WorldWideScience

Sample records for budd-chiari syndrome caused

  1. Imaging of Budd-Chiari syndrome

    International Nuclear Information System (INIS)

    Buckley, O.; O' Brien, J.; Snow, A.; Stunell, H.; Torreggiani, W.C.; Lyburn, I.; Munk, P.L.

    2007-01-01

    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.)

  2. Imaging of Budd-Chiari syndrome

    Energy Technology Data Exchange (ETDEWEB)

    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 secondary to toxic pyrrolizidine alkaloid exposure.

    Science.gov (United States)

    Wu, Janet S W; Poon, W T; Ma, C K; Chen, M L; Pang, K S; Mak, Tony W L; Chan, H B

    2013-12-01

    In this report, we describe a case of pyrrolizidine alkaloid-related Budd-Chiari syndrome in Hong Kong. A 10-month-old boy presented with ascites, right pleural effusion, and hepatomegaly after consumption of herbal drinks for 3 months. His clinical (including imaging) features were compatible with Budd-Chiari syndrome. Budd-Chiari syndrome is a rare disease entity in paediatric patients. In our case, extensive workup performed to look for the underlying cause of Budd-Chiari syndrome was unrevealing, except for toxic pyrrolizidine alkaloid exposure in his herbal drinks.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    International Nuclear Information System (INIS)

    Song, Jae Min; Yoon, Jung Won; Kim, Jae Wook; Chung, Woo Kyoung; Chung, Hee Sun; Kim, Joo Hyung; Choi, Jun Ho; Kim, Seung Ho

    2007-01-01

    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

  6. Retroperitoneal myxoid liposarcoma of the renal capsule causing Budd-Chiari syndrome

    International Nuclear Information System (INIS)

    Gruetzner, G.; Fuerst, G.; Kuhn, F.P.; Kliche, K.O.

    1991-01-01

    A retroperitoneal myxoid liposarcoma of the renal capsule must be differentiated from renal cell carcinomas, angiomyolipomas, fibrogenous lipomas, fibrolipomas and mixed tumours containing fat tissue. Myxoid liposarcomas can lead to intracavale tumourthromboses, which is often the case with renal cell carcinomas and revealed clinical with Budd-Chiari syndrome. Computed tomography and magnetic resonance imaging give additional information in the diagnosis of intracaval tumourthromboses and show the exact expansion of the topographic-anatomical structure. (orig.) [de

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

    Directory of Open Access Journals (Sweden)

    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.

  8. Etiology, management, and outcome of the Budd-Chiari syndrome

    NARCIS (Netherlands)

    S. Darwish Murad (Sarwa); A. Plessier (Aurelie); M. Hernandez-Guerra (Manuel); F. Fabris (Federica Margherita); C.E. Eapen (Chundamannil Eapen); M.J. Bahr (Matthias); J. Trebicka (Jonel); I. Morard (Isabelle); L. Lasser (Luc); J. Heller (Jörg); A. Hadengue (Antoine); P. Langlet (Philippe); H. Miranda (Helena); M. Primignani (Massimo); E. Elias (Elwyn); F.W.G. Leebeek (Frank); F.R. Rosendaal (Frits); J.C. Garcia-Pagan (Juan Carlos); D.C. Valla (Dominique Charle); H.L.A. Janssen (Harry)

    2009-01-01

    textabstractBackground: The Budd-Chiari syndrome (BCS) is hepatic venous outflow obstruction. What is known about the syndrome is based on small studies of prevalent cases. Objective: To characterize the causes and treatment of incident BCS. Design: Consecutive case series of patients with incident

  9. Budd-Chiari syndrome complicating hydatid liver disease

    International Nuclear Information System (INIS)

    Robotti, G.C.; Meister, F.; Schroeder, R.; Bern Univ.; Bern Univ.

    1985-01-01

    In two female patients a diagnosis of Budd-Chiari syndrome secondary to hepatic echinococcosis was established by CT. One patient developed acute Budd-Chiari syndrome secondary to E. granulosus lesions of the liver. The second patient presented with a picture of chronic Budd-Chiari syndrome secondary to alveolar echinococcosis. CT findings of Budd-Chiari syndrome included ascites, low density areas in the liver parenchyma, hypertrophy of the caudate lobe, non visualisation of the hepatic veins, occlusion of the retrohepatic inferior vena cava and enlarged retroperitoneal veins. (orig.) [de

  10. Acute trauma-induced Budd-Chiari syndrome

    International Nuclear Information System (INIS)

    Izard, G.; Houri, R.; Randrianasolo, S.; Gailleton, R.

    1995-01-01

    The diagnosis of Budd-Chiari syndrome is based on clinical signs including liver enlargement and ascites and findings of complementary examinations: echography, echo-Doppler, cat scanning (CT-scan), magnetic resonance imaging, angiography, pressure readings, laparoscopy and biopsy. Trauma is rarely reported as a cause of acute Budd-Chiari syndrome. In some cases, the trauma is so violent the supra-hepatic veins are ruptured and the dramatic outcome leaves no time for the syndrome to develop. In others, the resulting haematomas form a compression block of the supra hepatic vessels. The mechanism of the trauma in our case appears to have been unreported to date. Four days after a violent motorcycle accident, a 33-year-old man developed an acute Budd-Chiari syndrome probably due to partial and temporary thrombosis of the left and middle supra hepatic veins. A side-to-side porto-cava anastomosis with a calibrated venous graft was performed in an emergency procedure. Outcome was quite favourable and after a 4 year follow-up, the patient is in good health. (authors). 13 refs

  11. Radiation-induced liver injury showing low intensity on T2-weighted images noted in Budd-Chiari syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Mori, Harushi [Tokyo Univ. (Japan). Graduate School of Medicine; Yoshioka, Hiroshi; Saida, Yukihisa; Itai, Yuji [Tsukuba Univ., Ibaraki (Japan). Inst. of Clinical Medicine; Mori, Kensaku [Tsukuba Univ., Ibaraki (Japan). Hospital; Ahmadi, T. [Shahid Beheshti Univ. of Medical Sciences, Teheran (Iran, Islamic Republic of); Okumura, Toshiyuki [Ibaraki Prefectural Central Hospital, Tomobe (Japan)

    2002-04-01

    Although it is documented that radiation can cause density or intensity changes on computed tomography or MR imaging in the irradiated hepatic parenchyma, few researchers have reported or understood the MR presentation of changes in hepatic parenchyma following radiotherapy in the patient with Budd-Chiari syndrome. The purpose of this study was to investigate the MR appearance of hepatic radiation injury in Budd-Chiari syndrome and to consider the underlying pathophysiology. The MR examinations of two patients with Budd-Chiari syndrome was compared with those of 11 patients without Budd-Chiari syndrome. The two groups, both of which suffered from hepatocellular carcinoma, underwent 50-72 Gy of proton-beam irradiation during a period of 14-43 days. Examinations including T1- and T2-weighted imaging, superparamagnetic iron oxide-enhanced imaging, and dynamic study were performed 3-10 weeks after the end of irradiation. Radiation-induced hepatic injury was observed as a low-intensity area on T2-weighted images and on delayed phase images of dynamic study in the Budd-Chiari patients, and as iso- or high-intensity areas on both images in the patients without Budd-Chiari syndrome. US-guided needle biopsy from the irradiated area in one patient with Budd-Chiari syndrome revealed mostly necrotic tissue and fibrous tissue. These MR features of hepatic radiation injury in Budd-Chiari syndrome were considered to be due to severe hepatic fibrosis. (author)

  12. Budd-Chiari syndrome and liver transplantation

    Science.gov (United States)

    Akamatsu, Nobuhisa; Sugawara, Yasuhiko; Kokudo, Norihiro

    2015-01-01

    Summary Budd-Chiari syndrome involves obstruction of hepatic venous outflow tracts at various levels from small hepatic veins to the inferior vena cava and is the result of thrombosis or its fibrous sequelae. There is a conspicuous difference in its etiology in the West and the East. Myeloproliferative disease predominates in the West and obstruction of the vena cava predominates in the East. The clinical presentation and clinical manifestations are so varied that it should be suspected in any patient with acute or chronic liver dysfunction. It should be treated with step-wise management. First-line therapy should be anticoagulation with medical treatment of the underlying illness, and interventional revascularization and TIPS are indicated in the event of a lack of response to medical therapy. Liver transplantation may be indicated as a rescue treatment or for fulminant cases with promising results. This step-by-step strategy has achieved a 5-year transplant-free survival rate of 70% and a 5-year overall survival rate of 90%. Living donor liver transplantation can also be used for patients with Budd-Chiari syndrome if deceased donor livers are scarce, but it requires a difficult procedure particularly with regard to venous outflow reconstruction. PMID:25674385

  13. [Association Budd Chiari syndrome, antiphospholipid syndrome and Grave's disease].

    Science.gov (United States)

    Mouelhi, Leila; Chaieb, Mouna; Debbeche, Radhouane; Salem, Mohamed; Sfar, Imene; Trabelsi, Sinda; Gorgi, Yosr; Najjar, Taoufik

    2009-02-01

    Antiphospholipid syndrome is revealed by Budd Chiari syndrome in 5% of the cases. Antiphospholipid syndrome is characterized by venous or arterial thrombosis, foetal loss and positivity of antiphospholipid antibodies, namely lupus anticoagulant, anticardiolipin antibodies and anti-beta2-glycoprotein I. Anticardiolipin antibodies was reported in auto-immune thyroid disorders, particularly in Grave's disease. Antiphospholipid syndrome associated to Grave's disease was reported in only three cases. To describe a case report of association of Grave's disease and antiphospholipid syndrome. We report the first case of Grave's disease associated with antiphospholipid syndrome, revealed by Budd Chiari syndrome. Our observation is particular by the fact that it is about a patient presenting a Grave's disease associated with antiphospholipid syndrome revealed by Budd Chiari syndrome. This triple association has never been reported in literature. Although association between antiphospholipid syndrome and Grave's disease was previously described, further studies evaluating the coexistence of these two affections in the same patient would be useful.

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

    Directory of Open Access Journals (Sweden)

    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.

  15. Budd-Chiari syndrome: CT and MRI findings

    International Nuclear Information System (INIS)

    Xu Kai; Li Lingsun

    2008-01-01

    Budd-Chiari syndrome is an uncommon but often fatal disorder resulting from obstruction of hepatic venous outflow tract at the level of the hepatic veins, the inferior vena cava. The CT and MRI characteristics of Budd-Chiari syndrome are reviewed in this article especially for displaying the exact site and extent of the obstruction. In addition to this direct sign, the indirect findings of venous obstruction such as the presence of intra-and extrahepatic collateral veins, caudate lobe enlargement, inhomogeneous liver enhancement, and regenerative nodules can also be demonstrated. Awareness of these findings is important for early diagnosis and appropriate treatment. (authors)

  16. Stent Angioplasty of Closed Mesocaval Shunt in a Patient with Budd-Chiari Syndrome

    International Nuclear Information System (INIS)

    Sancak, Tanzer; Karagulle, Ayse Tuba; Bilgic, Sadik; Sanlidilek, Umman; Yerdel, Mehmet Ali

    2002-01-01

    Budd-Chiari syndrome (BCS) is an uncommon disorder caused by hepatic venous outflow obstruction. It is characterized by ascites, hepatomegaly and abdominal pain. Percutaneous intervention shave recently been used for the treatment of BCS. We present a case of BCS with a closed mesocaval shunt which was reopened with a self-expandable metallic stent

  17. Diagnosis and therapy of Budd-Chiari syndrome

    International Nuclear Information System (INIS)

    Bachmann, R.; Strunk, H.; Hofer, U.; Schild, H.; Brensing, K.A.

    1998-01-01

    Purpose: Budd-Chiari syndrome is a fairly uncommon disease in Europe. This often leads to its late diagnosis. The syndrome is characterised by portal hypertension and splanchnic congestion due to obstruction of hepatic venous outflow. This paper describes the treatment of three patients with Budd-Chiari syndrome by interventional therapeutic techniques and discusses alternative treatment modalities. Patients and Methods: The first patient presented with veno-occlusive disease and was treated by the placement of a transjugular intrahepatic portosystemic stentshunt. The second patient showed an occlusion of the major hepatic veins. After percutaneous recanalisation, a stent was placed in the right hepatic vein which remained patent. The third patient had a membranous obstruction of the right hepatic vein which was treated by percutaneous balloon dilatation. Results: In all patients the clinical symptoms resolved completely after treatment and no complications were encountered. Conclusions: The authors conclude that interventional therapeutic techniques offer a wide variety of possibilities for the treatment of patients with Budd-Chiari syndrome and are safe, effective and relatively inexpensive. However, further studies are required to assess the long-term results and survival rates of these patients. (orig.) [de

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

    African Journals Online (AJOL)

    It is believed that in this patient, Budd Chiari Syndrome resulted from hepatic veinous thrombosis due to the presence of Lupus anticoagulants. As the young girl was suffering from antiphospholipid syndrome secondary to lupus, this milder form of Budd-Chiari Syndrome was later treated in India with surgical shunts.

  19. [The usefullness of percutaneous transluminal balloon angioplasty in the management of budd-Chiari syndrome].

    Science.gov (United States)

    Kim, Se Hwan; Yu, Kyung Sool; Baek, Seung Min; Lee, Seung Yup; Kim, Hyun Su; Tak, Won Young; Kweon, Young Oh; Kim, Sung Kook; Choi, Yong Hwan; Chung, Joon Mo

    2002-06-01

    Membranous obstruction is the most common cause of Budd-Chiari syndrome in Orientals. Recently, percutaneous transluminal balloon angioplasty (PTBA) has been successfully applied as a treatment of membranous obstruction. We evaluated etiologies and clinical manifestations in our cases and the usefulness of PTBA. Twelve cases of Budd-Chiari syndrome were analyzed. 50.3 years was the average age of the cases (ranging from 37 to 67 years). Major symptoms or signs were superficial collateral vessels on the chest or the abdomen in 6 cases, ascites in 3, abdominal pain in 4, hepatomegaly in 4, splenomegaly in 3, melena or hematemesis in 2, and leg edema in 2. Upper gastrointestinal endoscopy showed esophageal varices in 6 cases and two of these 6 cases had gastric varices. Of 8 cases with liver cirrhosis, 4 were classified as Child-Pugh class A and 4 as B. Four patients with cirrhosis had concurrent hepatocellular carcinoma including 1 patient who was HBs Ag positive. Etiologies were membranous obstruction in 11 cases and protein C deficiency in 1 case. The main site of obstruction was IVC in 8 and hepatic vein in 4. PTBA was successfully performed in 8 cases of membranous obstruction. During the mean follow-up period of 27.6 months (12-40 months), there were no reobstructions except in 2 cases. The most common cause of Budd-Chiari syndrome in our cases was membranous obstruction of IVC. Percutaneous transluminal balloon angioplasty is a very useful treatment method.

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

    International Nuclear Information System (INIS)

    Copelan, Alexander; Remer, Erick M.; Sands, Mark; Nghiem, Hanh; Kapoor, Baljendra

    2015-01-01

    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

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

    Energy Technology Data Exchange (ETDEWEB)

    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.

  2. Primary Budd-Chiari syndrome - a single center experience.

    Science.gov (United States)

    Raszeja-Wyszomirska, Joanna; Mieżyńska-Kurtycz, Joanna; Marlicz, Wojciech; Lawniczak, Małgorzata; Wójcicki, Maciej

    2012-09-01

    Budd-Chiari syndrome (BCS) is recognized as a clinical manifestation of various prothrombotic conditions which may be lethal within 3 years of the onset of symptoms if untreated. This study is a retrospective analysis of patients with BCS managed between 2004 and 2011. The diagnosis was confirmed with contrast CT-angiography and/or Doppler ultrasound. BCS was diagnosed in 20 patients (11 females and 9 males), median age 38 years (ranging from 18 to 56). Twelve patients were referred as acute BCS for the liver transplant (LTx) assessment. Thrombosis of the hepatic veins was caused by myeloproliferative disorders (n=8), end-stage liver disease (n=4), protein C deficiency (n=3), paroxysmal nocturnal hemoglobinuria (PNH) (n=1), antiphospholipid syndrome (n=1) and secondary poliglobulia (n=1). In two patients the origin of BCS could not be established despite appropriate screening. Median follow-up was 29 months. Low molecular heparin with subsequent conversion to vitamin K antagonists was routinely applied in all patients. Two patients underwent TIPS procedure with good long term outcome and 10 subjects received LTx; 1 patient was lost to follow-up and 1 died of chest infection 9 years since the diagnosis of BCS was made; 14 patients, including those who received LTx, were alive and well at least one year after BCS diagnosis. All survivors remain stable and are followed-up on a regular basis. Strict adherence to the diagnostic and therapeutic guidelines plays a crucial role in the management of BCS patients. Our results confirm the efficacy of anticoagulation as well as TIPS and/or OLT in treatment of this rare condition.

  3. Clinical evaluation of interventional treatment for Budd-Chiari syndrome

    International Nuclear Information System (INIS)

    Zhong Hongshan; Xu Ke; Xiao Liang

    2009-01-01

    Objective: To evaluate the interventional treatment of Budd-Chiari syndrome (BCS) with regard to different types of the disease. Methods: One hundred and fifty-nine consecutive cases with BCS underwent interventional treatments with regard to different types of the diseases, including percutaneous angioplasty (PTA), transcatheter thrombolysis, endovascular stent implantation and modified transjugular intrahepatic portosystemic shunt (MTIPS). Among them, 147 cases that underwent complete follow-up were enrolled in this study. Simple obstruction of HV, membranous obstruction of IVC, membranous obstruction of IVC combined with thrombosis in the distal lumen and segmental obstruction of IVC constituted 13.6% (20), 66.0% (97), 6.1% (9)and 14.3% (21/147), respectively. The technical success rate of each type was determined. They were followed up for (67.3±9.0) months (16 h-104 months). Overall primary patency rate was evaluated. The late effect on liver function was analyzed according to the Child-Pugh score. Results: The primary patency rate of PTA was 65.6% (86/131) and the secondary, patency rate was 96.9% (124/128). The primary patency rate of stent implantation was 78.9% (15/19) and the secondary patency rate was 92.3% (24/26). One patient of type IIIa that received recanalization, catheter-directed thrombolysis and PTA in IVC died of hemoptysis 72 h after the procedure. One patients of type I b who received MTIPS died of DIC 16 hrs after the procedure. And one patient of type Ib who received MTIPS died of liver failure 13 months after the procedure. Twelve patients died in 7-79 months after the interventional procedure due to unrelated causes. At the end of follow-up, the liver function of the patients was improved. Conclusions: Optimal application of various vascular interventional techniques has a satisfactory primary and secondary patency rate and improves the long-term liver function. (authors)

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

    Directory of Open Access Journals (Sweden)

    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.

  5. Budd-chiari syndrome by membranous obstruction of inferior vena cava: comparison of sonography and computed tomography

    International Nuclear Information System (INIS)

    Lee, Dong Ho; Lim, Jae Hoon; Ko, Young Tae; Yoon, Yup; Lim, Joo Won

    1992-01-01

    Membranous obstruction of the hepatic inferior vena cava (MOVC) is one of the common causes of Budd-Chiari syndrome. The aim of this study is to ascertain and compare the characteristic sonographic and CT findings of Budd-Chiari syndrome caused by MOVC. We studied 10 patients of Budd-Chiari syndrome caused by MOVC thorough sonography and CT. MOVC was confirmed by operation and/or inferior vena cavography. The cases included 9 men and one woman. With sonography, IVC obstruction was diagnosed in 9 cases. The cause of IVC obstruction was web in 5 cases and fibrous cord in 3 cases. The cause was unspecified in one case. Obliteration of the hepatic veins and intrahepatic collateral vessels were delineated in 9 cases. With color doppler sonography, the directions of blood flow of the hepatic veins through the intervenous communication were fairly well demonstrated in all 5 cases. With CT, IVC obstruction was diagnosed in 7 cases. The obliteration of the hepatic segment of the IVC were segmental in 6 cases and diffuse in one case. CT demonstrated communicating vessels between the hepatic veins in 3 cases. Furthermore, systemic collateral vessels (azygos and hemiazygos veins, veins along the abdominal wall, and internal mammary veins) were demonstrated in all cases. Liver cirrhosis was combined in all cases and hepatoma developed in 4 cases. Sonography is useful to detect the MOVC and to demonstrate hepatic venous obstruction and intrahepatic collateral vessels. Color doppler sonography is easily performed to show the direction of the blood flow through interconnecting vessels. CT shows the obliterated segment of the IVC clearly and multiple prominent systemic collaterals. In conclusion, Budd-Chiari syndrome caused by MOVC is accurately diagnosed by combined color doppler sonography and CT

  6. Disproportionate rise in serum CA 125 in case of budd chiari syndrome: an unusual presentation

    OpenAIRE

    Prasad D. Game; Madhuri P. Holay; Satyanarayan Durgam; Sandeep Kharkar

    2015-01-01

    Ca 125 is used as a diagnostic and prognostic biomarker for ovarian cancer. The level of CA 125 is also elevated in benign conditions like Budd Chiari syndrome, liver cirrhosis and heart failure. But very high level of CA 125 is rarely associated with benign conditions and this can mislead the physician. Here we present a case of budd chiari syndrome in postpartum period associated with very high level of CA 125 which is an unusual presentation. [Int J Res Med Sci 2015; 3(8.000): 2129-2131

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

    NARCIS (Netherlands)

    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

  8. 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 ...

  9. Pericardial tamponade complicated by interventional management for Budd-Chiari syndrome: clinical analysis and treatment

    International Nuclear Information System (INIS)

    Zhang Luxi; Zu Maoheng; Wu Jinping; Xu Hao; Jiao Xudong; Chen Zhengkan

    2011-01-01

    Objective: To discuss the cases and treatment of pericardial tamponade (PT) occurred in the interventional management for Budd-Chiari syndrome (BCS). Methods: During the period from 1990 to 2006, interventional treatment was performed in 812 patients with BCS. Pericardial tamponade occurred in nine patients during the period of interventional treatment. The clinical data, including angiographic findings, clinical symptoms, management and outcomes, of the nine patients were retrospectively analyzed. The possible causes of pericardial tamponade were discussed. Results: Of the nine patients occurring pericardial tamponade, successful treatment was obtained in eight and death occurred in one. The lesions of BCS in the nine cases included inferior vena cava obstruction type (n=7), hepatic venous obstruction type (n=1) and mixed type (n=1). Pericardial tamponade was caused by mistakenly puncturing into pericardium (n=5), mistakenly puncturing together with laceration of pericardium by balloon (n=3), and breaking of pericardium by displaced stent (n=1). Conventional pericardicentesis was employed in one case, surgery was carried out in three cases, and infra-xiphoid catheterization and drainage using Seldinger technique was performed in two cases. Conservative treatment was adopted in one case and aspiration through the wrongly inserted catheter was tried in one case. In the remaining one case, aspiration through the wrongly inserted catheter together with infra-xiphoid catheterization and drainage by using Seldinger technique was carried out. Conclusion: The pericardial tamponade is an severe complication occurred in the interventional management for Budd-Chiari syndrome, although it is rarely seen. Preoperative prevention, prompt detection and rational treatment are the keys avoid serious consequences. (authors)

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

    Directory of Open Access Journals (Sweden)

    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

  11. The budd-Chiari syndrome in a child: a case report and review of the literature.

    Science.gov (United States)

    Misra, Vatsala; Verma, Kachnar; Singh, Dharmendra Kumar; Misra, Sri Prakash

    2012-12-01

    The Budd-Chiari Syndrome is associated with hepatic venous outflow obstruction. This syndrome is rare in infants and children. As this syndrome is uncommon, especially in the paediatric age group, misdiagnoses and delays in the diagnosis are frequent. A high index of clinical suspicion along with a radiological aid and a histopathological correlation can lead to an early diagnosis and an appropriate management in such cases.This case report highlights the occurrence of this rare condition in the paediatric age group as well as it redefines the salient features of this syndrome.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1988-03-15

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

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

    International Nuclear Information System (INIS)

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

    1988-01-01

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

  14. Long-Term Follow-Up After Successful Transjugular Intrahepatic Portosystemic Shunt Placement in a Pediatric Patient with Budd-Chiari Syndrome

    International Nuclear Information System (INIS)

    Carnevale, Francisco Cesar; Szejnfeld, Denis; Moreira, Airton Mota; Gibelli, Nelson; Gregorio, Miguel Angel De; Tannuri, Uenis; Cerri, Giovanni Guido

    2008-01-01

    Orthotopic liver transplantation is the standard of care in patients with Budd-Chiari syndrome (BCS), and transjugular intrahepatic portosystemic shunt (TIPS) has become an important adjunct procedure while the patient is waiting for a liver. No long-term follow up of TIPS in BCS patients has been published in children. We report successful 10-year follow-up of a child with BCS and iatrogenic TIPS dysfunction caused by oral contraceptive use.

  15. Functional Budd-Chiari Syndrome Associated With Severe Polycystic Liver Disease

    Directory of Open Access Journals (Sweden)

    Precil Diego Miranda de Menezes Neves

    2017-06-01

    Full Text Available A 50-year-old woman with end-stage renal disease secondary to autosomal dominant polycystic kidney disease was referred to a quaternary care center due to significantly increased abdominal girth. Her physical examination revealed tense ascites and abdominal collateral veins. A 10-L paracentesis improved abdominal discomfort and disclosed a transudate, suggestive of portal hypertension. A computed tomographic scan revealed massive hepatomegaly caused by multiple cysts of variable sizes, distributed throughout all hepatic segments. Contrast-enhanced imaging uncovered extrinsic compression of hepatic and portal veins, resulting in functional Budd-Chiari syndrome and portal hypertension. Although image-guided drainage followed by sclerosis of dominant cysts could potentially lead to alleviation of the extrinsic compression, the associated significant risk of cyst hemorrhage and infection precluded this procedure. In this scenario, the decision was to submit the patient to a liver-kidney transplantation. After 1 year of this procedure, the patient maintains normal liver and kidney function and refers significant improvement in quality of life.

  16. Analysis of the complications in interventional treatment for Budd-Chiari syndrome

    International Nuclear Information System (INIS)

    Niu Zhike; Lv Guanghua; Du Fei; Guo Yanxia; Guan Lan

    2010-01-01

    Objective: To discuss the causes and the prevention measures of the complications occurred after interventional therapy for different type of Budd-Chiari syndrome (BCS). Methods: Based on the type of BCS, the corresponding interventional management was adopted in 204 patients with BCS. The interventional procedures included PTA and stent placement of inferior vena cava (IVC), percutaneous transhepatic recanalization and dilation (PTRD) of hepatic vein, percutaneous trans jugular or trans inferior vena cava recanalization, dilation and stent placement of hepatic vein and trans jugular intrahepatic portal-systemic stenting shunt (TIPSS). Results: The successful rate of interventional therapy was 95.5% (21 / 22) for type Ia, 81.8% (9/11) for type Ib, 97.3% (109/112) for type IIa, 92.9% (13/14) for type IIb, 88.9% (8/9) for type IIIa, 100% (2/2) type IIIb, 92% (23/25) for type IVa and 88.9% (8/9) for type IVb BCS. The main complications occurred during or after the operation included acute cardiac insufficiency (n=2), pulmonary arterial embolization (n=4), disseminated intravascular coagulation (n=1), extravasation of contrast medium (n=3), arrhythmia (n=2), and cardiac tamponade (n=1). Conclusion: Interventional therapy is simple, safe and effective for the treatment of BCS, but its indications should be strictly considered and all kinds of effective prevention measures should be taken to avoid or to reduce the possible complications. (authors)

  17. Liver transplantation in a patient with primary antiphospholipid syndrome and Budd-Chiari syndrome

    Science.gov (United States)

    Reshetnyak, Tatiana M; Seredavkina, Natalia V; Satybaldyeva, Maria A; Nasonov, Evgeniy L; Reshetnyak, Vasiliy I

    2015-01-01

    The antiphospholipid syndrome (APS) is an acquired thrombophilic disorder in which autoantibodies are produced to a variety of phospholipids determinants of cell membranes or phospholipid binding proteins. There are few reports about association between antiphospholipid antibodies and development of Budd-Chiari syndrome (BCS). We report the case of BCS development in young Russian male with primary APS. The patient underwent orthotopic liver transplantation on August 26, 2012. At present time his state is good, the blood flow in the liver restored and its function is not impaired. We report about the first time the successful use of dabigatran etexilate for prolonged anticoagulation therapy in APS patient with BCS. In addition patient is managed with immunosuppressive drugs. PMID:26380049

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

    DEFF Research Database (Denmark)

    Holland-Fischer, Peter

    2004-01-01

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

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

    International Nuclear Information System (INIS)

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

    1985-01-01

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

  20. Introducing chinese treatment experience of Budd-Chiari syndrome to world wide

    International Nuclear Information System (INIS)

    Li Linsun

    2008-01-01

    During the latest 20 years, the crucial progress has been made in the field of treatment for Budd-Chiari syndrome (BCS)in China with therapeutic methods transferring from surgical to interventional and achieving successful rate of 96%. Our unique contribution to the BCS interventional therapy should have made ourselves proud for being as a superior world position on account of large number of cases, abundant therapeutic contents and consummate skills. What a pity is that our achievement was not appreciated by international colleagues because of only a few papers published in SCI journals. So that, Chinese scholars ought to have doing more necessarily through diligently learning English, doing long term follow-up and performing more basic researches and actively joining international academic exchanges, let our good experiences of treatment for BCS be introduced to the world-wide. (authors)

  1. Percutaneous Transjugular Direct Porto-caval Shunt in Patients with Budd-Chiari Syndrome

    International Nuclear Information System (INIS)

    Quateen, A.; Pech, M.; Berg, T.; Bergk, A.; Podrabsky, P.; Felix, R.; Ricke, J.

    2006-01-01

    The purpose of the study was to evaluate the feasibility and effectiveness of direct porto-caval shunts in patients with Budd-Chiari syndrome (BCS) in whom there is no access to the hepatic veins during transjugular intrahepatic portosystemic shunt (TIPSS). We included six consecutive patients with fulminant/acute Budd-Chiari syndrome (mean age: 35 years) in whom a conventional TIPSS was not possible due to inaccessible hepatic veins. We performed a direct porto-caval shunt via a transhepatic approach. Patients were followed up by means of clinical examination, laboratory investigations, and Doppler ultrasound. TIPSS implantation from the inferior vena cava (IVC) was successful in all six patients (100%). The median transhepatic shunt length was 9 cm (8-10 cm). No procedure-related complications were observed in our patients. Early shunt occlusion occurred in three out of six patients (50%). In all three of these patients, the stent used to stabilize the shunt ended 1-2 cm before reaching the IVC. All occlusions were successfully recanalized. One of these patients developed recurrent early shunt as well as mesenteric and splenic vein occlusions. She died 7 days after TIPSS placement due to an unmanageable coagulation disorder. The remaining five patients were followed up by planned clinical examination and laboratory investigations (mean follow-up time was 15 months; patient 1 was followed up for 13 months, patient 2 for 14 months, patient 3 for 15 months, and patients 4 and 5 for 16 months) and all displayed a complete and durable resolution of liver failure and ascites without reintervention. In patients with acute liver failure originating from BCS and inaccessible hepatic veins, a direct transhepatic porto-caval shunt can be performed safely and effectively under ultrasound guidance. Future studies in larger patient groups should investigate if the patency of transcaval TIPSS with long transhepatic shunt segments is similar compared to conventional TIPSS via

  2. Comparative evaluation of ultrasonography, computed tomography and magnetic resonance imaging in the follow-up of Budd-Chiari syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Legmann, P; Levesque, M; De, Broucker F; F,; Hay, J M; Maillard, J N

    1988-01-01

    A comparative evaluation of ultrasonography, computed tomography and MRI in 8 patients operated for Budd-Chiari syndrome is reported. The results obtained, evaluated separately for each technique and then compared between each other and with the data of superior coelio-mesenteric angiography and inferior cavography, show that the MRI data is very clearly superior to the data obtained by ultrasonography and computed tomography. MRI allows simultaneous assessment of the hepatic parenchyma, evaluation of portal hypertension and the porto-caval anastomosis, which are all essential elements in the follow-up Budd-Chiari syndrome. However, in the light of the literature, the authors stress that ultrasonography associated with pulsed Doppler also ensures satisfactory vascular and parenchymal assessment of this disease in the majority of cases.

  3. Comparative evaluation of ultrasonography, computed tomography and magnetic resonance imaging in the follow-up of Budd-Chiari syndrome

    International Nuclear Information System (INIS)

    Legmann, P.; Levesque, M.; Broucker, F. de; Hay, J.M.; Maillard, J.N.

    1989-01-01

    The authors report a comparative evaluation of ultrasonography, computed tomography and MRI in 8 patients operated for Budd-Chiari syndrome. The results obtained, evaluated separately for each technique and then compared between each other and with the data of superior coelio-mesenteric angiography and inferior cavography, showed that MRI data is very clearly superior to the data obtained by ultrasonography and computed tomography. MRI allows simultaneous assessment of the hepatic parenchyma, and evaluation of portal hypertension and the porto-caval anastomosis, which are all essential elements in the follow-up Budd-Chiari syndrome. However, in the light of the literature, the authors stress that ultrasonography associated with pulsed Doppler also ensures satisfactory vascular and parenchymal assessment of this disease in the majority of cases [fr

  4. Angiographic and hemodynamic evaluation of the mesoatrial shunt in patients with Budd-Chiari syndrome and inferior vena caval obstruction

    International Nuclear Information System (INIS)

    Redmond, P.L.; Kadir, S.; Cameron, J.L.; Kaufman, S.L.; White, R.I. Jr.

    1986-01-01

    Obstruction of the inferior vena cava (IVC) is not uncommon in patients with the Budd-Chiari syndrome. The caval obstruction may be due to thrombus or compression by an enlarged caudate lobe. Conventional portosystemic shunts are not possible in the presence of an obstructed IVC; the mesoatrial shunt is indicated in these patients. Between 1973 and 1986, the authors studied 13 patients (ten female, three male) with Budd-Chiari syndrome and IVC obstruction in whom mesoatrial shunts were subsequently constructed. Polycythemia rubra vera was the most common predisposing condition. Preoperative evaluation included US, scintigraphy, CT, and angiography (hepatic arteriography, hepatic venography and pressure measurements, inferior vena cavography, arterial portography). Postoperatively shunts were assessed angiographically and hemodynamically, and several patients underwent CT. The shunts were catheterized via a brachial or femoral venous approach, which allowed pressures along the shunt from the superior mesenteric vein to the right atrium to be measured. The mesoatrial shunt is a relatively new procedure which is indicated in patients with the Budd-Chiari syndrome complicated by IVC obstruction. Shunt patency may be demonstrated arteriographically or with CT, but hemodynamic evaluation with measurement of pressure gradients is required to assess shunt function

  5. Interventional treatment for the occlusive hepatic veins in Budd-Chiari syndrome

    International Nuclear Information System (INIS)

    Zhang Xitong; Xu Ke; Feng Bo; Su Hongying; Li Hong; Zu Maoheng; Cui Jingguo; Yang Xueliang; Zhao Jinxu; Chen Kai

    2003-01-01

    Objective: To evaluate the interventional methods for occlusive hepatic veins in Budd-Chiari syndrome and its mid and long-term effects. Methods: Forty-two patients (male 17 cases and female 25 cases) aged from 18 to 57 years old (mean 34.5 years) were studied. The liver functions were Child A in 23 cases, Child B in 6 cases, and Child C in 13 cases, respectively. A total of 92 hepatic veins were occluded. Among them, 29 left hepatic veins, 24 middle hepatic veins, 36 right hepatic veins, and 3 accessory hepatic veins were occluded. Thirty-four patients were accompanied with the stenotic or occlusive inferior vena cave (IVC) . The interventional methods included: (1) recanalization of occlusive hepatic veins (by transjugular, transfemoral, and percutaneous transhepatic route, or the combination of above three methods); (2) percutaneous transluminal angioplasty; (3) self-expanding stent implantation. The occlusive IVC in 32 patients also accepted PTA and/or stent implantation. Results: The successful recanalization was carried out in forty hepatic veins in 40 patients. PTA of occlusive veins was followed by stent implantation in 8 patients. The pressure of hepatic veins dropped from 34.5 cm H 2 O (25.0-48.0 cm H 2 O) to 22.0 cm H 2 O (12.0-35.0 cm H 2 O) after intervention (T=11.50, P < 0.01). The symptoms and pathological signs improved obviously in 32 cases and improved partly in 8 cases. During the follow-up period from 1 month to 54 months (mean 27.5 months), one cases died of liver function failure at one month after intervention. The re-intervention of occlusive veins in two cases were performed and the better results were acquired again. Five cases didn't accept re-intervention. Neither recurrence of symptoms nor re-occlusion of hepatic veins was found in the other 32 patients. Conclusion: (1) Multiple and synthetical interventional methods for the occlusive hepatic veins in Budd-Chiari syndrome can be utilized. (2) The intervention of hepatic vein is mini

  6. 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.

  7. 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 (Pjaundice 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.

  8. Transjugular intrahepatic portosystemic shunt for the treatment of Budd-Chiari syndrome

    International Nuclear Information System (INIS)

    Han Guohong; He Chuangye; Yin Zhanxin; Meng Xiangjie; Wang Jianhong; Zhang Hongbo; Zhou Xinming; Wu Kaichun; Ding Jie; Fan Daiming

    2008-01-01

    Objective: To evaluate the efficacy of transjugular intrahepatic portosystemic shunt (TIPS) for Budd-Chiari syndrome (BCS). Methods: 14 patients with clinical findings of progressive liver function abnormality and severe complication of portal hypertension (upper gastrointestinal bleeding and refractory ascites)were diagnosed as BCS. Based on imaging manifestations, these patients were classified as follows: obstruction of inferior vena cava (1 case); obstruction of hepatic veins (5 cases); combined obstruction (obstruction of hepatic veins and inferior vena cava)(8 cases). During the procedure, different puncture points were selected for fulfilling the real condition; including 7 cases from hepatic vein to portal vein; 4 cases from inferior vena cava to hepatic vein, 4 cases from the right hepatic vein to portal vein. After the operation, the follow-up evaluation of blood flow in the shunt was performed. Results: All of these patients were successfully performed with TIPS, with average pressure of portal vein decreasing from (4.9 ± 1.4) KPa to(3.2 ± 1.5) KPa. After 5 to 64 mouths follow-up, the recurrent upper gastrointestinal bleeding occurred in two patients due to stent stenosis and were well controlled through balloon angioplasty. Conclusions: TIPS is an effective treatment for BCS with progressive liver dysfunction or severe portal hypertension with upper gastrointestinal bleeding and refractory ascites. In addition, it also contributes to the treatment of the recurrent or severe portal hypertension after the inferior vena cava or hepatic vein angioplasty. (authors)

  9. Clinical application of Inoue-balloon in percutaneous transluminal angioplasty for Budd-Chiari syndrome

    International Nuclear Information System (INIS)

    Mei Jian; Qu Jian; Zhu Yaoqing; Wang Lei; Liu Cheng

    2007-01-01

    Objective: To investigate the feasibility and effect of recanalization of inferior vena cava with percutaneous transluminal angioplasty(PTA)by Inoue-balloon. Methods: Eighty-nine patients with Budd-chiari syndrome (BCS )were treated with PTA by Inoue-balloon. Results: After PTA, the median (interquartile range)diameter of hepatic segment inferior vena cava increased from 0.00 (0.20-0.00) cm to 1.90 (2.00 1.47)cm; (P < 0.001), and the mean pressure of inferior vena cava reduced from (20.63 ± 7.22) mmHg to (12.13 ± 5.60) mmHg; (P < 0.001); with only less serious complications as rupture in two cases and without need of prior minor diameter balloon dilation in Inoue-balloon PTA. Conclusion: The advantages of Inoue- balloon PTA for BCS are more reliable and facile than those of polyethylene balloon, and may take the place in the foreseen future. (authors)

  10. PTA and stenting for various types of Budd-Chiari syndrome

    International Nuclear Information System (INIS)

    Zhang Xinbao

    2011-01-01

    Objective: To investigate and evaluate PTA and stenting for various types of Budd-Chiari syndrome (BCS). Methods: 89 patients with BCS were diagnosed and treated during 7 years. The interventional procedures included: Percutaneous balloon dilatation (PBD) of inferior vena cava (IVC), PBD and stent placement for IVC, hepatic vein angioplasty via trans jugular vein, hepatic vein angioplasty via transhepatic and trans jugular approach, accessory hepatic vein angioplasty, percutaneous dual balloon dilatation for IVC and hepatic vein, and percutanous dual stent placement for IVC and hepatic vein. Results: The achievement ratio of PTA and stent placement was 96% and the mortality was 0%. The serious complication of PTA and stent placement of BCS was penetration into the pericardium, endovascular stent migration into right atrium. Conclusion: 1. PTA is a reliable procedures in treating type I a, II and III BCS, and TIPPS is useful for type I b BCS. But PTA and stenting is necessary for patients with type IV BCS. 2. Thrombolysis is needed for patients with type III, IV BCS. 3. Guiding of Color Doppler Ultrasound can improve the success of percutanous hepatic vein and reduce complications. (authors)

  11. 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.

  12. Budd-Chiari syndrome and secondary nodular regenerative hyperplasia of the liver. Case report with special reference to diagnostic imaging

    International Nuclear Information System (INIS)

    Mutze, A.; Rueckert, R.; Rudolph, B.; Paris, S.; Podrabski, P.

    1993-01-01

    Nodular regenerative hyperplasia is a benign epithelial proliferation of the liver with unknown etiology. We observed a female patient with Budd-Chiari syndrome and secondary nodular regenerative hyperplasia of the liver over a period of five years. Patient history, diagnostic imaging (sonography, CT, MR imaging, angiography), and clinical course are demonstrated along with results of macroscopic and microscopic studies of explanted liver prior to liver transplantation. The patient presented with various predisposing factors in combination that favour the development of nodular regenerative hyperplasia. (orig.) [de

  13. 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.

  14. 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.

  15. 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.

  16. Two cases of Budd-Chiari syndrome complicated by hepatocellular carcinoma. Hemodynamic study with computed tomography and venacavography

    Energy Technology Data Exchange (ETDEWEB)

    Takayasu, Kenichi; Moriyama, Noriyuki; Suzuki, Masao [National Cancer Center, Tokyo (Japan). Hospital

    1982-12-01

    Two patients with Budd-Chiari syndrome complicated by hepatocellular carcinoma in whom CT and inferior venacavography were carried out are described. The imaging study with CT disclosed: 1) calcified inferior vena cava (IVC) at the level of the diaphragm and lack of enhancement of the IVC and hepatic veins after contrast enhancement, 2) markedly dilated inferior right hepatic vein, 3) marked compensatory enlargement of the caudate lobe, 4) icile-like thrombus extending caudally in the IVC and dilatation of that portion of the IVC, and 5) enlarged and dilated azygos, hemiazygos and anterior longitudinal venous trunk of the internal vertebral venous plexus, and with cavography, 1) the inferior right hepatic vein as a venous outlet to maintain the liver functions, and 2) occlusion of the right and left hepatic vein openings and a communicating vein between the left hepatic and caudate lobe vein.

  17. 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.)

  18. Prevalence of Budd-Chiari Syndrome during Pregnancy or Puerperium: A Systematic Review and Meta-Analysis

    Directory of Open Access Journals (Sweden)

    Weirong Ren

    2015-01-01

    Full Text Available Women during pregnancy or puerperium are likely to develop Budd-Chiari syndrome (BCS. However, the reported prevalence of pregnancy-related BCS varied considerably among studies. Our study aims to systematically review this issue. Overall, 817 papers were initially identified via the PubMed, EMBASE, China National Knowledge Infrastructure, and Chinese Scientific and Technological Journal databases. Twenty of them were eligible. The prevalence of pregnancy-related BCS varied from 0% to 21.5%. The pooled prevalence was 6.8% (95% CI: 3.9–10.5% in all BCS patients, 6.3% (95% CI: 3.8–9.4% in primary BCS patients, and 13.1% (95% CI: 7.1–20.7% in female BCS patients. Among them, one study was carried out in Africa with a prevalence of 10.6%; 14 studies in Asian countries with a pooled prevalence of 7.1% (95% CI: 3.1–12.6%; and 5 studies in European countries with a pooled prevalence of 5.0% (95% CI: 3.1–7.3%. The pooled prevalence was 6.7% (95% CI: 2.6–12.3% in studies published before 2005 and 7.3% (95% CI: 4.2–12.5% in those published after 2005. In conclusion, pregnancy is a relatively common risk factor for BCS, but there is a huge variation in the prevalence among studies. Physicians should be aware of pregnancy-related BCS.

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

    International Nuclear Information System (INIS)

    Flor, Nicola; Zuin, Massimo; Brovelli, Francesca; Maggioni, Marco; Tentori, Augusta; Sardanelli, Francesco; Cornalba, Gian Paolo

    2010-01-01

    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.

  20. Budd-Chiari syndrome: dynamic enhancement findings with multi-slice helical CT and CT angiography analysis

    International Nuclear Information System (INIS)

    Meng Xiaochun; Shan Hong; Zhu Kangshun; Xu Chuan; Zhang Jiansheng; Liu Lingyun; Ye Binbin

    2005-01-01

    Objective: To investigate the dynamic enhancement regulations of liver and their mechanism in Budd-Chiari syndrome (BCS) by using multi-slice CT and evaluate the value of CT angiography in the diagnosis of BCS. Methods: 28 cases with BCS confirmed by digital subtraction angiography (DSA) were retrospectively analyzed. All patients underwent dynamic enhancement examinations with multi-slice CT within 1 week before DSA. The relevant vessels were reconstructed respectively with MIP, VR and MPR. Compared with the results of DSA, we analyzed the dynamic enhancement regulations of liver in BCS, estimated the value of dynamic enhancement CT exams and CTA techniques in judging the obstruction level and showing collateral vessels. Results: Of all 28 cases, CT correctly showed the obstruction level in 26 cases, and 2 had incorrect results which proved to be membranous obstruction of the inferior vena cava superior to diaphragm. In 22 cases with hepatic vein obstructions, hepatic parenchyma displayed typical patchy enhancement in 19, atypical patchy enhancement in 3.8 cases among these showed benign nodules. Simultaneously, CT showed stenosis and rigidity of portal vein branches in 20, enlargement of hepatic artery in 14, hepatic collateral vessels in 20 out of 22 cases. In 6 cases with simple obstruction of inferior vena cava, hepatic changes were not found. Collateral circulations in or out of liver corresponded to the obstruction level. Conclusion: Dynamic enhancement examinations with multi-slice CT can correctly reflect the hepatic hemodynamic changes. Transverse images, combined with CTA, can explicitly display the obstruction level of vascular lesions and collateral circulations in BCS. (authors)

  1. 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.

  2. Factor V Leiden mutation, prothrombin gene mutation, and deficiencies in coagulation inhibitors associated with Budd-Chiari syndrome and portal vein thrombosis: results of a case-control study

    NARCIS (Netherlands)

    Janssen, H. L.; Meinardi, J. R.; Vleggaar, F. P.; van Uum, S. H.; Haagsma, E. B.; van der Meer, F. J.; van Hattum, J.; Chamuleau, R. A.; Adang, R. P.; Vandenbroucke, J. P.; van Hoek, B.; Rosendaal, F. R.

    2000-01-01

    In a collaborative multicenter case-control study, we investigated the effect of factor V Leiden mutation, prothrombin gene mutation, and inherited deficiencies of protein C, protein S, and antithrombin on the risk of Budd-Chiari syndrome (BCS) and portal vein thrombosis (PVT). We compared 43 BCS

  3. Factor V Leiden mutation, prothrombin gene mutation, and deficiencies in coagulation inhibitors associated with Budd-Chiari syndrome and portal vein thrombosis : results of a case-control study

    NARCIS (Netherlands)

    Janssen, HLA; Meinardi, [No Value; Vleggaar, FP; van Uum, SHM; Haagsma, EB; van der Meer, FJM; van Hattum, J; Chamuleau, RAFM; Adang, RP; Vandenbroucke, JP; van Hoek, B; Rosendaal, FR

    2000-01-01

    In a collaborative multicenter case-control study, we investigated the effect of factor V Leiden mutation, prothrombin gene mutation, and inherited deficiencies of protein C, protein S, and antithrombin on the risk of Budd-Chiari syndrome (BCS) and portal vein thrombosis (PVT), We compared 43 BCS

  4. Detection and characterization of Budd-Chiari syndrome with inferior vena cava obstruction: Comparison of fixed and flexible delayed scan time of computed tomography venography.

