent symptoms of a stress syndrome after transport at 12 weeks of age. The symptoms included open-mouth breathing, skin discoloration, vocalization and loss of mobility. Results We repeated the original mating along with sire-daughter matings to produce additional offspring. At 8 weeks of age, heart rate and electrocardiographs (ECG were monitored during isoflurane anesthesia challenge (3% for 3 min. Four males from the original sire-dam mating and two males from a sire-daughter mating died after one minute of anesthesia. Animals from additional litters were identified as having a stress response, sometimes resulting in death, during regular processing and weighing. Affected animals had elevated plasma creatine phosphokinase (CPK levels before and immediately after isoflurane challenge and cardiac arrhythmias. A pedigree containing 250 pigs, including 49 affected animals, was genotyped with the Illumina PorcineSNP60 Beadchip and only one chromosomal region, SSCX at 25.1-27.7 Mb over the dystrophin gene (DMD, was significantly associated with the syndrome. An arginine to tryptophan (R1958W polymorphism in exon 41 of DMD was the most significant marker associated with stress susceptibility. Immunoblots of affected heart and skeletal muscle showed a dramatic reduction of dystrophin protein and histopathology of affected hearts indicated muscle fiber degeneration. Conclusions A novel stress syndrome was characterized in pigs and the causative genetic factor most likely resides within DMD that results in less dystrophin protein and cardiac

  17. A defect in dystrophin causes a novel porcine stress syndrome.

    Science.gov (United States)

    Nonneman, Dan J; Brown-Brandl, Tami; Jones, Shuna A; Wiedmann, Ralph T; Rohrer, Gary A

    2012-06-12

    Losses of slaughter-weight pigs due to transport stress are both welfare and economic concerns to pork producers. Historically, the HAL-1843 mutation in ryanodine receptor 1 was considered responsible for most of the losses; however, DNA testing has effectively eliminated this mutation from commercial herds. We identified two sibling barrows in the USMARC swine herd that died from apparent symptoms of a stress syndrome after transport at 12 weeks of age. The symptoms included open-mouth breathing, skin discoloration, vocalization and loss of mobility. We repeated the original mating along with sire-daughter matings to produce additional offspring. At 8 weeks of age, heart rate and electrocardiographs (ECG) were monitored during isoflurane anesthesia challenge (3% for 3 min). Four males from the original sire-dam mating and two males from a sire-daughter mating died after one minute of anesthesia. Animals from additional litters were identified as having a stress response, sometimes resulting in death, during regular processing and weighing. Affected animals had elevated plasma creatine phosphokinase (CPK) levels before and immediately after isoflurane challenge and cardiac arrhythmias. A pedigree containing 250 pigs, including 49 affected animals, was genotyped with the Illumina PorcineSNP60 Beadchip and only one chromosomal region, SSCX at 25.1-27.7 Mb over the dystrophin gene (DMD), was significantly associated with the syndrome. An arginine to tryptophan (R1958W) polymorphism in exon 41 of DMD was the most significant marker associated with stress susceptibility. Immunoblots of affected heart and skeletal muscle showed a dramatic reduction of dystrophin protein and histopathology of affected hearts indicated muscle fiber degeneration. A novel stress syndrome was characterized in pigs and the causative genetic factor most likely resides within DMD that results in less dystrophin protein and cardiac abnormalities that can lead to death under stressful conditions

  18. Muscle intrusion as a potential cause of carpal tunnel syndrome.

    Science.gov (United States)

    Cartwright, Michael S; Walker, Francis O; Newman, Jill C; Arcury, Thomas A; Mora, Dana C; Haiying, Chen; Quandt, Sara A

    2014-10-01

    The aim of this study was to determine whether there is an association between flexor digitorum and lumbrical muscle intrusion into the carpal tunnel and carpal tunnel syndrome (CTS). Five hundred thirteen manual laborers (1026 wrists) were evaluated with ultrasound to determine whether those with CTS had more muscle intrusion into the carpal tunnel than those without CTS. One hundred ninety of the participants without CTS at baseline (363 wrists) were followed over 1 year to determine whether muscle intrusion at baseline predicted the development of CTS. Participants with CTS had more muscle within the carpal tunnel with the wrist in the neutral (P=0.026) and flexed (P=0.018) positions than those without CTS. Baseline muscle intrusion did not predict development of CTS at 1 year. Muscle intrusion into the carpal tunnel is associated with CTS, but muscle intrusion alone does not predict the development of CTS over the course of a year. © 2014 Wiley Periodicals, Inc.

  19. Chronic fibrosing pulmonary aspergillosis: a cause of 'destroyed lung' syndrome.

    Science.gov (United States)

    Kosmidis, Chris; Newton, Pippa; Muldoon, Eavan G; Denning, David W

    2017-04-01

    Chronic pulmonary aspergillosis (CPA) has substantial impact on quality of life. A subset of patients develops significant pulmonary fibrosis, identified either on biopsy or radiologically. The term chronic fibrosing pulmonary aspergillosis (CFPA) has been suggested. We describe 11 patients with CFPA referred to our centre. Mean age was 58.5 years and five were male. In nine, fibrosis was already evident on presentation, while in two it developed 3 and 6 years later. The predominant radiological feature was extensive or complete involvement of the entire lung, with minimal contralateral involvement. All patients received prolonged antifungal treatment. Two patients had surgical treatment; both developed post-operative complications. The contralateral lung remained free of significant disease in all but three patients. CFPA is a rare complication of CPA that is usually evident on presentation, but may develop after years in patients not on antifungals. Fibrosis resembles the 'destroyed lung' syndrome described after treated tuberculosis.

  20. Lynch Syndrome Caused by Germline PMS2 Mutations

    DEFF Research Database (Denmark)

    Ten Broeke, Sanne W; Brohet, Richard M; Tops, Carli M

    2015-01-01

    PURPOSE: The clinical consequences of PMS2 germline mutations are poorly understood compared with other Lynch-associated mismatch repair gene (MMR) mutations. The aim of this European cohort study was to define the cancer risk faced by PMS2 mutation carriers. METHODS: Data were collected from 98...... PMS2 families ascertained from family cancer clinics that included a total of 2,548 family members and 377 proven mutation carriers. To adjust for potential ascertainment bias, a modified segregation analysis model was used to calculate colorectal cancer (CRC) and endometrial cancer (EC) risks....... Standardized incidence ratios (SIRs) were calculated to estimate risks for other Lynch syndrome-associated cancers. RESULTS: The cumulative risk (CR) of CRC for male mutation carriers by age 70 years was 19%. The CR among female carriers was 11% for CRC and 12% for EC. The mean age of CRC development was 52...

  1. Fetal alcohol syndromecauses, diagnostic criteria and prevalence

    Directory of Open Access Journals (Sweden)

    Agata Horecka-Lewitowicz

    2014-04-01

    Full Text Available Fetal alcohol syndrome (FAS is the outcome of alcohol exposition in the prenatal period. It is irreversible. In Poland, FAS is becoming more and more common, the diagnostic tools are limited though. It is recommended to use the 4-Digit Diagnostic Code, which evaluates the 4 basic FAS symptoms: growth retardation, dysmorphic appearance, damage to the central nervous system and prenatal alcohol exposure. It has been confirmed that there is no safe amount of alcohol for a mother to drink while carrying a baby. To put it another way, only a complete lack of alcohol consumption is a guarantee that the baby will not suffer from FAS. It is necessary for society to know that even the smallest amount of alcohol is bad for the foetus. A number of people still believe that, for example, red wine is good and healthy for both the mother and child.

  2. A Rare Cause of Mucocutaneous Pigmentation: Laugier Hunziker Syndrome

    Directory of Open Access Journals (Sweden)

    Gonca Meriç

    2011-11-01

    Full Text Available Laugier Hunziker syndrome (LHS is a rare, acquired pigmentation disorder characterized by macular melonotic pigmentation of the oral mucous membranes and lips frequently associated with longitudinal melanonychia. LHS is known to be an entirely benign condition with no underlying systemic abnormalities or malignant predisposition. However, it is very important to make a differential diagnosis with other mucocutaneous pigmentary disorders which require detailed examination, treatment and follow up. LHS is seen very rarely and to our knowledge, approximately 100 cases have been described in the literature, to date. There are only seven cases reported from the our country, based on the literature search in PubMed and Turkish Dermatological journals, avaliable on the web. Herein we report a 54-year-old woman diagnosed as having LHS, with hyperpigmented macular lesions of the tongue, lip, buccal mucosa, gingiva and palms and soles.

  3. A case report of acute cubital tunnel syndrome caused by venous thrombosis.

    Science.gov (United States)

    Abe, Yoshihiro; Saito, Masahiko

    2015-01-01

    Compression neuropathy of the ulnar nerve at the elbow is well-recognised as cubital tunnel syndrome (CuTS). Many causes of ulnar neuropathy at the elbow have been identified. A previously unreported finding of ulnar nerve compression in the cubital tunnel caused by a thrombosed proximal ulnar recurrent artery vena comitans is described.

  4. Le Syndrome de Denys-Drash, une Cause Rare de Syndrome ...

    African Journals Online (AJOL)

    Dans cet article, nous rapportons le cas d'un syndrome de DD chez un nourrisson de race noire âgé de 6 mois dans l'unité de néphrologie pédiatrique du CHU de Yopougon. Nous discutons `a partir d'une revue de la littérature les principaux aspects diagnostics, thérapeutiques et évolutifs de ce syndrome. Nous insistons ...

  5. Le Syndrome de Denys-Drash, une Cause Rare de Syndrome ...

    African Journals Online (AJOL)

    Résumé Le syndrome de Denys-Drash (DD) est une affection génétique rare due `a la mutation du g`ene WT1, impliqué dans la morphogen`ese des organes génitaux externes et du rein. Il associe un syndrome néphrotique congénital et une ambiguıté sexuelle. Les premiers signes surviennent d`es les 3 premiers mois de ...

  6. Acute coronary syndrome caused by anomalous origin of the right ...

    African Journals Online (AJOL)

    Acute coronar .s' ndmme caused b anomalous art 'in on the rt '/1[ corona!" arler ruin the 10 t sinus 0 ' Valxalva - A. S. Assiri'. y s . . . . to high incidence of Sudden Cardiac Deathfijl Full-spectrum of clinical presentation including origin, myocardial infarction and even sudden death have been described. 6. In 1992, Taylor and ...

  7. Orbital apex syndrome caused by aspergilloma in an ...

    African Journals Online (AJOL)

    a disease of concern, as it is a leading cause of death in patients with haematological malignancies, those who are immuno compromised, and transplant .... sinus mycetoma with orbital involvement in a patient with. AIDS. Bildgebung 1995;62(3):199201. 7. Chandra P, Ahluwalia BK, Chugh TD. Primary orbital aspergilloma ...

  8. Blau syndrome and related genetic disorders causing childhood arthritis.

    Science.gov (United States)

    Becker, Mara L; Rose, Carlos D

    2005-12-01

    Blau Syndrome (BS) is an inheritable disorder characterized by granulomatous polyarthritis, panuveitis, and exanthema. It was described by Edward Blau in 1985, the same year in which Douglas Jabs reported a very similar family. Clinically indistinguishable from early onset sarcoidosis (EOS), both are now known to share a mutated form of caspase recruitment domain-15 (CARD 15), a protein involved in activation of nuclear factor kappa B which is in turn an up-regulator of pro-inflammatory cytokine transcription. An association between BS and EOS was suspected for years given the striking similarities of the core triad (arthritis-uveitis-dermatitis) and a common emerging pattern of systemic involvement. Hence, the familial form (BS) and the sporadic form (EOS) are almost certainly the same illness/defect, inherited in the first and acquired in the second as a result in most cases of a de novo mutation. Another form of granulomatous arthritis with uveitis, Crohn's disease, has also been associated with mutations in CARD 15 (albeit at a different domain) and despite similar phenotypes there are obvious differences including gut inflammation and pyoderma gangrenosum in Crohn's disease. This paper will review the clinical characteristics of these three disorders and their association with mutations in the CARD 15 gene.

  9. Capecitabine caused cardiogenic shock through induction of global takotsubo syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Y-Hassan, Shams, E-mail: shams.younis-hassan@karolinska.se; Tornvall, Per; Törnerud, Mattias; Henareh, Loghman

    2013-01-15

    5-Fluorouracil (5-FU) and its oral pro-drug capecitabine are widely used in oncology for the treatment of various solid tumours, including colorectal cancers. Cardiotoxicity to these drugs is not an uncommon adverse effect and has been reported in 1%–18% of patients. Capecitabine has been reported to trigger mid-apical Takotsubo syndrome (TS). We describe here the case of a 55-year-old man who presented with cardiogenic shock and ECG signs of ST-elevation myocardial infarction. The symptoms began 28 h after the commencement of capecitabine adjuvant therapy, following a radical right-sided hemicolectomy for low-differentiated adenocarcinoma of the caecum. Echocardiography showed severe global left ventricular dysfunction. Cardiac magnetic resonance imaging showed no signs of late gadolinium enhancement. These clinical, cardiac image study findings and the course of the disease with full recovery within one week were consistent with global TS triggered by the adjuvant therapy capecitabine and presenting with a life-threatening cardiogenic shock. Moreover, we have demonstrated the speedy dynamic of the left ventricular wall motion abnormality with global TS at presentation and basal (inverted) TS findings 4 days later on.

  10. Tourette syndrome and comorbid ADHD: causes and consequences.

    Science.gov (United States)

    El Malhany, N; Gulisano, M; Rizzo, R; Curatolo, P

    2015-03-01

    Attention deficit hyperactivity disorder (ADHD) is the most common comorbid condition in patients with Tourette syndrome (TS). The co-occurrence of ADHD and TS is in most cases associated with a higher social and psychopathological impairment. Comorbidity between Tourette and ADHD appears to have a complex and partially known pathogenesis in which genetic, environmental, and neurobiological factors can be implicated. Genetic studies have revealed an involvement of dopaminergic, catecholaminergic, and GABAergic genes that modulated the activity of neurotransmitters. Furthermore, there are a lot of networks implicated in the development of ADHD and TS, involving cortical and striatal areas and basal ganglia. Although a large number of studies tried to find a common pathogenesis, the complex pathways responsible are not clear. The genes implicated in both disorders are currently unidentified, but it is probable that epigenetic factors associated with neural modifications can represent a substrate for the development of the diseases. In this paper, recent advances in neurobiology of ADHD and TS are reviewed, providing a basis for understanding the complex common pathogenesis underlying the frequent co-occurrence of the two conditions and the therapeutic choices.

  11. Myelodysplastic Syndromes (MDS) and autoimmune disorders (AD): cause or consequence?

    Science.gov (United States)

    Braun, Thorsten; Fenaux, Pierre

    2013-12-01

    Myelodysplastic Syndromes (MDS) and Chronic Myelomonocytic Leukemia (CMML) are frequently associated with clinical manifestations of autoimmune disorders (AD) and inflammatory response of the immune system. AD accompanying MDS and CMML include vasculitis, seronegative polyarthritis and neutrophilic dermatosis. Rare AD including relapsing polychondritis is strongly associated with MDS as in a high proportion of those patients MDS is diagnosed during disease course. Antinuclear antibodies (ANA) are frequently found among MDS patients without clinical manifestation of AD. In a subset of patients, MDS and resulting cytopenias appear to be the consequence of auto reactive immunologic activity and may respond to immunosuppressive treatment (IST). Increased release of inflammatory cytokines like tumor necrosis factor-(TNF)-α and interferon (IF)-γ triggers apoptosis of myeloid precursor cells leading to cytopenias. Impaired function of immune cells including cytotoxic, regulatory (Treg), helper (Th17) T cells and NK cells also appears to predict response to IST, outcome and occurrence of AD. Copyright © 2013 Elsevier Ltd. All rights reserved.

  12. Cardiorenal Syndrome Caused by Heart Failure with Preserved Ejection Fraction

    Directory of Open Access Journals (Sweden)

    Chiara Lazzeri

    2011-01-01

    Full Text Available Since cardiorenal dysfunction is usually secondary to multiple factors acting in concert (and not only reduced cardiac output in the present paper we are going to focus on the interrelationship between heart failure with normal ejection fraction and the development of cardiorenal syndrome. The coexistence of renal impairment in heart failure with preserved ejection fraction (CRS type 2 and 4 is common especially in older females with hypertension and/or diabetes. It can be hypothesized that the incidence of this disease association is growing, while clinical trials enrolling these patients are still lacking. The main mechanisms thought to be involved in the pathophysiology of this condition are represented by the increase of intra-abdominal and central venous pressure and the activation of the renin-angiotensin system. Differently from CRS in heart failure with reduced ejection fraction, the involvement of the kidney may be under-diagnosed in patients with heart failure and preserved ejection fraction and the optimal therapeutic strategy in this condition, though challenging, is far to be completely elucidated. Further studies are needed to assess the best therapeutic regimen in patients with renal dysfunction (and worsening and heart failure and preserved ejection fraction.

  13. Cardiorenal Syndrome Caused by Heart Failure with Preserved Ejection Fraction

    Science.gov (United States)

    Lazzeri, Chiara; Valente, Serafina; Tarquini, Roberto; Gensini, Gian Franco

    2011-01-01

    Since cardiorenal dysfunction is usually secondary to multiple factors acting in concert (and not only reduced cardiac output) in the present paper we are going to focus on the interrelationship between heart failure with normal ejection fraction and the development of cardiorenal syndrome. The coexistence of renal impairment in heart failure with preserved ejection fraction (CRS type 2 and 4) is common especially in older females with hypertension and/or diabetes. It can be hypothesized that the incidence of this disease association is growing, while clinical trials enrolling these patients are still lacking. The main mechanisms thought to be involved in the pathophysiology of this condition are represented by the increase of intra-abdominal and central venous pressure and the activation of the renin-angiotensin system. Differently from CRS in heart failure with reduced ejection fraction, the involvement of the kidney may be under-diagnosed in patients with heart failure and preserved ejection fraction and the optimal therapeutic strategy in this condition, though challenging, is far to be completely elucidated. Further studies are needed to assess the best therapeutic regimen in patients with renal dysfunction (and worsening) and heart failure and preserved ejection fraction. PMID:21331316

  14. DRESS Syndrome Caused by Cross-reactivity Between Vancomycin and Subsequent Teicoplanin Administration: A Case Report.

    Science.gov (United States)

    Miyazu, Daisuke; Kodama, Nobuhiro; Yamashita, Daiki; Tanaka, Hirokazu; Inoue, Sachiko; Imakyure, Osamu; Hirakawa, Masaaki; Shuto, Hideki; Kataoka, Yasufumi

    2016-08-30

    BACKGROUND Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a potentially life-threatening syndrome comprising severe skin eruption, fever, eosinophilia, lymphadenopathy, and involvement of internal organs. Here, we describe a case of DRESS syndrome caused by cross-reactivity between vancomycin and subsequent teicoplanin administration. CASE REPORT A 79-year-old male was admitted to our hospital for the treatment of injuries incurred in a traffic accident. Eosinophilia and lung dysfunction appeared after vancomycin administration. These symptoms were improved temporarily by withdrawal of vancomycin and administration of corticosteroid, but exacerbated by subsequent teicoplanin administration. These symptoms disappeared after discontinuation of teicoplanin. Based on comprehensive assessment of the overall clinical course, we judged that DRESS syndrome was induced by cross-reactivity between vancomycin and subsequent teicoplanin administration. Using the European Registry of Severe Cutaneous Adverse Reactions (RegiSCAR) scoring system, we categorized DRESS syndrome related to vancomycin and teicoplanin as "probable." We describe, for the first time, DRESS syndrome (defined using the RegiSCAR scoring system) caused by cross-reactivity between vancomycin and subsequent teicoplanin administration. CONCLUSIONS Clinicians should be aware that DRESS syndrome can be induced by cross-reactivity between vancomycin and teicoplanin.

  15. Staphylococcal Toxic Shock Syndrome Caused By An Intravaginal Product. A Case Report

    Directory of Open Access Journals (Sweden)

    Marton Monica

    2016-01-01

    Full Text Available Staphylococcal toxic shock syndrome (STSS represents a potentially lethal disease, and survival depends primarily on the early initiation of appropriate treatment. As the clinical picture at presentation is usually common, frequently this could lead to misdiagnosis and delays in the initiation of the proper therapy. The case of a 43-years old female who developed a staphylococcal septic shock syndrome caused by a forgotten intravaginal tampon is reported.

  16. Laugier–Hunziker Syndrome: A Rare Cause of Oral and Acral Pigmentation

    OpenAIRE

    Silonie Sachdeva; Shabina Sachdeva; Pranav Kapoor

    2011-01-01

    Laugier-Hunziker syndrome (LHS) is an acquired, benign pigmentary skin condition involving oral cavity including lower lip in the form of brown black macules 1-5 mm in size, frequently associated with longitudinal melanonychia. There is no underlying systemic abnormality or malignant predisposition associated with LHS, and therefore the prognosis is good. Important differential diagnoses include Peutz Jeghers syndrome and Addison′s disease among other causes of oral and acral pigmentation. Tr...

  17. Microtia Reconstruction and Postsurgical Grisel’s Syndrome: A Rare Cause of Torticollis in a Child

    Directory of Open Access Journals (Sweden)

    Jay Ching Chieh Wang, MD

    2014-06-01

    Full Text Available Summary: Grisel’s syndrome is an unusual but important cause of torticollis which may be encountered in a pediatric plastic surgery practice, where craniofacial and oropharyngeal surgeries are commonly performed. Grisel’s syndrome is characterized by painful torticollis and limited cervical rotation, and the diagnosis is confirmed via radiologic imaging. Initial management of Grisel’s syndrome is with anti-inflammatories and in some cases antibiotics. In unresolving or recurrent cases, more invasive treatments, such as cervical collar, halo, or surgical arthrodesis, may be considered.

  18. 263 Clinical Features of Drug Rash with Eosinophilia and Systemic Symptoms Syndrome Caused by Antituberculous Medications

    OpenAIRE

    Kim, Sang-Ha; Lee, Shun Nyung; Lee, Seok Jeong; Kim, Chong Whan; Lee, Won Yeon; Yong, Suk Joong; Chul Shin, Kye

    2012-01-01

    Background Drug rash with eosinophilia and systemic symptoms (DRESS) syndrome is one of severe adverse drug reactions. Aromatic anticonvulsants and sulfonamides are the most common causes of DRESS syndrome. However, there have been only 2 case reports of DRESS syndrome induced by antituberculous medication. This study was aimed to observe the clinical features of patients with DRESS syndrome caused by antituberculous medications. Methods We retrospectively revealed the clinical and laboratory...

  19. Quadrilateral Space Syndrome Caused by a Humeral Osteochondroma: A Case Report and Review of Literature

    OpenAIRE

    Cirpar, Meric; Gudemez, Eftal; Cetik, Ozgur; Uslu, Murad; Eksioglu, Fatih

    2006-01-01

    Quadrilateral space syndrome (QSS) is a rare condition in which the posterior humeral circumflex artery and the axillary nerve are entrapped within the quadrilateral space. The main causes of the entrapment are abnormal fibrous bands and hypertrophy of the muscular boundaries. Many other space-occupying causes such as a glenoidal labral cyst or fracture hematoma have been reported in the literature. However, we could not find a report on classical QSS caused by an osteochondroma. The aim of t...

  20. [Orbital compartment syndrome. The most frequent cause of blindness following facial trauma].

    Science.gov (United States)

    Klenk, Gusztáv; Katona, József; Kenderfi, Gábor; Lestyán, János; Gombos, Katalin; Hirschberg, Andor

    2017-09-01

    Although orbital compartment syndrome is a rare condition, it is still the most common cause of blindness following simple or complicated facial fractures. Its pathomechanism is similar to the compartment syndrome in the limb. Little extra fluid (blood, oedema, brain, foreign body) in a non-space yielding space results with increasingly higher pressures within a short period of time. Unless urgent surgical intervention is performed the blocked circulation of the central retinal artery will result irreversible ophthalmic nerve damage and blindness. Aim, material and method: A retrospective analysis of ten years, 2007-2017, in our hospital among those patients referred to us with facial-head trauma combined with blindness. 571 patients had fractures involving the orbit. 23 patients become blind from different reasons. The most common cause was orbital compartment syndrome in 17 patients; all had retrobulbar haematomas as well. 6 patients with retrobulbar haematoma did not develop compartment syndrome. Compartment syndrome was found among patient with extensive and minimal fractures such as with large and minimal haematomas. Early lateral canthotomy and decompression saved 7 patients from blindness. We can not predict and do not know why some patients develop orbital compartment syndrome. Compartment syndrome seems independent from fracture mechanism, comminution, dislocation, amount of orbital bleeding. All patients are in potential risk with midface fractures. We have a high suspicion that orbital compartment syndrome has been somehow missed out in the recommended textbooks of our medical universities and in the postgraduate trainings. Thus compartment syndrome is not recognized. Teaching, training and early surgical decompression is the only solution to save the blind eye. Orv Hetil. 2017; 158(36): 1410-1420.

  1. A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.

    Science.gov (United States)

    Oud, Machteld M; Bonnard, Carine; Mans, Dorus A; Altunoglu, Umut; Tohari, Sumanty; Ng, Alvin Yu Jin; Eskin, Ascia; Lee, Hane; Rupar, C Anthony; de Wagenaar, Nathalie P; Wu, Ka Man; Lahiry, Piya; Pazour, Gregory J; Nelson, Stanley F; Hegele, Robert A; Roepman, Ronald; Kayserili, Hülya; Venkatesh, Byrappa; Siu, Victoria M; Reversade, Bruno; Arts, Heleen H

    2016-01-01

    Endocrine-cerebro-osteodysplasia (ECO) syndrome [MIM:612651] caused by a recessive mutation (p.R272Q) in Intestinal cell kinase (ICK) shows significant clinical overlap with ciliary disorders. Similarities are strongest between ECO syndrome, the Majewski and Mohr-Majewski short-rib thoracic dysplasia (SRTD) with polydactyly syndromes, and hydrolethalus syndrome. In this study, we present a novel homozygous ICK mutation in a fetus with ECO syndrome and compare the effect of this mutation with the previously reported ICK variant on ciliogenesis and cilium morphology. Through homozygosity mapping and whole-exome sequencing, we identified a second variant (c.358G > T; p.G120C) in ICK in a Turkish fetus presenting with ECO syndrome. In vitro studies of wild-type and mutant mRFP-ICK (p.G120C and p.R272Q) revealed that, in contrast to the wild-type protein that localizes along the ciliary axoneme and/or is present in the ciliary base, mutant proteins rather enrich in the ciliary tip. In addition, immunocytochemistry revealed a decreased number of cilia in ICK p.R272Q-affected cells. Through identification of a novel ICK mutation, we confirm that disruption of ICK causes ECO syndrome, which clinically overlaps with the spectrum of ciliopathies. Expression of ICK-mutated proteins result in an abnormal ciliary localization compared to wild-type protein. Primary fibroblasts derived from an individual with ECO syndrome display ciliogenesis defects. In aggregate, our findings are consistent with recent reports that show that ICK regulates ciliary biology in vitro and in mice, confirming that ECO syndrome is a severe ciliopathy.

  2. [Pneumonia caused by Fusobacterium necrophorum: is Lemierre syndrome still current?].

    Science.gov (United States)

    Gülmez, Dolunay; Alp, Sehnaz; Topeli İskit, Arzu; Akova, Murat; Hasçelik, Gülşen

    2011-10-01

    Fusobacterium necrophorum is a non-spore-forming gram-negative anaerobic bacillus that may be the causative agent of localized or severe systemic infections. Systemic infections due to F.necrophorum are known as Lemierre's syndrome, postanginal sepsis or necrobacillosis. The most common clinical course of severe infections in humans is a progressive illness from tonsillitis to septicemia in previously healthy young adults. A septic thrombophlebitis arising from the tonsillar veins and extending into the internal jugular vein leads to septicemia and septic emboli contributing to the development of necrotic abscesses especially in lungs and other tissues such as liver, bone and joints. In this case report, a previously healthy man with pneumonia and empyema due to F.necrophorum has been presented. A 22 year-old man suffering from sore throat for seven days was admitted to emergency department with ongoing fever and dysphagia for three days. On admission he was already taking amoxicillin-clavulanic acid and his complaints were relieved with continuation of therapy to a total of 10 days. However, five days after the cessation of treatment he developed productive cough, fever and generalized myalgia. On physical examination, there were crackles on right lower lung, and chest X-ray revealed pulmonary consolidation on the right middle lobe. Levofloxacin therapy was started based on the diagnosis of pneumonia. While polymorphonuclear leucocytes and intracellular gram-negative bacilli were seen in Gram stained sputum smear, sputum culture was reported as normal flora. Although the patient's status had started to improve with treatment, his condition deteriorated with development of fever and dyspnea. Chest X-ray revealed consolidation, pulmonary infiltrates, pleural effusion and air-fluid level on the right. Meropenem, clarithromycin and linezolid were initiated and a chest tube was inserted with the preliminary diagnosis of necrotizing pneumonia, empyema and type-1

  3. Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality survey.

    Science.gov (United States)

    Butler, Merlin G; Manzardo, Ann M; Heinemann, Janalee; Loker, Carolyn; Loker, James

    2017-06-01

    Prader-Willi syndrome (PWS) is a rare, complex, neurodevelopmental genetic disorder that is associated with hyperphagia and morbid obesity in humans and leads to a shortened life expectancy. This report summarizes the primary causes of death and evaluates mortality trends in a large cohort of individuals with PWS. The US Prader-Willi Syndrome Association (PWSA (USA)) syndrome-specific database of death reports was collected through a cursory bereavement program for PWSA (USA) families using a brief survey created in 1999. Causes of death were descriptively characterized and statistically examined using Cox proportional hazards. A total of 486 deaths were reported (263 males, 217 females, 6 unknown) between 1973 and 2015, with mean age of 29.5 ± 16 years (2 months-67 years); 70% occurred in adulthood. Respiratory failure was the most common cause, accounting for 31% of all deaths. Males were at increased risk for presumed hyperphagia-related accidents/injuries and cardiopulmonary factors compared to females. PWS maternal disomy 15 genetic subtype showed an increased risk of death from cardiopulmonary factors compared to the deletion subtype. These findings highlight the heightened vulnerability to obesity and hyperphagia-related mortality in PWS. Future research is needed to address critical vulnerabilities such as gender and genetic subtype in the cause of death in PWS.Genet Med advance online publication 17 November 2016.

  4. Imaging Diagnosis of Splanchnic Venous Thrombosis

    Directory of Open Access Journals (Sweden)

    S. Rajesh

    2015-01-01

    Full Text Available Splanchnic vein thrombosis (SVT is a broad term that includes Budd-Chiari syndrome and occlusion of veins that constitute the portal venous system. Due to the common risk factors involved in the pathogenesis of these clinically distinct disorders, concurrent involvement of two different regions is quite common. In acute and subacute SVT, the symptoms may overlap with a variety of other abdominal emergencies while in chronic SVT, the extent of portal hypertension and its attendant complications determine the clinical course. As a result, clinical diagnosis is often difficult and is frequently reliant on imaging. Tremendous improvements in vascular imaging in recent years have ensured that this once rare entity is being increasingly detected. Treatment of acute SVT requires immediate anticoagulation. Transcatheter thrombolysis or transjugular intrahepatic portosystemic shunt is used in the event of clinical deterioration. In cases with peritonitis, immediate laparotomy and bowel resection may be required for irreversible bowel ischemia. In chronic SVT, the underlying cause should be identified and treated. The imaging manifestations of the clinical syndromes resulting from SVT are comprehensively discussed here along with a brief review of the relevant clinical features and therapeutic approach.

  5. Vascular diseases of the liver. Clinical Guidelines from the Catalan Society of Digestology and the Spanish Association for the Study of the Liver.

    Science.gov (United States)

    Martín-Llahí, Marta; Albillos, Agustín; Bañares, Rafael; Berzigotti, Annalisa; García-Criado, M Ángeles; Genescà, Joan; Hernández-Gea, Virginia; Llop-Herrera, Elba; Masnou-Ridaura, Helena; Mateo, José; Navascués, Carmen A; Puente, Ángela; Romero-Gutiérrez, Marta; Simón-Talero, Macarena; Téllez, Luis; Turon, Fanny; Villanueva, Cándido; Zarrabeitia, Roberto; García-Pagán, Juan Carlos

    2017-10-01

    Despite their relatively low prevalence, vascular diseases of the liver represent a significant health problem in the field of liver disease. A common characteristic shared by many such diseases is their propensity to cause portal hypertension together with increased morbidity and mortality. These diseases are often diagnosed in young patients and their delayed diagnosis and/or inappropriate treatment can greatly reduce life expectancy. This article reviews the current body of evidence concerning Budd-Chiari syndrome, non-cirrhotic portal vein thrombosis, idiopathic portal hypertension, sinusoidal obstruction syndrome, hepatic vascular malformations in hereditary haemorrhagic telangiectasia, cirrhotic portal vein thrombosis and other rarer vascular diseases including arterioportal fistulas. It also includes a section on the diagnostic imaging of vascular diseases of the liver and their treatment from a haematological standpoint (study of thrombotic diathesis and anticoagulation therapy). All recommendations are based on published studies extracted from PubMed. The quality of evidence and strength of recommendations were rated in accordance with the GRADE system (Grading of Recommendations, Assessment Development and Evaluation). In the absence of sufficient evidence, recommendations were based on the opinion of the committee that produced the guide. Copyright © 2017 Elsevier España, S.L.U., AEEH y AEG. All rights reserved.

  6. [Auto-immune disorders as a possible cause of neuropsychiatric syndromes].

    Science.gov (United States)

    Martinez-Martinez, P; Molenaar, P C; Losen, M; Hoffmann, C; Stevens, J; de Witte, L D; van Amelsvoort, T; van Os, J; Rutten, B P F

    2015-01-01

    Changes that occur in the behaviour of voltage-gated ion channels and ligand-gated receptor channels due to gene mutations or auto-immune attack are the cause of channelopathies in the central and peripheral nervous system. Although the relation between molecular channel defects and clinical symptoms has been explained in the case of many neuromuscular channelopathies, the pathophysiology of auto-immunity in neuropsychiatric syndromes is still unclear. To review recent findings regarding neuronal auto-immune reactions in severe neuropsychiatric syndromes. Using PubMed, we consulted the literature published between 1990 and August 2014 relating to the occurrence of auto-immune antibodies in severe and persistent neuropsychiatric syndromes. Auto-antibodies have only limited access to the central nervous system, but if they do enter the system they can, in some cases, cause disease. We discuss recent findings regarding the occurrence of auto-antibodies against ligand-activated receptor channels and potassium channels in neuropsychiatric and neurological syndromes, including schizophrenia and limbic encephalitis. Although the occurrence of several auto-antibodies in schizophrenia has been confirmed, there is still no proof of a causal relationship in the syndrome. We still have no evidence of the prevalence of auto-immunity in neuropsychiatric syndromes. The discovery that an antibody against an ion channel is associated with some neuropsychiatric disorders may mean that in future it will be possible to treat patients by means of immunosuppression, which could lead to an improvement in a patient's cognitive abilities.

  7. [Orellanus syndrome: a rare cause of acute renal failure].

    Science.gov (United States)

    Wessely, M; Schönermarck, U; Raziorrouh, B; Jung, M C; Samtleben, W

    2007-09-01

    A 26-year-old woman with no contributory medical history became anuric after several days of nausea and vomiting. She was admitted to our hospital with suspected acute renal failure. Laboratory tests revealed greatly elevated BUN and creatinine. There was no evidence of postrenal obstruction, infection or systemic disease. Kidney biopsy showed interstitial nephritis. Further questioning revealed poisoning with a nephrotoxic mushroom of the genus Cortinarius, which the patient had eaten together with her husband nine days before admission. The patient's husband developed anuric renal failure, too, and was admitted to our hospital. Hemodialysis was instituted on day 1. More than one year later, both patients remain on chronic dialysis. Intoxication with mushrooms of the genus Cortinarius should be considered in the differential diagnosis of otherwise unexplained acute renal failure, especially in autumn and late summer. These mushrooms can cause an interstitial nephritis. Once dialysis has to be instituted the prognosis is rather poor: 50 % of these patients develop chronic renal failure. So far there is no causative therapy. In case of chronic renal failure, kidney transplantation is possible.

  8. [Webino syndrome caused by meningovascular syphilis. A rare entity with an unexpected cause].

    Science.gov (United States)

    Rodríguez Calvo de Mora, M; Rodríguez Moreno, G; España Contreras, M

    2014-05-01

    The patient is a 57-year-old obese and hypertensive male. His chief complaints were double vision and dizziness, with mild exodeviation in both eyes in primary gaze position in the ocular motility examination, but more predominant in the left eye. The exotropia was noticeably more evident on the attempted upgaze. On horizontal gaze, the abducting eye deviated fully, but the adducting eye did not cross the midline. Nystagmus in the abducting eye and convergence impairment were found. Pupil size and testing were normal. Ataxia and areflexia were also present. Bilateral internuclear ophthalmoplegia was suspected and imaging and laboratory tests were performed. The CAT scan showed a right occipital hypo-attenuated lesion. In the MRI scan, a mesencephalic subacute ischemic lesion was found, involving the medial rectus sub-nuclei. Blood and cerebrospinal fluid test for syphilis were positive. Bilateral internuclear ophthalmoplegia is a very uncommon -and difficult to diagnose- condition. In the reported case the lesion involved the medial rectus sub-nuclei. This fact could explain the exotropia in the primary gaze position, and supports that is not possible to exclude the involvement of the medial rectus sub-nuclei in the webino syndrome. The rapid identification of the pathology contributed to the better prognosis of the patient. Copyright © 2012 Sociedad Española de Oftalmología. Published by Elsevier Espana. All rights reserved.

  9. Functional Study of Ectodysplasin-A Mutations Causing Non-Syndromic Tooth Agenesis.

    Directory of Open Access Journals (Sweden)

    Wenjing Shen

    Full Text Available Recent studies have demonstrated that ectodysplasin-A (EDA mutations are associated with non-syndromic tooth agenesis. Indeed, we were the first to report three novel EDA mutations (A259E, R289C and R334H in sporadic non-syndromic tooth agenesis. We studied the mechanism linking EDA mutations and non-syndromic tooth agenesis in human embryonic kidney 293T cells and mouse ameloblast-derived LS8 cells transfected with mutant isoforms of EDA. The receptor binding capability of the mutant EDA1 protein was impaired in comparison to wild-type EDA1. Although the non-syndromic tooth agenesis-causing EDA1 mutants possessed residual binding capability, the transcriptional activation of the receptor's downstream target, nuclear factor κB (NF-κB, was compromised. We also analyzed the changes of selected genes in other signaling pathways, such as WNT and BMP, after EDA mutation. We found that non-syndromic tooth agenesis-causing EDA1 mutant proteins upregulate BMP4 (bone morphogenetic protein 4 mRNA expression and downregulate WNT10A and WNT10B (wingless-type MMTV integration site family member 10A and 10B mRNA expression. Our results indicated that non-syndromic tooth agenesis causing EDA mutations (A259E, R289C and R334H were loss-of-function, and suggested that EDA may regulate the expression of WNT10A, WNT10B and BMP4 via NF-κB during tooth development. The results from our study may help to understand the molecular mechanism linking specific EDA mutations with non-syndromic tooth agenesis.

  10. Cubital Tunnel Syndrome Caused by Ulnar Nerve Schwannoma in a Patient with Diabetic Sensorimotor Polyneuropathy.

    Science.gov (United States)

    Liu, Meng-Ta; Lee, Jiunn-Tay; Wang, Chih-Hsin; Lin, Yu-Chieh; Chou, Chung-Hsing

    2016-06-15

    An uncommon ulnar nerve schwannoma should not be neglected in a diabetic patient with cubital tunnel syndrome, the second most common cause of entrapment neuropathy. A 61-year-old woman with a past history of type 2 diabetes mellitus complicated with sensorimotor polyneuropathy presented with progressive numbness and weakness of the left ring and little fingers for one year. A provisional diagnosis of cubital tunnel syndrome was made according to physical examination and electrophysiological studies. The magnetic resonance imaging showed a nodular lesion over ulnar aspect of the left elbow, which was demonstrated to be a schwannoma by histopathology. The patient had moderate improvement after surgical decompression of the left cubital tunnel. This case illustrates the heterogeneous group of pathologies causing peripheral neuropathy. The diagnosis of ulnar nerve schwannoma with cubital tunnel syndrome, superimposed with diabetic sensorimotor polyneuropathy, was made carefully according to clinical manifestations as well as a series of electrophysiological, imaging, and pathological studies.

