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  1. Imaging of Budd-Chiari syndrome

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

    2007-08-15

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

  2. Das Budd-Chiari-Syndrom

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    Angermayr B

    2008-01-01

    Full Text Available Der Artikel gibt einen aktuellen Überblick über Definition, Pathophysiologie, Klinik undTherapie des Budd-Chiari-Syndroms, welches eineseltene und potenziell schwer verlaufende vaskuläre Lebererkankung ist.

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

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

    2007-01-15

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

  4. Endomyocardial fibrosis as a cause of Budd-Chiari syndrome and fatal pulmonary embolism.

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    Bestetti, Reinaldo B; Silva, Carolina M P D C; Ardito, Sabrina Q; Theodoropoulos, Tatiana A D; Cury, Patrícia M; Corbucci, Hélio A R

    2010-01-01

    A 24-year-old-man had right-sided heart failure of 3 months' duration. A Doppler echocardiogram revealed atrium and right ventricular enlargement, obliteration of the right ventricular apex, and a mass with an echolucent center measuring 20x21 mm in the right ventricular outlet. He died of pulmonary embolism. At autopsy, a huge organized thrombus obliterating the right ventricular apex passing through the tricuspid valve to the right atrium and then extending to the inferior vena cava up to the suprahepatic veins was seen. Histologically, an intense fibrotic thickening of the endomyocardium extending into the myocardium was observed. Cardiac thrombosis associated with endomyocardial fibrosis should be added to the list of causes of Budd-Chiari syndrome.

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

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    Joseph Frankl

    2016-01-01

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

  6. Endovascular treatment of Budd-Chiari syndrome

    Institute of Scientific and Technical Information of China (English)

    MENG Qing-yi; SUN Nian-feng; WANG Jia-xiang; WANG Rui-hua; LIU Zhao-xuan

    2011-01-01

    Background Budd-Chiari syndrome (BCS) is a posthepatic portal hypertension caused by the obstruction of the lumen of the hepatic veins or the proximal inferior vena cava (IVC).This study aimed to evaluate the clinical experience of interventional therapy for Budd-Chiari syndrome.Methods IVC venography was carried out first,the obliteration or stenosis in the IVC was opened or dilated with the hard guided wire or Rups100 puncture needle and balloon,then a stent was routinely implanted for the type of obliteration or stenosis.Results The procedure was successful in 821 out of 903 cases including IVC intervention in 760 cases,and hepatic vein intervention in 61 cases.An IVC stent was used in 517 cases and hepatic vein stent in 19 cases.There were no pulmonary embolisms,but acute renal failure occurred in eight cases,hepatic coma in two cases and acute heart failure in 43 cases.Two patients died in this group and five cases were complicated with acute IVC thrombosis.Follow up of 7 to 124 months was made in 679 cases with recurrence found in 59 cases.Conclusions Interventional therapy is safe and effective with a fast recovery for most types of BCS.It is gradually becoming the first therapeutic choice.

  7. Small hepatic veins Budd-Chiari syndrome.

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    Riggio, Oliviero; Marzano, Chiara; Papa, Alessia; Pasquale, Chiara; Gasperini, Maria Ludovica; Gigante, Antonietta; Valla, Dominique Charles; Plessier, Aurélie; Amoroso, Antonio

    2014-05-01

    Budd-Chiari syndrome is a rare disorder characterized by hepatic venous outflow obstruction at any level from the small hepatic veins to the atrio-caval junction, in the absence of heart failure or constrictive pericarditis. Various imaging modalities are available for investigating the gross hepatic vascular anatomy but there are rare forms of this disease where the obstruction is limited to the small intrahepatic veins, with normal appearance of the large hepatic veins at imaging. In this cases only a liver biopsy can demonstrate the presence of a small vessels outflow block. We report two cases of small hepatic veins Budd-Chiari syndrome.

  8. Acute Liver Failure Due to Budd-Chiari Syndrome in the Setting of Cardiac Synovial Sarcoma

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    Stine, Jonathan G.; Newton, Kelly; Vinayak, Ajeet G

    2015-01-01

    Primary malignant tumors of the heart, specifically cardiac sarcomas, are rare and mainly diagnosed at autopsy. Acute Budd-Chiari syndrome is a recognized cause of acute liver failure and has been associated with several rare cardiac tumors: atrial myxoma, caval rhabdomyosarcoma, and primary cardiac adenocarcinoma. We present the first case of a fatal, highly differentiated cardiac synovial sarcoma that presented as acute liver failure from Budd-Chiari syndrome.

  9. Radical correction of Budd-Chiari syndrome

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    LI Xiao-qiang; WANG Zhong-gao; MENG Qing-you; SANG Hong-fei; QIAN Ai-min; DUAN Peng-fei; RONG Jian-jie

    2007-01-01

    Background Interventional therapy is widely accepted as the first choice for the treatment of the Budd-Chiari syndrome,but the use of radical correctional therapy should not be discarded. This study describes radical correction by controlling bleeding from distal end of pathological segment of the inferior vena cava (IVC) and discusses potential surgical errors and postoperative complications.Methods Of the 216 patients in the study, 78 were treated with simple membranectomy, 64 with dissection of the pathological segment of the IVC and vascular prosthesis or pericardial patch plasty, 60 with resection of the pathological segment of the IVC and orthotopic graft transplantation with vascular prosthesis, and 14 with resection of the occlusive main hepatic vein and its upper IVC, hepatic venous outflow plasty and vascular prosthesis orthotopic graft transplantation from the hepatic venous entrance to the IVC of right atrial ostium.Results Except 14 cases who were discharged after hepatic vein outflow plasty, four cases died postoperatively, and 198 patients were discharged without complications. The symptoms of 15 patients were relieved partially and 2 without any change. There were no deaths intraoperatively. Of the 112 cases who were followed up for 72 months, 13 suffered from a relapse.Conclusions Radical correction is a beneficial therapy in the treatment of Budd-Chiari syndrome.

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

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    Tawhida Y. Abdel Ghaffar

    2011-12-01

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

  11. Budd-Chiari syndrome as an initial presentation of hepatocellular carcinoma: a case report.

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    Bălăceanu, Lavinia Alice; Diaconu, Camelia Cristina; Aron, Gheorghiţa

    2014-06-01

    We report the case of a 84-year-old admitted with symptoms of congestive heart failure. Ultrasonography revealed a hyperechoic nodule in the left lobe of the liver, with a peripheral hypoechoic rim, multiple irregular hypoechoic nodules in both hepatic lobes, portal vein, inferior vena cava, and right atrium thrombosis. On ultrasonographic and alpha-fetoprotein criteria the case was interpreted as hepatocellular carcinoma with Budd-Chiari syndrome. The particularity of the case is the initial presentation of the hepatocellular carcinoma as Budd-Chiari syndrome. The inferior vena cava and right atrium thrombosis, as a cause of secondary Budd-Chiari syndrome in a patient with hepatocellular carcinoma, has been rarely reported.

  12. Budd-Chiari syndrome: Etiology, pathogenesis and diagnosis

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    Aydinli, Musa; Bayraktar, Yusuf

    2007-01-01

    Budd-Chiari syndrome is a congestive hepatopathy caused by blockage of hepatic veins. This syndrome occurs in 1/100 000 in the general population. Hypercoagulable state could be identified in 75% of the patients; more than one etiologic factor may play a role in 25% of the patients. Primary myeloproliferative diseases are the leading cause of the disease. Two of the hepatic veins must be blocked for clinically evident disease. Liver congestion and hypoxic damage of hepatocytes eventually result in predominantly centrilobular fibrosis. Doppler ultrasonography of the liver should be the initial diagnostic procedure. Hepatic venography is the reference procedure if required. Additionally liver biopsy may be helpful for differential diagnosis. The prognosis of the chronic form is acceptable compared to other chronic liver diseases. PMID:17569137

  13. Budd-Chiari syndrome: Etiology, pathogenesis and diagnosis

    Institute of Scientific and Technical Information of China (English)

    Musa Aydinli; Yusuf Bayraktar

    2007-01-01

    Budd-Chiari syndrome is a congestive hepatopathy caused by blockage of hepatic veins. This syndrome occurs in 1/100000 in the general population. Hypercoagulable state could be identified in 75% of the patients; more than one etiologic factor may play a role in 25% of the patients. Primary myeloproliferative diseases are the leading cause of the disease. Two of the hepatic veins must be blocked for clinically evident disease. Liver congestion and hypoxic damage of hepatocytes eventually result in predominantly centrilobular fibrosis. Doppler ultrasonography of the liver should be the initial diagnostic procedure. Hepatic venography is the reference procedure if required. Additionally liver biopsy may be helpful for differential diagnosis. The prognosis of the chronic form is acceptable compared to other chronic liver diseases.

  14. Eculizumab in paroxysmal nocturnal hemoglobinuria with Budd-Chiari syndrome progressing despite anticoagulation

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    Brodsky Andrés

    2012-09-01

    Full Text Available Abstract Paroxysmal nocturnal hemoglobinuria (PNH is a progressive, life-threatening disorder characterized by chronic intravascular hemolysis caused by uncontrolled complement activation. Hepatic vein thrombosis (Budd-Chiari syndrome is common in PNH patients. This case report describes the response to eculizumab (a humanized monoclonal antibody that inhibits terminal complement activation in a 25-year-old male with progressive liver function deterioration despite standard anticoagulation therapy and transjugular intrahepatic porto-systemic shunt. The patient presented with anemia, severe thrombocytopenia, headache, abdominal pain, and distention. He was diagnosed with PNH, cerebral vein thrombosis, and Budd-Chiari syndrome. Despite adequate anticoagulation, diuretic administration, and placement of a transjugular shunt, additional thrombotic events and progressive liver damage were observed. Eculizumab therapy was initiated, resulting in rapid blockade of intravascular hemolysis, increased platelet counts, ascites resolution, and liver function recovery, all of which are presently sustained. Since starting eculizumab the patient has had no further thrombotic events and his quality of life has dramatically improved. This is the first report to confirm the role of complement-mediated injury in the progression of Budd-Chiari syndrome in a patient with PNH. This case shows that terminal complement blockade with eculizumab can reverse progressive thromboses and hepatic failure that is unresponsive to anticoagulation therapy and suggests that early initiation of eculizumab should be included in the therapeutic regimen of patients with PNH-related Budd-Chiari syndrome.

  15. [Hepatic retransplant and acute Budd Chiari syndrome. Case report].

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    Savio-López, Andrés M; Lara-Molina, Evelin E; Soliva-Domínguez, Ramón; Capo-Jorge, José A; Gala-López, Boris; González-Castillo, Fernando

    2005-01-01

    Hepatic retransplant constitutes 10-20% of all orthotopic hepatic transplants. The piggy-back technique was used in hepatectomy with conservation of the retrohepatic vena cava. A side-to-side cavo-cavostomy technique is described in the case of hepatic congestion or acute Budd Chiari syndrome post-transplant. This is an extremely serious condition and can result in death. We present the first case of hepatic retransplant performed in Hospital Hermanos Ameijeiras in a patient who received who received his first transplant due to non-resectable hepatocarcinoma and who required retransplant due to acute rejection and graft dysfunction. During retransplant, the Belghiti side-to-side anastomosis technique was used to resolve the acute Budd Chiari syndrome that presented itself. Post-surgical evolution at 18 months was satisfactory without evidence of complications of the graft. Acute Budd Chiari syndrome post-transplant can satisfactorily be resolved with the Belghiti technique, although it is preferable to take prophylactic measures to avoid it.

  16. Budd-Chiari like syndrome in decompensated alcoholic steatohepatitis and liver cirrhosis

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    Carlos Robles-Medranda; Hannah Lukashok; Beatriz Biccas; Vera L Pannain; Homero S Fogaca

    2006-01-01

    A rare case of pseudo-Budd-Chiari Syndrome in a patient with decompensated alcoholic liver disease is reported.Although clinical and radiological findings suggested Budd-Chiari Syndrome, the liver biopsy revealed micronodular cirrhosis and absence of histological signs of hepatic outflow obstruction.

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

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

    2015-02-15

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

  18. Etiology and portal vein thrombosis in Budd-Chiari syndrome

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    Oguz Uskudar; Meral Akdogan; Nurgul Sasmaz; Sevinc Yilmaz; Muharrem Tola; Burhan Sahin

    2008-01-01

    AIM: To research the etiology, portal vein thrombosis and other features of Budd-Chiari syndrome (BCS)patients prospectively.METHODS: A total of 75 patients (40 female, 35 male) who were diagnosed between January 2002 and July 2004 as having BCS were studied prospectively.Findings from on physical examination, ultrasonography,duplex ultrasonography and venography were analyzed.Hemogram and blood chemistry were studied at the time of diagnosis and on each hospital visit. Bone marrow examination and immune phenotyping were performed by a hematologist when necessary. Protein C, S, antithrombin Ⅲ, activated protein C resistance,and anticardiolipin antibodies, antinuclear antibodies,and anti ds-DNA were studied twice. The presence of ascite, esophageal varices, and portal thrombosis were evaluated at admission and on every visit.RESULTS: At least one etiological factor was determined in 54 (72%) of the patients. The etiology could not be defined in 21 (28%) patients. One etiological factor was found in 39, 2 factors in 14 and 3 factors in 1 patient.The most common cause was the web (16%), the second was Hydatid disease (11%), the third was Behcet's disease (9%). Portal vein thrombosis was present in 11 patients and at least one etiology was identified in 9 of them (82%).CONCLUSION: Behcet's disease and hydatid disease are more prominent etiological factors in Turkey than in other countries. Patients with web have an excellent response to treatment without signs of portal vein thrombosis while patients having thrombofilic factors more than one are prone to develop portal vein thrombosis with worse clinical outcome.

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

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

    2015-10-01

    Pathogenesis and clinical characteristics of the Budd-Chiari syndrome (BCS) in Asia are somewhat different from the ones observed in Western countries. Obstruction of the inferior vena cava (IVC) or of the hepatic veins is caused to a greater extent by membranous webs than by thrombosis. Impaired fibrinolysis has been found in European patients with BCS, but its status in Chinese patients with this condition is still unknown. To explore the characteristics of fibrinolysis in BCS patients in this country, we measured the euglobulin lysis time (ELT) for overall fibrinolysis and the plasma levels of five fibrinolytic components in 65 Chinese patients with BCS and 43 healthy controls. In patients, ELTs were slightly shorter than in controls (mean, 293 vs. 357 min, P ELT (mean, 440 min) than the older patient groups (30 ≤ age ≤ 44, 45 ≤ age ≤ 54, age>54 years; mean ELT = 242, 198, and 289 min, respectively, all P ELT (mean, 367 min) than the combined hepatic vein and IVC or the independent IVC occlusion subgroup (mean ELT = 233 and 260 min, both P ELT did not show significant differences between Child-Pugh class A and B subgroups (mean, 267 vs. 333 min, P > 0.05). ELT in the subgroup without thrombosis was shorter than in controls (mean, 288 vs. 358 min, P 0.05). By and large, overall fibrinolytic potential was slightly increased in Chinese patients with BCS in this study, but fibrinolysis differed according to its baseline characteristics. Compared with the one seen in BCS patients from Western countries, BCS in China exhibits certain special changes in fibrinolysis and we were able to explain some of these changes.

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

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    Shinjiro Inomata

    2008-08-01

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

  1. Budd-Chiari syndrome complicating essential thrombocythemia in an adolescent: favorable outcome of TIPS procedure.

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    Tantawy, Azza Abdel-Gawad; Adly, Amira Abdel-Monem; Elhenawy, Yasmine Ibrahim

    2015-09-01

    Budd-Chiari syndrome (BCS) is a liver disorder characterized by hepatic venous outflow obstruction, mainly resulting from thrombosis of the terminal part of the hepatic veins or the inferior vena cava. It causes hepatic congestion, ascites, portal hypertension, and collateral circulation between the obstructed and contiguous patent venous territories. BCS is reported complicating myeloproliferative disorders, as well other prothrombotic events. Essential thrombocythemia is one of the most frequent myeloproliferative disorders that cause BCS, and in some cases, it may be the initial presentation. Many treatment options have been proposed for BCS, routine anticoagulation therapy being recommended as the first therapeutic approach.

  2. Aetiological factors of Budd-Chiari syndrome in Algeria

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    Afredj, Nawel; Guessab, Nawal; Nani, Abdelbasset; Faraoun, Sid Ahmed; Ouled Cheikh, Ibtissem; Kerbouche, Rafik; Hannoun, Djouhar; Amir, Zine Charef; Ait Kaci, Hayet; Bentabak, Kamel; Plessier, Aurélie; Valla, Dominique-Charles; Cazals-Hatem, Valerie; Denninger, Marie-Hélène; Boucekkine, Tadjeddine; Debzi, Nabil

    2015-01-01

    AIM: To study the clinical presentation of Budd-Chiari syndrome (BCS) and identify the aetiologies of this disease in Algeria. METHODS: Patients with BCS, hospitalised in our unit from January 2004 until June 2010 were included and the aetiological factors were assessed. Patients presenting a BCS in the setting of advanced-stage cirrhosis or a liver transplantation were excluded from the study. The diagnosis was established when an obstruction of hepatic venous outflow (thrombosis, stenosis or compression) was demonstrated. We diagnosed myeloproliferative disease (MPD) by bone marrow biopsy and V617F JAK2 mutation. Anti-phospholipid syndrome (APLS) was detected by the presence of anticardiolipin antibodies, anti-β2 glycoprotein antibodies and Lupus anticoagulant. We also detected paroxysmal nocturnal haemoglobinuria (PNH) by flow cytometry. Celiac disease and Behçet disease were systematically investigated in our patients. Hereditary anticoagulant protein deficiencies were also assessed. We tested our patients for the G20210A mutation at Beaujon Hospital. Imaging procedures were performed to determine a local cause of BCS, such as a hydatid cyst or a liver tumour. RESULTS: One hundred and fifteen patients were included. Mean follow up: 32.12 mo. Mean age: 34.41 years, M/F = 0.64. Chronic presentation was frequent: 63.5%. The revealing symptoms for the BCS were ascites (74.8%) and abdominal pain (42.6%). The most common site of thrombosis was the hepatic veins (72.2%). Involvement of the inferior vena cava alone was observed in 3 patients. According to the radiological investigations, BCS was primary in 94.7% of the cases (n = 109) and secondary in 5.2% (n = 6). An aetiology was identified in 77.4% of the patients (n = 89); it was multifactorial in 27% (n = 31). The predominant aetiology of BCS in our patients was a myeloproliferative disease, observed in 34.6% of cases. APLS was found in 21.7% and celiac disease in 11.4%. Other acquired conditions were: PNH (n

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

    NARCIS (Netherlands)

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

    2001-01-01

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

  4. Distant skeletal muscle metastasis from intrahepatic cholangiocarcinoma presenting as Budd-Chiari syndrome

    Institute of Scientific and Technical Information of China (English)

    Oh Sung Kwon; Young Sook Park; Jong Eun Joo; Dae Won Jun; Sang Heum Kim; Mee Yeon Chung; Nam In Kim; Moon Hee Song; Han Hyo Lee; Seung Hwan Kim; Yoon Ju Jo

    2007-01-01

    Intrahepatic cholangiocarcinoma is a malignant neoplasm arising from the biliary epithelium, which frequently invades adjacent organs or metastasizes to other visceral organs such as the lungs, bones, adrenals, and brain. However, distant skeletal muscle metastasis of cholangiocarcinoma has never been described before to the best of our knowledge and, furthermore, Budd-Chiari syndrome secondary to intrahepatic cholangiocarcinoma is also extremely rare. Here we present the first case overall of distant muscle metastasis from intrahepatic cholangiocarcinoma presenting as Budd-Chiari syndrome. A 44-year-old man admitted to the hospital with complaints of abdominal distension, edema of both legs, back pain and anorexia of 30 o" duration. Computed tomography and ultrasonography-guided percutaneous muscle biopsy established intrahepatic cholangiocarcinoma with disseminated thrombosis from inferior vena cava to bilateral iliac and femoral veins, and multiple skeletal muscle metastases in bilateral buttock and erector spinal muscle.