    Science.gov (United States)

    Zhou, Peng-Li; Wu, Gang; Han, Xin-Wei; Bi, Yong-Hua; Zhang, Wen-Guang; Wu, Zheng-Yang

    2017-06-01

    To compare the results of computed tomography venography (CTV) with a fixed and a flexible delayed scan time for Budd-Chiari syndrome (BCS) with inferior vena cava (IVC) obstruction. A total of 209 consecutive BCS patients with IVC obstruction underwent either a CTV with a fixed delayed scan time of 180s (n=87) or a flexible delayed scan time for good image quality according to IVC blood flow in color Doppler ultrasonography (n=122). The IVC blood flow velocity was measured using a color Doppler ultrasound prior to CT scan. Image quality was classified as either good, moderate, or poor. Image quality, surrounding structures and the morphology of the IVC obstruction were compared between the two groups using a χ 2 -test or paired or unpaired t-tests as appropriate. Inter-observer agreement was assessed using Kappa statistics. There was no significant difference in IVC blood flow velocity between the two groups. Overall image quality, surrounding structures and IVC obstruction morphology delineation on the flexible delayed scan time of CTV images were rated better relative to those obtained by fixed delayed scan time of CTV images (ptime of CTV. There were no significant differences in Kappa statistics between Group A and Group B. The flexible delayed scan time of CTV was associated with better detection and more reliable characterization of BCS with IVC obstruction compared to a fixed delayed scan time. Copyright © 2017 Elsevier B.V. All rights reserved.

  5. Multiple FNH-Like Lesions in a Patient with Chronic Budd-Chiari Syndrome: Gd-EOB-Enhanced MRI and BR1 CEUS Findings

    Directory of Open Access Journals (Sweden)

    Caroline Newerla

    2012-01-01

    Full Text Available A-26-year old female patient with chronic Budd-Chiari syndrome due to different underlying blood disorders applied for a two-year followup of the liver with Gadolinium-ethoxybenzyl-diethylenetriaminepentaacetic-acid-(Gd-EOB-DTPA- enhanced MRI. The liver function tests were raised. Besides showing a progressive hepatosplenomegaly and a cirrhotic liver alteration, the MRI revealed multiple new nodular lesions in all liver segments. These lesions showed typical patterns in the precontrast images, while there was an arterial and a persistent portal venous enhancement. In the hepatobiliary liver-specific late phase, a central “washout” and a persistent rim enhancement were observed (target sign. The additionally performed contrast-enhanced ultrasonography showed a strong zentrifugal arterial enhancement of the lesions followed by an isoechoic enhancement in the portal venous and delayed liver phase. Histologically these lesions turned out as focal nodular hyperplasias (FNH or FNH-like lesions, also known as large regenerative nodules (LRNs. Differentiation between regenerative nodules like LRN and hepatocellular carcinoma (HCC in cirrhotic livers is crucial, and the target sign in the hepatobiliary phase of Gd-EOB-DTPA as well as the centrifugal arterial enhancement followed by an isoenhancement during a CEUS might be useful for establishing the correct diagnosis of such hypervascular lesions with proliferated and likely aberrant bile ducts.

  6. 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.

  7. Hepatopulmonary syndrome: a case report

    NARCIS (Netherlands)

    Huurnink, Arnold

    2015-01-01

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

  8. Síndrome de Budd-Chiari. Avances en el conocimiento de su fisiopatología y nuevas estrategias terapeuticas

    OpenAIRE

    Hernández Guerra de Aguilar, Manuel

    2006-01-01

    El síndrome de Budd-Chiari (SBC) es una enfermedad poco frecuente que no obstante afecta a población joven con una alta morbimortalidad. A pesar del gran esfuerzo investigador realizado, quedan aún por hacer avances en el conocimiento fisiopatológico y en el ámbito terapéutico, ambos estrechamente vinculados, que mejoren el pronóstico de estos enfermos. Sin embargo, la baja incidencia de esta enfermedad ha dificultado la realización de estudios prospectivos y la obtención de resultados de in...

  9. 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.

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

    OpenAIRE

    Aliye Sağkan Öztürk; Nuri Altuğ; Serkan İrfan Köse; Oktay Hasan Öztürk

    2016-01-01

    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 (T...

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

    Science.gov (United States)

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

    2018-05-30

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

  12. BEHÇET’S SYNDROME AND THROMBOSIS

    Directory of Open Access Journals (Sweden)

    Emire Seyahi

    2011-07-01

    Full Text Available Behçet syndrome (BS is a multisystem vasculitis with unknown etiology and a unique geographic distribution. The disease course is characterized by exacerbations and remissions while abating as the years pass. The usual onset is in the third decade. Recurrent skin mucosa lesions and sight threatening panuveitis are the hallmark of the disease. Males are more severely affected than females. Vascular involvement can occur in up to 40 % of cases.  BS is unique among the vasculitides in that it may involve all sizes and types of vessels. It affects the veins more than the arteries. Lower extremity vein thrombosis is the most frequent manifestation of vascular involvement, followed by vena cava thrombosis, pulmonary artery aneurysms, Budd-Chiari syndrome, peripheral artery aneurysms, dural sinus thrombosis and abdominal aorta aneurysms. Vascular involvement is frequently associated with constitutional symptoms and increased acute phase response and is the major cause of increased mortality.  A predominantly neutrophilic vasculitis around the vaso vasorum is typical of BS. The thrombus is tightly adherent to the vessel wall which probably explains why thromboembolism is so rare despite the high frequency of venous disease. Thrombophilic factors do not seem to explain thrombotic tendency in BS. Immunosuppressive treatment is essential in suppression and preventing the attacks.

  13. False-positive image of portal thrombosis with MRI: portal hypertension as a pitfall. Observation in a Budd-Chiari syndrome

    International Nuclear Information System (INIS)

    Davy-Miallou, C.; Bousquet, J.C.; Bellin, M.F.; Guinet, C.; Grellet, J.

    1990-01-01

    This observation illustrates how difficult it is to interpret the intravascular signal observed with MRI in cases of portal hypertension. A signal occupying the entire lumen of the portal trunk and branches can be seen, which is constantly observed in the axial as well as coronal planes in the 3 series studied. It is hypointense relative to the liver on T1-weighted images, hyperintense on T2-weighted images: this appearance therefore perfectly mimicks portal thrombosis. Ultrasound combined with pulsed Doppler demonstrates the stagnant blood within the patent portal system. This kind of artifact, which is produced by a very slow flow or even by the standstill of flow, is much more difficult to recognize than the common flow artifacts; the criteria put forward by various authors to distinguish between artifacts and thrombosis are of no avail in this case. Examinations must able to confirm or rule out portal thrombosis in the case of portal hypertension with deceleration of flow. In practice, ultrasound studies, combined with pulsed Doppler in the best cases, is therefore indicated as a first-intension technique [fr

  14. Analysis of expression of von Willebrand factor, endothelin-1, vascular endothelial growth factor in Budd-Chiari syndrome with membranous obstruction

    International Nuclear Information System (INIS)

    Han Xinqiang; Zu Maoheng

    2011-01-01

    Objective: To investigate whether the injured vascular endothelial plays an important role in the membranous formation of the inferior vena cava (IVC). Methods: There were 40 cases of membranous obstruction of inferior vena cava (MOVC) in the experimental group and 40 arrhythmic inpatients in the control group from affiliated hospital. There were 23 males and 17 females in experimental group while 21 males and 19 females in control group, and the age were (41.8±8.1) yrs and (43.2± 7.6) yrs respectively. All of them had no anti-coagulation (clotting) drug history and smoking history, no hypertension, no pulmonary artery hypertension, no coronary heart disease, no valvular disease, no myocardial disease, no blood disease, no diabetes, no connective tissue disease and malignancy, and liver and renal function must be normal. And then the serum concentrations of von Willebrand factor (vWF), endothelin-l (ET-1), vascular endothelial growth factor (VEGF) were defined by enzyme-linked immunosorbent assay (ELISA). The results were analyzed with independent sample t-test. Results: In MOVC patients, the serum concentrations of vWF, ET-1 and VEGF [(37.8±6.6) μg/L, (31.9± 6.0) ng/L, (20.84±5.78) μg/L] were higher than those in the control group [(3.3±1.3) μg/L, (5.3±1.8) ng/L, (4.2±1.2) μg/L. t=32.65, 26.70, 17.85, P<0.01, respectively]. Conclusions: The injury of vascular endothelium is related to the formation of membrane in the IVC. (authors)

  15. 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: Medication ... uhs ), thyroid, or thymus How Tumors Can Cause Cushing Syndrome Normally, the pituitary gland in the brain controls ...

  16. BEHÇET’S SYNDROME AND THROMBOSIS

    Directory of Open Access Journals (Sweden)

    Emire Seyahi

    2011-01-01

    Full Text Available

    Behçet syndrome (BS is a multisystem vasculitis with unknown etiology and a unique geographic distribution. The disease course is characterized by exacerbations and remissions while abating as the years pass. The usual onset is in the third decade. Recurrent skin mucosa lesions and sight threatening panuveitis are the hallmark of the disease. Males are more severely affected than females. Vascular involvement can occur in up to 40 % of cases.  BS is unique among the vasculitides in that it may involve all sizes and types of vessels. It affects the veins more than the arteries. Lower extremity vein thrombosis is the most frequent manifestation of vascular involvement, followed by vena cava thrombosis, pulmonary artery aneurysms, Budd-Chiari syndrome, peripheral artery aneurysms, dural sinus thrombosis and abdominal aorta aneurysms. Vascular involvement is frequently associated with constitutional symptoms and increased acute phase response and is the major cause of increased mortality.  A predominantly neutrophilic vasculitis around the vaso vasorum is typical of BS. The thrombus is tightly adherent to the vessel wall which probably explains why thromboembolism is so rare despite the high frequency of venous disease. Thrombophilic factors do not seem to explain thrombotic tendency in BS. Immunosuppressive treatment is essential in suppression and preventing the attacks. 

  17. STUDY ON ETIOLOGY OF ASCITES

    Directory of Open Access Journals (Sweden)

    Konatham

    2015-07-01

    Full Text Available In this study 100 cases of ascites, evaluated for the etiological causes. And observed as cirrhosis with portal hypertension 82%, heart failure 8%, chronic kidney disease 3%, nephritic syndrome 2%, peritoneal calcinomatosis 2%, chronic pancreatitis 1% por tal vein thrombosis 1%, Budd - chiari syndrome 1%. AIM OF THE STUDY: To study the various etiologies and their incidence of Ascites.

  18. International Journal of Health Research

    African Journals Online (AJOL)

    Erah

    2008-06-02

    Jun 2, 2008 ... As the young girl was suffering from antiphospholipid syndrome secondary to lupus, this milder form of Budd-Chiari Syndrome was later treated in India with surgical shunts. Keywords: Systemic lupus erythematosus; Budd-Chiari. Syndrome; lupus anticoagulants; thrombosis; antiphospholipid syndrome.

  19. What Causes Down Syndrome?

    Science.gov (United States)

    ... Division Offices, Branches & Programs Research Areas Training and Recruitment Division of Intramural Research (DIR) Office of the ... launched DS-Connect® as a safe and secure online registry for people with Down syndrome, their families, ...

  20. Sjogren's Syndrome: Can It Cause Recurrent UTIs?

    Science.gov (United States)

    ... Sjogren's syndrome last year, I've had three urinary tract infections. Is there any evidence that Sjogren's syndrome causes ... cause symptoms that you might mistake for a urinary tract infection (UTI). Sjogren's syndrome is an autoimmune disorder in ...

  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 f...... from hypoxaemia in upright position and even during minimal psychical activity. Contrast echocardiography, using micro-bubbles as the contrast, is required to establish the diagnosis. No medical therapy is available, only liver transplantation can cure the disease....

  2. Transjugular Intrahepatic Portosystemic Shunt (TIPS)

    Medline Plus

    Full Text Available ... and/or hydrothorax (in the chest). Budd-Chiari syndrome , a blockage in one or more veins that ... intentionally to solve the problem. Although extremely rare, children may also require a TIPS procedure. TIPS in ...

  3. SAMJ 8615.indd

    African Journals Online (AJOL)

    Autoimmune hepatitis. Haemophagocytic lymphohistiocytosis. Neonatal haemochromatosis. Autoimmune haemolytic anaemia with giant cell hepatitis. Toxic. Drugs/toxins/herbals. Amanita phalloides. Vascular. BuddChiari syndrome. Venoocclusive disease. Ischaemic hepatitis/shock liver. Post cardiac surgery. Liver trauma.

  4. Radiation nephritis causing nephrotic syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Jennette, J.C.; Ordonez, N.G.

    1983-12-01

    Clinical symptoms of acute radiation nephritis with nephrotic syndrome developed in a fifty-six-year-old woman after abdominal radiation therapy for an astrocytoma of the spinal cord. The diagnosis of radiation nephritis was confirmed by renal biopsy. To our knowledge, this is the first documented case of radiation nephritis associated with nephrotic syndrome.

  5. 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.

  6. Germline KRAS mutations cause Noonan syndrome.

    NARCIS (Netherlands)

    Schubbert, S.; Zenker, M.; Rowe, S.L.; Boll, S.; Klein, C.; Bollag, G.; Burgt, I. van der; Musante, L.; Kalscheuer, V.M.M.; Wehner, L.E.; Nguyen, H.; West, B.; Zhang, K.Y.; Sistermans, E.A.; Rauch, A.; Niemeyer, C.M.; Shannon, K.; Kratz, C.P.

    2006-01-01

    Noonan syndrome (MIM 163950) is characterized by short stature, facial dysmorphism and cardiac defects. Heterozygous mutations in PTPN11, which encodes SHP-2, cause approximately 50% of cases of Noonan syndrome. The SHP-2 phosphatase relays signals from activated receptor complexes to downstream

  7. Noonan Syndrome: Symptoms and Causes

    Science.gov (United States)

    ... be delayed. But because this disorder causes bone maturity to be delayed, growth sometimes continues into the ... mild intellectual disability A wide range of mental, emotional and behavioral issues that are usually mild Hearing ...

  8. 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...

  9. Infectious Causes of Right Middle Lobe Syndrome.

    Science.gov (United States)

    Rashid, Aatif; Nanjappa, Sowmya; Greene, John N

    2017-01-01

    Right middle lobe (RML) syndrome is defined as recurrent or chronic obstruction or infection of the middle lobe of the right lung. Nonobstructive causes of middle lobe syndrome include inflammatory processes and defects in the bronchial anatomy and collateral ventilation. We report on 2 case patients with RML syndrome, one due to infection with Mycobacterium avium complex followed by M asiaticum infection and the other due to allergic bronchopulmonary aspergillosis. A history of atopy, asthma, or chronic obstructive pulmonary disease has been reported in up to one-half of those with RML. The diagnosis can be made by plain radiography, computed tomography, and bronchoscopy. Medical treatment consists of bronchodilators, mucolytics, and antimicrobials. Patients whose disease is unresponsive to treatment and those with obstructive RML syndrome can be offered surgical treatment.

  10. An uncommon cause of anaemia: Sheehan's syndrome.

    Science.gov (United States)

    Melchardt, Thomas; Namberger, Konrad; Weiss, Lukas; Egle, Alexander; Faber, Viktoria; Greil, Richard

    2010-12-01

    Ischemic pituitary necrosis due to severe postpartum haemorrhage called Sheehan's syndrome is a rare cause of hypopituitarism in the western world, but much more common in developing countries. A 45-year-old female patient being a war refugee from Chechnya with severe anaemia and fatigue was diagnosed at our outpatient department with Sheehan's syndrome after severe postpartum haemorrhage and emergency hysterectomy 15 years ago. Panhypopituitarism was adequately treated with substitution of hydrocortisone, thyroxine and transdermal oestrogen which resulted in haemoglobin increase to nearly normal levels and symptoms improved immediately. Severe anaemia caused by panhypopituitarism shows the importance of the hormonal system for erythropoiesis. Clinical and basic scientific evidence indicates thyroidal hormones to be the main cause.

  11. Angelman syndrome, cause of epilepsy in infants

    International Nuclear Information System (INIS)

    Sykora, P.; Vicenova, A.; Svecova, L.; Kolnikova, M.

    2014-01-01

    Several chromosomal syndromes include brain dysfunction symptoms as mental retardation, developmental speech disorders and epilepsy. Authors present a case report of Angelman syndrome – neuro behavioral disorder associated with deletion in the maternal chromosome 15q 11-g13 causing mutation of the UBE3A gene. The main features consist of psychomotor retardation, developmental speech disorder, ataxia, tremor, hyperactivity, clapping hands, inadequate laughter and happiness, attention deficit and epilepsy. The later starts before the 3rd year of age in form of atypical absences, myoclonic and generalized tonic-clonic seizures. EEG typically shows episodes of slow activity with sharp waves occipitally. Prognosis is poor. Genetic syndromes importantly contribute to the etiology of epilepsy with early seizures. (author)

  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. Dysphagia caused by a lateral medullary infarction syndrome (Wallenberg's syndrome)

    Science.gov (United States)

    El Mekkaoui, Amine; Irhoudane, Hanane; Ibrahimi, Adil; El Yousfi, Mounia

    2012-01-01

    A 68-year-old man was referred to our hospital for a dysphagia evolving for 10 days. Clinical examination had found neurological signs as contralateral Horner's syndrome, ipsilateral palatal paresis, gait ataxia and hoarseness. Video-fluoroscopy showed a lack of passage of contrast medium to the distal esophagus. Esogastroduodenoscopy was normal. The cranial MRI 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. PMID:23077713

  14. Infrasellar pituitary gangliocytoma causing Cushing's syndrome.

    Science.gov (United States)

    Domingue, Marie-Eve; Marbaix, Etienne; Do Rego, Jean-Luc; Col, Vincent; Raftopoulos, Christian; Duprez, Thierry; Vaudry, Hubert; Maiter, Dominique

    2015-10-01

    Pituitary gangliocytomas are uncommon neuronal tumours that may present with endocrine disorders, the most frequent being acromegaly caused by growth hormone hypersecretion. Cushing's syndrome is very rarely seen with gangliocytomas. We report the unique case of a 62 year-old woman whose clinical picture and endocrine testing clearly demonstrated adrenocorticotropin (ACTH)-dependent Cushing's syndrome. Pituitary magnetic resonance imaging showed a 12-mm homogeneous, infra- and retrosellar mass first diagnosed as pituitary macroadenoma. Transsphenoidal surgery was performed and allowed complete resection of the tumour with sparing of normal anterior pituitary. Very low postoperative serum cortisol and ACTH levels were observed in the early postoperative period and the patient is still in remission 18 months after surgery, thus demonstrating that the resected lesion was entirely responsible for the clinical picture. Histological and immunocytochemical analyses demonstrated a benign tumour composed of mature neuronal cells suggestive of a gangliocytoma, expressing both ACTH and corticotropin-releasing hormone (CRH). The tumour was surrounded by a rim of pituitary tissue containing ACTH-producing endocrine cells. Careful analysis of the resected lesion did not reveal any pituitary microadenoma. We search literature for similar cases and retraced only nine cases of gangliocytomas associated with Cushing's syndrome. In most of them, the tumour was combined with either pituitary corticotroph adenoma or hyperplasia. Our case represents a unique case of an infrasellar pituitary gangliocytoma which was able to cause Cushing's syndrome by both direct ACTH production and CRH-induced stimulation of neighbour normal corticotroph cells.

  15. Hepatic vena cava syndrome: New concept of pathogenesis.

    Science.gov (United States)

    Shrestha, Santosh Man; Kage, Masayoshi; Lee, Byung Boong

    2017-06-01

    Hepatic vena cava syndrome, also known as membranous obstruction of inferior vena cava (IVC), was considered a rare congenital disease and classified under Budd-Chiari syndrome. It is now recognized as a bacterial infection-induced disease related to poor hygiene. Localized thrombophlebitis of the IVC at the site close to hepatic vein outlets is the initial lesion which converts on resolution into stenosis or complete obstruction, the circulatory equilibrium being maintained by development of cavo-caval collateral anastomosis. These changes persist for the rest of the patient's life. The patient remains asymptomatic for a variable period until acute exacerbations occur, precipitated by bacterial infection, resulting in deposition of thrombi at the site of the lesion and endophlebitis in intrahepatic veins. Large thrombus close to hepatic vein outlets results in ascites from hepatic venous outflow obstruction, which is followed by development of venocentric cirrhosis. Endophlebitis of intrahepatic veins results in ischemic liver damage and development of segmental stenosis or membrane. Acute exacerbations are recognized clinically as intermittent jaundice and/or elevation of aminotransferase or ascites associated with neutrophil leukocytosis and elevation of C-reactive protein; sonologically, they are recognized as the presence of thrombi of different ages in IVC and thrombosis of intrahepatic veins. Development of liver cirrhosis and hepatocellular carcinoma is related to severity or frequency of acute exacerbations and not to duration or type of caval obstruction. Hepatic vena cava syndrome is a common co-morbid condition with other liver diseases in developing countries and it should be considered in differential diagnosis in patient with intermittent elevation serum bilirubin and or aminotransferase or development of ascites and cirrhosis. © 2017 The Japan Society of Hepatology.

  16. [Case of posterior reversible encephalopathy syndrome caused by Fisher syndrome].

    Science.gov (United States)

    Yokoi, Katsunori; Ando, Tetsuo; Kawakami, Osamu

    2018-01-26

    This report presents a case of a 71-year-old woman with Fisher syndrome who had posterior reversible encephalopathy syndrome (PRES) before the initiation of intravenous immunoglobulin (IVIg) treatment. She had symptoms of common cold 2 weeks before the onset of PRES. On the day of the onset, she began to stagger while walking. On day 2, she developed hypertension, vision impairment, and limb weakness and was admitted to the hospital. On day 3, she was provided steroid pulse therapy. On day 4, she developed convulsions and right imperfection single paralysis and was transferred to the our hospital. During the transfer, the patient was conscious. Her blood pressure was high at 198/107 mmHg. She had mild weakness in her limbs and face, light perception in both eyes, dilation of both pupils, total external ophthalmoplegia, no tendon reflexes, and limb and trunk ataxia. We diagnosed PRES because of the high signal intensities observed on T 2 -weighted MRI on both sides of the parietal and occipital lobes. We also diagnosed Fisher syndrome because of a positive anti-GQ1b immunoglobulin G antibody test and albuminocytologic dissociation in the cerebrospinal fluid. PRES showed prompt improvement with antihypertensive therapy, whereas Fisher syndrome slowly improved over a course of 2 months. This case is the first report of PRES without IVIg suggesting that Fisher syndrome induces hypertension and causes PRES.

  17. Magnetic resonance imaging (MRI) in diffuse liver diseases. Comparison with CT

    Energy Technology Data Exchange (ETDEWEB)

    Yoshikawa, Masaharu; Ebara, Masaaki; Ohto, Masao

    1987-06-01

    MRI (Magnetic Resonance Imaging) was performed in 74 patients with chronic hepatitis, liver cirrhosis, idiopathic portal hypertension, Budd-Chiari syndrome, extrahepatic protal vein occlusion, Wilson disease and hemochromatosis. We measured relaxation time of the liver and the spleen in these patients and compared MRI with CT in the diagnostic capability. MRI was superior to plain CT in the detection of collateral vessels in liver cirrhosis and extrahepatic protal vein occlusion. MRI could also demonstrate the occluded part of the inferior vena cava in Budd-Chiari syndrome. However, MRI was almost the same as CT in the visualization of the hepatic configuration in liver cirrhosis. In liver cirrhosis, T1 values of the liver and the spleen were longer than those in normal controls, and T1 values of the liver were correlated with ICG R-15. Hepatic T1 values in Budd-Chiari syndrome were longer than those in normal controls.

  18. LRIG2 mutations cause urofacial syndrome.

    Science.gov (United States)

    Stuart, Helen M; Roberts, Neil A; Burgu, Berk; Daly, Sarah B; Urquhart, Jill E; Bhaskar, Sanjeev; Dickerson, Jonathan E; Mermerkaya, Murat; Silay, Mesrur Selcuk; Lewis, Malcolm A; Olondriz, M Beatriz Orive; Gener, Blanca; Beetz, Christian; Varga, Rita E; Gülpınar, Omer; Süer, Evren; Soygür, Tarkan; Ozçakar, Zeynep B; Yalçınkaya, Fatoş; Kavaz, Aslı; Bulum, Burcu; Gücük, Adnan; Yue, Wyatt W; Erdogan, Firat; Berry, Andrew; Hanley, Neil A; McKenzie, Edward A; Hilton, Emma N; Woolf, Adrian S; Newman, William G

    2013-02-07

    Urofacial syndrome (UFS) (or Ochoa syndrome) is an autosomal-recessive disease characterized by congenital urinary bladder dysfunction, associated with a significant risk of kidney failure, and an abnormal facial expression upon smiling, laughing, and crying. We report that a subset of UFS-affected individuals have biallelic mutations in LRIG2, encoding leucine-rich repeats and immunoglobulin-like domains 2, a protein implicated in neural cell signaling and tumorigenesis. Importantly, we have demonstrated that rare variants in LRIG2 might be relevant to nonsyndromic bladder disease. We have previously shown that UFS is also caused by mutations in HPSE2, encoding heparanase-2. LRIG2 and heparanase-2 were immunodetected in nerve fascicles growing between muscle bundles within the human fetal bladder, directly implicating both molecules in neural development in the lower urinary tract. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  19. SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome

    Science.gov (United States)

    Fabre, Alexandre; Charroux, Bernard; Martinez-Vinson, Christine; Roquelaure, Bertrand; Odul, Egritas; Sayar, Ersin; Smith, Hilary; Colomb, Virginie; Andre, Nicolas; Hugot, Jean-Pierre; Goulet, Olivier; Lacoste, Caroline; Sarles, Jacques; Royet, Julien; Levy, Nicolas; Badens, Catherine

    2012-01-01

    Syndromic diarrhea (or trichohepatoenteric syndrome) is a rare congenital bowel disorder characterized by intractable diarrhea and woolly hair, and it has recently been associated with mutations in TTC37. Although databases report TTC37 as being the human ortholog of Ski3p, one of the yeast Ski-complex cofactors, this lead was not investigated in initial studies. The Ski complex is a multiprotein complex required for exosome-mediated RNA surveillance, including the regulation of normal mRNA and the decay of nonfunctional mRNA. Considering the fact that TTC37 is homologous to Ski3p, we explored a gene encoding another Ski-complex cofactor, SKIV2L, in six individuals presenting with typical syndromic diarrhea without variation in TTC37. We identified mutations in all six individuals. Our results show that mutations in genes encoding cofactors of the human Ski complex cause syndromic diarrhea, establishing a link between defects of the human exosome complex and a Mendelian disease. PMID:22444670

  20. 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.

  1. 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 pituitary ... mutations in the gene CABLES1 may lead to Cushing syndrome, a rare disorder in which the body overproduces ...

  2. Red man syndrome caused by vancomycin powder.

    Science.gov (United States)

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

    2018-04-01

    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.

  3. 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.

  4. Forearm Compartment Syndrome Caused by Reperfusion Injury

    Directory of Open Access Journals (Sweden)

    Ufuk Sayar

    2014-01-01

    Full Text Available Compartment syndrome is commonly seen following lower extremity ischemia. However, upper extremities’ compartment syndrome, especially after any vascular surgical procedures, is infrequent. Herein we report a case of an acute forearm compartment syndrome that was developed after delayed brachial artery embolectomy.

  5. Ischemic syndromes causing dizziness and vertigo.

    Science.gov (United States)

    Choi, K-D; Lee, H; Kim, J-S

    2016-01-01

    Dizziness/vertigo and imbalance are the most common symptoms of vertebrobasilar ischemia. Even though dizziness/vertigo usually accompanies other neurologic symptoms and signs in cerebrovascular disorders, a diagnosis of isolated vascular vertigo is increasing markedly by virtue of recent developments in clinical neurotology and neuroimaging. It is important to differentiate isolated vertigo of a vascular cause from more benign disorders involving the inner ear, since therapeutic strategies and prognosis differ between these two conditions. Over the last decade, we have achieved a marked development in the understanding and diagnosis of vascular dizziness/vertigo. Introduction of diffusion-weighted magnetic resonance imaging (MRI) has greatly enhanced detection of infarctions in patients with vascular dizziness/vertigo, especially in the posterior-circulation territories. However, well-organized bedside neurotologic evaluation is even more sensitive than MRI in detecting acute infarction as a cause of spontaneous prolonged vertigo. Furthermore, detailed evaluation of strategic infarctions has elucidated the function of various vestibular structures of the brainstem and cerebellum. In contrast, diagnosis of isolated labyrinthine infarction still remains a challenge. This diagnostic difficulty also applies to isolated transient dizziness/vertigo of vascular origin. Regarding the common nonlacunar mechanisms in the acute vestibular syndrome from small infarctions, individual strategies may be indicated to prevent recurrences of stroke in patients with vascular vertigo. © 2016 Elsevier B.V. All rights reserved.

  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. What Causes Prader-Willi Syndrome?

    Science.gov (United States)

    ... a fundamental role in regulating hunger and fullness. Maternal uniparental disomy (pronounced yoo-nuh-puh-REN-tl ... 2018). Prader-Willi syndrome and early-onset morbid obesity NIH rare disease consortium: A review of natural ...

  8. 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.

  9. A rare cause of acute coronary syndrome: Kounis syndrome.

    Science.gov (United States)

    Almeida, João; Ferreira, Sara; Malheiro, Joana; Fonseca, Paulo; Caeiro, Daniel; Dias, Adelaide; Ribeiro, José; Gama, Vasco

    2016-12-01

    Kounis syndrome is an acute coronary syndrome in the context of a hypersensitivity reaction. The main pathophysiological mechanism appears to be coronary vasospasm. We report the case of a patient with a history of allergy to quinolones, who was given ciprofloxacin before an elective surgical procedure and during drug administration developed symptoms and electrocardiographic changes suggestive of ST-segment elevation acute coronary syndrome. The drug was suspended and coronary angiography excluded epicardial coronary disease. Two hours after withdrawal of the drug the symptoms and ST elevation had resolved completely. Copyright © 2016 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.

  10. Polymyositis-like syndrome caused by hypothyroidism, presenting as camptocormia.

    Science.gov (United States)

    Kim, Ji Min; Song, Eun Joo; Seo, Jae Seok; Nam, Eon Jeong; Kang, Young Mo

    2009-01-01

    Polymyositis-like syndrome characterized by proximal muscle weakness and elevation of muscle enzymes may be a presenting manifestation of hypothyroidism. Camptocormia, which can be caused by myopathy of the paraspinal muscles, is an involuntary truncal flexion of the thoracolumbar spine while standing or walking. Among various neuromuscular disorders, hypothyroidism has not been reported in the literature as a cause of camptocormia. This is the first report of polymyositis-like syndrome with camptocormia caused by hypothyroidism.

  11. A Rare Cause of Hypothalamic Obesity, Rohhad Syndrome: 2 Cases.

    Science.gov (United States)

    Şiraz, Ülkü Gül; Okdemir, Deniz; Direk, Gül; Akın, Leyla; Hatipoğlu, Nihal; Kendırcı, Mustafa; Kurtoğlu, Selim

    2018-03-19

    Rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) syndrome is a rare disease that is difficult to diagnosis and distinguish from genetic obesity syndromes. The underlying causes of the disease has not been fully explained. Hypothalamic dysfunction causes endocrine problems, respiratory dysfunction and autonomic alterations. There are around 80 reported patients due to lack of recognition. We present two female patient suspected of ROHHAD due to weight gain since early childhood. The presented symptoms, respiratory and circulatory dysfunction, hypothalamic hypernatremia, hypothalamo-pituitary hormonal disorders such as santral hypothyrodism, hyperprolactinemia and santral early puberty are completely matched the criteria of ROHHAD syndrome. ROHHAD syndrome should be considered in differential diagnosis since it is difficult to distinguish from causes of monogenic obesity. Early identification of the disease reduces morbidity of the syndrome and patients require regular follow-up by a multidisciplinary approach.

  12. Nicolau syndrome caused by the "self-injection" of diclofenac

    Directory of Open Access Journals (Sweden)

    Selcuk Yaylaci

    2016-01-01

    Full Text Available Nicolau syndrome (NS is a rare injection-related local complication. Some drugs have been implicated to cause this syndrome. Several cases were previously reported in the literature. In this paper, an interesting case of NS in a 30-year-old male patient after intramuscular self-injection of diclofenac was presented.

  13. 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)

  14. Imperforated cor triatriatum dexter in a dog with concurrent caudal vena cava wall mineralization

    NARCIS (Netherlands)

    Dobak, Tetyda Paulina; Starrak, Gregory; Linn, Kathleen; Snead, Elisabeth Christine Roberston

    2017-01-01

    BACKGROUND: Cor triatriatum dexter (CTD) is a rare congenital cardiac malformation with various manifestations and has been sporadically described in dogs. Clinically the dogs present with nonspecific signs of right heart failure or Budd-Chiari-like syndrome. Other associated concurrent

  15. Pregnancy and paroxysmal nocturnal hemoglobinuria

    NARCIS (Netherlands)

    Bais, J.; Pel, M.; von dem Borne, A.; van der Lelie, H.

    1994-01-01

    A patient is described who developed symptoms of paroxysmal nocturnal hemoglobinuria (PNH) in her first pregnancy. This was uneventful except for a spontaneous preterm delivery. The second pregnancy was complicated by severe anemia and a hemolytic crisis with Budd-Chiari syndrome at 31 weeks'

  16. Case report

    African Journals Online (AJOL)

    abp

    2015-06-03

    Jun 3, 2015 ... Key words: Behcet´s disease, Budd-Chiari syndrome, renal arterial microaneurysms, aneurysm rupture. Received: ... Behcet's disease is a multisystemic vasculitis of unknown etiology with a chronic relapsing course. Vasculitis in ... Sixteen year-old male presenting with severe abdominal pain and swelling ...

  17. Case report

    African Journals Online (AJOL)

    ebutamanya

    17 janv. 2016 ... Budd-Chiari syndrome: a rare complication of hepatic sarcoidosis (about one case). Ismael Ait Sghier1,&, Nabil Moatassim Billah1. 1Service de Radiologie Centrale, Hôpital Avicenne, Rabat, Maroc. &Corresponding author: Ismael Ait Sghier, Service de Radiologie Centrale, Hôpital Avicenne, Rabat, Maroc.

  18. A restricted spectrum of NRAS mutations causes Noonan syndrome

    NARCIS (Netherlands)

    Cirstea, Ion C.; Kutsche, Kerstin; Dvorsky, Radovan; Gremer, Lothar; Carta, Claudio; Horn, Denise; Roberts, Amy E.; Lepri, Francesca; Merbitz-Zahradnik, Torsten; Koenig, Rainer; Kratz, Christian P.; Pantaleoni, Francesca; Dentici, Maria L.; Joshi, Victoria A.; Kucherlapati, Raju S.; Mazzanti, Laura; Mundlos, Stefan; Patton, Michael A.; Silengo, Margherita Cirillo; Rossi, Cesare; Zampino, Giuseppe; Digilio, Cristina; Stuppia, Liborio; Seemanova, Eva; Pennacchio, Len A.; Gelb, Bruce D.; Dallapiccola, Bruno; Wittinghofer, Alfred; Ahmadian, Mohammad R.; Tartaglia, Marco; Zenker, Martin

    Noonan syndrome, a developmental disorder characterized by congenital heart defects, reduced growth, facial dysmorphism and variable cognitive deficits, is caused by constitutional dysregulation of the RAS-MAPK signaling pathway. Here we report that germline NRAS mutations conferring enhanced

  19. Epidural tumour (calcified fibroma) as cause of a 'Cervical Syndrome'

    International Nuclear Information System (INIS)

    Piotrowski, W.P.

    1983-01-01

    A calcified fibroma caused a so called cervical syndrome not responding to medical treatment. In the computerized tomography a compression of the cervical spinal cord could be demonstrated. From this the indication for the operation was given. (Author)

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

    African Journals Online (AJOL)

    comprehensive series of 75 patients.[1] SMA syndrome is a ... Patient had history of weight loss of about ten kilogram in the ... had past history for appendicular perforation 3 years back for ... Uncommon Cause of Abdominal Pain Mimicking.

  1. Epidural tumour (calcified fibroma) as cause of a 'Cervical Syndrome'

    Energy Technology Data Exchange (ETDEWEB)

    Piotrowski, W P

    1983-01-01

    A calcified fibroma caused a so called Cervical Syndrome not responding to medical treatment. In the computerized tomography a compression of the cervical spinal cord could be demonstrated. From this the indication for the operation was given.

  2. Restless Legs Syndrome -- Causes and Symptoms

    Science.gov (United States)

    ... miles): 10 25 50 Share: Essentials in Sleep Insomnia Overview & Facts Symptoms & Causes Diagnosis & Self Tests Treatment Sleep Apnea Overview & Facts ... Self Test & Diagnosis Treatment Snoring Overview and Facts Causes and Symptoms Self Tests & ... Insomnia Short Sleeper Hypersomnias Narcolepsy Insufficient ...

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

    Science.gov (United States)

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

    2006-09-01

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

  4. 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.

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

    International Nuclear Information System (INIS)

    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; Choi, Yun Sun

    1999-01-01

    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

  6. Nakalanga Syndrome: Clinical Characteristics, Potential Causes, and Its Relationship with Recently Described Nodding Syndrome.

    Directory of Open Access Journals (Sweden)

    Kathrin Föger

    2017-02-01

    Full Text Available Nakalanga syndrome is a condition that was described in Uganda and various other African countries decades ago. Its features include growth retardation, physical deformities, endocrine dysfunction, mental impairment, and epilepsy, amongst others. Its cause remains obscure. Nodding syndrome is a neurological disorder with some features in common with Nakalanga syndrome, which has been described mainly in Uganda, South Sudan, and Tanzania. It has been considered an encephalopathy affecting children who, besides head nodding attacks, can also present with stunted growth, delayed puberty, and mental impairment, amongst other symptoms. Despite active research over the last years on the pathogenesis of Nodding syndrome, to date, no convincing single cause of Nodding syndrome has been reported. In this review, by means of a thorough literature search, we compare features of both disorders. We conclude that Nakalanga and Nodding syndromes are closely related and may represent the same condition. Our findings may provide new directions in research on the cause underlying this neurological disorder.

  7. The ``eco-syndrome`` and what causes it; Das Oeko-Syndrom`` und seine Ausloeser

    Energy Technology Data Exchange (ETDEWEB)

    Voack, C. [Technische Univ. Muenchen (Germany). Klinik und Poliklinik fuer Dermatolologie und Allergologie; Borelli, S. [Technische Univ. Muenchen (Germany). Klinik und Poliklinik fuer Dermatolologie und Allergologie; Ring, J. [Technische Univ. Muenchen (Germany). Klinik und Poliklinik fuer Dermatolologie und Allergologie

    1997-01-24

    Headache, tiredness, skin irritation etc. may be the results of adverse effects on health due to toxic substances in residential buildings and at workplaces. Possible causes of syndromes that are hard to objectify but associated with serious afflictions such as the ``eco-syndrome`` or Multiple Chemical Sensitivity (MCS) and the Sick Building Syndrome (SBS) are listed. (VHE) [Deutsch] Bei Kopfschmerzen, Muedigkeit, Hautirritationen u.ae. besteht die Moeglichkeit einer gesundheitlichen Beeintraechtigung durch Schadstoff im Wohn- oder Arbeitsbereich. Moegliche Ausloeser fuer schwer objektivierbare, aber mit hohem Leidensdruck verbundene Krankheitsbilder wie Oeko-Syndrom(Multiple Chemical Sensivity, MCS) und SBS (Sick-Building-Syndrom) werden aufgelistet. (VHE)

  8. 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...

  9. Genetic, chromosomal, and syndromic causes of neural tube defects

    Science.gov (United States)

    Seidahmed, Mohammed Z.; Abdelbasit, Omer B.; Shaheed, Meeralebbae M.; Alhussein, Khalid A.; Miqdad, Abeer M.; Samadi, Abdulmohsen S.; Khalil, Mohammed I.; Al-Mardawi, Elham; Salih, Mustafa A.

    2014-01-01

    Objective: To ascertain the incidence, and describe the various forms of neural tube defects (NTDs) due to genetic, chromosomal, and syndromic causes. Methods: We carried out a retrospective analysis of data retrieved from the medical records of newborn infants admitted to the Neonatal Intensive Care Unit with NTDs and their mothers spanning 14 years (1996-2009) at the Security Forces Hospital, Riyadh, Saudi Arabia. The cases were ascertained by a perinatologist, neonatologist, geneticist, radiologist, and neurologist. The literature was reviewed via a MEDLINE search. Only liveborn babies were included. Permission from the Educational Committee at the Security Forces Hospital was obtained prior to the collection of data. Results: Out of 103 infants with NTDs admitted during this period, 20 (19.4%) were found to have an underlying genetic syndromic, chromosomal and/or other anomalies. There were 5 cases of Meckel-Gruber syndrome, 2 Joubert syndrome, one Waardenburg syndrome, one Walker-Warburg syndrome, 2 chromosomal disorders, 2 caudal regression, one amniotic band disruption sequence, one associated with omphalocele, one with diaphragmatic hernia, and 4 with multiple congenital anomalies. Conclusions: There is a high rate of underlying genetic syndromic and/or chromosomal causes of NTDs in the Saudi Arabian population due to the high consanguinity rate. Identification of such association can lead to more accurate provisions of genetic counseling to the family including preimplantation genetic diagnosis or early termination of pregnancies associated with lethal conditions. PMID:25551112

  10. Genetic, chromosomal, and syndromic causes of neural tube defects.

    Science.gov (United States)

    Seidahmed, Mohammed Z; Abdelbasit, Omer B; Shaheed, Meeralebbae M; Alhussein, Khalid A; Miqdad, Abeer M; Samadi, Abdulmohsen S; Khalil, Mohammed I; Al-Mardawi, Elham; Salih, Mustafa A

    2014-12-01

    To ascertain the incidence, and describe the various forms of neural tube defects (NTDs) due to genetic, chromosomal, and syndromic causes. We carried out a retrospective analysis of data retrieved from the medical records of newborn infants admitted to the Neonatal Intensive Care Unit with NTDs and their mothers spanning 14 years (1996-2009) at the Security Forces Hospital, Riyadh, Saudi Arabia. The cases were ascertained by a perinatologist, neonatologist, geneticist, radiologist, and neurologist. The literature was reviewed via a MEDLINE search. Only liveborn babies were included. Permission from the Educational Committee at the Security Forces Hospital was obtained prior to the collection of data. Out of 103 infants with NTDs admitted during this period, 20 (19.4%) were found to have an underlying genetic syndromic, chromosomal and/or other anomalies. There were 5 cases of Meckel-Gruber syndrome, 2 Joubert syndrome, one Waardenburg syndrome, one Walker-Warburg syndrome, 2 chromosomal disorders, 2 caudal regression, one amniotic band disruption sequence, one associated with omphalocele, one with diaphragmatic hernia, and 4 with multiple congenital anomalies. There is a high rate of underlying genetic syndromic and/or chromosomal causes of NTDs in the Saudi Arabian population due to the high consanguinity rate. Identification of such association can lead to more accurate provisions of genetic counseling to the family including preimplantation genetic diagnosis or early termination of pregnancies associated with lethal conditions.

  11. Mutations in HPSE2 Cause Urofacial Syndrome

    Science.gov (United States)

    Daly, Sarah B.; Urquhart, Jill E.; Hilton, Emma; McKenzie, Edward A.; Kammerer, Richard A.; Lewis, Malcolm; Kerr, Bronwyn; Stuart, Helen; Donnai, Dian; Long, David A.; Burgu, Berk; Aydogdu, Ozgu; Derbent, Murat; Garcia-Minaur, Sixto; Reardon, Willie; Gener, Blanca; Shalev, Stavit; Smith, Rupert; Woolf, Adrian S.; Black, Graeme C.; Newman, William G.

    2010-01-01

    Urinary voiding dysfunction in childhood, manifesting as incontinence, dysuria, and urinary frequency, is a common condition. Urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of anatomical bladder outflow obstruction or overt neurological damage. UFS individuals often have reflux of infected urine from the bladder to the upper renal tract, with a risk of kidney damage and renal failure. Whole-genome SNP mapping in one affected individual defined an autozygous region of 16 Mb on chromosome 10q23-q24, within which a 10 kb deletion encompassing exons 8 and 9 of HPSE2 was identified. Homozygous exonic deletions, nonsense mutations, and frameshift mutations in five further unrelated families confirmed HPSE2 as the causative gene for UFS. Mutations were not identified in four additional UFS patients, indicating genetic heterogeneity. We show that HPSE2 is expressed in the fetal and adult central nervous system, where it might be implicated in controlling facial expression and urinary voiding, and also in bladder smooth muscle, consistent with a role in renal tract morphology and function. Our findings have broader implications for understanding the genetic basis of lower renal tract malformations and voiding dysfunction. PMID:20560210

  12. Mutations in HPSE2 cause urofacial syndrome.

    Science.gov (United States)

    Daly, Sarah B; Urquhart, Jill E; Hilton, Emma; McKenzie, Edward A; Kammerer, Richard A; Lewis, Malcolm; Kerr, Bronwyn; Stuart, Helen; Donnai, Dian; Long, David A; Burgu, Berk; Aydogdu, Ozgu; Derbent, Murat; Garcia-Minaur, Sixto; Reardon, Willie; Gener, Blanca; Shalev, Stavit; Smith, Rupert; Woolf, Adrian S; Black, Graeme C; Newman, William G

    2010-06-11

    Urinary voiding dysfunction in childhood, manifesting as incontinence, dysuria, and urinary frequency, is a common condition. Urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of anatomical bladder outflow obstruction or overt neurological damage. UFS individuals often have reflux of infected urine from the bladder to the upper renal tract, with a risk of kidney damage and renal failure. Whole-genome SNP mapping in one affected individual defined an autozygous region of 16 Mb on chromosome 10q23-q24, within which a 10 kb deletion encompassing exons 8 and 9 of HPSE2 was identified. Homozygous exonic deletions, nonsense mutations, and frameshift mutations in five further unrelated families confirmed HPSE2 as the causative gene for UFS. Mutations were not identified in four additional UFS patients, indicating genetic heterogeneity. We show that HPSE2 is expressed in the fetal and adult central nervous system, where it might be implicated in controlling facial expression and urinary voiding, and also in bladder smooth muscle, consistent with a role in renal tract morphology and function. Our findings have broader implications for understanding the genetic basis of lower renal tract malformations and voiding dysfunction.

  13. 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.

  14. Eagle Syndrome Causing Vascular Compression with Cervical Rotation: Case Report

    International Nuclear Information System (INIS)

    Demirtaş, Hakan; Kayan, Mustafa; Koyuncuoğlu, Hasan Rıfat; Çelik, Ahmet Orhan; Kara, Mustafa; Şengeze, Nihat

    2016-01-01

    Eagle syndrome is a condition caused by an elongated styloid process. Unilateral face, neck and ear pain, stinging pain, foreign body sensation and dysphagia can be observed with this syndrome. Rarely, the elongated styloid process may cause pain by compressing the cervical segment of the internal carotid and the surrounding sympathetic plexus, and that pain spreading along the artery can cause neurological symptoms such as vertigo and syncope. In this case report we presented a very rare eagle syndrome with neurological symptoms that occurred suddenly with cervical rotation. The symptoms disappeared as suddenly as they occurred, with the release of pressure in neutral position. We also discussed CT angiographic findings of this case. Radiological diagnosis of the Eagle syndrome that is manifested with a wide variety of symptoms and causes diagnostic difficulties when it is not considered in the differential diagnosis is easy in patients with specific findings. CT angiography is a fast and effective examination in terms of showing compression in patients with the Eagle syndrome that is considered to be atypical and causes vascular compression

  15. Causes, effects and therapy of radiophobie syndrome

    International Nuclear Information System (INIS)

    Becker, K.

    2005-01-01

    The basic symptoms and causes of the origination of radiophobie in Germany and other developed countries are considered. The economic and ecological consequences of the ideological antinuclear politics and the struggle against NPP are analyzed. The measures on overcoming radiophobie among population of developed countries are proposed. The particular attention for this problem solving is given to the position of mass media [ru

  16. Cirrhosis: CT and MR imaging evaluation

    International Nuclear Information System (INIS)

    Brancatelli, Giuseppe; Federle, Michael P.; Ambrosini, Roberta; Lagalla, Roberto; Carriero, Alessandro; Midiri, Massimo; Vilgrain, Valerie

    2007-01-01

    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

  17. 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.