  11. Origins of the E. coli strain causing an outbreak of hemolytic-uremic syndrome in Germany

    DEFF Research Database (Denmark)

    Rasko, David A; Webster, Dale R; Sahl, Jason W

    2011-01-01

    A large outbreak of diarrhea and the hemolytic-uremic syndrome caused by an unusual serotype of Shiga-toxin-producing Escherichia coli (O104:H4) began in Germany in May 2011. As of July 22, a large number of cases of diarrhea caused by Shiga-toxin-producing E. coli have been reported--3167 without...... the hemolytic-uremic syndrome (16 deaths) and 908 with the hemolytic-uremic syndrome (34 deaths)--indicating that this strain is notably more virulent than most of the Shiga-toxin-producing E. coli strains. Preliminary genetic characterization of the outbreak strain suggested that, unlike most of these strains......, it should be classified within the enteroaggregative pathotype of E. coli....

  12. Diagnosis and treatment guidelines for aberrant portal hemodynamics: The Aberrant Portal Hemodynamics Study Group supported by the Ministry of Health, Labor and Welfare of Japan.

    Science.gov (United States)

    2017-04-01

    Idiopathic portal hypertension (IPH), causing aberrant portal hemodynamics, is a disease with an as yet unidentified cause and no established treatment protocol. The Japanese research group on IPH in Japan was set up in 1975 by the Ministry of Health, Labor and Welfare. Extrahepatic portal obstruction and Budd-Chiari syndrome (BCS) have since been added to the group's research subjects. The aims of the research group are to accurately evaluate the current status of the three diseases in Japan, elucidate their etiology and pathogenesis, and develop new treatments. Due to the long-term efforts of the Japanese research group, aberrant portal hemodynamics has been investigated in a variety of aspects, from epidemiological and pathological studies to molecular biology analyses. As a result, it has been shown that there are abnormal genes in the liver, specific for IPH. In addition, pathological findings of BCS were internationally compared and the difference in findings between Japan and Europe (or North America) has been clarified. Furthermore, it was found that complication rates of hepatocellular carcinoma in BCS were higher in Japan. Based on the research, "Diagnosis and treatment of aberrant portal hemodynamics (2001)", including diagnostic criteria for aberrant portal hemodynamics, was published in 2001. In 2013, it was revised to "Diagnosis and treatment guidelines for aberrant portal hemodynamics (2013)" after the incorporation of diagnosis and treatment in accordance with its current status. © 2017 The Japan Society of Hepatology.

  13. Research advances in non-cirrhotic portal hypertension

    Directory of Open Access Journals (Sweden)

    ZHANG Bojing

    2016-02-01

    Full Text Available Although liver cirrhosis is the most common cause of portal hypertension (PH, about 20% of PH cases are caused by non-cirrhotic reasons, which are referred to as non-cirrhotic portal hypertension (NCPH, with a high incidence rate in developing countries. NCPH is a group of heterogeneous hepatic vascular diseases, including idiopathic portal hypertension (IPH and extrahepatic portal vein obstruction (EHPVO, as well as the rare diseases in clinical practice such as Budd-Chiari syndrome, congenital hepatic fibrosis, and nodular regenerative hyperplasia. The patients with NCPH usually have the symptoms of portal hypertension, such as recurrent variceal bleeding and splenomegaly, but liver function is well preserved in these patients. At present, the diagnosis of NCPH lacks a universally accepted standard and remains a challenge. In clinical practice, the method of exclusion is usually applied for the diagnosis of HCPH, and liver biopsy is performed when necessary to make a confirmed diagnosis. This paper introduces the pathogenesis and pathological manifestations of IPH and EHPVO, as well as the selection of diagnostic methods and therapeutic strategies. If upper gastrointestinal bleeding can be effectively controlled, NCPH is considered to have a relatively good prognosis.

  14. Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

    NARCIS (Netherlands)

    Meester, Josephina A. N.; Southgate, Laura; Stittrich, Anna-Barbara; Venselaar, Hanka; Beekmans, Sander J. A.; den Hollander, Nicolette; Bijlsma, Emilia K.; den Enden, Appolonia Helderman-van; Verheij, Joke B. G. M.; Glusman, Gustavo; Roach, Jared C.; Lehman, Anna; Patel, Millan S.; de Vries, Bert B. A.; Ruivenkamp, Claudia; Itin, Peter; Prescott, Katrina; Clarke, Sheila; Trembath, Richard; Zenker, Martin; Sukalo, Maja; Van Laer, Lut; Loeys, Bart; Wuyts, Wim

    2015-01-01

    Adams-Oliver syndrome (AOS) is a rare developmental disorder characterized by the presence of aplasia cutis congenita (ACC) of the scalp vertex and terminal limb-reduction defects. Cardiovascular anomalies are also frequently observed. Mutations in five genes have been identified as a cause for AOS

  15. Autoimmune hemolytic anemia, as part of Evans' syndrome, caused by cold reactive IgG autoantibodies

    NARCIS (Netherlands)

    Jaarsma, AS; Muis, N; DeGraaf, SSN

    1996-01-01

    We describe a boy with Evans' syndrome, consisting of immune thrombocytopenic purpura at age 2 and autoimmune hemolytic anemia (AIHA) at age 4. AIHA was caused by cold Ige autoantibodies. This is unusual because AIHA is generally associated with either warm IgG antibodies or cold IgM antibodies.

  16. [The hemolytic-uremic syndrome in enterocolitis caused by Campylobacter jejuni].

    Science.gov (United States)

    Dolezel, Z; Stejskal, J; Dostálková, D

    1993-11-01

    In the submitted case-history the authors describe the clinical course of haemolytic-uraemic syndrome (HUS) during Campylobacter infection in a two-year-old boy. On the described case the authors wish to confirm that in the manifestation of HUS in childhood not only infections caused by the usual microbial agents can participate but also Campylobacter jejuni.

  17. Travel-related Streptococcal toxic shock syndrome caused by emm type 78 Streptococcus pyogenes.

    Science.gov (United States)

    Tappe, Dennis; Schulze, Marco H; van der Linden, Mark; Ziegler, Uwe; Müller, Andreas; Stich, August

    2011-08-01

    Streptococcal toxic shock syndrome is a serious health problem in developed and developing countries. We here report a case of severe protracted disease after a minor skin infection in a young traveler returning from West Malaysia which was caused by an unusual emm-type strain harboring speG and smeZ superantigen genes.

  18. The spectrum of mutations in UBE3A causing Angelman syndrome

    NARCIS (Netherlands)

    P. Fang (Ping); E. Lev-Lehman (Efrat); T.-F. Tsai (Ting-Fen); N. Matsuura (Nobuo); S. Benton (Sabrina); J.S. Sutcliffe (James); S.L. Christian (Susan); T. Kubota (Takeo); D.J.J. Halley (Dicky); E.J. Meijers-Heijboer (Hanne); S. Langlois (Sylvie); J.M. Graham (John); J. Beuten (Joke); P.J. Willems (Patrick); A.M. Ledbetter (Andrew M.); L. Beaudet (Lucille)

    1999-01-01

    textabstractAngelman syndrome (AS) is characterized by mental retardation, absence of speech, seizures and motor dysfunction. AS is caused by maternal deletions for chromosome 15q11-q13, paternal uniparental disomy (UPD), imprinting defects or loss-of-function mutations in the UBE3A locus which

  19. Extreme sensitivity to ultraviolet light in the fungal pathogen causing white-nose syndrome of bats

    Science.gov (United States)

    Jonathan M. Palmer; Kevin P. Drees; Jeffrey T. Foster; Daniel L. Lindner

    2018-01-01

    Bat white-nose syndrome (WNS), caused by the fungal pathogen Pseudogymnoascus destructans, has decimated North American hibernating bats since its emergence in 2006. Here, we utilize comparative genomics to examine the evolutionary history of this pathogen in comparison to six closely related nonpathogenic species....

  20. Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations

    NARCIS (Netherlands)

    Fergelot, Patricia; Van Belzen, Martine; Van Gils, Julien; Afenjar, Alexandra; Armour, Christine M.; Arveiler, Benoit; Beets, Lex; Burglen, Lydie; Busa, Tiffany; Collet, Marie; Deforges, Julie; de Vries, Bert B A; Dominguez Garrido, Elena; Dorison, Nathalie; Dupont, Juliette; Francannet, Christine; Garciá-Minaúr, Sixto; Gabau Vila, Elisabeth; Gebre-Medhin, Samuel; Gener Querol, Blanca; Geneviève, David; Gérard, Marion; Gervasini, Cristina Giovanna; Goldenberg, Alice; Josifova, Dragana; Lachlan, Katherine; Maas, Saskia; Maranda, Bruno; Moilanen, Jukka L.; Nordgren, Ann; Parent, Philippe; Rankin, Julia; Reardon, Willie; Rio, Marlène; Roume, Joëlle; Shaw, Adam; Smigiel, Robert; Sojo, Amaia; Solomon, Benjamin; Stembalska, Agnieszka; Stumpel, Constance; Suarez, Francisco; Terhal, Paulien|info:eu-repo/dai/nl/304815861; Thomas, Simon; Touraine, Renaud; Verloes, Alain; Vincent-Delorme, Catherine; Wincent, Josephine; Peters, Dorien J M; Bartsch, Oliver; Larizza, Lidia; Lacombe, Didier; Hennekam, Raoul C.

    2016-01-01

    Rubinstein-Taybi syndrome (RSTS) is a developmental disorder characterized by a typical face and distal limbs abnormalities, intellectual disability, and a vast number of other features. Two genes are known to cause RSTS, CREBBP in 60% and EP300 in 8-10% of clinically diagnosed cases. Both paralogs

  1. Two Novel Heterozygous Mutations in ERCC8 Cause Cockayne Syndrome in a Chinese Patient.

    Science.gov (United States)

    Cui, Yun-Pu; Chen, Yi-Yu; Wang, Xue-Mei; Wang, Xin-Li; Nan, Xu; Zhao, Hongshan

    2015-09-01

    Cockayne syndrome (MIM #133540, Cockayne syndrome B; 216400, Cockayne syndrome A) is a rare autosomal recessive inherited disease in which the characteristic symptoms are premature aging, cachectic dwarfism, lack of subcutaneous fat, neurological alterations, light sensitivity, and failure to thrive. The mutated gene responsible for this syndrome has been identified as usually either CSA (CKN1, ERCC8) or CSB (ERCC6). In this study, we describe the case of a 7-year-old Chinese boy with characteristic symptoms of Cockayne syndrome A and the conduction of mutation screening of the CSA gene. The patient was diagnosed with Cockayne syndrome in the pediatrics clinic for growth failure and developmental delay. We collected peripheral blood samples of the patient and his parents and then extracted the genomic DNA. DNA samples from control subjects and the patient were subjected to polymerase chain reaction amplification. All exons and the flanking intron-exon boundaries of CSA were amplified; then, the polymerase chain reaction products were directly sequenced for mutation screening. Two novel heterozygous CSA mutations, c.551-2A>C and c.394_398delTTACA, were identified in the patient. The c.551-2A>C mutation originates from his father and changed the splice acceptor site AG to CG, thus possibly causing alternative splicing. The c.394_398delTTACA from his mother caused a frameshift after the amino acid at position 132, thus introducing a premature stop codon in the gene sequence. These mutations extend the mutation spectrum of Cockayne syndrome in the context of Chinese race and provide possibilities of prenatal diagnosis for future offsprings in this family. Copyright © 2015 Elsevier Inc. All rights reserved.

  2. Clinical and radiologic review of uncommon cause of profound iron deficiency anemia: Median arcuate ligament syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Gunduz, Yasemin; Asil, Kiyasrttin; Aksoy, Yakup Ersel; Ayhan, Lacin Tatli [Dept. of Radiology, Sakarya University Medical Faculty, Sakarya (Turkmenistan)

    2014-08-15

    Median arcuate ligament syndrome is an anatomic and clinical entity characterized by dynamic compression of the proximal celiac artery by the median arcuate ligament, which leads to postprandial epigastric pain, vomiting, and weight loss. These symptoms are usually nonspecific and are easily misdiagnosed as functional dyspepsia, peptic ulcer disease, or gastropathy. In this report, we presented a 72-year-old male patient with celiac artery compression syndrome causing recurrent abdominal pain associated with gastric ulcer and iron deficiency anemia. This association is relatively uncommon and therefore not well determined. In addition, we reported the CT angiography findings and three-dimensional reconstructions of this rare case.

  3. Neuroleptic Malignant Syndrome Caused by a Combination of Carbamazepine and Amitriptyline

    Directory of Open Access Journals (Sweden)

    A. Bruce Janati

    2012-01-01

    Full Text Available A 32-year-old female, with a history of secondarily-generalized convulsive epilepsy, mental retardation, and a psychiatric illness, developed neuroleptic malignant syndrome while receiving carbamazepine and amitriptyline concurrently. We hypothesize that the addition of amitriptyline to carbamazepine caused a decrease in the serum level of carbamazepine, resulting in NMS. We conclude that combination therapy with carbamazepine and amitriptyline should be avoided in patients who are predisposed to NMS. The purpose of this paper is to warn physicians against combination therapy with carbamazepine and tricyclic antidepressants which may be conducive to neuroleptic malignant syndrome in susceptible patients.

  4. A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome.

    Science.gov (United States)

    Wiseman, Frances K; Al-Janabi, Tamara; Hardy, John; Karmiloff-Smith, Annette; Nizetic, Dean; Tybulewicz, Victor L J; Fisher, Elizabeth M C; Strydom, André

    2015-09-01

    Down syndrome, which arises in individuals carrying an extra copy of chromosome 21, is associated with a greatly increased risk of early-onset Alzheimer disease. It is thought that this risk is conferred by the presence of three copies of the gene encoding amyloid precursor protein (APP)--an Alzheimer disease risk factor--although the possession of extra copies of other chromosome 21 genes may also play a part. Further study of the mechanisms underlying the development of Alzheimer disease in people with Down syndrome could provide insights into the mechanisms that cause dementia in the general population.

  5. DRESS syndrome secondary to ibuprofen as a cause of hyperacute liver failure

    Directory of Open Access Journals (Sweden)

    Valentín Roales-Gómez

    2014-08-01

    Full Text Available Acute liver failure has a high mortality and its most frequent cause in Spain is viral infection. In this article, we present a case of fulminant liver failure. The failure is secondary to an idiosyncratic reaction to ibuprofen, an entity included in the DRESS syndrome. This syndrome plays a key role in the differential diagnosis of acute liver failure, since its unfortunate course often requires liver transplantation as the only useful therapeutic weapon. This case illustrates the need for an efficient coordination between hospitals as a key factor for improving the prognosis.

  6. Severe Postpartum Headache and Hypertension Caused by Reversible Cerebral Vasoconstriction Syndrome: A Case Report.

    Science.gov (United States)

    McIlroy, Ed; Sethuraman, Rajamani; Woograsingh, Reshma; Nelson-Piercy, Catherine; Gilbert-Kawai, Edward

    2017-07-10

    Reversible cerebrovascular vasoconstriction syndrome is an uncommon condition that presents as severe headache and hypertension. Recent literature suggests a 1% incidence in postpartum headache cases. It can cause subarachnoid hemorrhages, cerebral ischemia, and seizures. It is often misdiagnosed as postdural puncture headache or preeclampsia. In this case, a postpartum woman, who had received epidural anesthesia for labor, presented 5 days postpartum with severe headache that did not resolve with an epidural blood patch. She then became more hypertensive and suffered a grand mal seizure. When treatment for eclampsia failed to resolve her symptoms, magnetic resonance angiography was performed. It demonstrated the pathognomic signs of reversible cerebrovascular vasoconstriction syndrome. Her symptoms resolved with nimodipine.

  7. Laugier-hunziker syndrome: a rare cause of oral and acral pigmentation.

    Science.gov (United States)

    Sachdeva, Silonie; Sachdeva, Shabina; Kapoor, Pranav

    2011-01-01

    Laugier-Hunziker syndrome (LHS) is an acquired, benign pigmentary skin condition involving oral cavity including lower lip in the form of brown black macules 1-5 mm in size, frequently associated with longitudinal melanonychia. There is no underlying systemic abnormality or malignant predisposition associated with LHS, and therefore the prognosis is good. Important differential diagnoses include Peutz Jeghers syndrome and Addison's disease among other causes of oral and acral pigmentation. Treatment is sought mainly for cosmetic reasons and Q-switched Nd-Yag laser/ Q-switched alexandrite therapy and cryosurgery have been tried with varying success.

  8. Laugier-hunziker syndrome: A rare cause of oral and acral pigmentation

    Directory of Open Access Journals (Sweden)

    Silonie Sachdeva

    2011-01-01

    Full Text Available Laugier-Hunziker syndrome (LHS is an acquired, benign pigmentary skin condition involving oral cavity including lower lip in the form of brown black macules 1-5 mm in size, frequently associated with longitudinal melanonychia. There is no underlying systemic abnormality or malignant predisposition associated with LHS, and therefore the prognosis is good. Important differential diagnoses include Peutz Jeghers syndrome and Addison′s disease among other causes of oral and acral pigmentation. Treatment is sought mainly for cosmetic reasons and Q-switched Nd-Yag laser/ Q-switched alexandrite therapy and cryosurgery have been tried with varying success.

  9. Terson syndrome caused by ventricular hemorrhage associated with moyamoya disease--case report.

    Science.gov (United States)

    Arakawa, Y; Goto, Y; Ishii, A; Ueno, Y; Kikuta, K; Yoshizumi, H; Katsuta, H; Kenmochi, S; Yamagata, S

    2000-09-01

    A 24-year-old female presented with Terson syndrome secondary to bilateral ventricular hemorrhage as a complication of moyamoya disease. Ophthalmoscopy and magnetic resonance imaging clearly demonstrated vitreous hemorrhage in the left eye globe. Various visual symptoms are associated with moyamoya disease, almost all of which result from ischemic lesions in the visual cortex and optic pathways. In this case, the visual disturbance was caused by Terson syndrome secondary to ventricular hemorrhage. Close ophthalmological and radiological evaluation is mandatory even in patients with moyamoya disease and hemorrhagic manifestation located in the intracerebral, subarachnoid, or intraventricular space.

  10. A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome

    Science.gov (United States)

    Wiseman, Frances K.; Al-Janabi, Tamara; Hardy, John; Karmiloff-Smith, Annette; Nizetic, Dean; Tybulewicz, Victor L. J.; Fisher, Elizabeth M. C.; Strydom, André

    2015-01-01

    Down syndrome, which arises in individuals carrying an extra copy of chromosome 21, is associated with a greatly increased risk of early-onset Alzheimer disease. It is thought that this risk is conferred by the presence of three copies of the gene encoding amyloid precursor protein (APP) — an Alzheimer disease risk factor — although the possession of extra copies of other chromosome 21 genes may also play a part. Further study of the mechanisms underlying the development of Alzheimer disease in people with Down syndrome could provide insights into the mechanisms that cause dementia in the general population. PMID:26243569

  11. Causes of Death in Prader-Willi Syndrome: Prader-Willi Syndrome Association (USA) 40-Year Mortality Survey

    Science.gov (United States)

    Butler, Merlin G.; Manzardo, Ann M.; Heinemann, Janalee; Loker, Carolyn; Loker, James

    2016-01-01

    Background Prader-Willi syndrome (PWS) is a rare complex neurodevelopmental genetic disorder that is associated with hyperphagia and morbid obesity in humans leading to a shortened life expectancy. This report summarizes the primary causes of death and evaluates mortality trends in a large cohort of individuals with PWS. Methods PWSA (USA) mortality syndrome-specific database of death reports was collected through a cursory bereavement program for PWSA(USA) families using a brief survey created in 1999. Causes of death were descriptively characterized and statistically examined using Cox Proportional Hazards. Results A total of 486 deaths were reported (263 males, 217 females, 6 unknown) between 1973 and 2015 with mean age of 29.5 ± 16 years (2mo–67yrs), 70% occurring in adulthood. Respiratory failure was the most common cause accounting for 31% of all deaths. Males were at increased risk for presumed hyperphagia-related accidents/injuries compared to females and cardiopulmonary factors. PWS maternal disomy 15 genetic subtype showed an increased risk of death from cardiopulmonary factors compared to the deletion subtype. Conclusions These findings highlight the heightened vulnerability towards obesity and hyperphagia-related mortality in PWS. Future research is needed to address critical vulnerabilities such as gender and genetic subtype in the cause of death in PWS. PMID:27854358

  12. Carbohydrate mimicry between human ganglioside GM1 and Campylobacter jejuni lipooligosaccharide causes Guillain-Barre syndrome.

    Science.gov (United States)

    Yuki, Nobuhiro; Susuki, Keiichiro; Koga, Michiaki; Nishimoto, Yukihiro; Odaka, Masaaki; Hirata, Koichi; Taguchi, Kyoji; Miyatake, Tadashi; Furukawa, Koichi; Kobata, Tetsuji; Yamada, Mitsunori

    2004-08-03

    Molecular mimicry between microbial and self-components is postulated as the mechanism that accounts for the antigen and tissue specificity of immune responses in postinfectious autoimmune diseases. Little direct evidence exists, and research in this area has focused principally on T cell-mediated, antipeptide responses, rather than on humoral responses to carbohydrate structures. Guillain-Barré syndrome, the most frequent cause of acute neuromuscular paralysis, occurs 1-2 wk after various infections, in particular, Campylobacter jejuni enteritis. Carbohydrate mimicry [Galbeta1-3GalNAcbeta1-4(NeuAcalpha2-3)Galbeta1-] between the bacterial lipooligosaccharide and human GM1 ganglioside is seen as having relevance to the pathogenesis of Guillain-Barré syndrome, and conclusive evidence is reported here. On sensitization with C. jejuni lipooligosaccharide, rabbits developed anti-GM1 IgG antibody and flaccid limb weakness. Paralyzed rabbits had pathological changes in their peripheral nerves identical with those present in Guillain-Barré syndrome. Immunization of mice with the lipooligosaccharide generated a mAb that reacted with GM1 and bound to human peripheral nerves. The mAb and anti-GM1 IgG from patients with Guillain-Barré syndrome did not induce paralysis but blocked muscle action potentials in a muscle-spinal cord coculture, indicating that anti-GM1 antibody can cause muscle weakness. These findings show that carbohydrate mimicry is an important cause of autoimmune neuropathy.

  13. Post-traumatic arachnoiditis: an unusual cause of Brown-Sequard syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Ramli, N.; Merican, A.M.; Lim, A.; Kumar, G. [Depts. of Radiology and Orthopaedic Surgery, University Malaya Medical Centre, Kuala Lumpur (Malaysia)

    2001-10-01

    Brown-Sequard syndrome (BSS) is a unilateral cord injury characterised by an ipsilateral motor deficit with contralateral pain and temperature hypoaesthesia. Although there are a variety of causes, the majority of cases are generally of neoplastic origin or are traumatic in origin. We describe a rare cause of Brown-Sequard syndrome as a result of post-traumatic arachnoiditis. Magnetic resonance imaging with the use of thin-slice high-resolution constructive interference in steady state (CISS) and T2-weighted spin-echo sequence were used to demonstrate the cause and appearance of the lesion in the spinal canal and was useful in the assessment and management of the patient. This case illustrates the usefulness of the CISS sequence in MRI for elucidating arachnoiditis. (orig.)

  14. Popliteal vascular entrapment syndrome caused by a rare anomalous slip of the lateral head of the gastrocnemius muscle

    Energy Technology Data Exchange (ETDEWEB)

    Liu, Patrick T.; Moyer, Adrian C.; Huettl, Eric A. [Mayo Clinic Scottsdale, Department of Radiology, Scottsdale (United States); Fowl, Richard J.; Stone, William M. [Mayo Clinic Scottsdale, Department of Vascular Surgery, Scottsdale (United States)

    2005-06-01

    Popliteal vascular entrapment syndrome can result in calf claudication, aneurysm formation, distal arterial emboli, or popliteal vessel thrombosis. The most commonly reported causes of this syndrome have been anomalies of the medial head of the gastrocnemius muscle as it relates to the course of the popliteal artery. We report two cases of rare anomalous slips of the lateral head of the gastrocnemius muscle causing popliteal vascular entrapment syndrome. (orig.)

  15. Hypokalemic rhabdomyolysis due to watery diarrhea, hypokalemia, achlorhydria (WDHA) syndrome caused by vipoma.

    Science.gov (United States)

    Kibria, Rizwan; Ahmed, Sameer; Ali, Syed A; Barde, Christopher J

    2009-07-01

    Mild hypokalemia is common and encountered in a multitude of diseases, but severe hypokalemia leading to rhabdomyolysis is relatively rare. The watery diarrhea, hypokalemia, achlorhydria (WDHA) syndrome caused by vasoactive intestinal polypeptide (VIP)-producing tumors, is an extremely rare cause of hypokalemic rhabdomyolysis and the literature is limited to one case report. We report a second case of an adult who presented with rhabdomyolysis due to severe hypokalemia. Further evaluation revealed that he had a VIP-producing pancreatic neuroendocrine tumor (NET), which was the cause of his hypokalemic rhabdomyolysis. Although rare in occurrence, a high index of suspicion is of paramount importance for establishing the correct diagnosis and treatment.

  16. Hepatitis E as a Cause of Acute Jaundice Syndrome in Northern Uganda, 2010–2012

    Science.gov (United States)

    Gerbi, Gemechu B.; Williams, Roxanne; Bakamutumaho, Barnabas; Liu, Stephen; Downing, Robert; Drobeniuc, Jan; Kamili, Saleem; Xu, Fujie; Holmberg, Scott D.; Teshale, Eyasu H.

    2015-01-01

    Hepatitis E virus (HEV) is a common cause of acute viral hepatitis in developing countries; however, its contribution to acute jaundice syndrome is not well-described. A large outbreak of hepatitis E occurred in northern Uganda from 2007 to 2009. In response to this outbreak, acute jaundice syndrome surveillance was established in 10 district healthcare facilities to determine the proportion of cases attributable to hepatitis E. Of 347 acute jaundice syndrome cases reported, the majority (42%) had hepatitis E followed by hepatitis B (14%), malaria (10%), hepatitis C (5%), and other/unknown (29%). Of hepatitis E cases, 72% occurred in Kaboong district, and 68% of these cases occurred between May and August of 2011. Residence in Kaabong district was independently associated with hepatitis E (adjusted odds ratio = 13; 95% confidence interval = 7–24). The findings from this surveillance show that an outbreak and sporadic transmission of hepatitis E occur in northern Uganda. PMID:25448237

  17. Multimodality imaging of hepato-biliary disorders in pregnancy: a pictorial essay.

    Science.gov (United States)

    Ong, Eugene M W; Drukteinis, Jennifer S; Peters, Hope E; Mortelé, Koenraad J

    2009-09-01

    Hepato-biliary disorders are rare complications of pregnancy, but they may be severe, with high fetal and maternal morbidity and mortality. Imaging is, therefore, essential in the rapid diagnosis of some of these conditions so that appropriate, life-saving treatment can be administered. This pictorial essay illustrates the multimodality imaging features of pregnancy-induced hepato-biliary disorders, such as acute fatty liver of pregnancy, preeclamsia and eclampsia, and HELLP syndrome, as well as those conditions which occur in pregnancy but are not unique to it, such as viral hepatitis, Budd-Chiari syndrome, focal hepatic lesions, biliary sludge, cholecystolithiasis, and choledocholithiasis.

  18. Refeeding syndrome as an unusual cause of anion gap metabolic acidosis.

    Science.gov (United States)

    Singla, Manish; Perry, Alexandra; Lavery, Eric

    2012-11-01

    Refeeding syndrome is characterized by hypophosphatemia in the setting of malnutrition. It is commonly seen in patients with anorexia, alcoholism, or malignancy, and it is often a missed diagnosis. Because of the potential morbidity associated with missing the diagnosis of refeeding syndrome, it is important to monitor for this disease in any malnourished patient. We present a case of a 49-year-old male with chronic alcohol abuse who presented for alcohol detoxification and was found to have low phosphate, potassium, and magnesium on presentation, in addition to an elevated anion gap of unclear etiology. After extensive workup to evaluate the cause of his elevated anion gap and worsening of his electrolyte abnormalities despite replenishment, it was felt his symptoms were a result of refeeding syndrome. After oral intake was held and aggressive electrolyte replenishment was performed for 24 hours, the patient's anion gap closed and his electrolyte levels stabilized. This case demonstrates a unique presentation of refeeding syndrome given the patient's profound metabolic acidosis that provided a clue toward his eventual diagnosis. The standard workup for an anion gap metabolic acidosis was negative, and it was not until his refeeding syndrome had been treated that the anion gap closed.

  19. Mirror syndrome in a Chinese hospital: diverse causes and maternal fetal features.

    Science.gov (United States)

    Zhao, Yang; Liu, Guoli; Wang, Jianliu; Yang, Juehong; Shen, Danhua; Zhang, Xiaohong

    2013-02-01

    To investigate the clinical characteristics of mirror syndrome. Retrospective analysis of cases with mirror syndrome. Data of clinical manifestations, laboratory examinations, placental morphology, treatment and prognosis of these patients were obtained and studied. Five cases satisfying the inclusion criteria for mirror syndrome were identified from our hospital database. The incidence of the condition was 0.0154% in China. Mirror syndrome was associated with Rhesus isoimmunization, intrauterine parvovirus B19 infection, fetal neuroblastoma, fetal heart malformation and unknown cause respectively. Fetal symptoms were multi-hydrocele and fetal heart failure complicating fetal hydrops. All of the cases manifested maternal hydrops and hemodilution, the other most common symptoms included hypertension, proteinuria, hypoalbuminemia, anemia, thrombocytopenia and elevated uric acid levels. Fetal outcomes in this study were poor with a perinatal mortality rate of 100%. Placentomegaly was observed in most cases and placental morphology showed villous edema, increased intervillous fibrin deposition and one rare case of fetal adrenal neuroblastoma. Resolution of maternal symptoms was noted within 3-30 days after delivery. Mirror syndrome is associated with a substantially increased risk of fetal death and severe maternal complications. Early diagnosis of this condition during pregnancy is crucial for providing proper treatments and achieving better clinical outcomes.

  20. Severe Cenani-Lenz syndrome caused by loss of LRP4 function.

    Science.gov (United States)

    Kariminejad, Ariana; Stollfuß, Barbara; Li, Yun; Bögershausen, Nina; Boss, Karin; Hennekam, Raoul C M; Wollnik, Bernd

    2013-06-01

    Limb patterning and growth are complex embryonic processes in which the elaborately orchestrated interplay of diverse endocrine and paracrine factors is crucial to limb integrity. LRP4 is a lipoprotein receptor known for its regulatory effects on LRP5- and LRP6-mediated Wnt signaling, a pathway that plays a pivotal role in limb development. Recessive mutations in LRP4 have been shown to cause Cenani-Lenz syndrome, which is characterized by severe limb malformations, an unusual face, and renal abnormalities. We report on a child with severe Cenani-Lenz syndrome caused by a novel homozygous nonsense mutation in LRP4. The severity of the phenotype in a patient with absent residual LRP4 function may point to a genotype-phenotype correlation. Copyright © 2013 Wiley Periodicals, Inc.

  1. Metabolic Syndrome and Insulin Resistance: Underlying Causes and Modification by Exercise Training

    Science.gov (United States)

    Roberts, Christian K.; Hevener, Andrea L.; Barnard, R. James

    2014-01-01

    Metabolic syndrome (MS) is a collection of cardiometabolic risk factors that includes obesity, insulin resistance, hypertension, and dyslipidemia. Although there has been significant debate regarding the criteria and concept of the syndrome, this clustering of risk factors is unequivocally linked to an increased risk of developing type 2 diabetes and cardiovascular disease. Regardless of the true definition, based on current population estimates, nearly 100 million have MS. It is often characterized by insulin resistance, which some have suggested is a major underpinning link between physical inactivity and MS. The purpose of this review is to: (i) provide an overview of the history, causes and clinical aspects of MS, (ii) review the molecular mechanisms of insulin action and the causes of insulin resistance, and (iii) discuss the epidemiological and intervention data on the effects of exercise on MS and insulin sensitivity. PMID:23720280

  2. Classic Bartter syndrome: a rare cause of failure to thrive in a child

    OpenAIRE

    Vieira, Helena; Mendes, Leonor; Mendes, Patricia; da Silva, José Esteves

    2012-01-01

    Bartter syndrome is a group of rare autosomal-recessive disorders caused by a defect in distal tubule transport of sodium and chloride. Blood gases and plasma electrolytes raise suspicion of this diagnosis and the definitive diagnosis is made by genetic study. Early treatment improves prognosis. The authors present the case of an 11-month-old child with early failure to thrive and severe regurgitation. Blood gases revealed hypochloraemic metabolic alkalosis, hyponatraemia and hypokalaemia. Bl...

  3. Gouty wrist arthritis causing carpal tunnel syndrome--a case report.

    Science.gov (United States)

    Sikkandar, M F; Sapuan, J; Singh, R; Abdullah, S

    2012-06-01

    A 63 year old male with a history of gout and hypertension presented with carpal tunnel syndrome. He gave history of bilateral wrist pain associated with numbness over the median nerve distribution of the hand. Tinels sign and Phalens test were positive with no obvious thenar muscle wasting on examination. Tophaceous deposits in the flexor tendons and within the synovium of the wrist joint was seen during surgery and this established gout as the cause of median nerve entrapment in this patient.

  4. Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p.

    Science.gov (United States)

    Shapiro, Adam J; Weck, Karen E; Chao, Kay C; Rosenfeld, Margaret; Nygren, Anders O H; Knowles, Michael R; Leigh, Margaret W; Zariwala, Maimoona A

    2014-10-01

    Cri du chat syndrome (CdCS) and primary ciliary dyskinesia (PCD) are rare diseases that present with frequent respiratory symptoms. PCD can be caused by hemizygous DNAH5 mutation in combination with a 5p segmental deletion attributable to CdCS on the opposite chromosome. Chronic oto-sino-pulmonary symptoms or organ laterality defects in CdCS should prompt an evaluation for PCD. Copyright © 2014 Elsevier Inc. All rights reserved.

  5. Superior cerebellar aneurysm causing subarachnoid haemorrhage in a 17-year-old with alagille syndrome.

    LENUS (Irish Health Repository)

    O'Connell, David

    2012-04-01

    Alagille syndrome is a rare autosomal dominant condition characterised by mutation in Jagged1 gene. Intracranial aneurysms may be seen in this condition and may present as subarachnoid hemorrhage. We describe the first case of superior cerebellar aneurysm rupture causing WFNS grade 1 subarachnoid haemorrhage in a 17-year-old girl. The clinical condition and management of this rare occurrence is discussed with a review of literature.

  6. Unusual pharyngeal pain caused by acute coronary syndrome: a report of three cases

    Directory of Open Access Journals (Sweden)

    Takashi Anzai

    2017-01-01

    Full Text Available Most patients complaining of pharyngeal pain have an upper respiratory tract infection or other local explanation for their pain. Here we show 3 rare cases of patients visiting our Otorhinolaryngology Department who had an initial symptom of pharyngeal pain caused by acute coronary syndrome (ACS. An electrocardiogram and a cardiac biomarker test are recommended to exclude ACS with atypical presentation in cases without pharyngolaryngeal findings comparable to pharyngeal pain.

  7. Discovery of a Genetic Metabolic Cause for Mauriac Syndrome in Type 1 Diabetes.

    Science.gov (United States)

    MacDonald, Michael J; Hasan, Noaman M; Ansari, Israr-Ul H; Longacre, Melissa J; Kendrick, Mindy A; Stoker, Scott W

    2016-07-01

    A mechanistic cause for Mauriac syndrome, a syndrome of growth failure and delayed puberty associated with massive liver enlargement from glycogen deposition in children with poorly controlled type 1 diabetes, is unknown. We discovered a mutation in the catalytic subunit of liver glycogen phosphorylase kinase in a patient with Mauriac syndrome whose liver extended into his pelvis. Glycogen phosphorylase kinase activates glycogen phosphorylase, the enzyme that catalyzes the first step in glycogen breakdown. We show that the mutant subunit acts in a dominant manner to completely inhibit glycogen phosphorylase kinase enzyme activity and that this interferes with glycogenolysis causing increased levels of glycogen in human liver cells. It is known that even normal blood glucose levels physiologically inhibit glycogen phosphorylase to diminish glucose release from the liver when glycogenolysis is not needed. The patient's mother possessed the same mutant glycogen phosphorylase kinase subunit, but did not have diabetes or hepatomegaly. His father had childhood type 1 diabetes in poor glycemic control, but lacked the mutation and had neither hepatomegaly nor growth failure. This case proves that the effect of a mutant enzyme of glycogen metabolism can combine with hyperglycemia to directly hyperinhibit glycogen phosphorylase, in turn blocking glycogenolysis causing the massive liver in Mauriac disease. © 2016 by the American Diabetes Association. Readers may use this article as long as the work is properly cited, the use is educational and not for profit, and the work is not altered.

  8. HANAC Syndrome Col4a1 Mutation Causes Neonate Glomerular Hyperpermeability and Adult Glomerulocystic Kidney Disease

    Science.gov (United States)

    Chen, Zhiyong; Migeon, Tiffany; Verpont, Marie-Christine; Zaidan, Mohamad; Sado, Yoshikazu; Kerjaschki, Dontscho; Ronco, Pierre

    2016-01-01

    Hereditary angiopathy, nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is an autosomal dominant syndrome caused by mutations in COL4A1 that encodes the α1 chain of collagen IV, a major component of basement membranes. Patients present with cerebral small vessel disease, retinal tortuosity, muscle cramps, and kidney disease consisting of multiple renal cysts, chronic kidney failure, and sometimes hematuria. Mutations producing HANAC syndrome localize within the integrin binding site containing CB3[IV] fragment of the COL4A1 protein. To investigate the pathophysiology of HANAC syndrome, we generated mice harboring the Col4a1 p.Gly498Val mutation identified in a family with the syndrome. Col4a1 G498V mutation resulted in delayed glomerulogenesis and podocyte differentiation without reduction of nephron number, causing albuminuria and hematuria in newborns. The glomerular defects resolved within the first month, but glomerular cysts developed in 3-month-old mutant mice. Abnormal structure of Bowman’s capsule was associated with metalloproteinase induction and activation of the glomerular parietal epithelial cells that abnormally expressed CD44, α-SMA, ILK, and DDR1. Inflammatory infiltrates were observed around glomeruli and arterioles. Homozygous Col4a1 G498V mutant mice additionally showed dysmorphic papillae and urinary concentration defects. These results reveal a developmental role for the α1α1α2 collagen IV molecule in the embryonic glomerular basement membrane, affecting podocyte differentiation. The observed association between molecular alteration of the collagenous network in Bowman’s capsule of the mature kidney and activation of parietal epithelial cells, matrix remodeling, and inflammation may account for glomerular cyst development and CKD in patients with COL4A1-related disorders. PMID:26260163

  9. Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.