  5. Budd-Chiari syndrome: diagnosis with ultrasound and nuclear medicine calcium colloid liver scan following non-diagnostic contrasted CT scan

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    Mulholland, J.P.; Fong, S.M.; Kafaghi, F.A.; Fong, W. [Royal Brisbane Hospital, Herston, QLD (Australia)

    1997-02-01

    Budd-Chiari syndrome is a rare condition characterized by thrombosis within the hepatic veins and inferior vena cava. A case of Budd-Chiari syndrome is presented in a patient who experienced acutely 3 days following laparoscopic cholecystectomy for a calculous cholecystitis. A discussion of pathology and findings on calcium colloid scintigram, CT scan and Doppler ultrasound is provided. 5 refs., 4 figs.

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

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    Morard Isabelle

    2006-03-01

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

  7. Long-term effect of stent placement in 115 patients with Budd-Chiari syndrome

    Institute of Scientific and Technical Information of China (English)

    Chun-Qing Zhang; Li-Na Fu; Lin Xu; Guo-Quan Zhang; Tao Jia; Ji-Yong Liu; Cheng-Yong Qin; Ju-Ren Zhu

    2003-01-01

    AIM: To report the long-term effect of stent placement in 115 patients with Budd-Chiari syndrome (BCS).METHODS: One hundred and fifteen patients with BCS were treated by percutaneous stent placement. One hundred and two patients had IVC stent placement, 30 patients had HV stent placement, 17 of them underwent both IVC stent and HV stent. All the procedures were performed with guidance of ultrasound.RESULTS: The successful rates in placing IVC stent and HV stent were 94 % (96/102) and 87 % (26/30), respectively.Ninety-seven patients with 112 stents (90 IVC stents, 22 HV stents) were followed up. 96.7 %(87/90) IVC stents and 90.9 %(20/22) HV stents remained patent during follow up periods (mean 49 months, 45 months, respectively). Five of 112 stents in the 97 patients developed occlusion. Absence of anticoagulants after the procedure and types of obstruction (segmental and occlusive) before the procedure were related to a higher incidence of stent occlusion.CONCLUSION: Patients with BCS caused by short length obstruction can be treated by IVC stent placement, HV stent placement or both IVC and HV stent placement depending on the sites of obstruction. The long-term effect is satisfactory.Anticoagulants are strongly recommended after the procedure especially for BCS patients caused by segmental occlusion.

  8. Budd-Chiari syndrome during nephrotic relapse in a patient with resistance to activated protein C clotting inhibitor.

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    Gambaro, G; Patrassi, G; Pittarello, F; Nardellotto, A; Checchetto, S; D'Angelo, A

    1998-10-01

    It has long been known that patients with nephrotic syndrome have a hypercoagulable state, which explains the association between nephrotic syndrome, renal vein thrombosis, and thromboembolism. However, the Budd-Chiari syndrome has never been reported in nephrotic patients. This is the first report of such an association that, most likely, depended on a primary resistance to activated protein C.

  9. Necessity and indications of invasive treatment for Budd-Chiari syndrome

    Institute of Scientific and Technical Information of China (English)

    Yang Fu; Yu-Ling Sun; Xiu-Xian Ma; Pei-Qin Xu; Liu-Shun Feng; Zhe Tang; Sheng Guan; Zhi-Wei Wang; Cheng-Han Luo

    2011-01-01

    BACKGROUND: The development of collaterals in Budd-Chiari syndrome has been described and these collaterals play an important role in the presentation of this disease. These collaterals are diagnostic and their use in management strategy has never been evaluated. This study aimed to investigate the indications, feasibility and necessity of invasive treatment for patients with Budd-Chiari syndrome and to determine whether such a strategy is necessary for optimal management. METHODS: Twenty-nine patients who had been treated at our unit were enrolled in this study. Based on physical and biochemical examination, and hemodynamic compensation by collaterals, 18 patients underwent radiological intervention (group A), while the other 11 had no invasive treatment (group B). The related hemodynamic parameters were acquired when percutaneous angiography was performed. RESULTS: In group A, all patients underwent successfully inferior vena cava (IVC) balloon angioplasty with or without stenting. Four patients also underwent hepatic vein angioplasty. In these patients, the mean IVC pressure before and after treatment was statistically different (29.3±9.2 vs 15.1±4.6 mmHg, P0.05). Median follow-up was 32.3 months (mean 21.3 months; range 3-61 months). In the course of follow-up, the patients in group A survived with good systemic status except for re-stenosis in one patient who underwent re-canalization of the IVC. In group B, 10 patients had good systemic status except one patient who had a meso-caval shunt because of deterioration. CONCLUSIONS: The rationale of "early diagnosis and early treatment" is not suitable for all patients with Budd-Chiari syndrome. Satisfactory survival can be achieved in some patients without invasive treatment, who are completely compensated by rich collaterals. Nonetheless, a positive treatment procedure should be performed if the patient's situation worsens in the course of regular follow-up.

  10. Reestablishment of second hepatic hilum: a new technique for the treatment of Budd-Chiari syndrome

    Institute of Scientific and Technical Information of China (English)

    杨建勇; 张翎; 余深平; 陈伟; 庄文权; 冯敢生; 梁惠民

    2003-01-01

    Objective To assess a new intervention for reestablishing the second hepatic hilum by means of puncturing and stenting the liver tissue between the intrahepatic vena cava and a hepatic vein for the treatment of Budd-Chiari syndrome (BCS).Methods Two patients with BCS, in which no second hepatic hilum structure was found in transhepatic venography, underwent an interventional procedure of canalizing and stenting the parenchyma tract between the intrahepatic vena cava and a hepatic vein. The procedures were performed in the percutaneous transhepatic and right jugular vein, respectively. A metallic stent with a 10 mm diameter was implanted to maintain tract patency. Results The free hepatic vein pressure (FHVP) of both patients decreased from 37 mm Hg to 5 mm Hg and from 28 mm Hg to 4 mm Hg, respectively, after the procedure. The complication of hemorrhage due to puncture was observed in one patient. Both patients maintained hepatic improvements in 3-year follow-up. Both clinical conditions and laboratory values were significantly improved after the procedure. Furthermore, the stented canals (the reestablished second hepatic hilum) maintained patent with normal FHVP, which was confirmed by control venography.Conclusion The new technique provides a simple, safe, effective, and relatively inexpensive treatment of Budd-Chiari syndrome. Long-lasting effectiveness is expected.

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

    Institute of Scientific and Technical Information of China (English)

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

    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 BuddChiari 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.

  12. 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

    -up the stents remain open and the patient is symptom free. This successful combination of stent placement and TIPS has not been described before. The case report is followed by a review of the literature on the use of angioplasty in short hepatic vein stenosis and TIPS in Budd-Chiari syndrome. It is concluded...... 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....

  13. Changing spectrum of Budd-Chiari syndrome in India with special reference to non-surgical treatment

    Institute of Scientific and Technical Information of China (English)

    Deepak N Amarapurkar; Sundeep J Punamiya; Nikhil D Patel

    2008-01-01

    AIM: To evaluate patterns of obstruction, etiological spectrum and non-surgical treatment in patients with Budd-Chiari syndrome in India.METHODS: Forty-nine consecutive cases of Budd-Chiari syndrome (BCS) were prospectively evaluated.All patients with refractory ascites or deteriorating liver function were, depending on morphology of inferior vena cava (IVC) and/or hepatic vein (HV) obstruction,triaged for radiological intervention, in addition to anticoagulation therapy. Asymptomatic patients, patients with diuretic-responsive ascites and stable liver function,and patients unwilling for surgical intervention were treated symptomatically with anticoagulation.RESULTS: Mean duration of symptoms was 41.5±11.2 (range = 1-240) mo. HV thrombosis (HVT) was present in 29 (59.1%), IVC thrombosis in eight (16.3%),membranous obstruction of IVC in two (4%) and both IVC-HV thrombosis in 10 (20.4%) cases. Of 35 cases tested for hypercoagulability, 27 (77.1%) were positive for one or more hypercoagulable states. Radiological intervention was technically successful in 37/38 (97.3%):IVC stenting in seven (18.9%), IVC balloon angioplasty in two (5.4%), combined IVC-HV stenting in two (5.4%),HV stenting in 11 (29.7%), transjugular intrahepatic portosystemic shunt (TIPS) in 13 (35.1%) and combined TIPS-IVC stenting in two (5.4%). Complications encountered in follow-up: death in five, re-stenosis of the stent in five (17.1%), hepatic encephalopathy in two and hepatocellular carcinoma in one patient. Of nine patients treated medically, two showed complete resolution of HVT.CONCLUSION: In our series, HVT was the predominant cause of BCS. In the last five years with the availability of sophisticated tests for hypercoagulability, etiologies were defined in 85.7% of cases. Non-surgical management was successful in most cases.

  14. Air Embolism after Endoscopic Retrograde Cholangiopancreatography in a Patient with Budd Chiari Syndrome

    Science.gov (United States)

    Wills-Sanin, Beatriz; Cárdenas, Yenny R.; Polanco, Lucas; Rivero, Oscar; Suarez, Sebastian; Buitrago, Andrés F.

    2014-01-01

    Endoscopic retrograde cholangiopancreatography is a procedure commonly used for the diagnosis and treatment of various pancreatic and biliary diseases. Air embolism is a rare complication, which may be associated with this procedure. This condition can be manifested as cardiopulmonary instability and/or neurological symptoms. Known risk factors include: sphincterotomy; application of air with high intramural pressure; anatomic abnormalities; and chronic hepatobiliary inflammation. It is important for the health-care staff, including anesthesiologists, interventional gastroenterologists, and critical care specialists, amongst others, to promptly recognize air embolism and to initiate therapy in a timely fashion, thus preventing potentially fatal outcomes. We submit a brief review of the literature and a case report of air embolism which occurred in the immediate postoperative stage of an endoscopic retrograde cholangiopancreatography, performed in a woman with a history of liver transplantation due to Budd Chiari syndrome and biliary stricture. PMID:25478242

  15. Budd-Chiari syndrome: A case with a combination of hepatic vein and superior vena cava occlusion

    Institute of Scientific and Technical Information of China (English)

    Yoshio Araki; Chikara Sakaguchi; Izumi Ishizuka; Masaya Sasaki; Tomoyuki Tsujikawa; Shigeki Koyama; Akira Furukawa; Yoshihide Fujiyama

    2005-01-01

    We here report a recent, rare case of Budd-Chiari syndrome, associated with a combination of hepatic vein and superior vena cava occlusion. A young female, who had been ingood health, was admitted to our hospital because of massive ascites. The patient had used no oral contraceptives. Tests for coagulation disorders, hematological disorders, and antiphospholipid syndrome were all negative. BuddChiari syndrome was diagnosed by radiographic examination. The patient was suffering from a combination of hepatic vein and superior vena cava occlusion. In particular, the venous flow returned from the liver mainly through a right accessory hepatic vein, and stenosis was recognized at the orifice of this collateral vein into the vena cava.Subsequently, the patient underwent percutaneous balloon dilatation therapy for this stenosis. After this treatment, the massive ascites was gradually reduced, and she was discharged from our hospital. It has now been one year since discharge, and the patient has been doing well. If deteriorating liver function or intractable ascites occur again, a liver transplantation may be anticipated. This is the first case report of Budd-Chiari syndrome associated with a superior vena cava occlusion.

  16. Preliminary evaluation of magnetic resonance fresh blood imaging for diagnosis of Budd-Chiari syndrome

    Institute of Scientific and Technical Information of China (English)

    REN Ke; XU Ke; SUN Wen-ge; CHEN Yu-shuai; QI Xi-xun; LI Ran-liang; JIN An-yu

    2007-01-01

    Background Budd-Chiari syndrome (BCS) is a rare disease with portal hypertension caused by the blockage of the hepatic vein and/or the inferior vena cava (IVC). Angiography is the "golden standard" for diagnosis, but it is an invasive examination. To assess the diagnostic value of a fresh blood imaging (FBI) relative to BCS, we used a magnetic resonance angiography (MRA) with an FBI sequence for a preoperative evaluation of the BCS patients in this study. Methods Fifty patients who were suspected of having BCS after they had been checked by a B-ultrasound were studied. 2D and 3D FBI were performed on a 1.5T superconductive MR scanner. Original images were rebuilt using a maximal intensity projection (MIP) method on the console. Two doctors reviewed all images before they learned of the angiography results. We then compared the diagnoses obtained from the FBI and angiography results to evaluate the diagnostic value of the FBI.Results Forty-one patients were diagnosed as BCS and 9 as non-BCS based on an angiography. The FBI correctly diagnosed 38 patients, incorrectly diagnosed 1 patient, and missed diagnosis in 3 patients. Thus, the diagnostic sensitivity of the FBI is 93% (38/41), the specificity is 89% (8/9) and the accuracy is 92% (46/50). The FBI images of the 13 membranous stenoses of the IVC showed a sudden stenosis of the post-liver segment of the IVC. The Images of the 5 patients with a membranous obstruction of the IVC showed IVC thickening and an absence of blood signals in the post-hepatic segment of the IVC. The images of the 4 patients with the segmental thrombosis of the IVC showed abnormal and intermittent signals in the IVC. The images of the 6 patients with a simple hepatic vein obstruction showed obstructive hepatic veins. The images of the 6 patients with the stenosis of both the IVC and the hepatic veins showed the stenosis of the IVC, the thickening of the hepatic veins and the formation of a compensatory circulation within the liver. Lastly

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

    Directory of Open Access Journals (Sweden)

    Évora Paulo RB

    2011-02-01

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

  18. 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.

  19. Budd-Chiari syndrome and sterility%布-加综合征与不孕

    Institute of Scientific and Technical Information of China (English)

    李林; 党晓卫

    2014-01-01

    Due to such factors as changes of hormone levels, disturbance of vena cava blood reflux and prevalent hypercoagulation in pregnant women, female with Budd-Chiari syndrome are prone to be sterile or have repeated habitual abortion. Through a rational and prompt treatment, including radical surgery, transjugular intrahepatic portosystemic stent shunt and intervention therapy, some women can rectify paramenia and increase the possibility of being pregnant.%育龄期女性布-加综合征患者由于激素水平的改变、下腔静脉血液回流受阻及普遍存在的血液高凝状态,可发生不孕及反复流产,妊娠风险较大。经过合理、及早的正确治疗,包括根治术、转流术、介入治疗等可以纠正部分患者的月经紊乱,提高受孕及生育率,部分患者可成功妊娠和生育。

  20. 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.

  1. 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.

  2. Clinical significance of multislice spiral CT scans in hepatic veins occlusion in Budd-Chiari syndrome

    Institute of Scientific and Technical Information of China (English)

    MENG Xiao-chun; ZHU Kang-shun; QIN Jie; ZHANG Jian-sheng; WANG Xiao-hong; ZOU Yan; ZHANG Ya-qin; SHAN Hong

    2007-01-01

    Background Budd-Chiari syndrome with hepatic vein occlusion (HVBCS) can induce severe portal hypertension and liver damage. We retrospectively analyzed hepatic CT features of HVBCS and evaluated the usefulness of triphasic enhancement of CT examinations and CT angiography (CTA) in its diagnosis.Methods Twenty-five cases with HVBCS, confirmed by digital subtraction angiography (DSA), received a triphasic enhancement CT scan within one week before DSA. The CTA images of the relevant blood vessels were reconstructed with maximum intensity projection, volume rendering and oblique reformat techniques.Results Compared with DSA, the detection rate of transverse CT and CTA images for abnormal hepatic vein were 81.7% (58/71) and 95.8% (68/71) (χ2=7.044, P=0.008), for membranous obstruction were 47.4% (9/19) and 84.2% (16/19) respectively (χ2 =5.729, P=0.017 ), for segmental obstruction were 88.0% (22/25) and 100% (25/25) respectively (χ2=1.418, P=0.234). The detection rates for hepatic vein stenosis were 100% with each method. Diffuse hepatomegaly was found in all 6 cases in acute phase and 3 of 19 cases in chronic phase who had severe obstruction of three hepatic veins without patent intrahepatic collaterals. The other 16 cases in chronic phase had hepatatrophia to different extents related to the obstructed hepatic vein. All in acute phase and 15 in chronic phase presented typical patchy enhancement initially in caudate lobe and perihilar areas and enlarged with time delay. In all cases, parenchyma areas with atrophy, necrosis and congestion demonstrated lower and later enhancement. In all the parts, which had normal enhancement at least one patent outflow hepatic vein, accessory hepatic vein or collateral vessel was detected. Conclusion Dynamic enhancement CT examination by multislice spiral CT not only could improve the diagnosis of HVBCS by CTA technique, but also could noninvasively provide anatomical information and reveal damage to the hepatic parenchyma.

  3. 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.

  4. The value of three-dimensional DSA in diagnosis and interventional treatment of Budd-Chiari syndrome caused by the obstruction of the inferior vena cava%三维DSA在腔静脉闭塞型布加综合征诊断和介入治疗中的价值

    Institute of Scientific and Technical Information of China (English)

    张庆桥; 陈雪荣; 闵继忠; 祖茂衡; 徐浩; 顾玉明; 李国均; 魏宁; 许伟; 刘洪涛; 崔艳峰

    2008-01-01

    目的 评价三维DSA(3D DSA)在腔静脉闭塞型布加综合征诊断和介入治疗中的价值.方法21例下腔静脉(IVC)闭塞情况复杂的布加综合征患者经二维DSA(2D DSA)后前位检查确诊后,加做3D DSA检查.由2名介入放射专业主任医师采用双盲法分别阅读2D DSA和3D DSA图像以评价IVC解剖结构,并采用x2检验比较两者对血管的显示情况.根据2D和3D DSA检查结果施行IVC球囊扩张术或支架置入术.结果 所有患者3D DSA均能准确显示IVC闭塞端位置、形态、侧支血管开口及其空间位置关系,检出侧支血管起源于闭塞端9例;2D DSA能显示闭塞端位置、形态、侧支血管开口及其空间关系7例,检出侧支血管起源于闭塞端2例,两者比较差异均有统计学意义(x2值分别为12.07和5.14,P<0.05).仿真血管内镜成像显示IVC内游离血栓3例、附壁血栓1例.全部患者均治疗成功,1例并发IVC破裂出血,无其他并发症.结论3D DSA在IVC闭塞的诊断中能提供有价值信息,对腔静脉闭塞型布加综合征介入治疗有指导意义.%Objective To investigate the value of three-dimensional digital subtraction angiography (3D-DSA)in the diagnosis and interventional treatment of Budd-Chiari syndrome caused by the obstruction of inferior vena cava(IVC).Methods Twenty-one patients with complex Budd-Chiari syndrome caused by the obstruction of IVC underwent 3D-DSA after two-dimensional-DSA(2D-DSA)was performed with posterior-anterior view.The images of 2D-DSA and 3D-DSA were independently reviewed by two senior interventional radiologists iu a double-blinded way.Percutaneous transluminal angioplasty or stent placement of IVC were performed according to the results of 2D-DSA and 3D-DSA.Results Different aspects of the IVC in all patients were demonstrated on the 3D-DSA images,including the mowhology and the location of obstructions,the origins of collateral vessels and their relationships to the IVC.Collateral vessels

  5. Japanese case of Budd-Chiari syndrome due to hepatic vein thrombosis successfully treated with liver transplantation.

    Science.gov (United States)

    Iwasaki, Tomohiro; Kawai, Hirokazu; Oseki, Koushi; Togashi, Tadayuki; Shioji, Kazuhiko; Yamamoto, Satoshi; Sato, Yoshinobu; Suzuki, Kenji; Toba, Ken; Nomoto, Minoru; Hatakeyama, Katsuyoshi; Aoyagi, Yutaka

    2012-02-01

    A 22-year-old Japanese woman was found to have severe esophageal varices and then suffered from hepatic encephalopathy. She was diagnosed with Budd-Chiari syndrome (BCS) due to hepatic vein (HV) thrombosis accompanied by portal vein thrombosis without inferior vena cava (IVC) obstruction. Latent myeloproliferative neoplasm (MPN) lacking the JAK2-V617F mutation was considered to be the underlying disease. Liver transplantation was strikingly effective for treating the clinical symptoms attributable to portal hypertension. Although thrombosis of the internal jugular vein occurred due to thrombocythemia, which manifested after transplantation despite anticoagulation therapy with warfarin, the thrombus immediately disappeared with the addition of aspirin. Neither thrombosis nor BCS has recurred in more than 4 years since the amelioration of the last thrombotic event, and post-transplant immunosuppression with tacrolimus has not accelerated the progression of MPN. In Japan, IVC obstruction, which was a predominant type of BCS, is suggested to have decreased in incidence with recent improvements in hygiene. The precise diagnosis of BCS and causative underlying diseases should be made with attention to the current trend of the disease spectrum, which fluctuates with environmental sanitation levels. Because the stepwise strategy, including liver transplantation, has been proven effective for patients with pure HV obstruction in Western countries, this strategy should also be validated for utilization in Japan and in developing countries where HV obstruction potentially predominates.