  18. Mutations in ROGDI Cause Kohlschutter-Tonz Syndrome

    NARCIS (Netherlands)

    Schossig, A.; Wolf, N.I.; Fischer, C.; Fischer, M.; Stocker, G.; Pabinger, S.; Dander, A.; Steiner, B.; Tonz, O.; Kotzot, D.; Haberlandt, E.; Amberger, A.; Burwinkel, B.; Wimmer, K.; Fauth, C.; Grond-Ginsbach, C.; Koch, M.J.; Deichmann, A.; von Kalle, C.; Bartram, C.R.; Kohlschutter, A.; Trajanoski, Z.; Zschocke, J.

    2012-01-01

    Kohlschütter-Tönz syndrome (KTS) is an autosomal-recessive disease characterized by the combination of epilepsy, psychomotor regression, and amelogenesis imperfecta. The molecular basis has not yet been elucidated. Here, we report that KTS is caused by mutations in ROGDI. Using a combination of

  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 relevan...... rather than acute cardiac causes, primarily heart failure, whereas peri-procedural and deaths due to haemoptysis have become less common. Lifelong vigilance in tertiary centres and further research for ES are clearly needed....

  20. 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.

  1. Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.

    Science.gov (United States)

    Boyden, Lynn M; Kam, Chen Y; Hernández-Martín, Angela; Zhou, Jing; Craiglow, Brittany G; Sidbury, Robert; Mathes, Erin F; Maguiness, Sheilagh M; Crumrine, Debra A; Williams, Mary L; Hu, Ronghua; Lifton, Richard P; Elias, Peter M; Green, Kathleen J; Choate, Keith A

    2016-01-15

    Disorders of keratinization (DOK) show marked genotypic and phenotypic heterogeneity. In most cases, disease is primarily cutaneous, and further clinical evaluation is therefore rarely pursued. We have identified subjects with a novel DOK featuring erythrokeratodermia and initially-asymptomatic, progressive, potentially fatal cardiomyopathy, a finding not previously associated with erythrokeratodermia. We show that de novo missense mutations clustered tightly within a single spectrin repeat of DSP cause this novel cardio-cutaneous disorder, which we term erythrokeratodermia-cardiomyopathy (EKC) syndrome. We demonstrate that DSP mutations in our EKC syndrome subjects affect localization of desmosomal proteins and connexin 43 in the skin, and result in desmosome aggregation, widening of intercellular spaces, and lipid secretory defects. DSP encodes desmoplakin, a primary component of desmosomes, intercellular adhesion junctions most abundant in the epidermis and heart. Though mutations in DSP are known to cause other disorders, our cohort features the unique clinical finding of severe whole-body erythrokeratodermia, with distinct effects on localization of desmosomal proteins and connexin 43. These findings add a severe, previously undescribed syndrome featuring erythrokeratodermia and cardiomyopathy to the spectrum of disease caused by mutation in DSP, and identify a specific region of the protein critical to the pathobiology of EKC syndrome and to DSP function in the heart and skin. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  2. 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

  3. Primary CNS lymphoma as a cause of Korsakoff syndrome.

    Science.gov (United States)

    Toth, Cory; Voll, Chris; Macaulay, Robert

    2002-01-01

    Korsakoff syndrome presents with memory dysfunction with retrograde amnesia, anterograde amnesia, limited insight into dysfunction, and confabulation. The most common etiology of Korsakoff syndrome is thiamine deficiency secondary to alcoholism. There are limited case reports of structural lesions causing Korsakoff syndrome. A 46-year-old male with a long history of alcoholism presented with a history of confusion, amnesia, and confabulation with no localizing features on neurological examination. The patient showed no clinical change with intravenous thiamine. Computed tomography of the brain revealed a heterogenous, enhancing mass lesion centered within the third ventricle, with other lesions found throughout cortical and subcortical regions. The patient was given dexamethasone i.v. without noticeable clinical improvement but with marked radiological improvement with mass reduction. Stereotactic biopsy revealed a diagnosis of primary central nervous system (CNS) lymphoma. Most patients presenting with Korsakoff syndrome have thiamine deficiency; however, mass lesions can produce an identical clinical picture. This is the first case report of a patient with primary CNS lymphoma presenting as Korsakoff syndrome.

  4. 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. 

  5. Morvan syndrome: a rare cause of syndrome of inappropriate antidiuretic hormone secretion.

    Science.gov (United States)

    Demirbas, Seref; Aykan, Musa Baris; Zengin, Haydar; Mazman, Semir; Saglam, Kenan

    2017-01-01

    The syndrome of inappropriate antidiuretic hormone secretion (SIADH) accounts for an important part of hyponatremia cases. The causes of SIADH can be detected almost always. As a rare disorder, Morvan Syndrome can be defined by the sum of peripheral nerve hyperexcitability, autonomic instability and neuropsychiatric features. Antibodies to voltage-gated potassium channels (Anti - VGKC-Ab) including contactin associated protein-like 2 antibodies (CASPR2-Ab) and leucine-rich glioma inactivated protein 1 antibodies (LGI1-Ab) were previously known for the potential association with this condition. We present a Morvan Syndrome in a patient who presented with various neuropsychiatric symptoms and SIADH.

  6. Morvan syndrome: a rare cause of syndrome of inappropriate antidiuretic hormone secretion

    OpenAIRE

    DEMIRBAS, SEREF; AYKAN, MUSA BARIS; ZENGIN, HAYDAR; MAZMAN, SEMIR; SAGLAM, KENAN

    2017-01-01

    The syndrome of inappropriate antidiuretic hormone secretion (SIADH) accounts for an important part of hyponatremia cases. The causes of SIADH can be detected almost always. As a rare disorder, Morvan Syndrome can be defined by the sum of peripheral nerve hyperexcitability, autonomic instability and neuropsychiatric features. Antibodies to voltage-gated potassium channels (Anti ? VGKC-Ab) including contactin associated protein-like 2 antibodies (CASPR2-Ab) and leucine-rich glioma inactivated ...

  7. [A rare cause of oral pain: The pterygoid hamulus syndrome].

    Science.gov (United States)

    Bandini, M; Corre, P; Huet, P; Khonsari, R H

    2015-12-01

    Pterygoid hamulus syndrome (PHS) is a rare cause of orofacial and oropharyngeal pain. PHS can be associated with a hamulus hypertrophy or with a bursitis of the palatosalpingeus but it has not always an anatomic cause. A 36-year-old woman was seen for a constant posterior palatal pain spreading towards oropharynx, increasing during swallowing and lasting for more than 6 months. Physical examination showed an erythema of the soft palate, medially to the hamulus. Hamulus palpation was painful and revealed hamulus hypertrophia on both sides. A bilateral PHS was evocated. This observation is typical of a PHS. We propose a review of the literature of this little-known syndrome. Treatment is initially conservative (corticosteroids) but surgery can be proposed in case of morphological anomalies of the hamulus. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  8. Causes of death in 2877 patients with myelodysplastic syndromes.

    Science.gov (United States)

    Nachtkamp, Kathrin; Stark, Romina; Strupp, Corinna; Kündgen, Andrea; Giagounidis, Aristoteles; Aul, Carlo; Hildebrandt, Barbara; Haas, Rainer; Gattermann, Norbert; Germing, Ulrich

    2016-05-01

    Patients with myelodysplastic syndromes face a poor prognosis. The exact causes of death have not been described properly in the past. We performed a retrospective analysis of causes of death using data of 3792 patients in the Düsseldorf registry who have been followed up for a median time of 21 months. Medical files as well as death certificates were screened and primary care physicians were contacted. Death after AML evolution, infection, and bleeding was considered to be clearly disease-related. Further categories of causes of death were heart failure, other possibly disease-related reasons, such as hemochromatosis, disease-independent reasons as well as cases with unclear causes of death. Median age at the time of diagnosis was 71 years. At the time of analysis, 2877 patients (75.9 %) had deceased. In 1212 cases (42.1 %), the exact cause of death could not be ascertained. From 1665 patients with a clearly documented cause of death, 1388 patients (83.4 %) succumbed directly disease-related (AML (46.6 %), infection (27.0 %), bleeding (9.8 %)), whereas 277 patients (16.6 %) died for reasons not directly related with myelodysplastic syndromes (MDS), including 132 patients with cardiac failure, 77 non-disease-related reasons, 23 patients with solid tumors, and 45 patients with possibly disease-related causes like hemochromatosis. Correlation with IPSS, IPSS-R, and WPSS categories showed a proportional increase of disease-related causes of death with increasing IPSS/IPSS-R/WPSS risk category. Likewise, therapy-related MDS were associated with a higher percentage of disease-related causes of death than primary MDS. This reflects the increasing influence of the underlying disease on the cause of death with increasing aggressiveness of the disease.

  9. 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.

  10. 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

    2015-01-01

    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. PMID:26436113

  11. Bertolotti's syndrome. A cause of back pain in young people.

    Science.gov (United States)

    Quinlan, J F; Duke, D; Eustace, S

    2006-09-01

    Bertolotti's syndrome is characterised by anomalous enlargement of the transverse process(es) of the most caudal lumbar vertebra which may articulate or fuse with the sacrum or ilium and cause isolated L4/5 disc disease. We analysed the elective MR scans of the lumbosacral spine of 769 consecutive patients with low back pain taken between July 2003 and November 2004. Of these 568 showed disc degeneration. Bertolotti's syndrome was present in 35 patients with a mean age of 32.7 years (15 to 60). This was a younger age than that of patients with multiple disc degeneration, single-level disease and isolated disc degeneration at the L4/5 level (p Bertolotti's syndrome in our study was 4.6% (35 of 769). It was present in 11.4% (20 patients) of the under-30 age group. Our findings suggest that Bertolotti's syndrome must form part of a list of differential diagnoses in the investigation of low back pain in young people.

  12. Bladder distension as a cause of abdominal compartment syndrome

    International Nuclear Information System (INIS)

    Yasir, M.; Hoda, M.Q.

    2018-01-01

    Abdominal compartment syndrome (ACS) is increasingly identified in critically ill patient and its harmful effects are well documented. The disparity among the pressure, volume in abdominal cavity and its contents, results in ACS. The actual incidence of ACS is not known. However, it has been observed predominantly in patients with severe blunt and penetrating abdominal trauma, ruptured abdominal aortic aneurysms, retro- and intra-peritoneal hemorrhage, pneumoperitoneum, neoplasm, pancreatitis, ascites and multiple bone fracture. We present a case of 40-year female who underwent emergency cesarean section and developed abdominal compartment syndrome due to urinary bladder distension secondary to blockade of urinary catheter with blood clots. This is a very unusual cause of ACS. (author)

  13. A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome)

    NARCIS (Netherlands)

    Rump, P.; Niessen, R. C.; Verbruggen, K. T.; Brouwer, O. F.; de Raad, M.; Hordijk, R.

    Opitz-Kaveggia syndrome is a rare X-linked multiple congenital anomalies and intellectual disability disorder caused by the recurrent p.R961W mutation in the MED12 gene. Twenty-three affected males from 10 families with this mutation in the MED12 gene have been described so far. Here we report on a

  14. [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.

  15. Os acromiale causing shoulder impingement syndrome: a case report

    International Nuclear Information System (INIS)

    Romero, I.; Rodriguez, A.; Roca, M.; Garcia, Y.

    2001-01-01

    Shoulder impingement syndrome is caused by repeated mechanical trauma to the rotator cuff due to encroachment of the coracoacromial ligament; in most cases, it is a primary lesion. Os acromiale, an anatomic variant of the shoulder structures, is one of the predisposing factors for the development of this entity. We present a case of os acromiale complicated by complete rupture of the tendon of the supraspinatus muscle and luxation of the long head of the biceps tendon. We stress the importance of magnetic resonance in the study of this anatomic variant and in the detection of complications or associated lesions. (Author) 10 refs

  16. 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.

  17. Proteus syndrome: A rare cause of gigantic limb.

    Science.gov (United States)

    Chakrabarti, Nandini; Chattopadhyay, Chandan; Bhuban, Majhi; Pal, Salil Kumar

    2014-04-01

    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.

  18. 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

    2010-12-10

    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. Copyright © 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  19. 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.

  20. 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.

  1. Hypokalemia causing rhabdomyolysis in a patient with short bowel syndrome.

    Science.gov (United States)

    Balhara, Kamna S; Highet, Bridget; Omron, Rodney

    2015-04-01

    Rhabdomyolysis, usually in the setting of trauma or drug use, is frequently seen in the emergency setting, and often leads to hyperkalemia at presentation. Hypokalemia, however, is a potentially underrecognized cause of rhabdomyolysis. We present a case of rhabdomyolysis likely due to hypokalemia in the setting of short bowel syndrome. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Although less common, hypokalemia can be a significant cause of rhabdomyolysis via its effects on muscle. This scenario should be considered in the differential diagnosis of patients at risk for hypokalemia who present with weakness. Rapid recognition of this relationship and rapid correction of hypokalemia may prove very important in preventing the deleterious effects of rhabdomyolysis. Copyright © 2015 Elsevier Inc. All rights reserved.

  2. 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.

  3. The Mirizzi syndrome: an uncommon cause of obstructive jaundice

    International Nuclear Information System (INIS)

    Marco, S.F.; Piqueras, R.M.; Jornet, J.; Gil, S.; Ambit, S.; Cervera, J.

    1997-01-01

    The Mirizzi syndromes involves obstruction of the common hepatic duct by a gallstone impacted in the bladder neck or in the cystic duct. It is accompanied by and inflammatory reaction that usually produces a biliary fistula. On rare occasions, this disorder can lead to obstructive jaundice. We reviewed nine cases of Mirizzi syndrome, comparing the findings according to different imaging techniques. All the patients underwent ultrasound study, three were assessed by computerized tomography (CT) and three by transhepatic cholangiography (THC). In eight patients, the diagnosis was confirmed intraoperatively: the remaining patient was diagnosed on the basis of the clinical evidence of obstructive jaundice, ultrasound and THC. In eight patients, ultrasound disclosed dilation of the intrahepatic bile duct. Scleroatrophic bladder with a large stone in the infundibular zone was observed in five cases, and numerous small calculi were found in the remaining four patients, two of whom presented thickening of the bladder walls: the walls were normal in the other two. Pneumobilia was observed one case. CT revealed dilation of the intrahepatic bile duct in all three cases in which it was performed. A cavity containing a calculus was observed in one case and pneumobilia in another. THC disclosed dilation of the intrahepatic bile duct and a lateral filling defect in the common hepatic duct in all three patients in whom it was performed. Two patients were found to have cholecystocholedochal fistulas. The Mirizzi syndrome should be suspected when a scleroatrophic gallbladder or gallstones compress the common hepatic duct, causing proximal, but not distal, bile duct dilation. In these case, THC should be carried out to confirm the diagnosis and determine whether or not a fistula is present since the surgical treatment varies depending on the existence of fistulas and their location. (Author) 15 refs

  4. 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.

  5. GNB3 overexpression causes obesity and metabolic syndrome.

    Directory of Open Access Journals (Sweden)

    Alev Cagla Ozdemir

    Full Text Available 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.

  6. 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.

  7. De novo SOX11 mutations cause Coffin-Siris syndrome.

    Science.gov (United States)

    Tsurusaki, Yoshinori; Koshimizu, Eriko; Ohashi, Hirofumi; Phadke, Shubha; Kou, Ikuyo; Shiina, Masaaki; Suzuki, Toshifumi; Okamoto, Nobuhiko; Imamura, Shintaro; Yamashita, Michiaki; Watanabe, Satoshi; Yoshiura, Koh-ichiro; Kodera, Hirofumi; Miyatake, Satoko; Nakashima, Mitsuko; Saitsu, Hirotomo; Ogata, Kazuhiro; Ikegawa, Shiro; Miyake, Noriko; Matsumoto, Naomichi

    2014-06-02

    Coffin-Siris syndrome (CSS) is a congenital disorder characterized by growth deficiency, intellectual disability, microcephaly, characteristic facial features and hypoplastic nails of the fifth fingers and/or toes. We previously identified mutations in five genes encoding subunits of the BAF complex, in 55% of CSS patients. Here we perform whole-exome sequencing in additional CSS patients, identifying de novo SOX11 mutations in two patients with a mild CSS phenotype. sox11a/b knockdown in zebrafish causes brain abnormalities, potentially explaining the brain phenotype of CSS. SOX11 is the downstream transcriptional factor of the PAX6-BAF complex, highlighting the importance of the BAF complex and SOX11 transcriptional network in brain development.

  8. Inflammatory peeling skin syndrome caused a novel mutation in CDSN.

    Science.gov (United States)

    Telem, Dana Fuchs; Israeli, Shirli; Sarig, Ofer; Sprecher, Eli

    2012-04-01

    Generalized peeling skin syndrome (PSS) is a rare autosomal recessive dermatosis manifesting with continuous exfoliation of the stratum corneum. The inflammatory (type B) subtype of PSS was recently found to be caused by deleterious mutations in the CDSN gene encoding corneodesmosin, a major component of desmosomal junctions in the uppermost layers of the epidermis. In the present study, we assessed a 10-month-old baby, who presented with generalized superficial peeling of the skin. Using PCR amplification and direct sequencing, we identified the third PSS-associated mutation in CDSN, a homozygous 4 bp duplication in the second exon of the gene (c.164_167dup GCCT; p.Thr57ProfsX6). These data further support the notion that corneodesmosin deficiency impairs cell-cell adhesion in the upper epidermis, paving the way for an abnormal inflammatory response due to epidermal barrier disruption.

  9. 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.

  10. A Novel Mutation in ERCC8 Gene 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.

  11. Disturbances Caused by Premenstrual Syndrome among College Female Students

    OpenAIRE

    北村, 陽英; 内, さゆり

    2002-01-01

    Using a questionnaire which asseses premenstrual syndrome and dysmenorrhea symptoms, we investigated 308 college female students in December, 2001. Ninety-nine percent of these students were suffering from premenstrual syndrome, and all students were suffering from dysmenorrhea symptoms. Comparing symtoms of premenstrual syndrome with dysmenorrhea, there are a lot of somatic symptoms in both conditions, but premenstrual syndrome has more mental symptoms than dysmenorrhea. Symptomatically, it ...

  12. Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF

    OpenAIRE

    Smith, S.; Kelley, P.; Kenyon, J.; Hoover, D.

    2000-01-01

    Patients with Tietz syndrome have congenital profound deafness and generalised hypopigmentation, inherited in a fully penetrant autosomal dominant fashion. The pigmentary features and complete penetrance make this syndrome distinct among syndromes with pigmentary anomalies and deafness, which characteristically have patchy depigmentation and variable penetrance. Only one family has been reported with the exact features described in the original report of this syndrome. This family was reascer...

  13. 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.

  14. A rare cause of pericardial effusion and ascites: POEMS syndrome

    Directory of Open Access Journals (Sweden)

    Bilal Katipoglu

    2017-12-01

    Full Text Available POEMS syndrome is an important paraneoplastic syndrome associated with multisystem involvement. Extravascular volume overload like pericardial effusion and ascites has a broad differential diagnosis. In addition, it may be initial presentation of disease. For that reason, this case report is highlight to warn of different forms of presentation of poems syndrome.

  15. 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.

  16. The superior vena cava syndrome caused by malignant disease

    International Nuclear Information System (INIS)

    Eren, Suat; Karaman, Adem; Okur, Adnan

    2006-01-01

    Objective: The superior vena cava (SVC) obstruction by malignant diseases is either by direct invasion and compression or by tumour thrombus of the SVC. Whatever is its cause, obstruction of the SVC causes elevated pressure in the veins draining into the SVC and increased or reversed blood flow through collateral vessels. Severity of the syndrome depends on the collateral vascular system development. Therefore, imaging of the collateral veins with variable location and connection is important in determining the extension and management of the disease. Our aims are to describe collateral vessels of the superior vena cava syndrome (SVCS) related with the malignant diseases and to assess the ability of multi-detector row CT with multiplanar and 3D volume rendering techniques in determining and describing collateral circulations. Materials and methods: We present CT angiography findings of seven patients with small cell carcinoma of the lung (n = 2), squamous cell carcinoma of the lung (n = 3), Hodgkin disease of the thorax (n = 1), and squamous cell carcinoma of the oesophagus (n = 1). The patients received contrast-enhanced CT scans of the chest and abdomen on a multi-detector row CT during breath holding at suspended inspiration. Results: CT images revealed the cause and level of the SVC obstruction in all patients with axial and multiplanar reconstructed images. The SVC showed total obstruction in five patients and partial obstruction in two patients. The most common experienced collateral vessels were azygos vein (6), intercostal veins (6), mediastinal veins (6), paravertebral veins (5), hemiazygos vein (5), thoracoepigastric vein (5), internal mammary vein (5), thoracoacromioclavicular venous plexus (5), and anterior chest wall veins (5). While one case showed the portal-systemic shunt, V. cordis media and sinus coronarius with phrenic veins were enlarged in two cases, and the left adrenal vein was enlarged in a patient. In one case, the azygos vein with reversed

  17. The superior vena cava syndrome caused by malignant disease

    Energy Technology Data Exchange (ETDEWEB)

    Eren, Suat [Department of Radiology, Faculty of Medicine, Atatuerk University, 25240 Erzurum (Turkey)]. E-mail: suateren@atauni.edu.tr; Karaman, Adem [Department of Radiology, Faculty of Medicine, Atatuerk University, 25240 Erzurum (Turkey); Okur, Adnan [Department of Radiology, Faculty of Medicine, Atatuerk University, 25240 Erzurum (Turkey)

    2006-07-15

    Objective: The superior vena cava (SVC) obstruction by malignant diseases is either by direct invasion and compression or by tumour thrombus of the SVC. Whatever is its cause, obstruction of the SVC causes elevated pressure in the veins draining into the SVC and increased or reversed blood flow through collateral vessels. Severity of the syndrome depends on the collateral vascular system development. Therefore, imaging of the collateral veins with variable location and connection is important in determining the extension and management of the disease. Our aims are to describe collateral vessels of the superior vena cava syndrome (SVCS) related with the malignant diseases and to assess the ability of multi-detector row CT with multiplanar and 3D volume rendering techniques in determining and describing collateral circulations. Materials and methods: We present CT angiography findings of seven patients with small cell carcinoma of the lung (n = 2), squamous cell carcinoma of the lung (n = 3), Hodgkin disease of the thorax (n = 1), and squamous cell carcinoma of the oesophagus (n = 1). The patients received contrast-enhanced CT scans of the chest and abdomen on a multi-detector row CT during breath holding at suspended inspiration. Results: CT images revealed the cause and level of the SVC obstruction in all patients with axial and multiplanar reconstructed images. The SVC showed total obstruction in five patients and partial obstruction in two patients. The most common experienced collateral vessels were azygos vein (6), intercostal veins (6), mediastinal veins (6), paravertebral veins (5), hemiazygos vein (5), thoracoepigastric vein (5), internal mammary vein (5), thoracoacromioclavicular venous plexus (5), and anterior chest wall veins (5). While one case showed the portal-systemic shunt, V. cordis media and sinus coronarius with phrenic veins were enlarged in two cases, and the left adrenal vein was enlarged in a patient. In one case, the azygos vein with reversed

  18. Cardiovascular causes of maternal sudden death. Sudden arrhythmic death syndrome is leading cause in UK.

    Science.gov (United States)

    Krexi, Dimitra; Sheppard, Mary N

    2017-05-01

    This study aims to determine the causes of sudden cardiac death during pregnancy and in the postpartum period and patients' characteristics. There are few studies in the literature. Eighty cases of sudden unexpected death due to cardiac causes in relation to pregnancy and postpartum period in a database of 4678 patients were found and examined macroscopically and microscopically. The mean age was 30±7 years with a range from 16 to 43 years. About 30% were 35 years old or older; 50% of deaths occurred during pregnancy and 50% during the postpartum period. About 59.18% were obese or overweight where body mass index data were available. The leading causes of death were sudden arrhythmic death syndrome (SADS) (53.75%) and cardiomyopathies (13.80%). Other causes include dissection of aorta or its branches (8.75%), congenital heart disease (2.50%) and valvular disease (3.75%). This study highlights sudden cardiac death in pregnancy or in the postpartum period, which is mainly due to SADS with underlying channelopathies and cardiomyopathy. We wish to raise awareness of these frequently under-recognised entities in maternal deaths and the need of cardiological screening of the family as a result of the diagnosis. Copyright © 2017 Elsevier B.V. All rights reserved.

  19. 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...

  20. 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

  1. 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

  2. Report of a case of paroxysmal nocturnal hemoglobinuria (PNH) with complex evolution and liver transplant

    OpenAIRE

    Alencar,Railene Célia B.; Guimarães,Andréa M.; Brito Junior,Lacy C.

    2016-01-01

    ABSTRACT The paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired disease, with thrombotic episodes and frequent pancytopenia. We report the case of a 32 year-old female PNH patient with bone marrow aplasia, which followed a complex course, diagnosed with aplastic anemia associated with PNH, evolving in three years with Budd-Chiari syndrome and liver transplantation. Post-transplant complications, hepatic arterial thrombosis, graft rejection, liver retransplantation and treatment of P...

  3. Cor triatriatum dexter in a dog

    International Nuclear Information System (INIS)

    Brayley, K.A.; Lunney, J.; Ettinger, S.J.

    1994-01-01

    A six-year-old, spayed, female German shepherd dog cross was evaluated for distention of the caudal vena cava. Differential diagnoses included right heart defects and Budd-Chiari type lesions. Radiography, echocardiography, cardiac catheterization, and angiography demonstrated cor triatriatum dexter. This rare congenital anomaly of the right atrium has been described previously in veterinary patients with a right heart failure syndrome. This dog was asymptomatic, therefore, surgical correction was not undertaken

  4. A rare cause of tall stature: Sotos syndrome

    Directory of Open Access Journals (Sweden)

    Nagehan Aslan

    2014-12-01

    Full Text Available Sotos syndrome is an excessive growth syndrome and is characterized by macrocephaly, typical facial appearance and mental retardation. The majority of cases are sporadic, autosomal dominant inheritance pattern matching families have been reported. Syndrome responsible for gen encodes the nuclear receptor-binding SET domain1 (NSD1 protein. This rare genetic syndrome firstly described by Sotos et al. in 1964 at five cases with excessive height, acromegalic appearance and mild mental retardation. Hairline high forehead, macrocephaly, frontal bossing, long and thin face, frontotemporal hair sparseness, down slanting palpebral fissures and prominent mandible creating characteristic facial appearance and advanced bone age and varying degrees of mental retardation are other diagnostic criteria. Cardiovascular, central nervous system and genitourinary system anomalies may be associated with syndrome. In this case report we presenting a case who admitted to our clinic because of the rapid growth and mild mental retardation and diagnosed with Sotos syndrome for emphasize the importance of growth monitoring.

  5. YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

    DEFF Research Database (Denmark)

    Gabriele, Michele; Vulto-van Silfhout, Anneke T; Germain, Pierre-Luc

    2017-01-01

    that define a syndrome of cognitive impairment, behavioral alterations, intrauterine growth restriction, feeding problems, and various congenital malformations. Our combined clinical and molecular data define "YY1 syndrome" as a haploinsufficiency syndrome. Through immunoprecipitation of YY1-bound chromatin...... on the YY1-bound enhancers, underscoring a crucial role for YY1 in enhancer regulation. Collectively, these results define a clinical syndrome caused by haploinsufficiency of YY1 through dysregulation of key transcriptional regulators....

  6. Schmidt's syndrome: a rare cause of puberty menorrhagia.

    Science.gov (United States)

    Sharma, J B; Tiwari, S; Gulati, N; Sharma, S

    1990-12-01

    Schmidt's syndrome, also known as polyglandular deficiency syndrome, is the presence of Addison's disease and hypothyrodism in a single patient. It is usually associated with other autoimmune disorders like vitiligo, diabetes mellitus, myasthenia gravis. A rare case of an 18-year-old girl having Schmidt's syndrome and vitiligo who presented with puberty menorrhagia is reported. A brief review of the literature is also given.

  7. 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

  8. 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 ...

  9. 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

  10. 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

    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...... and for diagnosis of Lynch syndrome, and perhaps other hereditary diseases....

  11. Food protein induced enterocolitis syndrome caused by rice beverage.

    Science.gov (United States)

    Caminiti, Lucia; Salzano, Giuseppina; Crisafulli, Giuseppe; Porcaro, Federica; Pajno, Giovanni Battista

    2013-05-14

    Food protein-induced enterocolitis syndrome (FPIES) is an uncommon and potentially severe non IgE-mediated gastrointestinal food allergy. It is usually caused by cow's milk or soy proteins, but may also be triggered by ingestion of solid foods. The diagnosis is made on the basis of clinical history and symptoms. Management of acute phase requires fluid resuscitation and intravenous steroids administration, but avoidance of offending foods is the only effective therapeutic option.Infant with FPIES presented to our emergency department with vomiting, watery stools, hypothension and metabolic acidosis after ingestion of rice beverage. Intravenous fluids and steroids were administered with good clinical response. Subsequently, a double blind placebo control food challenge (DBPCFC) was performed using rice beverage and hydrolyzed formula (eHF) as placebo. The "rice based formula" induced emesis, diarrhoea and lethargy. Laboratory investigations reveal an increase of absolute count of neutrophils and the presence of faecal eosinophils. The patient was treated with both intravenous hydration and steroids. According to Powell criteria, oral food challenge was considered positive and diagnosis of FPIES induced by rice beverage was made. Patient was discharged at home with the indication to avoid rice and any rice beverage as well as to reintroduce hydrolyzed formula. A case of FPIES induced by rice beverage has never been reported. The present case clearly shows that also beverage containing rice proteins can be responsible of FPIES. For this reason, the use of rice beverage as cow's milk substitute for the treatment of non IgE-mediated food allergy should be avoided.

  12. Novel CLCNKB mutations causing Bartter syndrome affect channel surface expression.

    Science.gov (United States)

    Keck, Mathilde; Andrini, Olga; Lahuna, Olivier; Burgos, Johanna; Cid, L Pablo; Sepúlveda, Francisco V; L'hoste, Sébastien; Blanchard, Anne; Vargas-Poussou, Rosa; Lourdel, Stéphane; Teulon, Jacques

    2013-09-01

    Mutations in the CLCNKB gene encoding the ClC-Kb Cl(-) channel cause Bartter syndrome, which is a salt-losing renal tubulopathy. Here, we investigate the functional consequences of seven mutations. When expressed in Xenopus laevis oocytes, four mutants carried no current (c.736G>C, p.Gly246Arg; c.1271G>A, p.Gly424Glu; c.1313G>A, p.Arg438His; c.1316T>C, p.Leu439Pro), whereas others displayed a 30%-60% reduction in conductance as compared with wild-type ClC-Kb (c.242T>C, p.Leu81Pro; c.274C>T, p.Arg92Trp; c.1052G>C, p.Arg351Pro). Anion selectivity and sensitivity to external Ca(2+) and H(+), typical of the ClC-Kb channel, were not modified in the partially active mutants. In oocytes, we found that all the mutations reduced surface expression with a profile similar to that observed for currents. In HEK293 cells, the currents in the mutants had similar profiles to those obtained in oocytes, except for p.Leu81Pro, which produced no current. Furthermore, p.Arg92Trp and p.Arg351Pro mutations did not modify the unit-conductance of closely related ClC-K1. Western blot analysis in HEK293 cells showed that ClC-Kb protein abundance was lower for the nonconducting mutants but similar to wild-type for other mutants. Overall, two classes of mutants can be distinguished: nonconducting mutants associated with low total protein expression, and partially conducting mutants with unaltered channel properties and ClC-Kb protein abundance. © 2013 WILEY PERIODICALS, INC.

  13. Eosinophilic cellulitis (Wells’ syndrome) caused by a temporary henna tattoo

    Science.gov (United States)

    Celegen, Mehmet; Karkıner, Canan Sule Unsal; Günay, Ilker; Diniz, Güllden; Can, Demet

    2014-01-01

    Eosinophilic cellulitis (Wells’ syndrome) is an uncommon condition of unknown etiology. Wells’ syndrome is usually seen in adulthood but very rare in childhood. Although pathogenesis of the disease is not very clear, it is a hypersensitivity reaction developing against a variety of exogenous and endogenous antigenic stimuli. Paraphenylenediamine is a strong allergen frequently used as a temporary henna tattoo, which makes the color darker. Here, a 9-year-old male patient with Wells’ syndrome is presented, which developed following a temporary henna tattoo and shown by the patch test sensitivity to paraphenylenediamine. PMID:25395929

  14. 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.

  15. 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

  16. 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.

  17. Elsberg syndrome: A rarely recognized cause of cauda equina syndrome and lower thoracic myelitis.

    Science.gov (United States)

    Savoldi, Filippo; Kaufmann, Timothy J; Flanagan, Eoin P; Toledano, Michel; Weinshenker, Brian G

    2017-07-01

    Elsberg syndrome (ES) is an established but often unrecognized cause of acute lumbosacral radiculitis with myelitis related to recent herpes virus infection. We defined ES, determined its frequency in patients with cauda equina syndrome (CES) with myelitis, and evaluated its clinical, radiologic, and microbiologic features and outcomes. We searched the Mayo Clinic medical records for ES and subsequently for combinations of index terms to identify patients with suspected CES and myelitis. Our search yielded 30 patients, 2 diagnosed with ES and an additional 28 with clinical or radiologic evidence of CES retrospectively suspected of having ES. We classified patients in 5 groups according to diagnostic certainty. MRI and EMG confirmed that 2 had only myelitis, 5 only radiculitis, and 16 both. Two had preceding sacral herpes infection and 1 oral herpes simplex. Spinal cord lesions were commonly multiple, discontinuous, not expansile, and centrally or ventrally positioned. Lesions generally spared the distal conus. Nerve root enhancement was occasionally prominent and was smooth rather than nodular. Lymphocytic CSF pleocytosis was common. Thirteen patients (43%) had viral isolation studies, which were commonly delayed; the delay may have accounted for the low rate of viral detection. Acyclovir was administered to 6 patients. Most patients recovered with sequelae; 1 patient experienced encephalomyelitis and died. ES is a definable condition likely responsible for 10% of patients with combined CES and myelitis. Radiologic findings are not entirely specific but may help in differentiating ES from some competing diagnostic considerations. We propose criteria to facilitate diagnosis.

  18. Mutations in the G6PC3 gene cause Dursun syndrome.

    Science.gov (United States)

    Banka, Siddharth; Newman, William G; Ozgül, R Koksal; Dursun, Ali

    2010-10-01

    Dursun syndrome is a triad of familial primary pulmonary hypertension, leucopenia, and atrial septal defect. Here we demonstrate that mutations in G6PC3 cause Dursun syndrome. Mutations in G6PC3 are known to also cause severe congenital neutropenia type 4. Identification of the genetic basis of Dursun syndrome expands the pre-existing knowledge about the phenotypic effects of mutations in G6PC3. We propose that Dursun syndrome should now be considered as a subset of severe congenital neutropenia type 4 with pulmonary hypertension as an important clinical feature. Copyright © 2010 Wiley-Liss, Inc.

  19. 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

    2017-11-01

    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.

  20. 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.

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

    OpenAIRE

    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.

    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 cholestero...

  2. 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.

  3. A black adrenocortical adenoma causing Cushing's syndrome not imaged by radiocholesterol scintigraphy

    International Nuclear Information System (INIS)

    Reschini, E.; Baldini, M.; Cantalamessa, L.

    1990-01-01

    In a 33-year-old female patient with left adrenal tumour and Cushing's syndrome, adrenocortical scintigraphy with radiocholesterol did not image the tumour nor the suppressed contralateral gland. Histology showed a black adrenocortical adenoma composed only of compact cells; there was no evidence of malignancy. This demonstrates that non-visualization of the adrenal glands in a patient with Cushing's syndrome is not invariably due to adrenal carcinoma. The literature on black adrenal adenomas causing Cushing's syndrome is reviewed. (orig.)

  4. Mounier-Kuhn syndrome: a rare cause of bronchial dilation.

    Science.gov (United States)

    Celik, Burcin; Bilgin, Salih; Yuksel, Canan

    2011-01-01

    Mounier-Kuhn syndrome, or tracheobronchomegaly, is a rare clinical and radiologic condition characterized by marked tracheobronchial dilation and recurrent lower respiratory tract infections. Diagnosis is typically accomplished with the use of computed tomography and bronchoscopy, as well as pulmonary function testing. Patients may be asymptomatic; however, symptoms can range from minimal with preserved lung function to severe respiratory failure. Therapy, if any, is supportive but minimal. Surgery rarely has a place in the treatment of Mounier-Kuhn syndrome.Herein, we report the case of a 58-year-old man with chronic obstructive pulmonary disease who had a chronic cough, increased sputum production, and chest pain. Thoracic computed tomography showed tracheal dilation (diameter, 34 mm) and multiple diverticula in the posterior region of the trachea. Fiberoptic bronchoscopy revealed enlarged main bronchi, the dilated trachea, and prominent tracheal diverticula. Pulmonary function testing disclosed impaired respiratory function. Histopathologic examination of biopsy specimens from the bronchi and the tracheal wall supported the diagnosis of Mounier-Kuhn syndrome. The patient was released from the hospital and his condition was monitored for 2 years, during which time he developed no lower respiratory tract infections.Regardless of radiologic findings that suggest recurrent lower respiratory tract infection, we recommend that Mounier-Kuhn syndrome be considered in the differential diagnosis.

  5. 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.

  6. 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

  7. 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, IJ; 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

  8. A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.

    NARCIS (Netherlands)

    Schalkwijk, J.; Zweers, M.C.; Steijlen, P.M.; Dean, W.B.; Taylor, G.; Vlijmen-Willems, I.M.J.J. van; Haren, B. van; Miller, W.L.; Bristow, J.

    2001-01-01

    BACKGROUND: The Ehlers-Danlos syndrome is a heritable connective-tissue disorder caused by defects in fibrillar-collagen metabolism. Mutations in the type V collagen genes account for up to 50 percent of cases of classic Ehlers-Danlos syndrome, but many other cases are unexplained. We investigated

  9. Anticholinergic Toxic Syndrome Caused by Atropa Belladonna Fruit (Deadly Nightshade): A Case Report

    Science.gov (United States)

    Demirhan, Abdullah; Tekelioğlu, Ümit Yaşar; Yıldız, İsa; Korkmaz, Tanzer; Bilgi, Murat; Akkaya, Akcan; Koçoğlu, Hasan

    2013-01-01

    Atropa Belladonna poisoning may lead to anticholinergic syndrome. Ingestion of high amounts of the plant may cause lethargy, coma, and even a serious clinical picture leading to death. In this case report, we aimed to present a case with anticholinergic syndrome that developed after ingestion of the fruit called “Deadly Nightshade” in our country. PMID:27366377

  10. Review and update of mutations causing Waardenburg syndrome.

    Science.gov (United States)

    Pingault, Véronique; Ente, Dorothée; Dastot-Le Moal, Florence; Goossens, Michel; Marlin, Sandrine; Bondurand, Nadège

    2010-04-01

    Waardenburg syndrome (WS) is characterized by the association of pigmentation abnormalities, including depigmented patches of the skin and hair, vivid blue eyes or heterochromia irides, and sensorineural hearing loss. However, other features such as dystopia canthorum, musculoskeletal abnormalities of the limbs, Hirschsprung disease, or neurological defects are found in subsets of patients and used for the clinical classification of WS. Six genes are involved in this syndrome: PAX3 (encoding the paired box 3 transcription factor), MITF (microphthalmia-associated transcription factor), EDN3 (endothelin 3), EDNRB (endothelin receptor type B), SOX10 (encoding the Sry bOX10 transcription factor), and SNAI2 (snail homolog 2), with different frequencies. In this review we provide an update on all WS genes and set up mutation databases, summarize molecular and functional data available for each of them, and discuss the applications in diagnostics and genetic counseling. (c) 2010 Wiley-Liss, Inc.

  11. AORTIC ANEURYSM: A RARE CAUSE OF ORTNER’S SYNDROME

    OpenAIRE

    Sukanta; Biswal Pradipta; Swetapadma; Jyoti; Manoranjan

    2014-01-01

    A 60 year old male patient presented with hoarseness of voice lasting for 2 months. First he was examined by the otorhinolaryngologist of our hospital, who noticed absence of movements of the left vocal cord. Chest X-ray showed a large opacity in the left upper zone and the patient was referred to the pulmonologist. His general physical examination was unremarkable not having any stigmata of Marfan's or Ehler Danlos syndrome. On chest auscultation, a systolic flow murmur was ...

  12. Fetal alcohol syndromecauses, diagnostic criteria and prevalence

    OpenAIRE

    Agata Horecka-Lewitowicz; Piotr Lewitowicz; Olga Adamczyk-Gruszka; Dariusz Skawiński; Monika Szpringer

    2014-01-01

    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 ...

  13. Diencephalic syndrome: a rare cause of failure to thrive.

    Science.gov (United States)

    Tosur, Mustafa; Tomsa, Anca; Paul, David L

    2017-07-06

    Timely diagnosis of diencephalic syndrome is not often the case for patients presenting with failure to thrive (FTT) because of its rarity and lack of specific symptoms. Herein, we report two cases of diencephalic syndrome (2-year-old girl and 10-month-old boy) presenting with severe emaciation. Both patients had histories of poor weight gain for months despite having good appetites prior to diagnosis. Initial work-up did not reveal the diagnosis. Horizontal nystagmus was noted in both patients: by a neurologist in the first patient and by a family member in the second patient. MRI of the brain showed large suprasellar mass and pilocytic astrocytoma was confirmed by pathology in each case. The patients were started on appropriate chemotherapy with interval improvements in weight gain. These cases illustrate the importance of cranial imaging and consideration of diencephalic syndrome for children presenting with FTT despite normal or increased caloric intake. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  14. 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

  15. Trigger wrist and carpal tunnel syndrome caused by hand intramuscular intrasynovial angiofibrolipoma: A rare case report

    Directory of Open Access Journals (Sweden)

    Turan C Dulgeroglu

    2016-08-01

    Full Text Available Trigger wrist is a clinical entity characterized by triggering or the crackling of the wrist. Here, a case is reported of intrasynovial angiofibrolipoma that caused trigger wrist and carpal tunnel syndrome. This is the only case report where trigger wrist and carpal tunnel syndrome caused by the intrasynovial angiofibrolipoma were developed simultaneously. it is believed that that adhesive tenosynovitis developing in the tendons may have contributed to the triggering and carpal tunnel syndrome in the wrist as a result of inflammation occuring as a consequence of intrasynovial angiofibrolipoma. [Hand Microsurg 2016; 5(2.000: 107-109

  16. Churg-Strauss syndrome: A rare cause of pleural effusion

    Directory of Open Access Journals (Sweden)

    Govind Singh Rajawat

    2016-01-01

    Full Text Available Churg-Strauss syndrome (CSS is a rare, small-vessel vasculitis associated with a prominent allergic component, asthma, and blood or tissue eosinophilia. Granulomas, eosinophils, and palisading histiocytes in extravascular tissues are hallmarks of this disorder. The presence of asthma or allergy as well as more than 10% of eosinophils in blood is 95% sensitive and 99% specific, respectively, in distinguishing CSS among a subgroup of patients with well-documented systemic vasculitis. We present a case of pleural effusion which was finally diagnosed as CSS. Considering its rarity, this case is reported.

  17. Rituximab as a possible cause of posterior reversible encephalopathy syndrome

    Directory of Open Access Journals (Sweden)

    Ahmed Imran Siddiqi

    2011-09-01

    Full Text Available A 66-year-old woman presented with new onset generalisedtonic-clonic seizures following her first dose ofchemotherapy comprising Rituximab, Cyclophosphamide,Hydroxydaunorubicin, Oncovin and Prednisolone (R-CHOP10 days earlier for non-Hodgkin’s lymphoma. On admission,computed tomography (CT scan of the cranium showed noabnormality. The CT was repeated within 48 hours as thepatient developed status epilepticus and papilledema; therepeat scan showed characteristics of posterior reversibleencephalopathy syndrome (PRES. Association of rituximabwith this condition was suspected as there was norecurrence of PRES after receiving two more cycles of CHOPwithout rituximab. Contrary to previously published casereports, this patient had a delayed clinical presentation.

  18. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

    Science.gov (United States)

    Aoki, Yoko; Niihori, Tetsuya; Banjo, Toshihiro; Okamoto, Nobuhiko; Mizuno, Seiji; Kurosawa, Kenji; Ogata, Tsutomu; Takada, Fumio; Yano, Michihiro; Ando, Toru; Hoshika, Tadataka; Barnett, Christopher; Ohashi, Hirofumi; Kawame, Hiroshi; Hasegawa, Tomonobu; Okutani, Takahiro; Nagashima, Tatsuo; Hasegawa, Satoshi; Funayama, Ryo; Nagashima, Takeshi; Nakayama, Keiko; Inoue, Shin-Ichi; Watanabe, Yusuke; Ogura, Toshihiko; Matsubara, Yoichi

    2013-07-11

    RAS GTPases mediate a wide variety of cellular functions, including cell proliferation, survival, and differentiation. Recent studies have revealed that germline mutations and mosaicism for classical RAS mutations, including those in HRAS, KRAS, and NRAS, cause a wide spectrum of genetic disorders. These include Noonan syndrome and related disorders (RAS/mitogen-activated protein kinase [RAS/MAPK] pathway syndromes, or RASopathies), nevus sebaceous, and Schimmelpenning syndrome. In the present study, we identified a total of nine missense, nonsynonymous mutations in RIT1, encoding a member of the RAS subfamily, in 17 of 180 individuals (9%) with Noonan syndrome or a related condition but with no detectable mutations in known Noonan-related genes. Clinical manifestations in the RIT1-mutation-positive individuals are consistent with those of Noonan syndrome, which is characterized by distinctive facial features, short stature, and congenital heart defects. Seventy percent of mutation-positive individuals presented with hypertrophic cardiomyopathy; this frequency is high relative to the overall 20% incidence in individuals with Noonan syndrome. Luciferase assays in NIH 3T3 cells showed that five RIT1 alterations identified in children with Noonan syndrome enhanced ELK1 transactivation. The introduction of mRNAs of mutant RIT1 into 1-cell-stage zebrafish embryos was found to result in a significant increase of embryos with craniofacial abnormalities, incomplete looping, a hypoplastic chamber in the heart, and an elongated yolk sac. These results demonstrate that gain-of-function mutations in RIT1 cause Noonan syndrome and show a similar biological effect to mutations in other RASopathy-related genes. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  19. Piriformis syndrome caused by extraosseous osteosarcoma. Case report

    International Nuclear Information System (INIS)

    Takemoto, Harumasa; Ishizaki, Yoshitaka; Ri, Taishin; Ito, Katsuya; Nagano, Tatsuo; Kitada, Chikara; Tamai, Masamitsu; Morishita, Toru

    2003-01-01

    We experienced a case of extraosseous osteosarcoma in an irradiated area, which showed the same symptom that piriformis syndrome revealed. This is a case report of a patient, forty-nine years old female. She was given radiation therapy in total dose of 50 Gy after total removal of ovarium and uterus with a diagnosis of the uterine cervix. She complained of pain at the lower extremity from early in January, 2002. Because of increase in pain, she consulted Higashiosaka City General Hospital. On examination, sciatic nerve disturbance was shown, X-ray and computed tomography showed ossification on the portion of the piriformis muscle. Removal of the tumor was done, and the pathological diagnosis as extraosseous osteosarcoma. It is considered that this present case is classified into radiation-induced extraosseous osteosarcoma, which was arisen after a relatively long, silent latent period since radiation was followed. Because it developed in a cartilage tissue in front of the piriformis muscle and infiltrated into the sciatic nerve, it is considered that this case is extremely rare as the case that revealed piriformis syndrome. (author)

  20. Noonan syndrome-causing genes: Molecular update and an assessment of the mutation rate

    Directory of Open Access Journals (Sweden)

    Ihssane El Bouchikhi

    2016-12-01

    Full Text Available Noonan syndrome is a common autosomal dominant disorder characterized by short stature, congenital heart disease and facial dysmorphia with an incidence of 1/1000 to 2500 live births. Up to now, several genes have been proven to be involved in the disturbance of the transduction signal through the RAS-MAP Kinase pathway and the manifestation of Noonan syndrome. The first gene described was PTPN11, followed by SOS1, RAF1, KRAS, BRAF, NRAS, MAP2K1, and RIT1, and recently SOS2, LZTR1, and A2ML1, among others. Progressively, the physiopathology and molecular etiology of most signs of Noonan syndrome have been demonstrated, and inheritance patterns as well as genetic counseling have been established. In this review, we summarize the data concerning clinical features frequently observed in Noonan syndrome, and then, we describe the molecular etiology as well as the physiopathology of most Noonan syndrome-causing genes. In the second part of this review, we assess the mutational rate of Noonan syndrome-causing genes reported up to now in most screening studies. This review should give clinicians as well as geneticists a full view of the molecular aspects of Noonan syndrome and the authentic prevalence of the mutational events of its causing-genes. It will also facilitate laying the groundwork for future molecular diagnosis research, and the development of novel treatment strategies.