    Science.gov (United States)

    Gripp, Karen W; Robbins, Katherine M; Sobreira, Nara L; Witmer, P Dane; Bird, Lynne M; Avela, Kristiina; Makitie, Outi; Alves, Daniela; Hogue, Jacob S; Zackai, Elaine H; Doheny, Kimberly F; Stabley, Deborah L; Sol-Church, Katia

    2015-02-01

    Lateral meningocele syndrome (LMS, OMIM%130720), also known as Lehman syndrome, is a very rare skeletal disorder with facial anomalies, hypotonia and meningocele-related neurologic dysfunction. The characteristic lateral meningoceles represent the severe end of the dural ectasia spectrum and are typically most severe in the lower spine. Facial features of LMS include hypertelorism and telecanthus, high arched eyebrows, ptosis, midfacial hypoplasia, micrognathia, high and narrow palate, low-set ears and a hypotonic appearance. Hyperextensibility, hernias and scoliosis reflect a connective tissue abnormality, and aortic dilation, a high-pitched nasal voice, wormian bones and osteolysis may be present. Lateral meningocele syndrome has phenotypic overlap with Hajdu-Cheney syndrome. We performed exome resequencing in five unrelated individuals with LMS and identified heterozygous truncating NOTCH3 mutations. In an additional unrelated individual Sanger sequencing revealed a deleterious variant in the same exon 33. In total, five novel de novo NOTCH3 mutations were identified in six unrelated patients. One had a 26 bp deletion (c.6461_6486del, p.G2154fsTer78), two carried the same single base pair insertion (c.6692_93insC, p.P2231fsTer11), and three individuals had a nonsense point mutation at c.6247A > T (pK2083*), c.6663C > G (p.Y2221*) or c.6732C > A, (p.Y2244*). All mutations cluster into the last coding exon, resulting in premature termination of the protein and truncation of the negative regulatory proline-glutamate-serine-threonine rich PEST domain. Our results suggest that mutant mRNA products escape nonsense mediated decay. The truncated NOTCH3 may cause gain-of-function through decreased clearance of the active intracellular product, resembling NOTCH2 mutations in the clinically related Hajdu-Cheney syndrome and contrasting the NOTCH3 missense mutations causing CADASIL. © 2014 Wiley Periodicals, Inc.

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

    Science.gov (United States)

    Bartek, Jiri; Abedi-Valugerdi, Golbarg; Liska, Jan; Nyström, Harriet; Andresen, Morten; Mathiesen, Tiit

    2013-07-01

    We report a patient with intracranial hemorrhage secondary to venous hypertension as a result of a giant aortic pseudoaneurysm that compressed the superior vena cava and caused obstruction of the venous return from the brain. To our knowledge, this is the first patient reported to have an intracranial hemorrhage secondary to a superior vena cava syndrome. The condition appears to be caused by a reversible transient rise in intracranial pressure, as a result of compression of the venous return from the brain. Treatment consisted of surgery for the aortic pseudoaneurysm, which led to normalization of the intracranial pressure and resorption of the intracranial hemorrhage. Copyright © 2012 Elsevier Ltd. All rights reserved.

  11. Laparoscopic Treatment of Median Arcuate Ligament Syndrome: A Rare Cause of Chronic Severe Abdominal Pain.

    Science.gov (United States)

    Divarci, Emre; Celtik, Ulgen; Dokumcu, Zafer; Celik, Ahmet; Ergun, Orkan

    2017-01-01

    Median arcuate ligament syndrome is a rare disorder characterized by chronic postprandial abdominal pain and weight loss caused by compression on celiac artery. A 17-year-old girl with chronic severe abdominal pain and weight loss was referred to our clinic. Other causes of chronic abdominal pain were investigated and excluded. The compression on celiac artery was detected on Doppler ultrasound and diagnosis was confirmed by computed tomography angiography. The patient underwent laparoscopic release of median arcuate ligament. There were no intraoperative complications; however, partial pain response was observed postoperatively that necessitated para-spinal ganglion blockage. The patient is symptom-free in 1-year follow-up period.

  12. Spinal intradural hydatid cyst causing arachnoiditis: A rare etiology of cauda equina syndrome.

    Science.gov (United States)

    Singh, Suyash; Sardhara, Jayesh; Singh, Amit Kumar; Srivastava, Arun Kumar; Bhaisora, Kamlesh Singh; Das, Kuntal Kanti; Mehrotra, Anant; Sahu, Rabi N; Jaiswal, Awadhesh Kumar; Behari, Sanjay

    2016-01-01

    This study aims to focus on a rare presentation of spinal hydatid cyst as cauda equine syndrome and misdiagnosed as intradural extramedullary (IDEM) benign lesion on magnetic resonance imaging. In this article, we report a case of spinal hydatid cyst masquerading as IDEM tumor, and intraoperatively, we accidently find clumped granuloma with severe arachnoiditis and hydatid cyst in lumber region, which was present as bilateral S1 radiculopathy with cauda equina syndrome. An 11-year-old boy who presented with symptoms and signs of cauda equina syndrome and planned for surgical excision. His radiological impression was IDEM possibly neurofibroma. To our surprise, we found multiple intradural cystic lesions with arachnoiditis. Dissecting in plane cyst was flushed out, and surgical cavity was irrigated with 3% saline. Postoperatively histopathology and serum tests confirmed the diagnosis of hydatid cyst. Hydatid disease is rare cause of cauda equine syndrome which can be miss diagnosed on radiological investigations. A high index of suspicion should be kept especially in a young patient from the Indian subcontinent.

  13. Spinal intradural hydatid cyst causing arachnoiditis: A rare etiology of cauda equina syndrome

    Directory of Open Access Journals (Sweden)

    Suyash Singh

    2016-01-01

    Full Text Available This study aims to focus on a rare presentation of spinal hydatid cyst as cauda equine syndrome and misdiagnosed as intradural extramedullary (IDEM benign lesion on magnetic resonance imaging. In this article, we report a case of spinal hydatid cyst masquerading as IDEM tumor, and intraoperatively, we accidently find clumped granuloma with severe arachnoiditis and hydatid cyst in lumber region, which was present as bilateral S1 radiculopathy with cauda equina syndrome. An 11 year old boy who presented with symptoms and signs of cauda equina syndrome and planned for surgical excision. His radiological impression was IDEM possibly neurofibroma. To our surprise, we found multiple intradural cystic lesions with arachnoiditis. Dissecting in plane cyst was flushed out, and surgical cavity was irrigated with 3% saline. Postoperatively histopathology and serum tests confirmed the diagnosis of hydatid cyst. Hydatid disease is rare cause of cauda equine syndrome which can be miss diagnosed on radiological investigations. A high index of suspicion should be kept especially in a young patient from the Indian subcontinent.

  14. Two cases of uveitis masquerade syndrome caused by bilateral intraocular large B-cell lymphoma

    Directory of Open Access Journals (Sweden)

    Jovanović Svetlana

    2013-01-01

    Full Text Available Introduction. Sometimes it is not easy to clinically recognize subtle differences between intraocular lymphoma and noninfectious uveitis. The most common lymphoma subtype involving the eye is B-cell lymphoma. Case report. We presented two patients aged 59 and 58 years with infiltration of the subretinal space with a large B-cell non-Hodgkin intraocular lymphoma. The patients originally had clinically masked syndrome in the form of intermediate uveitis. As it was a corticosteroid-resistant uveitis, we focused on the possible diagnosis of neoplastic causes of this syndrome. During hospitalization, the neurological symptoms emerged and multiple subretinal changes accompanied by yellowish white patches of retinal pigment epithelium with signs of vitritis, which made us suspect the intraocular lymphoma. Endocranial magnetic resonance imaging established tumorous infiltration in the region of the left hemisphere of the cerebellum. The histopathological finding confirmed the diagnosis of large B-cell non-Hodgkin lymphoma of risk moderate degree, immunoblast - centroblast cytological type. The other patient had clinical chronic uveitis accompanied by yellowish shaped white echographic changes of the retina and localized changes in the level of the subretina. The diagnosis of lymphoma was made by brain biopsy. Conclusion. Uveitis masquerade syndrome should be considered in all patients over 40 years with idiopathic steroid-resistant uveitis. Treatment begun on time can affect the course and improve the prognosis of uveitis masquerade syndrome (UMS and systemic disease.

  15. CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin.

    Science.gov (United States)

    Pauli, S; von Velsen, N; Burfeind, P; Steckel, M; Mänz, J; Buchholz, A; Borozdin, W; Kohlhase, J

    2012-03-01

    CHARGE (coloboma, heart defects, atresia of the choanae, retarded growth and development, genital hypoplasia, ear anomalies and deafness) syndrome is a congenital malformation syndrome caused by mutations in the CHD7 gene in approximately 2/3 of cases. In the vast majority of cases, CHARGE syndrome is sporadic. There are only a few reports of parent-to-child transmission and somatic or gonadal mosaicism. To determine the parental origin of CHD7 mutations in sporadic CHARGE syndrome, we screened 30 families for informative exonic or intronic polymorphisms located near the detected CHD7 mutation. An informative polymorphism could be identified in 13 out of 30 families. Linkage analysis was performed between the CHD7 mutation and the polymorphism in the child. In 12 out of 13 families, the mutation affected the paternal allele (92.3%). In our cohort, the mean paternal age at birth was 32.92 years. Comparing the age of fathers of an affected CHARGE patient with the paternal age of the German population in general, we could not observe any paternal age effect. Taken together, we show in this study that de novo CHD7 mutations occur predominantly in the male germ line. © 2011 John Wiley & Sons A/S.

  16. Spinal intradural hydatid cyst causing arachnoiditis: A rare etiology of cauda equina syndrome

    Science.gov (United States)

    Singh, Suyash; Sardhara, Jayesh; Singh, Amit Kumar; Srivastava, Arun Kumar; Bhaisora, Kamlesh Singh; Das, Kuntal Kanti; Mehrotra, Anant; Sahu, Rabi N; Jaiswal, Awadhesh Kumar; Behari, Sanjay

    2016-01-01

    This study aims to focus on a rare presentation of spinal hydatid cyst as cauda equine syndrome and misdiagnosed as intradural extramedullary (IDEM) benign lesion on magnetic resonance imaging. In this article, we report a case of spinal hydatid cyst masquerading as IDEM tumor, and intraoperatively, we accidently find clumped granuloma with severe arachnoiditis and hydatid cyst in lumber region, which was present as bilateral S1 radiculopathy with cauda equina syndrome. An 11-year-old boy who presented with symptoms and signs of cauda equina syndrome and planned for surgical excision. His radiological impression was IDEM possibly neurofibroma. To our surprise, we found multiple intradural cystic lesions with arachnoiditis. Dissecting in plane cyst was flushed out, and surgical cavity was irrigated with 3% saline. Postoperatively histopathology and serum tests confirmed the diagnosis of hydatid cyst. Hydatid disease is rare cause of cauda equine syndrome which can be miss diagnosed on radiological investigations. A high index of suspicion should be kept especially in a young patient from the Indian subcontinent. PMID:27891041

  17. Behçet’s Disease and Intracardiac Thrombosis: A Report of Three Cases

    Directory of Open Access Journals (Sweden)

    Nurşen Düzgün

    2013-01-01

    Full Text Available We present three patients with Behçet’s disease associated with intracardiac thrombus and pulmonary vascular involvement. One of these patients had also Budd-Chiari syndrome. All patients were treated with corticosteroid plus monthly intravenous cyclophosphamide as first line treatment and with no recurrences. Immunosuppressive therapy was successful in the treatment of intracardiac thrombus and also in the regression of pulmonary vascular thromboses in these patients. Intracardiac thrombus in Behçet’s disease is rarely seen. Behçet’s disease should be remembered in the differential diagnosis of the patients with intracardiac mass, especially in patients from the Mediterranean and Middle East populations.

  18. A familial case of Blau syndrome caused by a novel NOD2 genetic mutation.

    Science.gov (United States)

    Kim, Woojoong; Park, Eujin; Ahn, Yo Han; Lee, Jiwon M; Kang, Hee Gyung; Kim, Byung Joo; Ha, Il-Soo; Cheong, Hae Il

    2016-11-01

    Blau syndrome (BS) is a rare autosomal dominant, inflammatory syndrome that is characterized by the clinical triad of granulomatous dermatitis, symmetric arthritis, and recurrent uveitis. Mutations in the nucleotide oligomerization domain 2 (NOD2) gene are responsible for causing BS. To date, up to 30 Blau-associated genetic mutations have been identified within this gene. We report a novel NOD2 genetic mutation that causes BS. A girl, aged 8 years, and her brother, aged 10 years, developed erythematous skin rashes and uveitis. The computed tomography angiogram of the younger sister showed features of midaortic dysplastic syndrome. The brother had more prominent joint involvement than the sister. Their father (38 years) was also affected by uveitis; however, only minimal skin involvement was observed in his case. The paternal aunt (39 years) and her daughter (13 years) were previously diagnosed with sarcoidosis. Mutational analysis revealed a novel c.1439 A>G mutation in the NOD2 gene in both siblings. The novel c.1439 A>G mutation in the NOD2 gene was found in a familial case of BS. Although BS is rare, it should always be considered in patients presenting with sarcoidosis-like features at a young age. Early diagnosis of BS and prompt multisystem workup including the eyes and joints can improve the patient's outcome.

  19. Trousseau's Syndrome Caused by Intrahepatic Cholangiocarcinoma: An Autopsy Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    Takashi Yuri

    2014-05-01

    Full Text Available An autopsy case report of Trousseau's syndrome caused by intrahepatic cholangiocarcinoma is presented, and seven previously reported cases are reviewed. A 73-year-old woman experiencing light-headedness and dementia of unknown cause for 6 months developed severe hypotonia. A hypointense lesion compatible with acute cerebral infarction was detected by magnetic resonance imaging. Abdominal computed tomography revealed an ill-defined large liver mass in the right lobe. The mass was not further investigated because of the patient's poor condition. She died of multiple organ failure, and an autopsy was conducted. Postmortem examination revealed intrahepatic cholangiocarcinoma, fibrous vegetations on the mitral valves and multiple thromboemboli in the cerebrum, spleen and rectum. Trousseau's syndrome is defined as an idiopathic thromboembolism in patients with undiagnosed or concomitantly diagnosed malignancy. This syndrome is encountered frequently in patients with mucin-producing carcinomas, while the incidence in patients with intrahepatic cholangiocarcinoma is uncommon. We found that tissue factor and mucin tumor marker (CA19-9, CA15-3 and CA-125 expression in cancer cells may be involved in the pathogenesis of thromboembolism. A patient with unexplained thromboembolism may have occult visceral malignancy; thus, mucin tumor markers may indicate the origin of a mucin-producing carcinoma, and postmortem examination may play an important role in revealing the hidden malignancy.

  20. An ignored cause of chronic kidney disease in children: type 2 cardiorenal syndrome

    Directory of Open Access Journals (Sweden)

    Engin Melek

    2016-06-01

    Full Text Available Cardiorenal syndrome is a disorder of the heart and kidneys in which acute or chronic dysfunction in one organ may induce acute or chronic dysfunction in the other organ. It is well known that the main cause of mortality among patients with end-stage renal disease is due to cardiovascular events and a common complication in patients in acute heart failure is a decrease in renal function. However, when there are no signs and/or symptoms of chronic cardiovascular disease, cardiovascular causes in the etiology of chronic kidney disease is not the first differential considered. We present an 11 year-old girl patient, diagnosed with type 2-chronic cardiorenal syndrome who had previously been followed in another center with the diagnosis of chronic kidney disease for six months and referred to our hospital for kidney biopsy. We present this case to increase awareness of pediatrician and nephrologist about this syndrome. [Cukurova Med J 2016; 41(2.000: 393-395

  1. Terson syndrome: an underrecognized cause of reversible vision loss in patients with subarachnoid hemorrhage.

    Science.gov (United States)

    Middleton, Kim; Esselman, Peter; Lim, P Chuwn

    2012-03-01

    Terson syndrome is a known complication of subarachnoid hemorrhage (SAH) that causes potentially reversible vision loss. It develops after SAH because of vitreous hemorrhage caused by retinal capillary disruption. Case series report an incidence of Terson syndrome in approximately 8%-15% of patients with SAH. Nonetheless, the medical literature regarding this condition is primarily found within neurosurgical and ophthalmologic journals with little mention within the rehabilitation medicine literature. Physiatrists must be aware of this clinical presentation to coordinate the care of patients with SAH who develop vision loss and develop a rehabilitation plan that addresses the co-morbid motor, sensory, and cognitive impairments. Physiatrists may be the first to identify visual loss, are well equipped to emphasize compensatory strategies, and are well positioned to coordinate surgical treatment for visual recovery in appropriate cases. In this report, we describe the case of a young woman with SAH and Terson syndrome through her acute hospital admission, rehabilitation treatment, ophthalmologic management, and outcome, describing the salient epidemiology, pathophysiology, diagnostic workup, and treatment options.

  2. Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

    DEFF Research Database (Denmark)

    Hoornaert, Kristien P; Vereecke, Inge; Dewinter, Chantal

    2010-01-01

    Stickler syndrome is an autosomal dominant connective tissue disorder caused by mutations in different collagen genes. The aim of our study was to define more precisely the phenotype and genotype of Stickler syndrome type 1 by investigating a large series of patients with a heterozygous mutation ...

  3. Anterior sacral meningocele in a patient with currarino syndrome as a cause of ileus.

    Science.gov (United States)

    Aydoseli, A; Akcakaya, M O; Aras, Y; Dolas, I; Yanar, H; Sencer, A

    2013-12-01

    Currarino's syndrome (CS) is characterized by a triad of a sacral bony defect, anorectal malformations and presacral mass, most commonly an anterior sacral meningocele. Since it was first described as a syndrome by Currarino et al. in 1981, approximately 300 cases have been reported in the literature. Diagnosis of CS in adulthood is rare. We present an adult patient with CS, manifesting by an acute intestinal obstruction. To our knowledge, acute intestinal obstruction in an adult as a presentation of CS has not been reported previously. Colostomy was performed first by the general surgery team to relieve intestinal obstruction caused by the giant cyst. After the final diagnosis of anterior sacral meningocele was established, a second operation was performed for the ligation of the cyst neck through a posterior approach. The size of the cyst gradually reduced over time. A staged approach and the multidisciplinary management, with the collaboration of the general surgery and neurosurgery teams, provided a satisfactory clinical outcome.

  4. Reversible cerebral vasoconstriction syndrome presenting as subarachnoid hemorrhage: A rare cause of postpartum seizure.

    Science.gov (United States)

    Lee, Sun Hwa; Yun, Seong Jong; Choi, Yoon Hee

    2017-05-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is a rare cerebrovascular disorder affecting large- and medium-sized arteries, occurring most commonly in young women. Thunderclap headache is the usual primary symptom; seizure is uncommon. During the postpartum period, seizure is a significant concern. The main causes of postpartum seizures are posterior reversible encephalopathy syndrome and cortical venous thrombosis; RCVS-related postpartum seizure is rare. Despite its rarity, its course may be fulminant, resulting in permanent disability or death if the diagnosis is delayed and treatment is not started promptly. We report an unusual case of RCVS presenting as a subarachnoid hemorrhage in a 31-year-old woman admitted for postpartum seizure. Copyright © 2016 Elsevier Inc. All rights reserved.

  5. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

    DEFF Research Database (Denmark)

    Ü Basmanav, F Buket; Cau, Laura; Tafazzoli, Aylar

    2016-01-01

    to being combed flat. Until now, both simplex and familial UHS-affected case subjects with autosomal-dominant as well as -recessive inheritance have been reported. However, none of these case subjects were linked to a molecular genetic cause. Here, we report the identification of UHS-causative mutations......Uncombable hair syndrome (UHS), also known as "spun glass hair syndrome," "pili trianguli et canaliculi," or "cheveux incoiffables" is a rare anomaly of the hair shaft that occurs in children and improves with age. UHS is characterized by dry, frizzy, spangly, and often fair hair that is resistant...... located in the three genes PADI3 (peptidylarginine deiminase 3), TGM3 (transglutaminase 3), and TCHH (trichohyalin) in a total of 11 children. All of these individuals carry homozygous or compound heterozygous mutations in one of these three genes, indicating an autosomal-recessive inheritance pattern...

  6. A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease.

    Science.gov (United States)

    Sznajer, Yves; Coldéa, Cristina; Meire, Françoise; Delpierre, Isabelle; Sekhara, Tayeb; Touraine, Renaud L

    2008-04-15

    Type 4 Waardenburg syndrome represents a well define entity caused by neural crest derivatives anomalies (melanocytes, intrinsic ganglion cells, central, autonomous and peripheral nervous systems) leading, with variable expressivity, to pigmentary anomalies, deafness, mental retardation, peripheral neuropathy, and Hirschsprung disease. Autosomal dominant mode of inheritance is prevalent when Sox10 gene mutation is identified. We report the natural history of a child who presented with synophrys, vivid blue eye, deafness, bilateral complete semicircular canals agenesis with mental retardation, subtle signs for peripheral neuropathy and lack of Hirschsprung disease. SOX10 gene sequencing identified "de novo" splice site mutation (c.698-2A > C). The present phenotype and the genotype findings underline the wide spectrum of SOX10 gene implication in unusual type 4 Waardenburg syndrome patient. Copyright 2008 Wiley-Liss, Inc.

  7. Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

    Science.gov (United States)

    de Pontual, Loïc; Zaghloul, Norann A.; Thomas, Sophie; Davis, Erica E.; Mcgaughey, David M.; Dollfus, Hélène; Baumann, Clarisse; Bessling, Seneca L.; Babarit, Candice; Pelet, Anna; Gascue, Cecilia; Beales, Philip; Munnich, Arnold; Lyonnet, Stanislas; Etchevers, Heather; Attie-Bitach, Tania; Badano, Jose L.; McCallion, Andrew S.; Katsanis, Nicholas; Amiel, Jeanne

    2009-01-01

    Hirschsprung disease (HSCR) is a common, multigenic neurocristopathy characterized by incomplete innervation along a variable length of the gut. The pivotal gene in isolated HSCR cases, either sporadic or familial, is RET. HSCR also presents in various syndromes, including Shah–Waardenburg syndrome (WS), Down (DS), and Bardet–Biedl (BBS). Here, we report 3 families with BBS and HSCR with concomitant mutations in BBS genes and regulatory RET elements, whose functionality is tested in physiologically relevant assays. Our data suggest that BBS mutations can potentiate HSCR predisposing RET alleles, which by themselves are insufficient to cause disease. We also demonstrate that these genes interact genetically in vivo to modulate gut innervation, and that this interaction likely occurs through complementary, yet independent, pathways that converge on the same biological process. PMID:19666486

  8. De novo SHANK3 mutation causes Rett syndrome-like phenotype in a female patient.

    Science.gov (United States)

    Hara, Munetsugu; Ohba, Chihiro; Yamashita, Yushiro; Saitsu, Hirotomo; Matsumoto, Naomichi; Matsuishi, Toyojiro

    2015-07-01

    Rett syndrome (RTT) is a neurodevelopmental disorder predominantly affecting females. Females with the MECP2 mutations exhibit a broad spectrum of clinical manifestations ranging from classical Rett syndrome to asymptomatic carriers. Mutations of genes encoding cyclin-dependent kinase-like 5 (CDKL5) and forkhead box G1 (FOXG1) are also found in early onset RTT variants. Here, we present the first report of a female patient with RTT-like phenotype caused by SHANK3 (SH3 and multiple ankylin repeat domain 3) mutation, indicating that the clinical spectrum of SHANK3 mutations may extend to RTT-like phenotype in addition to (severe) developmental delay, absence of expressive speech, autistic behaviors and intellectual disability. © 2015 Wiley Periodicals, Inc.

  9. Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome.

    Science.gov (United States)

    Shi, Lisong; Luo, Chunyan; Ahmed, Mairaj K; Attaie, Ali B; Ye, Xiaoqian

    2016-04-01

    Ellis-van Creveld syndrome (EvC) is a rare autosomal recessive disorder characterized by disproportionate chondrodysplasia, postaxial polydactyly, nail dystrophy, dental abnormalities and in a proportion of patients, congenital cardiac malformations. Weyers acrofacial dysostosis (Weyers) is another dominantly inherited disorder allelic to EvC syndrome but with milder phenotypes. Both disorders can result from loss-of-function mutations in either EVC or EVC2 gene, and phenotypes associated with the two gene mutations are clinically indistinguishable. We present here a clinical and molecular analysis of a Chinese family manifested specific features of EvC syndrome. Sequencing of both EVC and EVC2 identified two novel heterozygous splice site mutations c.384+5G>C in intron 3 and c.1465-1G>A in intron 10 in EVC, which were inherited from mother and father, respectively. In vitro minigene expression assay, RT-PCR and sequencing analysis demonstrated that c.384+5G>C mutation abolished normal splice site and created a new cryptic acceptor site within exon 4, whereas c.1465-1G>A mutation affected consensus splice junction site and resulted in full exon 11 skipping. These two aberrant pre-mRNA splicing processes both produced in-frame abnormal transcripts that possibly led to abolishment of important functional domains. To our knowledge, this is the first report of EVC mutations that cause EvC syndrome in Chinese population. Our data revealed that EVC splice site mutations altered splicing pattern and helped elucidate the pathogenesis of EvC syndrome.

  10. Jacobsen syndrome and Beckwith-Wiedemann syndrome caused by a parental pericentric inversion inv(11)(p15q24).

    Science.gov (United States)

    Gadzicki, D; Baumer, A; Wey, E; Happel, C M; Rudolph, C; Tönnies, H; Neitzel, H; Steinemann, D; Welte, K; Klein, C; Schlegelberger, B

    2006-11-01

    Here we report on a male infant presenting the typical pattern of Jacobsen syndrome including trigonocephaly, thrombocytopenia, congenital heart defect, urethral stenosis, and partial agenesis of the corpus callosum. Conventional karyotyping, FISH, SKY and CGH analyses showed that the region distal to the MLL locus on 11q23 was lost and replaced by the distal region of 11p, leading to a partial trisomy of 11p and a partial monosomy of 11q. According to ISCN (1995) the karyotype can be described as 46,XY,add(11)(q2?3). ish 11ptel(D11S2071x3),11qtel(VIJyRM2072x1). Array-CGH analysis allowed us to narrow down the breakpoints to 11p15.1 and 11q24.1. Methylation analyses of genes located on 11p showed an increased level of the non-methylated paternal allele of the KCNQ1OT1 gene, confirming the concomitant presence of Beckwith-Wiedemann syndrome (BWS). The phenotype resulting from the 11q deletion seems to dominate the phenotype due to the distal 11p trisomy. Investigation of the parents revealed that this chromosomal rearrangement was caused by a paternal pericentric inversion inv(11)(p15q24). Since chromosomal aberrations like the one described here can easily be overlooked during routine chromosome analysis, combined FISH analysis using subtelomeric and possibly additional probes should be applied if there is any doubt about the integrity of telomeric regions.

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

    DEFF Research Database (Denmark)

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

    2013-01-01

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

  12. Risk factors for automobile accidents caused by falling asleep while driving in obstructive sleep apnea syndrome.

    Science.gov (United States)

    Arita, Aki; Sasanabe, Ryujiro; Hasegawa, Rika; Nomura, Atsuhiko; Hori, Reiko; Mano, Mamiko; Konishi, Noriyuki; Shiomi, Toshiaki

    2015-12-01

    We examined the risk factors for automobile accidents caused by falling asleep while driving in subjects with obstructive sleep apnea syndrome (OSAS). We asked licensed drivers with history of snoring and excessive daytime sleepiness who had undergone polysomnography (PSG) at the Department of Sleep Medicine/Sleep Disorders Center at Aichi Medical University Hospital to complete the questionnaires on accidents caused by falling asleep while driving. As a subjective measure of sleepiness, we used the Epworth sleepiness scale (ESS). Based on PSG results, 2387 subjects diagnosed with OSAS were divided into three groups according to apnea-hypopnea index (AHI): mild-to-moderate (5 ≤ AHI driving when drowsy and having accidents in the past 5 years due to falling asleep. Our multivariate analysis suggests that scores on the ESS and patient-reported frequency of feeling drowsy while regular driving and working are related to automobile accidents caused by falling asleep while driving.

  13. [Spontaneous coronary artery dissection: An exceptional cause of acute coronary syndrome].

    Science.gov (United States)

    Yao, H; Ekou, A; N'Djessan, J J; Zoumenou, A; Angoran, I; N'Guetta, R

    2018-02-01

    Spontaneous coronary artery dissection (SCAD) is an uncommon cause of acute coronary syndrome (ACS) or sudden death, which typically affects young women. We reported two cases of black Africans patients, aged 56 and 52 years old, who presented to Abidjan Heart Institute for ACS. Coronary angiography showed spontaneous dissection of the right coronary artery in the first case, and dissection of the distal left anterior descending artery in the second. A conservative approach was preferred. Both patients received antiplatelet agents, beta-blockers, angiotensin converting enzyme inhibitors and statins, with a favorable in-hospital course. These cases highlight SCAD as a possible cause of ACS. Implementation of interventional cardiology in Sub-Saharan Africa will help identify this uncommon cause of ACS. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  14. Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations

    DEFF Research Database (Denmark)

    Nielsen, Sofie V,; Stein, Amelie; Dinitzen, Alexander B.

    2017-01-01

    inherent loss of function, and accordingly our in silico modeling data accurately identifies disease-causing mutations and outperforms the traditionally used genetic disease predictors. Thus, in conclusion, in silico biophysical modeling should be considered for making genotype-phenotype predictions......Accurate methods to assess the pathogenicity of mutations are needed to fully leverage the possibilities of genome sequencing in diagnosis. Current data-driven and bioinformatics approaches are, however, limited by the large number of new variations found in each newly sequenced genome, and often...... selected the human mismatch repair protein, MSH2, where missense variants are known to cause the hereditary cancer predisposition disease, known as Lynch syndrome. We show that the majority of disease-causing MSH2 mutations give rise to folding defects and proteasome-dependent degradation rather than...

  15. Quadrilateral space syndrome caused by a humeral osteochondroma: a case report and review of literature.

    Science.gov (United States)

    Cirpar, Meric; Gudemez, Eftal; Cetik, Ozgur; Uslu, Murad; Eksioglu, Fatih

    2006-09-01

    Quadrilateral space syndrome (QSS) is a rare condition in which the posterior humeral circumflex artery and the axillary nerve are entrapped within the quadrilateral space. The main causes of the entrapment are abnormal fibrous bands and hypertrophy of the muscular boundaries. Many other space-occupying causes such as a glenoidal labral cyst or fracture hematoma have been reported in the literature. However, we could not find a report on classical QSS caused by an osteochondroma. The aim of this case report is to attract attention to an unusual etiology of shoulder pain, and to emphasize the importance of physical examination and x-ray imaging before performing more complex attempts for differential diagnosing.

  16. Causes, consequences, and therapy of the Radiophobia syndrome; Ursachen, Folgen und Therapie des Radiophobie-Syndroms

    Energy Technology Data Exchange (ETDEWEB)

    Becker, K.

    2004-03-01

    The final storage of high-level radioactive waste, which is said to be still open while, in fact, it was solved technically a long time ago and is only being blocked for political reasons, as well as alleged technical risks of German nuclear power plants which have never been demonstrated or proven, are listed again and again as grounds for opting out of the use of nuclear power. There is hardly any doubt that one of the main causes underlying also these arguments, and thus the main reason for the insufficient public acceptance of nuclear power in Germany at the present time as a safe, inexpensive, and non-polluting source of primary energy, is the widespread fear of radiation (radiophobia). Consequently, solutions proposed for successfully managing this radiophobia must be examined. Continued scientific studies of the subject do not seem to be promising, as funds are available at present only for continuing the search for negative biological effects. Important preconditions for a change in attitude are the appropriate initiatives to be taken by the relatively small number of sufficiently independent experts of proven scientific repute. Initiatives of this kind can now be observed in numerous countries and regions in the world. It must be pointed out in this connection, as is underlined again and again by experienced experts, that risk acceptance is not a matter of factual arguments, but of emotions. Psychological and pedagogic sensitivity certainly are important elements in changing public opinion in the interest of a more realistic assessment of the radiation risk and the acceptance of nuclear power. (orig.) [German] Die angeblich noch offene, tatsaechlich aber laengst technisch geloeste und nur politisch blockierte Frage der Endlagerung hochradioaktiver Abfaelle, ebenso wie vorgebliche, tatsaechlich aber nie nachgewiesene technische Risiken der deutschen Kernkraftwerke werden immer wieder als Ausstiegsgruende fuer die Kernenergie genannt. Es bestehen kaum

  17. Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations.

    Directory of Open Access Journals (Sweden)

    Sofie V Nielsen

    2017-04-01

    Full Text Available Accurate methods to assess the pathogenicity of mutations are needed to fully leverage the possibilities of genome sequencing in diagnosis. Current data-driven and bioinformatics approaches are, however, limited by the large number of new variations found in each newly sequenced genome, and often do not provide direct mechanistic insight. Here we demonstrate, for the first time, that saturation mutagenesis, biophysical modeling and co-variation analysis, performed in silico, can predict the abundance, metabolic stability, and function of proteins inside living cells. As a model system, we selected the human mismatch repair protein, MSH2, where missense variants are known to cause the hereditary cancer predisposition disease, known as Lynch syndrome. We show that the majority of disease-causing MSH2 mutations give rise to folding defects and proteasome-dependent degradation rather than inherent loss of function, and accordingly our in silico modeling data accurately identifies disease-causing mutations and outperforms the traditionally used genetic disease predictors. Thus, in conclusion, in silico biophysical modeling should be considered for making genotype-phenotype predictions and for diagnosis of Lynch syndrome, and perhaps other hereditary diseases.

  18. Origins of the E. coli Strain Causing an Outbreak of Hemolytic–Uremic Syndrome in Germany

    Science.gov (United States)

    Rasko, David A.; Webster, Dale R.; Sahl, Jason W.; Bashir, Ali; Boisen, Nadia; Scheutz, Flemming; Paxinos, Ellen E.; Sebra, Robert; Chin, Chen-Shan; Iliopoulos, Dimitris; Klammer, Aaron; Peluso, Paul; Lee, Lawrence; Kislyuk, Andrey O.; Bullard, James; Kasarskis, Andrew; Wang, Susanna; Eid, John; Rank, David; Redman, Julia C.; Steyert, Susan R.; Frimodt-Møller, Jakob; Struve, Carsten; Petersen, Andreas M.; Krogfelt, Karen A.; Nataro, James P.; Schadt, Eric E.; Waldor, Matthew K.

    2011-01-01

    BACKGROUND A large outbreak of diarrhea and the hemolytic–uremic syndrome caused by an unusual serotype of Shiga-toxin–producing Escherichia coli (O104:H4) began in Germany in May 2011. As of July 22, a large number of cases of diarrhea caused by Shiga-toxin–producing E. coli have been reported — 3167 without the hemolytic–uremic syndrome (16 deaths) and 908 with the hemolytic–uremic syndrome (34 deaths) — indicating that this strain is notably more virulent than most of the Shiga-toxin–producing E. coli strains. Preliminary genetic characterization of the outbreak strain suggested that, unlike most of these strains, it should be classified within the enteroaggregative pathotype of E. coli. METHODS We used third-generation, single-molecule, real-time DNA sequencing to determine the complete genome sequence of the German outbreak strain, as well as the genome sequences of seven diarrhea-associated enteroaggregative E. coli serotype O104:H4 strains from Africa and four enteroaggregative E. coli reference strains belonging to other serotypes. Genomewide comparisons were performed with the use of these enteroaggregative E. coli genomes, as well as those of 40 previously sequenced E. coli isolates. RESULTS The enteroaggregative E. coli O104:H4 strains are closely related and form a distinct clade among E. coli and enteroaggregative E. coli strains. However, the genome of the German outbreak strain can be distinguished from those of other O104:H4 strains because it contains a prophage encoding Shiga toxin 2 and a distinct set of additional virulence and antibiotic-resistance factors. CONCLUSIONS Our findings suggest that horizontal genetic exchange allowed for the emergence of the highly virulent Shiga-toxin–producing enteroaggregative E. coli O104:H4 strain that caused the German outbreak. More broadly, these findings highlight the way in which the plasticity of bacterial genomes facilitates the emergence of new pathogens. PMID:21793740

  19. Medial Clavicular Osteophyte: A Novel Cause of Paget-Schroetter Syndrome

    Directory of Open Access Journals (Sweden)

    Keagan Werner-Gibbings

    2015-01-01

    Full Text Available Paget-Schroetter syndrome is a form of upper limb deep venous thrombosis usually seen in younger patients in association with repetitive activities of the affected limb. When occurring in more elderly patients or in those where it is difficult to appreciate a causative mechanism, other aetiologies should be considered. We present a case in which degenerative osteoarthritis of the sternoclavicular joint with osteophyte development impinged on the subclavian vein, leading to extensive upper limb thrombosis. The difficulties in identifying and managing this unusual cause of Paget-Schroetter are presented and discussed.

  20. Gene Therapy for the Retinal Degeneration of Usher Syndrome Caused by Mutations in MYO7A.

    Science.gov (United States)

    Lopes, Vanda S; Williams, David S

    2015-01-20

    Usher syndrome is a deaf-blindness disorder. One of the subtypes, Usher 1B, is caused by loss of function of the gene encoding the unconventional myosin, MYO7A. A variety of different viral-based delivery approaches have been tested for retinal gene therapy to prevent the blindness of Usher 1B, and a clinical trial based on one of these approaches has begun. This review evaluates the different approaches. Copyright © 2015 Cold Spring Harbor Laboratory Press; all rights reserved.

  1. Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome

    DEFF Research Database (Denmark)

    Lund, Caroline; Striano, Pasquale; Sorte, Hanne Sørmo

    2016-01-01

    Aicardi syndrome (AS) is a well-characterized neurodevelopmental disorder with an unknown etiology. In this study, we performed whole-exome sequencing in 11 female patients with the diagnosis of AS, in order to identify the disease-causing gene. In particular, we focused on detecting variants......-exonic region or that the mutation is somatic and not detectable by our approach. Alternatively, it is possible that AS is genetically heterogeneous and that 11 patients are not sufficient to reveal the causative genes. Future studies of AS should consider designs where also non-exonic regions are explored...

  2. Hypocomplementemic urticarial vasculitis syndrome: a rare cause of basilar panacinar emphysema.

    Science.gov (United States)

    Pujara, Akshat C; Mohammed, Tan-Lucien H

    2012-05-01

    Hypocomplementemic urticarial vasculitis syndrome (HUVS) is a rare condition characterized by an immune complex-mediated disruption of multiple organ systems. Pulmonary involvement is a major cause of morbidity and mortality in patients with HUVS. HUVS has been described by clinical, histological, and laboratory findings. However, the role of radiography in the diagnosis and management of HUVS has not been established. We examine computed tomography findings in a patient with HUVS and explore the potential of thoracic computed tomography imaging to augment the management of HUVS by serving as a diagnostic tool and marker of disease severity.

  3. Utility of screening for other causes of infertility in women with "known" polycystic ovary syndrome.

    Science.gov (United States)

    McGovern, Peter G; Legro, Richard S; Myers, Evan R; Barnhart, Huiman X; Carson, Sandra A; Diamond, Michael P; Carr, Bruce R; Schlaff, William D; Coutifaris, Christos; Steinkampf, Michael P; Nestler, John E; Gosman, Gabey; Leppert, Phyllis C; Giudice, Linda C

    2007-02-01

    We investigated the prevalence of abnormal screening results (questionnaire and testing for other causes of oligo-ovulation, male or tubal factor infertility) in a group of 1,313 oligo-ovulatory women (included and excluded subjects) whose condition was screened for inclusion in the Pregnancy in Polycystic Ovary Syndrome trial, a multicenter clinical trial that was conducted at 13 sites in the United States. Other than failure to demonstrate laboratory evidence of hyperandrogenemia, the most common reasons for subject exclusion were persistent oligospermia and tubal factor infertility.

  4. Case Report: A Rare Cause of Complicated Urinary Tract Infection in a Woman with Herlyn-Werner-Wunderlich Syndrome.

    Science.gov (United States)

    Tsai, Jun-Li; Tsai, Shang-Feng

    2016-11-01

    Urinary tract infection is a common disease in the general population. However, in patients with frequent urinary tract infection, it is important to determine any treatable cause to avoid recurrence. Herlyn-Werner-Wunderlich syndrome or OHVIRA syndrome is a very rare congenital anomaly with uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis. The earliest presentation of this syndrome is hematocolpos that develops during menstruation and results in dysmenorrhea and a pelvic mass shortly after menarche. Herein, we report a patient with Herlyn-Werner-Wunderlich syndrome manifested with unusual symptoms, delayed onset and without surgery. The unique point of this patient is the partial obstruction of cervico-vaginal junction. Early diagnosis and timely treatment of OHVIRA syndrome can prevent long-term complications, such as recurrent urinary tract infection and infertility. A high index of suspicion is required, even though OHVIRA syndrome is extremely rare and may have an atypical presentation.