  6. Large regenerative nodules in a patient with Budd-Chiari syndrome after TIPS positioning while on the liver transplantation list diagnosed by Gd-EOB-DTPA MRI

    Institute of Scientific and Technical Information of China (English)

    Matteo Renzulli; Vincenzo Lucidi; Cristina Mosconi; Chiara Quarneti; Emanuela Giampalma; Rita Golfieri

    2011-01-01

    BACKGROUND: Large regenerative nodules (LRNs) are hyperplastic benign nodules most commonly associated with Budd-Chiari syndrome (BCS), caused by outflow obstruction of the hepatic veins or vena cava. To our knowledge, no cases of LRNs arising in BCS after transjugular intrahepatic portosystemic shunt (TIPS) positioning and detected by Gd-EOB-DTPA MRI have been reported in the literature. METHODS: A 58-year-old woman with BCS, on the liver transplantation (LT) list, underwent a follow-up enhanced MRI. Two years earlier, a TIPS had been placed. In 2008, recurrent hepaticoencephalopathy resistant to medical treatment fulfilled the LT criteria for BCS treated with TIPS and the patient was therefore added to the LT list. CT performed before TIPS had not detected any hepatic lesions. CT performed six months after TIPS showed its complete patency but documented two indeterminate hypervascular liver lesions. RESULTS: MRI performed with Gd-EOB-DTPA revealed additional hypervascular lesions with uptake and retention of the medium in the hepatobiliary phase, thus reflecting a benign behavior of hepatocellular composition. These MRI features were related to LRNs as confirmed by histopathologic analysis. CONCLUSIONS: Gd-EOB-DTPA-enhanced MRI is potentially superior to standard imaging using gadolinium chelates or spiral CT, especially for the differential diagnosis of hypervascular lesions. Gd-EOB-DTPA MRI may become the imaging method of choice for evaluating LT list patients with BCS after TIPS placement.

  7. Budd-Chiari syndrome secondary to inflammatory pseudotumor of the liver: report of a case with a 10-year follow-up

    Directory of Open Access Journals (Sweden)

    Patricia Ramírez-de-la-Piscina

    2013-06-01

    Full Text Available Inflammatory pseudotumor (IPT of the liver is a rare benign tumor of unknown origin, it has the appearance of a malignant tumor but has a benign histology and clinical course. We report a case of a 63-year-old man diagnosed of IPT of the liver and followed for 10 years. During the clinical course, he developed a secondary Budd-Chiari syndrome, with a successful response to a transjugular intrahepatic portosystemic shunt over a 5-year follow-up period.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2010-03-15

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

  9. 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)

    H.L.A. Janssen (Harry); J.P. Vandenbroucke; F.R. Rosendaal (Frits); B. van Hoek (Bart); J.R. Meinardi; F.P. Vleggaar (Frank); S.H. van Uum; E.B. Haagsma (Els); F.J.M. van der Meer; J. van Hattum (Jan); R.A. Chamuleau; R.P.R. Adang (Rob)

    2000-01-01

    textabstractIn 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 thrombosi

  10. Myelopathy-mimicking symptoms of epidural venous engorgement and syringomyelia due to inferior vena cava stenosis at the thoracolumbar junction in a patient with Budd-Chiari syndrome.

    Science.gov (United States)

    Lee, Jung-Hee; Song, Wook-Jae; Kang, Kyung-Chung

    2015-10-01

    Epidural venous engorgement can result from various lesions, such as arteriovenous malformation, thrombosis or occlusion of the inferior vena cava (IVC), or an abdominal masslike lesion. Most patients with these problems complain of low-back pain, radicular pain, or neurogenic claudication, which are symptoms suggestive of disc herniation or spinal stenosis. However, these patients rarely exhibit neurological deficits or cauda equina syndrome. The authors encountered a case of a 60-year-old man presenting with lower-extremity weakness and voiding difficulty for a period of 1 year. To investigate the patient's myelopathy-mimicking symptoms, a lumbar spine MRI scan was performed. The MR images exhibited tortuous and dilated spinal vessels compressing the spinal cord and thecal sac at the T11-L3 level, which were concurrent with syringomyelia evidenced by a 22 × 2.5-mm cyst at the T11-12 level. 3D CT scanning of the whole aorta revealed total occlusion and regression of the IVC in the intrahepatic region 3 cm inferior to the right atrium and dilation of multiple collateral veins. The patient was diagnosed with chronic Budd-Chiari syndrome Type I. The authors performed venography, followed by intrahepatic IVC recanalization via stent placement under fluoroscopic and ultra sonographic guidance and without surgical exploration. After this treatment, there was a marked decrease in epidural venous engorgement and the patient's symptoms resolved almost completely. This case indicates that epidural venous engorgement at thoracolumbar levels may cause symptoms suggestive of myelopathy and can be successfully treated by minimally invasive procedures to eliminate the underlying causes.

  11. Radical surgery for Budd-Chiari syndrome through exposure of the entire inferior vena cava of the hepatic segment

    Institute of Scientific and Technical Information of China (English)

    ZHANG Xiao-ming; LI Qing-Le

    2007-01-01

    Background Several kinds of radical surgery for the treatment of Budd-Chiari syndrome (BCS) have been devised. We have described preliminary efforts to treat BCS using a novel radical resection technique to expose the entire inferior vena cava (IVC) of the hepatic segment.Methods Sixty patients with BCS were treated by radical resection, including 46 men and 14 women. BCS patients ranged in age from 11 to 62 years, with 3 months to 11 years since the BCS diagnosis. The lesions included membrane occlusion of the IVC in 16 patients, double membranes within the IVC in 2 patients, double membranes within the IVC and the hepatic vein (HV) in 3 patients, IVC membrane with distal thrombosis in 10 patients, long segment thrombosis of the IVC in 5 patients (organized thrombosis in 2 patients, fresh thrombosis in 3 patients), occlusion of the outlet of the HVs due to mural thrombosis in 2 patients, segmental occlusion of the IVC in 3 patients, membranes within the HV with IVC stenosis due to protrusion of HV stent in 1 patient, HV membranes in 11 patients, extensive occlusion of HVs in 1 patient, the whole IVC tumor thrombus with tumor thrombus of 2/3 right atrium resulting from a posterior peritoneum tumor in 1 patient, IVC leiomyosarcoma in 2 patients, IVC leiomyosarcoma with tumor thrombus into 1/2 right atrium in 1 patient, IVC thrombosis extending into right atrium in 1 patient, compression of supra-hepatic segment of IVC due to fiber trabs in 1 patient.Results All lesions were successfully resected under direct supervision. Three procedures were performed under extracorporeal circulation, 52 patients with catheterization of the right atrium, 4 patients with a cell saver, and one patient with auto-retrieval of blood. The retrieved blood was from 300 ml to 4000 ml. Transfusion of banked blood was from 400 ml to 2000 ml for 14 patients. For the other patients no transfusion of banked blood was required. One patient died of renal failure peri-operatively. Newly formed IVC

  12. 肝移植治疗布加综合征九例%Treating Budd-Chiari syndrome with liver transplantation: report of 9 cases

    Institute of Scientific and Technical Information of China (English)

    史瑞; 郑虹; 孙丽莹; 潘澄; 邓永林; 朱志军; 沈中阳

    2012-01-01

    目的 总结原位肝移植术治疗布加综合征的经验和体会.方法 回顾性分析2003年12月至2010年4月9例布加综合征患者接受肝移植治疗的临床资料,总结术前影像学评估和手术经验,并观察术后并发症的发生情况及受者存活情况.结果 术前9例患者均经腹部CT强化扫描及血管重建等检查明确诊断,并行腔静脉造影明确梗阻情况及分型.9例患者中,接受尸体供肝移植者8例,均采用经典非转流术式;接受亲属活体右半供肝移植1例.术后免疫抑制方案为他克莫司+吗替麦考酚酯+皮质激素.9例受者术后平均随访时间为32.8个月(13~61个月),期间出现癫痫发作1例,十二指肠乳头及功能不良1例,小肝综合征1例,以及肺部感染4例;1例接受了中度脂肪肝供肝的受者于术后12d因原发性移植肝无功能行再次肝移植;1例受者于术后6个月因发生胆道并发症导致移植肝功能丧失而行再次肝移植,该例患者术后35个月死于肝脏肿瘤复发.所有患者未发生流出道梗阻及布加综合征复发.9例受者术后1和2年存活率为100%(9/9),术后3年存活率为88.9%(8/9).结论 通过准确的影像学评估和选择适宜的手术方式,肝移植已成为治疗布加综合征的重要手段,受者预后良好.%Objective To investigate the experience of treating Budd-Chiari syndrome through orthotopic liver transplantation.Methods The clinical data of LTx performed on 9 patients with Budd-Chiari syndrome from December 2003 to April 2010 were retrospectively analyzed. We summarize the preoperative image and surgical experience,and observe the occurrence of postoperative complications and survival. Results Budd-Chiari syndrome was diagnosed in 9 patients by the preoperative abdominal CT enhancement and vascular reconstruction,and cavity venography was done to observe obstruction and sub-type of CAVA vein.All 9 patients were subjected to cadaveric liver transplantation

  13. Epidemiological aspects of Budd-Chiari in Egyptian patients: A single-center study

    Institute of Scientific and Technical Information of China (English)

    Mohammad Sakr; Eman Barakat; Sara Abdelhakam; Hany Dabbous; Said Yousuf; Mohamed Shaker; Ahmed Eldorry

    2011-01-01

    AIM: To describe the socio-demographic features, eti ology, and risk factors for Budd-Chiari syndrome (BCS) in Egyptian patients.METHODS: Ninety-four Egyptian patients with con firmed primary Budd-Chiari syndrome were presented to the Budd-Chiari Study Group (BCSG) and admitted to the Tropical Medicine Department of Ain Shams University Hospital (Cairo, Egypt). Complete clinical evaluation and laboratory investigations, including a thrombophilia workup and full radiological assessment, were per formed to determine underlying disease etiologies.RESULTS: BCS was chronic in 79.8% of patients, acute or subacute in 19.1%, and fulminant in 1.1%. Factor V Leiden mutation (FVLM) was the most com mon etiological cause of disease (53.1%), followed by mutation of the gene encoding methylene tetra hydrofolate reductase (MTHFR) (51.6%). Current or recent hormonal treatment was documented in 15.5% of females, and BCS associated with pregnancy was present in 17.2% of females. Etiology could not be de termined in 8.5% of patients. Males had significantly higher rates of MTHFR gene mutation and Behget' s disease, and females had significantly higher rates of secondary antiphospholipid antibody syndrome. A highly significant positive relationship was evident between the presence of Behget's disease and inferior vena caval occlusion, either alone or combined with occlusion of the hepatic veins (P < 0.0001).CONCLUSION: FVLM is the most common disease etiology and MTHFR the second most common in Egyptian BCS patients. BCS etiology tends to vary with geographic region.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2012-11-15

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

  15. Combined Liver and Kidney Transplant in a Patient with Budd-Chiari Syndrome Secondary to Autosomal Dominant Polycystic Kidney Disease Associated with Polycystic Liver Disease: Report of a Case with a 9-Year Follow-Up

    Science.gov (United States)

    Ramírez de la Piscina, Patricia; Duca, Ileana; Estrada, Silvia; Calderón, Rosario; Ganchegui, Idoia; Campos, Amaia; Spicakova, Katerina; Salvador, Marta; Delgado, Elvira; Bengoa, Raquel; García-Campos, Francisco

    2014-01-01

    Polycystic liver disease (PLD) is a hereditary disease inherited by autosomal dominant trait that occurs as a frequent extrarenal manifestation of autosomal dominant polycystic kidney disease (ADPKD). We report a case of a 59-year-old woman diagnosed with ADPKD associated with PLD. End-stage chronic renal failure with a secondary Budd-Chiari syndrome developed during the patient's clinical course. She underwent combined liver and kidney transplantation, with a successful response over a 9-year follow-up period. PMID:24987537

  16. Hepatocellular carcinoma in Budd-Chiari syndrome: A single center experience with long-term follow-up in South Korea

    Institute of Scientific and Technical Information of China (English)

    Hana Park; Jin Young Yoon; Kyeong Hye Park; Do Young Kim; Sang Hoon Ahn; Kwang-Hyub Han; Chae Yoon Chon; Jun Yong Park

    2012-01-01

    AIM:To evaluate long-term clinical course of BuddChiari syndrome (BCS) and predictive factors associated with the development of hepatocellular carcinoma (HCC)and survival.METHODS:We analyzed 67 patients with BCS between June 1988 and May 2008.The diagnosis of BCS was confirmed by hepatic venous outflow obstruction shown on abdominal ultrasound sonography,computed tomography,magnetic resonance imaging,or venography.The median follow-up period was 103 ± 156 [interquartile range (IQR)] mo.RESULTS:The median age of the patients was 47 ±16 (IQR) years.At diagnosis,54 patients had cirrhosis,25 (37.3%) Child-Pugh class A,23 (34.3%) Child-Pugh class B,and six (9.0%) patients Child-Pugh class C.During the follow-up period,HCC was developed in 17 patients,and the annual incidence of HCC in patients with BCS was 2.8%.Patients in HCC group (n =17)had higher hepatic venous pressure gradient (HVPG)than those in non-HCC group (n =50) (21 ± 12 mmHg vs 14 ± 7 mmHg,P =0.019).The survival rate of BCS patients was 86.2% for 5 years,73.8% for 10 years,and 61.2% for 15 years.In patients with BCS and HCC,survival was 79% for 5 years,43.1% for 10 years,and 21.5% for 15 years.CONCLUSION:The incidence of HCC in patients with BCS was similar to that in patients with other etiologic cirrhosis in South Korea.The HVPG is expected to provide additional information for predicting HCC development in BCS patients.

  17. Pericardial tamponade complicated by interventional management for Budd-Chiari syndrome: clinical analysis and treatment%Budd-Chiari综合征介入治疗并发心脏压塞的分析和处理

    Institute of Scientific and Technical Information of China (English)

    张璐西; 祖茂衡; 吴金平; 徐浩; 焦旭东; 陈正侃

    2011-01-01

    目的 探讨Budd-Chiari综合征(BCS)介入治疗并发心脏压塞的原因和处理方法.方法 回顾性分析1990 - 2006年812例行BCS介入治疗中并发心脏压塞的9例患者的造影结果、临床症状、发生原因、处理方法和转归.结果 9例发生心脏压塞患者中,8例成功救治,1例死亡.其中下腔静脉阻塞型7例,肝静脉阻塞型1例,混合型1例.单纯误穿心包5例,误穿加球囊撕裂心包3例,支架移位进入右心房损伤心包1例.行传统心包穿刺抽液1例,外科手术处理3例,行剑突下Seldinger技术置管引流2例,观察、保守处理1例,经误入导管抽液1例,经误入导管抽液加剑突下Seldinger技术置管引流1例.结论 心脏压塞是BCS介入治疗中少见且严重的并发症,术前预防、及时发现、合理处理是避免严重后果的关键.%Objective To discuss the causes and treatment of pericardial lamponade (PT) occurredin me interventional management for Budd-Chiari syndrome (. BCS I Methods [luring the period from 1990 to 2006. Intervention] treatment was performed in 812 patients with ISCS. Pericardia] tamponade occurred in nine patients during the period of interventional treatment. The clinical daia, 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 pericardioceutesis was employed in one case, surgery was carried

  18. Long-term Outcome and Analysis of Dysfunction of Transjugular Intrahepatic Portosystemic Shunt Placement in Chronic Primary Budd-Chiari Syndrome.

    Science.gov (United States)

    Hayek, Georges; Ronot, Maxime; Plessier, Aurélie; Sibert, Annie; Abdel-Rehim, Mohamed; Zappa, Magaly; Rautou, Pierre-Emmanuel; Valla, Dominique; Vilgrain, Valérie

    2016-10-31

    Purpose To evaluate the long-term safety, technical success, and efficacy of transjugular intrahepatic portosystemic shunt (TIPS) in a series of patients with Budd-Chiari syndrome (BCS), and to determine the predictors of shunt dysfunction. Materials and Methods From 2004 to 2013, all patients with primary BCS referred for TIPS placement were included in the study. The primary and secondary technical success rates and the number and types of early (ie, before day 7) complications were noted. Factors associated with dysfunction were analyzed with uni- and multivariate analyses. Survival was analyzed with Kaplan-Meier curves. Results Fifty-four patients (34 women [63%]; mean age, 36 years ± 12 [standard deviation]) were included. Twenty-eight patients (52%) had myeloproliferative neoplasms. The mean Model for End-Stage Liver Disease score was 14.5 ± 4. The most frequent indication for TIPS was refractory ascites (50 of 54; 93%). Primary and secondary technical success rates were 93% and 98%, respectively. Early complications occurred in 17 patients (32%). After a mean follow-up of 56 months ± 41 (interquartile range, 22-92), 22 patients (42%) experienced at least one episode of TIPS dysfunction (median delay between administration of TIPS and first episode of dysfunction, 10.8 months). Cumulative 1-, 2-, 3-, 5-, and 10-year primary patency rates were 64%, 59%, 54%, 45%, and 45%, respectively. Dysfunction was associated with a myeloproliferative neoplasm (hazard ratio, 8.18; 95% confidence interval: 1.45, 46.18; P = .017), more than two initial stents (hazard ratio, 3.90; 95% confidence interval:1.16, 13.10; P = .027), and the occurrence of early complications (hazard ratio, 11.34; 95% confidence interval: 1.82, 70.69; P = .009). The 10-year survival rate was 76%. Conclusion TIPS placement in patients with chronic primary BCS was associated with a nonnegligible rate of early complications and required endovascular revision or revisions in 42% of patients

  19. 布卡综合征和多发性大动脉炎纤维蛋白原的对照研究%Study on Fibrinogen Related Budd- Chiari Syndrome and Takayasus Arteritis

    Institute of Scientific and Technical Information of China (English)

    韩新巍; 陈呈世; 段广才

    2007-01-01

    目的 通过对布卡综合征(Budd-Chiari Syndrome,BCS)患者和多发性大动脉炎(Takayasus Artritis,TA)患者纤维蛋白原(Fibrinogen,Fib)含量的分析,以了解我国BCS与炎症间的关系.方法 对34例BCS患者和16例TA患者化验Fib含量.结果 BCS患者的Fib含量和TA患者Fib含量的平均值分别为2.72和4.80,t值为-4.517,P值为0.0003,有统计学意义.结论 我国BCS的主要病因可能不是炎症.