  1. 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...

  2. An unusual cause of an inferior vena cava syndrome

    NARCIS (Netherlands)

    Regoort, M.; Reekers, J. A.; Kromhout, J. G.

    1989-01-01

    Two patients are presented with an occlusion of the infrarenal vena cava caused by a vena cava aneurysm. This rare congenital vena caval anomaly may mimic retroperitoneal lymphadenopathy, especially on CT- imaging without contrast enhancement

  3. Nephrotic syndrome: a rare cause of acute coronary syndrome in a child

    International Nuclear Information System (INIS)

    Khan, J.A.; Shamsi, F.

    2012-01-01

    Patients with nephrotic syndrome are at risk of developing thrombosis in both veins and arteries. Various manifestations in different organs have been reported. Thrombi in heart seen, associated with multi organ thrombosis have been reported on autopsy earlier, but only once in a living patient with nephrotic syndrome. Here, we report a 13 years old boy with steroid-resistant nephrotic syndrome, who developed an asymptomatic but potentially hazardous large intracardiac thrombus. The child developed nephrotic syndrome at the age of 9 years and had multiple recurrences. At the age of 13 years, he developed myocardial infarction (MI) due to embolism from a large intracardiac thrombus. Later on, he was treated with heparin and warfarin anticoagulation. (author)

  4. An often unrecognized cause of thunderclap headache : reversible cerebral vasoconstriction syndrome

    NARCIS (Netherlands)

    Koopman, K; Teune, L K; ter Laan, M; Uyttenboogaart, M; Vroomen, P C; De Keyser, J; Luijckx, G J

    2008-01-01

    Thunderclap headache (TCH) can have several causes of which subarachnoid hemorrhage (SAH) is most common and well known. A rare cause of TCH is the reversible cerebral vasoconstriction syndrome (RCVS) which is characterized by a reversible segmental vasoconstriction of the intracranial vessels. We

  5. Germline Hypermethylation of MLH1 and EPCAM Deletions Are a Frequent Cause of Lynch Syndrome

    NARCIS (Netherlands)

    Niessen, Renee C.; Hofstra, Robert M. W.; Westers, Helga; Ligtenberg, Marjolijn J. L.; Kooi, Krista; Jager, Paul O. J.; de Groote, Marloes L.; Dijkhuizen, Trijnie; Olderode-Berends, Maran J. W.; Hollema, Harry; Kleibeuker, Jan H.; Sijmons, Rolf H.

    It was shown that Lynch syndrome can be caused by germline hypermethylation of the MLH1 and MSH2 promoters. Furthermore, it has been demonstrated very recently that germline deletions of the 3' region of EPCAM cause transcriptional read-through which results in silencing of MSH2 by hypermethylation.

  6. Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome.

    NARCIS (Netherlands)

    Niessen, R.C.; Hofstra, R.M.; Westers, H.; Ligtenberg, M.J.L.; Kooi, K.; Jager, P.O.; Groote, M.L. de; Dijkhuizen, T.; Olderode-Berends, M.J.; Hollema, H.; Kleibeuker, J.H.; Sijmons, R.H.

    2009-01-01

    It was shown that Lynch syndrome can be caused by germline hypermethylation of the MLH1 and MSH2 promoters. Furthermore, it has been demonstrated very recently that germline deletions of the 3' region of EPCAM cause transcriptional read-through which results in silencing of MSH2 by hypermethylation.

  7. Germinal mosaicism of PAX3 mutation caused Waardenburg syndrome type I.

    Science.gov (United States)

    Chen, Kaitian; Zhan, Yuan; Wu, Xuan; Zong, Ling; Jiang, Hongyan

    2018-01-01

    Waardenburg syndrome mutations are most often recurrent or de novo. The rate of familial recurrence is low and families with several affected children are extremely rare. In this study, we aimed to clarify the underlying hereditary cause of Waardenburg syndrome type I in two siblings in a Chinese family, with a mother affected by prelingual mild hearing loss and a father who was negative for clinical symptoms of Waardenburg syndrome and had a normal hearing threshold. Complete characteristic features of the family members were recorded and genetic sequencing and parent-child relationship analyses were performed. The two probands were found to share double mutations in the PAX3/GJB2 genes that caused concurrent hearing loss in Waardenburg syndrome type I. Their mother carried the GJB2 c.109G > A homozygous mutation; however, neither the novel PAX3 c.592delG mutation, nor the Waardenburg syndrome phenotype, was observed in either parent. These previously unreported digenic mutations in PAX3/GJB2 resulted in deafness associated with Waardenburg syndrome type I in this family. To our knowledge, this is the first report describing germinal mosaicism in Waardenburg syndrome. This concept is important because it complicates genetic counseling of this family regarding the risk of recurrence of the mutations in subsequent pregnancies. Copyright © 2017 Elsevier B.V. All rights reserved.

  8. An uncommon cause of hypoglycemia: insulin autoimmune syndrome.

    Science.gov (United States)

    Savas-Erdeve, Senay; Yılmaz Agladioglu, Sebahat; Onder, Asan; Peltek Kendirci, Havva Nur; Bas, Veysel Nijat; Sagsak, Elif; Cetinkaya, Semra; Aycan, Zehra

    2014-01-01

    Insulin autoimmune syndrome (IAS) is a condition characterized by hypoglycemia associated with the presence of autoantibodies to insulin in patients who have not been injected with insulin. A female patient (aged 16 years and 3 months) presented with the complaint of being overweight. Physical examination revealed a body weight of 78.2 kg (+2.6 SD) and a height of 167 cm (+0.73 SD). While the patient's fasting blood glucose level was found to be 40 mg/dl, blood ketone was negative and the serum insulin level was determined as 379 mIU/ml. The patient was diagnosed with hyperinsulinemic hypoglycemia. Abdominal ultrasound, pancreas MRI and endoscopic ultrasound were normal. The daily blood glucose profile revealed postprandial hyperglycemia and reactive hypoglycemia in addition to fasting hypoglycemia. The results of anti-insulin antibody measurements were as high as 41.8% (normal range 0-7%). A 1,600-calorie diet containing 40% carbohydrate and divided into 6 meals a day was given to the patient. Simple sugars were excluded from the diet. Hypoglycemic episodes were not observed, but during 2 years of observation, serum levels of insulin and anti-insulin antibodies remained elevated. In all hyperinsulinemic hypoglycemia cases, IAS should be considered in the differential diagnosis and insulin antibody measurements should be carried out. © 2014 S. Karger AG, Basel.

  9. 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.

  10. 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.

  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. Neonatal Marfan syndrome caused by an exon 25 mutation of the fibrillin-1 gene.

    Science.gov (United States)

    Elçioglu, N H; Akalin, F; Elçioglu, M; Comeglio, P; Child, A H

    2004-01-01

    Neonatal Marfan syndrome caused by an exon 25 mutation of the Fibrillin-1 gene: We describe a male infant with severe arachnodactyly, hypermobility of the fingers, flexion contractures of elbows, wrists, hips, and knees, microretrognathia, crumpled ears, rockerbottom feet, loose redundant skin, and lens dislocations. Cardiac valve insufficiency and aortic dilatation resulted in cardiac failure, decompensated with digitalisation and death occurred at the age of 4 months. This case represents the severe end of the clinical spectrum of Marfan syndrome, namely neonatal Marfan syndrome. Molecular diagnostic analyses confirmed a de novo exon 25 mutation in the FBN1 gene.

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

    African Journals Online (AJOL)

    HUS should be considered in patients presenting with jaundice to the emergency room in the setting of the above mentioned triad. Case Report: This case report is about a 41 year old lady who presented with jaundice, thrombocytopenia, anemia and renal failure. In the course of investigating the cause of her symptoms, ...

  14. Perimenstrual asthma : A syndrome without known cause or cure

    NARCIS (Netherlands)

    Vrieze, A; Postma, DS; Kerstjens, HAM

    Perimenstrual worsening of asthma has been documented in 30% to 40% of asthmatic women. This increase in symptoms has been backed up by increased health care use perimenstrually, as well as by cyclic variation in peak expiratory flows. The cause of perimenstrual asthma (PMA) remains unclear.

  15. Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects

    Directory of Open Access Journals (Sweden)

    Vincent Runtuwene

    2011-05-01

    Noonan syndrome is a relatively common developmental disorder that is characterized by reduced growth, wide-set eyes and congenital heart defects. Noonan syndrome is associated with dysregulation of the Ras–mitogen-activated-protein-kinase (MAPK signaling pathway. Recently, two mutations in NRAS were reported to be associated with Noonan syndrome, T50I and G60E. Here, we report a mutation in NRAS, resulting in an I24N amino acid substitution, that we identified in an individual bearing typical Noonan syndrome features. The I24N mutation activates N-Ras, resulting in enhanced downstream signaling. Expression of N-Ras-I24N, N-Ras-G60E or the strongly activating mutant N-Ras-G12V, which we included as a positive control, results in developmental defects in zebrafish embryos, demonstrating that these activating N-Ras mutants are sufficient to induce developmental disorders. The defects in zebrafish embryos are reminiscent of symptoms in individuals with Noonan syndrome and phenocopy the defects that other Noonan-syndrome-associated genes induce in zebrafish embryos. MEK inhibition completely rescued the activated N-Ras-induced phenotypes, demonstrating that these defects are mediated exclusively by Ras-MAPK signaling. In conclusion, mutations in NRAS from individuals with Noonan syndrome activated N-Ras signaling and induced developmental defects in zebrafish embryos, indicating that activating mutations in NRAS cause Noonan syndrome.

  16. Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects

    Science.gov (United States)

    Runtuwene, Vincent; van Eekelen, Mark; Overvoorde, John; Rehmann, Holger; Yntema, Helger G.; Nillesen, Willy M.; van Haeringen, Arie; van der Burgt, Ineke; Burgering, Boudewijn; den Hertog, Jeroen

    2011-01-01

    SUMMARY Noonan syndrome is a relatively common developmental disorder that is characterized by reduced growth, wide-set eyes and congenital heart defects. Noonan syndrome is associated with dysregulation of the Ras–mitogen-activated-protein-kinase (MAPK) signaling pathway. Recently, two mutations in NRAS were reported to be associated with Noonan syndrome, T50I and G60E. Here, we report a mutation in NRAS, resulting in an I24N amino acid substitution, that we identified in an individual bearing typical Noonan syndrome features. The I24N mutation activates N-Ras, resulting in enhanced downstream signaling. Expression of N-Ras-I24N, N-Ras-G60E or the strongly activating mutant N-Ras-G12V, which we included as a positive control, results in developmental defects in zebrafish embryos, demonstrating that these activating N-Ras mutants are sufficient to induce developmental disorders. The defects in zebrafish embryos are reminiscent of symptoms in individuals with Noonan syndrome and phenocopy the defects that other Noonan-syndrome-associated genes induce in zebrafish embryos. MEK inhibition completely rescued the activated N-Ras-induced phenotypes, demonstrating that these defects are mediated exclusively by Ras-MAPK signaling. In conclusion, mutations in NRAS from individuals with Noonan syndrome activated N-Ras signaling and induced developmental defects in zebrafish embryos, indicating that activating mutations in NRAS cause Noonan syndrome. PMID:21263000

  17. Proteus syndrome: A rare cause of gigantic limb

    OpenAIRE

    Nandini Chakrabarti; Chandan Chattopadhyay; Majhi Bhuban; Salil Kumar Pal

    2014-01-01

    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, spl...

  18. [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.

  19. 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.

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

    African Journals Online (AJOL)

    Le syndrome de Denys-Drash (DD) est une affection génétique rare due à la mutation du gène WT1, impliqué dans la morphogenèse des organes génitaux externes et du rein. Il associe un syndrome néphrotique congénital et une ambiguïté sexuelle. Les premiers signes surviennent dès les 3 premiers mois de vie sous ...

  1. 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.

  2. [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.

  3. Causes, consequences, and therapy of the Radiophobia syndrome

    International Nuclear Information System (INIS)

    Becker, K.

    2004-01-01

    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.) [de

  4. A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome

    DEFF Research Database (Denmark)

    Clendenning, Mark; Senter, Leigha; Hampel, Heather

    2008-01-01

    BACKGROUND: When compared to the other mismatch repair genes involved in Lynch syndrome, the identification of mutations within PMS2 has been limited (Lynch syndrome cases...... on immunohistochemical analysis. RESULTS: We have identified a frequently occurring frame-shift mutation (c.736_741del6ins11) in 12 ostensibly unrelated Lynch syndrome patients (20% of patients we have identified with a deleterious mutation in PMS2, n=61). These individuals all display the rare allele (population...... are caused by PMS2. This disparity is primarily due to complications in the study of this gene caused by interference from pseudogene sequences. METHODS: Using a recently developed method for detecting PMS2 specific mutations, we have screened 99 patients who are likely candidates for PMS2 mutations based...

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

    Directory of Open Access Journals (Sweden)

    Akiko Ikegami

    2015-01-01

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

  6. Dyke-Davidoff-Masson Syndrome. An unusual cause of status epilepticus.

    Science.gov (United States)

    Zawar, Ifrah; Khan, Ashfa A; Sultan, Tipu; Rathore, Ahsan W

    2015-10-01

    The Dyke-Davidoff-Masson Syndrome (DDMS) results from an insult to the growing brain in utero or early infancy, which lead to loss of neurons compromising the growth of the brain. Clinical presentation includes seizures, hemiparesis, facial asymmetry, and learning disability. Radiological findings include cerebral atrophy on one side. Here, we present a case with status epilepticus who had underlying DDMS. It is a rare syndrome and uncommon cause for status epilepticus. Infections of CNS, hypoxic ischemic encephalopathy, intracranial bleed, trauma, congenital vascular malformations are the common causes of this syndrome. Diagnosis is established after clinical history, examination, and MRI. Intractable seizures can be controlled with appropriate anticonvulsants. Subsequently, these children may require physiotherapy, speech therapy, and occupational therapy in addition to the anticonvulsant medication. Outcome is better if the seizures are controlled.

  7. 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....

  8. Guillain Barre syndrome: the leading cause of acute flaccid paralysis in Hazara division.

    Science.gov (United States)

    Anis-ur-Rehman; Idris, Muhammad; Elahi, Manzoor; Jamshed; Arif, Adeel

    2007-01-01

    Acute flaccid paralysis (AFP) can be caused by a number of conditions. A common preventable cause is poliomyelitis which is still being reported in Pakistan, Guillain Barre Syndrome (GBS), also known as Acute Inflammatory Demyelinating Polyneuropathy, is another common cause of acute flaccid paralysis. It is important to recognize GBS in childhood as parents consider all acute flaccid paralysis to be due to poliomyelitis. The present study was designed to know the frequency of different causes of acute flaccid paralysis in Hazara division. This is a retrospective analysis of cases of acute flaccid paralysis reported from various districts of Hazara division during the period January 2003 to December 2004. Acute flaccid paralysis was diagnosed clinically through history and clinical examination. The underlying cause of acute flaccid paralysis was investigated by appropriate laboratory tests, such as serum electrolytes, cerebrospinal fluid analysis, electromyogram, nerve conduction study and stool culture for polio virus and other enteroviruses. Diagnosis of Poliomyelitis was confirmed by stool testing for poliovirus. 74 patients presented with AFP during the study period. 36 were male and 38 were female. Guillain Barre syndrome and enteroviral encephalopathy were the two leading causes of acute flaccid paralysis. Majority of the cases were reported from Mansehra district. Children of age groups 12 to 24 months and > 96 months constituted the majority (20% each). Guillian Barre syndrome was the leading cause of acute flaccid paralysis reported from various parts of Hazara division.

  9. Diarrhea, Urosepsis and Hemolytic Uremic Syndrome Caused by the Same Heteropathogenic Escherichia coli Strain

    NARCIS (Netherlands)

    Ang, C. Wim; Bouts, Antonia H. M.; Rossen, John W. A.; van der Kuip, Martijn; van Heerde, Marc; Bökenkamp, Arend

    2016-01-01

    We describe an 8-month-old girl with diarrhea, urosepsis and hemolytic uremic syndrome caused by Escherichia coli. Typing of cultured E. coli strains from urine and blood revealed the presence of virulence factors from multiple pathotypes of E. coli. This case exemplifies the genome plasticity of E.

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

    NARCIS (Netherlands)

    Fergelot, P.; Belzen, M. van; Gils, J. Van; Afenjar, A.; Armour, C.M.; Arveiler, B.; Beets, L.; Burglen, L.; Busa, T.; Collet, M.; Deforges, J.; Vries, B.B. de; Dominguez Garrido, E.; Dorison, N.; Dupont, J.; Francannet, C.; Garcia-Minaur, S.; Vila, E. Gabau; Gebre-Medhin, S.; Gener Querol, B.; Genevieve, D.; Gerard, M.; Gervasini, C.G.; Goldenberg, A.; Josifova, D.; Lachlan, K.; Maas, S.; Maranda, B.; Moilanen, J.S.; Nordgren, A.; Parent, P.; Rankin, J.; Reardon, W.; Rio, M. del; Roume, J.; Shaw, A.; Smigiel, R.; Sojo, A.; Solomon, B.; Stembalska, A.; Stumpel, C.; Suarez, F.; Terhal, P.; Thomas, S.; Touraine, R.; Verloes, A.; Vincent-Delorme, C.; Wincent, J.; Peters, D.J.; Bartsch, O.; Larizza, L.; Lacombe, D.; Hennekam, R.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

  11. 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....

  12. Gastric invagination in adults as a rare cause of constitutional syndrome.

    Science.gov (United States)

    Dávila Arias, Cristina; Milena Muñoz, Ana; Valero González, María Ángeles; Céspedes Mas, Mariano

    2017-02-01

    This article describes and illustrates the case of an adult patient with clinical symptoms of constitutional syndrome, postprandial discomfort and a mass in the left lateral abdominal region caused by a gastric intussusception with a fundal adenoma as the head of the invagination. The intussusception was diagnosed by MRI (magnetic resonance imaging).

  13. 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.

  14. 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 in ...

  15. What causes dryness in Sjögren's syndrome patients and how can it be targeted?

    Science.gov (United States)

    Pflugfelder, Stephen C

    2014-04-01

    Concepts regarding what causes dryness in Sjögren's syndrome have evolved over the past decade. Inflammation in the lacrimal functional unit contributes to development of dry eye by causing dysfunction and even death of tear secreting epithelium in the lacrimal gland and conjunctiva that alters tear composition and stability. Disease-relevant inflammatory mediators have been identified and therapies targeting these mediators are beginning to emerge.

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

    African Journals Online (AJOL)

    avec mise en dialyse et transplantation précoce. Cette thérapie agressive pratiquée avant la survenue de toute insuffisance rénale permet d'éviter toutes les complications du syndrome néphrotique qui en général ne récidive pas sur le greffon. Elle évite également l'évolution vers le néphroblastome. L'ablation des gonades ...

  17. Hypertensive Cerebral Hemorrhage in a Patient with Turner Syndrome Caused by Deletion in the Short Arm of the X Chromosome.

    Science.gov (United States)

    Hori, Yusuke S; Ohkura, Takahiro; Ebisudani, Yuki; Umakoshi, Michiari; Ishi, Masato; Oda, Kazunori; Aoi, Mizuho; Inoue, Takushi; Furujo, Mahoko; Tanaka, Hiroyuki; Fukuhara, Toru

    2018-01-01

    Turner syndrome is a chromosomal disorder usually caused by complete deletion of an X chromosome, with deletion in the short arm of the X chromosome being a rare cause of the condition. Patients with Turner syndrome commonly develop hypertension, and associated vascular complications such as aortic dissection or cerebral hemorrhage have been reported. Cerebral hemorrhage in Turner syndrome is a rare complication, and only a few reports have been published. In these reports, all patients have XO karyotypes or a mosaic type as the cause of Turner syndrome, while no other Turner syndrome types have been documented. In this report, we present for the first time a patient with Turner syndrome caused by deletion in the short arm of the X chromosome who experienced hypertensive hemorrhage as a late complication. © 2017 S. Karger AG, Basel.

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

    International Nuclear Information System (INIS)

    Gunduz, Yasemin; Asil, Kiyasrttin; Aksoy, Yakup Ersel; Ayhan, Lacin Tatli

    2014-01-01

    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.

  19. Thrombosed persistent median artery causing carpal tunnel syndrome associated with bifurcated median nerve: A case report

    International Nuclear Information System (INIS)

    Salter, M.; Sinha, N. R.; Szmigielski, W.

    2011-01-01

    Background: Carpal tunnel syndrome is a sporadically occurring abnormality due to compression of median nerve. It is exceedingly rare for it to be caused by thrombosis of persistent median artery. Case Report: A forty two year old female was referred for ultrasound examination due to ongoing wrist pain, not relived by pain killers and mild paraesthesia on the radial side of the hand. High resolution ultrasound and Doppler revealed a thrombosed persistent median artery and associated bifurcated median nerve. The thrombus resolved on treatment with anticoagulants. Conclusions: Ultrasound examination of the wrist when done for patients with carpal tunnel syndrome should preferably include looking for persistent median artery and its patency. (authors)

  20. 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.

  1. 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.

  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. Minimally Invasive Treatment of Mirizzi Syndrome, a Rare Cause of Cholestasis in Childhood

    Science.gov (United States)

    Yilmaz, Sezgin; Yavuz, Mustafa; Çetinkurşun, Salih

    2016-01-01

    Mirizzi syndrome is the compressive blockage of the cystic or choledochal duct caused by a biliary stone occupying the cystic canal or Hartmann's pouch. This occurrence is rare and, in English literature, three cases defined in children have been observed. In order to draw attention to this rare occurrence, we preferred a 14-year-old male patient with Mirizzi syndrome. In this case, ERCP was performed preoperatively and the diagnosis was carried out with the help of clear visualisation and identification of the tissue structures as well as the stent placed in bile duct; so we protected the patient from the possible iatrogenic injury occurring during surgery. PMID:27843664

  4. Minimally Invasive Treatment of Mirizzi Syndrome, a Rare Cause of Cholestasis in Childhood

    Directory of Open Access Journals (Sweden)

    Ahmet Ali Tuncer

    2016-01-01

    Full Text Available Mirizzi syndrome is the compressive blockage of the cystic or choledochal duct caused by a biliary stone occupying the cystic canal or Hartmann’s pouch. This occurrence is rare and, in English literature, three cases defined in children have been observed. In order to draw attention to this rare occurrence, we preferred a 14-year-old male patient with Mirizzi syndrome. In this case, ERCP was performed preoperatively and the diagnosis was carried out with the help of clear visualisation and identification of the tissue structures as well as the stent placed in bile duct; so we protected the patient from the possible iatrogenic injury occurring during surgery.

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

    International Nuclear Information System (INIS)

    Ramli, N.; Merican, A.M.; Lim, A.; Kumar, G.

    2001-01-01

    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.)

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

    International Nuclear Information System (INIS)

    Liu, Patrick T.; Moyer, Adrian C.; Huettl, Eric A.; Fowl, Richard J.; Stone, William M.

    2005-01-01

    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.)

  8. 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.

  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.

    2015-01-01

    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

  10. Neuroendocrine carcinoma of the ampulla of Vater causing ectopic adrenocorticotropic hormone-dependent Cushing's syndrome.

    Science.gov (United States)

    Kato, Akihisa; Hayashi, Kazuki; Naitoh, Itaru; Seno, Kyoji; Okada, Yukiko; Ban, Tesshin; Kondo, Hiromu; Nishi, Yuji; Umemura, Shuichiro; Hori, Yasuki; Natsume, Makoto; Joh, Takashi

    2016-07-01

    Ectopic adrenocorticotropic hormone (ACTH) is rarely secreted by neuroendocrine tumors. Although neuroendocrine tumors may occur at any site in the gastrointestinal system, they very rarely occur in the ampulla of Vater and have a poor prognosis. The present study described the first Cushing's syndrome as a result of ectopic ACTH arising from the ampulla of Vater neuroendocrine carcinoma. A 69-year-old female was admitted with clinical features of Cushing's syndrome, confirmed biochemically by hypokalemia, and elevated levels of ACTH and cortisol. In further investigations, a tumor of the ampulla of Vater and liver metastases were detected. Pathological analysis of the biopsy confirmed a neuroendocrine carcinoma, which was immunohistochemically positive for chromogranin A, synaptophysin, cluster of differentiation 56 and ACTH. Therefore, the present study diagnosed a functional and metastatic neuroendocrine carcinoma of the ampulla of Vater with ectopic ACTH production causing Cushing's syndrome. The patient succumbed to mortality 4 months later, despite administration of combined chemotherapy with irinotecan and cisplatin.

  11. Inflammatory cause of metabolic syndrome via brain stress and NF-κB

    Science.gov (United States)

    Cai, Dongsheng; Liu, Tiewen

    2012-01-01

    Metabolic syndrome, a network of medical disorders that greatly increase the risk for developing metabolic and cardiovascular diseases, has reached epidemic levels in many areas of today's world. Despite this alarming medicare situation, scientific understandings on the root mechanisms of metabolic syndrome are still limited, and such insufficient knowledge contributes to the relative lack of effective treatments or preventions for related diseases. Recent interdisciplinary studies from neuroendocrinology and neuroimmunology fields have revealed that overnutrition can trigger intracellular stresses to cause inflammatory changes mediated by molecules that control innate immunity. This type of nutrition-related molecular inflammation in the central nervous system, particularly in the hypothalamus, can form a common pathogenic basis for the induction of various metabolic syndrome components such as obesity, insulin resistance, and hypertension. Proinflammatory NF-κB pathway has been revealed as a key molecular system for pathologic induction of brain inflammation, which translates overnutrition and resulting intracellular stresses into central neuroendocrine and neural dysregulations of energy, glucose, and cardiovascular homeostasis, collectively leading to metabolic syndrome. This article reviews recent research advances in the neural mechanisms of metabolic syndrome and related diseases from the perspective of pathogenic induction by intracellular stresses and NF-κB pathway of the brain. PMID:22328600

  12. 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.

  13. Artery of Percheron Infarction as an Unusual Cause of Korsakoff’s Syndrome

    Directory of Open Access Journals (Sweden)

    Yongxing Zhou

    2015-01-01

    Full Text Available The Korsakoff syndrome is defined as “an abnormal mental state in which memory and learning are affected out of all proportion to other cognitive functions in an otherwise alert and responsive patient.” Confabulation refers to false or erroneous memories arising, not deliberately, in the context of a neurological amnesia and is often thought of as pathognomonic of the Korsakoff syndrome. Although the exact pathophysiology is unknown, various studies have identified brain lesions in the thalami, mammillary bodies, and frontal cortex. We report a case of a 68-year-old male presenting with acute altered mental status on July 16, 2015. The neuropsychological dysfunctions included prominent Korsakoff’s syndrome, which became apparent when the altered mental status resolved. Amnesia was accompanied by prominent confabulation, disorientation, and lack of insight into his own disability. Neuroradiological data indicated that the intralaminar and dorsomedial nuclei in bilateral thalami were infarcted by occlusion of the artery of Percheron. We believe that ours is one of few reported cases of Korsakoff syndrome in a patient with infarction involving the territory of the artery of Percheron. We conclude that bilateral thalamic lesions could cause Korsakoff’s syndrome and the intralaminar and dorsomedial nuclei might be important structures in the pathogenesis of confabulation.

  14. Diencephalic syndrome: a frequently neglected cause of failure to thrive in infants.

    Science.gov (United States)

    Kim, Ahlee; Moon, Jin Soo; Yang, Hye Ran; Chang, Ju Young; Ko, Jae Sung; Seo, Jeong Kee

    2015-01-01

    Diencephalic syndrome is an uncommon cause of failure to thrive in early childhood that is associated with central nervous system neoplasms in the hypothalamic-optic chiasmatic region. It is characterized by complex signs and symptoms related to hypothalamic dysfunction; such nonspecific clinical features may delay diagnosis of the brain tumor. In this study, we analyzed a series of cases in order to define characteristic features of diencephalic syndrome. We performed a retrospective study of 8 patients with diencephalic syndrome (age, 5-38 months). All cases had presented to Seoul National University Children's Hospital between 1995 and 2013, with the chief complaint of poor weight gain. Diencephalic syndrome with central nervous system (CNS) neoplasm was identified in 8 patients. The mean age at which symptoms were noted was 18±10.5 months, and diagnosis after symptom onset was made at the mean age of 11±9.7 months. The mean z score was -3.15±1.14 for weight, -0.12±1.05 for height, 1.01±1.58 for head circumference, and -1.76±1.97 for weight-for-height. Clinical features included failure to thrive (n=8), hydrocephalus (n=5), recurrent vomiting (n=5), strabismus (n=2), developmental delay (n=2), hyperactivity (n=1), nystagmus (n=1), and diarrhea (n=1). On follow-up evaluation, 3 patients showed improvement and remained in stable remission, 2 patients were still receiving chemotherapy, and 3 patients were discharged for palliative care. Diencephalic syndrome is a rare cause of failure to thrive, and diagnosis is frequently delayed. Thus, it is important to consider the possibility of a CNS neoplasm as a cause of failure to thrive and to ensure early diagnosis.

  15. Non-syndromic posterior lenticonus a cause of childhood cataract: evidence for X-linked inheritance.

    Science.gov (United States)

    Russell-Eggitt, I M

    2000-12-01

    When an X-linked pedigree of posterior lenticonus with cataract was identified further evidence for X-linked inheritance of this condition was sought. Forty-three cases of posterior lenticonus were identified from a database of 354 children with cataract. Two children with the X-linked syndromes of Lowe and Nance-Horan and 3 children with Fanconi syndrome have been excluded from further analysis. None of the children was deaf. None of the non-syndromic cases had microcornea. There were 38 cases of non-syndromic posterior lenticonus (approximately 11%). There were 15 children from 13 pedigrees and 23 apparently sporadic cases. Of the 106 cases on the database with unilateral cataract 15 had posterior lenticonus (approximately 14%). Eleven of 13 pedigrees were compatible with X-linked inheritance or autosomal dominant inheritance with variable expression. However, in 2 pedigrees there was father to son transmission. Posterior lenticonus is a common cause of unilateral infantile cataract, but is thought to be a rare cause of bilateral cataracts. This study suggests that posterior lenticonus is responsible for a significant proportion of childhood cataracts (approximately 14% of unilateral and approximately 9% of bilateral cases). Posterior lenticonus is generally thought to occur as a sporadic condition. This study demonstrates that there is a family history of early-onset cataract in a significant number of bilateral cases (approximately 58%).

  16. c.376G>A mutation in WFS1 gene causes Wolfram syndrome without deafness.

    Science.gov (United States)

    Safarpour Lima, Behnam; Ghaedi, Hamid; Daftarian, Narsis; Ahmadieh, Hamid; Jamshidi, Javad; Khorrami, Mehdi; Noroozi, Rezvan; Sohrabifar, Nasim; Assarzadegan, Farhad; Hesami, Omid; Taghavi, Shaghayegh; Ahmadifard, Azadeh; Atakhorrami, Minoo; Rahimi-Aliabadi, Simin; Shahmohammadibeni, Neda; Alehabib, Elham; Andarva, Monavvar; Darvish, Hossein; Emamalizadeh, Babak

    2016-02-01

    Wolfram syndrome is one of the rare autosomal recessive, progressive, neurodegenerative disorders, characterized by diabetes mellitus and optic atrophy. Several other features are observed in patients including deafness, ataxia, and peripheral neuropathy. A gene called WFS1 is identified on chromosome 4p, responsible for Wolfram syndrome. We investigated a family consisted of parents and 8 children, which 5 of them have been diagnosed for Wolfram syndrome. WFS1 gene in all family members was sequenced for causative mutations. A mutation (c.376G>A, p.A126T) was found in all affected members in homozygous state and in both parents in heterozygous state. The bioinformatics analysis showed the deleterious effects of this nucleotide change on the structure and function of the protein product. As all of the patients in the family showed the homozygote mutation, and parents were both heterozygote, this mutation is probably the cause of the disease. We identified this mutation in homozygous state for the first time as Wolfram syndrome causation. We also showed that this mutation probably doesn't cause deafness in affected individuals. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  17. ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome

    Science.gov (United States)

    Miyatake, Satoko; Okamoto, Nobuhiko; Stark, Zornitza; Nabetani, Makoto; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Miyake, Noriko; Mizuguchi, Takeshi; Ohtake, Akira; Saitsu, Hirotomo; Matsumoto, Naomichi

    2017-01-01

    KBG syndrome (KBGS) is an autosomal dominant multiple congenital anomaly-intellectual disability syndrome, characterized by developmental delay with neurological involvements, macrodontia of the upper central incisors, characteristic facial dysmorphism and skeletal anomalies. Variants in ANKRD11 cause KBGS. We present five individuals from four families with ANKRD11 variants identified by whole-exome sequencing. Four of the five were clinically affected, and their diagnoses were varied. One was typical KBGS, two were Coffin–Siris syndrome-like (CSS), and one was intellectual disability with infantile spasms. One individual showed extremely mild phenotype. All individuals fulfilled the proposed diagnostic criteria for KBGS. Phenotypic features overlap between KBGS and CSS to some extent, and characteristic dental and fifth finger/toe findings can indicate differential diagnosis. These findings indicate that patients with ANKRD11 variants occupy a wide spectrum of intellectual disability, including clinically normal individuals. This is the first report highlighting the clinical overlap between KBGS and CSS and supporting the recently proposed clinical concept, in which transcriptional machineries are disrupted. PMID:28250421

  18. ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.

    Science.gov (United States)

    Miyatake, Satoko; Okamoto, Nobuhiko; Stark, Zornitza; Nabetani, Makoto; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Miyake, Noriko; Mizuguchi, Takeshi; Ohtake, Akira; Saitsu, Hirotomo; Matsumoto, Naomichi

    2017-08-01

    KBG syndrome (KBGS) is an autosomal dominant multiple congenital anomaly-intellectual disability syndrome, characterized by developmental delay with neurological involvements, macrodontia of the upper central incisors, characteristic facial dysmorphism and skeletal anomalies. Variants in ANKRD11 cause KBGS. We present five individuals from four families with ANKRD11 variants identified by whole-exome sequencing. Four of the five were clinically affected, and their diagnoses were varied. One was typical KBGS, two were Coffin-Siris syndrome-like (CSS), and one was intellectual disability with infantile spasms. One individual showed extremely mild phenotype. All individuals fulfilled the proposed diagnostic criteria for KBGS. Phenotypic features overlap between KBGS and CSS to some extent, and characteristic dental and fifth finger/toe findings can indicate differential diagnosis. These findings indicate that patients with ANKRD11 variants occupy a wide spectrum of intellectual disability, including clinically normal individuals. This is the first report highlighting the clinical overlap between KBGS and CSS and supporting the recently proposed clinical concept, in which transcriptional machineries are disrupted.

  19. Membranous IVC Obstruction Presenting with Antegrade/Retrograde Respiratory Flow in the Intrahepatic Segment in Doppler Imaging and Prostatic and Urethral Congestion

    International Nuclear Information System (INIS)

    Sood, Dinesh; Mistry, Kewal A.; Chadha, Veenal; Sharma, Sarthak; Morey, Parikshit D.; Suthar, Pokhraj P.; Patel, Dhruv G.

    2015-01-01

    Obstruction of the inferior vena cava (IVC) is infrequent, membranous obstruction of the IVC (MOIVC) being one of its rare causes. Early diagnosis is important, as it can lead to hepatic congestion, cirrhosis and Budd-Chiari syndrome (BCS) and can predispose to development of hepatocellular carcinoma (HCC) in severe cases. We report a case of membranous IVC obstruction at the junction of hepatic and suprahepatic segments in a young male with extensive collateralization and venous aneurysms. Unique findings involved antegrade and retrograde flow during respiration in the upper part of intrahepatic IVC proximal to a large collateral vein as well as prostatic and urethral congestion leading to intermittent urinary hesitancy, which have not yet been described in such cases. MOIVC is a rare cause of IVC obstruction with typical radiological features. Early diagnosis and management is required due to risk of cirrhosis and HCC. Antegrade and retrograde flow may be seen in incomplete MOIVC above the level of a large collateral vein and it may lead to prostatic and urethral congestion

  20. 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.

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

    Science.gov (United States)

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

    2013-07-01

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

  3. 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...

  4. 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.

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

    DEFF Research Database (Denmark)

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

    2013-01-01

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

  6. Fulminant Necrotizing Fasciitis and Toxic Shock Syndrome Caused by Streptococcus agalactiae

    Directory of Open Access Journals (Sweden)

    Emin UYSAL

    2018-03-01

    Full Text Available Necrotizing fasciitis is a rare and life-threatening soft tissue infection that spreads rapidly and involves the skin, subcutaneous tissue, fascia, and muscle layer. The treatment is possible by initiating appropriate antibiotherapy for the clinically suspected cause and by performing surgical intervention quickly and aggressively. However, it should be known that necrotizing fasciitis is a disease that is difficult to manage despite all interventions, effective treatment protocols, and patient care. This article presents the case of a 60-year-old patient with diabetes mellitus who died of toxic shock syndrome with fulminant necrotizing fasciitis caused by Streptococcus agalactiae.

  7. Long-term outcome following trans-jugular intrahepatic portosystemic shunt for variceal bleeding due to portal hypertension

    International Nuclear Information System (INIS)

    Cui Jinguo; Zhang Shutian; Feng Zitan; Zhou Guifen; Pan Xinyuan; Liang Zhihui

    2002-01-01

    Objective: To study the 6-year outcome following trans-jugular intrahepatic portosystemic shunt (TIPSS) for variceal bleeding due to portal hypertension. Methods: 65 patients, 51 males, 14 females, aged 35-72 years old with averaged 4.5 years, have been undergone TIPSS because of portal hypertension due to cirrhosis or Budd-Chiari syndrome. The portal pressures were measured before and after TIPSS. Follow-up study was done by color Doppler sonography or Barium esophageal radiography for 3 months to 6 years (averaged 18 months). Repeated interventional treatments were done in cases of restenosis of the shunts. Results: There were 0, 2, 10, 5, 0 cases of recurrent bleeding after 3 months, 6 months, 1 year, 2 year and 3-6 year following TIPSS respectively. Stenosis occurred in shunt paths due to thrombosis or smooth muscle cell proliferation or neo-intimal hyperplasia were relieved after thrombolytic therapy and repeated balloon angioplasty or stent plant among most of them. 2 were failed due to serious stenosis. 7 cases died, 2 of massive bleeding, 1 of the other cause and 4 of hepatic cancer. The other patients are getting well. Conclusions: Although there were very high rates of restenosis (34%), but most of them could be treated again with interventional therapy, and in kept patency effectively. TIPSS is a still practical valuable management for massive gastric bleeding

  8. Radiologic follow-up of the transjugular intrahepatic stent-shunt (TIPSS)

    International Nuclear Information System (INIS)

    Hansmann, H.J.; Noeldge, G.; Leutloff, U.; Radeleff, B.; Richter, G.M.

    2001-01-01

    The transjugular intrahepatic stent-shunt (TIPSS) is a well accepted minimal invasive therapy for complications of portal hypertension: recurrent variceal bleeding, refractory ascites and liver failure due to the Budd-Chiari syndrome. The high frequency of shunt stenoses and occlusions makes regular follow up examinations essential. Despite modern non invasive imaging methods direct portography still is the gold standard for shunt surveillance in TIPSS. Ultrasound is helpful to detect shunt dysfunction, but nevertheless its failure rate is considerable despite the use of contrast enhancers such as Levovist because of anatomic and physical limitations, particularly when TIPSS-tracts deep in the liver are present. Reintervention rates approach 90-100% after 24 months, with 100% in child's A patients with comparatively good liver function. However, a strict shunt surveillance program with early portography and reintervention when necessary guarantees high clinical success rates associated with very low rebleeding rates below 10%. Overall the secondary success rate is 80%. Secondary failures are mainly caused by lack of patient compliance during follow-up. In a subgroup of patients no shunt maturation is observed, requiring multiple shunt revisions. In cases of recurrent shunt occlusions an association with bile leaks is presumed. In selected cases patients with chronically recurrent shunt stenosis or occlusions may benefit from placement of TIPSS stent grafts. (orig.) [de

  9. Diffuse and vascular hepatic diseases

    International Nuclear Information System (INIS)

    Kreimeyer, S.; Grenacher, L.

    2011-01-01

    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.) [de

  10. Medial abrasion syndrome: a neglected cause of knee pain in middle and old age.

    Science.gov (United States)

    Lyu, Shaw-Ruey; Lee, Ching-Chih; Hsu, Chia-Chen

    2015-04-01

    Knee pain is a prevailing health problem of middle and old age. Medial plica-related medial abrasion syndrome (MAS), although a well-known cause of knee pain in younger individuals, has rarely been investigated in older individuals. This prospective study was conducted to investigate the prevalence and clinical manifestations of this syndrome as a cause of knee pain in middle and old age. The outcomes of arthroscopic treatment for this syndrome were also evaluated.A total of 232 knees of 169 patients >40 years of age (41-82, median: 63 years old) suffering from chronic knee pain were analyzed. The clinical diagnosis, predisposing factors, presenting symptoms, and physical signs were investigated. The sensitivity and specificity of each parameter of the clinical presentation for the diagnosis of MAS were evaluated after confirmation by arthroscopy. For patients with MAS, the roentgenographic and arthroscopic manifestations were investigated, and arthroscopic medial release (AMR) was performed. The outcomes were evaluated by the changes in the pain domain of the Knee Society scoring system and by patient satisfaction. The prevalence of medial plica was 95%, and osteoarthritis (OA) was the most common clinical diagnosis. Symptoms of pain and crepitus in motion and local tenderness during physical examination were the most sensitive parameters for the diagnosis. A history of a single knee injury combined with local tenderness and a palpable band found during physical examination were the most specific parameters for the diagnosis. The majority of patients suffering from this syndrome were successfully treated using AMR, yielding a satisfaction rate of 85.5% after a minimum of 3 years.MAS is a common cause of knee pain in middle and old age and can be effectively treated by AMR. Its concomitance with OA warrants further investigation.

  11. 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.

  12. Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.

    Science.gov (United States)

    Woods, C G; Stricker, S; Seemann, P; Stern, R; Cox, J; Sherridan, E; Roberts, E; Springell, K; Scott, S; Karbani, G; Sharif, S M; Toomes, C; Bond, J; Kumar, D; Al-Gazali, L; Mundlos, S

    2006-08-01

    Fuhrmann syndrome and the Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome are considered to be distinct limb-malformation disorders characterized by various degrees of limb aplasia/hypoplasia and joint dysplasia in humans. In families with these syndromes, we found homozygous missense mutations in the dorsoventral-patterning gene WNT7A and confirmed their functional significance in retroviral-mediated transfection of chicken mesenchyme cell cultures and developing limbs. The results suggest that a partial loss of WNT7A function causes Fuhrmann syndrome (and a phenotype similar to mouse Wnt7a knockout), whereas the more-severe limb truncation phenotypes observed in Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome result from null mutations (and cause a phenotype similar to mouse Shh knockout). These findings illustrate the specific and conserved importance of WNT7A in multiple aspects of vertebrate limb development.

  13. A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family.

    Science.gov (United States)

    Tian, Qi; Li, Yunping; Kousar, Rizwana; Guo, Hui; Peng, Fenglan; Zheng, Yu; Yang, Xiaohua; Long, Zhigao; Tian, Runyi; Xia, Kun; Lin, Haiying; Pan, Qian

    2017-01-07

    Nance-Horan Syndrome (NHS) (OMIM: 302350) is a rare X-linked developmental disorder characterized by bilateral congenital cataracts, with occasional dental anomalies, characteristic dysmorphic features, brachymetacarpia and mental retardation. Carrier females exhibit similar manifestations that are less severe than in affected males. Here, we report a four-generation Chinese family with multiple affected individuals presenting Nance-Horan Syndrome. Whole-exome sequencing combined with RT-PCR and Sanger sequencing was used to search for a genetic cause underlying the disease phenotype. Whole-exome sequencing identified in all affected individuals of the family a novel donor splicing site mutation (NM_198270: c.1045 + 2T > A) in intron 4 of the gene NHS, which maps to chromosome Xp22.13. The identified mutation results in an RNA processing defect causing a 416-nucleotide addition to exon 4 of the mRNA transcript, likely producing a truncated NHS protein. The donor splicing site mutation NM_198270: c.1045 + 2T > A of the NHS gene is the causative mutation in this Nance-Horan Syndrome family. This research broadens the spectrum of NHS gene mutations, contributing to our understanding of the molecular genetics of NHS.

  14. 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.

  15. Upper gastrointestinal bleeding caused by severe esophagitis: a unique clinical syndrome.

    Science.gov (United States)

    Guntipalli, Prathima; Chason, Rebecca; Elliott, Alan; Rockey, Don C

    2014-12-01

    We have recognized a unique clinical syndrome in patients with upper gastrointestinal bleeding who are found to have severe esophagitis. We aimed to more clearly describe the clinical entity of upper gastrointestinal bleeding in patients with severe esophagitis. We conducted a retrospective matched case-control study designed to investigate clinical features in patients with carefully defined upper gastrointestinal bleeding and severe esophagitis. Patient data were captured prospectively via a Gastrointestinal Bleeding Healthcare Registry, which collects data on all patients admitted with gastrointestinal bleeding. Patients with endoscopically documented esophagitis (cases) were matched with randomly selected controls that had upper gastrointestinal bleeding caused by other lesions. Epidemiologic features in patients with esophagitis were similar to those with other causes of upper gastrointestinal bleeding. However, hematemesis was more common in patients with esophagitis 86% (102/119) than in controls 55% (196/357) (p bleeding than those without cirrhosis. We have described a unique clinical syndrome in patients with upper gastrointestinal bleeding who have erosive esophagitis. This syndrome is manifest by typical clinical features and is associated with favorable outcomes.

  16. [Myocardial bridge as the only cause of acute coronary syndrome among the young patients].