  5. Dysregulation of gene expression as a cause of Cockayne syndrome neurological disease.

    Science.gov (United States)

    Wang, Yuming; Chakravarty, Probir; Ranes, Michael; Kelly, Gavin; Brooks, Philip J; Neilan, Edward; Stewart, Aengus; Schiavo, Giampietro; Svejstrup, Jesper Q

    2014-10-07

    Cockayne syndrome (CS) is a multisystem disorder with severe neurological symptoms. The majority of CS patients carry mutations in Cockayne syndrome group B (CSB), best known for its role in transcription-coupled nucleotide excision repair. Indeed, because various repair pathways are compromised in patient cells, CS is widely considered a genome instability syndrome. Here, we investigate the connection between the neuropathology of CS and dysregulation of gene expression. Transcriptome analysis of human fibroblasts revealed that even in the absence of DNA damage, CSB affects the expression of thousands of genes, many of which are neuronal genes. CSB is present in a significant subset of these genes, suggesting that regulation is direct, at the level of transcription. Importantly, reprogramming of CS fibroblasts to neuron-like cells is defective unless an exogenous CSB gene is introduced. Moreover, neuroblastoma cells from which CSB is depleted show defects in gene expression programs required for neuronal differentiation, and fail to differentiate and extend neurites. Likewise, neuron-like cells cannot be maintained without CSB. Finally, a number of disease symptoms may be explained by marked gene expression changes in the brain of patients with CS. Together, these data point to dysregulation of gene regulatory networks as a cause of the neurological symptoms in CS.

  6. Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.

    Science.gov (United States)

    Schell, U; Hehr, A; Feldman, G J; Robin, N H; Zackai, E H; de Die-Smulders, C; Viskochil, D H; Stewart, J M; Wolff, G; Ohashi, H

    1995-03-01

    Pfeiffer syndrome (PS) is an autosomal dominant skeletal disorder which affects the bones of the skull, hands and feet. Previously, we have mapped PS in a subset of families to chromosome 8cen by linkage analysis and demonstrated a common mutation in the fibroblast growth factor receptor-1 (FGFR1) gene in the linked families. Here we report a second locus for PS on chromosome 10q25, and present evidence that mutations in the fibroblast growth factor receptor-2 (FGFR2) gene on 10q25 cause PS in an additional subset of familial and sporadic cases. Three different point mutations in FGFR2, which alter the same acceptor splice site of exon B, were observed in both sporadic and familial PS. In addition, a T to C transition in exon B predicting a cysteine to arginine substitution was identified in three sporadic PS individuals. Interestingly, this T to C change is identical to a mutation in FGFR2 previously reported in Crouzon syndrome, a phenotypically similar disorder but one lacking the hand and foot anomalies seen in PS. Our results highlight the genetic heterogeneity in PS and suggest that the molecular data will be an important complement to the clinical phenotype in defining craniosynostosis syndromes.

  7. [Stevens-Johnson syndrome plus intrahepatic cholestasis caused by clindamycin or chlorpheniramine].

    Science.gov (United States)

    Sahagún Flores, J E; Soto Ortiz, J A; Tovar Méndez, C E; Cárdenas Ochoa, E C; Hernández Flores, G

    2009-05-15

    A 48-year-old woman was hospitalized with the diagnosis of hepatitis. She presented with symptoms of jaundice, headache, elevated bilirubin, and elevated hepatic enzymes. She related a recent episode of a bronchial infection that was treated during the previous eight days with paracetamol (500mg, 2 doses only), chlorpheniramine, betamethasone and clindamycin. After an initial clinical and laboratorial improvement, she began to complain of pruritus of the palms and soles. Thereafter, vesicles evolving to blisters developed and a deterioration of her general health ensued. Serologies for hepatitis A, B, and C viruses were negative. Intrahepatic cholestasis and Stevens Johnson Syndrome (SJS) were the final diagnosis. The association of the Stevens Johnson Syndrome and intrahepatic cholestasis simultaneously, related to adverse drug reactions, is very rare. The drugs reportedly involved are mainly antibiotics, such as ampicillin, vancomycin, amoxicillin/clavulinic acid and erythromycin. Other drugs involved are non-steroidal anti-inflamatory drugs, such as mefenamic acid, ibuprofen, and sulindac. The reactions can be minor or severe and can even cause death, an outcome that has been reported in patients of all races and ethnic groups, but appears to be more rare in patients of Latin origin. We present a discussion of this case and review the main characteristics of the Stevens Johnson Syndrome.

  8. Stevens-Johnson syndrome caused by a health drink (Eberu) containing ophiopogonis tuber.

    Science.gov (United States)

    Mochitomi, Y; Inoue, A; Kawabata, H; Ishida, S; Kanzaki, T

    1998-10-01

    Stevens-Johnson syndrome is considered to be a severe type of erythema exsudativum multiforme. It is characterized by erythema with bullous and eroded lesions of skin and mucous membranes. We report a case of Steven-Johnson syndrome following consumption of a health drink containing ophiopogonis tuber. A 66-year-old female took an O.T.C. health drink for fever. The next morning, she noted erythema and swelling of her face, neck, and chest. She started to develop bullous and eroded lesions on the skin of her entire body and the mucous membranes of her oral cavity, conjunctiva, and cornea, and she became feverish. She had high degrees of corneal erosion and liver dysfunction. Skin biopsy showed diffuse necrosis of the epidermis. After admission to the hospital, steroid pulse therapy (1000 mg/day of methylprednisolone sodium succinate) was continued for 5 days. The health drink induced a positive drug lymphocyte stimulation test (DLST) and patch test. A challenge test was done with a one hundredth dose, and it was positive. We did patch tests with all components of the drink and found that Mai-Meu-Dong-Tang (ophiopogonis) alone was positive at 72 hours. There is no previous report of Stevens-Johnson syndrome caused by a health drink or Mai-Meu-Dong-Tang. Even though it is a health drink, we should be aware of the possibility of a severe reaction.

  9. Hepatitis E as a cause of acute jaundice syndrome in northern Uganda, 2010-2012.

    Science.gov (United States)

    Gerbi, Gemechu B; Williams, Roxanne; Bakamutumaho, Barnabas; Liu, Stephen; Downing, Robert; Drobeniuc, Jan; Kamili, Saleem; Xu, Fujie; Holmberg, Scott D; Teshale, Eyasu H

    2015-02-01

    Hepatitis E virus (HEV) is a common cause of acute viral hepatitis in developing countries; however, its contribution to acute jaundice syndrome is not well-described. A large outbreak of hepatitis E occurred in northern Uganda from 2007 to 2009. In response to this outbreak, acute jaundice syndrome surveillance was established in 10 district healthcare facilities to determine the proportion of cases attributable to hepatitis E. Of 347 acute jaundice syndrome cases reported, the majority (42%) had hepatitis E followed by hepatitis B (14%), malaria (10%), hepatitis C (5%), and other/unknown (29%). Of hepatitis E cases, 72% occurred in Kaboong district, and 68% of these cases occurred between May and August of 2011. Residence in Kaabong district was independently associated with hepatitis E (adjusted odds ratio = 13; 95% confidence interval = 7-24). The findings from this surveillance show that an outbreak and sporadic transmission of hepatitis E occur in northern Uganda. © The American Society of Tropical Medicine and Hygiene.

  10. A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle.

    Science.gov (United States)

    Agerholm, Jørgen S; McEvoy, Fintan J; Heegaard, Steffen; Charlier, Carole; Jagannathan, Vidhya; Drögemüller, Cord

    2017-08-02

    Surveillance for bovine genetic diseases in Denmark identified a hitherto unreported congenital syndrome occurring among progeny of a Holstein sire used for artificial breeding. A genetic aetiology due to a dominant inheritance with incomplete penetrance or a mosaic germline mutation was suspected as all recorded cases were progeny of the same sire. Detailed investigations were performed to characterize the syndrome and to reveal its cause. Seven malformed calves were submitted examination. All cases shared a common morphology with the most striking lesions being severe facial dysplasia and complete prolapse of the eyes. Consequently the syndrome was named facial dysplasia syndrome (FDS). Furthermore, extensive brain malformations, including microencephaly, hydrocephalus, lobation of the cerebral hemispheres and compression of the brain were present. Subsequent data analysis of progeny of the sire revealed that around 0.5% of his offspring suffered from FDS. High density single nucleotide polymorphism (SNP) genotyping data of the seven cases and their parents were used to map the defect in the bovine genome. Significant genetic linkage was obtained for three regions, including chromosome 26 where whole genome sequencing of a case-parent trio revealed two de novo variants perfectly associated with the disease: an intronic SNP in the DMBT1 gene and a single non-synonymous variant in the FGFR2 gene. This FGFR2 missense variant (c.927G>T) affects a gene encoding a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and across species. It is predicted to change an evolutionary conserved tryptophan into a cysteine residue (p.Trp309Cys). Both variant alleles were proven to result from de novo mutation events in the germline of the sire. FDS is a novel genetic disorder of Holstein cattle. Mutations in the human FGFR2 gene are associated with various dominant inherited craniofacial dysostosis syndromes. Given

  11. Fanconi syndrome

    Science.gov (United States)

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

  12. [Early diagnosis and treatment of compartment syndrome caused by landslides:a report of 20 cases].

    Science.gov (United States)

    Xie, Hong-Bo; Peng, Zi-Lai; Liu, Xu-Bang; Chen, Lian

    2012-01-01

    To summarize early diagnosis and treatment methods of 20 patients with compartment syndrome caused by landslides during coal mine accidents in order to improve the level of diagnosis and treatment of compartment syndrome and reduce disability. From September 2006 to April 2010,20 patients with compartment syndrome were treated with the methods of early decompression, systemic support. All the patients were male with an average age of 42 years (ranged, 23 to 54). All the patients with high tension limb swelling, pain, referred pain passive positive; 5 extremities feeling diminish or disappear and the distal blood vessel beat were normal or weakened or disappeared; myoglobinuria, hyperkalemia, serum urea nitrogen and creatinine increased in 5 cases and oliguria in occurred 1 case. The function of affected limbs was observed according to disability ratings. Three cases complicated with infection of affected limb and 6 cases occurred with renal function insufficiency. Total recovery was in 16 cases, basically recovery in 3, amputation in 1 case. All patients were followed up for 6-15 months with an average of 12 months. The ability to work according to national standard identification--Employee work-related injuries and occupational disability rating classification (GB/T16180-2006) to assess, grade 5 was in 1 case, grade 8 in 2 cases, grade 10 in 1 case, no grade in 16 cases. Arteriopalmus of dorsalis pedis weaken and vanished can not be regard as an evidence in early diagnosis of compartment syndrome. Early diagnosis and decompression, systemic support and treatment is the key in reducing disability.

  13. A New Potential Cause in the Development of Toxic Anterior Segment Syndrome: Fibrin Glue

    Directory of Open Access Journals (Sweden)

    Selçuk Sızmaz

    2014-08-01

    Full Text Available Objectives: To present a potential cause for toxic anterior segment syndrome (TASS. Materials and Methods: We report 4 cases of TASS that occurred following uneventful phacoemulsification and intraocular lens implantation. Results: The 4 cases were the first consecutive 2 cases of 2 different surgery days, 5 months apart. The most prominent sign of TASS was limbus-to-limbus corneal edema. Pain and/or intraocular pressure rise were also common. All surgical and presurgical procedures were checked after the first outbreak, whereas the second outbreak required further investigation. Fibrin glue remnants from preceding pterygium surgery with conjunctival autografting were found to be the potential cause. Despite intensive corticosteroid therapy, corneal edema did not resolve in 2 patients who underwent keratoplasty. Conclusion: TASS is a sight-threatening condition which requires thorough investigation for prevention of new cases. All steps must be carefully revised. (Turk J Ophthalmol 2014; 44: 280-3

  14. Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome

    Science.gov (United States)

    Lynch, Danielle C.; Revil, Timothée; Schwartzentruber, Jeremy; Bhoj, Elizabeth J.; Innes, A. Micheil; Lamont, Ryan E.; Lemire, Edmond G.; Chodirker, Bernard N.; Taylor, Juliet P.; Zackai, Elaine H.; McLeod, D. Ross; Kirk, Edwin P.; Hoover-Fong, Julie; Fleming, Leah; Savarirayan, Ravi; Boycott, Kym; MacKenzie, Alex; Brudno, Michael; Bulman, Dennis; Dyment, David; Majewski, Jacek; Jerome-Majewska, Loydie A.; Parboosingh, Jillian S.; Bernier, Francois P.

    2014-01-01

    Elucidating the function of highly conserved regulatory sequences is a significant challenge in genomics today. Certain intragenic highly conserved elements have been associated with regulating levels of core components of the spliceosome and alternative splicing of downstream genes. Here we identify mutations in one such element, a regulatory alternative exon of SNRPB as the cause of cerebro–costo–mandibular syndrome. This exon contains a premature termination codon that triggers nonsense-mediated mRNA decay when included in the transcript. These mutations cause increased inclusion of the alternative exon and decreased overall expression of SNRPB. We provide evidence for the functional importance of this conserved intragenic element in the regulation of alternative splicing and development, and suggest that the evolution of such a regulatory mechanism has contributed to the complexity of mammalian development. PMID:25047197

  15. Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.

    Science.gov (United States)

    Lynch, Danielle C; Revil, Timothée; Schwartzentruber, Jeremy; Bhoj, Elizabeth J; Innes, A Micheil; Lamont, Ryan E; Lemire, Edmond G; Chodirker, Bernard N; Taylor, Juliet P; Zackai, Elaine H; McLeod, D Ross; Kirk, Edwin P; Hoover-Fong, Julie; Fleming, Leah; Savarirayan, Ravi; Majewski, Jacek; Jerome-Majewska, Loydie A; Parboosingh, Jillian S; Bernier, Francois P

    2014-07-22

    Elucidating the function of highly conserved regulatory sequences is a significant challenge in genomics today. Certain intragenic highly conserved elements have been associated with regulating levels of core components of the spliceosome and alternative splicing of downstream genes. Here we identify mutations in one such element, a regulatory alternative exon of SNRPB as the cause of cerebro-costo-mandibular syndrome. This exon contains a premature termination codon that triggers nonsense-mediated mRNA decay when included in the transcript. These mutations cause increased inclusion of the alternative exon and decreased overall expression of SNRPB. We provide evidence for the functional importance of this conserved intragenic element in the regulation of alternative splicing and development, and suggest that the evolution of such a regulatory mechanism has contributed to the complexity of mammalian development.

  16. Laparoscopic treatment of median arcuate ligament syndrome: A rare cause of chronic severe abdominal pain

    Directory of Open Access Journals (Sweden)

    Emre Divarci

    2017-01-01

    Full Text Available Median arcuate ligament syndrome is a rare disorder characterized by chronic postprandial abdominal pain and weight loss caused by compression on celiac artery. A 17-year-old girl with chronic severe abdominal pain and weight loss was referred to our clinic. Other causes of chronic abdominal pain were investigated and excluded. The compression on celiac artery was detected on Doppler ultrasound and diagnosis was confirmed by computed tomography angiography. The patient underwent laparoscopic release of median arcuate ligament. There were no intraoperative complications; however, partial pain response was observed postoperatively that necessitated para-spinal ganglion blockage. The patient is symptom-free in 1-year follow-up period.

  17. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

    DEFF Research Database (Denmark)

    Jansen, Sandra; Hoischen, Alexander; Coe, Bradley P

    2018-01-01

    disease causality. We have performed a MIP (molecular inversion probe)-based targeted re-sequencing study in 3,275 individuals with intellectual disability (ID) to facilitate a genotype-first approach for 24 genes previously implicated in ID.Combining our data with data from a publicly available database...... the associated phenotype. Remarkably, all 23 individuals had developmental delay/ID and the majority were overweight or obese. Other features comprised behavioral problems (hyperactivity, aggression, features of autism and/or mood disorder) and dysmorphisms (full eyebrows and/or synophrys, upturned nose, large......, and not NDRP, as the underlying cause of the phenotype.Thus, we demonstrated the use of large scale re-sequencing by MIPs, followed by reverse phenotyping, as a constructive approach to verify candidate disease genes and identify novel syndromes, highlighted by PHIP haploinsufficiency causing an ID...

  18. Ritonavir and epidural triamcinolone as a cause of iatrogenic Cushing's syndrome.

    Science.gov (United States)

    Albert, Nicole E; Kazi, Saifullah; Santoro, Jerome; Dougherty, Rebecca

    2012-07-01

    Ritonavir is a protease inhibitor (PI) frequently prescribed with highly active antiretroviral therapy. It functions to boost the effectiveness of other PIs as a result of blocking their breakdown by the cytochrome P450 (3A4) pathway. Through this same mechanism, ritonavir has been shown to cause iatrogenic Cushing's syndrome (ICS) in patients using inhaled fluticasone. In addition, a small number of recent cases suggest that ritonavir may also cause this disorder by prolonging the duration of injected corticosteroids, such as triamcinolone. This case report presents a human immunodeficiency virus (HIV) patient taking ritonavir with ICS and secondary adrenal insufficiency, presumably due to systemic absorption and decreased metabolism of an epidural triamcinolone injection. To the authors knowledge, there have only been 4 previously reported cases describing ritonavir-potentiating ICS after receiving a corticosteroid epidural. This provides further proof that caution should be taken with nonparenteral use of triamcinolone in HIV patients on PIs.

  19. KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function.

    Science.gov (United States)

    Reichold, Markus; Zdebik, Anselm A; Lieberer, Evelyn; Rapedius, Markus; Schmidt, Katharina; Bandulik, Sascha; Sterner, Christina; Tegtmeier, Ines; Penton, David; Baukrowitz, Thomas; Hulton, Sally-Anne; Witzgall, Ralph; Ben-Zeev, Bruria; Howie, Alexander J; Kleta, Robert; Bockenhauer, Detlef; Warth, Richard

    2010-08-10

    Mutations of the KCNJ10 (Kir4.1) K(+) channel underlie autosomal recessive epilepsy, ataxia, sensorineural deafness, and (a salt-wasting) renal tubulopathy (EAST) syndrome. We investigated the localization of KCNJ10 and the homologous KCNJ16 in kidney and the functional consequences of KCNJ10 mutations found in our patients with EAST syndrome. Kcnj10 and Kcnj16 were found in the basolateral membrane of mouse distal convoluted tubules, connecting tubules, and cortical collecting ducts. In the human kidney, KCNJ10 staining was additionally observed in the basolateral membrane of the cortical thick ascending limb of Henle's loop. EM of distal tubular cells of a patient with EAST syndrome showed reduced basal infoldings in this nephron segment, which likely reflects the morphological consequences of the impaired salt reabsorption capacity. When expressed in CHO and HEK293 cells, the KCNJ10 mutations R65P, G77R, and R175Q caused a marked impairment of channel function. R199X showed complete loss of function. Single-channel analysis revealed a strongly reduced mean open time. Qualitatively similar results were obtained with coexpression of KCNJ10/KCNJ16, suggesting a dominance of KCNJ10 function in native renal KCNJ10/KCNJ16 heteromers. The decrease in the current of R65P and R175Q was mainly caused by a remarkable shift of pH sensitivity to the alkaline range. In summary, EAST mutations of KCNJ10 lead to impaired channel function and structural changes in distal convoluted tubules. Intriguingly, the metabolic alkalosis present in patients carrying the R65P mutation possibly improves residual function of KCNJ10, which shows higher activity at alkaline pH.

  20. Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease

    Directory of Open Access Journals (Sweden)

    Lorena Suarez-Artiles

    2018-01-01

    Full Text Available Mutations in the OCRL gene are associated with both Lowe syndrome and Dent-2 disease. Patients with Lowe syndrome present congenital cataracts, mental disabilities and a renal proximal tubulopathy, whereas patients with Dent-2 disease exhibit similar proximal tubule dysfunction but only mild, or no additional clinical defects. It is not yet understood why some OCRL mutations cause the phenotype of Lowe syndrome, while others develop the milder phenotype of Dent-2 disease. Our goal was to gain new insights into the consequences of OCRL exonic mutations on pre-mRNA splicing. Using predictive bioinformatics tools, we selected thirteen missense mutations and one synonymous mutation based on their potential effects on splicing regulatory elements or splice sites. These mutations were analyzed in a minigene splicing assay. Results of the RNA analysis showed that three presumed missense mutations caused alterations in pre-mRNA splicing. Mutation c.741G>T; p.(Trp247Cys generated splicing silencer sequences and disrupted splicing enhancer motifs that resulted in skipping of exon 9, while mutations c.2581G>A; p.(Ala861Thr and c.2581G>C; p.(Ala861Pro abolished a 5′ splice site leading to skipping of exon 23. Mutation c.741G>T represents the first OCRL exonic variant outside the conserved splice site dinucleotides that results in alteration of pre-mRNA splicing. Our results highlight the importance of evaluating the effects of OCRL exonic mutations at the mRNA level.

  1. Inhaled fluticasone causes iatrogenic cushing's syndrome in patients treated with Ritonavir.

    Science.gov (United States)

    Mahlab-Guri, Keren; Asher, Ilan; Gradstein, Serge; Zung, Amnon; Radian-Sade, Sara; Elbirt, Daniel; Sthoeger, Zev

    2011-10-01

    Ritonavir, a protease inhibitor (PI), is commonly used in the treatment of HIV-1 infection. It is a potent inhibitor of the hepatic cytochrome P450 superfamily. Therefore, its usage with other PI medications leads to significant increases in the levels of the latter PI, which allows a reduction in pill burden. Intranasal and inhaled corticosteroids are widely used for the treatment of allergic rhinitis and asthma. Inhaled steroids do not usually lead to systemic adverse events, since their plasma concentrations are quite low due to extensive first-pass metabolism and clearance by CYP3A4. However, the coadministration of Ritonavir with inhaled (or intranasal) corticosteroids may result in an increase in the plasma corticosteroid levels due to the potent CYP3A4 inhibition by Ritonavir. This may cause Cushing's syndrome (laboratory and clinical) with adrenal suppression. Plasma cortisol and urinary-free cortisol levels were determined using immunoassays. In the Synacthen test, plasma cortisol levels were measured at time 0 as well as at times 60, 120, and 150 minutes following an intramuscular injection of 0.25 mg Synacthen. We present here three HIV-1 female patients aged 12, 55 and 65 years who developed iatrogenic Cushing's syndrome with adrenal suppression following the coadministration of Ritonavir and inhaled Fluticasone, both at the standard recommended doses. The coadministration of Ritonavir and Fluticasone at the recommended doses caused, in our three patients, iatrogenic Cushing's syndrome with adrenal suppression. We suggest that this adverse event is underdiagnosed and high clinical suspicion is needed for early diagnosis and prenention of Addisonian crises. Thus, Fluticasone treatment should be avoided in patients who are treated with Ritonavir. Alternative therapeutic options for asthma control such as oral Montelukast or bronchodilators alone should be considered.

  2. [Primary Neuroendocrine Carcinoma of Thymus Caused Cushing Syndrome: Surgical Treatment and Prognosis Analysis].

    Science.gov (United States)

    Li, Li; Chen, Yeye; Li, Shanqing; Liu, Hongsheng; Huang, Cheng; Qin, Yingzhi

    2015-07-01

    Primary neuroendocrine carcinoma of thymus (pNECT) is a rare thymic neoplasm. Some pNECTs could produce an adrenocorticotropic hormone and cause Cushing syndrome (CS). The aim os this study is to discuss the diagnostic technique and surgical management of pNECT-caused CS and analyze prognosis factors to improve the clinical experience of the disease. The outcome of surgery and follow-up of 14 cases (eight males and six females) of pNECT-caused CS were retrospectively analyzed from November 1987 to June 2013. The median age of the patients was 29, and the median duration of the disease was four months (1 month-44 months). All cases exhibited clinical evidence for the diagnosis of CS, and thoracic computed tomography (CT) was used to detect thymic tumors. Surgical treatment significantly decreased the concentration of both serum cortisol and adrenocorticotropic hormone (P<0.01) but caused one death in the perioperative period. With multidisciplinary therapy, the median survival was 38 months. pNECT-caused CS is a rare disease with aggressive characteristics and unclear prognosis. Early diagnosis and therapy is a challenge for clinicians. Thoracic CT is important for disease location and preoperative evaluation and should be routinely applied to all CS patients to allow early surgery and improved prognosis.

  3. Optical Coherence Tomography Guidance in Management of Acute Coronary Syndrome Caused by Plaque Erosion.

    Science.gov (United States)

    Jia, Haibo; Kubo, Takashi; Akasaka, Takashi; Yu, Bo

    2018-01-25

    For several decades, most physicians have believed that acute coronary syndrome (ACS) is caused by coronary thrombosis resulting from rupture of vulnerable plaque characterized by a thin fibrous cap overlying a large necrotic core and massive inflammatory cell infiltration. However, nearly one-third of ACS cases are caused by plaque erosion characterized by intact fibrous cap, less or absent necrotic core, less inflammation, and large lumen. Because of the limitations of current imaging modalities, including angiography and intravascular ultrasound, the importance of plaque erosion as a cause of acute coronary events is less well known. Optical coherence tomography (OCT) as an emerging modality with extremely high resolution is the only intravascular imaging modality available for identification of plaque erosion in vivo, which provides new insight into the mechanism of ACS. More importantly, the introduction of OCT to clinical practice enables us to differentiate the patients with ACS caused by plaque erosion from those caused by plaque rupture, thereby providing precise and personalized therapy based on the different underlying mechanisms. We systematically review the morphological characteristics of plaque erosion identified by OCT and its implications for the management of ACS.

  4. Vascular Quadrilateral Space Syndrome in 3 Overhead Throwing Athletes: An Underdiagnosed Cause of Digital Ischemia.

    Science.gov (United States)

    Rollo, Johnathon; Rigberg, David; Gelabert, Hugh

    2017-07-01

    Vascular quadrilateral space syndrome (vQSS) is an underdiagnosed cause of extremity ischemia, pain, and paresthesia in overhand throwing athletes. The mechanism of vQSS is thought to result from repeated abduction and external rotation of the arm leading to a distraction injury of the posterior circumflex humoral artery (PCHA) as this courses through the quadrilateral space. This trauma may cause dissection and dissecting aneurysm formation. Thrombus from this arterial injury then embolizes down the arm resulting in the symptomatic presentation. Patients were often presented after multiple embolic events, which have resulted in obliteration of digital arteries. Later stages of presentation may include ischemic ulceration and gangrene. We report 3 cases of vQSS in overhand throwing athletes. All 3 underwent surgical correction and have returned to competition. We discuss presentation, diagnosis, imaging findings, management, outcomes, and review of the literature. Prompt recognition of this syndrome is essential to optimal treatment, which includes PCHA ligation and division with or without thrombolytic therapy. Increased awareness of vQSS is needed among coaches and athletic trainers who often identify the symptoms and initiate the treatment. When treated promptly, these athletes return to baseline functional status. Copyright © 2017 Elsevier Inc. All rights reserved.

  5. Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

    Science.gov (United States)

    Hood, Rebecca L; Lines, Matthew A; Nikkel, Sarah M; Schwartzentruber, Jeremy; Beaulieu, Chandree; Nowaczyk, Małgorzata J M; Allanson, Judith; Kim, Chong Ae; Wieczorek, Dagmar; Moilanen, Jukka S; Lacombe, Didier; Gillessen-Kaesbach, Gabriele; Whiteford, Margo L; Quaio, Caio Robledo D C; Gomy, Israel; Bertola, Debora R; Albrecht, Beate; Platzer, Konrad; McGillivray, George; Zou, Ruobing; McLeod, D Ross; Chudley, Albert E; Chodirker, Bernard N; Marcadier, Janet; Majewski, Jacek; Bulman, Dennis E; White, Susan M; Boycott, Kym M

    2012-02-10

    Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delayed osseous maturation, expressive-language deficits, and a distinctive facial appearance. Occurrence is generally sporadic, although parent-to-child transmission has been reported on occasion. Employing whole-exome sequencing, we identified heterozygous truncating mutations in SRCAP in five unrelated individuals with sporadic FHS. Sanger sequencing identified mutations in SRCAP in eight more affected persons. Mutations were de novo in all six instances in which parental DNA was available. SRCAP is an SNF2-related chromatin-remodeling factor that serves as a coactivator for CREB-binding protein (CREBBP, better known as CBP, the major cause of Rubinstein-Taybi syndrome [RTS]). Five SRCAP mutations, two of which are recurrent, were identified; all are tightly clustered within a small (111 codon) region of the final exon. These mutations are predicted to abolish three C-terminal AT-hook DNA-binding motifs while leaving the CBP-binding and ATPase domains intact. Our findings show that SRCAP mutations are the major cause of FHS and offer an explanation for the clinical overlap between FHS and RTS. Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  6. BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.

    Science.gov (United States)

    Dias, Cristina; Estruch, Sara B; Graham, Sarah A; McRae, Jeremy; Sawiak, Stephen J; Hurst, Jane A; Joss, Shelagh K; Holder, Susan E; Morton, Jenny E V; Turner, Claire; Thevenon, Julien; Mellul, Kelly; Sánchez-Andrade, Gabriela; Ibarra-Soria, Ximena; Deriziotis, Pelagia; Santos, Rui F; Lee, Song-Choon; Faivre, Laurence; Kleefstra, Tjitske; Liu, Pentao; Hurles, Mathew E; Fisher, Simon E; Logan, Darren W

    2016-08-04

    Intellectual disability (ID) is a common condition with considerable genetic heterogeneity. Next-generation sequencing of large cohorts has identified an increasing number of genes implicated in ID, but their roles in neurodevelopment remain largely unexplored. Here we report an ID syndrome caused by de novo heterozygous missense, nonsense, and frameshift mutations in BCL11A, encoding a transcription factor that is a putative member of the BAF swi/snf chromatin-remodeling complex. Using a comprehensive integrated approach to ID disease modeling, involving human cellular analyses coupled to mouse behavioral, neuroanatomical, and molecular phenotyping, we provide multiple lines of functional evidence for phenotypic effects. The etiological missense variants cluster in the amino-terminal region of human BCL11A, and we demonstrate that they all disrupt its localization, dimerization, and transcriptional regulatory activity, consistent with a loss of function. We show that Bcl11a haploinsufficiency in mice causes impaired cognition, abnormal social behavior, and microcephaly in accordance with the human phenotype. Furthermore, we identify shared aberrant transcriptional profiles in the cortex and hippocampus of these mouse models. Thus, our work implicates BCL11A haploinsufficiency in neurodevelopmental disorders and defines additional targets regulated by this gene, with broad relevance for our understanding of ID and related syndromes. Copyright © 2016 The Author(s). Published by Elsevier Inc. All rights reserved.

  7. Congenital Hereditary Endothelial Dystrophy Caused by SLC4A11 Mutations Progresses to Harboyan Syndrome

    Science.gov (United States)

    Siddiqui, Salina; Zenteno, Juan Carlos; Rice, Aine; Chacón-Camacho, Oscar; Naylor, Steven G.; Rivera-de la Parra, David; Spokes, David M.; James, Nigel; Toomes, Carmel; Inglehearn, Chris F.

    2013-01-01

    Purpose: Homozygous mutations in SLC4A11 cause 2 rare recessive conditions: congenital hereditary endothelial dystrophy (CHED), affecting the cornea alone, and Harboyan syndrome consisting of corneal dystrophy and sensorineural hearing loss. In addition, adult-onset Fuchs endothelial corneal dystrophy (FECD) is associated with dominant mutations in SLC4A11. In this report, we investigate whether patients with CHED go on to develop hearing loss and whether their parents, who are carriers of an SLC4A11 mutation, show signs of having FECD. Methods: Patients with CHED were screened for mutations in the SLC4A11 gene and underwent audiometric testing. The patients and their parents underwent a clinical examination and specular microscopy. Results: Molecular analyses confirmed SLC4A11 mutations in 4 affected individuals from 3 families. All the patients were found to have varying degrees of sensorineural hearing loss at a higher frequency range. Guttate lesions were seen in 2 of the 4 parents who were available for examination. Conclusions: Our observations suggest that CHED caused by homozygous SLC4A11 mutations progresses to Harboyan syndrome, but the severity of this may vary considerably. Patients with CHED should therefore be monitored for progressive hearing loss. We could not determine conclusively whether the parents of the patients with CHED were at increased risk of developing late-onset FECD. PMID:24351571

  8. A mutation causing Alport syndrome with tardive hearing loss is common in the western United States

    Energy Technology Data Exchange (ETDEWEB)

    Barker, D.F.; Denison, J.C.; Atkin, C.L. [Univ. of Utah Health Sciences Center, Salt Lake City, UT (United States)] [and others

    1996-06-01

    Mutations in the COL4A5 gene, located at Xq22, cause Alport syndrome (AS), a nephritis characterized by progressive deterioration of the glomerular basement membrane and usually associated with progressive hearing loss. We have identified a novel mutation, L1649R, present in 9 of 121 independently ascertained families. Affected males shared the same haplotype of eight polymorphic markers tightly linked to COL4A5, indicating common ancestry. Genealogical studies place the birth of this ancestor >200 years ago. The L1649R mutation is a relatively common cause of Alport syndrome in the western United States, in part because of the rapid growth and migratory expansion of mid-nineteenth-century pioneer populations carrying the gene. L1649R affects a highly conserved residue in the NC1 domain, which is involved in key inter- and intramolecular interactions, but results in a relatively mild disease phenotype. Renal failure in an L1649R male typically occurs in the 4th or 5th decade and precedes the onset of significant hearing loss by {approximately}10 years. 45 refs., 5 figs.

  9. Systemic 5-fluorouracil treatment causes a syndrome of delayed myelin destruction in the central nervous system

    Directory of Open Access Journals (Sweden)

    Han Ruolan

    2008-04-01

    Full Text Available Abstract Background Cancer treatment with a variety of chemotherapeutic agents often is associated with delayed adverse neurological consequences. Despite their clinical importance, almost nothing is known about the basis for such effects. It is not even known whether the occurrence of delayed adverse effects requires exposure to multiple chemotherapeutic agents, the presence of both chemotherapeutic agents and the body's own response to cancer, prolonged damage to the blood-brain barrier, inflammation or other such changes. Nor are there any animal models that could enable the study of this important problem. Results We found that clinically relevant concentrations of 5-fluorouracil (5-FU; a widely used chemotherapeutic agent were toxic for both central nervous system (CNS progenitor cells and non-dividing oligodendrocytes in vitro and in vivo. Short-term systemic administration of 5-FU caused both acute CNS damage and a syndrome of progressively worsening delayed damage to myelinated tracts of the CNS associated with altered transcriptional regulation in oligodendrocytes and extensive myelin pathology. Functional analysis also provided the first demonstration of delayed effects of chemotherapy on the latency of impulse conduction in the auditory system, offering the possibility of non-invasive analysis of myelin damage associated with cancer treatment. Conclusions Our studies demonstrate that systemic treatment with a single chemotherapeutic agent, 5-FU, is sufficient to cause a syndrome of delayed CNS damage and provide the first animal model of delayed damage to white-matter tracts of individuals treated with systemic chemotherapy. Unlike that caused by local irradiation, the degeneration caused by 5-FU treatment did not correlate with either chronic inflammation or extensive vascular damage and appears to represent a new class of delayed degenerative damage in the CNS.

  10. Domain analyses of Usher syndrome causing Clarin-1 and GPR98 protein models.

    Science.gov (United States)

    Khan, Sehrish Haider; Javed, Muhammad Rizwan; Qasim, Muhammad; Shahzadi, Samar; Jalil, Asma; Rehman, Shahid Ur

    2014-01-01

    Usher syndrome is an autosomal recessive disorder that causes hearing loss, Retinitis Pigmentosa (RP) and vestibular dysfunction. It is clinically and genetically heterogeneous disorder which is clinically divided into three types i.e. type I, type II and type III. To date, there are about twelve loci and ten identified genes which are associated with Usher syndrome. A mutation in any of these genes e.g. CDH23, CLRN1, GPR98, MYO7A, PCDH15, USH1C, USH1G, USH2A and DFNB31 can result in Usher syndrome or non-syndromic deafness. These genes provide instructions for making proteins that play important roles in normal hearing, balance and vision. Studies have shown that protein structures of only seven genes have been determined experimentally and there are still three genes whose structures are unavailable. These genes are Clarin-1, GPR98 and Usherin. In the absence of an experimentally determined structure, homology modeling and threading often provide a useful 3D model of a protein. Therefore in the current study Clarin-1 and GPR98 proteins have been analyzed for signal peptide, domains and motifs. Clarin-1 protein was found to be without any signal peptide and consists of prokar lipoprotein domain. Clarin-1 is classified within claudin 2 super family and consists of twelve motifs. Whereas, GPR98 has a 29 amino acids long signal peptide and classified within GPCR family 2 having Concanavalin A-like lectin/glucanase superfamily. It was found to be consists of GPS and G protein receptor F2 domains and twenty nine motifs. Their 3D structures have been predicted using I-TASSER server. The model of Clarin-1 showed only α-helix but no beta sheets while model of GPR98 showed both α-helix and β sheets. The predicted structures were then evaluated and validated by MolProbity and Ramachandran plot. The evaluation of the predicted structures showed 78.9% residues of Clarin-1 and 78.9% residues of GPR98 within favored regions. The findings of present study has resulted in the

  11. Abdominal compartment syndrome caused by ruptured abdominal aortic aneurysm in vena cava

    Directory of Open Access Journals (Sweden)

    Filipović Aleksandar

    2006-01-01

    Full Text Available Background. Abdominal compartment syndrome (ACS is a rapid increase in intra-abdominal pressure associated with multi-organs dysfunction. It is caused mostly by abdominal bleeding und massive volume compensation. Case report. We reported a 76-year-old patient admitted to the hospital with aortic abdominal aneurysm, 13.7 cm in diameter, ruptured in vena cava, which caused intraabdominal hypertension, the liver and kidney dysfunction, as well as circulation, respiration and metabolic disorders. Intraabdominal pressure was measured by bladder manometry. Central venous pressure and systemic arterial pressure were monitored continuously. Clinical signs were thrill and typical abdominal bruit. Aorto-caval fistula was diagnosed by the use of contrast computerized tomography. Caval endoaneurysmatic suture and aortobiiliac bypass with 18 × 9 mm Dacron prothesis were performed. Haemodynamic changes were mostly corrected during the surgery. The complete correction of haemodynamics, liver, kidney, respiration and metabolic changes was established in the next few weeks. Conclusion. The ACS was caused by rupture of abdominal aortic aneurysm in vena cava followed by edema of the abdominal organs, retroperitoneum, abdominal wall and ascites. Caval endoaneurysmatic suture and aortobiiliac bypass with 18 × 9 mm Dacron prothesis solved aortocaval fistula as well as all the organs and metabolic dysfunctions caused by ACS.