  20. Diagnosis and therapy of 38 Budd-Chiari syndrome due to membrance obstruction of the hepatic veins%38例肝静脉膜型布加综合征诊治分析

    Institute of Scientific and Technical Information of China (English)

    孙振阳; 芮清峰; 刘允乐

    2013-01-01

    目的 探讨肝静脉膜型布加综合征(Budd-Chiari syndrome,BCS)的诊治方法.方法 38例患者均经彩超检查,疑为BCS患者行肝静脉、下腔静脉造影明确诊断后行经皮腔内血管成形(percutaneous intraluminal angioplasty,PTA)术或/和支架置入术.结论 38例患者中16例球囊扩张成功,19例支架置入,失败3例,无1例发生严重并发症.结论经皮腔内血管成形术、支架置入术是治疗肝静脉膜型 BCS的一种操作简单、安全有效的方法.%Objective To explore diagnosis and therapy of Budd -Chiari syndrome due to membrance obstruction of the hepatic veins . Methods All of the 38 patients were detected by colour doppler flow imaging , hepatic and inferior vena cava venography. Then percutaneous in-traluminal angioplasty or intravascular stent insertion was undergone . Results 16 patients underwent therapy of percutaneous intraluminal angioplasty ,and 19 patients underwent therapy of intravascular stent insertion successfully and 3 failed. Conclusion Percutaneous intraluminal angioplasty and intravascular stent insertion are safe and effective for BCS due to membrance obstruction of the hepatic veins .

  1. 布-加综合征继发腹腔间隔室综合征的处理%Management of Budd-Chiari syndrome complicated with abdominal compartment syndrome

    Institute of Scientific and Technical Information of China (English)

    卢秀波; 马秀现; 许培钦; 许雅娟

    2001-01-01

    Objective To study the mechanism and management of abdominal compartment syndrome (ACS) in patients with Budd Chiari Syndrome (BCS).Methods 42 patients with BCS complicated with ACS were diagnosed by venography and intraabdominal pressure measurement. All patients were treated with ascities dialysis and influsion before operation. Portosystemic shunt was performed on 36 patients, and interventional procedures were conducted to recanalize the occluded main hepatic vein(MHV) on 6 patients. Results In this series, 2 patients died postoperatively and 2 patients had no good results in long term follow-up; the clinical features disappeared or markedly alleviated in the others. Conclusions MHV occlusion is the primary pathologic change of BCS complicated with ACS. Portosystemic shunt operation or MHV recanalization by interventional therapy can relieve the symptoms of BCS with ACS.%目的探讨布-加综合征(BCS)病人并发腹腔间隔室综合征(ACS)的发病机制和处理。方法 42例病人经静脉造影和腹内压测定确诊为BCS并有ACS。所有病人术前行腹水透析和回输,而后行各种门体分流术(36例)或介入主肝静脉再通术(6例)。结果除2例死亡、2例病人远期疗效稍差外,其余38例BCS并ACS的临床症状消失或明显减轻。结论主肝静脉阻塞是BCS并ACS的主要病理学改变;门体分流术或经介入方法使主肝静脉再通可消除BCS并ACS的症状。

  2. 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.

  3. Morphological features of pathological membrane of inferior vena cava associated with Budd-Chiari syndrome%布-加综合征下腔静脉病变隔膜形态学特征研究

    Institute of Scientific and Technical Information of China (English)

    乔师师; 党晓卫; 徐大千; 吴阳; 李捷; 张红新; 陈奎生; 许培钦; 张水军

    2012-01-01

    目的 观察分析布-加综合征下腔静脉(IVC)病变隔膜的形态学特征,探讨病变隔膜的形成机制.方法 大体观察2007年10 月至2010年l2月根治性切除手术切除的10例布-加综合征下控静脉病变隔膜形态特征,并利用光镜、电镜对比观察病变隔膜与 7例正常肝后段下腔静脉壁的组织结构差异.结果 术中见病变隔膜位于下腔静脉入右心房2.0 cm范围内.隔膜边缘较厚,中央偏薄,表面与IVC内膜相连.9例隔膜下方IVC有附壁血栓,5例病变隔膜局部有钙化.光镜下病变隔膜组织由粗大的均质胶原纤维及成纤维细胞构成,胶原排列紊乱,部分胶原纤维呈透明变性.隔膜边缘为不等程度的纤维结缔组织增生,少量肉芽组织和新生血管等病理改变;正常下腔静脉壁内膜、中膜和外膜3层结构完整.电镜下病变隔膜组织中可见较多的纤维细胞,表面有少量内皮细胞.内皮细胞内线粒体大部分嵴和膜脱落融合、模糊不清或缺失,粗面内质网轻度扩张.偶见凋亡细胞,但体积缩小;正常下腔静脉壁大内皮细胞排列规则,呈条带状分布,内皮细胞内可见线粒体、粗面内质网及吞饮小泡,内皮细胞下为少量排列较稀疏的胶原纤维及弹性纤维.结论 布-加综合征下腔静脉病变隔膜形成以纤维细胞增生为主,肝后段下腔静脉的损伤和炎症反应可能参与了隔膜的形成过程.%Objective To investigate the morphological features of a diseased inferior vena cava (IVC) diaphragm associated with Budd-Chiari syndrome,and to explore the pathogenic mechanisms.Methods Ten patients with a diseased IVC diaphragm associated with Budd-Chiari syndrome underwent radical resection in our hospital frome October 2007 to December 2010.We assessed the gross morphological features of these diaphragms.The structure of the diseased diaphragms was compared with that of the IVC retrohepatic segment using light and electron

  4. Outcome of non surgical hepatic decompression procedures in Egyptian patients with Budd-Chiari

    Institute of Scientific and Technical Information of China (English)

    Ahmed Eldorry; Eman Barakat; Heba Abdella; Sara Abdelhakam; Mohamed Shaker; Amr Hamed; Mohammad Sakr

    2011-01-01

    AIM:To evaluate outcome of patients with Budd- Chiari syndrome after balloon angioplasty ± stenting or transjugular intrahepatic portosystemic shunt (TIPS).METHODS:Twenty five patients with Budd-Chiari syndrome admitted to Ain Shams University Hospitals,Tropical Medicine Department were included.Twelve patients (48%) with short segment occlusion were candidates for angioplasty;with stenting in ten cases and without stenting in two.Thirteen patients (52%) had Transjugular Intrahepatic Portosystemic Shunt.Patients were followed up for 12-32 mo.RESULTS:Patency rate in patients who underwent angioplasty ± stenting was 83.3% at one year and at end of follow up.The need of revision was 41.6% with one year survival of 100%,dropped to 91.6% at end of follow up.In patients who had Transjugular Intrahepatic Portosystemic Shunt,patency rate was 92.3% at one year,dropped to 84.6% at end of follow up.The need of revision was 38.4% with one year and end of follow up survival of 100%.Patients with patent shunts showed marked improvement compared to those with occluded shunts.CONCLUSION:Morbidity and mortality following angioplasty ± stenting and TIPS are low with satisfactory outcome.Proper patient selection and management of shunt dysfunction are crucial in improvement.

  5. 3.0T磁共振对肝静脉型布-加氏综合征的诊断价值%The diagnostic value of 3.0 T magnetic resonance angiography on Budd-Chiari syndrome

    Institute of Scientific and Technical Information of China (English)

    刘国平; 徐浩

    2011-01-01

    Objective: To study the value of 3. 0 T MR imaging in diagnosing on Budd-Chiari syndrome with hepatic vein occlusion ( HVBCS). Metbods : 3. 0 T SE sequence T1 WI , T2 WI and three-dimensional contrast-enhanced magnetice angiography were performed on 57 patients with HVBCS. Observe the condition of occlusion of HV, the presence of intrahepatic collaterals and liver parenchymal abnormalities. All the vein of the 57 patients were certified hy DSA. Analyze the image of MRI. Results: A total of 126 hepatic veins were presented . Inelud 21 hepatic veins extensively occluded, 93 hepatic veins occluded at outlet, 6 hepatic veins of above with thrombosis in it,12 hepatic veins is normal. The sensitivity and the specificity of MRI to present HV were 91. 3% and 100% respectively, 38 assessory hepatic veins were presented, and 17 assessory hepatic veins stenosis at outlet, 53 cases presented intrahepatic collaterals, and 4 cases without it. All the cases presented liver parenchymal abnormalities. Conclusion : 3. 0 T MRI can accurately present the occlusion of HV, intrahepatic collaterals and liver parenchymal abnormalities, and have significant value in diagnosis of HVBCS.%目的:探讨3.0T磁共振对肝静脉型布-加氏综合征(HVBCS)的诊断价值.方法:57例HVBCS患者均行3.0T磁共振平扫及三维对比增强MR血管成像(3DCE MRA)检查,观察肝静脉(HV)改变、侧枝循环的建立及肝实质改变情况.全部患者均行HV造影证实,分析磁共振结果.结果:HV:共显示126支,其中HV广泛阻塞21支;开口阻塞93支;以上HV阻塞病例中有血栓形成6支;正常HV12支.以血管造影为金标准,磁共振显示HV灵敏度为91.3%,特异度为100%.副肝静脉(AHV):显示38支,其中17支开口狭窄.侧枝循环:肝内侧枝循环形成53例,4例无肝内侧枝循环;全部病例均有肝实质改变.结论:3.0T磁共振能准确显示HV病变,肝内侧枝循环,肝实质改变,在诊断HVBCS中有重要价值.

  6. 导丝贯穿技术在肝静脉型布加综合征介入治疗中的应用%The technique of guide-wire loop in interventional therapy of patients with Budd-Chiari syndrome with hepatic vein obstruction

    Institute of Scientific and Technical Information of China (English)

    朱蕻潮; 徐浩; 祖茂衡; 崔艳峰; 魏宁; 许伟; 张庆桥

    2015-01-01

    目的 探讨导丝贯穿技术在肝静脉型布加综合征(BCS)介入治疗中的应用价值.方法 回顾性分析2011年5月至2014年8月收治的25例肝静脉型BCS患者的临床资料.所有患者均用导丝贯穿法行肝静脉成形术.介入治疗前后测量肝静脉压力,用t检验评价治疗前后肝静脉压力的变化.结果 25例患者均成功用导丝贯穿法行肝静脉成形术.术中无血管破裂出血、心包填塞及肝包膜破裂出血等并发症发生.治疗后肝静脉压力由(48.3±8.0)cmH2O降至(20.9±3.8)cmH2O(t=26.82,P<0.05),治疗前后差异有统计学意义.术后所有患者临床症状、体征均明显缓解或消失.随访期间有4例患者再次出现BCS相关症状.其中2例再次行球囊扩张治疗成功,1例因肝硬化失代偿改用经颈静脉肝内门体分流(TIPS)治疗,另1例因患强直性脊柱炎第三次症状复发行肝静脉开通治疗失败.结论 采用导丝贯穿技术行肝静脉成形术治疗肝静脉型BCS是一种安全、有效的补充治疗方法,能提高肝静脉型BCS的治疗成功率.%Objective To investigate the value of guide-wire loop in interventional therapy of patients with Budd-Chiari syndrome with hepatic vein obstruction.Methods A retrospective study was conducted on 25 patients with Budd-Chiari syndrome (BCS) with hepatic vein obstruction treated from May 2011 to August 2014.The technique of guide-wire loop was used in these patients.The pressure of the hepatic vein was measured before and after treatment.The difference in the pressure was analyzed by the t test.Results All the patients were treated successfully using guide-wire loop angioplasty.No complications of bleeding,pericardial tamponade and liver capsule hemorrhage were observed.After treatment,the pressure of the hepatic vein reduced from (48.3± 8.0) cmH2O to (20.9 ± 3.8) cmH2O (t =26.82,P < 0.05);The symptoms and physical signs of the patients were relieved or disappeared.BCS-related symptoms

  7. The clinical value of endovascular stent in treatment of hepatic vein-type Budd-Chiari syndrome:a Meta analysis%血管内支架治疗肝静脉型布加综合征临床价值的Meta分析

    Institute of Scientific and Technical Information of China (English)

    马强; 余朝文; 任佩; 孙喆

    2016-01-01

    目的:荟萃分析血管内支架在治疗肝静脉型布加综合征中的临床价值。方法采用Newcastle-Ottawa Scale评价方法,通过计算机检索并收集国内外关于肝静脉型布加综合征血管内支架治疗的文献,检索时限为1992年1月—2014年7月,对收集到的资料进行总结,并对血管内支架与单纯性球囊扩张术后再狭窄率、闭塞率进行Meta分析。结果按照检索策略进行系统的检索后,依照纳入标准,最终纳入6篇中文文献,1篇英文文献,共计534例病例。 Meta分析结果显示,对单纯性球囊扩张与血管内支架置入术后再狭窄、闭塞结果进行合并,异质性检验显示有明显的异质性(χ2=15.821, P0.05),血管内支架与单纯性球囊扩张在术后近、中期再狭窄、闭塞率差异均无统计学意义(P值均>0.05)。结论肝静脉型布加综合征采用血管内支架与单纯性球囊扩张术治疗,术后近、中期再狭窄、闭塞率无差异,对于单纯性球囊扩张效果不明显或需多次扩张的患者可考虑行血管内支架置入治疗。%Objective To analyze the clinical significance of endovascular stents in treatment of hepatic vein type Budd-Chiari syndrome. Methods Newcastle-Ottawa Scale assessment method was used by carrying out the computer-based retrieval and collecting the documents about the endovascular stents in treatment of hepatic vein type Budd-Chiari syndrome at home and abroad, the searching time limit was set from January 1992 to July 2014, all of collected data were analyzed and summarized, and the Meta analysis was conducted for the diameter stenosis and blocking rate of postoperative endovascular stents and percutaneous transluminal angioplasty. Results After systematic retrieval based on search strategies, according to inclusion criteria, there were 6 Chinese papers and one English paper included, with a total of 534 patients. The Meta analysis was conducted for the diameter stenosis and blocking rate

  8. Budd-Chiari综合征合并下腔静脉长节段血栓及上消化道出血的介入治疗%The Interventional Treatment on Budd Chiari Syndrome with Long Segmental Inferior Vena Cava Thrombosis and Upper Gastrointestinal Haemorrhage

    Institute of Scientific and Technical Information of China (English)

    牛焕章; 刘保平; 高万勤; 程敬亮; 李云东; 黄可; 杨海; 王超; 徐香梅; 候民聚

    2012-01-01

    Objective To investigate the interventionsl procedure on Budd Chiari syndrome (BCS) with long segmental inferior vena cava thrombosis and upper gastrointestinal haemorrhage, and evaluate the therapeutic value of multiple inferior vena cava stent placement for fixing thrombosis, inferior vena cava angioplasty and hepatic vein angioplasty. Materials and Methods From January 2009 to March 2011, 6 patients who had BCS with long segmental inferior vena cava throm-bosis and upper gastrointestinal haemorrhage received interventional treatment. About 1 week after upper gastrointestinal bleeding was controlled, all patients received multiple inferior vena cava stent placement for fixing thrombosis, inferior vena cava angioplasty and hepatic vein angioplasty. All patients accepted anticoagulant therapy and were followed up after proce-dures. Results The procedures of 6 patients were all successfully done. Recent and midterm clinical efficacies were signifi-cant in 6 patients. The main complication was asymptomatic pulmonary embolism in 2 cases. No mortality case was occurred related to the procedures. Conclusion It is safe and effective that patients of BCS with long segmental inferior vena cava thrombosis and upper gastrointestinal haemorrhage were treated by multiple inferior vena cava stent placement for fixing throm-bosis, inferior vena cava angioplasty and hepatic vein angioplasty.%目的 探讨Budd-Chiari综合征(BCS)合并下腔静脉长节段血栓及上消化道出血的介入治疗方法,评价下腔静脉多支架顺序置入固定血栓+下腔静脉成形术+肝静脉成形术的治疗价值.资料与方法 搜集2009年1月至2011年3月6例BCS合并下腔静脉长节段血栓及上消化道出血患者.上消化道出血控制稳定1周后,均以如下介入方法治疗:下腔静脉多支架顺序置入固定血栓+下腔静脉成形术+必要时肝静脉成形术.术后予以抗凝并随访.结果 6例患者以下腔静脉多支架顺序置入压迫血栓+

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

    Institute of Scientific and Technical Information of China (English)

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

    2007-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Ali Ghavidel

    2015-08-01

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

  11. 门静脉高压症少见成因及其诊断%Portal hypertension: rare causes and their diagnosis

    Institute of Scientific and Technical Information of China (English)

    孙立平; 童巧霞; 揭盛华

    2011-01-01

    Portal hypertension is defined as an increase in blood pressure in the veins of the portal system and extensive formation of portal-systemic communicating branches, which results from a blockage in the portal blood flow or abnormal blood increment. Generally, cirrhotic portal hypertension is common more than non-cirrhotic portal hypertension, but the latter is caused by a group of diseases, such as idiopathic portal hypertension(IPH), pancreatic sinistral portal hypertension (PSPH), cavernous transformation of the portal vein (CTPV), congenital hepatic fibrosis (CHF), Budd-Chiari syndrome (BCS), hepatic sinusoidal obstruction syndrome (SOS), portal vein thrombosis (PVT), myeloproliferative disease (MLD), hepatic amyloidosis, and hemochromatosis (HC). This paper reviews the rare causes of portal hypertension and their diagnosis.%门静脉高压症是指由不同原因引起的门静脉血流受阻或者血流异常增多而导致门静脉系统压力增高和广泛侧支循环形成的临床综合征,最常见于肝硬化.而非硬化性门脉高压常见于特发性门静脉高压(idiopathic portal hypertension,IPH)、胰源性门脉高压(pancreatic sinistral portal hypertension,PSPH)、门静脉海绵样变性(cavernous transformation of the portal vein,CTPV)、先天性肝纤维化(congenital hepatic fibrosis,CHF)、Budd-Chiari综合征(Budd-Chiari syndrome,BCS)、肝窦阻塞综合征(hepatic sinusoidal obstruction syndrome,SOS)、门静脉血栓形成(portal vein thrombosis,PVT)、骨髓增生性疾病(myeloproliferative disease,MLD)、肝淀粉样变(hepatic amyloidosis)、血色病(hemochromatosis,HC)等.本文就这几种门脉高压的少见成因及诊断作一综述.

  12. What Causes Down Syndrome?

    Science.gov (United States)

    ... Information Clinical Trials Resources and Publications What causes Down syndrome? Skip sharing on social media links Share this: ... Down Syndrome Registry​ . Chromosomal Changes That Can Cause Down Syndrome Research shows that three types of chromosomal changes ...

  13. Hepatic venous outflow obstruction: Three similar syndromes

    Institute of Scientific and Technical Information of China (English)

    Ulas Darda Bayraktar; Soley Seren; Yusuf Bayraktar

    2007-01-01

    Our goal is to provide a detailed review of venoocclusive disease (VOD), Budd-Chiari syndrome (BCS),and congestive hepatopathy (CH), all of which results in hepatic venous outflow obstruction. This is the first article in which all three syndromes have been reviewed,enabling the reader to compare the characteristics of these disorders. The histological findings in VOD, BCS,and CH are almost identical: sinusoidal congestion and cell necrosis mostly in perivenular areas of hepatic acini which eventually leads to bridging fibrosis between adjacent central veins. Tender hepatomegaly with jaundice and ascites is common to all three conditions.However, the clinical presentation depends mostly on the extent and rapidity of the outflow obstruction.Although the etiology and treatment are completely different in VOD, BCS, and CH; the similarities in clinical manifestations and liver histology may suggest a common mechanism of hepatic injury and adaptation in response to increased sinusoidal pressure.

  14. Antiphospholipid syndrome:a survey of clinical characters in ten cases

    Institute of Scientific and Technical Information of China (English)

    陈李华; 姜玲玲; 厉有名; 彭清璧

    2003-01-01

    Objective: To gain further understanding of the antiphospholipid syndrome(APS). Methods: Analysing clinical and laboratory data on ten cases of APS. Results: Thrombocytopenia appeared in all cases. Venous thrombi of limbs appeared in five cases and neurological abnormalities in two cases. Renal impairments were found in three cases. One case manifested left renal venous thrombi and the other two cases thrombotic microangiopathy. Budd-Chiari syndrome was found in one case. One of the ten cases was catastrophic APS(CAPS) presented as acute diffuse swelling, cyanosis, pain, ischemia and necrosis in fingers and limbs, recurrent shock, ascites, hepatic and respiratory dysfunction. Anticoagulants and corticosteroids could be effective for dealing with APS. It was critical to treat catastrophic APS with anticoagulants or plasmapheresis as early as possible. Conclusions: APS shows variable manifestations for good prognosis, but catastrophic APS has fatal risk. The main treatment for APS is the use of anticoagulants and immunosuppressives.