    Science.gov (United States)

    Miakinkova, Liudmila O; Teslenko, Yurii V; Tsyhanenko, Irina V

    2018-01-01

    Introduction: Myocardial bridge is an inborn anomaly of coronary artery development, when a part of it is submerged in a myocard, which is pressing the coronary artery to a systola and restrains coronary blood circulation. Generally this feature of coronary blood circulation does not cause any clinical symptoms because the 85% of coronary blood stream of the left ventricle is provided by diastolic filling. Hemodynamic changes in atherosclerosis, tahicardie, hypertrophie of myocard are leading to the manifestation of clinical symptoms of ischemia. The aim: The purpose of the investigation was to discover the features of clinical development of acute coronary syndrome caused by myocardial bridge of young patients without the features of atherosclerotical harm of coronary arteries. Materials and methods: Eight causes of acute coronary syndrome among patients of 28±8,5 years with myocardial bridge which was revealed during coronary angiography, were investigated. Standardized examination and conservative treatment of patients was held, except for three who have got interventional therapy. Results: According to our investigation, myocardial bridge of all investigated patients was located in the middle of the third front interventricular branch of the left coronary artery. Causes of acute coronary syndrome manifestation were tahicardia, spasms of coronary artery, inducted by iatrogenic factors hypertrophie of myocard, hypertrophic cardiomyopatie. Connection between the manifestation of clinical symptoms and length of tunneled segment which did not depend on the level of systolic compres was discovered. The results of conservative and interventional treatment were analyzed. Conclusions: Myocardial bridge can be the cause of myocardial ischemia among patients without signs of coronary atherosclerosis with additional hemodynamic risk facts such as tahicardia, spasms of coronary artery, hypertrophie of myocard. Clinical symptomatology of the acute coronary syndrome is more

  17. Waardenburg syndrome type 4: report of two new cases caused by SOX10 mutations in Spain.

    Science.gov (United States)

    Fernández, Raquel M; Núñez-Ramos, Raquel; Enguix-Riego, M Valle; Román-Rodríguez, Francisco José; Galán-Gómez, Enrique; Blesa-Sánchez, Emilio; Antiñolo, Guillermo; Núñez-Núñez, Ramón; Borrego, Salud

    2014-02-01

    Shah-Waardenburg syndrome or Waardenburg syndrome type 4 (WS4) is a neurocristopathy characterized by the association of deafness, depigmentation and Hirschsprung disease. Three disease-causing genes have been identified so far for WS4: EDNRB, EDN3, and SOX10. SOX10 mutations, found in 45-55% of WS4 patients, are inherited in autosomal dominant way. In addition, mutations in SOX10 are also responsible for an extended syndrome involving peripheral and central neurological phenotypes, referred to as PCWH (peripheral demyelinating neuropathy, central dysmyelinating leucodystrophy, Waardenburg syndrome, Hirschsprung disease). Such mutations are mostly private, and a high intra- and inter-familial variability exists. In this report, we present a patient with WS4 and a second with PCWH due to SOX10 mutations supporting again the genetic and phenotypic heterogeneity of these syndromes. Interestingly, the WS4 family carries an insertion of 19 nucleotides in exon 5 of SOX10, which results in distinct phenotypes along three different generations: hypopigmentation in the maternal grandmother, hearing loss in the mother, and WS4 in the proband. Since mosaicism cannot explain the three different related-WS features observed in this family, we propose as the most plausible explanation the existence of additional molecular events, acting in an additive or multiplicative fashion, in genes or regulatory regions unidentified so far. On the other hand, the PCWH case was due to a de novo deletion in exon 5 of the gene. Efforts should be devoted to unravel the mechanisms underlying the intrafamilial phenotypic variability observed in the families affected, and to identify new genes responsible for the still unsolved WS4 cases. © 2013 Wiley Periodicals, Inc.

  18. SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.

    Science.gov (United States)

    Zarate, Yuri A; Bhoj, Elizabeth; Kaylor, Julie; Li, Dong; Tsurusaki, Yoshinori; Miyake, Noriko; Matsumoto, Naomichi; Phadke, Shubha; Escobar, Luis; Irani, Afifa; Hakonarson, Hakon; Schrier Vergano, Samantha A

    2016-08-01

    Coffin-Siris syndrome (CSS, MIM 135900), is a well-described, multiple congenital anomaly syndrome characterized by coarse facial features, hypertrichosis, sparse scalp hair, and hypo/aplastic digital nails and phalanges, typically of the 5th digits. Mutations in the BAF (SWI/SNF)-complex subunits (SMARCA4, SMARCE1, SMARCB1, SMARCA2, ARID1B, and ARID1A) have been shown to cause not only CSS, but also related disorders including Nicolaides-Baraitser (MIM 601358) syndrome and ARID1B-intellectual disability syndrome (MIM 614562). At least 200 individuals with CSS have been found to have a mutation in the BAF pathway. However, to date, only three individuals with CSS have been reported to have pathogenic variants in SMARCE1. We report here three additional individuals with clinical features consistent with CSS and alterations in SMARCE1, one of which is novel. The probands all exhibited dysmorphic facial features, moderate developmental and cognitive delay, poor growth, and hypoplastic digital nails/phalanges, including digits not typically affected in the other genes associated with CSS. Two of the three probands had a variety of different organ system anomalies, including cardiac disease, genitourinary abnormalities, feeding difficulties, and vision abnormalities. The 3rd proband has not had further investigative studies. Although an increasing number of individuals are being diagnosed with disorders in the BAF pathway, SMARCE1 is the least common of these genes. This report doubles the number of probands with these mutations, and allows for better phenotypic information of this rare syndrome. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  19. SMARCE1, a Rare Cause of Coffin–Siris Syndrome: Clinical Description of Three Additional Cases

    Science.gov (United States)

    Zarate, Yuri A.; Bhoj, Elizabeth; Kaylor, Julie; Li, Dong; Tsurusaki, Yoshinori; Miyake, Noriko; Matsumoto, Naomichi; Phadke, Shubha; Escobar, Luis; Irani, Afifa; Hakonarson, Hakon; Schrier Vergano, Samantha A.

    2018-01-01

    Coffin–Siris syndrome (CSS, MIM 135900), is a well-described, multiple congenital anomaly syndrome characterized by coarse facial features, hypertrichosis, sparse scalp hair, and hypo/aplastic digital nails and phalanges, typically of the 5th digits. Mutations in the BAF (SWI/SNF)-complex subunits (SMARCA4, SMARCE1, SMARCB1, SMARCA2, ARID1B, and ARID1A) have been shown to cause not only CSS, but also related disorders including Nicolaides–Baraitser (MIM 601358) syndrome and ARID1B-intellectual disability syndrome (MIM 614562).At least 200 individuals with CSS have been found to have a mutation in the BAF pathway. However, to date, only three individuals with CSS have been reported to have pathogenic variants in SMARCE1. We report here three additional individuals with clinical features consistent with CSS and alterations in SMARCE1, one of which is novel. The probands all exhibited dysmorphic facial features, moderate developmental and cognitive delay, poor growth, and hypoplastic digital nails/phalanges, including digits not typically affected in the other genes associated with CSS. Two of the three probands had a variety of different organ system anomalies, including cardiac disease, genitourinary abnormalities, feeding difficulties, and vision abnormalities. The 3rd proband has not had further investigative studies. Although an increasing number of individuals are being diagnosed with disorders in the BAF pathway, SMARCE1 is the least common of these genes. This report doubles the number of probands with these mutations, and allows for better phenotypic information of this rare syndrome. PMID:27264197

  20. Spontaneous coronary artery dissection causing acute coronary syndrome in a young patient without risk factors

    Directory of Open Access Journals (Sweden)

    Parag Chevli

    2014-09-01

    Full Text Available Spontaneous coronary artery dissection (SCAD is a rare cause of acute myocardial infarction that is more common in younger patients (under age 50 and in women. Although the etiology is not known, some predisposing conditions to SCAD are well known and include Marfan syndrome, pregnancy and peripartum state, drug abuse, and some anatomical abnormalities of the coronary arteries such as aneurysms and severe kinking. We describe a case of SCAD in a young woman who presented with sudden onset of chest pain and was admitted for the treatment of acute coronary syndrome. The coronary angiography showed dissection of the left anterior descending artery. The patient underwent successful percutaneous transluminal coronary angioplasty and stent placement.

  1. Docetaxel induced Lyell′s syndrome: A rare life threatening cause of dermatitis medicamentosas

    Directory of Open Access Journals (Sweden)

    Faheem Arshad

    2014-01-01

    Full Text Available Lyell′s syndrome or toxic epidermal necrolysis (TEN is a life threatening complication mostly caused by medications, characterized by desquamative lesions of the skin and mucous membranes with 30 percent or more epidermal involvement along with mucus membrane. We report a rare case of toxic epidermal necrolysis following administration of docetaxel, a semi-synthetic taxane. A female diagnosed as having metastatic breast carcinoma received chemotherapy in form of docetaxel after being exposed to adjuvant chemotherapy, developed severe involvement of skin and mucus membrane. Diagnosis of TEN was made and she was managed with steroids, antibiotics, intravenous fluids and antiseptic dressings. Common toxicities reported with this drug include myelosuppression, alopecia, nail damage, erythema multiforme major and neuropathy. We believe this is the first case report of Lyell′s syndrome following docetaxel. Main aim of this case is to make physicians aware of the severe skin reactions with docetaxel, measures to avoid them, early recognition and prompt treatment.

  2. Churg-Strauss Syndrome as an Unusual Cause of Dysphagia: Case Report.

    Science.gov (United States)

    Park, Jihye; Im, Sun; Moon, Su-Jin; Park, Geun-Young; Jang, Yongjun; Kim, Yeonjin

    2015-06-01

    Systemic vasculitis is a rare disease, and the diagnosis is very difficult when patient shows atypical symptoms. We experienced an unusual case of dysphagia caused by Churg-Strauss syndrome with lower cranial nerve involvement. A 74-year-old man, with a past history of sinusitis, asthma, and hearing deficiency, was admitted to our department for evaluation of dysphagia. He also complained of recurrent bleeding of nasal cavities and esophagus. Brain magnetic resonance imaging did not show definite abnormality, and electrophysiologic findings were suggestive of mononeuritis multiplex. Dysphagia had not improved after conventional therapy. Biopsy of the nasal cavity showed extravascular eosinophilic infiltration. All these findings suggested a rare form of Churg-Strauss syndrome involving multiple lower cranial nerves. Dysphagia improved after steroid therapy.

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

    Science.gov (United States)

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

    2012-06-28

    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. Blood pressure was normal and polyuria was documented. She began therapy with potassium chloride supplementation and indomethacin. There was clinical improvement and plasma potassium and bicarbonate normalised. The molecular study confirmed it was the classic form of Bartter syndrome. Despite being rare in clinical practice, which may lead to unnecessary medical investigation and diagnosis delay, in a child with failure to thrive, hypochloraemic metabolic alkalosis and hypokalaemia, this diagnosis must be considered.

  4. 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

    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...... in the majority of UHS case subjects. The two enzymes PADI3 and TGM3, responsible for posttranslational protein modifications, and their target structural protein TCHH are all involved in hair shaft formation. Elucidation of the molecular outcomes of the disease-causing mutations by cell culture experiments...... and tridimensional protein models demonstrated clear differences in the structural organization and activity of mutant and wild-type proteins. Scanning electron microscopy observations revealed morphological alterations in hair coat of Padi3 knockout mice. All together, these findings elucidate the molecular genetic...

  5. Delayed diagnosis of pituitary stalk interruption syndrome with severe recurrent hyponatremia caused by adrenal insufficiency

    Directory of Open Access Journals (Sweden)

    Kyung Mi Jang

    2017-09-01

    Full Text Available Pituitary stalk interruption syndrome (PSIS involves the occurrence of a thin or absent pituitary stalk, hypoplasia of the adenohypophysis, and ectopic neurohypophysis. Diagnosis is confirmed using magnetic resonance imaging. Patients with PSIS have a variable degree of pituitary hormone deficiency and a wide spectrum of clinical manifestations. The clinical course of the disease in our patient is similar to that of a syndrome of inappropriate antidiuretic hormone secretion. This is thought to be caused by failure in the suppression of vasopressin secretion due to hypocortisolism. To the best of our knowledge, there is no case report of a patient with PSIS presenting with hyponatremia as the first symptom in Korean children. Herein, we report a patient with PSIS presenting severe recurrent hyponatremia as the first symptom, during adolescence and explain the pathophysiology of hyponatremia with secondary adrenal insufficiency.

  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. Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males.

    Science.gov (United States)

    Masruha, Marcelo R; Caboclo, Luis O S F; Carrete, Henrique; Cendes, Iscia L; Rodrigues, Murilo G; Garzon, Eliana; Yacubian, Elza M T; Sakamoto, Américo C; Sheen, Volney; Harney, Megan; Neal, Jason; Hill, R Sean; Bodell, Adria; Walsh, Christopher; Vilanova, Luiz C P

    2006-01-01

    Familial periventricular heterotopia (PH) represents a disorder of neuronal migration resulting in multiple gray-matter nodules along the lateral ventricular walls. Prior studies have shown that mutations in the filamin A (FLNA) gene can cause PH through an X-linked dominant pattern. Heterozygotic female patients usually remain asymptomatic until the second or third decade of life, when they may have predominantly focal seizures, whereas hemizygotic male fetuses typically die in utero. Recent studies have also reported mutations in FLNA in male patients with PH who are cognitively normal. We describe PH in three male siblings with PH due to FLNA, severe developmental regression, and West syndrome. The study includes the three affected brothers and their parents. Video-EEG recordings and magnetic resonance image (MRI) scanning were performed on all individuals. Mutations for FLNA were detected by using polymerase chain reaction (PCR) on genomic DNA followed by single-stranded conformational polymorphism (SSCP) analysis or sequencing. Two of the siblings are monozygotic twins, and all had West syndrome with hypsarrhythmia on EEG. MRI of the brain revealed periventricular nodules of cerebral gray-matter intensity, typical for PH. Mutational analyses demonstrated a cytosine-to-thymidine missense mutation (c. C1286T), resulting in a threonine-to-methionine amino acid substitution in exon 9 of the FLNA gene. The association between PH and West syndrome, to our knowledge, has not been previously reported. Males with PH have been known to harbor FLNA mutations, although uniformly, they either show early lethality or survive and have a normal intellect. The current studies show that FLNA mutations can cause periventricular heterotopia, developmental regression, and West syndrome in male patients, suggesting that this type of FLNA mutation may contribute to severe neurologic deficits.

  8. 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 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.

  9. When the face says it all: dysmorphology in identifying syndromic causes of epilepsy.

    Science.gov (United States)

    Dixit, Abhijit; Suri, Mohnish

    2016-04-01

    Identifying the underlying cause of epilepsy often helps in choosing the appropriate management, suggests the long-term prognosis and clarifies the risk of the same condition in relatives. Epilepsy has many causes and a small but significant proportion of affected people have an identifiable genetic cause. Here, we discuss the role of genetic testing in adults with epilepsy, focusing on dysmorphic features noticeable on physical examination that might provide a strong clue to a specific genetic syndrome. We give illustrative examples of recognisable facial 'gestalt'. An astute clinician can recognise such clues and significantly shorten the process of making the underlying diagnosis in their patient. 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/

  10. 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

  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. Subacute peripheral and optic neuropathy syndrome with no evidence of a toxic or nutritional cause.

    Science.gov (United States)

    Allen, D; Riordan-Eva, P; Paterson, R W; Hadden, R D M

    2013-08-01

    The syndrome of subacute simultaneous peripheral neuropathy and bilateral optic neuropathy is known to occur in tropical countries, probably due to malnutrition or toxicity, but not often seen in developed countries. We report seven patients in London who were not malnourished or alcoholic, and in whom no clear cause was found. We retrospectively reviewed the case notes and arranged some further investigations. All patients developed peripheral and bilateral optic neuropathy within 6 months. Patients were aged 30-52, and all of Jamaican birth and race but lived in the UK. Most had subacute, painful ataxic sensory axonal neuropathy or neuronopathy, some with myelopathy. Nerve conduction studies revealed minor demyelinating features in two cases. The optic neuropathy was symmetrical, subacute and monophasic, usually with marked reduction in visual acuity. CSF protein concentration was usually elevated but other laboratory investigations were normal. Patients showed only modest improvement at follow-up. These patients share a common clinical and electrophysiological phenotype, age, ethnicity and elevated CSF protein, but otherwise normal laboratory investigations. The syndrome is a cause of significant morbidity in young people. The cause remains uncertain despite thorough investigation. Copyright © 2013 Elsevier B.V. All rights reserved.

  13. 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.

  14. Surfactant for acute respiratory distress syndrome caused by near drowning in a newborn.

    Science.gov (United States)

    Fettah, Nurdan; Dilli, Dilek; Beken, Serdar; Zenciroglu, Aysegul; Okumuş, Nurullah

    2014-03-01

    Near drowning is the term for survival after suffocation caused by submersion in water or another fluid. Pulmonary insufficiency may develop insidiously or suddenly because of near drowning. We want to present a newborn case of acute respiratory distress syndrome caused by near drowning. A 26-day-old boy was brought to the emergency department because of severe respiratory distress. Two hours before admission, the baby suddenly slipped out his mother's hands and fell in the bathtub full of water while bathing. After initial resuscitation, he was transferred to the neonatal intensive care unit for mechanical ventilation. PaO2/FIO2 ratio was 97, with SaO2 of 84%. Bilateral heterogeneous densities were seen on his chest x-ray film. The baby was considered to have acute respiratory distress syndrome. Antibiotics were given to prevent infection. Because conventional therapy failed to improve oxygenation, a single dose of surfactant was tested via an intubation cannula. Four hours later, poractant alfa (Curosurf) administered repeatedly at the same dosage because of hypoxemia (PaO2/FIO2 ratio, 124; SaO2, 88%). Oxygen saturation was increased to more than 90% in 24 hours, which was maintained for 3 days when we were able to wean him from mechanical ventilation. After 7 days, the x-ray film showed considerable clearing of shadows. He was discharged home on the 15th day after full recovery. This case report describes a rapid and persistent improvement after 2 doses of surfactant in acute respiratory distress syndrome with severe oxygenation failure caused by near drowning in a newborn.

  15. The heartstrings mutation in zebrafish causes heart/fin Tbx5 deficiency syndrome.

    Science.gov (United States)

    Garrity, Deborah M; Childs, Sarah; Fishman, Mark C

    2002-10-01

    Holt-Oram syndrome is one of the autosomal dominant human "heart-hand" disorders, with a combination of upper limb malformations and cardiac defects. Holt-Oram syndrome is caused by mutations in the TBX5 gene, a member of a large family of T-box transcription factors that play important roles in cell-type specification and morphogenesis. In a screen for mutations affecting zebrafish cardiac function, we isolated the recessive lethal mutant heartstrings, which lacks pectoral fins and exhibits severe cardiac dysfunction, beginning with a slow heart rate and progressing to a stretched, non-functional heart. We mapped and cloned the heartstrings mutation and find it to encode the zebrafish ortholog of the TBX5 gene. The heartstrings mutation causes premature termination at amino acid 316. Homozygous mutant embryos never develop pectoral fin buds and do not express several markers of early fin differentiation. The total absence of any fin bud differentiation distinguishes heartstrings from most other mutations that affect zebrafish fin development, suggesting that Tbx5 functions very early in the pectoral fin induction pathway. Moderate reduction of Tbx5 by morpholino causes fin malformations, revealing an additional early requirement for Tbx5 in coordinating the axes of fin outgrowth. The heart of heartstrings mutant embryos appears to form and function normally through the early heart tube stage, manifesting only a slight bradycardia compared with wild-type siblings. However, the heart fails to loop and then progressively deteriorates, a process affecting the ventricle as well as the atrium. Relative to mammals, fish require lower levels of Tbx5 to produce malformed appendages and display whole-heart rather than atrial-predominant cardiac defects. However, the syndromic deficiencies of tbx5 mutation are remarkably well retained between fish and mammals.

  16. Hypertrophic Pachymeningitis and the Syndrome of Inappropriate Antidiuretic Hormone Secretion: Coincidence or Cause?

    Science.gov (United States)

    Harsch, Igor Alexander; Schiffer, Anne; Konturek, Peter C

    2017-01-01

    To investigate a potential cause of the syndrome of inappropriate antidiuretic hormone secretion (SIADH). A 70-year-old female patient had nausea and collapsed. Although euvolemic, pathological laboratory findings showed hyponatremia and hypoosmolality, and cerebral magnetic resonance imaging showed hypertrophic pachymeningitis. Secondary hypertrophic pachymeningitis was excluded. Other nonneurological reasons for SIADH were also excluded. Moderate fluid restriction restored an almost normal serum osmolality and sodium. This case of SIADH was conservatively treated with moderate fluid restriction that almost restored normal serum osmolality and sodium levels. © 2017 S. Karger AG, Basel.

  17. Hypothenar hammer syndrome: caused by a muscle anomaly? A case report with review of the literature.

    Science.gov (United States)

    Estermann, Lea; Ducommun, Pascal; Steurer-Dober, Isabelle; Hug, Urs

    2018-05-01

    The hypothenar hammer syndrome (HHS) is a rare entity of secondary Raynaud's phenomenon. The blunt hypothenar trauma causes a lesion of the vessel wall with a consecutive thrombosis or aneurysm of the ulnar artery at the Guyon's canal. Different risk factors are discussed such as nicotine abuse, or a muscle anomaly in the Guyon's canal. To date, there are five case reports published about muscle anomalies and HHS. We present a case of a 51-year-old shipbuilder with a unilateral HHS on his right dominant hand with a bilateral muscle anomaly. We successfully treated the patient by resection of the aneurysm without a resection of the atypical muscle.

  18. Diagnosis and management of intersection syndrome as a cause of overuse wrist pain.

    Science.gov (United States)

    Chatterjee, Robin; Vyas, Jay

    2016-09-28

    Wrist pain due to repetitive motion or overuse is a common presentation in primary care. This case reports the rare condition of intersection syndrome as the cause of the wrist pain in an amateur tennis player. This is a non-infectious, inflammatory process that occurs where tendons in the first extensor compartment intersect the tendons in the second extensor compartment. Suitable history and examination provided the diagnosis, which was confirmed by MRI. Management consisted of early involvement of the multidisciplinary team, patient education, workplace and sporting adaptations, rest, analgesia, reduction of load, protection and immobilisation of the affected joint followed by a period of rehabilitation. 2016 BMJ Publishing Group Ltd.

  19. 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.

  20. A novel nonsense mutation in the WFS1 gene causes the Wolfram syndrome.

    Science.gov (United States)

    Noorian, Shahab; Savad, Shahram; Mohammadi, Davood Shah

    2016-05-01

    Wolfram syndrome is a rare autosomal recessive neurodegenerative disorder, which is mostly caused by mutations in the WFS1 gene. The WFS1 gene product, which is called wolframin, is thought to regulate the function of endoplasmic reticulum. The endoplasmic reticulum has a critical role in protein folding and material transportation within the cell or to the surface of the cell. Identification of new mutations in WFS1 gene will unravel the molecular pathology of WS. The aim of this case report study is to describe a novel mutation in exon 4 of the WFS1 gene (c.330C>A) in a 9-year-old boy with WS.

  1. GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies.

    Directory of Open Access Journals (Sweden)

    Kristoffer Haugarvoll

    Full Text Available With the advent new sequencing technologies, we now have the tools to understand the phenotypic diversity and the common occurrence of phenocopies. We used these techniques to investigate two Norwegian families with an autosomal recessive cerebellar ataxia with cataracts and mental retardation.Single nucleotide polymorphism (SNP chip analysis followed by Exome sequencing identified a 2 bp homozygous deletion in GBA2 in both families, c.1528_1529del [p.Met510Valfs*17]. Furthermore, we report the biochemical characterization of GBA2 in these patients. Our studies show that a reduced activity of GBA2 is sufficient to elevate the levels of glucosylceramide to similar levels as seen in Gaucher disease. Furthermore, leucocytes seem to be the proper enzyme source for in vitro analysis of GBA2 activity.We report GBA2 mutations causing a Marinesco-Sjögren-like syndrome in two Norwegian families. One of the families was originally diagnosed with Marinesco-Sjögren syndrome based on an autosomal recessive cerebellar ataxia with cataracts and mental retardation. Our findings highlight the phenotypic variability associated with GBA2 mutations, and suggest that patients with Marinesco-Sjögren-like syndromes should be tested for mutations in this gene.

  2. 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.

  3. A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome.

    Science.gov (United States)

    Clendenning, M; Senter, L; Hampel, H; Robinson, K Lagerstedt; Sun, S; Buchanan, D; Walsh, M D; Nilbert, M; Green, J; Potter, J; Lindblom, A; de la Chapelle, A

    2008-06-01

    When compared to the other mismatch repair genes involved in Lynch syndrome, the identification of mutations within PMS2 has been limited (PMS2. This disparity is primarily due to complications in the study of this gene caused by interference from pseudogene sequences. Using a recently developed method for detecting PMS2 specific mutations, we have screened 99 patients who are likely candidates for PMS2 mutations based on immunohistochemical analysis. We have identified a frequently occurring frame-shift mutation (c.736_741del6ins11) in 12 ostensibly unrelated Lynch syndrome patients (20% of patients we have identified with a deleterious mutation in PMS2, n = 61). These individuals all display the rare allele (population frequency 10 000 carriers of this mutation in the USA alone. The identification of both the mutation and the common haplotype in one Swedish control sample (n = 225), along with evidence that Lynch syndrome associated cancers are rarer than expected in the probands' families, would suggest that this is a prevalent mutation with reduced penetrance.

  4. Heterozygous Mutations in TREX1 Cause Familial Chilblain Lupus and Dominant Aicardi-Goutières Syndrome

    Science.gov (United States)

    Rice, Gillian; Newman, William G.; Dean, John; Patrick, Teresa; Parmar, Rekha; Flintoff, Kim; Robins, Peter; Harvey, Scott; Hollis, Thomas; O’Hara, Ann; Herrick, Ariane L.; Bowden, Andrew P.; Perrino, Fred W.; Lindahl, Tomas; Barnes, Deborah E.; Crow, Yanick J.

    2007-01-01

    TREX1 constitutes the major 3′→5′ DNA exonuclease activity measured in mammalian cells. Recently, biallelic mutations in TREX1 have been shown to cause Aicardi-Goutières syndrome at the AGS1 locus. Interestingly, Aicardi-Goutières syndrome shows overlap with systemic lupus erythematosus at both clinical and pathological levels. Here, we report a heterozygous TREX1 mutation causing familial chilblain lupus. Additionally, we describe a de novo heterozygous mutation, affecting a critical catalytic residue in TREX1, that results in typical Aicardi-Goutières syndrome. PMID:17357087

  5. 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

  6. Selenium-75-cholesterol imaging and computed tomography of the adrenal glands in differentiating the cause of Cushing's syndrome

    International Nuclear Information System (INIS)

    Miller, J.L.; Smith, J.A.; Mervis, B.; Roman, T.

    1983-01-01

    Measurement of 75 Se-cholesterol (Scintadren) uptake and computed tomography (CT) of the adrenal glands were compared as a means of differentiating the cause of Cushing's syndrome in 11 patients over a 2-year period. Quantitative Scintadren imaging differentiated adrenocorticotrophic hormone (ACTH)-dependent disease from local adrenocortical lesions as the cause of Cushing's syndrome in all the patients studied. CT of the adrenal glands rapidly and accurately detected the adrenal mass lesions in 2 cases and was effective in documenting bilateral hyperplasia due to ectopic ACTH-dependent disease. However, in entopic ACTH (pituitary)-dependent disease the adrenal glands were of normal thickness in all but 2 patients, who had bilateral hyperplasia. Scintadren imaging and CT are useful non-invasive procedures for differentiating local adrenal disease from ACTH-dependent disease as the cause of Cushing's syndrome and should be the initial investigations once a firm clinical and biochemical diagnosis of Cushing's syndrome has been made

  7. Hepatic Veins and Inferior Vena Cava Thrombosis in a Child Treated by Transjugular Intrahepatic Portosystemic Shunt

    International Nuclear Information System (INIS)

    Carnevale, Francisco Cesar; Santos, Aline Cristine Barbosa; Tannuri, Uenis; Cerri, Giovanni Guido

    2010-01-01

    We report the case of a 9-year-old boy with portal hypertension, due to Budd-Chiari syndrome, and retrohepatic inferior vena cava thrombosis, submitted to a transjugular intrahepatic portosystemic shunt (TIPS) by connecting the suprahepatic segment of the inferior vena cava directly to the portal vein. After 3 months, the withdrawal of anticoagulants promoted the thrombosis of the TIPS. At TIPS revision, thrombosis of the TIPS and the main portal vein and clots at the splenic and the superior mesenteric veins were found. Successful angiography treatment was performed by thrombolysis and balloon angioplasty of a severe stenosis at the distal edge of the stent.

  8. 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.

  9. 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

  10. 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

  11. 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.

  12. Mutations in the evolutionarily highly conserved KEOPS complex genes cause nephrotic syndrome with microcephaly

    Science.gov (United States)

    Braun, Daniela A.; Rao, Jia; Mollet, Geraldine; Schapiro, David; Daugeron, Marie-Claire; Tan, Weizhen; Gribouval, Olivier; Boyer, Olivia; Revy, Patrick; Jobst-Schwan, Tilman; Schmidt, Johanna Magdalena; Lawson, Jennifer A.; Schanze, Denny; Ashraf, Shazia; Boddaert, Nathalie; Collinet, Bruno; Martin, Gaëlle; Liger, Dominique; Lovric, Svjetlana; Furlano, Monica; Guerrera, I. Chiara; Sanchez-Ferras, Oraly; Menten, Björn; Vergult, Sarah; De Rocker, Nina; Airik, Merlin; Hermle, Tobias; Shril, Shirlee; Widmeier, Eugen; Gee, Heon Yung; Choi, Won-Il; Sadowski, Carolin E.; Pabst, Werner L.; Warejko, Jillian; Daga, Ankana; LeBerre, Tamara Basta; Matejas, Verena; Behnam, Babak; Beeson, Brendan; Begtrup, Amber; Bruce, Malcolm; Ch'ng, Gaik-Siew; Lin, Shuan-Pei; Chang, Jui-Hsing; Chen, Chao-Huei; Cho, Megan T.; Gipson, Patrick E.; Hsu, Chyong-Hsin; Kari, Jameela A.; Ke, Yu-Yuan; Kiraly-Borri, Cathy; Lai, Wai-ming; Lemyre, Emmanuelle; Littlejohn, Rebecca Okasha; Masri, Amira; Moghtaderi, Mastaneh; Nakamura, Kazuyuki; Praet, Marleen; Prasad, Chitra; Prytula, Agnieszka; Roeder, Elizabeth; Rump, Patrick; Schnur, Rhonda E.; Shiihara, Takashi; Sinha, Manish; Soliman, Neveen A; Soulami, Kenza; Sweetser, David A.; Tsai, Wen-Hui; Tsai, Jeng-Daw; Vester, Udo; Viskochil, David H.; Vatanavicharn, Nithiwat; Waxler, Jessica L.; Wolf, Matthias T.F.; Wong, Sik-Nin; Poduri, Annapurna; Truglio, Gessica; Mane, Shrikant; Lifton, Richard P.; Bouchard, Maxime; Kannu, Peter; Chitayat, David; Magen, Daniella; Calleweart, Bert; van Tilbeurgh, Herman; Zenker, Martin; Antignac, Corinne; Hildebrandt, Friedhelm

    2018-01-01

    Galloway-Mowat syndrome (GAMOS) is a severe autosomal-recessive disease characterized by the combination of early-onset steroid-resistant nephrotic syndrome (SRNS) and microcephaly with brain anomalies. To date, mutations of WDR73 are the only known monogenic cause of GAMOS and in most affected individuals the molecular diagnosis remains elusive. We here identify recessive mutations of OSGEP, TP53RK, TPRKB, or LAGE3, encoding the 4 subunits of the KEOPS complex in 33 individuals of 30 families with GAMOS. CRISPR/Cas9 knockout in zebrafish and mice recapitulates the human phenotype of microcephaly and results in early lethality. Knockdown of OSGEP, TP53RK, or TPRKB inhibits cell proliferation, which human mutations fail to rescue, and knockdown of either gene activates DNA damage response signaling and induces apoptosis. OSGEP and TP53RK molecularly interact and co-localize with the actin-regulating ARP2/3 complex. Furthermore, knockdown of OSGEP and TP53RK induces defects of the actin cytoskeleton and reduces migration rate of human podocytes, an established intermediate phenotype of SRNS. We thus identify 4 novel monogenic causes of GAMOS, describe the first link between KEOPS function and human disease, and delineate potential pathogenic mechanisms. PMID:28805828

  13. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

    Science.gov (United States)

    Braun, Daniela A; Rao, Jia; Mollet, Geraldine; Schapiro, David; Daugeron, Marie-Claire; Tan, Weizhen; Gribouval, Olivier; Boyer, Olivia; Revy, Patrick; Jobst-Schwan, Tilman; Schmidt, Johanna Magdalena; Lawson, Jennifer A; Schanze, Denny; Ashraf, Shazia; Ullmann, Jeremy F P; Hoogstraten, Charlotte A; Boddaert, Nathalie; Collinet, Bruno; Martin, Gaëlle; Liger, Dominique; Lovric, Svjetlana; Furlano, Monica; Guerrera, I Chiara; Sanchez-Ferras, Oraly; Hu, Jennifer F; Boschat, Anne-Claire; Sanquer, Sylvia; Menten, Björn; Vergult, Sarah; De Rocker, Nina; Airik, Merlin; Hermle, Tobias; Shril, Shirlee; Widmeier, Eugen; Gee, Heon Yung; Choi, Won-Il; Sadowski, Carolin E; Pabst, Werner L; Warejko, Jillian K; Daga, Ankana; Basta, Tamara; Matejas, Verena; Scharmann, Karin; Kienast, Sandra D; Behnam, Babak; Beeson, Brendan; Begtrup, Amber; Bruce, Malcolm; Ch'ng, Gaik-Siew; Lin, Shuan-Pei; Chang, Jui-Hsing; Chen, Chao-Huei; Cho, Megan T; Gaffney, Patrick M; Gipson, Patrick E; Hsu, Chyong-Hsin; Kari, Jameela A; Ke, Yu-Yuan; Kiraly-Borri, Cathy; Lai, Wai-Ming; Lemyre, Emmanuelle; Littlejohn, Rebecca Okashah; Masri, Amira; Moghtaderi, Mastaneh; Nakamura, Kazuyuki; Ozaltin, Fatih; Praet, Marleen; Prasad, Chitra; Prytula, Agnieszka; Roeder, Elizabeth R; Rump, Patrick; Schnur, Rhonda E; Shiihara, Takashi; Sinha, Manish D; Soliman, Neveen A; Soulami, Kenza; Sweetser, David A; Tsai, Wen-Hui; Tsai, Jeng-Daw; Topaloglu, Rezan; Vester, Udo; Viskochil, David H; Vatanavicharn, Nithiwat; Waxler, Jessica L; Wierenga, Klaas J; Wolf, Matthias T F; Wong, Sik-Nin; Leidel, Sebastian A; Truglio, Gessica; Dedon, Peter C; Poduri, Annapurna; Mane, Shrikant; Lifton, Richard P; Bouchard, Maxime; Kannu, Peter; Chitayat, David; Magen, Daniella; Callewaert, Bert; van Tilbeurgh, Herman; Zenker, Martin; Antignac, Corinne; Hildebrandt, Friedhelm

    2017-10-01

    Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain anomalies. Here we identified recessive mutations in OSGEP, TP53RK, TPRKB, and LAGE3, genes encoding the four subunits of the KEOPS complex, in 37 individuals from 32 families with GAMOS. CRISPR-Cas9 knockout in zebrafish and mice recapitulated the human phenotype of primary microcephaly and resulted in early lethality. Knockdown of OSGEP, TP53RK, or TPRKB inhibited cell proliferation, which human mutations did not rescue. Furthermore, knockdown of these genes impaired protein translation, caused endoplasmic reticulum stress, activated DNA-damage-response signaling, and ultimately induced apoptosis. Knockdown of OSGEP or TP53RK induced defects in the actin cytoskeleton and decreased the migration rate of human podocytes, an established intermediate phenotype of SRNS. We thus identified four new monogenic causes of GAMOS, describe a link between KEOPS function and human disease, and delineate potential pathogenic mechanisms.

  14. Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy.

    Science.gov (United States)

    Broekaert, Ilse Julia; Becker, Kerstin; Gottschalk, Ingo; Körber, Friederike; Dötsch, Jörg; Thiele, Holger; Altmüller, Janine; Nürnberg, Peter; Hünseler, Christoph; Cirak, Sebahattin

    2018-04-16

    Protein-losing enteropathy (PLE) is characterised by gastrointestinal protein leakage due to loss of mucosal integrity or lymphatic abnormalities. PLE can manifest as congenital diarrhoea and should be differentiated from other congenital diarrhoeal disorders. Primary PLEs are genetically heterogeneous and the underlying genetic defects are currently emerging. We report an infant with fatal PLE for whom we aimed to uncover the underlying pathogenic mutation. We performed whole exome sequencing (WES) for the index patient. Variants were classified based on the American College of Medical Genetics and Genomics guidelines. WES results and our detailed clinical description of the patient were compared with the literature. We discovered a novel homozygous stop mutation (c.988C>T, p.Q330*) in the Plasmalemma Vesicle-Associated Protein ( PLVAP ) gene in a newborn with fatal PLE, facial dysmorphism, and renal, ocular and cardiac anomalies. The Q330* mutation is predicted to result in complete loss of PLVAP protein expression leading to deletion of the diaphragms of endothelial fenestrae, resulting in plasma protein extravasation and PLE. Recently, another single homozygous stop mutation in PLVAP causing lethal PLE in an infant was reported. Our findings validate PLVAP mutations as a cause of syndromic PLE. Prenatal anomalies, severe PLE and syndromic features may guide the diagnosis of this rare disease. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  15. Primary Neuroendocrine Carcinoma of Thymus Caused Cushing Syndrome: 
Surgical Treatment and Prognosis Analysis

    Directory of Open Access Journals (Sweden)

    Li LI

    2015-07-01

    Full Text Available Background and objective 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. Methods 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. Result 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. Conclusion 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.

  16. 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.

  17. 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

  18. Intracerebral hemorrhage associated with Sneddon's syndrome: is ischemia-related angiogenesis the cause? Case report and review of the literature

    International Nuclear Information System (INIS)

    Aquino Gondim, F. de A.; Leacock, R.O.; Subrammanian, T.A.; Cruz-Flores, S.

    2003-01-01

    Sneddon's syndrome is characterized by livedo reticularis and multiple ischemic infarcts often associated with antiphospholipid antibodies. Intracerebral hemorrhage (ICH) is unusual in Sneddon's syndrome and has not been reported as the presenting complaint. We report a 38-year-old woman with a history of two miscarriages, Raynaud's phenomenon and livedo reticularis who presented acutely with ICH. Angiography showed prominent leptomeningeal and transdural anastomoses (pseudoangiomatosis). Anticardiolipin antibodies were positive. A right frontal brain biopsy failed to reveal vasculitis and a skin biopsy was nonspecific. MRI showed residual intracerebral hemorrhage (ICH), diffuse atrophy, multiple small white matter infarcts and leptomeningeal enhancement. This is the first report of Sneddon's syndrome presenting with an ICH. It shares features with the Divry-van Bogaert syndrome. We discuss the cause of the pseudoangiomatosis pattern and its role in the genesis of the hemorrhage and suggest that cerebral angiography should be done in every patient with Sneddon's syndrome, as it could impact therapy. (orig.)

  19. The pacemaker-twiddler's syndrome: an infrequent cause of pacemaker failure.

    Science.gov (United States)

    Salahuddin, Mohammad; Cader, Fathima Aaysha; Nasrin, Sahela; Chowdhury, Mashhud Zia

    2016-01-20

    The pacemaker-twiddler's syndrome is an uncommon cause of pacemaker malfunction. It occurs due to unintentional or deliberate manipulation of the pacemaker pulse generator within its skin pocket by the patient. This causes coiling of the lead and its dislodgement, resulting in failure of ventricular pacing. More commonly reported among elderly females with impaired cognition, the phenomenon usually occurs in the first year following pacemaker implantation. Treatment involves repositioning of the dislodged leads and suture fixation of the lead and pulse generator within its pocket. An 87 year old Bangladeshi lady who underwent a single chamber ventricular pacemaker (VVI mode: i.e. ventricle paced, ventricle sensed, inhibitory mode) implantation with the indication of complete heart block, and presented to us again 7 weeks later, with syncopal attacks. She admitted to repeatedly manipulating the pacemaker generator in her left pectoral region. Physical examination revealed a heart rate of 42 beats/minute, blood pressure 140/80 mmHg and bilateral crackles on lung auscultation. She had no cognitive deficit. An immediate electrocardiogram showed complete heart block with pacemaker spikes and failure to capture. Chest X-ray showed coiled and retracted right ventricular lead and rotated pulse generator. An emergent temporary pace maker was set at a rate of 60 beats per minute. Subsequently, she underwent successful lead repositioning with strong counselling to avoid further twiddling. Twiddler's syndrome should be considered as a cause of pacemaker failure in elderly patients presenting with bradyarrythmias following pacemaker implantation. Chest X-ray and electrocardiograms are simple and easily-available first line investigations for its diagnosis. Lead repositioning is required, however proper patient education and counselling against further manipulation is paramount to long-term management.

  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. Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60

    Science.gov (United States)

    McInerney-Leo, Aideen M.; Schmidts, Miriam; Cortés, Claudio R.; Leo, Paul J.; Gener, Blanca; Courtney, Andrew D.; Gardiner, Brooke; Harris, Jessica A.; Lu, Yeping; Marshall, Mhairi; Scambler, Peter J.; Beales, Philip L.; Brown, Matthew A.; Zankl, Andreas; Mitchison, Hannah M.; Duncan, Emma L.; Wicking, Carol

    2013-01-01

    Short-rib polydactyly syndromes (SRPS I–V) are a group of lethal congenital disorders characterized by shortening of the ribs and long bones, polydactyly, and a range of extraskeletal phenotypes. A number of other disorders in this grouping, including Jeune and Ellis-van Creveld syndromes, have an overlapping but generally milder phenotype. Collectively, these short-rib dysplasias (with or without polydactyly) share a common underlying defect in primary cilium function and form a subset of the ciliopathy disease spectrum. By using whole-exome capture and massive parallel sequencing of DNA from an affected Australian individual with SRPS type III, we detected two novel heterozygous mutations in WDR60, a relatively uncharacterized gene. These mutations segregated appropriately in the unaffected parents and another affected family member, confirming compound heterozygosity, and both were predicted to have a damaging effect on the protein. Analysis of an additional 54 skeletal ciliopathy exomes identified compound heterozygous mutations in WDR60 in a Spanish individual with Jeune syndrome of relatively mild presentation. Of note, these two families share one novel WDR60 missense mutation, although haplotype analysis suggested no shared ancestry. We further show that WDR60 localizes at the base of the primary cilium in wild-type human chondrocytes, and analysis of fibroblasts from affected individuals revealed a defect in ciliogenesis and aberrant accumulation of the GLI2 transcription factor at the centrosome or basal body in the absence of an obvious axoneme. These findings show that WDR60 mutations can cause skeletal ciliopathies and suggest a role for WDR60 in ciliogenesis. PMID:23910462

  2. Ectopic Cushing' syndrome caused by a neuroendocrine carcinoma of the mesentery

    Directory of Open Access Journals (Sweden)

    Petersenn Stephan

    2006-04-01

    Full Text Available Abstract Background ACTH overproduction within the pituitary gland or ectopically leads to hypercortisolism. Here, we report the first case of Cushing' syndrome caused by an ectopic ACTH-secreting neuroendocrine carcinoma of the mesentery. Moreover, diagnostic procedures and pitfalls associated with ectopic ACTH-secreting tumors are demonstrated and discussed. Case presentation A 41 year-old man presented with clinical features and biochemical tests suggestive of ectopic Cushing's syndrome. First, subtotal thyroidectomy was performed without remission of hypercortisolism, because an octreotide scan showed increased activity in the left thyroid gland and an ultrasound revealed nodules in both thyroid lobes one of which was autonomous. In addition, the patient had a 3 mm hypoenhancing lesion of the neurohypophysis and a 1 cm large adrenal tumor. Surgical removal of the pituitary lesion within the posterior lobe did not improve hypercortisolism and we continued to treat the patient with metyrapone to block cortisol production. At 18-months follow-up from initial presentation, we detected an ACTH-producing neuroendocrine carcinoma of the mesentery by using a combination of octreotide scan, computed tomography scan, and positron emission tomography. Intraoperatively, use of a gamma probe after administration of radiolabeled 111In-pentetreotide helped identify the mesenteric neuroendocrine tumor. After removal of this carcinoma, the patient improved clinically. Laboratory testing confirmed remission of hypercortisolism. An octreotide scan 7 months after surgery showed normal results. Conclusion This case underscores the diagnostic challenge in identifying an ectopic ACTH-producing tumor and the pluripotency of cells, in this case of mesenteric cells that can start producing and secreting ACTH. It thereby helps elucidate the pathogenesis of neuroendocrine tumors. This case also suggests that patients with ectopic Cushing's syndrome and an octreotide

  3. Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.

    Science.gov (United States)

    McInerney-Leo, Aideen M; Schmidts, Miriam; Cortés, Claudio R; Leo, Paul J; Gener, Blanca; Courtney, Andrew D; Gardiner, Brooke; Harris, Jessica A; Lu, Yeping; Marshall, Mhairi; Scambler, Peter J; Beales, Philip L; Brown, Matthew A; Zankl, Andreas; Mitchison, Hannah M; Duncan, Emma L; Wicking, Carol

    2013-09-05

    Short-rib polydactyly syndromes (SRPS I-V) are a group of lethal congenital disorders characterized by shortening of the ribs and long bones, polydactyly, and a range of extraskeletal phenotypes. A number of other disorders in this grouping, including Jeune and Ellis-van Creveld syndromes, have an overlapping but generally milder phenotype. Collectively, these short-rib dysplasias (with or without polydactyly) share a common underlying defect in primary cilium function and form a subset of the ciliopathy disease spectrum. By using whole-exome capture and massive parallel sequencing of DNA from an affected Australian individual with SRPS type III, we detected two novel heterozygous mutations in WDR60, a relatively uncharacterized gene. These mutations segregated appropriately in the unaffected parents and another affected family member, confirming compound heterozygosity, and both were predicted to have a damaging effect on the protein. Analysis of an additional 54 skeletal ciliopathy exomes identified compound heterozygous mutations in WDR60 in a Spanish individual with Jeune syndrome of relatively mild presentation. Of note, these two families share one novel WDR60 missense mutation, although haplotype analysis suggested no shared ancestry. We further show that WDR60 localizes at the base of the primary cilium in wild-type human chondrocytes, and analysis of fibroblasts from affected individuals revealed a defect in ciliogenesis and aberrant accumulation of the GLI2 transcription factor at the centrosome or basal body in the absence of an obvious axoneme. These findings show that WDR60 mutations can cause skeletal ciliopathies and suggest a role for WDR60 in ciliogenesis. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  4. 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.

  5. Ectopic Cushing' syndrome caused by a neuroendocrine carcinoma of the mesentery

    International Nuclear Information System (INIS)

    Fasshauer, Mathias; Paschke, Ralf; Koch, Christian A; Lincke, Thomas; Witzigmann, Helmut; Kluge, Regine; Tannapfel, Andrea; Moche, Michael; Buchfelder, Michael; Petersenn, Stephan; Kratzsch, Juergen

    2006-01-01

    ACTH overproduction within the pituitary gland or ectopically leads to hypercortisolism. Here, we report the first case of Cushing' syndrome caused by an ectopic ACTH-secreting neuroendocrine carcinoma of the mesentery. Moreover, diagnostic procedures and pitfalls associated with ectopic ACTH-secreting tumors are demonstrated and discussed. A 41 year-old man presented with clinical features and biochemical tests suggestive of ectopic Cushing's syndrome. First, subtotal thyroidectomy was performed without remission of hypercortisolism, because an octreotide scan showed increased activity in the left thyroid gland and an ultrasound revealed nodules in both thyroid lobes one of which was autonomous. In addition, the patient had a 3 mm hypoenhancing lesion of the neurohypophysis and a 1 cm large adrenal tumor. Surgical removal of the pituitary lesion within the posterior lobe did not improve hypercortisolism and we continued to treat the patient with metyrapone to block cortisol production. At 18-months follow-up from initial presentation, we detected an ACTH-producing neuroendocrine carcinoma of the mesentery by using a combination of octreotide scan, computed tomography scan, and positron emission tomography. Intraoperatively, use of a gamma probe after administration of radiolabeled 111 In-pentetreotide helped identify the mesenteric neuroendocrine tumor. After removal of this carcinoma, the patient improved clinically. Laboratory testing confirmed remission of hypercortisolism. An octreotide scan 7 months after surgery showed normal results. This case underscores the diagnostic challenge in identifying an ectopic ACTH-producing tumor and the pluripotency of cells, in this case of mesenteric cells that can start producing and secreting ACTH. It thereby helps elucidate the pathogenesis of neuroendocrine tumors. This case also suggests that patients with ectopic Cushing's syndrome and an octreotide scan positive in atypical locations may benefit from

  6. Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness.