  12. Causes of death in patients with asthma and asthma–chronic obstructive pulmonary disease overlap syndrome

    Science.gov (United States)

    Harada, Tomoya; Yamasaki, Akira; Fukushima, Takehito; Hashimoto, Kiyoshi; Takata, Miki; Kodani, Masahiro; Okazaki, Ryota; Takeda, Kenichi; Watanabe, Masanari; Kurai, Jun; Shimizu, Eiji

    2015-01-01

    Background The administration of inhaled corticosteroids and worldwide usage of several asthma guidelines have improved asthma mortality. Elderly patients with asthma show high mortality rates, and may have several comorbidities, including overlap with chronic obstructive pulmonary disease (COPD). Among patients showing asthma overlapped with COPD (asthma–COPD overlap syndrome; ACOS), mortality is worse than for asthma alone. Therefore, we investigated comorbidities, malignancies, and causes of death in patients with asthma and ACOS. Methods This was a retrospective study. From January 2000 to March 2012, 650 patients were followed up at Tottori University Hospital. Medical records were reviewed to collect data regarding patient characteristics and comorbidities, and causes of death were recorded for patients who died during the study period. Results Eighty-seven patients died during the study period. The most frequent cause of death was malignancy. The proportion of malignant disease was 21.7% in all patients, 19.4% in patients with asthma alone, and 32.4% in patients with ACOS. One patient died from an asthma attack during this period. Conclusion The most frequent cause of death in patients with asthma and ACOS was malignant disease. It is necessary to control not only asthma but also comorbidities in patients with asthma, especially in those with ACOS. PMID:25834418

  13. Causes of death in patients with asthma and asthma-chronic obstructive pulmonary disease overlap syndrome.

    Science.gov (United States)

    Harada, Tomoya; Yamasaki, Akira; Fukushima, Takehito; Hashimoto, Kiyoshi; Takata, Miki; Kodani, Masahiro; Okazaki, Ryota; Takeda, Kenichi; Watanabe, Masanari; Kurai, Jun; Shimizu, Eiji

    2015-01-01

    The administration of inhaled corticosteroids and worldwide usage of several asthma guidelines have improved asthma mortality. Elderly patients with asthma show high mortality rates, and may have several comorbidities, including overlap with chronic obstructive pulmonary disease (COPD). Among patients showing asthma overlapped with COPD (asthma-COPD overlap syndrome; ACOS), mortality is worse than for asthma alone. Therefore, we investigated comorbidities, malignancies, and causes of death in patients with asthma and ACOS. This was a retrospective study. From January 2000 to March 2012, 650 patients were followed up at Tottori University Hospital. Medical records were reviewed to collect data regarding patient characteristics and comorbidities, and causes of death were recorded for patients who died during the study period. Eighty-seven patients died during the study period. The most frequent cause of death was malignancy. The proportion of malignant disease was 21.7% in all patients, 19.4% in patients with asthma alone, and 32.4% in patients with ACOS. One patient died from an asthma attack during this period. The most frequent cause of death in patients with asthma and ACOS was malignant disease. It is necessary to control not only asthma but also comorbidities in patients with asthma, especially in those with ACOS.

  14. Síndrome oculoglandular de Parinaud causada por esporotricose Parinaud's oculoglandular syndrome caused by Sporotrichosis

    Directory of Open Access Journals (Sweden)

    Alexandre Sampaio de Abreu Ribeiro

    2010-10-01

    Full Text Available A síndrome oculoglandular de Parinaud é uma doença ocular rara causada por diferentes agentes etiológicos, entre eles bactérias, vírus e fungos. É caracterizada por uma conjuntivite granulomatosa, acompanhada de linfadenopatia pré-auricular adjacente e pode trazer sequelas caso não seja prontamente tratada. Neste artigo é relatado o caso de uma jovem técnica de enfermagem e estudante de medicina veterinária apresentando a síndrome oculoglandular de Parinaud causada pelo fungo Sporothrix schenkii após contaminação com gatos infectados. Sua apresentação clínica e evolução desfavorável até o correto diagnóstico etiológico e instituição do tratamento específico, ressaltam a importância da investigação laboratorial em casos de evolução atípica da doença.Parinaud's oculoglandular syndrome is a rare eye disease caused by different pathogens, including bacteria, viruses and fungi. It is characterized by a granulomatous conjunctivitis with adjacent preauricular lympha-denopathy and can cause sequelae if not promptly treated. We report a case of a young nurse assistant and veterinary student showing Parinaud's oculoglandular syndrome caused by the fungus Sporothrix schenkii after contamination with infected cats. Its clinical presentation and negative outcome until the correct ethiological diagnosis, in addition to specific treatment, emphasize the importance of laboratory investigations in cases of atypical development of the disease.

  15. Crigler-Najjar syndrome type I in a Turkish newborn caused by a novel mutation and Gilbert type genetic defect.

    Science.gov (United States)

    Yildiz, D; Alan, S; Kilic, A; Yaman, A; Erdeve, O; Kuloglu, Z; Atasay, B; Arsan, S

    2013-01-01

    Crigler-Najjar syndrome (CNS), caused by deficiency of bilirubin uridine diphosphate glucuronosyltransferase (UGT) 1A1, is a rare and autosomal recessive inherited disorder characterized by severe unconjugated nonhemolytic hyperbilirubinemia since birth. We present a girl with CNS type I caused by a novel mutation and Gilbert type genetic defect. Gilbert's Syndrome (GS) and CNS type I both involve abnormalities in bilirubin conjugation secondary to deficiency of bilirubin UGT. The combined defects even in benign genetic forms were shown to cause more serious clinical disease. The patient has been treated with daily home-based phototherapy for more than nine months and considered as a candidate for liver transplantation.

  16. Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy.

    Science.gov (United States)

    Gerber, Sylvie; Ding, Martina G; Gérard, Xavier; Zwicker, Klaus; Zanlonghi, Xavier; Rio, Marlène; Serre, Valérie; Hanein, Sylvain; Munnich, Arnold; Rotig, Agnès; Bianchi, Lucas; Amati-Bonneau, Patrizia; Elpeleg, Orly; Kaplan, Josseline; Brandt, Ulrich; Rozet, Jean-Michel

    2017-05-01

    Non-syndromic hereditary optic neuropathy (HON) has been ascribed to mutations in mitochondrial fusion/fission dynamics genes, nuclear and mitochondrial DNA-encoded respiratory enzyme genes or nuclear genes of poorly known mitochondrial function. However, the disease causing gene remains unknown in many families. The objective of the present study was to identify the molecular cause of non-syndromic LHON-like disease in siblings born to non-consanguineous parents of French origin. We used a combination of genetic analysis (gene mapping and whole-exome sequencing) in a multiplex family of non-syndromic HON and of functional analyses in patient-derived cultured skin fibroblasts and the yeast Yarrowia lipolytica. We identified compound heterozygote NDUFS2 disease-causing mutations (p.Tyr53Cys; p.Tyr308Cys). Studies using patient-derived cultured skin fibroblasts revealed mildly decreased NDUFS2 and complex I abundance but apparently normal respiratory chain activity. In the yeast Y. lipolytica ortholog NUCM, the mutations resulted in absence of complex I and moderate reduction in nicotinamide adenine dinucleotide-ubiquinone oxidoreductase activity, respectively. Biallelism for NDUFS2 mutations causing severe complex I deficiency has been previously reported to cause Leigh syndrome with optic neuropathy. Our results are consistent with the view that compound heterozygosity for severe and hypomorphic NDUFS2 mutations can cause non-syndromic HON. This observation suggests a direct correlation between the severity of NDUFS2 mutations and that of the disease and further support that there exist a genetic overlap between non-syndromic and syndromic HON due to defective mitochondrial function. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  17. Observational cohort study of ventricular arrhythmia in adults with Marfan syndrome caused by FBN1 mutations.

    Directory of Open Access Journals (Sweden)

    Ali Aydin

    Full Text Available Marfan syndrome is associated with ventricular arrhythmia but risk factors including FBN1 mutation characteristics require elucidation.We performed an observational cohort study of 80 consecutive adults (30 men, 50 women aged 42±15 years with Marfan syndrome caused by FBN1 mutations. We assessed ventricular arrhythmia on baseline ambulatory electrocardiography as >10 premature ventricular complexes per hour (>10 PVC/h, as ventricular couplets (Couplet, or as non-sustained ventricular tachycardia (nsVT, and during 31±18 months of follow-up as ventricular tachycardia (VT events (VTE such as sudden cardiac death (SCD, and sustained ventricular tachycardia (sVT. We identified >10 PVC/h in 28 (35%, Couplet/nsVT in 32 (40%, and VTE in 6 patients (8%, including 3 with SCD (4%. PVC>10/h, Couplet/nsVT, and VTE exhibited increased N-terminal pro-brain natriuretic peptide serum levels(P10/h and Couplet/nsVT also related to increased indexed end-systolic LV diameters (P = .024 and P = .020, to moderate mitral valve regurgitation (P = .018 and P = .003, and to prolonged QTc intervals (P = .001 and P = .006, respectively. Moreover, VTE related to mutations in exons 24-32 (P = .021. Kaplan-Meier analysis corroborated an association of VTE with increased NT-proBNP (P<.001 and with mutations in exons 24-32 (P<.001.Marfan syndrome with causative FBN1 mutations is associated with an increased risk for arrhythmia, and affected persons may require life-long monitoring. Ventricular arrhythmia on electrocardiography, signs of myocardial dysfunction and mutations in exons 24-32 may be risk factors of VTE.

  18. Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.

    Science.gov (United States)

    Frank, Valeska; den Hollander, Anneke I; Brüchle, Nadina Ortiz; Zonneveld, Marijke N; Nürnberg, Gudrun; Becker, Christian; Du Bois, Gabriele; Kendziorra, Heide; Roosing, Susanne; Senderek, Jan; Nürnberg, Peter; Cremers, Frans P M; Zerres, Klaus; Bergmann, Carsten

    2008-01-01

    Meckel-Gruber syndrome (MKS) is an autosomal recessive, lethal multisystemic disorder characterized by meningooccipital encephalocele, cystic kidney dysplasia, hepatobiliary ductal plate malformation, and postaxial polydactyly. Recently, genes for MKS1 and MKS3 were identified, putting MKS on the list of ciliary disorders (ciliopathies). By positional cloning in a distantly related multiplex family, we mapped a novel locus for MKS to a 3-Mb interval on 12q21. Sequencing of the CEP290 gene located in the minimal critical region showed a homozygous 1-bp deletion supposed to lead to loss of function of the encoded centrosomal protein CEP290/nephrocystin-6. CEP290 is thought to be involved in chromosome segregation and localizes to cilia, centrosomes, and the nucleus. Subsequent analysis of another consanguineous multiplex family revealed homozygous haplotypes and the same frameshift mutation. Our findings add to the increasing body of evidence that ciliopathies can cause a broad spectrum of disease phenotypes, and pleiotropic effects of CEP290 mutations range from single organ involvement with isolated Leber congenital amaurosis to Joubert syndrome and lethal early embryonic multisystemic malformations in Meckel-Gruber syndrome. We compiled clinical and genetic data of all patients with CEP290 mutations described so far. No clear-cut genotype-phenotype correlations were apparent as almost all mutations are nonsense, frameshift, or splice-site changes and scattered throughout the gene irrespective of the patients' phenotypes. Conclusively, other factors than the type and location of CEP290 mutations may underlie phenotypic variability. (c) 2007 Wiley-Liss, Inc.

  19. Elizabeth Warrington Prize Lecture. Seeing why they cannot see: understanding the syndrome and causes of posterior cortical atrophy.

    Science.gov (United States)

    Crutch, Sebastian J

    2014-09-01

    Posterior cortical atrophy (PCA) is a syndrome defined by focal neurodegeneration of the parietal, occipital, and occipito-temporal cortices and associated with progressive dysfunction of visual processing, praxis, numeracy and reading. The condition is most commonly caused by (and viewed as an atypical presentation of) Alzheimer's disease, although can also be caused by other degenerative diseases. The current paper examines the relationship of PCA to other degenerative syndromes, and considers what comparisons of these syndromes and disease phenotypes can tell us about underlying disease mechanisms. The focus then turns to neuropsychological investigations of the cognitive basis of symptoms which, although unusual in the broader context of a dementia clinic, are particularly characteristic of the PCA syndrome, before exploring implications for clinical management and patient and carer support. © 2013 The British Psychological Society.

  20. Blue toe syndrome treated with sympathectomy in a patient with acute renal failure caused by cholesterol embolization

    Directory of Open Access Journals (Sweden)

    Min-Gang Kim

    2013-12-01

    Full Text Available Blue toe syndrome is the most frequent manifestation of tissue ischemia caused by cholesterol embolization (CE, which can lead to amputation of affected lower extremities, if severe. However, any effective treatment is lacking. We experienced a case of spontaneously presenting blue toe syndrome and concomitant acute renal failure in a patient with multiple atherosclerotic risk factors. CE was confirmed by renal biopsy. Despite medical treatment including prostaglandin therapy and narcotics, the toe lesion progressed to gangrene with worsening ischemic pain. Therefore, we performed lumbar sympathectomy, which provided dramatic pain relief as well as an adequate blood flow to the ischemic lower extremities, resulting in healing of the gangrenous lesion and avoiding toe amputation. This is the first reported case of a patient with intractable ischemic toe syndrome caused by CE that was treated successfully by sympathectomy. Our observations suggest that sympathectomy may be beneficial in some patients with CE-associated blue toe syndrome.

  1. Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.

    Science.gov (United States)

    Ekvall, Sara; Sjörs, Kerstin; Jonzon, Anders; Vihinen, Mauno; Annerén, Göran; Bondeson, Marie-Louise

    2014-03-01

    Neurofibromatosis-Noonan syndrome (NFNS) is a rare condition with clinical features of both neurofibromatosis type 1 (NF1) and Noonan syndrome (NS). All three syndromes belong to the RASopathies, which are caused by dysregulation of the RAS-MAPK pathway. The major gene involved in NFNS is NF1, but co-occurring NF1 and PTPN11 mutations in NFNS have been reported. Knowledge about possible involvement of additional RASopathy-associated genes in NFNS is, however, very limited. We present a comprehensive clinical and molecular analysis of eight affected individuals from three unrelated families displaying features of NF1 and NFNS. The genetic etiology of the clinical phenotypes was investigated by mutation analysis, including NF1, PTPN11, SOS1, KRAS, NRAS, BRAF, RAF1, SHOC2, SPRED1, MAP2K1, MAP2K2, and CBL. All three families harbored a heterozygous NF1 variant, where the first family had a missense variant, c.5425C>T;p.R1809C, the second family a recurrent 4bp-deletion, c.6789_6792delTTAC;p.Y2264Tfs*6, and the third family a splice-site variant, c.2991-1G>A, resulting in skipping of exon 18 and an in-frame deletion of 41 amino acids. These NF1 variants have all previously been reported in NF1 patients. Surprisingly, both c.6789_6792delTTAC and c.2991-1G>A are frequently associated with NF1, but association to NFNS has, to our knowledge, not previously been reported. Our results support the notion that NFNS represents a variant of NF1, genetically distinct from NS, and is caused by mutations in NF1, some of which also cause classical NF1. Due to phenotypic overlap between NFNS and NS, we propose screening for NF1 mutations in NS patients, preferentially when café-au-lait spots are present. © 2013 Wiley Periodicals, Inc.

  2. Necrotising fasciitis causing compartment syndrome of the forearm and septic shock due to Vibrio vulnificus: a case report.

    Science.gov (United States)

    Leechavengvongs, Somsak; Jidpugdeebodin, Suwanee; Milindankura, Samaniya

    2006-01-01

    Compartment syndrome caused by necrotising fasciitis has rarely been described. We report a case of systemic Vibrio vulnificus necrotising fasciitis presented with compartmental syndrome of the forearm and septic shock. The patient was treated with systemic antibiotic treatment and urgent surgical decompression followed by multiple necrotic tissue debridements. The patient recovered with some limited motion of the hand function. Prompt recognition and immediate treatment with antibiotics and surgical intervention are essential.

  3. SNORD116 deletions cause Prader-Willi syndrome with a mild phenotype and macrocephaly.

    Science.gov (United States)

    Fontana, P; Grasso, M; Acquaviva, F; Gennaro, E; Galli, M L; Falco, M; Scarano, F; Scarano, G; Lonardo, F

    2017-10-01

    Prader-Willi syndrome is a complex condition caused by lack of expression of imprinted genes in the paternally derived region of chromosome 15 (15q11q13). A small number of patients with Prader-Willi phenotype have been discovered to have narrow deletions, not encompassing the whole critical region, but only the SNORD116 cluster, which includes genes codifying for small nucleolar RNAs. This kind of deletion usually is not detected by the classic DNA methylation analysis test. We present the case of a male patient with a mild Prader-Willi phenotype and a small deletion including SNORD116, diagnosed by methylation-sensitive multiplex ligation-dependent probe amplification (MLPA. The patient showed neonatal hypotonia, hyperphagia, obesity, central hypogonadism, hypothyroidism, strabismus. Stature and intellectual development are within the normal range. The presence of macrocephaly, observed in other cases of SNORD116 deletions as well, is uncommon for the classic phenotype of the syndrome. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  4. AP1S1 defect causing MEDNIK syndrome: a new adaptinopathy associated with defective copper metabolism.

    Science.gov (United States)

    Martinelli, Diego; Dionisi-Vici, Carlo

    2014-05-01

    MEDNIK (mental retardation, enteropathy, deafness, neuropathy, ichthyosis, and keratodermia) syndrome has been recently described as a new disorder of copper metabolism. This multisystem disease combines clinical and biochemical signs of both Menkes and Wilson's diseases, in which liver copper overload is treatable using zinc acetate therapy. MEDNIK syndrome is caused by mutation of the AP1S1 gene, which codes for the σ1A subunit of adaptor protein complex 1, and directs intracellular trafficking of copper pumps ATP7A and ATP7B. Adaptor protein complexes regulate clathrin-coated vesicle assembly, protein cargo sorting, and vesicular trafficking between organelles in eukaryotic cells. A growing number of diseases have been associated with mutations in genes coding for adaptor protein complexes subunits and we propose for them the term adaptinopathies, as a new organic category of disorders of intracellular trafficking, which offers the opportunity to dissect the mechanisms involved in the crosstalk between the Golgi apparatus and the other organelles. © 2014 New York Academy of Sciences.

  5. Current status of prenatal diagnosis in Cuba: causes of low prevalence of Down syndrome.

    Science.gov (United States)

    Méndez-Rosado, L A; Hechavarría-Estenoz, D; de la Torre, M E; Pimentel-Benitez, H; Hernández-Gil, J; Perez, B; Barrios-Martínez, A; Morales-Rodriguez, E; Soriano-Torres, M; Garcia, M; Suarez-Mayedo, U; Cedeño-Aparicio, N; Blanco, I; Díaz-Véliz, P; Vidal-Hernández, B; Mitjans-Torres, M; Miñoso, S; Alvarez-Espinosa, D; Reyes-Hernández, E; Angulo-Cebada, E; Torres-Palacios, M; Lozano-Lezcano, L; Lima-Rodriguez, U; Mayeta, M; Noblet, M; Benítez, Y; Lardoeyt-Ferrer, R; Yosela-Martin, S; Carbonell, P; Pérez-Ramos, M; de León, N; Perez, M; Carbonell, J

    2014-11-01

    To analyze trends in cytogenetic prenatal diagnosis in Cuba and to analyze possible causes leading to a low Down syndrome prevalence in a country where the triple test is not available. An analysis of the Cuban program in prenatal cytogenetic diagnosis from 1984 to 2012 was conducted. Results are described, with particular emphasis on indications, abnormal results, types of invasive procedures, and terminations of pregnancy. Cytogenetic prenatal diagnostic analyses (n = 75,095) were conducted; maternal age was the indication for 77.9% of the amniocenteses and chorionic villus samplings. The detection rate of chromosomally abnormal pregnancies was 2.3% for maternal age and increased to 8-9% for other indications. When a chromosomal abnormality was identified, 88.5% terminated the pregnancy. In 2002, the live birth prevalence of Down syndrome was 8.4 per 10,000 live births, and in 2012, 7 per 10,000. Prenatal diagnosis in Cuba has contributed to a significant reduction in chromosomal aberrations. The impact increased because of the demographic trends of the population, the high index of terminations of pregnancy, and the establishment of a network of cytogenetic laboratories throughout Cuba. © 2014 John Wiley & Sons, Ltd.

  6. Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay.

    LENUS (Irish Health Repository)

    Lynch, N E

    2012-02-01

    BACKGROUND: Bannayan-Riley-Ruvalcaba syndrome (BRRS) is an autosomal dominant condition characterised by macrocephaly, developmental delay and subtle cutaneous features. BRRS results from mutations in the PTEN gene. In adults, PTEN mutations cause Cowden syndrome where, in addition to the macrocephaly, there is a higher risk of tumour development. Diagnosis of BRRS is often delayed as presentation can be variable, even within families. AIMS: To identify characteristics of this condition which might facilitate early diagnosis. Prompt diagnosis not only avoids unnecessary investigations in the child but potentially identifies heterozygote parents who are at risk of tumour development. METHODS AND RESULTS: Six children with a PTEN mutation were identified. All had extreme macrocephaly. Four parents and a male sibling were found to have a PTEN mutation on subsequent testing. Affected parents had extreme macrocephaly and a history of thyroid adenoma, or breast or skin lesions. All six children had presented to medical attention before the age of 2.5 years (3\\/6 were investigated as neonates), but the median age at diagnosis was 5 years. Four of the children had multiple investigations prior to identification of a PTEN mutation. CONCLUSION: BRRS should be considered in children with extreme macrocephaly as it is the most consistent clinical feature seen, particularly where there is a family history of macrocephaly.

  7. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome.

    Science.gov (United States)

    Kitao, S; Shimamoto, A; Goto, M; Miller, R W; Smithson, W A; Lindor, N M; Furuichi, Y

    1999-05-01

    Rothmund-Thomson syndrome (RTS; also known as poikiloderma congenitale) is a rare, autosomal recessive genetic disorder characterized by abnormalities in skin and skeleton, juvenile cataracts, premature ageing and a predisposition to neoplasia. Cytogenetic studies indicate that cells from affected patients show genomic instability often associated with chromosomal rearrangements causing an acquired somatic mosaicism. The gene(s) responsible for RTS remains unknown. The genes responsible for Werner and Bloom syndromes (WRN and BLM, respectively) have been identified as homologues of Escherichia coli RecQ, which encodes a DNA helicase that unwinds double-stranded DNA into single-stranded DNAs. Other eukaryotic homologues thus far identified are human RECQL, Saccharomyces cerevisiae SGS1 and Schizosaccharomyces pombe rqh1. We recently cloned two new human helicase genes, RECQL4 at 8q24.3 and RECQL5 at 17q25, which encode members of the RecQ helicase family. Here, we report that three RTS patients carried two types of compound heterozygous mutations in RECQL4. The fact that the mutated alleles were inherited from the parents in one affected family and were not found in ethnically matched controls suggests that mutation of RECQL4 at human chromosome 8q24.3 is responsible for at least some cases of RTS.

  8. Goldenhar syndrome associated with prenatal maternal Fluoxetine ingestion: Cause or coincidence?

    Science.gov (United States)

    Farra, Chantal; Yunis, Khalid; Mikati, Mohammad; Yazbeck, Nadine; Majdalani, Marianne; Awwad, Johnny

    2010-07-01

    Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum, is a complex, heterogeneous condition characterized by abnormal prenatal development of facial structures. We present the occurrence of Goldenhar syndrome in an infant born to a woman with a history of prenatal Fluoxetine ingestion throughout her pregnancy. Because this is the first reported case associating maternal Fluoxetine intake with fetal craniofacial malformations, a potential mechanism of injury is discussed. The propositus, a male born from nonconsanguinous parents, had facial asymmetry with right microtia and mandibular hypoplasia; he also had bilateral hypoplastic macula, scoliotic deformity of the thoracic spine, and ventricular septal defect. The mother was under treatment with Fluoxetine 20 mg/day prior to conception and maintained the same dosage throughout her pregnancy. The drug is a selective serotonin re-uptake inhibitor, the most widely prescribed for the treatment of depression. The occurrence of developmental aberrations may be caused by a profound serotonin receptor suppressive state in utero leading to aberrant clinical manifestations of the first and second branchial arches. Despite the very many limitations of case reporting of teratogenic events, it remains an important source of information on which more advanced research is based. 2010 Wiley-Liss, Inc.

  9. Epidemiology of childhood Guillain-Barré syndrome as a cause of acute flaccid paralysis in Honduras: 1989-1999.

    Science.gov (United States)

    Molinero, Marco R; Varon, Daniel; Holden, Kenton R; Sladky, John T; Molina, Ida B; Cleaves, Francisco

    2003-11-01

    The objective of this study was to investigate the incidence of acute flaccid paralysis in the pediatric population of Honduras over an 11-year period, determine what percentage of acute flaccid paralysis was Guillain-Barré syndrome, and identify the epidemiologic features of Guillain-Barré syndrome. There were 546 childhood cases of acute flaccid paralysis seen between January 1989 and December 1999 at the Hospital Escuela Materno-Infantil in Tegucigalpa, Honduras. Of these cases with acute flaccid paralysis, 394 (72.2%) were diagnosed with Guillain-Barré syndrome. Our incidence of Guillain-Barré syndrome in the Honduran pediatric population (1.37/100,000 per year) is higher than that shown in other studies. There was a significantly higher incidence of Guillain-Barré syndrome in younger children (ages 1-4 years), a significant preponderance of cases from rural areas, and a mild predominance in boys but a typical clinical presentation. The Honduran pediatric Guillain-Barré syndrome population had an increased mortality rate. Guillain-Barré syndrome has become the leading cause of childhood paralysis in Honduras. A better understanding of the population at highest risk and opportunities for earlier intervention with more effective therapeutic modalities may permit reducing the mortality among Honduran children who develop Guillain-Barré syndrome.

  10. Pediatric Hereditary Angioedema as a Cause of Acute Compartment Syndrome of the Hand and Forearm: A Case Report.

    Science.gov (United States)

    Venditto, Chelsea; Jager, Zachary; LoGiudice, John; Matloub, Hani

    2017-05-01

    Compartment syndrome of the upper extremity is a surgical emergency that, when left untreated, can have dire consequences. Its causes are numerous, one of which is the uncommon entity hereditary angioedema, an autosomal dominant disease resulting in edema in a variety of potential locations, including the extremities. This is only the second time hereditary angioedema has been mentioned in the literature as a cause of compartment syndrome. We present a case of hereditary angioedema leading to hand and forearm compartment syndrome in a 13-year-old pediatric patient. Diagnosis of hereditary angioedema was made by our Rheumatology colleagues with physical exam and a thorough history, and confirmed by laboratory studies. Our patient presented with compartment syndrome of the hand and forearm and underwent hand and volar forearm fasciotomies. She was subsequently worked up for hereditary angioedema with laboratory results confirming the diagnosis. She was discharged after a 5-day hospitalization with prophylactic C1-inhibitor therapy. Hereditary angioedema is a rare but known cause of compartment syndrome of the upper extremity, and must be considered when patients present with compartment syndrome of unknown etiology. This disease can be diagnosed by laboratory studies and symptoms can be controlled with medical therapy.

  11. Cobalamin C defect-hemolytic uremic syndrome caused by new mutation in MMACHC.

    Science.gov (United States)

    Adrovic, Amra; Canpolat, Nur; Caliskan, Salim; Sever, Lale; Kıykım, Ertugrul; Agbas, Ayse; Baumgartner, Matthias R

    2016-08-01

    Atypical hemolytic uremic syndrome (aHUS) is mostly linked to defects in the regulation of alternative complement pathway, but a rare form is caused by an inherited defect of cobalamin 1 metabolism. Cobalamin C (cblC) deficiency is an autosomal recessive disorder of vitamin B12 metabolism that results from mutations in methylmalonic aciduria and homocysteinuria (MMACHC). The most severe form of cblC deficiency and the associated high mortality rate are mostly observed in neonates or in infants severe multiorgan involvement at the age of 5 months and who was successfully treated with vitamin B12, betaine, coenzyme Q10 and l-carnitene, and who had a new homozygous mutation of MMACHC. © 2016 Japan Pediatric Society.

  12. A PLK4 mutation causing azoospermia in a man with Sertoli cell-only syndrome.

    Science.gov (United States)

    Miyamoto, T; Bando, Y; Koh, E; Tsujimura, A; Miyagawa, Y; Iijima, M; Namiki, M; Shiina, M; Ogata, K; Matsumoto, N; Sengoku, K

    2016-01-01

    About 15% of couples wishing to have children are infertile; approximately half these cases involve a male factor. Polo-like kinase 4 (PLK-4) is a member of the polo protein family and a key regulator of centriole duplication. Male mice with a point mutation in the Plk4 gene show azoospermia associated with germ cell loss. Mutational analysis of 81 patients with azoospermia and Sertoli cell-only syndrome (SCOS) identified one man with a heterozygous 13-bp deletion in the Ser/Thr kinase domain of PLK4. Division of centrioles occurred in wild-type PLK4-transfected cells, but was hampered in PLK-4-mutant transfectants, which also showed abnormal nuclei. Thus, this PLK4 mutation might be a cause of human SCOS and nonobstructive azoospermia. © 2015 American Society of Andrology and European Academy of Andrology.

  13. Carpal Tunnel Syndrome with Wrist Trigger Caused by Hypertrophied Lumbrical Muscle and Tenosynovitis

    Directory of Open Access Journals (Sweden)

    Ayuko Shimizu

    2015-01-01

    Full Text Available We present a case of carpal tunnel syndrome involving wrist trigger caused by a hypertrophied lumbrical muscle with flexor synovitis. The case was a 40-year-old male heavy manual worker complaining of numbness and pain in the median nerve area. On active flexion of the fingers, snapping was observed at the carpal area, and forceful full grip was impossible. Tinel’s sign was positive and an electromyographic study revealed conduction disturbance of the median nerve at the carpal tunnel. Magnetic resonance imaging revealed edematous lumbrical muscle with synovial proliferation around the flexor tendons. Open carpal tunnel release was performed under local anesthesia. Synovial proliferation of the flexor tendons was found and when flexing the index and middle fingers, the lumbrical muscle was drawn into the carpal tunnel with a triggering phenomenon. After releasing the carpal tunnel, the triggering phenomenon and painful numbness improved.

  14. Herlyn–Werner–Wunderlich syndrome: a rare cause of pelvic pain in adolescent girls

    Science.gov (United States)

    Aveiro, Ana Cristina; Miranda, Victor; Cabral, António Jorge; Nunes, Sidónia; Paulo, Filomeno; Freitas, Conceição

    2011-01-01

    The Herlyn–Werner–Wunderlich syndrome is a rare congenital anomaly characterised by uterus didelphys with blind hemivagina and ipsilateral renal agenesis. It usually presents after menarche with progressive pelvic pain during menses secondary to haematocolpos. Awareness is necessary in order to diagnose and treat this disorder properly before complications occur. MRI is the preferred modality for the delineation of uterine malformation. When renal anomalies are encountered, a screening should also be made for congenital abnormalities of the reproductive tract and vice versa. The authors report a case of a girl with this condition who had a prenatal diagnose of right renal agenesis and presented at 13 years old with pelvic pain caused by haematocolpos. PMID:22689557

  15. Herlyn-Werner-Wunderlich syndrome: a rare cause of pelvic pain in adolescent girls.

    Science.gov (United States)

    Aveiro, Ana Cristina; Miranda, Victor; Cabral, António Jorge; Nunes, Sidónia; Paulo, Filomeno; Freitas, Conceição

    2011-07-15

    The Herlyn-Werner-Wunderlich syndrome is a rare congenital anomaly characterised by uterus didelphys with blind hemivagina and ipsilateral renal agenesis. It usually presents after menarche with progressive pelvic pain during menses secondary to haematocolpos. Awareness is necessary in order to diagnose and treat this disorder properly before complications occur. MRI is the preferred modality for the delineation of uterine malformation. When renal anomalies are encountered, a screening should also be made for congenital abnormalities of the reproductive tract and vice versa. The authors report a case of a girl with this condition who had a prenatal diagnose of right renal agenesis and presented at 13 years old with pelvic pain caused by haematocolpos.

  16. Identification and expression analysis of a novel intragenic EFNB1 mutation causing craniofrontonasal syndrome.

    Science.gov (United States)

    Chacon-Camacho, Oscar F; Arce-Gonzalez, Rocio; Villegas-Ruiz, Vanessa; Pelcastre-Luna, Erika; Uría-Gómez, Conrado E; Granillo-Alvarez, Mariella; Zenteno, Juan C

    2014-12-01

    Craniofrontonasal syndrome (CFNS) is an X-linked disorder caused by mutations in the EFNB1 gene and characterized by distinctive craniofacial and digital malformations. In contrast with most X-linked traits, female patients with CFNS display a more severe phenotype than males. In this report, the clinical, molecular and RNA expression analyses of a female subject with CFNS are described. A novel c.445_449delGAGGG deletion in exon 3 of EFNB1 was demonstrated in this patient. To assess the effect of this novel mutation at the transcript level, the expression of EFNB1 mRNA was studied by quantitative RT-PCR. To our knowledge, this is the first time that an EFNB1 transcript carrying a truncating mutation in exon 3 is demonstrated to undergo degradation by nonsense-mediated mRNA decay. Our results expand the mutational spectrum of CFNS and add to the functional consequences of truncating EFNB1 mutations.

  17. The McKittrick–Wheelock syndrome: a rare cause of curable diabetes

    Directory of Open Access Journals (Sweden)

    Benjamin G Challis

    2016-05-01

    Full Text Available McKittrick–Wheelock syndrome (MWS is a rare consequence of severe dehydration and electrolyte depletion due to mucinous diarrhoea secondary to a rectosigmoid villous adenoma. Reported cases of MWS commonly describe hypersecretion of mucinous diarrhoea in association with dehydration, hypokalaemia, hyponatraemia, hypochloraemia and pre-renal azotemia. Hyperglycaemia and diabetes are rarely reported manifestations of MWS. Herein we describe the case of a 59-year-old woman who presented with new-onset diabetes and severe electrolyte derangement due to a giant rectal villous adenoma. Subsequent endoscopic resection of the tumour cured her diabetes and normalised electrolytes. This case describes a rare cause of ‘curable diabetes’ and indicates hyperaldosteronism and/or whole-body potassium stores as important regulators of insulin secretion and glucose homeostasis.

  18. Sudden infant death syndrome caused by cardiac arrhythmias: only a matter of genes encoding ion channels?

    Science.gov (United States)

    Sarquella-Brugada, Georgia; Campuzano, Oscar; Cesar, Sergi; Iglesias, Anna; Fernandez, Anna; Brugada, Josep; Brugada, Ramon

    2016-03-01

    Sudden infant death syndrome is the unexpected demise of a child younger than 1 year of age which remains unexplained after a complete autopsy investigation. Usually, it occurs during sleep, in males, and during the first 12 weeks of life. The pathophysiological mechanism underlying the death is unknown, and the lethal episode is considered multifactorial. However, in cases without a conclusive post-mortem diagnosis, suspicious of cardiac arrhythmias may also be considered as a cause of death, especially in families suffering from any cardiac disease associated with sudden cardiac death. Here, we review current understanding of sudden infant death, focusing on genetic causes leading to lethal cardiac arrhythmias, considering both genes encoding ion channels as well as structural proteins due to recent association of channelopathies and desmosomal genes. We support a comprehensive analysis of all genes associated with sudden cardiac death in families suffering of infant death. It allows the identification of the most plausible cause of death but also of family members at risk, providing cardiologists with essential data to adopt therapeutic preventive measures in families affected with this lethal entity.

  19. Structural and functional analyses of disease-causing missense mutations in Bloom syndrome protein.

    Science.gov (United States)

    Guo, Rong-Bing; Rigolet, Pascal; Ren, Hua; Zhang, Bo; Zhang, Xing-Dong; Dou, Shuo-Xing; Wang, Peng-Ye; Amor-Gueret, Mounira; Xi, Xu Guang

    2007-01-01

    Bloom syndrome (BS) is an autosomal recessive disorder characterized by genomic instability and the early development of many types of cancer. Missense mutations have been identified in the BLM gene (encoding a RecQ helicase) in affected individuals, but the molecular mechanism and the structural basis of the effects of these mutations remain to be elucidated. We analysed five disease-causing missense mutations that are localized in the BLM helicase core region: Q672R, I841T, C878R, G891E and C901Y. The disease-causing mutants had low ATPase and helicase activities but their ATP binding abilities were normal, except for Q672, whose ATP binding activity was lower than that of the intact BLM helicase. Mutants C878R, mapping near motif IV, and G891E and C901Y, mapping in motif IV, displayed severe DNA-binding defects. We used molecular modelling to analyse these mutations. Our work provides insights into the molecular basis of BLM pathology, and reveals structural elements implicated in coupling DNA binding to ATP hydrolysis and DNA unwinding. Our findings will help to explain the mechanism underlying BLM catalysis and interpreting new BLM causing mutations identified in the future.

  20. Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome.

    Science.gov (United States)

    Nicolaou, Nayia; Margadant, Coert; Kevelam, Sietske H; Lilien, Marc R; Oosterveld, Michiel J S; Kreft, Maaike; van Eerde, Albertien M; Pfundt, Rolph; Terhal, Paulien A; van der Zwaag, Bert; Nikkels, Peter G J; Sachs, Norman; Goldschmeding, Roel; Knoers, Nine V A M; Renkema, Kirsten Y; Sonnenberg, Arnoud

    2012-12-01

    Integrins are transmembrane αβ glycoproteins that connect the extracellular matrix to the cytoskeleton. The laminin-binding integrin α3β1 is expressed at high levels in lung epithelium and in kidney podocytes. In podocytes, α3β1 associates with the tetraspanin CD151 to maintain a functional filtration barrier. Here, we report on a patient homozygous for a novel missense mutation in the human ITGA3 gene, causing fatal interstitial lung disease and congenital nephrotic syndrome. The mutation caused an alanine-to-serine substitution in the integrin α3 subunit, thereby introducing an N-glycosylation motif at amino acid position 349. We expressed this mutant form of ITGA3 in murine podocytes and found that hyperglycosylation of the α3 precursor prevented its heterodimerization with β1, whereas CD151 association with the α3 subunit occurred normally. Consequently, the β1 precursor accumulated in the ER, and the mutant α3 precursor was degraded by the ubiquitin-proteasome system. Thus, these findings uncover a gain-of-glycosylation mutation in ITGA3 that prevents the biosynthesis of functional α3β1, causing a fatal multiorgan disorder.

  1. Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome.

    Science.gov (United States)

    Oeffner, Frank; Martinez, Francisco; Schaffer, Julie; Salhi, Aïcha; Monfort, Sandra; Oltra, Silvestre; Neidel, Ulrike; Bornholdt, Dorothea; van Bon, Bregje; König, Arne; Happle, Rudolf; Grzeschik, Karl-Heinz

    2011-05-01

    Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome is an X-linked genodermatosis with congenital atrichia being the most prominent feature. Recently, we have shown that functional deficiency of MBTPS2 (membrane-bound transcription factor protease site 2) - a zinc metalloprotease essential for cholesterol homeostasis and endoplasmic reticulum stress response - causes the disease. Here, we present results obtained by analysing two intronic MBTPS2 mutations, c.671-9T>G and c.225-6T>A, using in silico and cell-based splicing assays. Accordingly, the c.225-6T>A transversion generated a new splice acceptor site, which caused extension of exon 3 by four bases and subsequently introduced a premature stop codon. Both, minigene experiments and RT-PCR analysis with patient-derived mRNA, demonstrated that the c.671-9T>G mutation resulted in skipping of exon 6, most likely because of disruption of the polypyrimidin tract or a putative intronic splicing enhancer (ISE). Our combined biocomputational and experimental analysis strongly suggested that both intronic alterations are disease-causing mutations. © 2011 John Wiley & Sons A/S.

  2. A Novel Mutation inERCC8Gene Causing Cockayne Syndrome.

    Science.gov (United States)

    Taghdiri, Maryam; Dastsooz, Hassan; Fardaei, Majid; Mohammadi, Sanaz; Farazi Fard, Mohammad Ali; Faghihi, Mohammad Ali

    2017-01-01

    Cockayne syndrome (CS) is a rare autosomal recessive multisystem disorder characterized by impaired neurological and sensory functions, cachectic dwarfism, microcephaly, and photosensitivity. This syndrome shows a variable age of onset and rate of progression, and its phenotypic spectrum include a wide range of severity. Due to the progressive nature of this disorder, diagnosis can be more important when additional signs and symptoms appear gradually and become steadily worse over time. Therefore, mutation analysis of genes involved in CS pathogenesis can be helpful to confirm the suspected clinical diagnosis. Here, we report a novel mutation in ERCC8 gene in a 16-year-old boy who suffers from poor weight gain, short stature, microcephaly, intellectual disability, and photosensitivity. The patient was born to consanguineous family with no previous documented disease in his parents. To identify disease-causing mutation in the patient, whole exome sequencing utilizing next-generation sequencing on an Illumina HiSeq 2000 platform was performed. Results revealed a novel homozygote mutation in ERCC8 gene (NM_000082: exon 11, c.1122G>C) in our patient. Another gene ( ERCC6 ), which is also involved in CS did not have any disease-causing mutations in the proband. The new identified mutation was then confirmed by Sanger sequencing in the proband, his parents, and extended family members, confirming co-segregation with the disease. In addition, different bioinformatics programs which included MutationTaster, I-Mutant v2.0, NNSplice, Combined Annotation Dependent Depletion, The PhastCons, Genomic Evolutationary Rate Profiling conservation score, and T-Coffee Multiple Sequence Alignment predicted the pathogenicity of the mutation. Our study identified a rare novel mutation in ERCC8 gene and help to provide accurate genetic counseling and prenatal diagnosis to minimize new affected individuals in this family.