  15. Nursing for one patient with hypersensitivity vasculitis combined with Budd-chiari syndrome%1例超敏性血管炎并Budd-chiari综合征患者的观察及护理

    Institute of Scientific and Technical Information of China (English)

    王艾君

    2007-01-01

    @@ 超敏性血管炎(hypersensitivity vasculitis,HV)是一组以血管坏死和炎性反应为主的改变,以皮肤受累为主要症状,发病之前常有感染和/或使用药物的病史,病理表现为小血管壁嗜中性粒细胞浸润伴核碎片,主要侵犯微动脉、微静脉、毛细血管,使相应组织供血不足.发病急,进展快,有20%患者死于肾功能衰竭.

  16. Study of the septal membranous organization pathology and the correlative factors of the Budd-Chiari syndrome%布-加综合征隔膜组织病理学与相关因素研究

    Institute of Scientific and Technical Information of China (English)

    白卫星; 李天晓; 翟水亭; 马秀现; 曹会存; 王子亮

    2008-01-01

    目的 研究布-加综合征(BCS)隔膜组织与正常下腔静脉中生长因子受体的表达,观察分析BCS隔膜组织的病理改变与患者性别和肝功能储备间相关性,进一步了解膜性BCS的发病机制.方法 隔膜组织标本来自我院1988-2000年BCS患者外科切除组织蜡块,共34例,设为实验组;另外切取16例肾移植供体的下腔静脉组织,设为对照组.免疫组化检测TGFJ3R、PDGFR、FGFR和ET-1在隔膜组织内的表达.比较上述指标在BCS隔膜组织与正常下腔静脉表达的差异,并研究病理表现与患者性别及肝功能分级的关系.结果 正常血管与BCS隔膜组织中均有TGFβR、PDGFR、FGFR及ET-1阳性细胞,4种指标在正常血管与BCS隔膜组织表达率分别为0.21±0.07和0.38±0.14(TGFR),0.30±0.08和0.52±0.07(PDGFR),0.24±0.06和0.50±0.11(FGFR),0.24±0.08和0.54±0.12(ET-1);隔膜组织中上述指标的表达明显高于正常血管(P0.05);不同级别肝功能患者的ET-1表达有明显差异(P<0.05),肝功储备良好患者的ET-1表达率高于肝功能差.结论 ①炎症反应在一定程度上参与了BCS隔膜组织的形成.②BCS隔膜组织与正常血管对比,TGFβR、PDGFR、FGFR及ET-1表达存在差异.③上述生物因子的表达受多种因素影响,与患者性别无相关性,而与患者肝功能储备相关.

  17. 布-加综合征非体外循环下根治术6例报告%Radical Operation of Budd-Chiari Syndrome Without Cardiopulmonary Baypass: A Report of 6 Cases

    Institute of Scientific and Technical Information of China (English)

    刘晓明; 胡燕; 刘季春; 万于华

    2007-01-01

    目的:总结非体外循环下肝素化布-加综合征根治术临床治疗经验.方法:2000年4月至2006年10月采用非体外循环,肝素化对6例布-加综合征病人施行了根治术.在肝素化前提下,完成了下腔静脉远端球囊阻断,可控制性放血,负压吸引血液回收,经右心房插管血液回输等手术关键环节.结果:无重大手术并发症,无手术死亡.结论:该术式简化了体外循环和深低温停循环下布-加综合征根治术的手术程序,保证了手术效果.

  18. Ultrasonography color Doppler of the hepatic venous portal system

    Directory of Open Access Journals (Sweden)

    Juan Carlos Mantilla Suárez

    2006-08-01

    Full Text Available Color doppler ultrasonography is an imaging method that allows theassessment of the venous portal hepatic system to obtain informationfor the diagnosis of portal venous hypertension, identifying thesubtle changes of the hepatic arterial flow, spectral wave and pulsatility index, portal vein diameter, morphology of the spectral wave, direction o flow inverted and portosystemic shunts in advancedpathology as well as in the evaluation of transyugular intrahepaticportosystemic shunts (TIPS, used in the treatment of patients withesophageal bleeding varix. It is useful in diagnosis of the Budd-Chiari syndrome and the evaluation and follow up of patients with inferior vein cava filters. This article offers a review of the hepatic portal venous system and the main ultrasonographic features of portal venous hypertension, and Budd-Chiari syndrome and their causes.

  19. A Rare Presentation of an Entrapment in a Liver Transplant Candidate Depicted by MDCT Angiography

    Science.gov (United States)

    Kantarci, Mecit; Aydin, Unal; Doganay, Selim; Aydinli, Bulent; Yuce, Ihsan; Polat, Kamil Yalcin

    2010-01-01

    Hypertrophic caudate lobe veins can mimic a normal venous configuration. In cases of multiple vascular collaterals, Doppler evaluations must be conducted, and the flow direction of these veins as well as the IVC should be evaluated. If the flow in the IVC is reversed, Budd-Chiari syndrome should be suspected; moreover, at the supra diaphragmatic level, which may be considered a blind spot, particularly for radiologists, a web should be searched for in the area where the IVC opens into the right atrium. In this study, we present the unique findings of multidetector computed tomography (MDCT) angiography for a liver transplant candidate with Budd-Chiari syndrome caused by a web in the proximal IVC. PMID:25610132

  20. 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.

  1. Mutations in ANTXR1 Cause GAPO Syndrome

    NARCIS (Netherlands)

    Stranecky, V.; Hoischen, A.; Hartmannova, H.; Zaki, M.S.; Chaudhary, A.; Zudaire, E.; Noskova, L.; Baresova, V.; Pristoupilova, A.; Hodanova, K.; Sovova, J.; Hulkova, H.; Piherova, L.; Hehir-Kwa, J.Y.; Silva, D. De; Senanayake, M.P.; Farrag, S.; Zeman, J.; Martasek, P.; Baxova, A.; Afifi, H.H.; Croix, B. St.; Brunner, H.G.; Temtamy, S.; Kmoch, S.

    2013-01-01

    The genetic cause of GAPO syndrome, a condition characterized by growth retardation, alopecia, pseudoanodontia, and progressive visual impairment, has not previously been identified. We studied four ethnically unrelated affected individuals and identified homozygous nonsense mutations (c.262C>T [

  2. Multiple abdominal veins thrombosis secondary to protein s deficiency - a case report.

    Science.gov (United States)

    Kodali, Venkata Umakant; Borra, Seshulakshmi; Mandarapu, Surendra Babu; Sanda, Mallikarjuna Rao; Bolla, Srinivasa Rao

    2014-06-01

    Abdominal venous thrombosis may present either as Budd-Chiari syndrome (BCS) caused by hepatic vein or proximal inferior vena cava (IVC) obstruction or as an extra hepatic portal obstruction (EHPVO) caused by Portal vein thrombosis or mesenteric vein thrombosis, but a mixed involvement is uncommon. Multiple abdominal venous obstructions presenting with thrombosis of hepatic vein, IVC, portal vein and renal vein are very rarely seen . We are reporting a rare case with thrombosis of IVC, hepatic vein, portal vein and renal vein, with protein S and protein C deficiencies, which was managed by giving anticoagulant therapy.

  3. Chronic Fatigue Syndrome (CFS): Causes

    Science.gov (United States)

    ... patients and in persons with related disorders like fibromyalgia. Cortisol suppresses inflammation and cellular immune activation, and ... 1994 Case Definition Causes Who's at Risk? Symptoms Diagnosis Patient Examination Process Step 1 Step 2 Step ...

  4. 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...

  5. A case analysis of orthotopic liver transplantation for Wilson disease and with preoperative missed out diagnosis of Budd-chiari syndrome%原位肝移植治疗Wilson病术前漏诊布加综合症1例分析

    Institute of Scientific and Technical Information of China (English)

    周乐杜; 王志明; 汤恢焕; 黄云; 李劲东; 吕新生; 鄢建勤; 郭曲练; 李刚; 李海平

    2007-01-01

    笔者回顾分析1例行原位肝移植治疗肝豆状核变性病(Wilson病)并布加综合征的临床资料.患者28岁,女性,Wilson患者,接受背驮式原位肝移植,术后出现顽固性腹水及双下肢水肿,经彩超、下腔静脉造影证实为布加综合症,予以经股静脉下腔静脉球囊扩张及支架植入.治疗后恢复顺利,现已术后11个月,患者情况良好.提示对于Wilson病合并布加综合症者,在肝移植术前行介入治疗是一种有效的选择,尤其对下腔静脉病变位置靠近右心房者.

  6. Application of color Doppler ultrasonography in the follow-up of patients with Budd-Chiari syndrome after interventional therapy%彩色多普勒超声在Budd-Chiari综合征介入治疗后随访中的应用

    Institute of Scientific and Technical Information of China (English)

    黄崑; 郭荣利; 赵一; 梁松年

    2010-01-01

    目的 探讨彩色多普勒超声检查(CDU)在Budd-Chiari综合征(BCS)介入治疗后随访中的临床应用价值.方法 对28例经数字减影血管造影(DSA)证实为BCS并接受介入治疗的患者,于术后1周内行CDU检查,将CDU结果与术后复查DSA结果进行对比.结果 本组28例患者介入治疗后的CDU结果均与DSA结果一致.以DSA结果为金标准,CDU诊断准确率为100%.结论 CDU可以替代DSA,应用于BCS介入治疗的术后随访.

  7. 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.

  8. The antiphospholipid antibody syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Luma HN

    2012-10-01

    of bleeding due to anticoagulants.Keywords: thrombosis, mesenteric venous thrombosis, anticardiolipin antibodies, Budd-Chiari syndrome, Cameroon

  9. 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

  10. Recurrent cause and surgery effect analysis in varicose veins patients after surgery%下肢静脉曲张术后复发原因及再次手术疗效分析

    Institute of Scientific and Technical Information of China (English)

    甄玲; 涂红梅; 刘吉羊

    2016-01-01

    目的:探讨下肢静脉曲张手术术后复发的原因以及分析再次手术治疗的临床疗效。方法选取2014年2月至2016年1月收治的80例(89条)术后复发下肢静脉曲张的患者为研究对象。采用超声检查和下肢深静脉造影方法判断其复发的原因,根据检查结果采取相应的处理方法。结果大隐静脉全段主干或属枝残留23条,深静脉瓣膜功能不全30条,小隐静脉瓣膜功能不全18条,小隐静脉曲张4条;腹股沟区新生血管形成10条,髂静脉受压综合征2条,布加氏综合征2条。经再次手术后所有患者术后下肢浅静脉曲张治愈率100%,术后无下肢深静脉血栓形成病例,无手术切口感染、延迟愈合病例。结论下肢静脉曲张术前做好全面的诊断,术中注意操作方式方法,有利于降低术后的复发率。针对下肢静脉曲张复发病例,了解复发原因,制定相应的治疗方法,可有效并避免术后复发。%Objective To discuss the cause of relapse after the first surgery of varicose veins,and analyze the clinical efficacy of surgical treatment again. Methods 80 cases(89 strips)of recurrence varicose veins from February 2014 to January 2016 were selected as the research object. Using ultrasound and deep venous angiography to determine the cause of its recurrence,and take the appropriate treatment based on test re-sults. Results Saphenous vein trunk or the whole paragraph belongs to the residual 23 strips,deep venous insufficiency 30 strips,the small sa-phenous vein insufficiency 18 strips,the small saphenous vein 4;groin area neovascularization 10 strips,iliac vein compression syndrome 2 strips, Budd - Chiari syndrome 2 strips. After surgery again,the cure rate was 100% and no postoperative deep venous thrombosis,surgical wound infec-tion,delayed healing happened. Conclusion Varicose veins before surgery to do a comprehensive diagnosis,intraoperative attention to ways and means of

  11. Abdominal thromboses of splanchnic, renal and ovarian veins.

    Science.gov (United States)

    De Stefano, Valerio; Martinelli, Ida

    2012-09-01

    Thromboses of abdominal veins outside the iliac-caval axis are rare but clinically relevant. Early deaths after splanchnic vein thrombosis occur in 5-30% of cases. Sequelae can be liver failure or bowel infarction after splanchnic vein thrombosis, renal insufficiency after renal vein thrombosis, ovarian infarction after ovarian vein thrombosis. Local cancer or infections are rare in Budd-Chiari syndrome, and common for other sites. Inherited thrombophilia is detected in 30-50% of patients. Myeloproliferative neoplasms are the main cause of splanchnic vein thrombosis: 20-50% of patients have an overt myeloproliferative neoplasm and/or carry the molecular marker JAK2 V617F. Renal vein thrombosis is closely related to nephrotic syndrome; finally, ovarian vein thrombosis can complicate puerperium. Heparin is used for acute treatment, sometimes in conjunction with systemic or local thrombolysis. Vitamin K-antagonists are recommended for 3-6 months, and long-term in patients with Budd-Chiari syndrome, unprovoked splanchnic vein thrombosis, or renal vein thrombosis with a permanent prothrombotic state such as nephrotic syndrome.

  12. A Solitary Plasmocytoma Case Causing Horner Syndrome

    Directory of Open Access Journals (Sweden)

    Mustafa Vayvada

    2014-08-01

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

  13. 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.

  14. 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.

  15. 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.

  16. Mutations in ZBTB20 cause Primrose syndrome.

    Science.gov (United States)

    Cordeddu, Viviana; Redeker, Bert; Stellacci, Emilia; Jongejan, Aldo; Fragale, Alessandra; Bradley, Ted E J; Anselmi, Massimiliano; Ciolfi, Andrea; Cecchetti, Serena; Muto, Valentina; Bernardini, Laura; Azage, Meron; Carvalho, Daniel R; Espay, Alberto J; Male, Alison; Molin, Anna-Maja; Posmyk, Renata; Battisti, Carla; Casertano, Alberto; Melis, Daniela; van Kampen, Antoine; Baas, Frank; Mannens, Marcel M; Bocchinfuso, Gianfranco; Stella, Lorenzo; Tartaglia, Marco; Hennekam, Raoul C

    2014-08-01

    Primrose syndrome and 3q13.31 microdeletion syndrome are clinically related disorders characterized by tall stature, macrocephaly, intellectual disability, disturbed behavior and unusual facial features, with diabetes, deafness, progressive muscle wasting and ectopic calcifications specifically occurring in the former. We report that missense mutations in ZBTB20, residing within the 3q13.31 microdeletion syndrome critical region, underlie Primrose syndrome. This finding establishes a genetic link between these disorders and delineates the impact of ZBTB20 dysregulation on development, growth and metabolism.

  17. 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.

  18. Biliary stone causing afferent loop syndrome and pancreatitis

    Institute of Scientific and Technical Information of China (English)

    André Roncon Dias; Roberto Iglesias Lopes

    2006-01-01

    We report the case of an 84-year-old female who had a partial gastrectomy with Billroth-Ⅱ anastomosis 24years ago for a benign peptic ulcer who now presented an acute pancreatitis secondary to an afferent loop syndrome. The syndrome was caused by a gallstone that migrated through a cholecystoenteric fistula. This is the first description in the literature of a biliary stone causing afferent loop syndrome.

  19. 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.

  20. Contact urticaria syndrome caused by haptens

    OpenAIRE

    Gomułka, Krzysztof; Panaszek, Bernard

    2014-01-01

    In the group of urticaria, contact urticaria syndrome is a particular variety. In these patients, appearance of typical skin lesions is preceded by contact of the skin and mucous membranes with various inhaled allergens, nutrients or contact details. Furthermore, symptoms connected with contact urticaria syndrome are characterized by gradual, stepwise waveform, which can be easily generalized – patients may develop systemic symptoms similar to those found in the angioedema, asthma or anaphyla...

  1. 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.

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

    OpenAIRE

    Mustafa Volkan Demir; Selçuk Yaylaci; Tuba Öztürk Demir; Tayfun Temiz; Ahmet Bilal Genç

    2015-01-01

    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 h...

  3. Infectious causes of sudden infant death syndrome.

    Science.gov (United States)

    Alfelali, Mohammad; Khandaker, Gulam

    2014-12-01

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

  4. 2.GENERAL TREATMENT

    Institute of Scientific and Technical Information of China (English)

    1993-01-01

    2.2.Physical method of treatment930623 Clinical observation of Budd-Chiari syn-drome treated by balloon angioplasty(report of 24cases).XU Ke,et al.Dept Radiol,1st Hosp,China Med Univ,Shenyang,110001.Chin J Radiol1993;27(7):439—442.

  5. 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.

  6. Tourette Syndrome (TS): Risk Factors and Causes

    Science.gov (United States)

    ... having TS. The causes of TS and other tic disorders are not well understood. Although the risk ... whether certain children are more likely to develop tics following a group A ß-hemolytic streptococcal (“strep”) ...

  7. 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...

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

    Directory of Open Access Journals (Sweden)

    Mariana Heid Rocha Hemerly

    2014-06-01

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

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

    OpenAIRE

    Mariana Heid Rocha Hemerly; Marcelo Berno Mattos; Fábio Petersen Saraiva; Fellipe Berno Mattos

    2014-01-01

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

  10. Mutations in KCTD1 cause scalp-ear-nipple syndrome.

    Science.gov (United States)

    Marneros, Alexander G; Beck, Anita E; Turner, Emily H; McMillin, Margaret J; Edwards, Matthew J; Field, Michael; de Macena Sobreira, Nara Lygia; Perez, Ana Beatriz A; Fortes, Jose A R; Lampe, Anne K; Giovannucci Uzielli, Maria Luisa; Gordon, Christopher T; Plessis, Ghislaine; Le Merrer, Martine; Amiel, Jeanne; Reichenberger, Ernst; Shively, Kathryn M; Cerrato, Felecia; Labow, Brian I; Tabor, Holly K; Smith, Joshua D; Shendure, Jay; Nickerson, Deborah A; Bamshad, Michael J

    2013-04-04

    Scalp-ear-nipple (SEN) syndrome is a rare, autosomal-dominant disorder characterized by cutis aplasia of the scalp; minor anomalies of the external ears, digits, and nails; and malformations of the breast. We used linkage analysis and exome sequencing of a multiplex family affected by SEN syndrome to identify potassium-channel tetramerization-domain-containing 1 (KCTD1) mutations that cause SEN syndrome. Evaluation of a total of ten families affected by SEN syndrome revealed KCTD1 missense mutations in each family tested. All of the mutations occurred in a KCTD1 region encoding a highly conserved bric-a-brac, tram track, and broad complex (BTB) domain that is required for transcriptional repressor activity. KCTD1 inhibits the transactivation of the transcription factor AP-2α (TFAP2A) via its BTB domain, and mutations in TFAP2A cause cutis aplasia in individuals with branchiooculofacial syndrome (BOFS), suggesting a potential overlap in the pathogenesis of SEN syndrome and BOFS. The identification of KCTD1 mutations in SEN syndrome reveals a role for this BTB-domain-containing transcriptional repressor during ectodermal development.

  11. A Rare Cause of Macroscobic Hematuria: Nutcracker Syndrome

    Directory of Open Access Journals (Sweden)

    Nilgün Selçuk Duru

    2015-03-01

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

  12. An unusual cause of intraoperative acute superior vena cava syndrome

    Directory of Open Access Journals (Sweden)

    Adam W Amundson

    2013-01-01

    Full Text Available Acute intraoperative superior vena cava (SVC syndrome is an exceedingly rare complication in the cardiac surgical population. We describe the case of a 71-year-old female undergoing multi-vessel coronary artery bypass grafting who developed acute intraoperative SVC syndrome following internal thoracic artery harvest retractor placement. Her symptoms included severe plethora, facial engorgement and scleral edema, which was associated with hypotension and severe elevation of central venous pressure. Transesophageal echocardiography was crucial in the diagnosis, management, and optimal retractor placement ensuring adequate SVC flow. Potential causes of intraoperative SVC syndrome are reviewed as well as management options.