    Science.gov (United States)

    Pingault, Veronique; Bodereau, Virginie; Baral, Viviane; Marcos, Severine; Watanabe, Yuli; Chaoui, Asma; Fouveaut, Corinne; Leroy, Chrystel; Vérier-Mine, Odile; Francannet, Christine; Dupin-Deguine, Delphine; Archambeaud, Françoise; Kurtz, François-Joseph; Young, Jacques; Bertherat, Jérôme; Marlin, Sandrine; Goossens, Michel; Hardelin, Jean-Pierre; Dodé, Catherine; Bondurand, Nadege

    2013-05-02

    Transcription factor SOX10 plays a role in the maintenance of progenitor cell multipotency, lineage specification, and cell differentiation and is a major actor in the development of the neural crest. It has been implicated in Waardenburg syndrome (WS), a rare disorder characterized by the association between pigmentation abnormalities and deafness, but SOX10 mutations cause a variable phenotype that spreads over the initial limits of the syndrome definition. On the basis of recent findings of olfactory-bulb agenesis in WS individuals, we suspected SOX10 was also involved in Kallmann syndrome (KS). KS is defined by the association between anosmia and hypogonadotropic hypogonadism due to incomplete migration of neuroendocrine gonadotropin-releasing hormone (GnRH) cells along the olfactory, vomeronasal, and terminal nerves. Mutations in any of the nine genes identified to date account for only 30% of the KS cases. KS can be either isolated or associated with a variety of other symptoms, including deafness. This study reports SOX10 loss-of-function mutations in approximately one-third of KS individuals with deafness, indicating a substantial involvement in this clinical condition. Study of SOX10-null mutant mice revealed a developmental role of SOX10 in a subpopulation of glial cells called olfactory ensheathing cells. These mice indeed showed an almost complete absence of these cells along the olfactory nerve pathway, as well as defasciculation and misrouting of the nerve fibers, impaired migration of GnRH cells, and disorganization of the olfactory nerve layer of the olfactory bulbs. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  7. 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.

  8. Short beak and dwarfism syndrome (SBDS) of mule duck is caused by a distinct lineage of Goose parvovirus

    OpenAIRE

    Palya , Vilmos; Zolnai , Anna; Benyeda , Zsofia; Kovács , Edit; Kardi , Veronika; Mató , Tamás

    2009-01-01

    Abstract From early `70s till now numerous cases of ?short beak and dwarfism syndrome? have been reported in mule ducks from France. The animals showed strong growth retardation with smaller beak and tarsus. The syndrome was suggested to be caused by goose parvovirus on the basis of serological investigation, but the causative agent has not been isolated and the disease has not been reproduced by experimental infection so far. The aim of the present study was to characterize the vi...

  9. Restoration of nuclear-import failure caused by triple A syndrome and oxidative stress

    International Nuclear Information System (INIS)

    Kiriyama, Takao; Hirano, Makito; Asai, Hirohide; Ikeda, Masanori; Furiya, Yoshiko; Ueno, Satoshi

    2008-01-01

    Triple A syndrome is an autosomal recessive neurological disease, mimicking motor neuron disease, and is caused by mutant ALADIN, a nuclear-pore complex component. We recently discovered that the pathogenesis involved impaired nuclear import of DNA repair proteins, including DNA ligase I and the cerebellar ataxia causative protein aprataxin. Such impairment was overcome by fusing classical nuclear localization signal (NLS) and 137-aa downstream sequence of XRCC1, designated stretched NLS (stNLS). We report here that the minimum essential sequence of stNLS (mstNLS) is residues 239-276, downsized by more than 100 aa. mstNLS enabled efficient nuclear import of DNA repair proteins in patient fibroblasts, functioned under oxidative stress, and reduced oxidative-stress-induced cell death, more effectively than stNLS. The stress-tolerability of mstNLS was also exerted in control fibroblasts and neuroblastoma cells. These findings may help develop treatments for currently intractable triple A syndrome and other oxidative-stress-related neurological diseases, and contribute to nuclear compartmentalization study

  10. 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.

  11. Surfactant therapy for maternal blood aspiration: an unusual cause of neonatal respiratory distress syndrome.

    Science.gov (United States)

    Celik, Istemi Han; Demirel, Gamze; Canpolat, Fuat Emre; Erdeve, Omer; Dilmen, Ugur

    2012-10-01

    Surfactant replacement therapy is the main treatment of neonatal respiratory distress syndrome. However, surfactant therapy has been shown to be effective in the treatment of other diseases causing neonatal respiratory diseases such as pulmonary hemorrhage, meconium aspiration syndrome, pneumonia/sepsis, pulmonary edema or acute lung injury resulting a secondary surfactant deficiency (SSD). Rarely, as like as in the present patient, exogenous blood aspiration such as breast milk or formula aspiration may lead to SSD. Blood in alveolus leads to a significant biochemical and functional disturbance of the surfactant system and inhibits surfactant production. Here, the authors report a preterm infant of 33 wk gestational age with secondary surfactant deficiency due to maternal blood aspiration because of abruptio placentae. She was received two courses of beractant, a natural bovine surfactant, therapy in 24 h. She was extubated on second day and did not require oxygen on 4(th) day. To the authors' knowledge, this is the first reported case of SSD due to maternal blood aspiration treated with surfactant. In conditions such as abruptio placentae, infant should be protected from blood aspiration and if respiratory distress occurs, surfactant inhibition and need for surfactant administration should be considered.

  12. 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.

  13. 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.

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

    Science.gov (United States)

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

    2017-09-01

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

  15. Auditory hair cell defects as potential cause for sensorineural deafness in Wolf-Hirschhorn syndrome.

    Science.gov (United States)

    Ahmed, Mohi; Ura, Kiyoe; Streit, Andrea

    2015-09-01

    WHSC1 is a histone methyltransferase (HMT) that catalyses the addition of methyl groups to lysine 36 on histone 3. In humans, WHSC1 haploinsufficiency is associated with all known cases of Wolf-Hirschhorn syndrome (WHS). The cardinal feature of WHS is a craniofacial dysmorphism, which is accompanied by sensorineural hearing loss in 15% of individuals with WHS. Here, we show that WHSC1-deficient mice display craniofacial defects that overlap with WHS, including cochlea anomalies. Although auditory hair cells are specified normally, their stereocilia hair bundles required for sound perception fail to develop the appropriate morphology. Furthermore, the orientation and cellular organisation of cochlear hair cells and their innervation are defective. These findings identify, for the first time, the likely cause of sensorineural hearing loss in individuals with WHS. © 2015. Published by The Company of Biologists Ltd.

  16. High circulating ghrelin: a potential cause for hyperphagia and obesity in prader-willi syndrome

    DEFF Research Database (Denmark)

    DelParigi, Angelo; Tschöp, Matthias; Heiman, Mark L

    2002-01-01

    Prader-Willi syndrome (PWS) is a genetic disorder occurring in 1 of 10,000-16,000 live births and is characterized by excessive appetite with progressive massive obesity as well as short stature and mental retardation. Most patients have GH deficiency and hypogonadotropic hypogonadism. The causes...... of the hyperphagia and abnormal GH secretion are unknown. To determine whether ghrelin, a novel GH secretagogue with orexigenic properties, is elevated in PWS, we measured fasting plasma ghrelin concentration; body composition (dual-energy x-ray absorptiometry); and subjective ratings of hunger (visual analog scale......) in seven subjects (6 males and 1 female; age, 26 +/- 7 yr; body fat, 39 +/- 11%, mean +/- SD) with PWS (diagnosis confirmed by genetic test) and 30 healthy subjects (reference population, 15 males and 15 females; age, 32 +/- 7 yr; body fat, 36 +/- 11%) fasted overnight. All subjects were weight stable...

  17. Guillain-Barre syndrome caused by hepatitis E infection: case report and literature review.

    Science.gov (United States)

    Zheng, Xiaoqin; Yu, Liang; Xu, Qiaomai; Gu, Silan; Tang, Lingling

    2018-01-23

    Hepatitis E infection is a global disorder that causes substantial morbidity. Numerous neurologic illnesses, including Guillain-Barre syndrome (GBS), have occurred in patients with hepatitis E virus (HEV) infection. We report a 58 year-old non-immunocompromised man who presented with progressive muscle weakness in all extremities during an episode of acute HEV infection, which was confirmed by measuring the anti-HEV IgM antibodies in the serum. Both cerebrospinal fluid examination and electrophysiological study were in agreement with the diagnosis of HEV-associated GBS. Following the treatment with intravenous immunoglobulin, the patient's neurological condition improved rapidly. HEV infection should be strongly considered in patients with neurological symptoms, especially those with elevated levels of liver enzymes.

  18. Lemierre's Syndrome - A rare cause of disseminated sepsis requiring multi-organ support.

    Science.gov (United States)

    Rae, John; Misselbrook, Katie

    2017-11-01

    Lemierre's syndrome is a rare complication of acute pharyngitis characterised by septicaemia with infective thrombophlebitis of the internal jugular vein, most commonly due to Fusobacterium necrophorum . It characteristically affects healthy young adults causing persistent pyrexia and systemic sepsis presenting several days after an initial pharyngitis. Septic emboli seed via the bloodstream to distant sites including the lung, joints, skin, liver, spleen and brain. Prolonged antimicrobial therapy is required and admission to intensive care common. This once rare condition is increasing in incidence but awareness amongst clinicians is low. We present a classic case in a young man who developed multi-organ failure requiring intensive care support and describe the epidemiology, pathophysiology, microbiology, clinical features and management of the disease.

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

    Science.gov (United States)

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

    2018-01-02

    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. P. destructans displays a large reduction in carbohydrate-utilizing enzymes (CAZymes) and in the predicted secretome (~50%), and an increase in lineage-specific genes. The pathogen has lost a key enzyme, UVE1, in the alternate excision repair (AER) pathway, which is known to contribute to repair of DNA lesions induced by ultraviolet (UV) light. Consistent with a nonfunctional AER pathway, P. destructans is extremely sensitive to UV light, as well as the DNA alkylating agent methyl methanesulfonate (MMS). The differential susceptibility of P. destructans to UV light in comparison to other hibernacula-inhabiting fungi represents a potential "Achilles' heel" of P. destructans that might be exploited for treatment of bats with WNS.

  20. 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.

  1. Cervical spondylotic myelopathy caused by violent motor tics in a child with Tourette syndrome.

    Science.gov (United States)

    Ko, Da-Young; Kim, Seung-Ki; Chae, Jong-Hee; Wang, Kyu-Chang; Phi, Ji Hoon

    2013-02-01

    We report a case of a 9-year-old boy with Tourette syndrome (TS) who developed progressive quadriparesis that was more severe in the upper extremities. He had experienced frequent and violent motor tics consisting of hyperflexion and hyperextension for years. Magnetic resonance imaging (MRI) revealed a focal high-signal intensity cord lesion and adjacent cervical spondylotic changes. Initially, the patient was observed for several months because of diagnostic uncertainty; his neurological status had improved and later worsened again. Anterior cervical discectomy of C3-4 and fusion immediately followed by posterior fixation were performed. After surgery, the neck collar was applied for 6 months. His neurological signs and symptoms improved dramatically. TS with violent neck motion may cause cervical spondylotic myelopathy at an early age. The optimal management is still unclear and attempts to control tics should be paramount. Circumferential fusion with neck bracing represents a viable treatment option.

  2. Auditory hair cell defects as potential cause for sensorineural deafness in Wolf-Hirschhorn syndrome

    Directory of Open Access Journals (Sweden)

    Mohi Ahmed

    2015-09-01

    Full Text Available WHSC1 is a histone methyltransferase (HMT that catalyses the addition of methyl groups to lysine 36 on histone 3. In humans, WHSC1 haploinsufficiency is associated with all known cases of Wolf-Hirschhorn syndrome (WHS. The cardinal feature of WHS is a craniofacial dysmorphism, which is accompanied by sensorineural hearing loss in 15% of individuals with WHS. Here, we show that WHSC1-deficient mice display craniofacial defects that overlap with WHS, including cochlea anomalies. Although auditory hair cells are specified normally, their stereocilia hair bundles required for sound perception fail to develop the appropriate morphology. Furthermore, the orientation and cellular organisation of cochlear hair cells and their innervation are defective. These findings identify, for the first time, the likely cause of sensorineural hearing loss in individuals with WHS.

  3. A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle

    DEFF Research Database (Denmark)

    Agerholm, Jørgen Steen; McEvoy, Fintan; Heegaard, Steffen

    2017-01-01

    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. Results Seven malformed calves were submitted examination. All cases shared a common morphology with the most striking lesions being severe facial...... 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...

  4. Xeroderma Pigmentosum/De Sanctis-Cacchione Syndrome: Unusual Cause of Ataxia

    Directory of Open Access Journals (Sweden)

    Robert Fekete

    2014-03-01

    Full Text Available Introduction: Xeroderma pigmentosum (XP is a rare autosomal recessive disorder of DNA repair, with a prevalence of 1 in 1 million. It may also be a cause of neurological symptoms including sensorineural hearing loss, peripheral neuropathy, ataxia, and chorea. Severe neurological symptoms including mental retardation, short stature, and hypogonadism invoke De Sanctis-Cacchione syndrome (DCS. Case Report: The patient was a 55-year-old woman with a history of mental retardation who developed chorea at age 32 and ataxia at age 37. She had numerous facial scars from 10 prior basal cell carcinoma excisions as well as diminished deep tendon reflexes, bilateral hearing loss, dysphagia, and skin freckling. Brain MRI revealed severe cortical, cerebellar, and brainstem atrophy. Supportive treatment and prevention of further damage from UV light is the mainstay of treatment in XP and DCS. Conclusion: XP and related disorders should be considered in the setting of neurological disorder and multiple cutaneous cancers.

  5. Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.

    Science.gov (United States)

    Le Guen, Tangui; Jullien, Laurent; Touzot, Fabien; Schertzer, Michael; Gaillard, Laetitia; Perderiset, Mylène; Carpentier, Wassila; Nitschke, Patrick; Picard, Capucine; Couillault, Gérard; Soulier, Jean; Fischer, Alain; Callebaut, Isabelle; Jabado, Nada; Londono-Vallejo, Arturo; de Villartay, Jean-Pierre; Revy, Patrick

    2013-08-15

    Hoyeraal-Hreidarsson syndrome (HHS), a severe variant of dyskeratosis congenita (DC), is characterized by early onset bone marrow failure, immunodeficiency and developmental defects. Several factors involved in telomere length maintenance and/or protection are defective in HHS/DC, underlining the relationship between telomere dysfunction and these diseases. By combining whole-genome linkage analysis and exome sequencing, we identified compound heterozygous RTEL1 (regulator of telomere elongation helicase 1) mutations in three patients with HHS from two unrelated families. RTEL1 is a DNA helicase that participates in DNA replication, DNA repair and telomere integrity. We show that, in addition to short telomeres, RTEL1-deficient cells from patients exhibit hallmarks of genome instability, including spontaneous DNA damage, anaphase bridges and telomeric aberrations. Collectively, these results identify RTEL1 as a novel HHS-causing gene and highlight its role as a genomic caretaker in humans.

  6. Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families.

    Science.gov (United States)

    Chang, Wendy; Winder, Thomas L; LeDuc, Charles A; Simpson, Lynn L; Millar, William S; Dungan, Jeffrey; Ginsberg, Norman; Plaga, Stacey; Moore, Steven A; Chung, Wendy K

    2009-06-01

    Walker-Warburg syndrome (WWS) is a genetically heterogeneous congenital muscular dystrophy caused by abnormal glycosylation of alpha-dystroglycan (alpha-DG) that is associated with brain malformations and eye anomalies. The Fukutin (FKTN) gene, which causes autosomal recessively inherited WWS is most often associated with Fukuyama congenital muscular dystrophy in Japan. We describe the clinical features of four nonconsanguinous Ashkenazi Jewish families with WWS and identify the underlying genetic basis for WWS. We screened for mutations in POMGnT1, POMT1, POMT2, and FKTN, genes causing WWS, by dideoxy sequence analysis. We identified an identical homozygous c.1167insA mutation in the FKTN gene on a common haplotype in all four families and identified 2/299 (0.7%) carriers for the c.1167insA mutation among normal American Ashkenazi Jewish adults. These data suggest that the c.1167insA FKTN mutation described by us is a founder mutation that can be used to target diagnostic testing and carrier screening in the Ashkenazi Jewish population. Copyright (c) 2009 John Wiley & Sons, Ltd.

  7. Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families†

    Science.gov (United States)

    Chang, Wendy; Winder, Thomas L.; LeDuc, Charles A.; Simpson, Lynn L.; Millar, William S.; Dungan, Jeffrey; Ginsberg, Norman; Plaga, Stacey; Moore, Steven A.; Chung, Wendy K.

    2009-01-01

    Objective Walker-Warburg syndrome (WWS) is a genetically heterogeneous congenital muscular dystrophy caused by abnormal glycosylation of α-dystroglycan (α-DG) that is associated with brain malformations and eye anomalies. The Fukutin (FKTN) gene, which causes autosomal recessively inherited WWS is most often associated with Fukuyama congenital muscular dystrophy in Japan. We describe the clinical features of four nonconsanguinous Ashkenazi Jewish families with WWS and identify the underlying genetic basis for WWS. Method We screened for mutations in POMGnT1, POMT1, POMT2, and FKTN, genes causing WWS, by dideoxy sequence analysis. Results We identified an identical homozygous c.1167insA mutation in the FKTN gene on a common haplotype in all four families and identified 2/299 (0.7%) carriers for the c.1167insA mutation among normal American Ashkenazi Jewish adults. Conclusion These data suggest that the c.1167insA FKTN mutation described by us is a founder mutation that can be used to target diagnostic testing and carrier screening in the Ashkenazi Jewish population. PMID:19266496

  8. Recent Advances in Cerebellar Ischemic Stroke Syndromes Causing Vertigo and Hearing Loss.

    Science.gov (United States)

    Kim, Hyun-Ah; Yi, Hyon-Ah; Lee, Hyung

    2016-12-01

    Cerebellar ischemic stroke is one of the common causes of vascular vertigo. It usually accompanies other neurological symptoms or signs, but a small infarct in the cerebellum can present with vertigo without other localizing symptoms. Approximately 11 % of the patients with isolated cerebellar infarction simulated acute peripheral vestibulopathy, and most patients had an infarct in the territory of the medial branch of the posterior inferior cerebellar artery (PICA). A head impulse test can differentiate acute isolated vertigo associated with PICA territory cerebellar infarction from more benign disorders involving the inner ear. Acute hearing loss (AHL) of a vascular cause is mostly associated with cerebellar infarction in the territory of the anterior inferior cerebellar artery (AICA), but PICA territory cerebellar infarction rarely causes AHL. To date, at least eight subgroups of AICA territory infarction have been identified according to the pattern of neurotological presentations, among which the most common pattern of audiovestibular dysfunction is the combined loss of auditory and vestibular functions. Sometimes acute isolated audiovestibular loss can be the initial symptom of impending posterior circulation ischemic stroke (particularly within the territory of the AICA). Audiovestibular loss from cerebellar infarction has a good long-term outcome than previously thought. Approximately half of patients with superior cerebellar artery territory (SCA) cerebellar infarction experienced true vertigo, suggesting that the vertigo and nystagmus in the SCA territory cerebellar infarctions are more common than previously thought. In this article, recent findings on clinical features of vertigo and hearing loss from cerebellar ischemic stroke syndrome are summarized.

  9. Obstructive sleep apnea syndrome as a novel cause for Ménière's disease.

    Science.gov (United States)

    Nakayama, Meiho; Kabaya, Kayoko

    2013-10-01

    Several recent reports have described the relation between sleep disorders and inner ear function. There are also many reports that insomnia is observed in Ménière's patients. However, the possibility that obstructive sleep apnea syndrome (OSAS) might affect Ménière's disease or other neurotological consequences was not noticed, until studies using polysomnography for these patients. OSAS may cause not only vestibular but also auditory dysfunction. Several reports suggest that insufficient supply of blood via the vertebral basilar artery, which supplies the inner ear, may cause hydropic distension of the endolymphatic system and lead to Ménière's disease. However, few people noticed that in OSAS this insufficient supply might be exacerbated in the night while patients are sleeping. Even more, we should note that Ménière's patients may not only suffer from insomnia, but also that the impaired sleep might be caused by OSAS. Physicians routinely prescribe benzodiazepines or other drugs that have hypnotic, muscle relaxing, antianxiety, and anticonvulsant properties for insomnia, but these properties may have the effect of aggravating OSAS symptoms. Continuous positive airway pressure (CPAP) is an effective therapy used worldwide for the treatment of OSAS. CPAP or surgeries for OSAS may also be useful as one aspect of treatment for Ménière's disease patients with OSAS.

  10. A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl.

    Science.gov (United States)

    Yuge, Kotaro; Iwama, Kazuhiro; Yonee, Chihiro; Matsufuji, Mayumi; Sano, Nozomi; Saikusa, Tomoko; Yae, Yukako; Yamashita, Yushiro; Mizuguchi, Takeshi; Matsumoto, Naomichi; Matsuishi, Toyojiro

    2018-06-01

    Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by mutations in Methyl-CpG-binding protein 2 (MECP2); however, mutations in various other genes may lead to RTT-like phenotypes. Here, we report the first case of a Japanese girl with RTT caused by a novel syntaxin-binding protein 1 (STXBP1) frameshift mutation (c.60delG, p.Lys21Argfs*16). She showed epilepsy at one year of age, regression of acquired psychomotor abilities thereafter, and exhibited stereotypic hand and limb movements at 3 years of age. Her epilepsy onset was earlier than is typical for RTT patients. However, she fully met the 2010 diagnostic criteria of typical RTT. STXBP1 mutations cause early infantile epileptic encephalopathy (EIEE), various intractable epilepsies, and neurodevelopmental disorders. However, the case described here presented a unique clinical presentation of typical RTT without EIEE and a novel STXBP1 mutation. Copyright © 2018 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  11. [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 (Pdisease 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.

  12. 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.

  13. FAM20A mutations can cause enamel-renal syndrome (ERS.

    Directory of Open Access Journals (Sweden)

    Shih-Kai Wang

    Full Text Available Enamel-renal syndrome (ERS is an autosomal recessive disorder characterized by severe enamel hypoplasia, failed tooth eruption, intrapulpal calcifications, enlarged gingiva, and nephrocalcinosis. Recently, mutations in FAM20A were reported to cause amelogenesis imperfecta and gingival fibromatosis syndrome (AIGFS, which closely resembles ERS except for the renal calcifications. We characterized three families with AIGFS and identified, in each case, recessive FAM20A mutations: family 1 (c.992G>A; g.63853G>A; p.Gly331Asp, family 2 (c.720-2A>G; g.62232A>G; p.Gln241_Arg271del, and family 3 (c.406C>T; g.50213C>T; p.Arg136* and c.1432C>T; g.68284C>T; p.Arg478*. Significantly, a kidney ultrasound of the family 2 proband revealed nephrocalcinosis, revising the diagnosis from AIGFS to ERS. By characterizing teeth extracted from the family 3 proband, we demonstrated that FAM20A(-/- molars lacked true enamel, showed extensive crown and root resorption, hypercementosis, and partial replacement of resorbed mineral with bone or coalesced mineral spheres. Supported by the observation of severe ectopic calcifications in the kidneys of Fam20a null mice, we conclude that FAM20A, which has a kinase homology domain and localizes to the Golgi, is a putative Golgi kinase that plays a significant role in the regulation of biomineralization processes, and that mutations in FAM20A cause both AIGFS and ERS.

  14. Cushing syndrome

    Science.gov (United States)

    Hypercortisolism; Cortisol excess; Glucocorticoid excess - Cushing syndrome ... The most common cause of Cushing syndrome is taking too much ... Cushing syndrome . Prednisone, dexamethasone, and prednisolone ...

  15. 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

  16. Experimental infection of bats with Geomyces destructans causes white-nose syndrome.

    Science.gov (United States)

    Lorch, Jeffrey M; Meteyer, Carol U; Behr, Melissa J; Boyles, Justin G; Cryan, Paul M; Hicks, Alan C; Ballmann, Anne E; Coleman, Jeremy T H; Redell, David N; Reeder, DeeAnn M; Blehert, David S

    2011-10-26

    White-nose syndrome (WNS) has caused recent catastrophic declines among multiple species of bats in eastern North America. The disease's name derives from a visually apparent white growth of the newly discovered fungus Geomyces destructans on the skin (including the muzzle) of hibernating bats. Colonization of skin by this fungus is associated with characteristic cutaneous lesions that are the only consistent pathological finding related to WNS. However, the role of G. destructans in WNS remains controversial because evidence to implicate the fungus as the primary cause of this disease is lacking. The debate is fuelled, in part, by the assumption that fungal infections in mammals are most commonly associated with immune system dysfunction. Additionally, the recent discovery that G. destructans commonly colonizes the skin of bats of Europe, where no unusual bat mortality events have been reported, has generated further speculation that the fungus is an opportunistic pathogen and that other unidentified factors are the primary cause of WNS. Here we demonstrate that exposure of healthy little brown bats (Myotis lucifugus) to pure cultures of G. destructans causes WNS. Live G. destructans was subsequently cultured from diseased bats, successfully fulfilling established criteria for the determination of G. destructans as a primary pathogen. We also confirmed that WNS can be transmitted from infected bats to healthy bats through direct contact. Our results provide the first direct evidence that G. destructans is the causal agent of WNS and that the recent emergence of WNS in North America may represent translocation of the fungus to a region with a naive population of animals. Demonstration of causality is an instrumental step in elucidating the pathogenesis and epidemiology of WNS and in guiding management actions to preserve bat populations against the novel threat posed by this devastating infectious disease.

  17. Experimental infection of bats with Geomyces destructans causes white-nose syndrome

    Science.gov (United States)

    Lorch, J.M.; Meteyer, C.U.; Behr, M.J.; Boyles, J.G.; Cryan, P.M.; Hicks, A.C.; Ballmann, A.E.; Coleman, J.T.H.; Redell, D.N.; Reeder, D.M.; Blehert, D.S.

    2011-01-01

    White-nose syndrome (WNS) has caused recent catastrophic declines among multiple species of bats in eastern North America. The disease's name derives from a visually apparent white growth of the newly discovered fungus Geomyces destructans on the skin (including the muzzle) of hibernating bats. Colonization of skin by this fungus is associated with characteristic cutaneous lesions that are the only consistent pathological finding related to WNS. However, the role of G. destructans in WNS remains controversial because evidence to implicate the fungus as the primary cause of this disease is lacking. The debate is fuelled, in part, by the assumption that fungal infections in mammals are most commonly associated with immune system dysfunction. Additionally, the recent discovery that G. destructans commonly colonizes the skin of bats of Europe, where no unusual bat mortality events have been reported, has generated further speculation that the fungus is an opportunistic pathogen and that other unidentified factors are the primary cause of WNS. Here we demonstrate that exposure of healthy little brown bats (Myotis lucifugus) to pure cultures of G. destructans causes WNS. Live G. destructans was subsequently cultured from diseased bats, successfully fulfilling established criteria for the determination of G. destructans as a primary pathogen. We also confirmed that WNS can be transmitted from infected bats to healthy bats through direct contact. Our results provide the first direct evidence that G. destructans is the causal agent of WNS and that the recent emergence of WNS in North America may represent translocation of the fungus to a region with a naive population of animals. Demonstration of causality is an instrumental step in elucidating the pathogenesis and epidemiology of WNS and in guiding management actions to preserve bat populations against the novel threat posed by this devastating infectious disease. ?? 2011 Macmillan Publishers Limited. All rights reserved.

  18. 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

  19. Gene repair of an Usher syndrome causing mutation by zinc-finger nuclease mediated homologous recombination.

    Science.gov (United States)

    Overlack, Nora; Goldmann, Tobias; Wolfrum, Uwe; Nagel-Wolfrum, Kerstin

    2012-06-26

    Human Usher syndrome (USH) is the most frequent cause of inherited deaf-blindness. It is clinically and genetically heterogeneous, assigned to three clinical types of which the most severe type is USH1. No effective treatment for the ophthalmic component of USH exists. Gene augmentation is an attractive strategy for hereditary retinal diseases. However, several USH genes, like USH1C, are expressed in various isoforms, hampering gene augmentation. As an alternative treatment strategy, we applied the zinc-finger nuclease (ZFN) technology for targeted gene repair of an USH1C, causing mutation by homologous recombination. We designed ZFNs customized for the p.R31X nonsense mutation in Ush1c. We evaluated ZFNs for DNA cleavage capability and analyzed ZFNs biocompatibilities by XTT assays. We demonstrated ZFNs mediated gene repair on genomic level by digestion assays and DNA sequencing, and on protein level by indirect immunofluorescence and Western blot analyses. The specifically designed ZFNs did not show cytotoxic effects in a p.R31X cell line. We demonstrated that ZFN induced cleavage of their target sequence. We showed that simultaneous application of ZFN and rescue DNA induced gene repair of the disease-causing mutation on the genomic level, resulting in recovery of protein expression. In our present study, we analyzed for the first time ZFN-activated gene repair of an USH gene. The data highlight the ability of ZFNs to induce targeted homologous recombination and mediate gene repair in USH. We provide further evidence that the ZFN technology holds great potential to recover disease-causing mutations in inherited retinal disorders.

  20. 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

  1. 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.

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

    Science.gov (United States)

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

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

  3. Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons

    Energy Technology Data Exchange (ETDEWEB)

    Nijbroek, G.; Sood, S.; McIntosh, I. [John Hopkins Univ. School of Medicine, Baltimore, MD (United States)] [and others

    1995-07-01

    Mutations in the gene encoding fibrillin-1 (FBN1), a component of the extracellular microfibril, cause the Marfan syndrome (MFS). This statement is supported by the observations that the classic Marfan phenotype cosegregates with intragenic and/or flanking marker alleles in all families tested and that a significant number of FBN1 mutations have been identified in affected individuals. We have now devised a method to screen the entire coding sequence and flanking splice junctions of FBN1. On completion for a panel of nine probands with classic MFS, six new mutations were identified that accounted for disease in seven (78%) of nine patients. Nine additional new mutations have been characterized in the early stages of a larger screening project. These 15 mutations were equally distributed throughout the gene and, with one exception, were specific to single families. One-third of mutations created premature termination codons, and 6 of 15 substituted residues with putative significance for calcium finding to epidermal growth factor (EGF)-like domains. Mutations causing severe and rapidly progressive disease that presents in the neonatal period can occur in a larger region of the gene than previously demonstrated, and the nature of the mutation is as important a determinant as its location, in predisposing to this phenotype. 56 refs., 5 figs., 3 tabs.

  4. 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.

  5. Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype.

    Science.gov (United States)

    Koenighofer, M; Hung, C Y; McCauley, J L; Dallman, J; Back, E J; Mihalek, I; Gripp, K W; Sol-Church, K; Rusconi, P; Zhang, Z; Shi, G-X; Andres, D A; Bodamer, O A

    2016-03-01

    RASopathies are a clinically heterogeneous group of conditions caused by mutations in 1 of 16 proteins in the RAS-mitogen activated protein kinase (RAS-MAPK) pathway. Recently, mutations in RIT1 were identified as a novel cause for Noonan syndrome. Here we provide additional functional evidence for a causal role of RIT1 mutations and expand the associated phenotypic spectrum. We identified two de novo missense variants p.Met90Ile and p.Ala57Gly. Both variants resulted in increased MEK-ERK signaling compared to wild-type, underscoring gain-of-function as the primary functional mechanism. Introduction of p.Met90Ile and p.Ala57Gly into zebrafish embryos reproduced not only aspects of the human phenotype but also revealed abnormalities of eye development, emphasizing the importance of RIT1 for spatial and temporal organization of the growing organism. In addition, we observed severe lymphedema of the lower extremity and genitalia in one patient. We provide additional evidence for a causal relationship between pathogenic mutations in RIT1, increased RAS-MAPK/MEK-ERK signaling and the clinical phenotype. The mutant RIT1 protein may possess reduced GTPase activity or a diminished ability to interact with cellular GTPase activating proteins; however the precise mechanism remains unknown. The phenotypic spectrum is likely to expand and includes lymphedema of the lower extremities in addition to nuchal hygroma. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  6. Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant.

    Science.gov (United States)

    Graziano, Claudio; Wischmeijer, Anita; Pippucci, Tommaso; Fusco, Carlo; Diquigiovanni, Chiara; Nõukas, Margit; Sauk, Martin; Kurg, Ants; Rivieri, Francesca; Blau, Nenad; Hoffmann, Georg F; Chaubey, Alka; Schwartz, Charles E; Romeo, Giovanni; Bonora, Elena; Garavelli, Livia; Seri, Marco

    2015-04-01

    The causative variant in a consanguineous family in which the three patients (two siblings and a cousin) presented with intellectual disability, Marfanoid habitus, craniofacial dysmorphisms, chronic diarrhea and progressive kyphoscoliosis, has been identified through whole exome sequencing (WES) analysis. WES study identified a homozygous DDC variant in the patients, c.1123C>T, resulting in p.Arg375Cys missense substitution. Mutations in DDC cause a recessive metabolic disorder (aromatic amino acid decarboxylase, AADC, deficiency, OMIM #608643) characterized by hypotonia, oculogyric crises, excessive sweating, temperature instability, dystonia, severe neurologic dysfunction in infancy, and specific abnormalities of neurotransmitters and their metabolites in the cerebrospinal fluid (CSF). In our family, analysis of neurotransmitters and their metabolites in patient's CSF shows a pattern compatible with AADC deficiency, although the clinical signs are different from the classic form. Our work expands the phenotypic spectrum associated with DDC variants, which therefore can cause an additional novel syndrome without typical movement abnormalities. Copyright © 2015 Elsevier B.V. All rights reserved.

  7. Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.

    Science.gov (United States)

    Nguyen, Thanh-Minh T; Hull, Sarah; Roepman, Ronald; van den Born, L Ingeborgh; Oud, Machteld M; de Vrieze, Erik; Hetterschijt, Lisette; Letteboer, Stef J F; van Beersum, Sylvia E C; Blokland, Ellen A; Yntema, Helger G; Cremers, Frans P M; van der Zwaag, Paul A; Arno, Gavin; van Wijk, Erwin; Webster, Andrew R; Haer-Wigman, Lonneke

    2017-09-01

    Recent findings suggesting that Abelson helper integration site 1 ( AHI1 ) is involved in non-syndromic retinal disease have been debated, as the functional significance of identified missense variants was uncertain. We assessed whether AHI1 variants cause non-syndromic retinitis pigmentosa (RP). Exome sequencing was performed in three probands with RP. The effects of the identified missense variants in AHI1 were predicted by three-dimensional structure homology modelling. Ciliary parameters were evaluated in patient's fibroblasts, and recombinant mutant proteins were expressed in ciliated retinal pigmented epithelium cells. In the three patients with RP, three sets of compound heterozygous variants were detected in AHI1 (c.2174G>A; p.Trp725* and c.2258A>T; p.Asp753Val, c.660delC; p.Ser221Glnfs*10 and c.2090C>T; p.Pro697Leu, c.2087A>G; p.His696Arg and c.2429C>T; p.Pro810Leu). All four missense variants were present in the conserved WD40 domain of Jouberin, the ciliary protein encoded by AHI1 , with variable predicted implications for the domain structure. No significant changes in the percentage of ciliated cells, nor in cilium length or intraflagellar transport were detected. However, expression of mutant recombinant Jouberin in ciliated cells showed a significantly decreased enrichment at the ciliary base. This report confirms that mutations in AHI1 can underlie autosomal recessive RP. Moreover, it structurally and functionally validates the effect of the RP-associated AHI1 variants on protein function, thus proposing a new genotype-phenotype correlation for AHI1 mutation associated retinal ciliopathies. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  8. Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.

    Science.gov (United States)

    Oud, Machteld M; Tuijnenburg, Paul; Hempel, Maja; van Vlies, Naomi; Ren, Zemin; Ferdinandusse, Sacha; Jansen, Machiel H; Santer, René; Johannsen, Jessika; Bacchelli, Chiara; Alders, Marielle; Li, Rui; Davies, Rosalind; Dupuis, Lucie; Cale, Catherine M; Wanders, Ronald J A; Pals, Steven T; Ocaka, Louise; James, Chela; Müller, Ingo; Lehmberg, Kai; Strom, Tim; Engels, Hartmut; Williams, Hywel J; Beales, Phil; Roepman, Ronald; Dias, Patricia; Brunner, Han G; Cobben, Jan-Maarten; Hall, Christine; Hartley, Taila; Le Quesne Stabej, Polona; Mendoza-Londono, Roberto; Davies, E Graham; de Sousa, Sérgio B; Lessel, Davor; Arts, Heleen H; Kuijpers, Taco W

    2017-02-02

    EXTL3 regulates the biosynthesis of heparan sulfate (HS), important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs). By whole-exome sequencing, we identified homozygous missense mutations c.1382C>T, c.1537C>T, c.1970A>G, and c.2008T>G in EXTL3 in nine affected individuals from five unrelated families. Notably, we found the identical homozygous missense mutation c.1382C>T (p.Pro461Leu) in four affected individuals from two unrelated families. Affected individuals presented with variable skeletal abnormalities and neurodevelopmental defects. Severe combined immunodeficiency (SCID) with a complete absence of T cells was observed in three families. EXTL3 was most abundant in hematopoietic stem cells and early progenitor T cells, which is in line with a SCID phenotype at the level of early T cell development in the thymus. To provide further support for the hypothesis that mutations in EXTL3 cause a neuro-immuno-skeletal dysplasia syndrome, and to gain insight into the pathogenesis of the disorder, we analyzed the localization of EXTL3 in fibroblasts derived from affected individuals and determined glycosaminoglycan concentrations in these cells as well as in urine and blood. We observed abnormal glycosaminoglycan concentrations and increased concentrations of the non-sulfated chondroitin disaccharide D0a0 and the disaccharide D0a4 in serum and urine of all analyzed affected individuals. In summary, we show that biallelic mutations in EXTL3 disturb glycosaminoglycan synthesis and thus lead to a recognizable syndrome characterized by variable expression of skeletal, neurological, and immunological abnormalities. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  9. A Marfan syndrome-like phenotype caused by a neocentromeric supernumerary ring chromosome 15.

    Science.gov (United States)

    Quinonez, Shane C; Gelehrter, Thomas D; Uhlmann, Wendy R

    2017-01-01

    Small supernumerary marker chromosomes (sSMC) are abnormal chromosomes that cannot be characterized by standard banding cytogenetic techniques. A minority of sSMC contain a neocentromere, which is an ectopic centromere lacking the characteristic alpha-satellite DNA. The phenotypic manifestations of sSMC and neocentromeric sSMC are variable and range from severe intellectual disability and multiple congenital anomalies to a normal phenotype. Here we report a patient with a diagnosis of Marfan syndrome and infertility found to have an abnormal karyotype consisting of a chromosome 15 deletion and a ring-type sSMC likely stabilized by a neocentromere derived via a mechanism initially described by Barbara McClintock in 1938. Analysis of the sSMC identified that it contained the deleted chromosome 15 material and also one copy of FBN1, the gene responsible for Marfan syndrome. We propose that the patient's diagnosis arose from disruption of the FBN1 allele on the sSMC. To date, a total of 29 patients have been reported with an sSMC derived from a chromosomal deletion. We review these cases with a specific focus on the resultant phenotypes and note significant difference between this class of sSMC and other types of sSMC. Through this review we also identified a patient with a clinical diagnosis of neurofibromatosis type 1 who lacked a family history of the condition but was found to have a chromosome 17-derived sSMC that likely contained NF1 and caused the patient's disorder. We also review the genetic counseling implications and recommendations for a patient or family harboring an sSMC. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  10. ABCD syndrome is caused by a homozygous mutation in the EDNRB gene.

    Science.gov (United States)

    Verheij, Joke B G M; Kunze, Jürgen; Osinga, Jan; van Essen, Anthonie J; Hofstra, Robert M W

    2002-03-15

    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 deafness; hypopigmentation of skin, hair, and irides; and HSCR. Therefore, we screened DNA of the index patient of the ABCD syndrome family for mutations in the endothelin B receptor (EDNRB) gene, a gene known to be involved in Shah-Waardenburg syndrome. A homozygous nonsense mutation in exon 3 (R201X) of the EDNRB gene was found. We therefore suggest that ABCD syndrome is not a separate entity, but an expression of Shah-Waardenburg syndrome.

  11. Contiguous gene deletion of chromosome 2p16.3-p21 as a cause of Lynch syndrome.

    Science.gov (United States)

    Salo-Mullen, Erin E; Lynn, Patricio B; Wang, Lu; Walsh, Michael; Gopalan, Anuradha; Shia, Jinru; Tran, Christina; Man, Fung Ying; McBride, Sean; Schattner, Mark; Zhang, Liying; Weiser, Martin R; Stadler, Zsofia K

    2018-01-01

    Lynch syndrome is an autosomal dominant condition caused by pathogenic mutations in the DNA mismatch repair (MMR) genes. Although commonly associated with clinical features such as intellectual disability and congenital anomalies, contiguous gene deletions may also result in cancer predisposition syndromes. We report on a 52-year-old male with Lynch syndrome caused by deletion of chromosome 2p16.3-p21. The patient had intellectual disability and presented with a prostatic adenocarcinoma with an incidentally identified synchronous sigmoid adenocarcinoma that exhibited deficient MMR with an absence of MSH2 and MSH6 protein expression. Family history was unrevealing. Physical exam revealed short stature, brachycephaly with a narrow forehead and short philtrum, brachydactyly of the hands, palmar transverse crease, broad and small feet with hyperpigmentation of the soles. The patient underwent total colectomy with ileorectal anastomosis for a pT3N1 sigmoid adenocarcinoma. Germline genetic testing of the MSH2, MSH6, and EPCAM genes revealed full gene deletions. SNP-array based DNA copy number analysis identified a deletion of 4.8 Mb at 2p16.3-p21. In addition to the three Lynch syndrome associated genes, the deleted chromosomal section encompassed genes including NRXN1, CRIPT, CALM2, FBXO11, LHCGR, MCFD2, TTC7A, EPAS1, PRKCE, and 15 others. Contiguous gene deletions have been described in other inherited cancer predisposition syndromes, such as Familial Adenomatous Polyposis. Our report and review of the literature suggests that contiguous gene deletion within the 2p16-p21 chromosomal region is a rare cause of Lynch syndrome, but presents with distinct phenotypic features, highlighting the need for recognition and awareness of this syndromic entity.

  12. Bartter and Gitelman syndromes: Spectrum of clinical manifestations caused by different mutations

    Science.gov (United States)

    Al Shibli, Amar; Narchi, Hassib

    2015-01-01

    Bartter and Gitelman syndromes (BS and GS) are inherited disorders resulting in defects in renal tubular handling of sodium, potassium and chloride. Previously considered as genotypic and phenotypic heterogeneous diseases, recent evidence suggests that they constitute a spectrum of disease caused by different genetic mutations with the molecular defects of chloride reabsorption originating at different sites of the nephron in each condition. Although they share some characteristic metabolic abnormalities such as hypokalemia, metabolic alkalosis, hyperplasia of the juxtaglomerular apparatus with hyperreninemia, hyperaldosteronism, the clinical and laboratory manifestations may not always allow distinction between them. Diuretics tests, measuring the changes in urinary fractional excretion of chloride from baseline after administration of either hydrochlorothiazide or furosemide show very little change (< 2.3%) in the fractional excretion of chloride from baseline in GS when compared with BS, except when BS is associated with KCNJ1 mutations where a good response to both diuretics exists. The diuretic test is not recommended for infants or young children with suspected BS because of a higher risk of volume depletion in such children. Clinical symptoms and biochemical markers of GS and classic form of BS (type III) may overlap and thus genetic analysis may specify the real cause of symptoms. However, although genetic analysis is available, its use remains limited because of limited availability, large gene dimensions, lack of hot-spot mutations, heavy workup time and costs involved. Furthermore, considerable overlap exists between the different genotypes and phenotypes. Although BS and GS usually have distinct presentations and are associated with specific gene mutations, there remains considerable overlap between their phenotypes and genotypes. Thus, they are better described as a spectrum of clinical manifestations caused by different gene mutations. PMID:26140272

  13. [Application of continuous renal replacement therapy in the treatment of myonephropathic metabolic syndrome caused by acute lower extremity ischemia].

    Science.gov (United States)

    Sun, Jianping; Wang, Tengke; Zhang, Jinglan

    2014-09-16

    To summarize the experiences of using continuous renal replacement therapy in the treatment of myonephropathic metabolic syndrome caused by acute lower limb ischemia. Retrospective study of patients diagnosed acute lower limb ischemia with surgical treatment between January 2008 and December 2013, among which 22 patients with myonephropathic metabolic syndrome received continuous renal replacement therapy. Summarize the change tendency of myoglobin, urine volume and serum creatinine levels during treatment and analysis the condition changes and prognosis of the patients. Among them, 2 patients were amputated and two died after surgery. The major causes of death were acute renal failure, metabolic acidosis, circulation failure and liver failure, etc. Myoglobin was significantly higher at Day 1 after surgery than that was before surgery (P metabolic syndrome, early targeted continuous renal replacement therapy may decrease the serum concentrations of myoglobin and CK, improve urine volume, maintain homeostasis, prevent renal function deterioration and improve the prognosis of patients. And it is highly recommended.

  14. 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.

  15. Whole-Genome Characterization and Strain Comparison of VT2f-Producing Escherichia coli Causing Hemolytic Uremic Syndrome.

    NARCIS (Netherlands)

    Grande, Laura; Michelacci, Valeria; Bondì, Roslen; Gigliucci, Federica; Franz, Eelco; Badouei, Mahdi Askari; Schlager, Sabine; Minelli, Fabio; Tozzoli, Rosangela; Caprioli, Alfredo; Morabito, Stefano

    2016-01-01

    Verotoxigenic Escherichia coli infections in humans cause disease ranging from uncomplicated intestinal illnesses to bloody diarrhea and systemic sequelae, such as hemolytic uremic syndrome (HUS). Previous research indicated that pigeons may be a reservoir for a population of verotoxigenic E. coli

  16. Lacrimal punctum occlusion in the treatment of severe keratoconjunctivitis sicca caused by Sjogren syndrome - A uniocular evaluation

    NARCIS (Netherlands)

    Mansour, Khaled; Leonhardt, Carolien J.; Kalk, Wouter W.; Bootsma, Hendrika; Bruin, Klaas J.; Blanksma, Lieuwe J.

    Purpose: A controlled uniocular study to evaluate the short-term efficacy of lacrimal punctum occlusion in the treatment of severe dry eye caused by Sjogren syndrome. Methods: Uniocular punctum occlusion by punctum plug in the upper and lower puncta in 1 eye was performed in 20 patients with severe

  17. 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...

  18. Clinical features and molecular genetic analysis of a boy with Prader-Willi syndrome caused by an imprinting defect

    DEFF Research Database (Denmark)

    Schulze, A; Hansen, Claus; Baekgaard, P

    1997-01-01

    Prader-Willi syndrome (PWS) is a neuroendocrine disorder caused by a non-functioning paternally derived gene(s) within the chromosome region 15q11-q13. Most cases result from microscopically visible deletions of paternal origin, or maternal uniparental disomy of chromosome 15. In both instances n...

  19. 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

  20. 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....

  1. Invasive liver abscess syndrome caused by Klebsiella pneumoniae with definite K2 serotyping in Japan: a case report.

    Science.gov (United States)

    Seo, Ryota; Kudo, Daisuke; Gu, Yoshiaki; Yano, Hisakazu; Aoyagi, Tetsuji; Omura, Taku; Irino, Shigemi; Kaku, Mitsuo; Kushimoto, Shigeki

    2016-12-01

    Klebsiella pneumonia is a well-known human pathogen, and recently, a distinct invasive syndrome caused by K. pneumoniae serotypes K1 and K2 has been recognized in Southeast Asia. This syndrome is characterized by primary liver abscess and extrahepatic complications resulting from bacteremic dissemination. We report the first adult case of primary liver abscess caused by the definite K2 serotyped pathogen, with endogenous endophthalmitis in Japan. A 64-year-old woman was admitted to a nearby hospital for a high fever and diarrhea. She had visual loss of her right eye, renal dysfunction, and thrombocytopenia within 24 h from admission. She was transferred to our institution. On admission, she had no alteration of mental status and normal vital signs; however, she had almost complete ablepsia of the right eye. Laboratory data showed severe inflammation, liver dysfunction, thrombocytopenia, an increased serum creatinine level, and coagulopathy. Computed tomography showed a low density area in the right lobe of the liver. Invasive liver abscess syndrome probably caused by K. pneumonia was highly suspected and immediately administered broad-spectrum antibiotics for severe sepsis. Concurrently, endogenous endophthalmitis was diagnosed, and we performed vitrectomy on the day of admission. The blood culture showed K. pneumoniae infection. Percutaneous drainage of the liver abscess was also performed. Although she was discharged in a good general condition on day 22, she had complete ablepsia of the right eye. The K2A gene was detected by polymerase chain reaction (PCR), which is consistent with the K2 serotype. PCR was also positive for the virulence-associated gene rmpA. Final diagnosis was invasive liver abscess syndrome caused by K2 serotype K. pneumonia. Although the primary liver abscess caused by K. pneumoniae with a hypermucoviscous phenotype is infrequently reported outside Southeast Asia, physicians should recognize this syndrome, and appropriate diagnosis and

  2. Marfan syndrome--a diagnostic challenge caused by phenotypic and genetic heterogeneity.

    Science.gov (United States)

    Baumgartner, C; Mátyás, G; Steinmann, B; Baumgartner, D

    2005-01-01

    Marfan syndrome (MFS) is an autosomal dominant inherited connective tissue disorder caused by mutations in the fibrillin-1 (FBN1) gene with variable clinical manifestations in the cardiovascular, musculoskeletal and ocular systems. Data of moleculor genetic analysis and a catalogue of clinical manifestations including aortic elastic parameters were mined in order to (i) assess aortic abnormality before and during medical treatment, and to (ii) identify novel correlations between the genotype and phenotype of the disease using hierarchical cluster analysis and logistic regression analysis. A score measure describing the similarity between a patient's clinical symptoms and a characteristic phenotype class was introduced. A probabilistic model for monitoring the loss of aortic elasticity was built on merely aortic parameters of 34 patients with classic MFS and 43 control subjects showing a sensitivity of 82% and a specificity of 96%. The clinical phenotypes of 100 individuals with classical or suspected MFS were clustered yielding four different phenotypic expressions. The highest correlation was found between FBN1 missense mutations, which manifested as ectopia lentis, skeletal major and skin minor criteria, and two out of four clustered phenotypes. The probability of the presence of a missense mutation in both phenotype classes is approximately 70%. Monitoring of aortic elastic properties during medical treatment may serve as additional criterion to indicate elective surgical interventions. Genotype-phenotype correlation may contribute to anticipate the clinical consequences of specific FBN1 mutations more comprehensively and may be helpful to identify MFS patients at risk at on early stage of disease.