  3. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.

    Science.gov (United States)

    Jansen, Sandra; Hoischen, Alexander; Coe, Bradley P; Carvill, Gemma L; Van Esch, Hilde; Bosch, Daniëlle G M; Andersen, Ulla A; Baker, Carl; Bauters, Marijke; Bernier, Raphael A; van Bon, Bregje W; Claahsen-van der Grinten, Hedi L; Gecz, Jozef; Gilissen, Christian; Grillo, Lucia; Hackett, Anna; Kleefstra, Tjitske; Koolen, David; Kvarnung, Malin; Larsen, Martin J; Marcelis, Carlo; McKenzie, Fiona; Monin, Marie-Lorraine; Nava, Caroline; Schuurs-Hoeijmakers, Janneke H; Pfundt, Rolph; Steehouwer, Marloes; Stevens, Servi J C; Stumpel, Connie T; Vansenne, Fleur; Vinci, Mirella; van de Vorst, Maartje; Vries, Petra de; Witherspoon, Kali; Veltman, Joris A; Brunner, Han G; Mefford, Heather C; Romano, Corrado; Vissers, Lisenka E L M; Eichler, Evan E; de Vries, Bert B A

    2017-12-05

    Genotype-first combined with reverse phenotyping has shown to be a powerful tool in human genetics, especially in the era of next generation sequencing. This combines the identification of individuals with mutations in the same gene and linking these to consistent (endo)phenotypes to establish disease causality. We have performed a MIP (molecular inversion probe)-based targeted re-sequencing study in 3,275 individuals with intellectual disability (ID) to facilitate a genotype-first approach for 24 genes previously implicated in ID.Combining our data with data from a publicly available database, we confirmed 11 of these 24 genes to be relevant for ID. Amongst these, PHIP was shown to have an enrichment of disruptive mutations in the individuals with ID (5 out of 3,275). Through international collaboration, we identified a total of 23 individuals with PHIP mutations and elucidated the associated phenotype. Remarkably, all 23 individuals had developmental delay/ID and the majority were overweight or obese. Other features comprised behavioral problems (hyperactivity, aggression, features of autism and/or mood disorder) and dysmorphisms (full eyebrows and/or synophrys, upturned nose, large ears and tapering fingers). Interestingly, PHIP encodes two protein-isoforms, PHIP/DCAF14 and NDRP, each involved in neurodevelopmental processes, including E3 ubiquitination and neuronal differentiation. Detailed genotype-phenotype analysis points towards haploinsufficiency of PHIP/DCAF14, and not NDRP, as the underlying cause of the phenotype.Thus, we demonstrated the use of large scale re-sequencing by MIPs, followed by reverse phenotyping, as a constructive approach to verify candidate disease genes and identify novel syndromes, highlighted by PHIP haploinsufficiency causing an ID-overweight syndrome.

  4. De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

    Science.gov (United States)

    Burrage, Lindsay C; Charng, Wu-Lin; Eldomery, Mohammad K; Willer, Jason R; Davis, Erica E; Lugtenberg, Dorien; Zhu, Wenmiao; Leduc, Magalie S; Akdemir, Zeynep C; Azamian, Mahshid; Zapata, Gladys; Hernandez, Patricia P; Schoots, Jeroen; de Munnik, Sonja A; Roepman, Ronald; Pearring, Jillian N; Jhangiani, Shalini; Katsanis, Nicholas; Vissers, Lisenka E L M; Brunner, Han G; Beaudet, Arthur L; Rosenfeld, Jill A; Muzny, Donna M; Gibbs, Richard A; Eng, Christine M; Xia, Fan; Lalani, Seema R; Lupski, James R; Bongers, Ernie M H F; Yang, Yaping

    2015-12-03

    Meier-Gorlin syndrome (MGS) is a genetically heterogeneous primordial dwarfism syndrome known to be caused by biallelic loss-of-function mutations in one of five genes encoding pre-replication complex proteins: ORC1, ORC4, ORC6, CDT1, and CDC6. Mutations in these genes cause disruption of the origin of DNA replication initiation. To date, only an autosomal-recessive inheritance pattern has been described in individuals with this disorder, with a molecular etiology established in about three-fourths of cases. Here, we report three subjects with MGS and de novo heterozygous mutations in the 5' end of GMNN, encoding the DNA replication inhibitor geminin. We identified two truncating mutations in exon 2 (the 1(st) coding exon), c.16A>T (p.Lys6(∗)) and c.35_38delTCAA (p.Ile12Lysfs(∗)4), and one missense mutation, c.50A>G (p.Lys17Arg), affecting the second-to-last nucleotide of exon 2 and possibly RNA splicing. Geminin is present during the S, G2, and M phases of the cell cycle and is degraded during the metaphase-anaphase transition by the anaphase-promoting complex (APC), which recognizes the destruction box sequence near the 5' end of the geminin protein. All three GMNN mutations identified alter sites 5' to residue Met28 of the protein, which is located within the destruction box. We present data supporting a gain-of-function mechanism, in which the GMNN mutations result in proteins lacking the destruction box and hence increased protein stability and prolonged inhibition of replication leading to autosomal-dominant MGS. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  5. The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome.

    Science.gov (United States)

    Brown, Kyla; Selfridge, Jim; Lagger, Sabine; Connelly, John; De Sousa, Dina; Kerr, Alastair; Webb, Shaun; Guy, Jacky; Merusi, Cara; Koerner, Martha V; Bird, Adrian

    2016-02-01

    Rett syndrome is caused by mutations in the X-linked MECP2 gene, which encodes a chromosomal protein that binds to methylated DNA. Mouse models mirror the human disorder and therefore allow investigation of phenotypes at a molecular level. We describe an Mecp2 allelic series representing the three most common missense Rett syndrome (RTT) mutations, including first reports of Mecp2[R133C] and Mecp2[T158M] knock-in mice, in addition to Mecp2[R306C] mutant mice. Together these three alleles comprise ∼25% of all RTT mutations in humans, but they vary significantly in average severity. This spectrum is mimicked in the mouse models; R133C being least severe, T158M most severe and R306C of intermediate severity. Both R133C and T158M mutations cause compound phenotypes at the molecular level, combining compromised DNA binding with reduced stability, the destabilizing effect of T158M being more severe. Our findings contradict the hypothesis that the R133C mutation exclusively abolishes binding to hydroxymethylated DNA, as interactions with DNA containing methyl-CG, methyl-CA and hydroxymethyl-CA are all reduced in vivo. We find that MeCP2[T158M] is significantly less stable than MeCP2[R133C], which may account for the divergent clinical impact of the mutations. Overall, this allelic series recapitulates human RTT severity, reveals compound molecular aetiologies and provides a valuable resource in the search for personalized therapeutic interventions. © The Author 2015. Published by Oxford University Press.

  6. Pilot Study: Colostomy and Urine Collection Protocol for Investigating Potential Inciting Causes of Hen Diuresis Syndrome.

    Science.gov (United States)

    Jones, Kelli; Turner, Bradley; Brandão, João; Hubbard, Sue Ann; Magee, Danny; Baughman, Brittany; Wills, Robert; Tully, Thomas

    2015-06-01

    Hen diuresis syndrome has emerged over the past 5 yr as a significant cause of mortality in the U.S. broiler breeder industry. The condition affects hens in production and is characterized by transient muscle weakness in the vent region, transient diuresis, and often urate deposits on the skin below the vent. Affected hens are often seen straining to lay an egg, which suggests oviduct contraction is also impaired. Related hen mortality, often reaching 1% or more a week, is believed to be primarily the result of male aggression of the vent region (Turner et al., "Investigating Causes of Excessive Urate Production in Broiler Breeder Hens Associated with Peritonitis and Cannibalism Mortality," Oral Presentation at The American Association of Avian Pathologists Annual Meeting, p. 139, 2010). The exact association between the cause of mortality and this syndrome is unknown, but it may be the consequence of transient partial to full oviduct prolapse, which predisposes or stimulates cannibalism and aggression. Based on unpublished work done prior to this study (Turner et al., ibid.), the evidence suggests the underlying problem is metabolic. We feel that urine collection and analysis is an essential component to understanding this condition. This study serves as a pilot study for future investigations that attempt to identify the nature and cause of the metabolic disturbance through paired urine and serum collection and analysis. For the purpose of this study, a small sample of 10 affected and 10 unaffected birds was used for sample collection. In order to collect pure urine, the birds were surgically colostomized. Colostomy did prove to be a useful means of collecting urine free of feces, and for the purposes of our study it yielded adequate urine samples for analysis. There were statistically relevant urine values observed. Affected birds had a higher presence of blood in the urine, a lower uric acid excretion rate (mg/hr), higher concentration (mEq/L) of urine Na+, and

  7. Catatonia in Down syndrome; a treatable cause of regression

    Directory of Open Access Journals (Sweden)

    Ghaziuddin N

    2015-04-01

    Full Text Available Neera Ghaziuddin,1 Armin Nassiri,2 Judith H Miles3 1Department of Psychiatry, University of Michigan, Ann Arbor, Michigan, 2Community Psychiatry, San Jose, California, 3Thompson Center for Autism and Neurodevelopmental Disorders and Department of Child Health, University of Missouri, Columbia, Missouri, USA Objective: The main aim of this case series report is to alert physicians to the occurrence of catatonia in Down syndrome (DS. A second aim is to stimulate the study of regression in DS and of catatonia. A subset of individuals with DS is noted to experience unexplained regression in behavior, mood, activities of daily living, motor activities, and intellectual functioning during adolescence or young adulthood. Depression, early onset Alzheimer’s, or just “the Down syndrome” are often blamed after general medical causes have been ruled out. Clinicians are generally unaware that catatonia, which can cause these symptoms, may occur in DS.Study design: Four DS adolescents who experienced regression are reported. Laboratory tests intended to rule out causes of motor and cognitive regression were within normal limits. Based on the presence of multiple motor disturbances (slowing and/or increased motor activity, grimacing, posturing, the individuals were diagnosed with unspecified catatonia and treated with anti-catatonic treatments (benzodiazepines and electroconvulsive therapy [ECT].Results: All four cases were treated with a benzodiazepine combined with ECT and recovered their baseline functioning.Conclusion: We suspect catatonia is a common cause of unexplained deterioration in adolescents and young adults with DS. Moreover, pediatricians and others who care for individuals with DS are generally unfamiliar with the catatonia diagnosis outside schizophrenia, resulting in misdiagnosis and years of morbidity. Alerting physicians to catatonia in DS is essential to prompt diagnosis, appropriate treatment, and identification of the frequency

  8. Abnormal WNT5A Signaling Causes Mandibular Hypoplasia in Robinow Syndrome.

    Science.gov (United States)

    Hosseini-Farahabadi, S; Gignac, S J; Danescu, A; Fu, K; Richman, J M

    2017-10-01

    The study of rare genetic diseases provides valuable insights into human gene function. Here, we investigate dominant Robinow syndrome (RS), which affects the WNT5A signaling pathway. Autosomal dominant RS is caused by missense mutations in WNT5A or nonsense mutations in the adaptor protein DVL1 or DVL3. The recessive form of the disease is caused by loss-of-function mutations in the receptor ROR2. RS is characterized by hypertelorism, midface, and mandibular hypoplasia. Here, we focus on the missense mutations in WNT5A, since the impact on function is difficult to predict from in silico analysis. We used chicken embryo to express wild-type or 2 mutant versions of human WNT5A in the mandible and then examined the morphologic, cellular, and molecular effects. The 3 experimental viruses-wt WNT5A, WNT5AC83S, or WNT5AC182R-all caused shortening of the mandible on the injected side as compared with GFP controls. Although the phenotypes initially appeared similar, we uncovered specific disruption of chondrocyte polarity and shape, inhibition of cell migration, differences in target gene expression, and absence of JNK signaling only in the presence of mutant viruses. In addition, the missense mutations do not appear to block receptor binding, since in paracrine experiments, the mutant protein inhibits cell migration. In this study, we ruled out a straightforward gain or loss of function caused by the WNT5A missense mutations. Instead, the mutations are likely redirecting WNT signaling away from JNK-PCP toward other noncanonical pathways. We conclude that in RS, WNT5A missense mutations have dominant neomorphic effects that interfere with the function of the wild-type protein.

  9. No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome

    DEFF Research Database (Denmark)

    Boonen, Susanne E; Hahnemann, Johanne M D; Mackay, Deborah

    2012-01-01

    Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome, which, in 50-60% of sporadic cases, is caused by hypomethylation of KCNQ1OT1 differentially methylated region (DMR) at chromosome 11p15.5. The underlying defect of this hypomethylation is largely unknown. Recently, recessive mutations...... of the ZFP57 gene were reported in patients with transient neonatal diabetes mellitus type 1, showing hypomethylation at multiple imprinted loci, including KCNQ1OT1 DMR in some. The aim of our study was to determine whether ZFP57 alterations were a genetic cause of the hypomethylation at KCNQ1OT1 DMR...

  10. Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm

    NARCIS (Netherlands)

    Doyle, Alexander J.; Doyle, Jefferson J.; Bessling, Seneca L.; Maragh, Samantha; Lindsay, Mark E.; Schepers, Dorien; Gillis, Elisabeth; Mortier, Geert; Homfray, Tessa; Sauls, Kimberly; Norris, Russell A.; Huso, Nicholas D.; Leahy, Dan; Mohr, David W.; Caulfield, Mark J.; Scott, Alan F.; Destrée, Anne; Hennekam, Raoul C.; Arn, Pamela H.; Curry, Cynthia J.; van Laer, Lut; McCallion, Andrew S.; Loeys, Bart L.; Dietz, Harry C.

    2012-01-01

    Elevated transforming growth factor (TGF)-beta signaling has been implicated in the pathogenesis of syndromic presentations of aortic aneurysm, including Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS)(1-4). However, the location and character of many of the causal mutations in LDS intuitively

  11. Mutations in the pre-replication complex cause Meier-Gorlin syndrome

    NARCIS (Netherlands)

    Bicknell, L.S.; Bongers, M.H.F.; Leitch, A.; Brown, S.; Schoots, J.; Harley, M.E.; Aftimos, S.; Al-Aama, J.Y.; Bober, M.; Brown, P.A.; Bokhoven, J.H.L.M. van; Dean, J.; Edrees, A.Y.; Feingold, M.; Fryer, A.; Hoefsloot, L.H.; Kau, N.; Knoers, N.V.A.M.; Mackenzie, J.; Opitz, J.M.; Sarda, P.; Ross, A.; Temple, I.K.; Toutain, A.; Wise, C.A.; Wright, M.; Jackson, A.P.

    2011-01-01

    Meier-Gorlin syndrome (ear, patella and short-stature syndrome) is an autosomal recessive primordial dwarfism syndrome characterized by absent or hypoplastic patellae and markedly small ears(1)(3). Both pre- and post-natal growth are impaired in this disorder, and although microcephaly is often

  12. Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi and Filippi syndromes

    NARCIS (Netherlands)

    de Vries, Tamar I.; R Monroe, Glen; van Belzen, Martine J.; van der Lans, Christian A.; Savelberg, Sanne M C; Newman, William G.; van Haaften, Gijs|info:eu-repo/dai/nl/304075515; Nievelstein, Rutger A.|info:eu-repo/dai/nl/166280607; van Haelst, Mieke M.|info:eu-repo/dai/nl/33889392X

    2016-01-01

    Rubinstein–Taybi syndrome (RTS, OMIM 180849) and Filippi syndrome (FLPIS, OMIM 272440) are both rare syndromes, with multiple congenital anomalies and intellectual deficit (MCA/ID). We present a patient with intellectual deficit, short stature, bilateral syndactyly of hands and feet, broad thumbs,

  13. ABCD syndrome is caused by a homozygous mutation in the EDNRB gene

    NARCIS (Netherlands)

    Verheij, JBGM; Kunze, J; Osinga, J; van Essen, AJ; Hofstra, RMW

    2002-01-01

    ABCD syndrome is an autosomal recessive syndrome characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease [HSCR]), and deafness. This phenotype clearly overlaps with the features of the Shah-Waardenburg syndrome, comprising sensorineural

  14. Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7

    DEFF Research Database (Denmark)

    Pastor, Victor B; Sahoo, Sushree; Boklan, Jessica

    2017-01-01

    Familial myelodysplastic syndromes arise from haploinsufficiency of genes involved in hematopoiesis and are primarily associated with early-onset disease. Here we describe a familial syndrome in 7 patients from 4 unrelated pedigrees presenting with myelodisplastic syndrome and loss of chromosome ...

  15. Cushing syndrome

    Science.gov (United States)

    Hypercortisolism; Cortisol excess; Glucocorticoid excess - Cushing syndrome ... The most common cause of Cushing syndrome is taking too much ... called exogenous Cushing syndrome . Prednisone, dexamethasone, ...

  16. A case report of severely damaged hip joint caused by SAPHO syndrome treated with 2-stage total hip arthroplasty.

    Science.gov (United States)

    Yeo, Ingwon; Cha, Hoon-Suk; Yoon, Young Cheol; Park, Youn-Soo; Lim, Seung-Jae

    2016-07-01

    Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is an increasingly recognized entity. The hip joint is known as a less frequently affected site in SAPHO syndrome, and there has been limited reports about hip joint diseases caused by SAPHO syndrome, and as such adequate treatment for this disease spectrum is still not fully elucidated. We describe the case of a 52-year-old man admitted for SAPHO syndrome who went on to be diagnosed with advanced secondary hip arthritis associated with disabling right hip pain. The diagnosis of SAPHO syndrome was delayed; the patient was given a clinical diagnosis of osteomyelitis and treated with prolonged courses of antibiotics and open surgical debridement at previous tertiary health facility. The patient underwent 2-stage joint replacement surgery in our hospital. At 1 year after the surgery, he is well, with minimal right hip pain and the prosthesis is functioning well. This case shows the safety and effectiveness of the 2-stage joint replacement in treating destructive hip disease caused by SAPHO syndrome mimicking infectious arthritis.

  17. [Anterior compartment syndrome of the forearm caused by exercise: unusual cause of recurrent episodes of acute effort rhabdomyolysis].

    Science.gov (United States)

    Drouet, A; Jaquin, O; Guilloton, L; Dumas, P; Volckmann, P; Ribot, C

    2001-04-01

    An effort-related compartmental syndrome is well known in the leg, but may be present infrequently, acutely or chronically in the anterior compartment of the forearm. We report a case of a 32-year-old man who presented four times after climbing exercises a bilateral compartment of the forearm, unusual because of the observation of rhabdomyolysis, but without irreversible damage. Clinical information and follow-up on two acute and 14 chronic cases were reexamined, showing a homogenous presentation. He refused fasciotomy because he stopped athletic activities. Measurement of intramuscular pressure after exertion was useful for diagnosis. A local effort-related pain must call to mind a chronic compartment syndrome of the forearm, which may risk incurring the acute form, with irreversible lesions of muscle and nerve, and possibly renal failure because of rhabdomyolysis.

  18. Duck egg-drop syndrome caused by BYD virus, a new Tembusu-related flavivirus.

    Directory of Open Access Journals (Sweden)

    Jingliang Su

    Full Text Available Since April 2010, a severe outbreak of duck viral infection, with egg drop, feed uptake decline and ovary-oviduct disease, has spread around the major duck-producing regions in China. A new virus, named BYD virus, was isolated in different areas, and a similar disease was reproduced in healthy egg-producing ducks, infecting with the isolated virus. The virus was re-isolated from the affected ducks and replicated well in primary duck embryo fibroblasts and Vero cells, causing the cytopathic effect. The virus was identified as an enveloped positive-stranded RNA virus with a size of approximately 55 nm in diameter. Genomic sequencing of the isolated virus revealed that it is closely related to Tembusu virus (a mosquito-borne Ntaya group flavivirus, with 87-91% nucleotide identity of the partial E (envelope proteins to that of Tembusu virus and 72% of the entire genome coding sequence with Bagaza virus, the most closely related flavivirus with an entirely sequenced genome. Collectively our systematic studies fulfill Koch's postulates, and therefore, the causative agent of the duck egg drop syndrome occurring in China is a new flavivirus. Flavivirus is an emerging and re-emerging zoonotic pathogen and BYD virus that causes severe egg-drop, could be disastrous for the duck industry. More importantly its public health concerns should also be evaluated, and its epidemiology should be closely watched due to the zoonotic nature of flaviviruses.

  19. A new mutation site in the AIRE gene causes autoimmune polyendocrine syndrome type 1.

    Science.gov (United States)

    Zhu, Wufei; Hu, Zhen; Liao, Xiangyu; Chen, Xing; Huang, Wenrong; Zhong, Yu; Zeng, Zhaoyang

    2017-10-01

    Autoimmune polyendocrine syndrome type 1 (APS-1, OMIM 2403000) is a rare autosomal recessive disease that is caused by autoimmune regulator (AIRE). The main symptoms of APS-1 are chronic mucocutaneous candidiasis, autoimmune adrenocortical insufficiency (Addison's disease) and hypoparathyroidism. We collected APS-1 cases and analysed them. The AIRE genes of the patient and his family members were sequenced to identify whether the APS-1 patient had an AIRE mutation. We discovered a mutation site (c.206A>C) that had never before been reported in the AIRE gene located in exon 2 of the AIRE gene. This homogyzous mutation caused a substitution of the 69th amino acid of the AIRE protein from glutamine to proline (p.Q69P). A yeast two-hybrid assay, which was used to analyse the homodimerization properties of the mutant AIRE protein, showed that the mutant AIRE protein could not interact with the normal AIRE protein. Flow cytometry and RT-qPCR analyses indicated that the new mutation site could decrease the expression levels of the AIRE, glutamic acid decarboxylase 65 (GAD65) and tryptophan hydroxylase-1 (TPH1) proteins to affect central immune tolerance. In conclusion, our research has shown that the new mutation site (c.206A>C) may influence the homodimerization and expression levels and other aspects of the AIRE protein. It may also impact the expression levels of tissue-restricted antigens (TRAs), leading to a series of autoimmune diseases.

  20. Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia.

    Science.gov (United States)

    Chen, Wuyan; Perritt, Ashley F; Morissette, Rachel; Dreiling, Jennifer L; Bohn, Markus-Frederik; Mallappa, Ashwini; Xu, Zhi; Quezado, Martha; Merke, Deborah P

    2016-09-01

    Some variants that cause autosomal-recessive congenital adrenal hyperplasia (CAH) also cause hypermobility type Ehlers-Danlos syndrome (EDS) due to the monoallelic presence of a chimera disrupting two flanking genes: CYP21A2, encoding 21-hydroxylase, necessary for cortisol and aldosterone biosynthesis, and TNXB, encoding tenascin-X, an extracellular matrix protein. Two types of CAH tenascin-X (CAH-X) chimeras have been described with a total deletion of CYP21A2 and characteristic TNXB variants. CAH-X CH-1 has a TNXB exon 35 120-bp deletion resulting in haploinsufficiency, and CAH-X CH-2 has a TNXB exon 40 c.12174C>G (p.Cys4058Trp) variant resulting in a dominant-negative effect. We present here three patients with biallelic CAH-X and identify a novel dominant-negative chimera termed CAH-X CH-3. Compared with monoallelic CAH-X, biallelic CAH-X results in a more severe phenotype with skin features characteristic of classical EDS. We present evidence for disrupted tenascin-X function and computational data linking the type of TNXB variant to disease severity. © 2016 WILEY PERIODICALS, INC.

  1. Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation

    Science.gov (United States)

    Magerus-Chatinet, Aude; Stolzenberg, Marie-Claude; Lanzarotti, Nina; Neven, Bénédicte; Daussy, Cécile; Picard, Capucine; Neveux, Nathalie; Desai, Mukesh; Rao, Meghana; Ghosh, Kanjaksha; Madkaikar, Manisha; Fischer, Alain; Rieux-Laucat, Frédéric

    2013-01-01

    Background Autoimmune lymphoproliferative syndrome (ALPS) is characterized by chronic nonmalignant lymphoproliferation, accumulation of double-negative T cells, hypergammaglobulinemia G and A, and autoimmune cytopenia. Objectives Although mostly associated with FAS mutations, different genetic defects leading to impaired apoptosis have been described in patients with ALPS, including the FAS ligand gene (FASLG) in rare cases. Here we report on the first case of complete FAS ligand deficiency caused by a homozygous null mutant. Methods Double-negative T-cell counts and plasma IL-10 and FAS ligand concentrations were determined as ALPS markers. The FASLG gene was sequenced, and its expression was analyzed by means of Western blotting. FAS ligand function was assessed based on reactivation-induced cell death. Results We describe a patient born to consanguineous parents who presented with a severe form of ALPS caused by FASLG deficiency. Although the clinical presentation was compatible with a homozygous FAS mutation, FAS-induced apoptosis was normal, and plasma FAS ligand levels were not detectable. This patient carries a homozygous, germline, single-base-pair deletion in FASLG exon 1, leading to a premature stop codon (F87fs x95) and a complete defect in FASLG expression. The healthy parents were each heterozygous for the mutation, confirming its recessive trait. Conclusion FAS ligand deficiency should be screened in patients presenting with ALPS features but lacking the usual markers, including plasma soluble FAS ligand and an in vitro apoptotic defect. An activation-induced cell death test could help in discrimination. PMID:22857792

  2. Mouse Models of Down Syndrome as a Tool to Unravel the Causes of Mental Disabilities

    Science.gov (United States)

    Rueda, Noemí; Flórez, Jesús; Martínez-Cué, Carmen

    2012-01-01

    Down syndrome (DS) is the most common genetic cause of mental disability. Based on the homology of Hsa21 and the murine chromosomes Mmu16, Mmu17 and Mmu10, several mouse models of DS have been developed. The most commonly used model, the Ts65Dn mouse, has been widely used to investigate the neural mechanisms underlying the mental disabilities seen in DS individuals. A wide array of neuromorphological alterations appears to compromise cognitive performance in trisomic mice. Enhanced inhibition due to alterations in GABAA-mediated transmission and disturbances in the glutamatergic, noradrenergic and cholinergic systems, among others, has also been demonstrated. DS cognitive dysfunction caused by neurodevelopmental alterations is worsened in later life stages by neurodegenerative processes. A number of pharmacological therapies have been shown to partially restore morphological anomalies concomitantly with cognition in these mice. In conclusion, the use of mouse models is enormously effective in the study of the neurobiological substrates of mental disabilities in DS and in the testing of therapies that rescue these alterations. These studies provide the basis for developing clinical trials in DS individuals and sustain the hope that some of these drugs will be useful in rescuing mental disabilities in DS individuals. PMID:22685678

  3. Recessive inheritance of population-specific intronic LINE-1 insertion causes a rotor syndrome phenotype.

    Science.gov (United States)

    Kagawa, Tatehiro; Oka, Akira; Kobayashi, Yoshinao; Hiasa, Yoichi; Kitamura, Tsuneo; Sakugawa, Hiroshi; Adachi, Yukihiko; Anzai, Kazuya; Tsuruya, Kota; Arase, Yoshitaka; Hirose, Shunji; Shiraishi, Koichi; Shiina, Takashi; Sato, Tadayuki; Wang, Ting; Tanaka, Masayuki; Hayashi, Hideki; Kawabe, Noboru; Robinson, Peter N; Zemojtel, Tomasz; Mine, Tetsuya

    2015-03-01

    Sequences of long-interspersed elements (LINE-1, L1) make up ∼17% of the human genome. De novo insertions of retrotransposition-active L1s can result in genetic diseases. It has been recently shown that the homozygous inactivation of two adjacent genes SLCO1B1 and SLCO1B3 encoding organic anion transporting polypeptides OATP1B1 and OATP1B3 causes a benign recessive disease presenting with conjugated hyperbilirubinemia, Rotor syndrome. Here, we examined SLCO1B1 and SLCO1B3 genes in six Japanese diagnosed with Rotor syndrome on the basis of laboratory data and laparoscopy. All six Japanese patients were homozygous for the c.1738C>T nonsense mutation in SLCO1B1 and homozygous for the insertion of a ∼6.1-kbp L1 retrotransposon in intron 5 of SLCO1B3, which altogether make up a Japanese-specific haplotype. RNA analysis revealed that the L1 insertion induced deleterious splicing resulting in SLCO1B3 transcripts lacking exon 5 or exons 5-7 and containing premature stop codons. The expression of OATP1B1 and OATP1B3 proteins was not detected in liver tissues. This is the first documented case of a population-specific polymorphic intronic L1 transposon insertion contributing to molecular etiology of recessive genetic disease. Since L1 activity in human genomes is currently seen as a major source of individual genetic variation, further investigations are warranted to determine whether this phenomenon results in other autosomal-recessive diseases. © 2014 WILEY PERIODICALS, INC.

  4. A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3

    Science.gov (United States)

    Chew, Sheena; Balasubramanian, Ravikumar; Chan, Wai-Man; Kang, Peter B.; Andrews, Caroline; Webb, Bryn D.; MacKinnon, Sarah E.; Oystreck, Darren T.; Rankin, Jessica; Crawford, Thomas O.; Geraghty, Michael; Pomeroy, Scott L.; Crowley, William F.; Jabs, Ethylin Wang; Hunter, David G.; Grant, Patricia E.

    2013-01-01

    Missense mutations in TUBB3, the gene that encodes the neuronal-specific protein β-tubulin isotype 3, can cause isolated or syndromic congenital fibrosis of the extraocular muscles, a form of complex congenital strabismus characterized by cranial nerve misguidance. One of the eight TUBB3 mutations reported to cause congenital fibrosis of the extraocular muscles, c.1228G>A results in a TUBB3 E410K amino acid substitution that directly alters a kinesin motor protein binding site. We report the detailed phenotypes of eight unrelated individuals who harbour this de novo mutation, and thus define the ‘TUBB3 E410K syndrome’. Individuals harbouring this mutation were previously reported to have congenital fibrosis of the extraocular muscles, facial weakness, developmental delay and possible peripheral neuropathy. We now confirm by electrophysiology that a progressive sensorimotor polyneuropathy does indeed segregate with the mutation, and expand the TUBB3 E410K phenotype to include Kallmann syndrome (hypogonadotropic hypogonadism and anosmia), stereotyped midface hypoplasia, intellectual disabilities and, in some cases, vocal cord paralysis, tracheomalacia and cyclic vomiting. Neuroimaging reveals a thin corpus callosum and anterior commissure, and hypoplastic to absent olfactory sulci, olfactory bulbs and oculomotor and facial nerves, which support underlying abnormalities in axon guidance and maintenance. Thus, the E410K substitution defines a new genetic aetiology for Moebius syndrome, Kallmann syndrome and cyclic vomiting. Moreover, the c.1228G>A mutation was absent in DNA from ∼600 individuals who had either Kallmann syndrome or isolated or syndromic ocular and/or facial dysmotility disorders, but who did not have the combined features of the TUBB3 E410K syndrome, highlighting the specificity of this phenotype–genotype correlation. The definition of the TUBB3 E410K syndrome will allow clinicians to identify affected individuals and predict the mutation based

  5. Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome.

    Science.gov (United States)

    Wemhöner, Konstantin; Friedrich, Corinna; Stallmeyer, Birgit; Coffey, Alison J; Grace, Andrew; Zumhagen, Sven; Seebohm, Guiscard; Ortiz-Bonnin, Beatriz; Rinné, Susanne; Sachse, Frank B; Schulze-Bahr, Eric; Decher, Niels

    2015-03-01

    Gain-of-function mutations in CACNA1C, encoding the L-type Ca(2+) channel Cav1.2, cause Timothy syndrome (TS), a multi-systemic disorder with dysmorphic features, long-QT syndrome (LQTS) and autism spectrum disorders. TS patients have heterozygous mutations (G402S and G406R) located in the alternatively spliced exon 8, causing a gain-of-function by reduced voltage-dependence of inactivation. Screening 540 unrelated patients with non-syndromic forms of LQTS, we identified six functional relevant CACNA1C mutations in different regions of the channel. All these mutations caused a gain-of-function combining different mechanisms, including changes in current amplitude, rate of inactivation and voltage-dependence of activation or inactivation, similar as in TS. Computer simulations support the theory that the novel CACNA1C mutations prolong action potential duration. We conclude that genotype-negative LQTS patients should be investigated for mutations in CACNA1C, as a gain-of-function in Cav1.2 is likely to cause LQTS and only specific and rare mutations, i.e. in exon 8, cause the multi-systemic TS. Copyright © 2015 Elsevier Ltd. All rights reserved.

  6. Acute Respiratory Distress Syndrome Caused by Influenza B Virus Infection in a Patient with Diffuse Large B-Cell Lymphoma

    Directory of Open Access Journals (Sweden)

    Silvio A. Ñamendys-Silva

    2011-01-01

    Full Text Available Influenza B virus infections are less common than infections caused by influenza A virus in critically ill patients, but similar mortality rates have been observed for both influenza types. Pneumonia caused by influenza B virus is uncommon and has been reported in pediatric patients and previously healthy adults. Critically ill patients with pneumonia caused by influenza virus may develop acute respiratory distress syndrome. We describe the clinical course of a critically ill patient with diffuse large B-cell lymphoma nongerminal center B-cell phenotype who developed acute respiratory distress syndrome caused by influenza B virus infection. This paper emphasizes the need to suspect influenza B virus infection in critically ill immunocompromised patients with progressive deterioration of cardiopulmonary function despite treatment with antibiotics. Early initiation of neuraminidase inhibitor and the implementation of guidelines for management of severe sepsis and septic shock should be considered.

  7. The Cohort Study on Prediction of Incidence of All-Cause Mortality by Metabolic Syndrome.

    Directory of Open Access Journals (Sweden)

    Zhixia Li

    Full Text Available The aim was to evaluate the impact of metabolic syndrome (MS, MS individual components and 32 kinds of MS specific component combinations on all-cause mortality risk in a fixed cohort of MJ check-up population.We observed the events of death in a fixed cohort, where the population was composed of 45,542 individuals aged 35-74 who were examined at MJ Health check-up Center in 1997 as baseline examination, and were followed up to 2005. Median duration of follow-up was 7.44 years. MS was defined according to the National Cholesterol Educational Program (the revised NCEP-ATPIII for Asian in 2004, the prevalence of MS was standardized according to China's fifth census data. We constructed common Cox regression model, simultaneously adjusting the classic risk factors (such as age, sex, smoking, alcohol drinking, physical activity, family history, etc. to examine the relationship between MS, MS individual components and 32 kinds of MS specific component combinations on the occurrence of death with the fixed cohort.The standardized prevalence of MS was 29.75% (male: 30.36%, female: 29.51%. There were 1,749 persons who died during the median 7.44-years follow-up, the mortality rate was 46 per 10,000 person years. The mortality rates were 71 and 35 per 10,000 person years for those with and without MS, respectively. After adjustment for age, sex and classical risk factors, compared with subjects without MS, the hazard ratio of all-cause mortality was 1.26 (95% CI: 1.14-1.40. The all-cause mortality were more highly significant than other combinations (P <0.05 when the following combinations exist: "elevated blood pressure", "elevated fasting plasma glucose + low high-density lipoprotein cholesterol", "elevated blood pressure + elevated triglyceride + elevated fasting plasma glucose", "elevated fasting plasma glucose + low high-density lipoprotein cholesterol + elevated blood pressure + elevated triglyceride". After adjusting age, sex and classical risk

  8. Molecular characterization of a heterothallic mating system in Pseudogymnoascus destructans, the fungus causing white-nose syndrome of bats

    Science.gov (United States)

    Jonathan M. Palmer; Alena Kubatova; Alena. Novakova; Andrew M. Minnis; Miroslav Kolarik; Daniel L. Lindner

    2014-01-01

    White-nose syndrome (WNS) of bats has devastated bat populations in eastern North America since its discovery in 2006. WNS, caused by the fungus Pseudogymnoascus destructans, has spread quickly in North America and has become one of the most severe wildlife epidemics of our time. While P. destructans is spreading rapidly in North...

  9. Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome

    NARCIS (Netherlands)

    M. Gerards (Mike); W. Sluiter (Wim); B. van den Bosch (Bianca); L.E.A. de Wit (Elly); C. Calis (Chantal); M. Frentzen (Margrit); H. Akbari (Hana); K. Schoonderwoerd (Kees); H.R. Scholte (Hans); R.J.E. Jongbloed (Roselie); A. Hendrickx (Alexandra); I.F.M. de Coo (René); H.J.M. Smeets (Hubert)

    2010-01-01

    textabstractBackground: Leigh syndrome is an early onset, progressive, neurodegenerative disorder with developmental and motor skills regression. Characteristic magnetic resonance imaging abnormalities consist of focal bilateral lesions in the basal ganglia and/or the brainstem. The main cause is a

  10. Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.

    NARCIS (Netherlands)

    Ruiz-Perez, V.L.; Tompson, S.W.; Blair, H.J.; Espinoza-Valdez, C.; Lapunzina, P.; Silva, E.O.; Hamel, B.C.J.; Gibbs, J.L.; Young, I.D.; Wright, M.J.; Goodship, J.A.

    2003-01-01

    Ellis-van Creveld syndrome (EvC) is an autosomal recessive skeletal dysplasia. Elsewhere, we described mutations in EVC in patients with this condition (Ruiz-Perez et al. 2000). We now report that mutations in EVC2 also cause EvC. These two genes lie in a head-to-head configuration that is conserved

  11. Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy

    NARCIS (Netherlands)

    Gerber, S.; Ding, M.G.; Gerard, X.; Zwicker, K.; Zanlonghi, X.; Rio, M. del; Serre, V.; Hanein, S.; Munnich, A.; Rotig, A.; Bianchi, L.; Amati-Bonneau, P.; Elpeleg, O.; Kaplan, J.; Brandt, U.; Rozet, J.M.

    2017-01-01

    BACKGROUND: Non-syndromic hereditary optic neuropathy (HON) has been ascribed to mutations in mitochondrial fusion/fission dynamics genes, nuclear and mitochondrial DNA-encoded respiratory enzyme genes or nuclear genes of poorly known mitochondrial function. However, the disease causing gene remains

  12. GABAergic Neuron-Specific Loss of Ube3a Causes Angelman Syndrome-Like EEG Abnormalities and Enhances Seizure Susceptibility

    NARCIS (Netherlands)

    M.C. Judson (Matthew C.); Wallace, M.L. (Michael L.); Sidorov, M.S. (Michael S.); Burette, A.C. (Alain C.); Gu, B. (Bin); G.M. van Woerden (Geeske); King, I.F. (Ian F.); Han, J.E. (Ji Eun); Zylka, M.J. (Mark J.); Y. Elgersma (Ype); Weinberg, R.J. (Richard J.); B.D. Philpot (Benjamin D.)

    2016-01-01

    textabstractLoss of maternal UBE3A causes Angelman syndrome (AS), a neurodevelopmental disorder associated with severe epilepsy. We previously implicated GABAergic deficits onto layer (L) 2/3 pyramidal neurons in the pathogenesis of neocortical hyperexcitability, and perhaps epilepsy, in AS model

  13. Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes

    NARCIS (Netherlands)

    Pitteloud, Nelly; Meysing, Astrid; Quinton, Richard; Acierno, James S.; Dwyer, Andrew A.; Plummer, Lacey; Fliers, Eric; Boepple, Paul; Hayes, Frances; Seminara, Stephanie; Hughes, Viriginia A.; Ma, Jinghong; Bouloux, Pierre; Mohammadi, Moosa; Crowley, William F.