  13. Methylene Blue Causing Serotonin Syndrome Following Cystocele Repair.

    Science.gov (United States)

    Kapadia, Kailash; Cheung, Felix; Lee, Wai; Thalappillil, Richard; Florence, F Barry; Kim, Jason

    2016-11-01

    Methylene blue is an intravenously administered agent that may potentiate serotonin syndrome. The usage of methylene blue to evaluate ureters for injuries and patency during urological surgeries is recognized as common practice. However, there is no mention of serotonin syndrome caused by methylene blue in urological literature or for urological surgery. We report the first urological case in order to raise awareness of the risk for serotonin toxicity with utilizing methylene blue.

  14. Methylene Blue Causing Serotonin Syndrome Following Cystocele Repair

    Directory of Open Access Journals (Sweden)

    Kailash Kapadia

    2016-11-01

    Full Text Available Methylene blue is an intravenously administered agent that may potentiate serotonin syndrome. The usage of methylene blue to evaluate ureters for injuries and patency during urological surgeries is recognized as common practice. However, there is no mention of serotonin syndrome caused by methylene blue in urological literature or for urological surgery. We report the first urological case in order to raise awareness of the risk for serotonin toxicity with utilizing methylene blue.

  15. Infraclavicular subpectoral lipoma causing thoracic outlet syndrome

    Directory of Open Access Journals (Sweden)

    Stefano Elia

    2015-01-01

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

  16. Hereditary and Acquired Thrombophilia in Splanchnic Vein Thrombosis: A Single-Center Experience.

    Science.gov (United States)

    Mutreja, Deepti; Kotru, Mrinalini; Sazawal, Sudha; Ranjan, Ravi; Sharma, Amit; Acharya, Subrat Kumar; Saxena, Renu

    2015-09-01

    The purpose of this study was to characterize differences in the prevalence of hereditary and acquired thrombophilia in patients with splanchnic vein thrombosis (SVT). A total of 88 consecutive patients with SVT, including Budd Chiari Syndrome (n = 47) and portal extrahepatic portal vein obstruction (n = 41), underwent comprehensive thrombophilia testing, including testing for heritable and acquired causes. In 33 (37.5%) patients, etiology could be explained by at least 1 of the heritable etiologic factors, and 31 (35.2%) patients could be explained by at least 1 of the acquired causes studied. The combination of multiple concurrent factors was present in 9 (11.4%) patients. Among the heritable causes, the risk of SVT was found increased in the presence of thrombophilia resulting from the deficiencies of the naturally occurring anticoagulant proteins, and the acquired thrombogenic factors were significantly associated with causation of thrombosis in adult patients with SVT.

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

    Science.gov (United States)

    Imai, Shinji; Kodama, Narihito; Matsusue, Yoshitaka

    2008-01-01

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

  18. [Brucellosis as a cause of hemophagocytic syndrome].

    Science.gov (United States)

    Aydın, Saliha; Günal, Özgür; Taşkın, Mehmet Hakan; Atilla, Aynur; Kılıç, Süleyman Sırrı

    2015-04-01

    Hemophagocytic lymphohistiocytosis (HLH) is a rare syndrome of excessive inflammation and tissue destruction due to abnormal immune activation and inflammation. HLH can occur primarily due to genetic etiology, or secondarily associated with malignancies, autoimmmune diseases or infections. There are a number of reports that revealed the relationship of hemophagocytosis with brucellosis. In this report, we described a brucellosis-related HLH case. A 73-year-old male who work as farmer was admitted to our hospital with the complaints of fever continuing for 10 days, loss of appetite and back pain. Physical examination revealed right upper quadrant tenderness and hepatomegaly. Since the patient exhibited five of the diagnostic criteria for HLH (fever, hepatosplenomegaly, bicytopenia, hypertriglyceridemia and high ferritin level), he was diagnosed as secondary HLH. PCR, microscopic agglutination and indirect fluorescent antibody tests gave negative results for the diagnosis of Crimean-Congo hemorrhagic fever, leptospirosis and Q fever, respectively. On the other hand, Rose Bengal test for brucellosis was positive, while standard tube agglutination test (STA) was negative. The patient's serum yielded a very high positive (1/1280) result when Coombs' test was performed in terms of the possibility of blocking antibodies or prozone phenomenon. Additionally, B.melitensis was isolated from his blood culture on the sixth day. The patient was treated with doxycycline and rifampicin, and on the 10th day of antibiotic therapy the patient was discharged and recommended to complete his treatment up to 6 weeks. In conclusion, in patients with secondary HLH symptoms especially in the endemic areas, brucellosis should be considered as a predisposing infection.

  19. A Rare Cause of Secondary Hypertension: Conn Syndrom

    Directory of Open Access Journals (Sweden)

    Samet Sayilan

    2016-01-01

    Full Text Available Hypertension, is classified as primary (essential or secondary based on whether there is an identifiable cause. When it is determined a certain underlying cause of hypertension it is categorized as secondary hypertension. Conn%u2019s syndrome (primary hyperaldosteronism, a disorder of adrenal cortex characterized by exces aldosterone secretion, is an endocrine disorder that causes hypertension and it is seen in about 0.1% of all patients with hypertension. It can be caused by either unilateral disease (i.e. adenoma in one adrenal gland or bilateral disease (i.e. hyperplasia in both adrenal glands. Conn%u2019s syndrome secondary to bilateral adrenal adenoma, a cause of secondary hypertension, was presented in this articleas it is rarely reported in the literature.

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

    Science.gov (United States)

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

    2011-01-01

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

  1. Unilateral facial paralysis caused by Ramsay Hunt syndrome.

    Science.gov (United States)

    Pereira, Flávia P; Guskuma, Marcos H; Luvizuto, Eloá R; Faco, Eduardo F S; Magro-Filho, Osvaldo; Hochuli-Vieira, Eduardo

    2011-09-01

    The Ramsay Hunt syndrome is a rare disease caused by an infection of the geniculate ganglion by the varicella-zoster virus. The main clinical features of the syndrome are as follows: Bell palsy unilateral or bilateral, vesicular eruptions on the ears, ear pain, dizziness, preauricular swelling, tingling, tearing, loss of taste sensation, and nystagmus. We describe a 23-year-old white woman, who presented with facial paralysis on the left side of the face, pain, fever, ear pain, and swelling in the neck and auricular region on the left side. She received appropriate treatment with acyclovir, vitamin B complex, and CMP nucleus. After 30 days after presentation, the patient did not show any signs or symptoms of the syndrome. At follow-up at 1 year, she showed no relapse of the syndrome.

  2. Positive Apraclonidine Test in Horner Syndrome Caused by Thalamic Hemorrhage.

    Science.gov (United States)

    Kauh, Courtney Y; Bursztyn, Lulu L C D

    2015-09-01

    Reversal of anisocoria following instillation of apraclonidine 0.5% has been reported in Horner syndrome caused by lesions of the central and peripheral nervous system. The shortest documented latency between symptom onset and a positive apraclonidine test is 36 hours, occurring in a patient with a pontomedullary infarct. We present the case of a 69-year-old man with Horner syndrome due to thalamic hemorrhage in whom apraclonidine testing demonstrated reversal of anisocoria 4 days after symptom onset. This is the first reported case of a positive apraclonidine test in a Horner syndrome caused by a lesion at this site. It suggests that apraclonidine testing is useful in confirming the diagnosis within days of onset even in a lesion located at the most proximal portion of the oculosympathetic pathway.

  3. Kingella kingae causing septic arthritis in Felty's syndrome.

    Science.gov (United States)

    Lewis, D A; Settas, L

    1983-08-01

    A case of septic arthritis of the elbow caused by Kingella kingae, a Gram-negative bacillus, is described. The patient had long-standing, severe rheumatoid arthritis and Felty's syndrome. This appears to be the first report from the United Kingdom of Kingella kingae as the aetiological agent of septic arthritis.

  4. Kingella kingae causing septic arthritis in Felty's syndrome.

    OpenAIRE

    Lewis, D A; Settas, L

    1983-01-01

    A case of septic arthritis of the elbow caused by Kingella kingae, a Gram-negative bacillus, is described. The patient had long-standing, severe rheumatoid arthritis and Felty's syndrome. This appears to be the first report from the United Kingdom of Kingella kingae as the aetiological agent of septic arthritis.

  5. Nasu-Hakola Syndrome: An Unusual Cause of Pathological Fractures

    Directory of Open Access Journals (Sweden)

    Jaykar R. Panchmatia

    2012-01-01

    Full Text Available Nasu-Hakola syndrome is a hereditary cause of pathological fractures. Uniquely, patients also develop neuropsychiatric symptoms and signs. The disease is ultimately fatal. We propose a management strategy for pathological fractures in sufferers based on the stage of the disease.

  6. 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.

  7. 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.

  8. [Research advances in diagnosis and treatment of post-transjugular intrahepatic portosystemic shunt hepatic encephalopathy].

    Science.gov (United States)

    Yang, J F; Zhang, B Q

    2016-07-20

    Transjugular intrahepatic portosystemic shunt (TIPS) has become an important minimally invasive interventional technique for the treatment of complications of cirrhotic portal hypertension, and currently, it is often used in cirrhotic patients with esophagogastric variceal bleeding (EVB), intractable ascites, hepatic hydrothorax, and Budd-Chiari syndrome. On one hand, TIPS can effectively reduce portal vein pressure and the risk of EVB and intractable ascites; on the other hand, it may reduce the blood flow in liver perfusion, aggravate liver impairment, and cause porto-systemic encephalopathy. Related influencing factors should be evaluated comprehensively in order to prevent the development of post-TIPS hepatic encephalopathy. The diagnosis and treatment of post-TIPS hepatic encephalopathy is still a great challenge in current clinical practice. This article reviews the diagnosis and treatment of post-TIPS hepatic encephalopathy to enhance people's knowledge of this disease.

  9. Imaging of Drug-induced Complications in the Gastrointestinal System.

    Science.gov (United States)

    McGettigan, Melissa J; Menias, Christine O; Gao, Zhenqiang J; Mellnick, Vincent M; Hara, Amy K

    2016-01-01

    Drug-induced injury commonly affects the gastrointestinal and hepatobiliary systems because of the mechanisms of absorption and metabolism. In pill esophagitis, injury is frequently related to direct contact with the esophageal mucosa, resulting in small superficial ulcers in the mid esophagus. Nonsteroidal anti-inflammatory drugs can lead to gastrointestinal tract ulcers and small bowel mucosal diaphragms (thin weblike strictures). Injury to the pancreatic and hepatobiliary systems can manifest as pancreatitis, acute or chronic hepatitis, cholestasis, or steatosis and steatohepatitis (which may progress to cirrhosis). Various drugs may also insult the hepatic vasculature, resulting in Budd-Chiari and sinusoidal obstructive syndromes. Focal lesions such as hepatic adenomas may develop after use of oral contraceptives or anabolic steroids. Ultrasonography, computed tomography, and magnetic resonance imaging can aid in diagnosis of drug-induced injuries and often are necessary to exclude other causes.

  10. Gluteal compartment syndrome after prostatectomy caused by incorrect positioning.

    Science.gov (United States)

    Heyn, Jens; Ladurner, R; Ozimek, A; Vogel, T; Hallfeldt, K K; Mussack, T

    2006-04-28

    Gluteal compartment syndrome is an uncommon and rare disease. Most reasonable causes for the development of this disease are trauma, drug induced coma, Ehlers-Danlos syndrome, sickle cell associated muscle infarction, incorrect positioning during surgical procedures and prolonged pressure in patients with altered consciousness levels. The diagnosis requires a high index of suspicion, especially in postoperative patient where sedation or peridural anaesthesia can confound the neurological examination. Early signs include gluteal tenderness, decrease in vibratory sensation during clinical examination and increasing CK in laboratory findings. We present a case of a 52 year-old patient, who developed gluteal compartment syndrome after radical prostatectomy in lithotomic position. After operation, diuresis decreased [pain in the gluteal region and both thighs. His thighs and the gluteal region were swollen. Passive stretch of the thighs caused enormous pain. The compartment pressure was 92 mmHg. Therefore, emergency fasciotomy was performed successfully. The gluteal compartment syndrome was most likely caused by elevated pressure on the gluteal muscle during operation. We suggest heightened awareness of positioning the patient on the operating table is important especially in obese patients with lengthy operating procedures.

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

    Directory of Open Access Journals (Sweden)

    Alparslan Bayram Carli

    2015-08-01

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

  12. 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. 

  13. Lipoma causing Guyon's canal syndrome: a case report and review

    Directory of Open Access Journals (Sweden)

    Narayanathu Chellappantilla Sreekumar

    2014-12-01

    Full Text Available Compression of the ulnar nerve in Guyon's canal leads to Guyon's canal syndrome. Lipoma is a rare cause of such compressions with only 12 cases reported previously. We report a 55-year-old man who presented with swelling in the left hand with decreased sensation in the ring and little fingers. Magnetic resonance imaging revealed high signals in T1-weighted and T2-weighted images with suppression of the short T1 inversion recovery signal, suggestive of lipoma. On exploration a well-encapsulated, dumbbell-shaped, fatty tumor was seen in the hypothenar space and Guyon's canal. The tumor was enucleated in toto. At 6-month follow-up, the patient had fully regained sensation. A review of the literature is presented for similar cases where a lipoma was the cause of Guyon's canal syndrome.

  14. Therapeutic Management of Hypothenar Hammer Syndrome Causing Ulnar Nerve Entrapment

    Directory of Open Access Journals (Sweden)

    Emanuele Cigna

    2010-01-01

    Full Text Available Introduction. The hypothenar hammer syndrome is a rare traumatic vascular disease of the hand. Method and Materials. We report the case of a 43-years-old man with a painful tumefaction of the left hypothenar region. The ulnar artery appeared thrombosed clinically and radiologically. The patient underwent surgery to resolve the ulnar nerve compression and revascularise the artery. Results. The symptoms disappeared immediately after surgery. The arterial flow was reestablished. Postoperatively on day 20, a new thrombosis of the ulnar artery occurred. Conclusion. Hypothenar hammer syndrome is caused by repetitive trauma to the heel of the hand. The alterations of the vessel due to its chronic inflammation caused an acute compression of the ulnar nerve at the Guyon's canal and, in our case, do not allow a permanent revascularisation of the ulnar artery.

  15. 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

  16. Intronic splicing mutations in PTCH1 cause Gorlin syndrome.

    Science.gov (United States)

    Bholah, Zaynab; Smith, Miriam J; Byers, Helen J; Miles, Emma K; Evans, D Gareth; Newman, William G

    2014-09-01

    Gorlin syndrome is an autosomal dominant disorder characterized by multiple early-onset basal cell carcinoma, odontogenic keratocysts and skeletal abnormalities. It is caused by heterozygous mutations in the tumour suppressor PTCH1. Routine clinical genetic testing, by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) to confirm a clinical diagnosis of Gorlin syndrome, identifies a mutation in 60-90 % of cases. We undertook RNA analysis on lymphocytes from ten individuals diagnosed with Gorlin syndrome, but without known PTCH1 mutations by exonic sequencing or MLPA. Two altered PTCH1 transcripts were identified. Genomic DNA sequence analysis identified an intron 7 mutation c.1068-10T>A, which created a strong cryptic splice acceptor site, leading to an intronic insertion of eight bases; this is predicted to create a frameshift p.(His358Alafs*12). Secondly, a deep intronic mutation c.2561-2057A>G caused an inframe insertion of 78 intronic bases in the cDNA transcript, leading to a premature stop codon p.(Gly854fs*3). The mutations are predicted to cause loss of function of PTCH1, consistent with its tumour suppressor function. The findings indicate the importance of RNA analysis to detect intronic mutations in PTCH1 not identified by routine screening techniques.

  17. Gitelman's syndrome as a cause of poorly controlled hypokalemia.

    Science.gov (United States)

    Dimitrijevic, Z; Salinger-Martinovic, S; Mitic, B; Nikolic, V

    2015-01-01

    Gitelman's syndrome is a rare autosomal recessive tubulopathy caused by a defect of the thiazide-sensitive sodium chloride co-transporter at the distal tubule, leading to hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria and low-to-normal blood pressure. Clinical features include transient periods of muscle weakness and tetany, dizziness, abdominal pains and constipation. Patients can also present with convulsions due to severe metabolic alkalosis or hypomagnesemia. Therefore, early recognition and treatment are important. Diagnosis of Gitelman's syndrome is usually made incidentally during adolescence or early adulthood based on clinical and biochemical findings. In this paper we present the case of a 23-year-old female patient referred to our nephrology department for severe hypokalemia. Complementary evaluation revealed hypokalemia, hypomagnesemia, metabolic alkalosis, increased chloride and sodium urinary excretion and reduced urinary calcium excretion with normal renal function. A diagnosis of Gitelman syndrome was established. Treatment included magnesium and potassium salts and potassium saving diuretics. In general, the long-term prognosis of Gitelman's syndrome is good if the patient adhere with the treatment.

  18. Cerebral Salt-Wasting Syndrome Caused by Minor Head Injury.

    Science.gov (United States)

    Fukuoka, Toshiki; Tsurumi, Yuko; Tsurumi, Arihito

    2017-01-01

    A 34-year-old woman was admitted to hospital after sustaining a head injury in a motor vehicle accident (day 1). No signs of neurological deficit, skull fracture, brain contusion, or intracranial bleeding were evident. She was discharged without symptoms on day 4. However, headache and nausea worsened on day 8, at which time serum sodium level was noted to be 121 mEq/L. Treatment with sodium chloride was initiated, but serum sodium decreased to 116 mEq/L on day 9. Body weight decreased in proportion to the decrease in serum sodium. Cerebral salt-wasting syndrome was diagnosed. This case represents the first illustration of severe hyponatremia related to cerebral salt-wasting syndrome caused by a minor head injury.

  19. Cerebral Salt-Wasting Syndrome Caused by Minor Head Injury

    Directory of Open Access Journals (Sweden)

    Toshiki Fukuoka

    2017-01-01

    Full Text Available A 34-year-old woman was admitted to hospital after sustaining a head injury in a motor vehicle accident (day 1. No signs of neurological deficit, skull fracture, brain contusion, or intracranial bleeding were evident. She was discharged without symptoms on day 4. However, headache and nausea worsened on day 8, at which time serum sodium level was noted to be 121 mEq/L. Treatment with sodium chloride was initiated, but serum sodium decreased to 116 mEq/L on day 9. Body weight decreased in proportion to the decrease in serum sodium. Cerebral salt-wasting syndrome was diagnosed. This case represents the first illustration of severe hyponatremia related to cerebral salt-wasting syndrome caused by a minor head injury.

  20. [Hemolytic uremic syndrome caused by enterohaemorrhagic Escherichia coli].

    Science.gov (United States)

    Ibarra, Cristina; Goldstein, Jorge; Silberstein, Claudia; Zotta, Elsa; Belardo, Marcela; Repetto, Horacio A

    2008-10-01

    Hemolytic uremic syndrome (HUS) is characterized by microangiopathic hemolytic anemia, plaquetopenia and kidney damage. It is the leading cause of acute renal failure in pediatric age and the second for chronic renal failure. Shiga toxin-producing Escherichia coli (STEC) is the first etiologic agent of HUS being its main reservoir cattle and transmitted via contaminated food. At present, there is no specific treatment to reduce the progression of HUS. The study of the mechanisms by which STEC infects and Shiga toxin induces HUS can help to find new strategies to prevent this disease.

  1. 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.