  3. MASA syndrome is caused by mutations in the neural cell adhesion gene, L1CAM

    Energy Technology Data Exchange (ETDEWEB)

    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.

  4. Growth without growth hormone in combined pituitary hormone deficiency caused by pituitary stalk interruption syndrome

    Directory of Open Access Journals (Sweden)

    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.

  5. Temperature-dependent growth of Geomyces destructans, the fungus that causes bat white-nose syndrome.

    Directory of Open Access Journals (Sweden)

    Michelle L Verant

    Full Text Available White-nose syndrome (WNS is an emergent disease estimated to have killed over five million North American bats. Caused by the psychrophilic fungus Geomyces destructans, WNS specifically affects bats during hibernation. We describe temperature-dependent growth performance and morphology for six independent isolates of G. destructans from North America and Europe. Thermal performance curves for all isolates displayed an intermediate peak with rapid decline in performance above the peak. Optimal temperatures for growth were between 12.5 and 15.8°C, and the upper critical temperature for growth was between 19.0 and 19.8°C. Growth rates varied across isolates, irrespective of geographic origin, and above 12°C all isolates displayed atypical morphology that may have implications for proliferation of the fungus. This study demonstrates that small variations in temperature, consistent with those inherent of bat hibernacula, affect growth performance and physiology of G. destructans, which may influence temperature-dependent progression and severity of WNS in wild bats.

  6. Temperature-dependent growth of Geomyces destructans, the fungus that causes bat white-nose syndrome.

    Science.gov (United States)

    Verant, Michelle L; Boyles, Justin G; Waldrep, William; Wibbelt, Gudrun; Blehert, David S

    2012-01-01

    White-nose syndrome (WNS) is an emergent disease estimated to have killed over five million North American bats. Caused by the psychrophilic fungus Geomyces destructans, WNS specifically affects bats during hibernation. We describe temperature-dependent growth performance and morphology for six independent isolates of G. destructans from North America and Europe. Thermal performance curves for all isolates displayed an intermediate peak with rapid decline in performance above the peak. Optimal temperatures for growth were between 12.5 and 15.8°C, and the upper critical temperature for growth was between 19.0 and 19.8°C. Growth rates varied across isolates, irrespective of geographic origin, and above 12°C all isolates displayed atypical morphology that may have implications for proliferation of the fungus. This study demonstrates that small variations in temperature, consistent with those inherent of bat hibernacula, affect growth performance and physiology of G. destructans, which may influence temperature-dependent progression and severity of WNS in wild bats.

  7. Causes of Cancer Death Among First-Degree Relatives in Japanese Families with Lynch Syndrome.

    Science.gov (United States)

    Tanakaya, Kohji; Yamaguchi, Tatsuro; Ishikawa, Hideki; Hinoi, Takao; Furukawa, Yoichi; Hirata, Keiji; Saida, Yoshihisa; Shimokawa, Mototsugu; Arai, Masami; Matsubara, Nagahide; Tomita, Naohiro; Tamura, Kazuo; Sugano, Kokichi; Ishioka, Chikashi; Yoshida, Teruhiko; Ishida, Hideyuki; Watanabe, Toshiaki; Sugihara, Kenichi

    2016-04-01

    To elucidate the causes of cancer death in Japanese families with Lynch syndrome (LS). The distributions of cancer deaths in 485 individuals from 67 families with LS (35, 30, and two families with MutL homologue 1 (MLH1), MSH2, and MSH6 gene mutations, respectively), obtained from the Registry of the Japanese Society for Cancer of the Colon and Rectum were analyzed. Among 98 cancer deaths of first-degree relatives of unknown mutation status, 53%, 19%, 13% (among females), 7% (among females) and 5% were due to colorectal, gastric, uterine, ovarian, and hepatobiliary cancer, respectively. The proportion of deaths from extra-colonic cancer was significantly higher in families with MSH2 mutation than in those with MLH1 mutation (p=0.003). In addition to colonic and uterine cancer, management and surveillance targeting gastric, ovarian and hepatobiliary cancer are considered important for Japanese families with LS. Extra-colonic cancer in families with MSH2 mutation might require for more intensive surveillance. Copyright© 2016 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.

  8. Non-Obstructive Middle Lobe Syndrome: An Unusual Cause of Recurrent Pneumonia in an Elderly Woman

    Directory of Open Access Journals (Sweden)

    João Rua

    2017-11-01

    Full Text Available An 84-year-old woman had five episodes of pneumonia in 4 months. Despite extensive comorbidities and advanced age, her health status was good and the recurrence seemed unjustified. Exhaustive background investigation revealed 14 episodes of right-sided pneumonias during the 3 previous years and an inconclusive investigation with CT of the thorax and bronchofibroscopy, despite some fibrotic and atelectasic alterations in the right middle lobe. A new right-sided x-ray showed a wedge-shaped density extending anteriorly and inferiorly from the hilum, and CT of the thorax revealed aggravated middle lobe abnormalities with thickening of the bronchial wall and segment atelectasis, without any visible airway obstruction. After extensive work-up had excluded other causes of recurrent pneumonia and immunodeficiency, a non-obstructive middle lobe syndrome (MLS was deemed responsible for the repeated episodes of pneumonia. MLS is characterised by chronic hypoventilation and atelectasis of the middle lobe, facilitating secretion accumulation, chronic inflammation and repeated infection. After treatment with bronchodilators and immunostimulants was initiated, the patient experienced no recurrences for several months.

  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. Stevens–Johnson syndrome/toxic epidermal necrolysis caused by cefadroxil in a cat

    Directory of Open Access Journals (Sweden)

    Roberta Sartori

    2016-06-01

    Full Text Available Case summary A 5-year-old, spayed female, indoor-only domestic shorthair cat was referred with an acute history of multifocal cutaneous and mucocutaneous erosive-ulcerative lesions and skin detachment. The lesions occurred on the seventh day of therapy with cefadroxil. Erosive-ulcerative and occasionally crusted lesions were apparent on the medial and lateral canthus of both eyes, ventral neck, abdomen, perivulvar region, periungual skin and medial aspect of the front and hindlimbs. Diffuse and severe exfoliation was present on the dorsum and tail base and in both external ear canals. The cat was also dehydrated, tachycardic and febrile. Histopathological examination revealed extensive epidermal ulceration, interface dermatitis with vacuolar degeneration, apoptosis at multiple epidermal levels and basal, suprabasal and spinous dermoepidermal detachment. The histopathological diagnosis was consistent with Stevens–Johnson syndrome/toxic epidermal necrolysis (SJS/TEN. The recently reported Algorithm of Drug Causality in Epidermal Necrolysis (ALDEN, currently used in human medicine, was applied and a score of +6 was calculated; this supported the view that SJS/TEN in this cat was very likely to be associated with cefadroxil administration. Relevance and novel information This clinical communication reports cefadroxil as a very probable cause of SJS/TEN in a cat; the ALDEN was applied in this case and supported diagnosis.

  11. 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.

  12. Computer vision syndrome: a review of ocular causes and potential treatments.

    Science.gov (United States)

    Rosenfield, Mark

    2011-09-01

    Computer vision syndrome (CVS) is the combination of eye and vision problems associated with the use of computers. In modern western society the use of computers for both vocational and avocational activities is almost universal. However, CVS may have a significant impact not only on visual comfort but also occupational productivity since between 64% and 90% of computer users experience visual symptoms which may include eyestrain, headaches, ocular discomfort, dry eye, diplopia and blurred vision either at near or when looking into the distance after prolonged computer use. This paper reviews the principal ocular causes for this condition, namely oculomotor anomalies and dry eye. Accommodation and vergence responses to electronic screens appear to be similar to those found when viewing printed materials, whereas the prevalence of dry eye symptoms is greater during computer operation. The latter is probably due to a decrease in blink rate and blink amplitude, as well as increased corneal exposure resulting from the monitor frequently being positioned in primary gaze. However, the efficacy of proposed treatments to reduce symptoms of CVS is unproven. A better understanding of the physiology underlying CVS is critical to allow more accurate diagnosis and treatment. This will enable practitioners to optimize visual comfort and efficiency during computer operation. Ophthalmic & Physiological Optics © 2011 The College of Optometrists.

  13. Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

    Science.gov (United States)

    Tham, Emma; Lindstrand, Anna; Santani, Avni; Malmgren, Helena; Nesbitt, Addie; Dubbs, Holly A; Zackai, Elaine H; Parker, Michael J; Millan, Francisca; Rosenbaum, Kenneth; Wilson, Golder N; Nordgren, Ann

    2015-03-05

    Through a multi-center collaboration study, we here report six individuals from five unrelated families, with mutations in KAT6A/MOZ detected by whole-exome sequencing. All five different de novo heterozygous truncating mutations were located in the C-terminal transactivation domain of KAT6A: NM_001099412.1: c.3116_3117 delCT, p.(Ser1039∗); c.3830_3831insTT, p.(Arg1278Serfs∗17); c.3879 dupA, p.(Glu1294Argfs∗19); c.4108G>T p.(Glu1370∗) and c.4292 dupT, p.(Leu1431Phefs∗8). An additional subject with a 0.23 MB microdeletion including the entire KAT6A reading frame was identified with genome-wide array comparative genomic hybridization. Finally, by detailed clinical characterization we provide evidence that heterozygous mutations in KAT6A cause a distinct intellectual disability syndrome. The common phenotype includes hypotonia, intellectual disability, early feeding and oromotor difficulties, microcephaly and/or craniosynostosis, and cardiac defects in combination with subtle facial features such as bitemporal narrowing, broad nasal tip, thin upper lip, posteriorly rotated or low-set ears, and microretrognathia. The identification of human subjects complements previous work from mice and zebrafish where knockouts of Kat6a/kat6a lead to developmental defects. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  14. A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1.

    Directory of Open Access Journals (Sweden)

    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.

  15. Scalp eschar and neck lymphadenopathy after tick bite: an emerging syndrome with multiple causes.

    Science.gov (United States)

    Dubourg, G; Socolovschi, C; Del Giudice, P; Fournier, P E; Raoult, D

    2014-08-01

    The clinical and epidemiological features of 56 patients with scalp eschar associated with neck lymphadenopathy after a tick bite (SENLAT) syndrome were evaluated at the National French Rickettsial Center. Eschar swabs, crusts, and biopsies as well as ticks and blood samples were acquired for molecular and serological assays. SENLAT predominantly affects children (p < 0.05), followed by 40- to 70-year-olds, and it is found mostly in women (p < 0.05). The seasonal distribution has two peaks: one in the spring (55%) and one in the autumn (30%). The etiological agent was identified in 18 cases, which include Rickettsia slovaca in 13 cases with incidences of two co-infections with Rickettsia raoultii and one case caused by Rickettsia sibirica mongolitimonae. Other possible agents that were found in attached ticks were Candidatus R. rioja, Coxiella burnetii, and Borrelia burgdorferi. The tick vector was Dermacentor marginatus in almost all cases, with the exception of one case, in which Ixodes ricinus was identified as the vector. Our findings show that SENLAT is a clinical entity characterized as a local infection controlled by the immune system and is neither pathogen- nor vector-specific.

  16. Hepatic sinusoidal obstruction syndrome caused by herbal medicine: CT and MRI features

    International Nuclear Information System (INIS)

    Zhou, Hua; Lou, Hai Yan; Wang, Yi Xiang J.; Xu, Xiao Jun; Zhang, Min Ming

    2014-01-01

    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.

  17. Chronic Pain Syndrome Caused by a Bird's Nest Filter: First Case Report

    International Nuclear Information System (INIS)

    Al-Basheer, Mamoun Ahmad; Hamilton, Mark; Holdaway, Chris

    2008-01-01

    AimTo report the first case of a Bird's Nest IVC filter causing a chronic pain syndrome lasting 13 years through IVC wall penetration and subsequent break off of one of the filter struts.Materials and ResultsA 43-year-old female presented with a 13-year history of abdominal pain following uneventful insertion of a Bird's Nest vena cava filter through a right internal jugular percutanous approach. A year following the procedure, CT scan revealed one arm of the filter to be outside IVC borders. Nine years from the date of insertion the nature of the pain changed acutely following a five feet jump to more localized RUQ pain worse with twisting movements. A CT scan showed the strut to have pierced the IVC wall and penetrated the Unicate process of pancreas. Plain x-rays taken at different times in February 2006 showed one of the struts to be free floating in the peritoneal cavity. The floating strut was removed surgically from the wall of the Ileum. Postoperative recovery was uneventful and the patient was discharged pain free three days later.ConclusionChronic pain is an added complication of BNF devices. Although rare, it further emphasizes the need for long-term follow up of patients with IVC filters.

  18. FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome

    Directory of Open Access Journals (Sweden)

    Dahl Niklas

    2011-03-01

    Full Text Available Abstract Background Ichthyosis Prematurity Syndrome (IPS is an autosomal recessive disorder characterized by premature birth, non-scaly ichthyosis and atopic manifestations. The disease was recently shown to be caused by mutations in the gene encoding the fatty acid transport protein 4 (FATP4 and a specific reduction in the incorporation of very long chain fatty acids (VLCFA into cellular lipids. Findings We screened probands from five families segregating IPS for mutations in the FATP4 gene. Four probands were compound heterozygous for four different mutations of which three are novel. Four patients were heterozygous and one patient homozygous for the previously reported non-sense mutation p.C168X (c.504c > a. All patients had clinical characteristics of IPS and a similar clinical course. Conclusions Missense mutations and non-sense mutations in FATP4 are associated with similar clinical features suggesting that missense mutations have a severe impact on FATP4 function. The results broaden the mutational spectrum in FATP4 associated with IPS for molecular diagnosis of and further functional analysis of FATP4.

  19. 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.

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

    Science.gov (United States)

    Lund, Caroline; Striano, Pasquale; Sorte, Hanne Sørmo; Parisi, Pasquale; Iacomino, Michele; Sheng, Ying; Vigeland, Magnus D; Øye, Anne-Marte; Møller, Rikke Steensbjerre; Selmer, Kaja K; Zara, Federico

    2016-09-01

    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 in the X chromosome, including the analysis of variants with a low number of sequencing reads, in case of somatic mosaicism. For 2 of the patients, we also sequenced the exome of the parents to search for de novo mutations. We did not identify any genetic variants likely to be damaging. Only one single missense variant was identified by the de novo analyses of the 2 trios, and this was considered benign. The failure to identify a disease gene in this study may be due to technical limitations of our study design, including the possibility that the genetic aberration leading to AS is situated in a non-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 and apply a sequencing depth so that also low-grade somatic mosaicism can be detected.

  1. Translational read-through of a nonsense mutation causing Bartter syndrome.

    Science.gov (United States)

    Cho, Hee Yeon; Lee, Beom Hee; Cheong, Hae Il

    2013-06-01

    Bartter syndrome (BS) is classified into 5 genotypes according to underlying mutant genes and BS III is caused by loss-of-function mutations in the CLCNKB gene encoding for basolateral ClC-Kb. BS III is the most common genotype in Korean patients with BS and W610X is the most common CLCNKB mutation in Korean BS III. In this study, we tested the hypothesis that the CLCNKB W610X mutation can be rescued in vitro using aminoglycoside antibiotics, which are known to induce translational read-through of a nonsense mutation. The CLCNKB cDNA was cloned into a eukaryotic expression vector and the W610X nonsense mutation was generated by site-directed mutagenesis. Cultured polarized MDCK cells were transfected with the vectors, and the read-through was induced using an aminoglycoside derivative, G418. Cellular expression of the target protein was monitored via immunohistochemistry. While cells transfected with the mutant CLCNKB failed to express ClC-Kb, G418 treatment of the cells induced the full-length protein expression, which was localized to the basolateral plasma membranes. It is demonstrated that the W610X mutation in CLCNKB can be a good candidate for trial of translational read-through induction as a therapeutic modality.

  2. Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.

    Science.gov (United States)

    Deng, Zhong; Glousker, Galina; Molczan, Aliah; Fox, Alan J; Lamm, Noa; Dheekollu, Jayaraju; Weizman, Orr-El; Schertzer, Michael; Wang, Zhuo; Vladimirova, Olga; Schug, Jonathan; Aker, Memet; Londoño-Vallejo, Arturo; Kaestner, Klaus H; Lieberman, Paul M; Tzfati, Yehuda

    2013-09-03

    Telomeres repress the DNA damage response at the natural chromosome ends to prevent cell-cycle arrest and maintain genome stability. Telomeres are elongated by telomerase in a tightly regulated manner to ensure a sufficient number of cell divisions throughout life, yet prevent unlimited cell division and cancer development. Hoyeraal-Hreidarsson syndrome (HHS) is characterized by accelerated telomere shortening and a broad range of pathologies, including bone marrow failure, immunodeficiency, and developmental defects. HHS-causing mutations have previously been found in telomerase and the shelterin component telomeric repeat binding factor 1 (TRF1)-interacting nuclear factor 2 (TIN2). We identified by whole-genome exome sequencing compound heterozygous mutations in four siblings affected with HHS, in the gene encoding the regulator of telomere elongation helicase 1 (RTEL1). Rtel1 was identified in mouse by its genetic association with telomere length. However, its mechanism of action and whether it regulates telomere length in human remained unknown. Lymphoblastoid cell lines obtained from a patient and from the healthy parents carrying heterozygous RTEL1 mutations displayed telomere shortening, fragility and fusion, and growth defects in culture. Ectopic expression of WT RTEL1 suppressed the telomere shortening and growth defect, confirming the causal role of the RTEL1 mutations in HHS and demonstrating the essential function of human RTEL1 in telomere protection and elongation. Finally, we show that human RTEL1 interacts with the shelterin protein TRF1, providing a potential recruitment mechanism of RTEL1 to telomeres.

  3. Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal–Hreidarsson syndrome

    Science.gov (United States)

    Deng, Zhong; Glousker, Galina; Molczan, Aliah; Fox, Alan J.; Lamm, Noa; Dheekollu, Jayaraju; Weizman, Orr-El; Schertzer, Michael; Wang, Zhuo; Vladimirova, Olga; Schug, Jonathan; Aker, Memet; Londoño-Vallejo, Arturo; Kaestner, Klaus H.; Lieberman, Paul M.; Tzfati, Yehuda

    2013-01-01

    Telomeres repress the DNA damage response at the natural chromosome ends to prevent cell-cycle arrest and maintain genome stability. Telomeres are elongated by telomerase in a tightly regulated manner to ensure a sufficient number of cell divisions throughout life, yet prevent unlimited cell division and cancer development. Hoyeraal–Hreidarsson syndrome (HHS) is characterized by accelerated telomere shortening and a broad range of pathologies, including bone marrow failure, immunodeficiency, and developmental defects. HHS-causing mutations have previously been found in telomerase and the shelterin component telomeric repeat binding factor 1 (TRF1)-interacting nuclear factor 2 (TIN2). We identified by whole-genome exome sequencing compound heterozygous mutations in four siblings affected with HHS, in the gene encoding the regulator of telomere elongation helicase 1 (RTEL1). Rtel1 was identified in mouse by its genetic association with telomere length. However, its mechanism of action and whether it regulates telomere length in human remained unknown. Lymphoblastoid cell lines obtained from a patient and from the healthy parents carrying heterozygous RTEL1 mutations displayed telomere shortening, fragility and fusion, and growth defects in culture. Ectopic expression of WT RTEL1 suppressed the telomere shortening and growth defect, confirming the causal role of the RTEL1 mutations in HHS and demonstrating the essential function of human RTEL1 in telomere protection and elongation. Finally, we show that human RTEL1 interacts with the shelterin protein TRF1, providing a potential recruitment mechanism of RTEL1 to telomeres. PMID:23959892

  4. 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, 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.

    2011-01-01

    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. PMID:21763481

  5. Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.

    Science.gov (United States)

    Garone, Caterina; D'Souza, Aaron R; Dallabona, Cristina; Lodi, Tiziana; Rebelo-Guiomar, Pedro; Rorbach, Joanna; Donati, Maria Alice; Procopio, Elena; Montomoli, Martino; Guerrini, Renzo; Zeviani, Massimo; Calvo, Sarah E; Mootha, Vamsi K; DiMauro, Salvatore; Ferrero, Ileana; Minczuk, Michal

    2017-11-01

    Defects in nuclear-encoded proteins of the mitochondrial translation machinery cause early-onset and tissue-specific deficiency of one or more OXPHOS complexes. Here, we report a 7-year-old Italian boy with childhood-onset rapidly progressive encephalomyopathy and stroke-like episodes. Multiple OXPHOS defects and decreased mtDNA copy number (40%) were detected in muscle homogenate. Clinical features combined with low level of plasma citrulline were highly suggestive of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome, however, the common m.3243 A > G mutation was excluded. Targeted exome sequencing of genes encoding the mitochondrial proteome identified a damaging mutation, c.567 G > A, affecting a highly conserved amino acid residue (p.Gly189Arg) of the MRM2 protein. MRM2 has never before been linked to a human disease and encodes an enzyme responsible for 2'-O-methyl modification at position U1369 in the human mitochondrial 16S rRNA. We generated a knockout yeast model for the orthologous gene that showed a defect in respiration and the reduction of the 2'-O-methyl modification at the equivalent position (U2791) in the yeast mitochondrial 21S rRNA. Complementation with the mrm2 allele carrying the equivalent yeast mutation failed to rescue the respiratory phenotype, which was instead completely rescued by expressing the wild-type allele. Our findings establish that defective MRM2 causes a MELAS-like phenotype, and suggests the genetic screening of the MRM2 gene in patients with a m.3243 A > G negative MELAS-like presentation. © The Author 2017. Published by Oxford University Press.

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

    Science.gov (United States)

    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 S; 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; Thomas, Simon; Touraine, Renaud; Verloes, Alain; Vincent-Delorme, Catherine; Wincent, Josephine; Peters, Dorien J M; Bartsch, Oliver; Larizza, Lidia; Lacombe, Didier; Hennekam, Raoul C

    2016-12-01

    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 act in chromatin remodeling and encode for transcriptional co-activators interacting with >400 proteins. Up to now 26 individuals with an EP300 mutation have been published. Here, we describe the phenotype and genotype of 42 unpublished RSTS patients carrying EP300 mutations and intragenic deletions and offer an update on another 10 patients. We compare the data to 308 individuals with CREBBP mutations. We demonstrate that EP300 mutations cause a phenotype that typically resembles the classical RSTS phenotype due to CREBBP mutations to a great extent, although most facial signs are less marked with the exception of a low-hanging columella. The limb anomalies are more similar to those in CREBBP mutated individuals except for angulation of thumbs and halluces which is very uncommon in EP300 mutated individuals. The intellectual disability is variable but typically less marked whereas the microcephaly is more common. All types of mutations occur but truncating mutations and small rearrangements are most common (86%). Missense mutations in the HAT domain are associated with a classical RSTS phenotype but otherwise no genotype-phenotype correlation is detected. Pre-eclampsia occurs in 12/52 mothers of EP300 mutated individuals versus in 2/59 mothers of CREBBP mutated individuals, making pregnancy with an EP300 mutated fetus the strongest known predictor for pre-eclampsia. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  7. [Neurological syndromes linked with the intake of plants and fungi containing a toxic component (I). Neurotoxic syndromes caused by the ingestion of plants, seeds and fruits].

    Science.gov (United States)

    Carod-Artal, F J

    A wide range of plants, seeds and fruits used for nutritional and medicinal purposes can give rise to neurotoxic symptoms. We review the neurological pathology associated with the acute or chronic consumption of plants, seeds and fruits in human beings and in animals. Of the plants that can trigger acute neurotoxic syndromes in humans, some of the most notable include Mandragora officinalis, Datura stramonium, Conium maculatum (hemlock), Coriaria myrtifolia (redoul), Ricinus communis, Gloriosa superba, Catharanthus roseus, Karwinskia humboldtiana and Podophyllum pelatum. We also survey different neurological syndromes linked with the ingestion of vegetable foodstuffs that are rich in cyanogenic glycosides, Jamaican vomiting sickness caused by Blighia sapida, Parkinson dementia ALS of Guam island and exposition to Cycas circinalis, Guadeloupean parkinsonism and exposition to Annonaceae, konzo caused by ingestion of wild manioc and neurolathyrism from ingestion of Lathyrus sativus, the last two being models of motor neurone disease. Locoism is a chronic disease that develops in livestock feeding on plants belonging to Astragalus and Oxytropis sp., Sida carpinifolia and Ipomea carnea, which are rich in swainsonine, a toxin that inhibits the enzyme alpha mannosidase and induces a cerebellar syndrome. The ingestion of neurotoxic seeds, fruits and plants included in the diet and acute poisoning by certain plants can give rise to different neurological syndromes, some of which are irreversible.

  8. Unusual cause for recurrent Cushing syndrome and its diagnosis by computed tomography and NP-59 radiocholesterol scanning

    International Nuclear Information System (INIS)

    Harris, R.D.; Herwig, K.R.

    1990-01-01

    Cushing syndrome can recur following an adrenalectomy. One of the primary causes is recurrence of adrenal carcinoma either locally or from metastases. Hyperplasia and hyperfunction of adrenal remnants may also occur if there is pituitary stimulation. We have a patient in whom recurrent Cushing syndrome developed from small nonmalignant deposits of adrenal tissue in the perirenal adipose tissue following adrenalectomy of a benign adenoma. These deposits were identifiable by computed tomography. A false-negative NP-59 iodocholesterol scan was instructive in pointing out some problems in the interpretation of this type of scan for adrenal tissue

  9. 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.

  10. Gitelman or Bartter type 3 syndrome? A case of distal convoluted tubulopathy caused by CLCNKB gene mutation.

    Science.gov (United States)

    Cruz, António José; Castro, Alexandra

    2013-01-22

    A 32-year-old woman with no significant medical history was sent to our consultation due to hypokalaemia (syndrome (GS) came negative. CLCNKB gene mutation analysis present in both GS and Bartter (BS) type 3 syndromes was positive. The patient is now being treated with potassium and magnesium oral supplements, ramipril and spironolactone with stable near-normal potassium and magnesium levels. This article presents the case of a patient with hypokalaemia caused by CLCNKB gene mutation hard to categorise as GS or BS type 3.

  11. Cushing's Syndrome caused by pigmented adrenocortical micro nodular dysplasia - A familial case

    Energy Technology Data Exchange (ETDEWEB)

    Gomez-Segovia, I; Gallowitsch, H J; Kresnik, E; Kumnig, G; Mikosch, P; Lind, P [Dept.of Nuclear Medicine and Endocrinology, LKH Klagenfurt (Austria)

    2002-09-01

    Introduction: We present a Case of Cushing's syndrome (CS) in a 16 year old male adolescent. Adrenocortical micro nodular dysplasia is a rare cause of CS. It mostly develops in the first two decades of life. In pathogenesis a stimulatory effect of circulating Immunoglobulins on adrenal steroidogenesis has been postulated. Familial cases have been reported in relation to Carney's Syndrome. We report the clinical case at first diagnosis and preoperative follow up of 1 year prior to treatment. The leading symptoms were severe bilateral (fibrotic) gynaecomastia, weight gain and growth retardation, without hypertension,but osteoporosis, secondary hypogonadism and glucose intolerance. Laboratory findings and the results of functional tests were diagnostic for CS. In addition LDH (I-131 Isotopes), CK, Lipoproteins, GPT, Androstendion, Prolactin were elevated. MRI abdomen revealed a slight enlargement of the adrenals, and suspected a bilateral micro nodular dysplasia. Iodo-cholesterol-scan under dexamethason suppression showed a diffuse bilateral Iodo-cholesterol uptake confirming the autonomous production of cortisol bilateral in the adrenals.Whole body bone scan showed a diffuse reduced diphosphonate uptake in the skeleton and the growth plates. The bone mineral density was significantly reduced.Radiologically osteoporosis was overt. The rapid increase of free urinary cortisol excretion/24h within one year of observation led to a total bilateral adrenalectomy. Postoperative 5 year follow up examinations. Documentation of the outcome and recovery of clinical signs,symptoms and laboratory findings, discussion about the most appropriate long-term substitution therapy. Familial anamnesis:affected family member was the father (micro nodular bilateral adrenocortical dysplasia), the aunt (pararenal incidentaloma, histologically lipoma) and a cousin (micro nodular adrenocortical dysplasia). Sequential analysis of the menin gene from the patient was negative.The detection of

  12. Cushing's Syndrome caused by pigmented adrenocortical micro nodular dysplasia - A familial case

    International Nuclear Information System (INIS)

    Gomez-Segovia, I.; Gallowitsch, H.J.; Kresnik, E.; Kumnig, G.; Mikosch, P.; Lind, P.

    2002-01-01

    Introduction: We present a Case of Cushing's syndrome (CS) in a 16 year old male adolescent. Adrenocortical micro nodular dysplasia is a rare cause of CS. It mostly develops in the first two decades of life. In pathogenesis a stimulatory effect of circulating Immunoglobulins on adrenal steroidogenesis has been postulated. Familial cases have been reported in relation to Carney's Syndrome. We report the clinical case at first diagnosis and preoperative follow up of 1 year prior to treatment. The leading symptoms were severe bilateral (fibrotic) gynaecomastia, weight gain and growth retardation, without hypertension,but osteoporosis, secondary hypogonadism and glucose intolerance. Laboratory findings and the results of functional tests were diagnostic for CS. In addition LDH (I-131 Isotopes), CK, Lipoproteins, GPT, Androstendion, Prolactin were elevated. MRI abdomen revealed a slight enlargement of the adrenals, and suspected a bilateral micro nodular dysplasia. Iodo-cholesterol-scan under dexamethason suppression showed a diffuse bilateral Iodo-cholesterol uptake confirming the autonomous production of cortisol bilateral in the adrenals.Whole body bone scan showed a diffuse reduced diphosphonate uptake in the skeleton and the growth plates. The bone mineral density was significantly reduced.Radiologically osteoporosis was overt. The rapid increase of free urinary cortisol excretion/24h within one year of observation led to a total bilateral adrenalectomy. Postoperative 5 year follow up examinations. Documentation of the outcome and recovery of clinical signs,symptoms and laboratory findings, discussion about the most appropriate long-term substitution therapy. Familial anamnesis:affected family member was the father (micro nodular bilateral adrenocortical dysplasia), the aunt (pararenal incidentaloma, histologically lipoma) and a cousin (micro nodular adrenocortical dysplasia). Sequential analysis of the menin gene from the patient was negative.The detection of

  13. A Novel MAPT Mutation Causing Corticobasal Syndrome Led by Progressive Apraxia of Speech.

    Science.gov (United States)

    Marshall, Charles R; Guerreiro, Rita; Thust, Steffi; Fletcher, Phillip; Rohrer, Jonathan D; Fox, Nick C

    2015-01-01

    The authors describe a case of corticobasal syndrome led by progressive apraxia of speech, associated with a novel mutation in exon 10 of the MAPT gene. Genetic bases for progressive apraxia of speech and corticobasal syndrome are only rarely described, and have not been described in conjunction.

  14. Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects

    NARCIS (Netherlands)

    Runtuwene, V.J.; van Eekelen, M.J.L.; Overvoorde, J.; Rehmann, H.; Yntema, H.G.; Nillesen, W.M.; van Haeringen, A.; van der Burgt, I.; Burgering, B.; den Hertog, J.

    2011-01-01

    Noonan syndrome is a relatively common developmental disorder that is characterized by reduced growth, wide-set eyes and congenital heart defects. Noonan syndrome is associated with dysregulation of the Ras-mitogen-activated-protein-kinase (MAPK) signaling pathway. Recently, two mutations in NRAS

  15. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

    NARCIS (Netherlands)

    Braun, Daniela A; Rao, Jia; Mollet, Geraldine; Schapiro, David; Daugeron, Marie-Claire; Tan, Weizhen; Gribouval, Olivier; Boyer, Olivia; Revy, Patrick; Jobst-Schwan, Tilman; Schmidt, Johanna Magdalena; Lawson, Jennifer A; Schanze, Denny; Ashraf, Shazia; Ullmann, Jeremy F P; Hoogstraten, Charlotte A; Boddaert, Nathalie; Collinet, Bruno; Martin, Gaëlle; Liger, Dominique; Lovric, Svjetlana; Furlano, Monica; Guerrera, I Chiara; Sanchez-Ferras, Oraly; Hu, Jennifer F; Boschat, Anne-Claire; Sanquer, Sylvia; Menten, Björn; Vergult, Sarah; De Rocker, Nina; Airik, Merlin; Hermle, Tobias; Shril, Shirlee; Widmeier, Eugen; Gee, Heon Yung; Choi, Won-Il; Sadowski, Carolin E; Pabst, Werner L; Warejko, Jillian K; Daga, Ankana; Basta, Tamara; Matejas, Verena; Scharmann, Karin; Kienast, Sandra D; Behnam, Babak; Beeson, Brendan; Begtrup, Amber; Bruce, Malcolm; Ch'ng, Gaik-Siew; Lin, Shuan-Pei; Chang, Jui-Hsing; Chen, Chao-Huei; Cho, Megan T; Gaffney, Patrick M; Gipson, Patrick E; Hsu, Chyong-Hsin; Kari, Jameela A; Ke, Yu-Yuan; Kiraly-Borri, Cathy; Lai, Wai-Ming; Lemyre, Emmanuelle; Littlejohn, Rebecca Okashah; Masri, Amira; Moghtaderi, Mastaneh; Nakamura, Kazuyuki; Ozaltin, Fatih; Praet, Marleen; Prasad, Chitra; Prytula, Agnieszka; Roeder, Elizabeth R; Rump, Patrick; Schnur, Rhonda E; Shiihara, Takashi; Sinha, Manish D; Soliman, Neveen A; Soulami, Kenza; Sweetser, David A; Tsai, Wen-Hui; Tsai, Jeng-Daw; Topaloglu, Rezan; Vester, Udo; Viskochil, David H; Vatanavicharn, Nithiwat; Waxler, Jessica L; Wierenga, Klaas J; Wolf, Matthias T F; Wong, Sik-Nin; Leidel, Sebastian A; Truglio, Gessica; Dedon, Peter C; Poduri, Annapurna; Mane, Shrikant; Lifton, Richard P; Bouchard, Maxime; Kannu, Peter; Chitayat, David; Magen, Daniella; Callewaert, Bert; van Tilbeurgh, Herman; Zenker, Martin; Antignac, Corinne; Hildebrandt, Friedhelm

    2017-01-01

    Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain anomalies. Here we identified recessive mutations in OSGEP, TP53RK, TPRKB, and LAGE3, genes encoding the four subunits of the KEOPS

  16. Moyamoya disease associated with asymptomatic mosaic Turner syndrome: a rare cause of hemorrhagic stroke.

    Science.gov (United States)

    Manjila, Sunil; Miller, Benjamin R; Rao-Frisch, Anitha; Otvos, Balint; Mitchell, Anna; Bambakidis, Nicholas C; De Georgia, Michael A

    2014-01-01

    Moyamoya disease is a rare cerebrovascular anomaly involving the intracranial carotid arteries that can present clinically with either ischemic or hemorrhagic disease. Moyamoya syndrome, indistinguishable from moyamoya disease at presentation, is associated with multiple clinical conditions including neurofibromatosis type 1, autoimmune disease, prior radiation therapy, Down syndrome, and Turner syndrome. We present the first reported case of an adult patient with previously unrecognized mosaic Turner syndrome with acute subarachnoid and intracerebral hemorrhage as the initial manifestation of moyamoya syndrome. A 52-year-old woman was admitted with a subarachnoid hemorrhage with associated flame-shaped intracerebral hemorrhage in the left frontal lobe. Physical examination revealed short stature, pectus excavatum, small fingers, micrognathia, and mild facial dysmorphism. Cerebral angiography showed features consistent with bilateral moyamoya disease, aberrant intrathoracic vessels, and an unruptured 4-mm right superior hypophyseal aneurysm. Genetic analysis confirmed a diagnosis of mosaic Turner syndrome. Our case report is the first documented presentation of adult moyamoya syndrome with subarachnoid and intracerebral hemorrhage as the initial presentation of mosaic Turner syndrome. It illustrates the utility of genetic evaluation in patients with cerebrovascular disease and dysmorphism. Copyright © 2014 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  17. A new mutation causing autosomal dominant periodic fever syndrome in a Danish family

    DEFF Research Database (Denmark)

    Weyhreter, Heike; Schwartz, Marianne; Kristensen, Tim D

    2003-01-01

    We describe four members in a family of 8 individuals over 3 generations with the autosomal dominant inherited periodic fever syndrome tumor necrosis factor receptor-associated periodic syndrome (TRAPS). The patients had recurrent episodes of fever, abdominal pain, arthritis, and rash. We examined...

  18. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

    NARCIS (Netherlands)

    Hoischen, Alexander; van Bon, Bregje W. M.; Rodríguez-Santiago, Benjamín; Gilissen, Christian; Vissers, Lisenka E. L. M.; de Vries, Petra; Janssen, Irene; van Lier, Bart; Hastings, Rob; Smithson, Sarah F.; Newbury-Ecob, Ruth; Kjaergaard, Susanne; Goodship, Judith; McGowan, Ruth; Bartholdi, Deborah; Rauch, Anita; Peippo, Maarit; Cobben, Jan M.; Wieczorek, Dagmar; Gillessen-Kaesbach, Gabriele; Veltman, Joris A.; Brunner, Han G.; de Vries, Bert B. B. A.

    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

  19. 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.

  20. 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

    in patients with BWS. We sequenced ZFP57 in 27 BWS probands and in 23 available mothers to test for a maternal effect. We identified three novel, presumably benign sequence variants in ZFP57; thus, we found no evidence for ZFP57 alterations as a major cause in sporadic BWS cases.......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...

  1. [From gene to disease; genetic causes of hearing loss and visual impairment sometimes accompanied by vestibular problems (Usher syndrome)].

    Science.gov (United States)

    Pennings, R J E; Kremer, H; Deutman, A F; Kimberling, W J; Cremers, C W R J

    2002-12-07

    Usher syndrome is an autosomal recessively inherited disease, characterised by sensorineural hearing loss, tapetoretinal degeneration and in some cases vestibular problems. Based on the clinical heterogeneity, the disease can be classified into three clinical types (I, II and III), which have their own genetic subtypes (Usher 1A-Usher IG, Usher 2A-Usher 2C and Usher 3). The majority of the Usher type I cases are caused by mutations in the MYO7A gene (Usher 1B) while mutations in the USH2A gene (Usher 2A) are the cause of most cases of type II. Usher syndrome type III, caused by mutations in the USH3 gene, is frequently seen only in Finland.

  2. 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.

  3. Antiphospholipid Syndrome with Antiβ2glicoprotein-1 Antibodies as the Cause of Recurrent Tibial Vein Thrombosis in SAPHO syndrome.

    Science.gov (United States)

    Przepiera-Będzak, Hanna; Brzosko, Marek

    2016-12-01

    thrombosis in this syndrome, but the patient with multiple venous thrombosis presented in his case report was negative for aCL antibodies; however, he was not tested for anti-β2G-1 antibodies. There was a paper demonstrating increased level of aCL antibodies in 5 of 12 patients with SAPHO syndrome (11). In our observations of 17 patients with SAPHO syndrome, only 1 had increased level of aCL antibodies without symptoms of thrombosis (12). That patient was negative for aCL antibodies, aPT antibodies, aPS antibodies, and antiphosphatidylserine antibodies, but she was positive twice for anti-β2G-1 antibodies. The presence of anti-β2G-1antibodies may be caused by an infectious agent, but in our case bacteria culture of the discharge from pustules was negative. One year after the first episode of deep vein thrombosis, our patient met the criteria of antiphospholipid syndrome. We conclude that antiphospholipid syndrome, especially the presence of anti-β2G-1 antibodies, could be the cause of increased risk of vein thrombosis in SAPHO syndrome.

  4. Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.

    Science.gov (United States)

    Schultz, Julie M; Bhatti, Rashid; Madeo, Anne C; Turriff, Amy; Muskett, Julie A; Zalewski, Christopher K; King, Kelly A; Ahmed, Zubair M; Riazuddin, Saima; Ahmad, Nazir; Hussain, Zawar; Qasim, Muhammad; Kahn, Shaheen N; Meltzer, Meira R; Liu, Xue Z; Munisamy, Murali; Ghosh, Manju; Rehm, Heidi L; Tsilou, Ekaterini T; Griffith, Andrew J; Zein, Wadih M; Brewer, Carmen C; Riazuddin, Sheikh; Friedman, Thomas B

    2011-11-01

    Recessive mutant alleles of MYO7A, USH1C, CDH23, and PCDH15 cause non-syndromic deafness or type 1 Usher syndrome (USH1) characterised by deafness, vestibular areflexia, and vision loss due to retinitis pigmentosa. For CDH23, encoding cadherin 23, non-syndromic DFNB12 deafness is associated primarily with missense mutations hypothesised to have residual function. In contrast, homozygous nonsense, frame shift, splice site, and some missense mutations of CDH23, all of which are presumably functional null alleles, cause USH1D. The phenotype of a CDH23 compound heterozygote for a DFNB12 allele in trans configuration to an USH1D allele is not known and cannot be predicted from current understanding of cadherin 23 function in the retina and vestibular labyrinth. To address this issue, this study sought CDH23 compound heterozygotes by sequencing this gene in USH1 probands, and families segregating USH1D or DFNB12. Five non-syndromic deaf individuals were identified with normal retinal and vestibular phenotypes that segregate compound heterozygous mutations of CDH23, where one mutation is a known or predicted USH1 allele. One DFNB12 allele in trans configuration to an USH1D allele of CDH23 preserves vision and balance in deaf individuals, indicating that the DFNB12 allele is phenotypically dominant to an USH1D allele. This finding has implications for genetic counselling and the development of therapies for retinitis pigmentosa in Usher syndrome. ACCESSION NUMBERS: The cDNA and protein Genbank accession numbers for CDH23 and cadherin 23 used in this paper are AY010111.2 and AAG27034.2, respectively.

  5. Inability to have children caused by recurrent HELLP syndrome in early pregnancies - implications for a review of literature.

    Science.gov (United States)

    Pawelec, Małgorzata; Karmowski, Andrzej; Karmowski, Mikołaj; Krzemieniewska, Joanna; Kulczycka, Aleksandra; Gabryś, Marian Stanisław; Koryś, Jerzy; Gworys, Bohdan

    2013-01-01

    This review is inspired by a case of two pregnancies of the same patient complicated by HELLP syndrome, which suggests that there is a predisposition for the occurrence of preeclampsia and HELLP syndrome in early pregnancy. HELLP syndrome, uncommon below the 20th week and rarer still in two consecutive pregnancies, appeared in two pregnancies of the same woman. The aim of our work is to try to understand the cause of heterogeneity of HELLP syndrome and help find a way of prolonging such pregnancies. Recurrent HELLP syndrome in early pregnancy is a form of severe, fulminant preeclampsia. The preceding symptom is a surge in blood pressure. The hypertension becomes resistant to antihypertensive drugs, which indicates that preexisting hypertension is later accompanied by other factors contributing to the rise in blood pressure. Different effects of high dosage of corticosteroids on liver and platelets show that there are different factors responsible for liver damage and for thrombocytopenia. It seems that the symptoms have various origins, so the therapy with one drug only is not sufficiently effective. Nicotine analogues or a plant extract (from rootstock of Eriosema kraussianum) used by South African traditional healers for erectile dysfunction seem to give a chance of prolonging pregnancy and, consequently, having children.

  6. 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.

  7. Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients.

    Science.gov (United States)

    Trabelsi, Mediha; Nouira, Malek; Maazoul, Faouzi; Kraoua, Lilia; Meddeb, Rim; Ouertani, Ines; Chelly, Imen; Benoit, Valérie; Besbes, Ghazi; Mrad, Ridha

    2017-12-01

    Waardenburg syndrome (WS) is an auditory-pigmentary disease characterized by a clinical and genetic variability. WS is classified into four types depending on the presence or absence of additional symptoms: WS1, WS2, WS3 and WS4. Type 1 and 3 are mostly caused by PAX3 mutations, while type 2 and type 4 are genetically heterogeneous. The aims of this study are to confirm the diagnostic of WS1 by the sequencing of PAX3 gene and to evaluate the genotype phenotype correlation. A clinical classification was established for 14 patients WS, as proposed by the Waardenburg Consortium, and noted a predominance of type 1 and type 2 with 6 patients WS1, 7 patients WS2 and 1 patient WS3. A significant inter and intra-familial clinical heterogeneity was also observed. A sequencing of PAX3 gene in the 6 patients WS1 confirmed the diagnosis in 4 of them by revealing three novel mutations that modify two functional domains of the protein: the c.942delC; the c.933_936dupTTAC and the c.164delTCCGCCACA. These three variations are most likely responsible for the phenotype, however their pathogenic effects need to be confirmed by functional studies. The MLPA analysis of the 2 patients who were sequence negative for PAX3 gene revealed, in one of them, a heterozygous deletion of exons 5 to 9 confirming the WS1 diagnosis. Both clinical and molecular approaches led to the conclusion that there is a lack of genotype-phenotype correlation in WS1, an element that must be taken into account in genetic counseling. The absence of PAX3 mutation in one patient WS1 highlights the fact that the clinical classification is sometimes insufficient to distinguish WS1 from other types WS hence the interest of sequencing the other WS genes in this patient. Copyright © 2017 Elsevier B.V. All rights reserved.

  8. Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.

    Science.gov (United States)

    Schüle, Birgitt; Oviedo, Angelica; Johnston, Kathreen; Pai, Shashidhar; Francke, Uta

    2005-12-01

    The rare, autosomal recessive Roberts syndrome (RBS) is characterized by tetraphocomelia, profound growth deficiency of prenatal onset, craniofacial anomalies, microcephaly, and mental deficiency. SC phocomelia (SC) has a milder phenotype, with a lesser degree of limb reduction and with survival to adulthood. Since heterochromatin repulsion (HR) is characteristic for both disorders and is not complemented in somatic-cell hybrids, it has been hypothesized that the disorders are allelic. Recently, mutations in ESCO2 (establishment of cohesion 1 homolog 2) on 8p21.1 have been reported in RBS. To determine whether ESCO2 mutations are also responsible for SC, we studied three families with SC and two families in which variable degrees of limb and craniofacial abnormalities, detected by fetal ultrasound, led to pregnancy terminations. All cases were positive for HR. We identified seven novel mutations in exons 3-8 of ESCO2. In two families, affected individuals were homozygous--for a 5-nucleotide deletion in one family and a splice-site mutation in the other. In three nonconsanguineous families, probands were compound heterozygous for a single-nucleotide insertion or deletion, a nonsense mutation, or a splice-site mutation. Abnormal splice products were characterized at the RNA level. Since only protein-truncating mutations were identified, regardless of clinical severity, we conclude that genotype does not predict phenotype. Having established that RBS and SC are caused by mutations in the same gene, we delineated the clinical phenotype of the tetraphocomelia spectrum that is associated with HR and ESCO2 mutations and differentiated it from other types of phocomelia that are negative for HR.