    2006-01-01

    BACKGROUND: Kallmann's syndrome (KS) is a clinically and genetically heterogeneous disorder consisting of idiopathic hypogonadotropic hypogonadism (IHH) and anosmia. Mutations in KAL1 causing the X-linked form of KS have been identified in 10% of all KS patients and consistently result in a severe

  14. De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

    NARCIS (Netherlands)

    G.M. Mirzaa (Ghayda); D.A. Parry (David); N.K. Fry; K.A. Giamanco (Kristin); J.A. Schwartzentruber (Jeremy); M. Vanstone (Megan); C.V. Logan (Clare); N. Roberts (Nicola); C.A. Johnson (Colin); S. Singh (Shawn); S.S. Kholmanskikh (Stanislav); C. Adams (Carissa); R.D. Hodge (Rebecca); R.F. Hevner (Robert); D.T. Bonthron (David); K.P.J. Braun (Kees P.); L. Faivre (Laurence); J.-B. Riviere; C. St-Onge (Christina); K.W. Gripp (Karen); G.M.S. Mancini (Grazia); K. Pang (Ki); E. Sweeney (Elizabeth); H. van Esch (Hilde); N.E. Verbeek (Nienke); D. Wieczorek (Dagmar); M. Steinraths (Michelle); J. Majewski (Jacek); K.M. Boycott (Kym); D.T. Pilz (Daniela); M.E. Ross (M Elizabeth); W.B. Dobyns (William); E. Sheridan (Eamonn); J. Friedman; S. Michaud; F. Bernier (Francois); M. Brudno (M.); B. Fernandez (B.); A. Knoppers (Annelies); J. Samuels (Jonathan); S.W. Scherer (Stephen)

    2014-01-01

    textabstractActivating mutations in genes encoding phosphatidylinositol 3-kinase (PI3K)-AKT pathway components cause megalencephaly-polymicrogyria-polydactyly- hydrocephalus syndrome (MPPH, OMIM 603387). Here we report that individuals with MPPH lacking upstream PI3K-AKT pathway mutations carry de

  15. A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome

    DEFF Research Database (Denmark)

    Westbroek, W.; Tuchman, M.; Tinloy, B.

    2008-01-01

    The autosomal recessive Griscelli syndrome type II (GSII) is caused by mutations in the RAB27A gene. Typical clinical features include immunological impairment, silver-gray scalp hair, eyelashes and eyebrows and hypomelanosis of the skin. Rabs help determine the specificity of membrane trafficking...

  16. 22q13.3 Deletion Syndrome: An Underdiagnosed Cause of Mental Retardation

    Directory of Open Access Journals (Sweden)

    ilknur Erol

    2015-03-01

    Full Text Available Phelan-McDermid syndrome, also known as 22q13.3 deletion syndrome, is characterized by global developmental delay, absent or delayed speech, generalized hypotonia, and minor physical anomalies. The deletion typically involves the terminal band 22q13.3 and has been associated with both familial and de-novo translocations. We report the case of an 11-year-old Turkish girl with 22q13.3 deletion syndrome presenting with repeated seizures during the course of a rubella infection. We also review the clinical features of 22q13.3 deletion syndrome and emphasize the importance of considering a rare microdeletion syndrome for idiopathic mental retardation when results of a routine karyotype analysis are normal. To the best of our knowledge, this is the first reported case of a Turkish patient with isolated 22q13.3 deletion syndrome. [Cukurova Med J 2015; 40(1.000: 169-173

  17. Proteus syndrome: a rare cause of hemihypertrophy and macrodactyly on bone scanning.

    Science.gov (United States)

    Joshi, U; van der Sluijs, J A; Teule, G J J; Pijpers, R

    2005-09-01

    Proteus syndrome is a rare, sporadic genetic disorder characterized by overgrowth of multiple different tissues in a mosaic pattern. It is associated with connective tissue nevi, epidermal nevi, disproportionate overgrowth of multiple tissues, vascular malformations, characteristic tumors, and specific facial anomalies. Joseph Merrick, popularly known as the Elephant Man, is now believed to have suffered from Proteus syndrome. A case of Proteus syndrome and associated findings on bone scintigraphy are presented.

  18. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

    DEFF Research Database (Denmark)

    Hoischen, Alexander; van Bon, Bregje W M; Rodríguez-Santiago, Benjamín

    2011-01-01

    Bohring-Opitz syndrome is characterized by severe intellectual disability, distinctive facial features and multiple congenital malformations. We sequenced the exomes of three individuals with Bohring-Opitz syndrome and in each identified heterozygous de novo nonsense mutations in ASXL1, which...... is required for maintenance of both activation and silencing of Hox genes. In total, 7 out of 13 subjects with a Bohring-Opitz phenotype had de novo ASXL1 mutations, suggesting that the syndrome is genetically heterogeneous....

  19. Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene.

    Science.gov (United States)

    La Piana, Roberta; Vanasse, Michel; Brais, Bernard; Bernard, Genevieve

    2015-09-01

    Allan-Herndon-Dudley syndrome is an X-linked disease caused by mutations in the solute carrier family 16 member 2 (SLC16A2) gene. As SLC16A2 encodes the monocarboxylate transporter 8 (MCT8), a thyroid hormone transporter, patients with Allan-Herndon-Dudley syndrome present a specific altered thyroid hormone profile. Allan-Herndon-Dudley syndrome has been associated with myelination delay on the brain magnetic resonance imaging (MRI) of affected subjects. We report a patient with Allan-Herndon-Dudley syndrome characterized by developmental delay, hypotonia, and delayed myelination caused by a novel SLC16A2 mutation (p.L291R). The thyroid hormones profile in our patient was atypical for Allan-Herndon-Dudley syndrome. The follow-up examinations showed that the progression of the myelination was not accompanied by a clinical improvement. Our paper suggests that SLC16A2 mutations should be investigated in patients with myelination delay even when the thyroid function is not conclusively altered. © The Author(s) 2014.

  20. Hepatic sinusoidal obstruction syndrome caused by herbal medicine: CT and MRI features

    Energy Technology Data Exchange (ETDEWEB)

    Zhou, Hua; Lou, Hai Yan [Dept. of Radiology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou (China); Wang, Yi Xiang J. [Dept. of Radiology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou (China); Xu, Xiao Jun; Zhang, Min Ming [Dept. of Radiology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou (China)

    2014-04-15

    To describe the CT and MRI features of hepatic sinusoidal obstruction syndrome (HSOS) caused by herbal medicine Gynura segetum. The CT and MRI features of 16 consecutive Gynura segetum induced HSOS cases (12 men, 4 women) were analyzed. Eight patients had CT; three patients had MRI, and the remaining five patients had both CT and MRI examinations. Based on their clinical presentations and outcomes, the patients were classified into three categories: mild, moderate, and severe. The severity of the disease was also evaluated radiologically based on the abnormal hepatic patchy enhancement in post-contrast CT or MRI images. Ascites, patchy liver enhancement, and main right hepatic vein narrowing or occlusion were present in all 16 cases. Hepatomegaly and gallbladder wall thickening were present in 14 cases (87.5%, 14/16). Periportal high intensity on T2-weighted images was present in 6 cases (75%, 6/8). Normal liver parenchymal enhancement surrounding the main hepatic vein forming a clover-like sign was observed in 4 cases (25%, 4/16). The extent of patchy liver enhancement was statistically associated with clinical severity classification (kappa = 0.565). Ascites, patchy liver enhancement, and the main hepatic veins narrowing were the most frequent signs of herbal medicine induced HSOS. The grade of abnormal patchy liver enhancement was associated with the clinical severity.

  1. A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia.

    Science.gov (United States)

    Jumlongras, Dolrudee; Lin, Jenn-Yih; Chapra, Anas; Seidman, Christine E; Seidman, Jonathan G; Maas, Richard L; Olsen, Bjorn R

    2004-02-01

    PAX9, a paired domain transcription factor, has important functions in craniofacial and limb development. Heterozygous mutations of PAX9, including deletion, nonsense, or frameshift mutations that lead to a premature stop codon, and missense mutations, were previously shown to be associated with autosomal dominant oligodontia. Here, we report a novel missense mutation that lies in the highly conserved paired domain of PAX9 and that is associated with non-syndromic oligodontia in one family. The mutation, 83G-->C, is predicted to result in the substitution of arginine by proline (R28P) in the N-terminal subdomain of PAX9 paired domain. To rule out the possibility that this substitution is a rare polymorphism and to test whether the predicted amino acid substitution disrupts protein-DNA binding, we analyzed the binding of wild-type and mutant PAX9 paired domain to double-stranded DNA targets. The R28P mutation dramatically reduces DNA binding of the PAX9 paired domain and supports the hypothesis that loss of DNA binding is the pathogenic mechanism by which the mutation causes oligodontia.

  2. A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1.

    Science.gov (United States)

    Zhang, Junyu; Liu, Hongbin; Liu, Zhiyuan; Liao, Yong; Guo, Luo; Wang, Honglian; He, Lin; Zhang, Xiaodong; Xing, Qinghe

    2013-01-01

    Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare autosomal recessive disease defined by the presence of two of the three conditions: mucocutaneous candidiasis, hypoparathyroidism, and Addison's disease. Loss-of-function mutations of the autoimmune regulator (AIRE) gene have been linked to APS-1. Here we report mutational analysis and functional characterization of an AIRE mutation in a consanguineous Chinese family with APS-1. All exons of the AIRE gene and adjacent exon-intron sequences were amplified by PCR and subsequently sequenced. We identified a homozygous missense AIRE mutation c.463G>A (p.Gly155Ser) in two siblings with different clinical features of APS-1. In silico splice-site prediction and minigene analysis were carried out to study the potential pathological consequence. Minigene splicing analysis and subsequent cDNA sequencing revealed that the AIRE mutation potentially compromised the recognition of the splice donor of intron 3, causing alternative pre-mRNA splicing by intron 3 retention. Furthermore, the aberrant AIRE transcript was identified in a heterozygous carrier of the c.463G>A mutation. The aberrant intron 3-retaining transcript generated a truncated protein (p.G155fsX203) containing the first 154 AIRE amino acids and followed by 48 aberrant amino acids. Therefore, our study represents the first functional characterization of the alternatively spliced AIRE mutation that may explain the pathogenetic role in APS-1.

  3. Dumping syndrome: an unusual cause of severe hyperinsulinemic hypoglycemia in neurologically impaired children with gastrostomy.

    Science.gov (United States)

    Bizzarri, C; Cervoni, M; Crea, F; Cutrera, R; Schiavino, A; Schiaffini, R; Cappa, M

    2011-02-01

    This paper describes severe hyperinsulinemic hypoglycemia during bolus enteral feeding in two neurologically impaired children. Both children were affected by dysphagia with swallowing difficulties; caloric intake was inadequate. For these reasons, percutaneous endoscopic gastrostomy had been positioned during the first months of life. In one patient due to persisting vomiting, after a few months, a gastrojejunal tube (PEG-J) was inserted. Hypoglycemia was revealed by routine blood tests, without evidence of specific symptoms. Continuous subcutaneous glucose monitoring showed wide glucose excursions, ranging from hypoglycemia to hyperglycemia. Extremely high levels of insulin were detected at the time of hypoglycemia. A diagnosis of dumping syndrome (DS) was suspected in both children. In the child with PEG, the tip of the gastrostomy catheter was found to be lying in the bulbus duodeni. Once this had been pulled back, hypoglycemic episodes disappeared. The child with PEG-J needed continuous enteral feeding to reach a normal glucose balance. DS is a relatively common complication in children with gastrostomy, but extremely irregular glucose levels, ranging from hypoglycemia to hyperglycemia, and increased insulin secretion had not been previously demonstrated. The incidence of DS is probably underestimated in children receiving enteral feeding for neurological impairment. In these patients intensive monitoring of blood glucose levels should be performed to calibrate meals. Repeated underestimated hypoglycemic episodes could worsen neurological damage and cause a deterioration in clinical conditions.

  4. Mutations in the MESP2 Gene Cause Spondylothoracic Dysostosis/Jarcho-Levin Syndrome

    Science.gov (United States)

    Cornier, Alberto S.; Staehling-Hampton, Karen; Delventhal, Kym M.; Saga, Yumiko; Caubet, Jean-Francois; Sasaki, Nobuo; Ellard, Sian; Young, Elizabeth; Ramirez, Norman; Carlo, Simon E.; Torres, Jose; Emans, John B.; Turnpenny, Peter D.; Pourquié, Olivier

    2008-01-01

    Spondylothoracic dysostosis (STD), also known as Jarcho-Levin syndrome (JLS), is an autosomal-recessive disorder characterized by abnormal vertebral segmentation and defects affecting spine formation, with complete bilateral fusion of the ribs at the costovertebral junction producing a “crab-like” configuration of the thorax. The shortened spine and trunk can severely affect respiratory function during early childhood. The condition is prevalent in the Puerto Rican population, although it is a panethnic disorder. By sequencing a set of candidate genes involved in mouse segmentation, we identified a recessive E103X nonsense mutation in the mesoderm posterior 2 homolog (MESP2) gene in a patient, of Puerto Rican origin and from the Boston area, who had been diagnosed with STD/JLS. We then analyzed 12 Puerto Rican families with STD probands for the MESP2 E103X mutation. Ten patients were homozygous for the E103X mutation, three patients were compound heterozygous for a second nonsense mutation, E230X, or a missense mutation, L125V, which affects a conserved leucine residue within the bHLH region. Thus, all affected probands harbored the E103X mutation. Our findings suggest a founder-effect mutation in the MESP2 gene as a major cause of the classical Puerto Rican form of STD/JLS. PMID:18485326

  5. Chronic food protein-induced enterocolitis syndrome caused by cow's milk proteins passed through breast milk.

    Science.gov (United States)

    Miceli Sopo, Stefano; Monaco, Serena; Greco, Monica; Scala, Guglielmo

    2014-01-01

    We describe 2 cases of food protein-induced enterocolitis syndrome (FPIES) caused by cow's milk (CM) passed through breast milk. The onset in both cases was characterized by chronic symptoms (regurgitation, colic, diarrhea, failure to thrive); in one patient, two acute episodes due to the direct consumption of CM formula by the infant were also reported. The diagnosis of FPIES through breast milk can be easily overlooked, especially in milder cases. We also discuss some important issues concerning the general management of the disease. In conclusion, (1) the diagnosis of chronic FPIES should be taken into account even in exclusively breast-fed infants who present suggestive symptoms such as persistent regurgitation, small amounts of vomiting, lethargy, failure to thrive, dehydration, diarrhea (sometimes bloody) and abdominal distention. A 2-week maternal elimination diet should be considered even in apparently mild cases. (2) CM seems to be the most frequently reported culprit food. (3) In those cases in which acute FPIES is elicited by the direct consumption of the culprit food in breast-fed infants, maternal diet may be unrestricted. © 2014 S. Karger AG, Basel.

  6. Growth without growth hormone in combined pituitary hormone deficiency caused by pituitary stalk interruption syndrome

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    Sang Soo Lee

    2017-03-01

    Full Text Available Growth hormone (GH is an essential element for normal growth. However, reports of normal growth without GH have been made in patients who have undergone brain surgery for craniopharyngioma. Normal growth without GH can be explained by hyperinsulinemia, hyperprolactinemia, elevated leptin levels, and GH variants; however, its exact mechanism has not been elucidated yet. We diagnosed a female patient aged 13 with combined pituitary hormone deficiency (CPHD caused by pituitary stalk interruption syndrome (PSIS. The patient has experienced recurrent hypoglycemic seizures since birth, but reached the height of 160 cm at the age of 13, showing normal growth. She grew another 8 cm for 3 years after the diagnosis, and she reached her final adult height of 168 cm which was greater than the midparental height, at the age of 16. The patient's blood GH and insulin-like growth factor-I levels were consistently subnormal, although her insulin levels were normal. Her physical examination conducted at the age of 15 showed truncal obesity, dyslipidemia, and osteoporosis, which are metabolic features of GH deficiency (GHD. Herein, we report a case in which a PSIS-induced CPHD patient attained her final height above mid parental height despite a severe GHD.

  7. Non-Alcoholic Fatty Liver Disease: Cause or Effect of Metabolic Syndrome.

    Science.gov (United States)

    Grander, Christoph; Grabherr, Felix; Moschen, Alexander R; Tilg, Herbert

    2016-10-01

    Non-alcoholic fatty liver disease (NAFLD) is the most common liver disease throughout the world. Pathophysiological insights into this disease have recently illustrated that various factors such as insulin resistance, innate immunity, metabolic inflammation, and the microbiota are of relevance. NAFLD, metabolic syndrome (MS), and type 2 diabetes (T2D) share many pathophysiological aspects, and inflammatory processes in the adipose tissue, gut, and liver have evolved to be of exceptional importance. Most of NAFLD patients are obese and encounter a high risk of developing MS and T2D. NAFLD, however, is also highly common in subjects with MS and T2D. Furthermore, reflecting its nature of a multisystem disease, NAFLD is associated with a high prevalence and incidence of cardiovascular and chronic kidney disease. These facts require screening strategies for MS/T2D in NAFLD patients and vice versa. Thus, the question of cause or effect cannot be answered as MS and NAFLD share many pathomechanisms, and at the time of either diagnosis both frequently coexist. This is also reflected by a global prevalence rate of 25% for both NAFLD and MS. For this reason, it is crucial that physicians are aware of the 'unholy liaison' between MS, T2D, and NAFLD.

  8. A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1.

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    Junyu Zhang

    Full Text Available Autoimmune polyendocrine syndrome type 1 (APS-1 is a rare autosomal recessive disease defined by the presence of two of the three conditions: mucocutaneous candidiasis, hypoparathyroidism, and Addison's disease. Loss-of-function mutations of the autoimmune regulator (AIRE gene have been linked to APS-1. Here we report mutational analysis and functional characterization of an AIRE mutation in a consanguineous Chinese family with APS-1. All exons of the AIRE gene and adjacent exon-intron sequences were amplified by PCR and subsequently sequenced. We identified a homozygous missense AIRE mutation c.463G>A (p.Gly155Ser in two siblings with different clinical features of APS-1. In silico splice-site prediction and minigene analysis were carried out to study the potential pathological consequence. Minigene splicing analysis and subsequent cDNA sequencing revealed that the AIRE mutation potentially compromised the recognition of the splice donor of intron 3, causing alternative pre-mRNA splicing by intron 3 retention. Furthermore, the aberrant AIRE transcript was identified in a heterozygous carrier of the c.463G>A mutation. The aberrant intron 3-retaining transcript generated a truncated protein (p.G155fsX203 containing the first 154 AIRE amino acids and followed by 48 aberrant amino acids. Therefore, our study represents the first functional characterization of the alternatively spliced AIRE mutation that may explain the pathogenetic role in APS-1.

  9. Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.

    Science.gov (United States)

    Amos, J S; Huang, L; Thevenon, J; Kariminedjad, A; Beaulieu, C L; Masurel-Paulet, A; Najmabadi, H; Fattahi, Z; Beheshtian, M; Tonekaboni, S H; Tang, S; Helbig, K L; Alcaraz, W; Rivière, J-B; Faivre, L; Innes, A M; Lebel, R R; Boycott, K M

    2017-01-01

    THOC6 is a part of the THO complex, which is involved in coordinating mRNA processing with export. The THO complex interacts with additional components to form the larger TREX complex (transcription export complex). Previously, a homozygous missense mutation in THOC6 in the Hutterite population was reported in association with syndromic intellectual disability. Using exome sequencing, we identified three unrelated patients with bi-allelic mutations in THOC6 associated with intellectual disability and additional clinical features. Two of the patients were compound heterozygous for a stop and a missense mutation, and the third was homozygous for a missense mutation; the missense mutations were predicted to be pathogenic by in silico analysis and modeling. Clinical features of the three newly identified patients and those previously reported are reviewed; intellectual disability is moderate to severe, and malformations are variable including renal and heart defects, cleft palate, microcephaly, and corpus callosum dysgenesis. Facial features are variable and include tall forehead, short upslanting palpebral fissures +/- deep set eyes, and a long nose with overhanging columella. These subtle facial features render the diagnosis difficult to make in isolation with certainty. Our results expand the mutational and clinical spectrum of this rare disease, confirm that THOC6 is an intellectual disability causing gene, while providing insight into the importance of the THO complex in neurodevelopment. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  10. [Pneumonia caused by granulomatous Pneumocystis carinii in a patient with the acquired immunodeficiency syndrome].

    Science.gov (United States)

    Tanaka, Y; Morikawa, T; Takeuchi, K; Furuiye, H; Fukumura, M; Mikami, R; Kawamura, S; Kakuta, Y; Tashiro, Y

    1998-08-01

    A 54-year-old man was admitted to the hospital because of fever and general fatigue. A chest roentgenogram on admission showed lobular opacities and ill-defined opacities in both lower lobes. The pneumonia was successfully treated with antibiotics. The acquired immunodeficiency syndrome was diagnosed because ELISA and PCR tests for antibodies to the human immunodeficiency virus were positive and the CD 4+ lymphocyte count was 39 per cubic millimeter. Examination of bronchoalveolar lavage fluid revealed no Pneumocystis carinii. Trimethoprim and sulfamethoxazole were given prophylactically, but were withdrawn because of a rash. The patient began to receive aerosolized pentamindine and was discharged. On the next day, he was readmitted to the hospital because of a high fever. A chest roentgenogram showed diffuse miliary opacities. Chest CT scan also showed diffuse small nodular opacities in both lungs. Examination of a transbronchial biopsy specimen revealed well-defined, noncaseating granulomas with pneumocystis organisms in their centers. Cultures for tuberculosis and fungi were all negative. We diagnosed granulomatous pneumonia caused by Pneumocystis carinii, which is an atypical manifestation of Pneumocystis carinii pneumonia. The patient died of sepsis and cardiac tamponade. Microscopically, the lung tissue was found to have foamy intra-alveolar exdates, which is a typical histological feature of Pneumocystis carinii pneumonia.

  11. Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome.

    Science.gov (United States)

    Bacrot, Séverine; Doyard, Mathilde; Huber, Céline; Alibeu, Olivier; Feldhahn, Niklas; Lehalle, Daphné; Lacombe, Didier; Marlin, Sandrine; Nitschke, Patrick; Petit, Florence; Vazquez, Marie-Paule; Munnich, Arnold; Cormier-Daire, Valérie

    2015-02-01

    Cerebro-costo-mandibular syndrome (CCMS) is a developmental disorder characterized by the association of Pierre Robin sequence and posterior rib defects. Exome sequencing and Sanger sequencing in five unrelated CCMS patients revealed five heterozygous variants in the small nuclear ribonucleoprotein polypeptides B and B1 (SNRPB) gene. This gene includes three transcripts, namely transcripts 1 and 2, encoding components of the core spliceosomal machinery (SmB' and SmB) and transcript 3 undergoing nonsense-mediated mRNA decay. All variants were located in the premature termination codon (PTC)-introducing alternative exon of transcript 3. Quantitative RT-PCR analysis revealed a significant increase in transcript 3 levels in leukocytes of CCMS individuals compared to controls. We conclude that CCMS is due to heterozygous mutations in SNRPB, enhancing inclusion of a SNRPB PTC-introducing alternative exon, and show that this developmental disease is caused by defects in the splicing machinery. Our finding confirms the report of SNRPB mutations in CCMS patients by Lynch et al. (2014) and further extends the clinical and molecular observations. © 2014 WILEY PERIODICALS, INC.

  12. MASA syndrome is caused by mutations in the neural cell adhesion gene, L1CAM

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    Schwartz, C.E.; Wang, Y.; Schroer, R.J.; Stevenson, R.E. [Greenwood Genetic Center, SC (United States)

    1994-09-01

    The MASA syndrome is a recessive X-linked disorder characterized by Mental retardation, Adducted thumbs, Shuffling gait and Aphasia. Recently we found that MASA in one family was likely caused by a point mutation in exon 6 of the L1CAM gene. This gene has also been shown to be involved in X-linked hydrocephalus (HSAS). We have screened 60 patients with either sporadic HSAS or MASA as well as two additional families with MASA. For the screening, we initially utilized 3 cDNA probes for the L1CAM gene. In one of the MASA families, K8310, two affected males were found to have an altered BglII band. The band was present in their carrier mother but not in their normal brothers. This band was detected by the entire cDNA probe as well as the cDNA probe for 3{prime} end of the gene. Analysis of the L1CAM sequence indicated the altered BglII site is distal to the exon 28 but proximal to the punative poly A signal site. It is hypothesized that this point mutation alters the stability of the L1CAM mRNA. This is being tested using cell lines established from the two affected males.

  13. Styloid/C1 transverse process juxtaposition as a cause of Eagle's syndrome.

    Science.gov (United States)

    Ho, Sandra; Luginbuhl, Adam; Finden, Steven; Curry, Joseph M; Cognetti, David M

    2015-11-01

    The purpose of this case report was to characterize styloid/C1 transverse process juxtaposition as a cause for Eagle's syndrome. A case series was conducted with a chart review of 5 patients with radiographic evidence of jugular vein compression who underwent styloid process excision between 2010 and 2013. There were 4 men and 1 woman, aged 35 to 62 years (mean, 46 years). Cervicalgia (4 of 5 patients) and otalgia (4 of 5 patients) were the most commonly reported symptoms. Styloid process length ranged from 2.4 to 8.5 cm. The distance between the styloid process and the transverse process of C1 ranged from 0.05 to 0.46 cm. All patients underwent a transcervical approach for the excision of the styloid process with immediate postoperative resolution of symptoms and good cosmetic results. Styloid/C1 transverse process juxtaposition can produce symptoms of cervicalgia and otalgia even in the setting of a normal length styloid process. The transcervical approach is safe and effective for excision of the styloid process and has good functional and cosmetic results. © 2015 Wiley Periodicals, Inc.

  14. Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

    Science.gov (United States)

    Kortüm, Fanny; Caputo, Viviana; Bauer, Christiane K; Stella, Lorenzo; Ciolfi, Andrea; Alawi, Malik; Bocchinfuso, Gianfranco; Flex, Elisabetta; Paolacci, Stefano; Dentici, Maria Lisa; Grammatico, Paola; Korenke, Georg Christoph; Leuzzi, Vincenzo; Mowat, David; Nair, Lal D V; Nguyen, Thi Tuyet Mai; Thierry, Patrick; White, Susan M; Dallapiccola, Bruno; Pizzuti, Antonio; Campeau, Philippe M; Tartaglia, Marco; Kutsche, Kerstin

    2015-06-01

    Zimmermann-Laband syndrome (ZLS) is a developmental disorder characterized by facial dysmorphism with gingival enlargement, intellectual disability, hypoplasia or aplasia of nails and terminal phalanges, and hypertrichosis. We report that heterozygous missense mutations in KCNH1 account for a considerable proportion of ZLS. KCNH1 encodes the voltage-gated K(+) channel Eag1 (Kv10.1). Patch-clamp recordings showed strong negative shifts in voltage-dependent activation for all but one KCNH1 channel mutant (Gly469Arg). Coexpression of Gly469Arg with wild-type KCNH1 resulted in heterotetrameric channels with reduced conductance at positive potentials but pronounced conductance at negative potentials. These data support a gain-of-function effect for all ZLS-associated KCNH1 mutants. We also identified a recurrent de novo missense change in ATP6V1B2, encoding the B2 subunit of the multimeric vacuolar H(+) ATPase, in two individuals with ZLS. Structural analysis predicts a perturbing effect of the mutation on complex assembly. Our findings demonstrate that KCNH1 mutations cause ZLS and document genetic heterogeneity for this disorder.

  15. The cubital tunnel syndrome caused by the intraneural or extraneural ganglion cysts: Case report and review of the literature.

    Science.gov (United States)

    Chang, Wen Kai; Li, Yong Ping; Zhang, Deng Feng; Liang, Bing Sheng

    2017-10-01

    Cubital tunnel syndrome is the second most common nerve compression syndrome in peripheral nerve compression disease. Although potential ulnar nerve entrapment can occur at multiple points along its course, such as the arcade of struthers, the medial intermuscular septum, the medial epicondyle, the cubital tunnel, and the deep flexor pronator aponeurosis, the most common site of entrapment is the cubital tunnel. However, cubital tunnel syndrome could also be caused by the occupying masses along the course of ulnar nerve, such as intraneural or extraneural ganglia. The cubital tunnel syndrome caused by intraneural or extraneural ganglion cysts has been rarely reported. In our hospital, there were 184 patients with cubital tunnel syndrome who underwent surgical treatment from January 2010 to January 2014. Of these patients, 16 had extraneural cysts and 3 had intraneural ganglion cysts. The incidence rate of cysts in the cubital tunnel was 10.33%. Electromyography was used as routine examination. Ultrasound was used only in some patients in whom elbow mass was suspected. In the surgery of the cubital tunnel syndrome combined with cyst, if any other cysts were found, we should be remove completely the cyts and decompress the ulnar nerve thoroughly with the ulnar nerve being anterior transposition. These cysts were confirmed by histopathological examination. Finally, we compared the clinical features of patients who had a medial elbow ganglion with those of patients who had only cubital tunnel syndrome. B ultrasound can significantly improve the diagnosis. All patients were followed up for 4 months to 2 years, and the curative effect was good. Copyright © 2017. Published by Elsevier Ltd.

  16. Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation.

    Science.gov (United States)

    Magerus-Chatinet, Aude; Stolzenberg, Marie-Claude; Lanzarotti, Nina; Neven, Bénédicte; Daussy, Cécile; Picard, Capucine; Neveux, Nathalie; Desai, Mukesh; Rao, Meghana; Ghosh, Kanjaksha; Madkaikar, Manisha; Fischer, Alain; Rieux-Laucat, Frédéric

    2013-02-01

    Autoimmune lymphoproliferative syndrome (ALPS) is characterized by chronic nonmalignant lymphoproliferation, accumulation of double-negative T cells, hypergammaglobulinemia G and A, and autoimmune cytopenia. Although mostly associated with FAS mutations, different genetic defects leading to impaired apoptosis have been described in patients with ALPS, including the FAS ligand gene (FASLG) in rare cases. Here we report on the first case of complete FAS ligand deficiency caused by a homozygous null mutant. Double-negative T-cell counts and plasma IL-10 and FAS ligand concentrations were determined as ALPS markers. The FASLG gene was sequenced, and its expression was analyzed by means of Western blotting. FAS ligand function was assessed based on reactivation-induced cell death. We describe a patient born to consanguineous parents who presented with a severe form of ALPS caused by FASLG deficiency. Although the clinical presentation was compatible with a homozygous FAS mutation, FAS-induced apoptosis was normal, and plasma FAS ligand levels were not detectable. This patient carries a homozygous, germline, single-base-pair deletion in FASLG exon 1, leading to a premature stop codon (F87fs x95) and a complete defect in FASLG expression. The healthy parents were each heterozygous for the mutation, confirming its recessive trait. FAS ligand deficiency should be screened in patients presenting with ALPS features but lacking the usual markers, including plasma soluble FAS ligand and an in vitro apoptotic defect. An activation-induced cell death test could help in discrimination. Copyright © 2012 American Academy of Allergy, Asthma & Immunology. Published by Mosby, Inc. All rights reserved.

  17. Disruption of a ciliary B9 protein complex causes Meckel syndrome.

    Science.gov (United States)

    Dowdle, William E; Robinson, Jon F; Kneist, Andreas; Sirerol-Piquer, M Salomé; Frints, Suzanna G M; Corbit, Kevin C; Zaghloul, Norann A; Zaghloul, Norran A; van Lijnschoten, Gesina; Mulders, Leon; Verver, Dideke E; Zerres, Klaus; Reed, Randall R; Attié-Bitach, Tania; Johnson, Colin A; García-Verdugo, José Manuel; Katsanis, Nicholas; Bergmann, Carsten; Reiter, Jeremy F

    2011-07-15

    Nearly every ciliated organism possesses three B9 domain-containing proteins: MKS1, B9D1, and B9D2. Mutations in human MKS1 cause Meckel syndrome (MKS), a severe ciliopathy characterized by occipital encephalocele, liver ductal plate malformations, polydactyly, and kidney cysts. Mouse mutations in either Mks1 or B9d2 compromise ciliogenesis and result in phenotypes similar to those of MKS. Given the importance of these two B9 proteins to ciliogenesis, we examined the role of the third B9 protein, B9d1. Mice lacking B9d1 displayed polydactyly, kidney cysts, ductal plate malformations, and abnormal patterning of the neural tube, concomitant with compromised ciliogenesis, ciliary protein localization, and Hedgehog (Hh) signal transduction. These data prompted us to screen MKS patients for mutations in B9D1 and B9D2. We identified a homozygous c.301A>C (p.Ser101Arg) B9D2 mutation that segregates with MKS, affects an evolutionarily conserved residue, and is absent from controls. Unlike wild-type B9D2 mRNA, the p.Ser101Arg mutation failed to rescue zebrafish phenotypes induced by the suppression of b9d2. With coimmunoprecipitation and mass spectrometric analyses, we found that Mks1, B9d1, and B9d2 interact physically, but that the p.Ser101Arg mutation abrogates the ability of B9d2 to interact with Mks1, further suggesting that the mutation compromises B9d2 function. Our data indicate that B9d1 is required for normal Hh signaling, ciliogenesis, and ciliary protein localization and that B9d1 and B9d2 are essential components of a B9 protein complex, disruption of which causes MKS. Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  18. [Complete human Klüver-Bucy syndrome after encephalitis caused by herpes simplex type 2].

    Science.gov (United States)

    Bakchine, S; Chain, F; Lhermitte, F

    1986-01-01

    A case of complete Klüver-Bucy syndrome is reported. A 42 year-old man developed Herpes Simplex type II (H.S.V.II) encephalitis. Good sparing of language functions allowed thorough neuropsychological testing. The troubles usually described in Klüver-Bucy syndrome as psychic blindness, colour agnosia, prosopagnosia, auditive and tactile agnosia were present. The authors theorize that these symptoms are mainly correlated with the amnestic syndrome, which is constantly reported in human Klüver-Bucy syndrome. Unfortunately, after 8 weeks, the encephalitis recurred and the patient was left demented and untestable.

  19. A Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation

    Directory of Open Access Journals (Sweden)

    Faruk Incecik

    2013-01-01

    Full Text Available Sjögren-Larsson syndrome (SLS is an inherited neurocutaneous disorder caused by mutations in the aldehyde dehydrogenase family 3 member A2 (ALDH3A2 gene that encodes fatty aldehyde dehydrogenase. Affected patients display ichthyosis, mental retardation, and spastic diplegia. More than 70 mutations in ALDH3A2 have been discovered in SLS patients. We diagnosed two brothers age of 12 and 20 years with characteristic features of this rare syndrome. Magnetic resonance imaging showed demyelinating disease in both of them. We described a novel homozygous, c. 835 T > A (p.Y279N mutation in exon 6 in two patients.

  20. Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

    DEFF Research Database (Denmark)

    Hoornaert, Kristien P; Vereecke, Inge; Dewinter, Chantal

    2010-01-01

    Stickler syndrome is an autosomal dominant connective tissue disorder caused by mutations in different collagen genes. The aim of our study was to define more precisely the phenotype and genotype of Stickler syndrome type 1 by investigating a large series of patients with a heterozygous mutation......-dependent amplification analysis was used for the detection of intragenic deletions. We identified 77 different COL2A1 mutations in 100 affected individuals. Analysis of the splice site mutations showed unusual RNA isoforms, most of which contained a premature stop codon. Vitreous anomalies and retinal detachments were...

  1. Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.

    Science.gov (United States)

    Williamson, Kathleen A; Hever, Ann M; Rainger, Joe; Rogers, R Curtis; Magee, Alex; Fiedler, Zdenek; Keng, Wee Teik; Sharkey, Freddie H; McGill, Niolette; Hill, Clare J; Schneider, Adele; Messina, Mario; Turnpenny, Peter D; Fantes, Judy A; van Heyningen, Veronica; FitzPatrick, David R

    2006-05-01

    We report heterozygous, loss-of-function SOX2 mutations in three unrelated individuals with Anophthalmia-Esophageal-Genital (AEG) syndrome. One previously reported case [Rogers, R.C. (1988) Unknown cases. Proceedings of the Greenwood Genetic Center. 7, 57.] has a 2.7 Mb deletion encompassing SOX2 and associated with a cryptic translocation t(3;7)(q28;p21.3). The deletion and translocation breakpoints on chromosome 3q are >8.6 Mb apart and both chromosome rearrangements have occurred de novo. Another published case [Petrackova et al. (2004) Association of oesophageal atresia, anophthalmia and renal duplex. Eur. J. Pediatr., 163, 333-334.] has a de novo nonsense mutation, Q55X. A previously unreported case with severe bilateral microphthalmia and oesophageal atresia has a de novo missense mutation, R74P, that alters a highly evolutionarily conserved residue within the high mobility group domain, which is critical for DNA-binding of SOX2. In a yeast one-hybrid assay, this mutation abolishes Sox2-induced activation of the chick delta-crystallin DC5 enhancer. Four other reported AEG syndrome cases were extensively screened and do not have detectable SOX2 mutations. Two of these cases have unilateral eye malformations. SOX2 mutations are known to cause severe bilateral eye malformations but this is the first report implicating loss of function mutations in this transcription factor in oesophageal malformations. SOX2 is expressed in the developing foregut in mouse and zebrafish embryos and an apparently normal pattern of expression is maintained in Shh-/- mouse embryos, suggesting either that Sox2 acts upstream of Shh or functions in a different pathway. Three-dimensional reconstructions of the major morphological events in the developing foregut and eye from Carnegie Stages 12 and 13 human embryos are presented and compared with the data from model organisms. SOX2, with NMYC and CHD7, is now the third transcriptional regulator known to be critical for normal oesophageal

  2. Acute Compartment Syndrome Which Causes Rhabdomyolysis by Carbon Monoxide Poisoning and Sciatic Nerve Injury Associated with It: A Case Report.

    Science.gov (United States)

    Ji, Jung-Woo

    2017-09-01

    Rhabdomyolysis is most frequently caused by soft tissue injury with trauma to the extremities. Non-traumatic rhabdomyolysis may be caused by alcohol or drug abuse, infection, collagen disease, or intensive exercise, but incidence is low. In particular, rhabdomyolysis resulting from carbon monoxide poisoning is especially rare. If caught before death, carbon monoxide poisoning has been shown to cause severe muscle necrosis and severe muscle damage leading to acute renal failure. In cases of carbon-monoxide-induced rhabdomyolsis leading to acute compartment syndrome in the buttocks and sciatic nerve injury are rare. We have experience treating patients with acute compartment syndrome due to rhabdomyolysis following carbon monoxide poisoning. We report the characteristic features of muscle necrosis observed during a decompression operation and magnetic resonance imaging findings with a one-year follow-up in addition to a review of the literature.

  3. Endoscopic fasciotomy in chronic exertional compartment syndrome of the forearm caused by heavy manual work – case report

    Directory of Open Access Journals (Sweden)

    Wilmink, Beate

    2016-06-01

    Full Text Available Chronic exertional compartment syndrome (CECS of the forearm is a rare condition causing pain, tenderness, swelling, paraesthesia and muscle weakness. It is caused by a critical augmentation of the extracellular pressure of the forearm compartments induced by intensive sport or heavy manual work. This case report describes a 33-year-old demolition worker who presented with chronic exertional compartment syndrome of both forearms induced by severe physical work. The exclusion diagnosis was made based on clinical and electro-physiological examinations. The patient was treated using a minimal-invasive one portal endoscopic fasciotomy. He resumed to full work duties with no recurrence of symptoms during strain caused by heavy lifting and carrying. In conclusion, endoscopic forearm fascial release is a safe, efficient and minimally invasive technique that avoids the disadvantages associated with open decompression in cases of CECS and facilitates an early resumption of work.

  4. Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation.