  2. Unusual cause of childhood anemia: Imerslund grasbeck syndrome

    Directory of Open Access Journals (Sweden)

    Kishan Prasad Hosapatna Laxminarayana

    2011-01-01

    Full Text Available Imerslund Grasbeck syndrome (IGS is a rare autosomal recessive childhood disorder characterized by selective Vitamin (vit B 12 malabsorption with asymptomatic proteinuria without any structural renal pathology. The patients stay healthy for decades with life-long parenteral vit B12. We report a case of young female who presented with pancytopenia and proteinuria, evaluated in local hospitals as chronic hemolytic anemia (autoimmune cause, finally diagnosed as IGS on complete evaluation. She was treated with injectable vit B12 (1000 μg cyanocobalalmin and showed drastic recovery. IGS should be considered in patients with megaloblastic anemia not responding to oral vit B12 and associated proteinuria.

  3. 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.

  4. CtIP Mutations Cause Seckel and Jawad Syndromes.

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    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.

  5. [Neuroleptic malignant syndrome : Rare cause of fever of unknown origin].

    Science.gov (United States)

    Chackupurakal, R; Wild, U; Kamm, M; Wappler, F; Reske, D; Sakka, S G

    2015-07-01

    Neuroleptic malignant syndrome (NMS) is a possible cause of fever of unknown origin (FUO) and is a potentially fatal adverse effect of various drugs, especially of neuroleptics. First generation antipsychotics, such as received by the patient described in this article, are more likely to cause NMS than second generation antipsychotics. The key symptoms are the development of severe muscle rigidity and elevated temperature associated with the use of neuroleptic medication. Malignant catatonia (MC) is an important differential diagnosis of NMS. While neuroleptics can trigger NMS and must be immediately discontinued if NMS occurs, neuroleptic therapy represents the first line treatment for MC. This article describes the case of a patient with schizoaffective disorder where initially the diagnosis of NMS was not clear. Eventually, fever and a markedly elevated serum creatine kinase (CK) led to the correct diagnosis and the appropriate therapy with dantrolene, bromocriptine and amantadine. Furthermore, a thorough review of the currently available literature on NMS is provided.

  6. Leg Weakness Caused by Bilateral Piriformis Syndrome: A Case Report.

    Science.gov (United States)

    Moon, Hee Bong; Nam, Ki Yeun; Kwon, Bum Sun; Park, Jin Woo; Ryu, Gi Hyeong; Lee, Ho Jun; Kim, Chang Jae

    2015-12-01

    Piriformis syndrome (PS) is an uncommon neuromuscular disorder caused by the piriformis muscle (PM) compressing the sciatic nerve (SN). The main symptom of PS is sciatica, which worsens with certain triggering conditions. Because the pathophysiology is poorly understood, there are no definite diagnostic and therapeutic choices for PS. This case report presents a young woman who mainly complained of bilateral leg weakness. Electromyography revealed bilateral sciatic neuropathy and magnetic resonance imaging confirmed structural lesions causing entrapment of the bilateral SNs. After a laborious diagnosis of bilateral PS, she underwent PM releasing surgery. Few PS cases present with bilateral symptoms and leg weakness. Therefore, in such cases, a high level of suspicion is necessary for accurate and prompt diagnosis and treatment.

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

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    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.

  8. Intracranial hemorrhage revealing pseudohypoparathyroidism as a cause of fahr syndrome.

    Science.gov (United States)

    Swami, Abhijit; Kar, Giridhari

    2011-01-01

    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 FT(4), low FT(3), 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.

  9. Pallister-Killian syndrome: an unusual cause of epileptic spasms.

    Science.gov (United States)

    Sánchez-Carpintero, Rocio; McLellan, Ailsa; Parmeggiani, Lucio; Cockwell, Annette E; Ellis, Richard J; Cross, J Helen; Eckhardt, Susan; Guerrini, Renzo

    2005-11-01

    Pallister-Killian syndrome (PKS) is a rare, sporadic, genetic disorder characterized by dysmorphic features, learning disability, and epilepsy. It is caused by a mosaic supernumerary isochromosome 12p (i[12p]). The i(12p) is rarely found in peripheral blood but it is present in skin fibroblasts. Recognition is essential for cytogenetic diagnosis. We describe a male aged 2 years 6 months and a female aged 11 years with PKS and epileptic spasms (ES). This type of seizure is not unusual in patients with brain malformations and with severe developmental delay, but it is sometimes difficult to recognize without video-electroencephalogram studies and could be mistaken for other types of seizure or behavioural manifestations. In these two patients with PKS, spasms had late onset, persisted beyond infancy, and were drug resistant. Clinicians should be aware of this possibility in PKS, which appears to be a rare cause of ES.

  10. Disruption of PTPRO Causes Childhood-Onset Nephrotic Syndrome

    Science.gov (United States)

    Ozaltin, Fatih; Ibsirlioglu, Tulin; Taskiran, Ekim Z.; Baydar, Dilek Ertoy; Kaymaz, Figen; Buyukcelik, Mithat; Kilic, Beltinge Demircioglu; Balat, Ayse; Iatropoulos, Paraskevas; Asan, Esin; Akarsu, Nurten A.; Schaefer, Franz; Yilmaz, Engin; Bakkaloglu, Ayşin

    2011-01-01

    Idiopathic nephrotic syndrome (INS) is a genetically heterogeneous group of disorders characterized by proteinuria, hypoalbuminemia, and edema. Because it typically results in end-stage kidney disease, the steroid-resistant subtype (SRNS) of INS is especially important when it occurs in children. The present study included 29 affected and 22 normal individuals from 17 SRNS families; genome-wide analysis was performed with Affymetrix 250K SNP arrays followed by homozygosity mapping. A large homozygous stretch on chromosomal region 12p12 was identified in one consanguineous family with two affected siblings. Direct sequencing of protein tyrosine phosphatase receptor type O (PTPRO; also known as glomerular epithelial protein-1 [GLEPP1]) showed homozygous c.2627+1G>T donor splice-site mutation. This mutation causes skipping of the evolutionarily conserved exon 16 (p.Glu854_Trp876del) at the RNA level. Immunohistochemistry with GLEPP1 antibody showed a similar staining pattern in the podocytes of the diseased and control kidney tissues. We used a highly polymorphic intragenic DNA marker—D12S1303—to search for homozygosity in 120 Turkish and 13 non-Turkish individuals in the PodoNet registry. This analysis yielded 17 candidate families, and a distinct homozygous c.2745+1G>A donor splice-site mutation in PTPRO was further identified via DNA sequencing in a second Turkish family. This mutation causes skipping of exon 19, and this introduces a premature stop codon at the very beginning of exon 20 (p.Asn888Lysfs∗3) and causes degradation of mRNA via nonsense-mediated decay. Immunohistochemical analysis showed complete absence of immunoreactive PTPRO. Ultrastructural alterations, such as diffuse foot process fusion and extensive microvillus transformation of podocytes, were observed via electron microscopy in both families. The present study introduces mutations in PTPRO as another cause of autosomal-recessive nephrotic syndrome. PMID:21722858

  11. Acute compartment syndrome of the forearm caused by calcific tendinitis of the distal biceps.

    Science.gov (United States)

    Garayoa, Santiago Amillo; Romero-Muñoz, Luis M; Pons-Villanueva, Juan

    2010-12-01

    Acute compartment syndrome of the forearm requires immediate treatment to avoid damage of the soft tissues and a poor functional outcome for the forearm. Muscular and bone lesions are the main causes of acute compartment syndromes. We report a case of acute compartment syndrome of the forearm caused by a calcific tendinitis of the distal biceps.

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

    OpenAIRE

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

    2016-01-01

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

  13. Homozygous Nonsense Mutations in TWIST2 Cause Setleis Syndrome

    Science.gov (United States)

    Tukel, Turgut; Šošić, Dražen; Al-Gazali, Lihadh I.; Erazo, Mónica; Casasnovas, Jose; Franco, Hector L.; Richardson, James A.; Olson, Eric N.; Cadilla, Carmen L.; Desnick, Robert J.

    2010-01-01

    The focal facial dermal dysplasias (FFDDs) are a group of inherited developmental disorders in which the characteristic diagnostic feature is bitemporal scar-like lesions that resemble forceps marks. To date, the genetic defects underlying these ectodermal dysplasias have not been determined. To identify the gene defect causing autosomal-recessive Setleis syndrome (type III FFDD), homozygosity mapping was performed with genomic DNAs from five affected individuals and 26 members of the consanguineous Puerto Rican (PR) family originally described by Setleis and colleagues. Microsatellites D2S1397 and D2S2968 were homozygous in all affected individuals, mapping the disease locus to 2q37.3. Haplotype analyses of additional markers in the PR family and a consanguineous Arab family further limited the disease locus to ∼3 Mb between D2S2949 and D2S2253. Of the 29 candidate genes in this region, the bHLH transcription factor, TWIST2, was initially sequenced on the basis of its known involvement in murine facial development. Homozygous TWIST2 nonsense mutations, c.324C>T and c.486C>T, were identified in the affected members of the Arab and PR families, respectively. Characterization of the expressed mutant proteins, p.Q65X and p.Q119X, by electrophoretic mobility shift assays and immunoblot analyses indicated that they were truncated and unstable. Notably, Setleis syndrome patients and Twist2 knockout mice have similar facial features, indicating the gene's conserved role in mammalian development. Although human TWIST2 and TWIST1 encode highly homologous bHLH transcription factors, the finding that TWIST2 recessive mutations cause an FFDD and dominant TWIST1 mutations cause Saethre-Chotzen craniocynostosis suggests that they function independently in skin and bone development. PMID:20691403

  14. Rare cause of natural death in forensic setting: hemophagocytic syndrome.

    Science.gov (United States)

    Ondruschka, B; Habeck, J-O; Hädrich, C; Dreßler, J; Bayer, R

    2016-05-01

    We report about the case of a sudden unexpected death of a 25-year-old male suffering from infectious disease. An autopsy was ordered with no final premortem diagnosis. Microscopic and microbiological examination revealed a pneumococcal bronchopneumonia and hemophagocytic lesions in the bone marrow. After integrating clinical and autopsy reports as well as additional postmortem investigations, the cause of death was found to be infectious-triggered hemophagocytic syndrome (HPS) with a final cytokine storm. This seems to be the first reported fatal case of a reactive form of HPS associated to Streptococcus pneumoniae to the best of our knowledge. HPS is a dangerous hyperinflammation with highly characteristic, but nonspecific, laboratory findings and symptoms. Autopsies in such cases must be carefully performed and include systematic tissue sampling done by an experienced pathologist.

  15. 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.

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

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    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.

  17. A rare cause of tall stature: Sotos syndrome

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    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.

  18. An Aggressive Sphenoid Wing Meningioma Causing Foster Kennedy Syndrome

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    Harpreet S. Walia

    2012-01-01

    Full Text Available Foster Kennedy syndrome is a rare neurological condition with ophthalmic significance that can manifest as acute visual loss. It is classically characterised by unilateral optic nerve atrophy and contralateral papilledema resulting from an intracranial neoplasm. Physicians should consider Foster Kennedy syndrome in patients who present with visual loss and who have a history of intracranial neoplasm. In addition to ophthalmologic examination, neuroimaging is essential for the diagnosis of Foster Kennedy syndrome.

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

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    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

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

    Science.gov (United States)

    GIGANTE, ANTONIO; BOTTEGONI, CARLO; BARBADORO, PAMELA

    2016-01-01

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

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

    NARCIS (Netherlands)

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

    2015-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Manoj Kumar Sahu

    2015-01-01

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

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

    Science.gov (United States)

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

    2002-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Dr. Vipul D Yagnik

    2010-07-01

    Full Text Available 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 removed through gastrotomy. Post-operative course was unremarkable.

  5. Anterior throat pain syndromes: causes for undiagnosed craniofacial pain.

    Science.gov (United States)

    Shankland, Wesley E

    2010-01-01

    It is not uncommon for practitioners who treat craniofacial pain to see patients with undiagnosed throat and submandibular pain. Usually, these patients will already have been seen by their primary care physician and frequently, several others doctors including otolaryngologists, oral and maxillofacial surgeons, and even neurologists. Far too often these patients have three common features: 1. they have endured multiple expensive diagnostic tests; 2. they have received treatment of multiple courses of antibiotics; and 3. no specific diagnosis for their pain complaints has been determined and their pain persists. In this article, five disorders, Ernest syndrome, Eagle's syndrome, carotid artery syndrome, hyoid bone syndrome and superior pharyngeal constrictor syndrome are briefly described. All five produce common symptoms, making diagnosis difficult, which is often followed by ineffective or no treatment being provided to the patient. Diagnostic criteria and suggested treatment modalities are also presented.

  6. Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63

    Science.gov (United States)

    Ueda, Koichi; Satoh, Chisei; Maekawa, Ryuta; Yoshiura, Koh-ichiro; Iseki, Sachiko

    2016-01-01

    Summary: A patient who had ectrodactyly, dry skin, exfoliative dermatitis, and hypodontia with peg-shaped teeth, but not cleft lip and palate, is described. Ectrodactyly with a tooth anomaly is recognized in both acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome and ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome. These 2 syndromes are caused by heterozygous mutations in the transcriptional factor gene p63. Mutation analysis of p63 gene showed a heterozygous mutation c.728G>A, p.Arg243Gln (previously referred to as R204Q) in the patient, but not in his parents. Therefore, this was a sporadic case of the p63 mutation–associated disorder. Although the mutation has been mostly reported in EEC syndrome patients, the present case did not have cleft lip and palate. Furthermore, the present case did not exhibit freckling or some of the other ectodermal dysplasia phenotypes typical of ADULT syndrome. The concept of ELA syndrome proposed by Prontera in 2011 resolves the problem confronted in diagnosing the present case. ELA syndrome is an acronym of EEC/limb–mammary syndrome/ADULT syndromes, and these 3 syndromes are united into a unique entity. This system can classify p63 mutation–associated disorders simply without interfering with treatment. PMID:28293528

  7. 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.

  8. [Stiff baby syndrome is a rare cause of neonatal hypertonicity].

    Science.gov (United States)

    Rønne, Maria Sode; Nielsen, Preben Berg; Mogensen, Christian Backer

    2014-02-24

    Stiff baby syndrome (hyperekplexia) is a rare genetic disorder. The condition can easily be misdiagnosed as epilepsy or severe sepsis because of hypertonicity and seizure-like episodes and has an increased risk of severe apnoea and sudden infant death. Tapping of the nasal bridge inducing a startle response is the clinical hallmark. We report cases of two sisters born with stiff baby syndrome with hypertonicity, exaggerated startle reaction and cyanosis. The syndrome has a good prognosis if treated with clonazepam and both cases were developmental normal after one year.

  9. 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.

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

    Directory of Open Access Journals (Sweden)

    Mazhar Müslüm Tuna

    2014-09-01

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

  11. Blind loop syndrome: an unusual cause of panniculitis.

    Science.gov (United States)

    Caux, F; Halimi, C; Kevorkian, J P; Pinquier, L; Dubertret, L; Segrestaa, J M

    1997-11-01

    We describe a 52-year-old woman with panniculitis and blind loop syndrome. She had undergone a gastrectomy for peptic ulcer 4 years before. Tender erythematous nodules on her palms and soles were associated with diarrhea and weight loss. A biopsy specimen revealed septal and lobular panniculitis. A glucose hydrogen breath test was consistent with bacterial overgrowth. These results were consistent with panniculitis associated with a blind loop syndrome. Only four cases of this association have been reported previously.

  12. Transdiaphragnatic exposure for direct atrioatrial anastomosis in liver transplantation

    Institute of Scientific and Technical Information of China (English)

    CHEN Zhe-yu; YAN Lü-nan; ZENG Yong; WEN Tian-fu; LI Bo; ZHAO Ji-chun; WANG Wen-tao; YANG Jia-yin; XU Ming-qing

    2010-01-01

    Background Liver transplantation in Budd-Chiari syndrome remains controversial; however, some improved techniques lead to better results. We report medium-term follow-up results of liver transplantation with atrioatrial anastomosis for Budd-Chiari syndrome and explore the indications of liver transplantation with atrioatrial anastomosis for patients with end stage liver disease.Methods Nine patients (six Budd-Chiari syndromes, one end stage hepatolithiasis, one hepatocellular carcinoma and one incurable alveolar echinococcosis) underwent liver transplantation with atrioatrial anastomosis in West China Hospital of Sichuan University from 1999 to 2006. Eight liver transplants used cadaveric orthotopic livers and one a living donor liver. The operative technique was transdiaphragmatic exposure for direct atrioatrial anastomosis and replacement of inferior vena cava by cryopreserved vena cava graft with the help of venovenous bypass.Results All liver transplantations were successful. Two patients contracted pulmonary infection and acute rejection took place in another case. With proper treatment, all patients recovered well and had good quality of life. To date, they have been followed up for more than 24 months. The only death followed recurrence of hepatic carcinoma three years after liver transplantation.Conclusions Transdiaphragmatic exposure for direct atrioatrial anastomosis and the cryopreserved vena cava graftreplacement of inferior vena cava are possible for patients with end stage liver disease thus extending the indications of liver transplantation.

  13. Unusual Cause of Horner Syndrome 13 Years After In Situ Ductal Carcinoma.

    Science.gov (United States)

    Zhou, Di; Ibrahim, Mohannad; Malach, Daniel; Tomsak, Robert L

    2016-06-01

    Horner syndrome can be caused by a wide range of pathologies along the sympathetic nerve chain, from the hypothalamus to the orbit. Imaging workup of Horner syndrome is necessary given the potential for deadly lesions, especially in a patient with a previous cancer history. The authors report a case of a woman who presented with a preganglionic Horner syndrome secondary to vertebral metastasis from previously diagnosed breast cancer that involved the neural foramina at T1 and T2.

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

    Directory of Open Access Journals (Sweden)

    Musso CG

    2007-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Massimo Politi

    2009-01-01

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

  16. [Pellegrini-Stieda syndrome as a cause of knee pain].

    Science.gov (United States)

    Santos Sánchez, J A; Ramos Pascua, L R; García Casado, D; Bermúdez López, C

    2012-01-01

    Calcification in the soft tissue next to the medial femoral condyle after a history of trauma around the knee is a recognized radiographic finding-PS (Pellegrini-Stieda) sign. When this is associated with pain and a restricted range of motion it is known as the PS syndrome. We describe two cases of PS syndrome, treated conservatively with rest and physiotherapy, as well as the radiographic and ultrasound findings, and the many theories proposed in attempts to explain the pathogenesis of PS disease.

  17. [Sneddon syndrome: a rare cause of vascular dementia].

    Science.gov (United States)

    Lavernhe, S; Richard, A; Varvat, J; Garnier, P; Dirson, S; Thomas-Antérion, C

    2013-02-01

    Few vascular dementias are diagnosed in memory clinic consultations. One type, a rare etiology, Sneddon syndrome, can lead patients to consult for an isolated memory complaint. We report the cases of two patients, aged 63 and 66 years, who presented frontocortical cognitive profile and behavior disorders. Seronegative Sneddon syndrome, complicated with dementia, was diagnosed in each case by noticing an association between, on MRI, an atrophy and several ischemic cerebrovascular accident aftermaths, and a livedo racemosa. Management of vascular risks factors improves the prognosis.

  18. Prevalence and causes of back pain syndromes in children

    OpenAIRE

    Smirnova, A. A.; O.L. Lapochkin; M.A. Lobov; M.N. Borisova

    2014-01-01

    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 ...

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

    Science.gov (United States)

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

    2011-01-01

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

  20. KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

    NARCIS (Netherlands)

    A. Putoux; S. Thomas; K.L.M. Coene; E.E. Davis; Y. Alanay; G. Ogur; E. Uz; D. Buzas; C. Gomes; S. Patrier; C.L. Bennett; N. Elkhartoufi; M.-H. Saint Frison; L. Rigonnot; N. Joye; S. Pruvost; G.E. Utine; K. Boduroglu; P. Nitschke; L. Fertitta; C. Thauvin-Robinet; A. Munnich; V. Cormier-Daire; R. Hennekam; E. Colin; N.A. Akarsu; C. Bole-Feysot; N. Cagnard; A. Schmitt; N. Goudin; S. Lyonnet; F. Encha-Razavi; J.P. Siffroi; M. Winey; N. Katsanis; M. Gonzales; M. Vekemans; P.L. Beales; T. Attie-Bitach

    2011-01-01

    KIF7, the human ortholog of Drosophila Costal2, is a key component of the Hedgehog signaling pathway. Here we report mutations in KIF7 in individuals with hydrolethalus and acrocallosal syndromes, two multiple malformation disorders with overlapping features that include polydactyly, brain abnormali

  1. Blastomyces gilchristii as Cause of Fatal Acute Respiratory Distress Syndrome.

    Science.gov (United States)

    Dalcin, Daniel; Rothstein, Aaron; Spinato, Joanna; Escott, Nicholas; Kus, Julianne V

    2016-02-01

    Since the 2013 description of Blastomyces gilchristii, research describing the virulence or clinical outcome of B. gilchristii infection has been lacking. We report molecular evidence of B. gilchristii as an etiologic agent of fatal acute respiratory distress syndrome. B. gilchristii infection was confirmed by PCR and sequence analysis.