  9. Transdermal rotigotine causes impulse control disorders in patients with restless legs syndrome.

    Science.gov (United States)

    Schreglmann, S R; Gantenbein, A R; Eisele, G; Baumann, C R

    2012-02-01

    Dopaminergic drugs are the mainstay of treatment for restless legs syndrome (RLS). We analyzed the frequency and clinical characteristics of impulse control disorders (ICD) in patients with RLS on transdermal rotigotine treatment. Retrospective case series at a university movement disorder clinic (n = 28, 17 women). Symptoms of ICD were assessed via detailed history taking and scoring with the Zurich Screening Questionnaire for ICD (ZICD) prior to and after initiation of treatment. None of the patients had a history of ICD prior to treatment. Baseline mean scores for patients who did (8.0 ± 2.5) and did not (6.2 ± 2.7) develop ICD under treatment did not differ. Six male patients (21%) developed various symptoms of ICD (mean ZICD scores 20.7 ± 10.2) on rotigotine treatment (mean dose: 3.8 mg/d), including binge eating, hypersexuality, compulsive shopping, pathological gambling, and punding, equaling a prevalence rate of 21%. Also in the non-ICD group, ZICD scores increased (7.5 ± 2.8). This is the first report of ICD in patients treated with transdermal rotigotine for RLS. In contrast to literature, even low doses of rotigotine (mean 3.8 mg/d) can cause ICD. Therefore every prescribing physician should be aware that ICD may emerge in both RLS and PD patients on any dopaminergic treatment, and should actively ask for such symptoms. The ZICD questionnaire not only replicated the findings of detailed history taking but also showed an increased tendency towards impulsive behaviour in subjects that did not develop ICD. Copyright © 2011 Elsevier Ltd. All rights reserved.

  10. 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.

  11. 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.

  12. A comprehensive review on experimental and clinical findings in intermediate syndrome caused by organophosphate poisoning

    International Nuclear Information System (INIS)

    Abdollahi, Mohammad; Karami-Mohajeri, Somayyeh

    2012-01-01

    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.

  13. Defective membrane expression of human growth hormone (GH) receptor causes Laron-type GH insensitivity syndrome.

    Science.gov (United States)

    Duquesnoy, P; Sobrier, M L; Amselem, S; Goossens, M

    1991-01-01

    Mutations in the growth hormone receptor (GHR) gene can cause growth hormone (GH) resistance. Given the sequence homology between the extracellular domain of the GHR and a soluble GH-binding protein (GH-BP), it is remarkable that GH-BP binding activity is absent from the serum of patients with Laron-type GH insensitivity, a hereditary form of severe dwarfism. We have previously identified a mutation within the extracellular domain of this receptor, replacing phenylalanine by serine at position 96 of the mature protein, in a patient with Laron syndrome. We have now investigated the effect of this Phe----Ser substitution on hormone binding activity by expressing the total human GHR cDNA and mutant form in eukaryotic cells. The wild-type protein expressed was able to bind GH but no plasma membrane binding was detectable on cells transfected with the mutant cDNA; this was also the case of cells transfected with a Phe96----Ala mutant cDNA, suggesting that the lack of binding activity is not due to a posttranslational modification of serine. Examination of the variant proteins in subcellular fractions revealed the presence of specific GH binding activity in the lysosomal fraction, whereas immunofluorescence studies located mutant proteins in the cytosol. Our findings suggest that these mutant GHRs fail to follow the correct intracellular transport pathway and underline the potential importance of this phenylalanine residue, which is conserved among the GH, prolactin, and erythropoietin receptors that belong to the same cytokine receptor superfamily. Images PMID:1719554

  14. Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.

    Science.gov (United States)

    Lal, Dennis; Reinthaler, Eva M; Dejanovic, Borislav; May, Patrick; Thiele, Holger; Lehesjoki, Anna-Elina; Schwarz, Günter; Riesch, Erik; Ikram, M Arfan; van Duijn, Cornelia M; Uitterlinden, Andre G; Hofman, Albert; Steinböck, Hannelore; Gruber-Sedlmayr, Ursula; Neophytou, Birgit; Zara, Federico; Hahn, Andreas; Gormley, Padhraig; Becker, Felicitas; Weber, Yvonne G; Cilio, Maria Roberta; Kunz, Wolfram S; Krause, Roland; Zimprich, Fritz; Lemke, Johannes R; Nürnberg, Peter; Sander, Thomas; Lerche, Holger; Neubauer, Bernd A

    2016-01-01

    The SCN1A gene, coding for the voltage-gated Na+ channel alpha subunit NaV1.1, is the clinically most relevant epilepsy gene. With the advent of high-throughput next-generation sequencing, clinical laboratories are generating an ever-increasing catalogue of SCN1A variants. Variants are more likely to be classified as pathogenic if they have already been identified previously in a patient with epilepsy. Here, we critically re-evaluate the pathogenicity of this class of variants in a cohort of patients with common epilepsy syndromes and subsequently ask whether a significant fraction of benign variants have been misclassified as pathogenic. We screened a discovery cohort of 448 patients with a broad range of common genetic epilepsies and 734 controls for previously reported SCN1A mutations that were assumed to be disease causing. We re-evaluated the evidence for pathogenicity of the identified variants using in silico predictions, segregation, original reports, available functional data and assessment of allele frequencies in healthy individuals as well as in a follow up cohort of 777 patients. We identified 8 known missense mutations, previously reported as pathogenic, in a total of 17 unrelated epilepsy patients (17/448; 3.80%). Our re-evaluation indicates that 7 out of these 8 variants (p.R27T; p.R28C; p.R542Q; p.R604H; p.T1250M; p.E1308D; p.R1928G; NP_001159435.1) are not pathogenic. Only the p.T1174S mutation may be considered as a genetic risk factor for epilepsy of small effect size based on the enrichment in patients (P = 6.60 x 10-4; OR = 0.32, fishers exact test), previous functional studies but incomplete penetrance. Thus, incorporation of previous studies in genetic counseling of SCN1A sequencing results is challenging and may produce incorrect conclusions.

  15. 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

  16. Refeeding syndrome as an iatrogenic cause of delirium: a retrospective pilot study.

    Science.gov (United States)

    Caplan, Jason P; Chang, Grace

    2010-01-01

    Refeeding syndrome describes a pattern of electrolyte disturbances occurring after the reintroduction of nutrition to the malnourished patient; it is often associated with delirium. The authors investigated whether hospitalized elderly patients who develop delirium are more likely to have laboratory findings consistent with refeeding syndrome. The authors conducted a retrospective chart review of 100 patients over age 60. Charts were examined for indications of delirium and refeeding syndrome. Significantly lower serum levels of magnesium and phosphate were found in patients with delirium. Delirium was not associated with any significant difference in levels of potassium. This study supports an association between delirium in elderly patients and electrolyte changes consistent with those seen in refeeding syndrome.

  17. Symmetrical Corticobasal Syndrome Caused by a Novel c.314dup Progranulin Mutation

    NARCIS (Netherlands)

    Dopper, E.G.; Seelaar, H.; Chiu, W.Z.; de Koning, I.; van Minkelen, R.; Baker, M.C.; Rozemuller, A.J.; Rademakers, R.; van Swieten, J.C.

    2011-01-01

    Corticobasal 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 sometimes in

  18. 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

  19. 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

  20. A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome

    DEFF Research Database (Denmark)

    Clendenning, Mark; Senter, Leigha; Hampel, Heather

    2008-01-01

    BACKGROUND: When compared to the other mismatch repair genes involved in Lynch syndrome, the identification of mutations within PMS2 has been limited (Lynch syndrome cases...... on immunohistochemical analysis. RESULTS: We have identified a frequently occurring frame-shift mutation (c.736_741del6ins11) in 12 ostensibly unrelated Lynch syndrome patients (20% of patients we have identified with a deleterious mutation in PMS2, n=61). These individuals all display the rare allele (population...... and Swedish ancestry. We estimate that there are >10,000 carriers of this mutation in the United States alone. The identification of both the mutation and the common haplotype in one Swedish control sample (n = 225), along with evidence that Lynch syndrome associated cancers are rarer than expected...

  1. Case report: Subutaneous hemangiomatosis causing Kasabach-Merritt syndrome – MRI features

    International Nuclear Information System (INIS)

    Jain, Tarun P; Sharma, Raju; Gupta, Rohini

    2008-01-01

    Hemangiomatosis is an uncommon entity in which there is diffuse infiltration of soft tissue or bone by hemangioma. Kasabach-Merritt syndrome is an uncommon complication of large hemangiomas, in which there is thrombocytopenia and coagulopathy. Plain radiographs, in addition to showing a soft tissue mass, also show a variety of findings in the bones. MRI is the investigation of choice. A case of a 2-year-old child suffering from hemangiomatosis and a resultant Kasabach-Merritt syndrome is presented

  2. Burning mouth syndrome in Parkinson’s disease: dopamine as cure or cause?

    OpenAIRE

    Coon, Elizabeth A.; Laughlin, Ruple S.

    2012-01-01

    Burning mouth syndrome has been reported as being more common in Parkinson’s disease patients than the general population. While the pathophysiology is unclear, decreased dopamine levels and dopamine dysregulation are hypothesized to play a role. We report a patient with Parkinson’s disease who developed burning mouth syndrome with carbidopa/levodopa. Our patient had resolution of burning mouth symptoms when carbidopa/levodopa was replaced with a dopamine agonist. Based on our patient’s clini...

  3. Schnitzler's syndrome: an unusual cause of bone pain with suggestive nuclear imaging features

    International Nuclear Information System (INIS)

    Raedt, N. de; Mortelmans, L.

    2009-01-01

    Schnitzler's syndrome is a rare inflammatory disorder characterised by chronic urticarial rash and monoclonal IgM gammopathy accompanied by at least two of the following features: fever, arthralgia or arthritis, bone pain, lymphadenopathy, hepato- or splenomegaly, leucocytosis and elevated sedimentation. The association of these clinical and biological features with radiographic and bone scan findings are suggestive of the disease. The case of a 37-year-old man presenting with Schnitzler's syndrome, emphasizing nuclear imaging features is reported here. (N.C.)

  4. OHVIRA syndrome: rare cause of chronic vaginal discharge in an unmarried female.

    Science.gov (United States)

    Nigam, Aruna; Raghunandan, Chitra; Yadav, Reena; Tomer, Shaili; Anand, Rama

    2011-09-01

    Chronic vaginal discharge in adolescent and young females, not responding to antibiotics, can pose a diagnostic dilemma for many gynecologists and general practitioners. Uterus didelphys with obstructed hemivagina and ipsilateral renal agenesis (OHVIRA syndrome) is a rare congenital anomaly. We present a case of a 22-year-old unmarried female with this syndrome presenting with chronic purulent vaginal discharge. The uniqueness about the case is its much delayed presentation. © 2011 The Authors. Congenital Anomalies © 2011 Japanese Teratology Society.

  5. Paroxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome

    Directory of Open Access Journals (Sweden)

    Marie Mongin

    2016-03-01

    Full Text Available Background: Glucose transporter type 1 deficiency syndrome is due to de novo mutations in the SLC2A1 gene encoding the glucose transporter type 1. Phenomenology Shown: Paroxysmal motor manifestations induced by exercise or fasting may be the main manifestations of glucose transporter type 1 deficiency syndrome. Educational Value: Proper identification of the paroxysmal events and early diagnosis is important since the disease is potentially treatable.

  6. Acute coronary syndrome caused by coronary vasospasms associated with Churg-Strauss syndrome: effects of betamethasone therapy.

    Science.gov (United States)

    Suzuki, Yuji; Nishiyama, Osamu; Sakai, Toshiaki; Niiyama, Masanobu; Itoh, Tomonori; Nakamura, Motoyuki

    2014-01-01

    A 42-year-old woman with a history of aspirin-induced asthma was admitted with severe chest pain. Emergency coronary angiography revealed coronary artery spasms. The administration of vasodilators did not suppress the anginal symptoms, and the differential white blood cell count continued to show eosinophilia. The patient's symptoms of aspirin-induced asthma, eosinophilia and other allergic states led to the diagnosis of Churg-Strauss syndrome (CSS). After starting betamethasone therapy, the eosinophilia and cardiac symptoms rapidly disappeared. Although coronary vasospasms related to CSS are rare, the present case suggests that a differential white blood cell count should be obtained in patients with refractory coronary vasospasms.

  7. Afferent Loop Syndrome after Roux-en-Y Total Gastrectomy Caused by Volvulus of the Roux-Limb

    Directory of Open Access Journals (Sweden)

    Hideki Katagiri

    2016-01-01

    Full Text Available Afferent loop syndrome is a rare complication of gastric surgery. An obstruction of the afferent limb can present in various ways. A 73-year-old man presented with one day of persistent abdominal pain, gradually radiating to the back. He had a history of total gastrectomy with a Roux-en-Y reconstruction. Abdominal computed tomography scan revealed dilation of the duodenum and small intestine in the left upper quadrant. Exploratory laparotomy showed volvulus of the biliopancreatic limb that caused afferent loop syndrome. In this patient, the 50 cm long limb was the cause of volvulus. It is important to fashion a Roux-limb of appropriate length to prevent this complication.

  8. Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.

    Science.gov (United States)

    Sousa, Sérgio B; Jenkins, Dagan; Chanudet, Estelle; Tasseva, Guergana; Ishida, Miho; Anderson, Glenn; Docker, James; Ryten, Mina; Sa, Joaquim; Saraiva, Jorge M; Barnicoat, Angela; Scott, Richard; Calder, Alistair; Wattanasirichaigoon, Duangrurdee; Chrzanowska, Krystyna; Simandlová, Martina; Van Maldergem, Lionel; Stanier, Philip; Beales, Philip L; Vance, Jean E; Moore, Gudrun E

    2014-01-01

    Lenz-Majewski syndrome (LMS) is a syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. By using whole-exome sequencing and selecting variants consistent with the predicted dominant de novo etiology of LMS, we identified causative heterozygous missense mutations in PTDSS1, which encodes phosphatidylserine synthase 1 (PSS1). PSS1 is one of two enzymes involved in the production of phosphatidylserine. Phosphatidylserine synthesis was increased in intact fibroblasts from affected individuals, and end-product inhibition of PSS1 by phosphatidylserine was markedly reduced. Therefore, these mutations cause a gain-of-function effect associated with regulatory dysfunction of PSS1. We have identified LMS as the first human disease, to our knowledge, caused by disrupted phosphatidylserine metabolism. Our results point to an unexplored link between phosphatidylserine synthesis and bone metabolism.

  9. Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome

    Directory of Open Access Journals (Sweden)

    Buchanan DD

    2014-10-01

    Full Text Available Daniel D Buchanan,1,2 Christophe Rosty,1,3,4 Mark Clendenning,1 Amanda B Spurdle,5 Aung Ko Win2 1Oncogenomics Group, Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Parkville, VIC, Australia; 2Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia; 3Envoi Specialist Pathologists, Herston, QLD, Australia; 4School of Medicine, University of Queensland, Herston, QLD, Australia; 5Molecular Cancer Epidemiology Laboratory, Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Herston, QLD, AustraliaAbstract: Carriers of a germline mutation in one of the DNA mismatch repair (MMR genes have a high risk of developing numerous different cancers, predominantly colorectal cancer and endometrial cancer (known as Lynch syndrome. MMR gene mutation carriers develop tumors with MMR deficiency identified by tumor microsatellite instability or immunohistochemical loss of MMR protein expression. Tumor MMR deficiency is used to identify individuals most likely to carry an MMR gene mutation. However, MMR deficiency can also result from somatic inactivation, most commonly methylation of the MLH1 gene promoter. As tumor MMR testing of all incident colorectal and endometrial cancers (universal screening is becoming increasingly adopted, a growing clinical problem is emerging for individuals who have tumors that show MMR deficiency who are subsequently found not to carry an MMR gene mutation after genetic testing using the current diagnostic approaches (Sanger sequencing and multiplex ligation-dependent probe amplification and who also show no evidence of MLH1 methylation. The inability to determine the underlying cause of tumor MMR deficiency in these "Lynch-like" or "suspected Lynch syndrome" cases has significant implications on the clinical management of these individuals and their relatives. When the

  10. 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......-immunoprecipitation studies showed that Rab27A(G43S) fails to interact with its effector Melanophilin, indicating that the switch I region functions in the recruitment of Rab effector proteins Udgivelsesdato: 2008/6...

  11. Molecular Characterization of a Heterothallic Mating System in Pseudogymnoascus destructans, the Fungus Causing White-Nose Syndrome of Bats

    OpenAIRE

    Palmer, Jonathan M.; Kubatova, Alena; Novakova, Alena; Minnis, Andrew M.; Kolarik, Miroslav; Lindner, Daniel L.

    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 America, nothing is known about the sexual capacity of this fungus. To gain insight into the genes involved in sexual reproduction, we characterized the mating-type ...

  12. Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome.

    NARCIS (Netherlands)

    Gennery, A.R.; Slatter, M.A.; Rice, J.; Hoefsloot, L.H.; Barge, D.; McLean-Tooke, A.; Montgomery, T.; Goodship, J.A.; Burt, A.D.; Flood, T.J.; Abinun, M.; Cant, A.J.; Johnson, D.

    2008-01-01

    More than 11 genetic causes of severe combined immunodeficiency (SCID) have been identified, affecting development and/or function of T lymphocytes, and sometimes B lymphocytes and natural killer (NK) cells. Deletion of 22q11.2 is associated with immunodeficiency, although less than 1% of cases are

  13. MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

    Science.gov (United States)

    Brancati, Francesco; Iannicelli, Miriam; Travaglini, Lorena; Mazzotta, Annalisa; Bertini, Enrico; Boltshauser, Eugen; D'Arrigo, Stefano; Emma, Francesco; Fazzi, Elisa; Gallizzi, Romina; Gentile, Mattia; Loncarevic, Damir; Mejaski-Bosnjak, Vlatka; Pantaleoni, Chiara; Rigoli, Luciana; Salpietro, Carmelo D; Signorini, Sabrina; Stringini, Gilda Rita; Verloes, Alain; Zabloka, Dominika; Dallapiccola, Bruno; Gleeson, Joseph G; Valente, Enza Maria

    2009-02-01

    The acronym COACH defines an autosomal recessive condition of Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia, Coloboma and Hepatic fibrosis. Patients present the "molar tooth sign", a midbrain-hindbrain malformation pathognomonic for Joubert Syndrome (JS) and Related Disorders (JSRDs). The main feature of COACH is congenital hepatic fibrosis (CHF), resulting from malformation of the embryonic ductal plate. CHF is invariably found also in Meckel syndrome (MS), a lethal ciliopathy already found to be allelic with JSRDs at the CEP290 and RPGRIP1L genes. Recently, mutations in the MKS3 gene (approved symbol TMEM67), causative of about 7% MS cases, have been detected in few Meckel-like and pure JS patients. Analysis of MKS3 in 14 COACH families identified mutations in 8 (57%). Features such as colobomas and nephronophthisis were found only in a subset of mutated cases. These data confirm COACH as a distinct JSRD subgroup with core features of JS plus CHF, which major gene is MKS3, and further strengthen gene-phenotype correlates in JSRDs. (c) 2008 Wiley-Liss, Inc.

  14. Posterior Nutcracker Syndrome with Left Renal Vein Duplication: A Rare Cause of Haematuria in a 12-Year-Old Boy

    Directory of Open Access Journals (Sweden)

    J. Preza Fernandes

    2012-01-01

    Full Text Available The nutcracker syndrome (NCS is a rare cause of haematuria. It embraces an extended nonpathognomonic spectrum of symptoms that imply a difficult diagnosis. Ultimately it may be associated with substantial morbidity and even life-threatening events. We report a rare cause if a 12-year-old boy who presented with a history of frequent intermittent episodes of painless constant haematuria. The cystoscopy showed a bloody urine ejaculate from the left ureter meatus. The Doppler ultrasonography showed turbulent pattern of venous blood flow of the posterior renal vein branch behind the aorta. The abdominopelvic computer tomography (apCT revealed left renal vein (LRV duplication with a dilated retroaortic branch, entrapped between the aorta and the vertebral column, promoting the renal nutcracker syndrome. The patient was initially hospitalized and managed with oral iron supplements and continuous saline bladder irrigation, not requiring additional treatment. The child is currently asymptomatic, with haemoglobin value returning to normal and therefore proposed to conservative management with close followup. The authors present a case report of episodic haematuria caused by a rare entity—posterior nutcracker syndrome with renal vein duplication.

  15. A thymic neuroendocrine tumour in a young female: a rare cause of relapsing and remitting Cushing's syndrome.

    Science.gov (United States)

    Trott, M J; Farah, G; Stokes, V J; Wang, L M; Grossman, A B

    2016-01-01

    We present a case of a young female patient with a rare cause of relapsing and remitting Cushing's syndrome due to ectopic ACTH secretion from a thymic neuroendocrine tumour. A 34-year-old female presented with a constellation of symptoms of Cushing's syndrome, including facial swelling, muscle weakness and cognitive impairment. We use the terms 'relapsing and remitting' in this case report, given the unpredictable time course of symptoms, which led to a delay of 2 years before the correct diagnosis of hypercortisolaemia. Diagnostic workup confirmed ectopic ACTH secretion, and a thymic mass was seen on mediastinal imaging. The patient subsequently underwent thymectomy with complete resolution of her symptoms. Several case series have documented the association of Cushing's syndrome with thymic neuroendocrine tumours (NETs), although to our knowledge there are a few published cases of patients with relapsing and remitting symptoms. This case is also notable for the absence of features of the MEN-1 syndrome, along with the female gender of our patient and her history of non-smoking. Ectopic corticotrophin (ACTH) secretion should always be considered in the diagnostic workup of young patients with Cushing's syndromeThere is a small but growing body of literature describing the correlation between ectopic ACTH secretion and thymic neuroendocrine tumours (NETs)The possibility of a MEN-1 syndrome should be considered in all patients with thymic NETs, and we note the observational association with male gender and cigarette smoking in this cohortAn exception to these associations is the finding of relatively high incidence of thymic NETs among female non-smoking MEN-1 patients in the Japanese compared with Western populationsThe relapsing and remitting course of our patient's symptoms is noteworthy, given the paucity of this finding among other published cases.

  16. Vascular-type Ehlers-Danlos syndrome caused by a hitherto unknown genetic mutation: a case report

    Directory of Open Access Journals (Sweden)

    Kashizaki Fumihiro

    2013-02-01

    Full Text Available Abstract Introduction Vascular-type Ehlers-Danlos syndrome is an autosomal dominant disease that causes arterial spurting, intestinal perforation, uterine rupture and hemopneumothorax due to decreased production of type III collagen. The average age at death is 48 years old, and it is considered to be the most severe form of Ehlers-Danlos syndrome. We report the case of a 64-year-old Japanese woman and her 38-year-old daughter who were diagnosed with this disease. Case presentation A 64-year-old Japanese woman was referred to our hospital because of right anterior chest pain following cough and pharyngeal discomfort. Pleurisy was suspected due to the presence of right pleural effusion, so the next day she was referred to our department, where a detailed examination led to the diagnosis of hemothorax. The bleeding that caused the right hemothorax was difficult to control, so our patient was transferred to the Department of Thoracic Surgery for hemostasis control. Our patient’s personal history of uterine hemorrhage and skin ulcers, as well as the finding of skin fragility during surgery, were indicative of a weak connective tissue disease; therefore, after improvement of the hemothorax, a genetic analysis was performed. This revealed a heterozygous missense mutation in COL3A1, c.2411 G>T p.Gly804Val (exon 36. A detailed investigation conducted at a later date revealed that her daughter also had the same genetic mutation. This led to the diagnosis of vascular-type Ehlers-Danlos syndrome characterized by a new gene mutation. Conclusion We report a new genetic mutation associated with vascular-type Ehlers-Danlos syndrome. We present the clinical and imaging findings, and the disease and treatment course in this patient. We believe this information will be important in treating future cases of vascular-type Ehlers-Danlos syndrome in patients with this mutation.

  17. Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

    Science.gov (United States)

    Santen, Gijs W E; Aten, Emmelien; Sun, Yu; Almomani, Rowida; Gilissen, Christian; Nielsen, Maartje; Kant, Sarina G; Snoeck, Irina N; Peeters, Els A J; Hilhorst-Hofstee, Yvonne; Wessels, Marja W; den Hollander, Nicolette S; Ruivenkamp, Claudia A L; van Ommen, Gert-Jan B; Breuning, Martijn H; den Dunnen, Johan T; van Haeringen, Arie; Kriek, Marjolein

    2012-03-18

    We identified de novo truncating mutations in ARID1B in three individuals with Coffin-Siris syndrome (CSS) by exome sequencing. Array-based copy-number variation (CNV) analysis in 2,000 individuals with intellectual disability revealed deletions encompassing ARID1B in 3 subjects with phenotypes partially overlapping that of CSS. Taken together with published data, these results indicate that haploinsufficiency of the ARID1B gene, which encodes an epigenetic modifier of chromatin structure, is an important cause of CSS and is potentially a common cause of intellectual disability and speech impairment.

  18. Pulmonary endothelial activation caused by extracellular histones contributes to neutrophil activation in acute respiratory distress syndrome.

    Science.gov (United States)

    Zhang, Yanlin; Guan, Li; Yu, Jie; Zhao, Zanmei; Mao, Lijun; Li, Shuqiang; Zhao, Jinyuan

    2016-11-21

    During the acute respiratory distress syndrome (ARDS), neutrophils play a central role in the pathogenesis, and their activation requires interaction with the endothelium. Extracellular histones have been recognized as pivotal inflammatory mediators. This study was to investigate the role of pulmonary endothelial activation during the extracellular histone-induced inflammatory response in ARDS. ARDS was induced in male C57BL/6 mice by intravenous injection with lipopolysaccharide (LPS) or exogenous histones. Concurrent with LPS administration, anti-histone H4 antibody (anti-H4) or non-specific IgG was administered to study the role of extracellular histones. The circulating von Willebrand factor (vWF) and soluble thrombomodulin (sTM) were measured with ELISA kits at the preset time points. Myeloperoxidase (MPO) activity in lung tissue was measured with a MPO detection kit. The translocation of P-selectin and neutrophil infiltration were measured by immunohistochemical detection. For in vitro studies, histone H4 in the supernatant of mouse lung vascular endothelial cells (MLVECs) was measured by Western blot. The binding of extracellular histones with endothelial membrane was examined by confocal laser microscopy. Endothelial P-selectin translocation was measured by cell surface ELISA. Adhesion of neutrophils to MLVECs was assessed with a color video digital camera. The results showed that during LPS-induced ARDS extracellular histones caused endothelial and neutrophil activation, as seen by P-selectin translocation, release of vWF, an increase of circulating sTM, lung neutrophil infiltration and increased MPO activity. Extracellular histones directly bound and activated MLVECs in a dose-dependent manner. On the contrary, the direct stimulatory effect of exogenous histones on neutrophils was very limited, as measured by neutrophil adhesion and MPO activity. With the contribution of activated endothelium, extracellular histones could effectively activating

  19. Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.

    Directory of Open Access Journals (Sweden)

    Dennis Lal

    Full Text Available The SCN1A gene, coding for the voltage-gated Na+ channel alpha subunit NaV1.1, is the clinically most relevant epilepsy gene. With the advent of high-throughput next-generation sequencing, clinical laboratories are generating an ever-increasing catalogue of SCN1A variants. Variants are more likely to be classified as pathogenic if they have already been identified previously in a patient with epilepsy. Here, we critically re-evaluate the pathogenicity of this class of variants in a cohort of patients with common epilepsy syndromes and subsequently ask whether a significant fraction of benign variants have been misclassified as pathogenic.We screened a discovery cohort of 448 patients with a broad range of common genetic epilepsies and 734 controls for previously reported SCN1A mutations that were assumed to be disease causing. We re-evaluated the evidence for pathogenicity of the identified variants using in silico predictions, segregation, original reports, available functional data and assessment of allele frequencies in healthy individuals as well as in a follow up cohort of 777 patients.We identified 8 known missense mutations, previously reported as pathogenic, in a total of 17 unrelated epilepsy patients (17/448; 3.80%. Our re-evaluation indicates that 7 out of these 8 variants (p.R27T; p.R28C; p.R542Q; p.R604H; p.T1250M; p.E1308D; p.R1928G; NP_001159435.1 are not pathogenic. Only the p.T1174S mutation may be considered as a genetic risk factor for epilepsy of small effect size based on the enrichment in patients (P = 6.60 x 10-4; OR = 0.32, fishers exact test, previous functional studies but incomplete penetrance. Thus, incorporation of previous studies in genetic counseling of SCN1A sequencing results is challenging and may produce incorrect conclusions.

  20. An Unexpected Cause of Pelvic Pain in a Pubertal Case: Herlyn-Werner-Wunderlich Syndrome

    Directory of Open Access Journals (Sweden)

    Yasemin Kayadibi

    2014-03-01

    Full Text Available Uterovaginal duplication with imperforated hemivagina is a rare type of Mullerian anomaly. If ipsilateral renal agenesis is associated with this complex genital malformation, it is called Herlyn-Werner-Wunderlich syndrome. Clinical presentations of this syndrome include pelvic pain and mass effect due to obstructed hemivagina in pubertal adolescents and adults. Hematocolpos, even after menstruation period, leads to misdiagnosis. Laparotomy is the gold standard for the diagnosis, however, magnetic resonance imaging has an accuracy upto 100% in evaluating uterovajinal anatomy. In this article, we aimed to present ultrasonographic and magnetic resonance imaging findings in a patient with Herlyn-Werner-Wun derlich syndrome who presented with cyclic pelvic pain. (The Me­di­cal Bul­le­tin of Ha­se­ki 2014; 52: 60-3

  1. Upper Extremity Compartment Syndrome in a Patient with Acute Gout Attack but without Trauma or Other Typical Causes

    Directory of Open Access Journals (Sweden)

    John G. Skedros

    2018-01-01

    Full Text Available We report the case of a 30-year-old Polynesian male with a severe gout flare of multiple joints and simultaneous acute compartment syndrome (ACS of his right forearm and hand without trauma or other typical causes. He had a long history of gout flares, but none were known to be associated with compartment syndrome. He also had concurrent infections in his right elbow joint and olecranon bursa. A few days prior to this episode of ACS, high pain and swelling occurred in his right upper extremity after a minimal workout with light weights. A similar episode occurred seven months prior and was attributed to a gout flare. Unlike past flares that resolved with colchicine and/or anti-inflammatory medications, his current upper extremity pain/swelling worsened and became severe. Hand and forearm fasciotomies were performed. Workup included general medicine, rheumatology and infectious disease consultations, myriad blood tests, and imaging studies including Doppler ultrasound and CT angiography. Additional clinical history suggested that he had previously unrecognized recurrent exertional compartment syndrome that led to the episode of ACS reported here. Chronic exertional compartment syndrome (CECS presents a difficult diagnosis when presented with multiple symptoms concurrently. This case provides an example of one such diagnosis.

  2. Staphylococcal scalded skin syndrome in a premature newborn caused by methicillin-resistant Staphylococcus aureus: case report

    Directory of Open Access Journals (Sweden)

    Andreas Hörner

    Full Text Available CONTEXT: Staphylococcal scalded skin syndrome is an exfoliative skin disease. Reports of this syndrome in newborns caused by methicillin-resistant Staphylococcus aureus are rare but, when present, rapid diagnosis and treatment is required in order to decrease morbidity and mortality. CASE REPORT: A premature newly born girl weighing 1,520 g, born with a gestational age of 29 weeks and 4 days, developed staphylococcal scalded skin syndrome on the fifth day of life. Cultures on blood samples collected on the first and fourth days were negative, but Pseudomonas aeruginosa and Enterococcus sp. (vancomycin-sensitive developed in blood cultures performed on the day of death (seventh day, and Pseudomonas aeruginosa and Serratia marcescens were identified in cultures on nasopharyngeal, buttock and abdominal secretions. In addition to these two Gram-negative bacilli, methicillin-resistant Staphylococcus aureus was isolated in a culture on the umbilical stump (seventh day. The diagnosis of staphylococcal scalded skin syndrome was based on clinical criteria.

  3. The Loss of Vacuolar Protein Sorting 11 (vps11) Causes Retinal Pathogenesis in a Vertebrate Model of Syndromic Albinism

    Science.gov (United States)

    Thomas, Jennifer L.; Vihtelic, Thomas S.; denDekker, Aaron D.; Willer, Gregory; Luo, Xixia; Murphy, Taylor R.; Gregg, Ronald G.; Hyde, David R.

    2011-01-01

    Purpose. To establish the zebrafish platinum mutant as a model for studying vision defects caused by syndromic albinism diseases such as Chediak-Higashi syndrome, Griscelli syndrome, and Hermansky-Pudlak syndrome (HPS). Methods. Bulked segregant analysis and candidate gene sequencing revealed that the zebrafish platinum mutation is a single-nucleotide insertion in the vps11 (vacuolar protein sorting 11) gene. Expression of vps11 was determined by RT-PCR and in situ hybridization. Mutants were analyzed for pigmentation defects and retinal disease by histology, immunohistochemistry, and transmission electron microscopy. Results. Phenocopy and rescue experiments determined that a loss of Vps11 results in the platinum phenotype. Expression of vps11 appeared ubiquitous during zebrafish development, with stronger expression in the developing retina and retinal pigmented epithelium (RPE). Zebrafish platinum mutants exhibited reduced pigmentation in the body and RPE; however, melanophore development, migration, and dispersion occurred normally. RPE, photoreceptors, and inner retinal neurons formed normally in zebrafish platinum mutants. However, a gradual loss of RPE, an absence of mature melanosomes, and the subsequent degradation of RPE/photoreceptor interdigitation was observed. Conclusions. These data show that Vps11 is not necessary for normal retinal development or initiation of melanin biosynthesis, but is essential for melanosome maturation and healthy maintenance of the RPE and photoreceptors. PMID:21330665

  4. A patient with Dent disease and features of Bartter syndrome caused by a novel mutation of CLCN5.

    Science.gov (United States)

    Okamoto, Takayuki; Tajima, Toshihiro; Hirayama, Tomoya; Sasaki, Satoshi

    2012-02-01

    Dent disease is an X-linked tubulopathy mainly caused by inactivating mutations of CLCN5. Features of Bartter syndrome such as hypokalemic metabolic alkalosis are rarely observed in patients with Dent disease. We report a Japanese male patient with Dent disease who also manifested features of Bartter syndrome. At the age of 3 years, he was diagnosed with Dent disease based on low molecular weight proteinuria and hypercalciuria. One year later, he was found to have features of Bartter syndrome, i.e., hypokalemia and metabolic alkalosis, and high levels of plasma renin activity and aldosterone with a normal blood pressure. Despite medical interventions, he developed chronic kidney disease stage 3 at the age of 21 years. To investigate the molecular basis of his disease, CLCN5, KCNJ1, SLC12A1, and CLCkb were analyzed and a novel mutation (Y567X) in CLCN5 was identified. Hypokalemic metabolic alkalosis is a rare manifestation in Dent disease. It is speculated that Dent patients with features of Bartter syndrome are susceptible to progression to renal failure. To study this hypothesis, additional observations and long-term follow-up of such patients are necessary.

  5. An unusual cause of spontaneous pneumothorax: the Mounier-Kuhn syndrome.

    LENUS (Irish Health Repository)

    Kent, B D

    2012-02-01

    We present the case of a 54-year old woman referred to our service with an unusual presentation of an under-diagnosed condition. A life-long non-smoker, she was referred to respiratory services by our emergency department with a left sided pneumothorax, progressive dyspnoea on exertion, and recurrent chest infections. Subsequent investigation yielded findings consistent with Mounier-Kuhn syndrome (Tracheobronchomegaly), a condition characterised by marked dilatation of the proximal airways, recurrent chest infection, and consequent emphysema and bronchiectasis. Although rarely diagnosed, some degree of Mounier-Kuhn syndrome may occur in up to 1 in 500 adults.

  6. An unusual cause of spontaneous pneumothorax: the Mounier-Kuhn syndrome.

    LENUS (Irish Health Repository)

    Kent, B D

    2011-05-01

    We present the case of a 54-year old woman referred to our service with an unusual presentation of an under-diagnosed condition. A life-long non-smoker, she was referred to respiratory services by our emergency department with a left sided pneumothorax, progressive dyspnoea on exertion, and recurrent chest infections. Subsequent investigation yielded findings consistent with Mounier-Kuhn syndrome (Tracheobronchomegaly), a condition characterised by marked dilatation of the proximal airways, recurrent chest infection, and consequent emphysema and bronchiectasis. Although rarely diagnosed, some degree of Mounier-Kuhn syndrome may occur in up to 1 in 500 adults.

  7. Edward’s syndrome: A rare cause of difficult intubation-utility of left molar approach

    Directory of Open Access Journals (Sweden)

    Teena Bansal

    2016-04-01

    Full Text Available Edward’s syndrome (trisomy 18 is an autosomal abnormality with dysmorphic face, visceral deformities and delayed mental and motor development including congenital heart disease. Challenges may arise during mask ventilation, laryngoscopy and/or intubation of the trachea due to dysmorphic face. Difficult airway cart should be kept ready. Left molar approach using a standard Macintosh blade improves the laryngoscopic view in patients with difficult midline laryngoscopy. We hereby present a case report of a 2 year old male child with Edward’s syndrome posted for evacuation and drainage of brain abscess, intubated successfully using left molar approach.

  8. Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

    Science.gov (United States)

    Tsurusaki, Yoshinori; Okamoto, Nobuhiko; Ohashi, Hirofumi; Kosho, Tomoki; Imai, Yoko; Hibi-Ko, Yumiko; Kaname, Tadashi; Naritomi, Kenji; Kawame, Hiroshi; Wakui, Keiko; Fukushima, Yoshimitsu; Homma, Tomomi; Kato, Mitsuhiro; Hiraki, Yoko; Yamagata, Takanori; Yano, Shoji; Mizuno, Seiji; Sakazume, Satoru; Ishii, Takuma; Nagai, Toshiro; Shiina, Masaaki; Ogata, Kazuhiro; Ohta, Tohru; Niikawa, Norio; Miyatake, Satoko; Okada, Ippei; Mizuguchi, Takeshi; Doi, Hiroshi; Saitsu, Hirotomo; Miyake, Noriko; Matsumoto, Naomichi

    2012-03-18

    By exome sequencing, we found de novo SMARCB1 mutations in two of five individuals with typical Coffin-Siris syndrome (CSS), a rare autosomal dominant anomaly syndrome. As SMARCB1 encodes a subunit of the SWItch/Sucrose NonFermenting (SWI/SNF) complex, we screened 15 other genes encoding subunits of this complex in 23 individuals with CSS. Twenty affected individuals (87%) each had a germline mutation in one of six SWI/SNF subunit genes, including SMARCB1, SMARCA4, SMARCA2, SMARCE1, ARID1A and ARID1B.

  9. Xeroderma pigmentosum is a definite cause of Huntington's disease-like syndrome.

    Science.gov (United States)

    Garcia-Moreno, Hector; Fassihi, Hiva; Sarkany, Robert P E; Phukan, Julie; Warner, Thomas; Lehmann, Alan R; Giunti, Paola

    2018-01-01

    Xeroderma pigmentosum is characterized by cutaneous, ophthalmological, and neurological features. Although it is typical of childhood, late presentations can mimic different neurodegenerative conditions. We report two families presenting as Huntington's disease-like syndromes. The first case (group G) presented with neuropsychiatric features, cognitive decline and chorea. Typical lentigines were only noticed after the neurological disease started. The second case (group B) presented adult-onset chorea and neuropsychiatric symptoms after an aggressive ocular melanoma. Xeroderma pigmentosum can manifest as a Huntington's Disease-like syndrome. Classic dermatological and oncological features have to be investigated in choreic patients with negative genetic tests for Huntington's disease-like phenotypes.

  10. Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome).

    Science.gov (United States)

    Buchanan, Daniel D; Rosty, Christophe; Clendenning, Mark; Spurdle, Amanda B; Win, Aung Ko

    2014-01-01

    Carriers of a germline mutation in one of the DNA mismatch repair (MMR) genes have a high risk of developing numerous different cancers, predominantly colorectal cancer and endometrial cancer (known as Lynch syndrome). MMR gene mutation carriers develop tumors with MMR deficiency identified by tumor microsatellite instability or immunohistochemical loss of MMR protein expression. Tumor MMR deficiency is used to identify individuals most likely to carry an MMR gene mutation. However, MMR deficiency can also result from somatic inactivation, most commonly methylation of the MLH1 gene promoter. As tumor MMR testing of all incident colorectal and endometrial cancers (universal screening) is becoming increasingly adopted, a growing clinical problem is emerging for individuals who have tumors that show MMR deficiency who are subsequently found not to carry an MMR gene mutation after genetic testing using the current diagnostic approaches (Sanger sequencing and multiplex ligation-dependent probe amplification) and who also show no evidence of MLH1 methylation. The inability to determine the underlying cause of tumor MMR deficiency in these "Lynch-like" or "suspected Lynch syndrome" cases has significant implications on the clinical management of these individuals and their relatives. When the data from published studies are combined, 59% (95% confidence interval [CI]: 55% to 64%) of colorectal cancers and 52% (95% CI: 41% to 62%) of endometrial cancers with MMR deficiency were identified as suspected Lynch syndrome. Recent studies estimated that colorectal cancer risk for relatives of suspected Lynch syndrome cases is lower than for relatives of those with MMR gene mutations, but higher than for relatives of those with tumor MMR deficiency resulting from methylation of the MLH1 gene promoter. The cause of tumor MMR deficiency in suspected Lynch syndrome cases is likely due to either unidentified germline MMR gene mutations, somatic cell mosaicism, or biallelic somatic

  11. Sheehan's Syndrome-The Most Common Cause of Panhypopituitarism at Moderate Altitude: A Sub-Himalayan Study.

    Science.gov (United States)

    Mokta, Jatinder; Ranjan, Asha; Thakur, Surinder; Bhawani, Rajesh; Mokta, Kiran K; Sharma, Jai Bharat; Kumar, Manish

    2017-12-01

    Panhypopituitarism is a rare disorder with varied clinical presentation having various etiologies. Sheehan's syndrome (SS) is decreasing in frequency worldwide and is a rare cause of panhypopituitarism in developed nations. A retrospective study done between May 2011 and May 2015 in tertiary care hospital. We reviewed the records of patients with hypopituitarism. Clinical features, hormonal profile and radiological investigations noted. Total 14 patients of panhypopituitarism included with average duration of symptoms 1.93± 1.96 years. four (28.57%) were males and ten (71.43%) were females with mean age of diagnosis 37.78± 13.68 years. Sheehan's syndrome (SS) was the most common cause of panhypopituitarism in 57.14%(8 patients), followed by post surgery in 14.28% (2 patients). 80% of women had SS with a mean duration of symptoms 2.39±1.54 years. Sheehan's syndrome is not uncommon in developing countries, High degree of clinical suspicion is desired as clinical features are most often subtle.

  12. Arts syndrome is caused by loss-of-function mutations in PRPS1

    NARCIS (Netherlands)

    de Brouwer, Arjan P. M.; Williams, Kelly L.; Duley, John A.; van Kuilenburg, Andre B. P.; Nabuurs, Sander B.; Egmont-Petersen, Michael; Lugtenberg, Dorien; Zoetekouw, Lida; Banning, Martijn J. G.; Roeffen, Melissa; Hamel, Ben C. J.; Weaving, Linda; Ouvrier, Robert A.; Donald, Jennifer A.; Wevers, Ron A.; Christodoulou, John; van Bokhoven, Hans

    2007-01-01

    Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Linkage analysis in a Dutch family and an Australian family suggested that the candidate gene maps to Xq22.1-q24.

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

    DEFF Research Database (Denmark)

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

    2010-01-01

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

  14. Nail patella syndrome: a rare cause of renal failure in a young adult ...

    African Journals Online (AJOL)

    Nail Patella Syndrome (NPS) is a rare hereditary disease affecting multiple systems with predominant involvement of Kidney, Bones and Nails and Eyes. We report a case of NPS which presented as renal failure in a 22 year old male. The patient was admitted with decreased urine output and features of fluid overload and ...

  15. Glucose ingestion causes cardiac repolarization disturbances in type 1 long QT syndrome patients and healthy subjects

    DEFF Research Database (Denmark)

    Hyltén-Cavallius, Louise; Iepsen, Eva W; Christiansen, Michael

    2017-01-01

    BACKGROUND: Both hypoglycemia and severe hyperglycemia constitute known risk factors for cardiac repolarization changes potentially leading to malignant arrhythmias. Patients with loss of function mutations in KCNQ1 are characterized by long QT syndrome (LQTS) and may be at increased risk...

  16. Giant pseudomeningocele causing urinary obstruction in a patient with Marfan syndrome.

    Science.gov (United States)

    Stone, Jeremy G; Bergmann, Liisa L; Takamori, Ryan; Donovan, Daniel J

    2015-07-01

    Defective collagen biosynthesis in Marfan syndrome predisposes to dural defects such as dural ectasia, meningocele, and pseudomeningocele; thus, an increased index of suspicion for these conditions should be present in the clinical setting of Marfan syndrome. The authors describe a young woman with Marfan syndrome who was being treated with anticoagulants for a prosthetic heart valve and who presented with a spontaneous retroperitoneal hemorrhage requiring surgical evacuation. No CSF leak was encountered at surgery, but she developed progressively more severe positional headaches over the following year. She then experienced the sudden onset of acute urinary obstruction, at which time CT revealed a 17 × 15 × 13-cm presacral pseudomeningocele communicating with the thecal sac through a sacral bone defect. An anterior surgical approach was used for drainage of the pseudomeningocele as well as for primary closure of the dural defect with a bovine pericardial patch and autologous subcutaneous fat graft. After a short period of lumbar subarachnoid drainage of the CSF, the patient was able to resume normal activity without recurrent symptoms. To the authors' knowledge, such a pseudomeningocele in a patient with Marfan syndrome has been reported only twice, and this case features the largest pseudomeningocele to date. They also review the pertinent literature regarding presentation, diagnosis, and management of these lesions.

  17. Herpes zoster ophthalmicus and strabismus: a unique cause of secondary Brown syndrome.

    Science.gov (United States)

    Broderick, Kevin M; Raymond, William R; Boden, John H

    2017-08-01

    Herpes zoster ophthalmicus can be associated with a variety of ocular and visual sequelae, including isolated or even multiple cranial neuropathies, potentially affecting the oculomotor, trochlear, or abducens nerves. We report a case of a secondary Brown syndrome following resolution of a unilateral isolated trochlear nerve palsy associated with herpes zoster ophthalmicus in an immunocompetent 57-year-old man. Published by Elsevier Inc.

  18. Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome

    NARCIS (Netherlands)

    O'Grady, Gina L.; Verschuuren, Corien; Yuen, Michaela; Webster, Richard; Menezes, Manoj; Fock, Johanna M.; Pride, Natalie; Best, Heather A.; Damm, Tatiana Benavides; Turner, Christian; Lek, Monkol; Engel, Andrew G.; North, Kathryn N.; Clarke, Nigel F.; MacArthur, Daniel G.; Kamsteeg, Erik-Jan; Cooper, Sandra T.

    2016-01-01

    Objective: To describe the clinical and genetic characteristics of presynaptic congenital myasthenic syndrome secondary to biallelic variants in SLC18A3. Methods: Individuals from 2 families were identified with biallelic variants in SLC18A3, the gene encoding the vesicular acetylcholine transporter

  19. Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

    DEFF Research Database (Denmark)

    Aligianis, Irene A; Johnson, Colin A; Gissen, Paul

    2005-01-01

    Warburg Micro syndrome (WARBM1) is a severe autosomal recessive disorder characterized by developmental abnormalities of the eye and central nervous system and by microgenitalia. We identified homozygous inactivating mutations in RAB3GAP, encoding RAB3 GTPase activating protein, a key regulator...

  20. An Exploration of Causes of Non-Literal Language Problems in Individuals with Asperger Syndrome

    Science.gov (United States)

    Martin, Ingerith; McDonald, Skye

    2004-01-01

    Individuals with Asperger Syndrome (AS), a high functioning variant of Autism, are often noted to possess intact language ability, yet fail to use this language capacity to engage in interactive communication. This difficulty using language in a social context has been referred to as a deficit in pragmatic language. In particular, difficulty…