    NARCIS (Netherlands)

    Verstraeten, V.L.; Broers, J.L.; Steensel, M.A.M. van; Zinn-Justin, S.; Ramaekers, F.C.S.; Steijlen, P.M.; Kamps, M.; Kuijpers, H.J.; Merckx, D.; Smeets, H.J.M.; Hennekam, R.C.M.; Marcelis, C.L.M.; Wijngaard, A. van de

    2006-01-01

    LMNA-associated progeroid syndromes have been reported with both recessive and dominant inheritance. We report a 2-year-old boy with an apparently typical Hutchinson-Gilford progeria syndrome (HGPS) due to compound heterozygous missense mutations (p.T528M and p.M540T) in LMNA. Both mutations affect

  5. Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation

    NARCIS (Netherlands)

    Verstraeten, Valerie L. R. M.; Broers, Jos L. V.; van Steensel, Maurice A. M.; Zinn-Justin, Sophie; Ramaekers, Frans C. S.; Steijlen, Peter M.; Kamps, Miriam; Kuijpers, Helma J. H.; Merckx, Diane; Smeets, Hubert J. M.; Hennekam, Raoul C. M.; Marcelis, Carlo L. M.; van den Wijngaard, Arthur

    2006-01-01

    LMNA-associated progeroid syndromes have been reported with both recessive and dominant inheritance. We report a 2-year-old boy with an apparently typical Hutchinson-Gilford progeria syndrome (HGPS) due to compound heterozygous missense mutations (p.T528M and p.M540T) in LMNA. Both mutations affect

  6. Can elevated IGF-1 levels among patients with Ehlers-Danlos syndrome cause idiopathic intracranial hypertension?

    Science.gov (United States)

    Kurian, Michelle; Solomon, Glen D

    2013-01-01

    We offer for consideration a possible association between hypermobility syndrome seen in Ehlers-Danlos syndrome and risk of potential development of idiopathic intracranial hypertension - mediated primarily through the effects of insulin-like growth factor-1. © 2013 American Headache Society.

  7. Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome

    NARCIS (Netherlands)

    Kalff-Suske, M.; Wild, A.; Topp, J.; Wessling, M.; Jacobsen, E. M.; Bornholdt, D.; Engel, H.; Heuer, H.; Aalfs, C. M.; Ausems, M. G.; Barone, R.; Herzog, A.; Heutink, P.; Homfray, T.; Gillessen-Kaesbach, G.; König, R.; Kunze, J.; Meinecke, P.; Müller, D.; Rizzo, R.; Strenge, S.; Superti-Furga, A.; Grzeschik, K. H.

    1999-01-01

    Greig cephalopolysyndactyly syndrome, characterized by craniofacial and limb anomalies (GCPS; MIM 175700), previously has been demonstrated to be associated with translocations as well as point mutations affecting one allele of the zinc finger gene GLI3. In addition to GCPS, Pallister-Hall syndrome

  8. [Obstructive sleep apnea syndrome: a cause of cognitive disorders in the elderly?].

    Science.gov (United States)

    Kinugawa, K; Nguyen-Michel, V H; Mariani, J

    2014-10-01

    Obstructive sleep apnea syndrome is a chronic disease characterized by repeated upper airway obstructions during sleep, resulting in fragmented sleep with arousals, nocturnal intermittent hypoxemia and diurnal dysfunctions. Despite its high prevalence in elderly, sleep apnea syndrome seems to be underestimated and difficult to be recognized because of the lack of clinical symptoms specificity in this population. Among the numerous consequences of the obstructive sleep apnea syndrome, cognitive impairment prevails on the attention, executive functions and memory. Neuroimaging studies in human and experimental models allowed to highlight neural correlates of these cognitive dysfunctions in obstructive sleep apnea syndrome. The obstructive sleep apnea syndrome with cognitive impairment shares some features with Alzheimer's disease, involving genetic predisposition ApoE4, hippocampus and synaptic plasticity abnormalities. In this context, the question arises whether obstructive sleep apnea syndrome is a possible etiological or aggravating factor of cognitive decline in elderly with mild cognitive impairment or Alzheimer's disease. Although there are conflicting results in studies evaluating therapeutic efficiency of continuous positive air pressure, obstructive sleep apnea syndrome seems nevertheless as a correctable factor, at least for its impact on some cognitive consequences. Looking for sleep apnea syndrome in elderly with cognitive decline should be considered in a global, diagnosis and therapeutic management. Copyright © 2014 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.

  9. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

    DEFF Research Database (Denmark)

    Hoischen, Alexander; van Bon, Bregje W M; Rodríguez-Santiago, Benjamín

    2011-01-01

    Bohring-Opitz syndrome is characterized by severe intellectual disability, distinctive facial features and multiple congenital malformations. We sequenced the exomes of three individuals with Bohring-Opitz syndrome and in each identified heterozygous de novo nonsense mutations in ASXL1, which...

  10. Ventricular tachycardia in a Brugada syndrome patient caused by a novel deletion in SCN5A

    DEFF Research Database (Denmark)

    Tfelt-Hansen, J; Jespersen, Thomas; Hofman-Bang, J

    2009-01-01

    The aim of the present study was to identify the molecular mechanism behind ventricular tachycardia in a patient with Brugada syndrome. Arrhythmias in patients with Brugada syndrome often occur during sleep. However, a 28-year-old man with no previously documented arrhythmia or syncope who...

  11. Enterohemorrhagic Escherichia coli as causes of hemolytic uremic syndrome in the Czech Republic.

    Science.gov (United States)

    Marejková, Monika; Bláhová, Květa; Janda, Jan; Fruth, Angelika; Petráš, Petr

    2013-01-01

    Enterohemorrhagic Escherichia coli (EHEC) cause diarrhea-associated hemolytic uremic syndrome (D+ HUS) worldwide, but no systematic study of EHEC as the causative agents of HUS was performed in the Czech Republic. We analyzed stools of all patients with D+ HUS in the Czech Republic between 1998 and 2012 for evidence of EHEC infection. We determined virulence profiles, phenotypes, antimicrobial susceptibilities and phylogeny of the EHEC isolates. Virulence loci were identified using PCR, phenotypes and antimicrobial susceptibilities were determined using standard procedures, and phylogeny was assessed using multilocus sequence typing. During the 15-year period, EHEC were isolated from stools of 39 (69.4%) of 56 patients. The strains belonged to serotypes [fliC types] O157:H7/NM[fliC(H7)] (50% of which were sorbitol-fermenting; SF), O26:H11/NM[fliC(H11)], O55:NM[fliC(H7)], O111:NM[fliC(H8)], O145:H28[fliC(H28)], O172:NM[fliC(H25)], and Orough:NM[fliC(H250]. O26:H11/NM[fliC(H11)] was the most common serotype associated with HUS (41% isolates). Five stx genotypes were identified, the most frequent being stx(2a) (71.1% isolates). Most strains contained EHEC-hlyA encoding EHEC hemolysin, and a subset (all SF O157:NM and one O157:H7) harbored cdt-V encoding cytolethal distending toxin. espPα encoding serine protease EspPα was found in EHEC O157:H7, O26:H11/NM, and O145:H28, whereas O172:NM and Orough:NM strains contained espPγ. All isolates contained eae encoding adhesin intimin, which belonged to subtypes β (O26), γ (O55, O145, O157), γ2/θ (O111), and ε (O172, Orough). Loci encoding other adhesins (efa1, lpfA(O26), lpfA(O157OI-141), lpfA(O157OI-154), iha) were usually associated with particular serotypes. Phylogenetic analysis demonstrated nine sequence types (STs) which correlated with serotypes. Of these, two STs (ST660 and ST1595) were not found in HUS-associated EHEC before. EHEC strains, including O157:H7 and non-O157:H7, are frequent causes of D+ HUS in the

  12. Enterohemorrhagic Escherichia coli as Causes of Hemolytic Uremic Syndrome in the Czech Republic

    Science.gov (United States)

    Marejková, Monika; Bláhová, Květa; Janda, Jan; Fruth, Angelika; Petráš, Petr

    2013-01-01

    Background Enterohemorrhagic Escherichia coli (EHEC) cause diarrhea-associated hemolytic uremic syndrome (D+ HUS) worldwide, but no systematic study of EHEC as the causative agents of HUS was performed in the Czech Republic. We analyzed stools of all patients with D+ HUS in the Czech Republic between 1998 and 2012 for evidence of EHEC infection. We determined virulence profiles, phenotypes, antimicrobial susceptibilities and phylogeny of the EHEC isolates. Methodology/Principal Findings Virulence loci were identified using PCR, phenotypes and antimicrobial susceptibilities were determined using standard procedures, and phylogeny was assessed using multilocus sequence typing. During the 15-year period, EHEC were isolated from stools of 39 (69.4%) of 56 patients. The strains belonged to serotypes [fliC types] O157:H7/NM[fliCH7] (50% of which were sorbitol-fermenting; SF), O26:H11/NM[fliCH11], O55:NM[fliCH7], O111:NM[fliCH8], O145:H28[fliCH28], O172:NM[fliCH25], and Orough:NM[fliCH25]. O26:H11/NM[fliCH11] was the most common serotype associated with HUS (41% isolates). Five stx genotypes were identified, the most frequent being stx2a (71.1% isolates). Most strains contained EHEC-hlyA encoding EHEC hemolysin, and a subset (all SF O157:NM and one O157:H7) harbored cdt-V encoding cytolethal distending toxin. espPα encoding serine protease EspPα was found in EHEC O157:H7, O26:H11/NM, and O145:H28, whereas O172:NM and Orough:NM strains contained espPγ. All isolates contained eae encoding adhesin intimin, which belonged to subtypes β (O26), γ (O55, O145, O157), γ2/θ (O111), and ε (O172, Orough). Loci encoding other adhesins (efa1, lpfAO26, lpfAO157OI-141, lpfAO157OI-154, iha) were usually associated with particular serotypes. Phylogenetic analysis demonstrated nine sequence types (STs) which correlated with serotypes. Of these, two STs (ST660 and ST1595) were not found in HUS-associated EHEC before. Conclusions/Significance EHEC strains, including O157:H7 and non

  13. A rare cause of acute abdominal pain: Herlyn-Werner-Wunderlich syndrome.

    Science.gov (United States)

    Aydin, Ramazan; Ozdemir, Ayse Zehra; Ozturk, Bahadir; Bilgici, Meltem Ceyhan; Tosun, Migraci

    2014-01-01

    Herlyn-Werner-Wunderlich (HWW) syndrome is a rare müllerian duct anomaly with uterus didelphys, unilateral obstructed hemivagina, and ipsilateral renal agenesis. Patients with this syndrome generally present after menarche with pelvic pain and mass and, rarely, primary infertility in later years. Strong suspicion and knowledge of this syndrome are mandatory for an accurate diagnosis. A 14-year-old female patient presented with acute retention of urine and abdominopelvic pain. Her condition was diagnosed with the use ultrasonography and magnetic resonance imaging as a case of HWW syndrome. She was treated with vaginal hemiseptal resection. The HWW syndrome should be considered among the differential diagnoses in girls with renal anomalies presenting with pelvic mass, symptoms of acute abdominal pain, and acute urinary retention.

  14. Can washing socks without flipping inside out cause hair tourniquet syndrome? A claim with two case reports.

    Science.gov (United States)

    Uygur, Esat; Çarkçi, Engin; Ünkar, Ethem

    2017-03-01

    Hair tourniquet syndrome (HTS) is a rare, painful condition that results when hair or pieces of thread become wrapped tightly around toes, fingers, or other appendages, occluding blood flow and causing strangulation or amputation. Although the aetiology of HTS is unclear, we postulate that washing baby socks in a washing machine without turning them inside out might be a cause. Mothers should be informed about HTS and this simple prevention method should be suggested to them. Here, we present two cases of HTS and discuss possible causes.

  15. Differentiating cause-of-death terminology for deaths coded as sudden infant death syndrome, accidental suffocation, and unknown cause: an investigation using US death certificates, 2003-2004.

    Science.gov (United States)

    Kim, Shin Y; Shapiro-Mendoza, Carrie K; Chu, Susan Y; Camperlengo, Lena T; Anderson, Robert N

    2012-03-01

    We compared written text on infant death certificates for deaths coded as sudden infant death syndrome (R95), unknown cause (R99), and accidental suffocation (W75). Using US mortality files supplemented with the death certifiers' written text for all infant deaths with International Classification of Diseases (ICD)-10 assigned codes R95, R99, and W75, we formed cause-of-death subcategories from common themes identified from the written text. Among all infant deaths in 2003-2004, the underlying cause of death was listed as R99 for 2128 deaths, R95 for 4408 deaths, and W75 for 931 deaths. Among the postneonatal deaths, the differences in subcategories varied between assigned ICD-10 codes: for R99-coded deaths, 45.8% were categorized as "Unknown" and 48.6% as "Pending"; for R95-coded deaths, 67.7% were categorized as "sudden infant death syndrome (SIDS)"; and for W75-coded deaths, 76.4% were categorized as "Suffocation." Examination of the written text on the death certificates demonstrates variability in the assigned ICD-10 codes which could have an important effect on the estimates of SIDS cases in the United States. 2011 American Academy of Forensic Sciences. Published 2011. This article is a U.S. Government work and is in the public domain in the U.S.A.

  16. [Central salt-wasting diuresis syndrome as a cause of hyponatremia in patients at the internal medicine department].

    Science.gov (United States)

    Safárová, R; Horácková, M; Vanková, S; Forejt, J; Hása, J

    2001-07-01

    Hyponatremia is a common electrolyte disorder related to central nervous system diseases and is often attributed to the syndrome of inappropriate antidiuretic hormone secretion (SIADH) and on the other hand to the cerebral salt wasting syndrome (CSWS). This syndrome is characterized by hyponatremia due to excessive renal sodium excretion resulting from a centrally mediated process. Given the divergent nature of the treatment it is of paramount importance for a clinician to be able to recognize and differentiate between these two entities. Thus the monitoring of renal function tests, which are needed for earlier diagnosis of effective osmolality disorders, is important to do in intensive care units, which are caring for patients with central nervous system lesons. Two patients successfully treated for CSW due to ischemic stroke caused by arterial embolism from heart cavities are described.

  17. [Mirizzi's syndrome: a rare cause of biliary tract obstruction: about a case and review of the literature].

    Science.gov (United States)

    Bellamlih, Habib; Bouimetarhan, Lamiae; En-Nouali, Hassan; Amil, Touria; Chouaib, Naoufal; Jidane, Said; Rafai, Mostafa; Belkouch, Ahmed; Belyamani, Lahcen

    2017-01-01

    Mirizzi's syndrome is a rare complication of chronic vesicular lithiasis with prevalence ranging from 0.7% to 1.4% among patients who have undergone cholecystectomy. It is characterized by cholestatic icterus associated with compression of the common bile duct due to lodged calculus in the vesicular neck or in the cystic duct. The disease can evolve toward the erosion through the common hepatic duct wall and, therefore, it can cause the formation of a gallbladder-biliary fistula. We here report a case of Mirizzi's syndrome type I in order to highlight the role of preoperative diagnosis which is made easier by endoscopic retrograde cholangiography or by cholangio-MRI, allowing to avoid iatrogenic bile duct injuries. We conducted a review of the available literature on various aspects of this syndrome, including its pathogenesis, diagnosis and management.

  18. A comprehensive review on experimental and clinical findings in intermediate syndrome caused by organophosphate poisoning

    Energy Technology Data Exchange (ETDEWEB)

    Abdollahi, Mohammad, E-mail: mohammad.abdollahi@utoronto.ca; Karami-Mohajeri, Somayyeh

    2012-02-01

    Acute organophosphate (OP) intoxication is important because of its high morbidity and mortality and occurrence of muscular paralysis associated by inhibition of acetylcholinesterase (AChE) activity at the neuromuscular junction. Cholinergic crisis, intermediate syndrome (IMS), and OP-induced delayed neuropathy (OPIDN) are the evidences that can be observed in OP intoxication. The main cause of morbidity due to OP poisoning is IMS that occurs 24–96 h after poisoning. Mechanisms underlying the IMS are not fully known. Although the electrophysiological aspects of delayed neuropathy are best characterized, the IMS remain very little studied. The aim of this study was to revisit current knowledge related to OP and the IMS. For this purpose, a systematic review without date limitation was performed. A total of 599 relevant articles were found and reviewed. Data were categorized according to experimental and clinical studies. Occurrences of persistent AChE inhibition, electromyography changes, muscle cell injury, and oxidative stress are the most important pieces of evidence for involvement of IMS in OP toxicity. Delayed AChE inhibition, muscle necrosis, down regulation or desensitization of postsynaptic ACh receptors, failure of postsynaptic ACh release, and oxidative stress-related myopathy are involved in IMS. Toxicokinetic factors, such as a high lipid-solubility, duration of AChE inhibition and metabolite excretion, evolution of alterations on repetitive nerve stimulation (RNS), type and frequency of muscle lesions can estimate the probability of the IMS. Plasma AChE of less than 200 units is a predictor and the 30 Hz RNS decremental response could be a useful marker for the IMS.

  19. A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma.

    Directory of Open Access Journals (Sweden)

    Shazia Micheal

    Full Text Available Anterior segment dysgenesis (ASD disorders are a group of clinically and genetically heterogeneous phenotypes in which frequently cornea, iris, and lens are affected. This study aimed to identify novel mutations in PAX6, PITX2 and FOXC1 in families with anterior segment dysgenesis disorders.We studied 14 Pakistani and one Mexican family with Axenfeld Rieger syndrome (ARS; n = 10 or aniridia (n = 5. All affected and unaffected family members underwent full ophthalmologic and general examinations. Total genomic DNA was isolated from peripheral blood. PCR and Sanger sequencing were performed for the exons and intron-exon boundaries of the FOXC1, PAX6, and PITX2 genes.Mutations were identified in five of the 15 probands; four variants were novel and one variant was described previously. A novel de novo variant (c.225C>A; p.Tyr75* was identified in the PAX6 gene in two unrelated probands with aniridia. In addition, a known variant (c.649C>T; p.Arg217* in PAX6 segregated in a family with aniridia. In the FOXC1 gene, a novel heterozygous variant (c.454T>C; p.Trp152Arg segregated with the disease in a Mexican family with ARS. A novel homozygous variant (c.92_100del; p.Ala31_Ala33del in the FOXC1 gene segregated in a Pakistani family with ARS and congenital glaucoma.Our study expands the mutation spectrum of the PAX6 and FOXC1 genes in individuals with anterior segment dysgenesis disorders. In addition, our study suggests that FOXC1 mutations, besides typical autosomal dominant ARS, can also cause ARS with congenital glaucoma through an autosomal recessive inheritance pattern. Our results thus expand the disease spectrum of FOXC1, and may lead to a better understanding of the role of FOXC1 in development.

  20. Cubital tunnel syndrome caused by ganglion cysts: a review of 59 cases.

    Science.gov (United States)

    Tong, Jinsong; Xu, Bin; Dong, Zhen; Liu, Jingbo; Zhang, Chenggang; Gu, Yudong

    2017-07-01

    Cubital tunnel syndrome caused by ganglion cysts is rare and reports are few. This study aimed to review a patient cohort with ganglion cysts in the cubital tunnel and identify prognostic factors. Fifty-seven patients (59 extremities; McGowan grade I, 4; IIa, 4; IIb, 3; III, 48) were evaluated retrospectively with a minimum follow-up of 2 years. Extraneural cysts were excised completely, while intraneural cysts were incised and drained. All cases underwent subcutaneous transposition. Spearman's rank correlation and the ordinal logistic regression model were used to assess the effect of independent variables on the postoperative McGowan grade. VAS pain and weakness, 2-PD, key-pinch strength, grip strength, first dorsal interosseous muscle strength, Wartenberg sign, and claw hand all improved significantly. DASH scores improved from an average of 43.8 points preoperatively to 10.7 points postoperatively. According to the modified Bishop scoring system, 55 extremities (93.2%) were graded good or excellent. At the last follow-up, 29 hands (49.2%) returned to normal, and improvement by at least one McGowan grade was reached in 51 cases (86.4%). Older age, smoking, and shorter postoperative follow-up were associated with a higher postoperative McGowan grade. Satisfactory surgical outcomes could be expected in these patients following subcutaneous transposition with excision of extraneural cysts and draining of intraneural cysts. Older age, smoking, and shorter postoperative follow-up were found to be independent risk factors for poor outcomes.

  1. Obstructive sleep apnoea syndrome as a cause of road traffic accidents.

    Science.gov (United States)

    Aguiar, M; Valença, J; Felizardo, M; Caeiro, F; Moreira, S; Staats, R; Bugalho de Almeida, A A

    2009-01-01

    Several studies have demonstrated that obstructive sleep apnoea syndrome (OSAS) patients have a higher rate of road traffic accidents. Our study aimed to analyse any differences in OSAS patients between those who reported having had road traffic accidents and/or near misses and those who did not. We studied 163 patients with OSAS (apnoea- hypopnoea index (AHI)>10/h) diagnosed using nocturnal polysomnography (NPSG), all drivers, 18.4% of whom drove for a living. Patients were asked at their first clinical interview to self-report road traffic accidents and/or near misses over the past 3 years which had been caused by abnormal daytime drowsiness. This allowed patients to be divided into two groups, those who had had road traffic accidents and/or near misses and those who had not. Both were compared as to age, body mass index (BMI), Epworth Sleepiness Scale (ESS), daytime PaO2 and PaCO2, Functional Outcomes of Sleep Questionnaire (FOSQ) test and NPSG data. This latter was total sleep time (TTS), sleep efficiency, sleep stages, arousal index (ARI), AHI, minimal and average SaO2, % of time with SaO2 TDAH) (T test). Group I (no road traffic accidents) No=89 patients; group II (road traffic accidents) No=74 patients. Age (years) was 57.6+/-11.8 vs. 54.7+/-10.9 (ns); male gender, 75% vs. 78.4%; ESS, 12.3+/-5.4 vs. 17.6+/-4.3 (pTDAH (minutes), 98.5+/-63.7 vs. 133.3+/-83.2 (p=0,005). In our experience patients who had road traffic accidents and/or near misses had a more severe OSAS, with higher AHI, excessive daytime sleepiness and lower quality of life.

  2. A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility.

    Science.gov (United States)

    Chen, Tailai; Bian, Yuehong; Liu, Xiaoman; Zhao, Shigang; Wu, Keliang; Yan, Lei; Li, Mei; Yang, Zhenglin; Liu, Hongbin; Zhao, Han; Chen, Zi-Jiang

    2017-09-07

    Empty follicle syndrome (EFS) is defined as the failure to aspirate oocytes from mature ovarian follicles during in vitro fertilization. Except for some cases caused by pharmacological or iatrogenic problems, the etiology of EFS remains enigmatic. In the present study, we describe a large family with a dominant inheritance pattern of female infertility characterized by recurrent EFS. Genome-wide linkage analyses and whole-exome sequencing revealed a paternally transmitted heterozygous missense mutation of c.400 G>A (p.Ala134Thr) in zona pellucida glycoprotein 3 (ZP3). The same mutation was identified in an unrelated EFS pedigree. Haplotype analysis revealed that the disease allele of these two families came from different origins. Furthermore, in a cohort of 21 cases of EFS, two were also found to have the ZP3 c.400 G>A mutation. Immunofluorescence and histological analysis indicated that the oocytes of the EFS female had degenerated and lacked the zona pellucida (ZP). ZP3 is a major component of the ZP filament. When mutant ZP3 was co-expressed with wild-type ZP3, the interaction between wild-type ZP3 and ZP2 was markedly decreased as a result of the binding of wild-type ZP3 and mutant ZP3, via dominant negative inhibition. As a result, the assembly of ZP was impeded and the communication between cumulus cells and the oocyte was prevented, resulting in oocyte degeneration. These results identified a genetic basis for EFS and oocyte degeneration and, moreover, might pave the way for genetic diagnosis of infertile females with this phenotype. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  3. Noonan Syndrome: An Underestimated Cause of Severe to Profound Sensorineural Hearing Impairment. Which Clues to Suspect the Diagnosis?

    Science.gov (United States)

    Ziegler, Alban; Loundon, Natalie; Jonard, Laurence; Cavé, Hélène; Baujat, Geneviève; Gherbi, Souad; Couloigner, Vincent; Marlin, Sandrine

    2017-09-01

    To highlight Noonan syndrome as a clinically recognizable cause of severe to profound sensorineural hearing impairment. New clinical cases and review. Patients evaluated for etiological diagnosis by a medical geneticist in a reference center for hearing impairment. Five patients presenting with confirmed Noonan syndrome and profound sensorineural hearing impairment. Diagnostic and review of the literature. Five patients presented with profound sensorineural hearing impairment and molecularly confirmed Noonan syndrome. Sensorineural hearing impairment has been progressive for three patients. Cardiac echography identified pulmonary stenosis in two patients and was normal for the three other patients. Short stature was found in two patients. Mild intellectual disability was found in one patient. Inconspicuous clinical features as facial dysmorphism, cryptorchidism, or easy bruising were of peculiar interest to reach the diagnosis of Noonan syndrome. Profound sensorineural hearing impairment can be the main feature of Noonan syndrome. Associated features are highly variable; thus, detailed medical history and careful physical examination are mandatory to consider the diagnosis in case of a sensorineural hearing impairment.

  4. Carpal tunnel syndrome caused by a giant cell tumour of the flexor tendon sheath.

    Science.gov (United States)

    Meek, Marcel F; Sheikh, Zahid A; Quinton, David N

    2014-02-01

    A 76-year-old woman developed right carpal tunnel syndrome after being conservatively treated for tenosynovitis of the flexor tendons with associated mild carpal tunnel syndrome. A magnetic resonance imaging scan showed a tumour in the carpal tunnel. Re-exploration showed that the median nerve was being compressed by a giant cell tumour of the flexor tendon sheaths. Appropriate imaging is advised in patients with additional findings (such as swelling) or in patients with secondary carpal tunnel syndrome and incomplete response to conservative treatment, to exclude a space-occupying lesion.

  5. Primary Cytomegalovirus Infection Causing Guillain-Barré Syndrome in a Living Renal Allograft Recipient

    Directory of Open Access Journals (Sweden)

    Massini Merzkani

    2017-01-01

    Full Text Available Guillain-Barré Syndrome (GBS is a common acute autoimmune polyneuropathy in adults. There have been few reported cases of Guillain-Barré Syndrome associated with active cytomegalovirus (CMV infection in renal transplant recipients. Here we present a case of active CMV viremia inducing Guillain-Barré Syndrome in a renal transplant recipient. We discuss the treatment regimen utilized. Furthermore, we performed a review of the literature and discuss the cases of CMV induced GBS in renal transplant recipients.

  6. Complex Regional Pain Syndrome Caused by Lumbar Herniated Intervertebral Disc Disease.

    Science.gov (United States)

    Kim, Se Hee; Choi, Sang Sik; Lee, Mi Kyung; Kin, Jung Eun

    2016-07-01

    Most cases of complex regional pain syndrome (CRPS) occur after some inciting injury. There are a few cases of CRPS after an operation for disc disease. CRPS from a mild herniated intervertebral disc (HIVD) without surgical intervention is even rarer than CRPS after an operation for disc disease.A 22-year-old man was transferred to a pain clinic. He had continuously complained about back and right leg pain. He presented with a skin color change in the right lower leg, intermittent resting tremor, stiffness, and swelling in the right leg. He complained of a pulling sensation and numbness in his right buttock, posterior thigh, lateral calf, and ankle. This symptom was in accordance with L4/5 radiculopathy. Magnetic resonance imaging (MRI) also showed L4/5 HIVD that was central to the bilateral subarticular protrusion.He was diagnosed as having CRPS, which fits the revised International Association for the Study of Pain (IASP) criteria. He fulfilled 4 symptom categories (allodynia, temperature asymmetry and skin color change, sweating changes, decreased range of motion and motor dysfunction) and 3 of 4 sign categories (allodynia, temperature asymmetry and skin color changes, decreased range of motion and motor dysfunction). The bone scan and thermography also revealed CRPS.For the past 2 months, we have performed intensive treatments. But, he never became pain-free and walking for 5 minutes led to persistent leg pain. We decided to perform percutaneous nucleoplasty, which can directly decompress a HIVD. On the next day, he achieved dramatic symptom relief. The visual analog scale (VAS) score improved to 3, compared to the VAS score of 9 at the first visit. The skin color change, allodynia, and tremor in the right leg disappeared, and the temperature asymmetry normalized. Motor weakness of the right leg also recovered.We report an unusual case of CRPS that was caused by L4/5 HIVD without a history of trauma or surgery. It has a clear causal relationship between HIVD

  7. Metabolic syndrome in Russian adults: associated factors and mortality from cardiovascular diseases and all causes

    Directory of Open Access Journals (Sweden)

    Grjibovski Andrej M

    2010-09-01

    Full Text Available Abstract Background Metabolic syndrome (MetS is a cluster of four major obesity-related risk factors for cardiovascular disease (CVD. Russia has one of the highest CVD mortality in the world, but its association with MetS remains unknown. Also little is known about factors associated with MetS and its components in Russia. Methods Data on 3555 adults aged 18-90 years were collected in a cross-sectional study in 2000. MetS was defined by the International Diabetes Federation (IDF and National Cholesterol Education Program (NCEP criteria. Sex-specific associations between the IDF-defined MetS, its components, and life-style, socio-economic factors and laboratory indicators, were analysed using multivariable Poisson regression. Vital status of the study participants was identified by July 2009. Sex-specific associations between MetS and stroke, Coronary Heart Disease (CHD, CVD and all-cause death, were studied by Poisson regression adjusted for age, smoking, alcohol and history of CVDs. Results After adjustment for all studied factors except BMI, age, serum GGT, C-reactive protein and AST-to-ALT ratio were associated with MetS in both genders. Additionally, MetS was associated with sedentary lifestyle in women and with smoking in men. In the same regression model drinking alcohol 2-4 times a month and consumption of five or more alcohol units at one occasion in men, and drinking alcohol 5 times or more a month in women were inversely associated with MetS. After a 9-year follow-up, MetS was associated with higher risk of death from stroke (RR = 3.76, 95% CI:1.35-10.46 and from either stroke or myocardial infarction (MI, RR = 2.87, 95% CI:1.32-6.23 in men. No associations between MetS and any of the studied causes of death were observed in women. Conclusion Factors associated with MetS in both genders were age, GGT, C-reactive protein, and AST-to-ALT ratio. Moderate frequency of alcohol consumption and binge drinking in men and higher leisure time

  8. 'To swim or not to swim': the impact of jellyfish stings causing Irukandji Syndrome in Tropical Queensland.

    Science.gov (United States)

    Sando, Jennifer J; Usher, Kim; Buettner, Petra

    2010-01-01

    This manuscript presents both demographic and descriptive data related to a distressing clinical condition known as Irukandji syndrome. Chart audit and observation data were collected to explore trends in patient characteristics and to review the current practices surrounding the management of the syndrome by advanced practice ED nurses. Irukandji syndrome, a known health emergency in northern Australia, causes severe symptoms such as muscle pains, nausea and vomiting, headache and chest pain causing clinical challenges for emergency nurses. Little is written about this condition from a nursing perspective. A mixed methods case study approach. Data were collected by observation and chart audit from 186 patients diagnosed with Irukandji syndrome between 2001-2007. Of the 186 patients, 44.1% were local residents and 58.6% were men. Median age of the patients was 27 years (range 16-77). There was a time trend with a greater number of stings occurring out at the Great Barrier Reef than at mainland beaches (p swim in marine sting environments and fail to make use of available protective clothing such as body suits. Local residents continue to be stung regardless of the educational information available suggesting a review of the current public education campaign is required. Nurses failed to document assessment processes limiting adequately the ability to assess trends in the patient's condition effectively and treat symptoms efficiently. It is, therefore, timely to review the critical role that assessment plays in clinical care.

  9. Proteus syndrome: a rare cause of hemihypertrophy and macrodactyly on bone scanning

    NARCIS (Netherlands)

    Joshi, U.; van der Sluijs, J.A.; Teule, G.J.; Pijpers, R.

    2005-01-01

    Proteus syndrome is a rare, sporadic genetic disorder characterized by overgrowth of multiple different tissues in a mosaic pattern. It is associated with connective tissue nevi, epidermal nevi, disproportionate overgrowth of multiple tissues, vascular malformations, characteristic tumors, and

  10. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.

    NARCIS (Netherlands)

    Reeuwijk, J. van; Janssen, M.; Elzen, C. van der; Beltran Valero de Bernabe, D.; Sabatelli, P.; Merlini, L.; Boon, M.; Scheffer, H.; Brockington, M.; Muntoni, F.; Huynen, M.A.; Verrips, A.; Walsh, C.A.; Barth, P.G.; Brunner, H.G.; Bokhoven, J.H.L.M. van

    2005-01-01

    BACKGROUND: Walker-Warburg syndrome (WWS) is an autosomal recessive condition characterised by congenital muscular dystrophy, structural brain defects, and eye malformations. Typical brain abnormalities are hydrocephalus, lissencephaly, agenesis of the corpus callosum, fusion of the hemispheres,

  11. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

    NARCIS (Netherlands)

    van Reeuwijk, J.; Janssen, M.; van den Elzen, C.; Beltran-Valero de Bernabé, D.; Sabatelli, P.; Merlini, L.; Boon, M.; Scheffer, H.; Brockington, M.; Muntoni, F.; Huynen, M. A.; Verrips, A.; Walsh, C. A.; Barth, P. G.; Brunner, H. G.; van Bokhoven, H.

    2005-01-01

    Walker-Warburg syndrome (WWS) is an autosomal recessive condition characterised by congenital muscular dystrophy, structural brain defects, and eye malformations. Typical brain abnormalities are hydrocephalus, lissencephaly, agenesis of the corpus callosum, fusion of the hemispheres, cerebellar

  12. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

    NARCIS (Netherlands)

    van Reeuwijk, J; Janssen, M; van den Elzen, C; de Bernabe, DBV; Sabatelli, P; Merlini, L; Boon, M; Scheffer, H; Brockington, M; Muntoni, F; Huynen, MA; Verrips, A; Walsh, CA; Barth, PG; Brunner, HG; van Bokhoven, H

    2005-01-01

    Background: Walker-Warburg syndrome (WWS) is an autosomal recessive condition characterised by congenital muscular dystrophy, structural brain defects, and eye malformations. Typical brain abnormalities are hydrocephalus, lissencephaly, agenesis of the corpus callosum, fusion of the hemispheres,

  13. Symmetrical corticobasal syndrome caused by a novel c.314dup progranulin mutation

    NARCIS (Netherlands)

    E.G.P. Dopper (Elise); H. Seelaar (Harro); W.Z. Chiu (Wang Zheng); I. de Koning (Inge); R. van Minkelen (Rick); M.C. Baker (Matthew); A.J.M. Rozemuller (Annemieke); R. Rademakers (Rosa); J.C. van Swieten (John)

    2011-01-01

    textabstractCorticobasal syndrome (CBS) is characterised by asymmetrical parkinsonism and cognitive impairment. The underlying pathology varies between corticobasal degeneration, progressive supranuclear palsy, Alzheimer's disease, Creutzfeldt-Jakob disease and frontotemporal lobar degeneration

  14. Sleep disorders frequency in post-polio syndrome patients caused by periodic limb movements

    National Research Council Canada - National Science Library

    Araujo, Maria Auxiliadora de Paiva; Silva, Tatiana Mesquita e; Moreira, Gustavo Antonio; Pradella-Hallinan, Márcia; Tufik, Sergio; Oliveira, Acary Souza Bulle

    2010-01-01

    Post-polio syndrome (PPS) in individuals with polio longer than 15 years is characterized by weakness and/or muscle fatigue, deficit of deglutition and breath and periodic limb movements (PLM) during sleep...

  15. Case Report: A Toddler With Anasarca Caused by Congenital Nephrotic Syndrome.

    Science.gov (United States)

    Satekge, Tumelo M; Kiabilua, Olivia; van Biljon, Gertruida; Pillay, Komala; Pillay, Tahir S

    2017-05-01

    Congenital nephrotic syndrome is a rare inherited disorder arising from defects in the proteins of the cells in the glomerular basement membrane and develops either in utero or at birth. The clinical presentation is the result of massive protein loss in the urine with associated compensatory mechanisms. Here we present a clinical case of a female toddler with a history of anasarca (severe generalised edema) from birth and who presents with the classical biochemical laboratory findings of nephrotic syndrome, together with the more pronounced features that arise from protein loss including abnormal thyroid function testing and a marked hypercholesterolaemia. Renal biopsy indicated congenital nephrotic syndrome of the Finnish type. This clinical-diagnostic case report represents an example of the broad spectrum of pathophysiological findings of a severe congenital nephrotic syndrome.

  16. Bladder hamartoma: a unique cause of urinary retention in a child with Goldenhar syndrome.

    Science.gov (United States)

    Adam, Ahmed; Gayaparsad, Keshree; Engelbrecht, Matthys J; Moshokoa, Evelyn M

    2013-01-01

    The bladder hamartoma is an extremely rare entity. We report on its presence in a 5-year-old boy with Goldenhar syndrome. Most probably, this is the first report of a bladder hamartoma presenting with obstruction of the bladder outlet resulting in urinary retention. The obstructive lesion was resected endoscopically. This proved to be curative for the lesion, since the follow-up voiding cysto-urethrogram revealed only a negligible post-void residual volume. Although urogenital anomalies have a well-known correlation with the Goldenhar syndrome, the existence of the bladder hamartoma found in association with this syndrome, according to the best of our knowledge, has not been previously reported in the world literature. With this report being only the 11 th described case of bladder hamartoma, we highlight on the management options for this exceptional histological finding. The incidence, screening, treatment decisions and important urogenital associations of the Goldenhar syndrome are also discussed.

  17. Bladder hamartoma: A unique cause of urinary retention in a child with goldenhar syndrome

    Directory of Open Access Journals (Sweden)

    Ahmed Adam

    2013-01-01

    Full Text Available The bladder hamartoma is an extremely rare entity. We report on its presence in a 5-year-old boy with Goldenhar syndrome. Most probably, this is the first report of a bladder hamartoma presenting with obstruction of the bladder outlet resulting in urinary retention. The obstructive lesion was resected endoscopically. This proved to be curative for the lesion, since the follow-up voiding cysto-urethrogram revealed only a negligible post-void residual volume. Although urogenital anomalies have a well-known correlation with the Goldenhar syndrome, the existence of the bladder hamartoma found in association with this syndrome, according to the best of our knowledge, has not been previously reported in the world literature. With this report being only the 11 th described case of bladder hamartoma, we highlight on the management options for this exceptional histological finding. The incidence, screening, treatment decisions and important urogenital associations of the Goldenhar syndrome are also discussed.

  18. Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

    National Research Council Canada - National Science Library

    Bujakowska, K.M; Zhang, Q; Siemiatkowska, A.M; Liu, Q; Place, E; Falk, M.J; Consugar, M; Lancelot, M.E; Antonio, A; Lonjou, C; Carpentier, W; Mohand-Said, S; Hollander, A.I. den; Cremers, F.P.M; Leroy, B.P; Gai, X; Sahel, J.A; Born, L.I. van den; Collin, R.W.J; Zeitz, C; Audo, I; Pierce, E.A

    2015-01-01

    ...)] that underlie an isolated retinal degeneration and Bardet-Biedl syndrome. Extensive functional analyses of the identified mutations in cell culture, rat retina and in zebrafish demonstrated their hypomorphic or null nature...

  19. Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.

    NARCIS (Netherlands)

    Frank, V.; Hollander, A.I. den; Bruchle, N.O.; Zonneveld, M.N.; Nurnberg, G.; Becker, C.; Bois, G. Du; Kendziorra, H.; Roosing, S.; Senderek, J.; Nurnberg, P.; Cremers, F.P.M.; Zerres, K.; Bergmann, C.

    2008-01-01

    Meckel-Gruber syndrome (MKS) is an autosomal recessive, lethal multisystemic disorder characterized by meningooccipital encephalocele, cystic kidney dysplasia, hepatobiliary ductal plate malformation, and postaxial polydactyly. Recently, genes for MKS1 and MKS3 were identified, putting MKS on the

  20. Mutations in the PCNA-binding domain of CDKN1C cause IMAGE Syndrome

    OpenAIRE

    Arboleda, VA; Lee, H.; Parnaik, R; Fleming, A.; Banerjee, A; Ferraz-De-Souza, B; Délot, EC; Rodriguez-Fernandez, IA; Braslavsky, D; Bergadá, I; Dell'Angelica, EC; Nelson, SF; Martinez-Agosto, JA; Achermann, JC; Vilain, E

    2012-01-01

    IMAGe syndrome (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital anomalies) is an undergrowth developmental disorder with life-threatening consequences. An identity-by-descent analysis in a family with IMAGe syndrome identified a 17.2-Mb locus on chromosome 11p15 that segregated in the affected family members. Targeted exon array capture of the disease locus, followed by high-throughput genomic sequencing and validation by dideoxy sequencing, id...