  2. Staphylococcal Toxic Shock Syndrome Caused by Tampon Use

    Directory of Open Access Journals (Sweden)

    Cian McDermott

    2015-01-01

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

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

    Science.gov (United States)

    Two sibling barrows were identified in the USMARC swine herd that died from apparent symptoms of a stress syndrome after transport to a research location at 12 weeks of age. The symptoms included open-mouth breathing, skin discoloration, vocalization and loss of mobility. The original mating was rep...

  4. Autoimmune lymphoproliferative syndrome (ALPS): a rare cause of immune cytopenia.

    Science.gov (United States)

    John, M Joseph; Rajasekhar, Reena; Mathews, Vikram

    2008-02-01

    Autoimmune Lymphoproliferative syndrome (ALPS) is an inherited disorder manifesting with autoimmune cytopenia, lymphadenopathy and splenomegaly. The differential diagnosis includes infections, autoimmune disorders or malignancies. The disease is characterized by accumulation of double negative (CD3+ CD4- CD8-) T cells (DNT) in the peripheral blood. We describe a case and review the literature.

  5. Plummer-Vinson syndrome: an unusual cause of dysphagia.

    Science.gov (United States)

    Ganesh, R; Janakiraman, L; Sathiyasekaran, M

    2008-06-01

    Plummer-Vinson syndrome, comprising a triad of dysphagia, iron deficiency anaemia and cricoid webs, is rarely reported in children. It is important to identify this condition not only to provide relief of symptoms by iron supplementation but also to include these children in surveillance programmes for oesophageal squamous cell carcinoma.

  6. Gerstmann's syndrome: can cardiac myxoma be the cause?

    Science.gov (United States)

    Sakellaridis, Timothy; Argiriou, Michalis; Koukis, Ioannis; Panagiotakopoulos, Vicror; Spiliotopoulos, Constantinos; Dimakopoulou, Antonia; Charitos, Christos

    2008-01-01

    Cardiac myxomas are primary cardiac tumours. Clinical presentations vary. Central nervous embolism has been a constant association. We describe a case of a 40-year-old female who presented with neurological signs and symptoms of Gerstmann's syndrome secondary to a left atrial myxoma.

  7. [A case of sustained cholestasis caused by acute A viral hepatitis in Dubin-Johnson syndrome].

    Science.gov (United States)

    Ra, Sang Ho; Sung, Se Yong; Jung, Ho Yeon; Cha, Jae Hwang; Baik, Soon Koo; Cho, Mee Yon; Kim, Moon Young

    2012-04-01

    Dubin-Johnson syndrome is a rare clinical entity. It shows intermittent symptoms such as chronic or intermittent jaundice, abdominal pain, weakness, nausea, vomiting, anorexia and diarrhea. Symptoms are precipitated or aggravated by pregnancy, alcoholism, surgical procedures and intercurrent disease. Chronic idiopathic jaundice is typical of Dubin-Johnson syndrome and its prognosis is good. We describe a case of prolonged cholestasis for more than 10 months caused by acute A viral hepatitis in a patient with Dubin-Johnson syndrome. It is a first report of cholestasis complicated by acute A viral hepatitis in a patient with Dubin-Johnson syndrome.

  8. Cervical Disc Herniation Causing Brown-Séquard's Syndrome: A Case Report and Literature Review.

    Science.gov (United States)

    Rustagi, Tarush; Badve, Siddharth; Maniar, Hemil; Parekh, Aseem N

    2011-01-01

    Brown-Séquard's syndrome (BSS) is caused by hemisection or hemicompression of the cord leading to ipsilateral motor deficit and contralateral sensory loss. Cervical disc herniation has been reported to be a rare cause of Brown-Séquard's syndrome. We describe a rare case of multilevel cervical disc herniation presenting as BSS. The condition was confirmed by MRI scan. Cervical corpectomy, decompression, and fusion gave a satisfying result. Pertinent literature has been reviewed.

  9. Cervical Disc Herniation Causing Brown-Séquard's Syndrome: A Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    Tarush Rustagi

    2011-01-01

    Full Text Available Brown-Séquard's syndrome (BSS is caused by hemisection or hemicompression of the cord leading to ipsilateral motor deficit and contralateral sensory loss. Cervical disc herniation has been reported to be a rare cause of Brown-Séquard's syndrome. We describe a rare case of multilevel cervical disc herniation presenting as BSS. The condition was confirmed by MRI scan. Cervical corpectomy, decompression, and fusion gave a satisfying result. Pertinent literature has been reviewed.

  10. Cervical Disc Herniation Causing Brown-Séquard's Syndrome: A Case Report and Literature Review

    Science.gov (United States)

    Rustagi, Tarush; Badve, Siddharth; Maniar, Hemil; Parekh, Aseem N.

    2011-01-01

    Brown-Séquard's syndrome (BSS) is caused by hemisection or hemicompression of the cord leading to ipsilateral motor deficit and contralateral sensory loss. Cervical disc herniation has been reported to be a rare cause of Brown-Séquard's syndrome. We describe a rare case of multilevel cervical disc herniation presenting as BSS. The condition was confirmed by MRI scan. Cervical corpectomy, decompression, and fusion gave a satisfying result. Pertinent literature has been reviewed. PMID:23259105

  11. Fulminant infection and toxic shock syndrome caused by Streptococcus pyogenes.

    Science.gov (United States)

    Fox, Kevin L; Born, Michael W; Cohen, Merrill A

    2002-05-01

    Two patients presented to the Emergency Department (ED) with features of toxic shock syndrome, including hypotension, acute respiratory distress syndrome (ARDS), renal and hepatic insufficiency and disseminated intravascular coagulation (DIC). Computed tomography (CT) scan identified the source of infection in one patient. At laparotomy, pelvic peritonitis and massive edema of the pelvic retroperitoneal tissue was found. The other patient had myonecrosis of the forearm necessitating amputation. Intra-operative cultures of tissue in each case yielded Streptococcus pyogenes, Group A. These patients were treated early with clindamycin and intensive supportive care as well as surgery, and both made a full recovery. Because of the necessity of early recognition of the varied presentation of these infections, the clinical features as well as essential interventions are emphasized. We review the pathophysiology of invasive Group A streptococcal infection to increase awareness of these uncommon but fulminant and often lethal infections.

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

    OpenAIRE

    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 ...

  13. Delineation of a clinical syndrome caused by mosaic trisomy 15

    Energy Technology Data Exchange (ETDEWEB)

    Buehler, E.M.; Bienz, G.; Straumann, E.; Bosceh, N. [Univ. Children`s Hospital, Basel (Switzerland)

    1996-03-15

    We report on a boy with mosaic trisomy 15. The clinical manifestations are compared with those of the few cases reported up to now. A clinical syndrome is delineated consisting of a characteristic shape of the nose and other minor craniofacial anomalies, as well as typical deformities of the hands and feet. Different degrees of mosaicism may explain the more or less severe manifestations in individual patients. 10 refs., 4 figs., 1 tab.

  14. Piriformis syndrome surgery causing severe sciatic nerve injury.

    Science.gov (United States)

    Justice, Phillip E; Katirji, Bashar; Preston, David C; Grossman, Gerald E

    2012-09-01

    Piriformis syndrome is a controversial entrapment neuropathy in which the sciatic nerve is thought to be compressed by the piriformis muscle. Two patients developed severe left sciatic neuropathy after piriformis muscle release. One had a total sciatic nerve lesion, whereas the second had a predominantly high common peroneal nerve lesion. Follow-up studies showed reinnervation of the hamstrings only. We conclude that piriformis muscle surgery may be hazardous and result in devastating sciatic nerve injury.

  15. Therapeutic Management of Hypothenar Hammer Syndrome Causing Ulnar Nerve Entrapment

    OpenAIRE

    2010-01-01

    Introduction. The hypothenar hammer syndrome is a rare traumatic vascular disease of the hand. Method and Materials. We report the case of a 43-years-old man with a painful tumefaction of the left hypothenar region. The ulnar artery appeared thrombosed clinically and radiologically. The patient underwent surgery to resolve the ulnar nerve compression and revascularise the artery. Results. The symptoms disappeared immediately after surgery. The arterial flow was reestablished. Postoperatively ...

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2006-12-15

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

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

    Directory of Open Access Journals (Sweden)

    Seyitali Gumustas

    2014-04-01

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

  18. Assessment of bleeding disorders in Sheehan's syndrome: are bleeding disorders the underlying cause of Sheehan's syndrome?

    Science.gov (United States)

    Gokalp, Deniz; Tuzcu, Alpaslan; Bahceci, Mithat; Ayyildiz, Orhan; Erdemoglu, Mahmut; Alpagat, Gulistan

    2011-01-01

    Sheehan's syndrome (SS) is an adenopituitary insufficiency caused by hypovolemia secondary to excessive blood loss during or after childbirth. However, the mechanism of postpartum hemorrhage and ischemia is not clear. We aimed to evaluate the bleeding disorders among patients with SS, in comparison with healthy controls. In addition, we investigated underlying causes in postpartum hemorrhage that begin the event. The present study was conducted at the Dicle University School of Medicine. Forty-eight patients with SS and 50 age-matched female healthy controls were included. Biochemical and hormonal variables were measured, as was platelet function by means of closure times (PFA-100 testing using collagen plus epinephrine and collagen plus ADP), von Willebrand factor (vWF) level, prothrombin time (PT), activated partial thromboplastin time (aPTT), international normalized ratio (INR), and coagulation factors. Although PT and INR were significantly higher in patients with SS (both P<0.01), aPTT and levels of fibrinogen, vWF, and factors II, V, VII, VIII, IX, X, XI, and XII did not differ significantly. Closure times with collagen/epinephrine and collagen/ADP also did not differ significantly between patients with SS and control patients. The nonspecific etiology and presence of excessive postpartum hemorrhage in patients with SS suggest that coagulation disorders may play a role in their predisposition to bleeding. The increased PT and INR noted might implicate bleeding diathesis as the underlying etiology, although no significant decreases were noted in factor levels. Further studies are needed to elucidate this complex mechanism of this disorder.

  19. Gastric sarcoidosis mimicking irritable bowel syndrome-Cause not association?

    Institute of Scientific and Technical Information of China (English)

    John Samuel Leeds; Mark Edward McAlindon; Eleanor Lorenz; Asha Kumari Dube; David Surendran Sanders

    2006-01-01

    Sarcoidosis is a systemic disease of unknown aetiology that may affect any organ in the body. The gastrointestinal tract however is only rarely affected outside the liver. Symptoms may be non-specific.Irritable bowel syndrome (IBS) is a common diagnosis.The recognition of TBS is aided by the use of the Rome Ⅱ criteria - in the absence of organic disease. We describe the first case of a patient with gastric sarcoidosis who presented with IBS symptoms but subsequently responded to immunosuppressive therapy.

  20. Atypicality in presentation of neuroleptic malignant syndrome caused by olanzapine

    Directory of Open Access Journals (Sweden)

    Mishra Biswaranjan

    2007-10-01

    Full Text Available Neuroleptic malignant syndrome (NMS is the most serious of acute neurological side effects produced by antipsychotic medication, characterized by hyperthermia, rigidity, altered consciousness and autonomic dysfunction, the prevalence of which varies from 0.4-1.4%. NMS is usually seen in treatment with high potency typical antipsychotics and very rarely with atypical antipsychotics. However, NMS cases have been reported with risperidone, clozapine, olanzapine and quetiapine. The presentations of NMS have often varied, and we report another atypicality in presentation of NMS due to olanzapine use.

  1. 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.

  2. A RARE CAUSE OF RESISTANT SEIZURES: DYKE DAVIDOFF MASSON SYNDROME

    Directory of Open Access Journals (Sweden)

    Biswadev Basu

    2013-11-01

    Full Text Available ABSTRACT : Dyke – Davidoff – Masson Syndrome (DDMS, is a rare clinical condition characterized by clinical triad of seizures, contralateral spastic hemiplegia or hemiparesis, with or without mental retardation. Diagnosis requires presence of cerebral hemiatrophy with homolateral hypertrophy of the skull and sinuses on brain imaging. Here we report a case of DDMS in a 16 year old girl who presented with seizures and hemiparesis.MRI of her brain showed hemiatrophy involving the left cerebral hemisphere with enlargement of ipsilateral sinuses and ventricles

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

    Science.gov (United States)

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

    2009-01-01

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

  4. PFAPA syndrome: a rare cause of periodic fever.

    Science.gov (United States)

    Kurtaran, Hanifi; Karadağ, Ahmet; Catal, Ferhat; Aktaş, Davut

    2004-01-01

    PFAPA syndrome (periodic fever, aphthous stomatitis, pharyngitis, adenopathy) is characterized by abrupt onset of fever, malaise, aphthous stomatitis, tonsillitis, pharyngitis and cervical adenopathy. The age of onset of the disease is four years, with a range of 6 months to 7 years. The syndrome is sporadic and nonhereditary. Long-term sequelae do not develop. A nine- year-old boy presented with sore throat, fever and oral aphthae. After taking a throat culture, he was prescribed oral antipyretic and was called for a follow-up visit the next day. As the culture result was negative, he was given a single dose prednisolone with the suspected diagnosis of PFAPA. Twenty-four hours later his temperature was 36.8 degrees C, with all his complaints regressed. Twenty-two days later the patient was again admitted to our hospital with the same complaints. Again, single dose oral prednisolone was given after a throat culture. On the next day the patient was free of all symptoms and the culture was again normal. To our knowledge this is the first PFAPA case report from Turkey in the literature.

  5. Early repolarization syndrome: A cause of sudden cardiac death

    Institute of Scientific and Technical Information of China (English)

    Abdi; Ali; Nida; Butt; Azeem; S; Sheikh

    2015-01-01

    Early repolarization syndrome(ERS), demonstrated as J-point elevation on an electrocardiograph, was formerly thought to be a benign entity, but the recent studies have demonstrated that it can be linked to a considerable risk of life- threatening arrhythmias and sudden cardiac death(SCD). Early repolarization characteristics associated with SCD include high-amplitude J-point elevation, horizontal and/or downslopping ST segments, and inferior and/or lateral leads location. The prevalence of ERS varies between 3% and 24%, depending on age, sex and J-point elevation(0.05 m V vs 0.1 m V) being the main determinants.ERS patients are sporadic and they are at a higher risk of having recurrent cardiac events. Implantable cardioverter-defibrillator implantation and isoproterenol are the suggested therapies in this set of patients. On the other hand, asymptomatic patients with ERS are common and have a better prognosis. The risk stratification in asymptomatic patients with ERS still remains a grey area. This review provides an outline of the up-to-date evidence associated with ERS and the risk of life- threatening arrhythmias. Further prospective studies are required to elucidate the mechanisms of ventricular arrhythmogenesis in patients with ERS.

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

    Directory of Open Access Journals (Sweden)

    Nonneman Dan J

    2012-06-01

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

  7. MEIG’S SYNDROME: A CAUSE OF DIAGNOSTIC DILEMMA

    Directory of Open Access Journals (Sweden)

    Rooplekha

    2014-10-01

    Full Text Available A postmenopausal 50yrs old para3 presented with abdominal pain and distension; decreased appetite and breathlessness. She was provisionally diagnosed as malignant ovarian tumor with secondaries. On USG 16x14 cm size well defined heterogeneous mass lesion was seen in left adnexa with internal vascularity; mild ascitis; right sided pleural effusion. MRI abdomen and pelvis showed large 19.1 x 12.7 cm mass with multiple septations and peripheral nodules. USG guided FNAC showed scanty inflammatory cells with proteinaceous fluid background, malignant cells were not seen. Pleural and ascitic fluid tap showed inflammatory and mesothelial cell but no malignant cell. Clinical and investigation profile suggest the Meigs’s syndrome. Left side salpingo-ovariectomy done and the desired section were sent for histomorphological evaluation. Histology reported ovarian fibroma and thus confirm the diagnosis.

  8. Fetal alcohol syndromecauses, diagnostic criteria and prevalence

    Directory of Open Access Journals (Sweden)

    Agata Horecka-Lewitowicz

    2014-04-01

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

  9. Piriformis syndrome--a rare cause of extraspinal sciatica.

    Science.gov (United States)

    Arooj, Shumaila; Azeemuddin, Muhammad

    2014-08-01

    Piriformis syndrome is a rare entity resulting in severe unilateral isolated buttock pain shooting in nature, non discogenic in origin. MR imaging of pelvis plays an important role in such patients to see the normal anatomy of piriformis muscle and its relationship with sciatic nerve. A 35-year-old woman presented with one year history of radiating leg pain with normal MR lumbosacral spine. MRI pelvis showed an abnormal orientation of left sciatic nerve through cleaved fibers of the piriformis muscle. The patient's symptoms were relieved by surgical decompression. The purpose of this case report is to show the role and importance of MR imaging for tracing sciatic nerve and its relationship to the Piriformis muscle. MR imaging of pelvis for sciatic nerve plays an important role in symptomatic patients with isolated buttock pain having normal MRI lumbosacral spine.

  10. Lynch Syndrome Caused by Germline PMS2 Mutations

    DEFF Research Database (Denmark)

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

    2015-01-01

    . 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......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...... years, and there was a significant difference in mean age of CRC between the probands (mean, 47 years; range, 26 to 68 years) and other family members with a PMS2 mutation (mean, 58 years; range, 31 to 86 years; P

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

    Directory of Open Access Journals (Sweden)

    Gonca Meriç

    2011-11-01

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

  12. Primary bimorphic adrenocortical disease: cause of hypercortisolism in McCune-Albright syndrome.

    Science.gov (United States)

    Carney, J Aidan; Young, William F; Stratakis, Constantine A

    2011-09-01

    McCune-Albright syndrome (polyostotic fibrous dysplasia, café-au-lait skin spots, and precocious puberty) is a genetically mosaic disorder with populations of mutant and normal cells in affected organs. Cushing syndrome, a rare feature of the condition, usually affects infants and is the result of corticotropin-independent primary bilateral adrenal disease, usually interpreted as nodular adrenocortical hyperplasia. In this study of 9 patients with Cushing syndrome and McCune-Albright syndrome, light microscopy revealed a characteristic bimorphic pattern of diffuse and nodular hyperplasia and a distinctive form of cortical atrophy with apparent zona glomerulosa hyperplasia in 8 patients, all very young. The pattern could be explained by the presence of a mosaic distribution of mutant and normal cells in the adrenal glands. The findings are different from those in inherited or other forms of genetically caused Cushing syndrome. The ninth patient, aged 17 years, had an adrenal adenoma and diffuse cortical hyperplasia in each adrenal gland.

  13. Case study: Gluteal compartment syndrome as a cause of lumbosacral radiculoplexopathy and complex regional pain syndrome.

    Science.gov (United States)

    Lederman, Andrew; Turk, David; Howard, Antonio; Reddy, Srinivas; Stern, Michelle

    2016-01-01

    We present the case of a 24 yr old male who was diagnosed with gluteal compartment syndrome and was subsequently found to have developed lumbosacral radiculoplexopathy and complex regional pain syndrome. The patient's gluteal compartment syndrome was diagnosed within 24 h of presentation to the emergency room, and he underwent emergent compartment release. While recovering postoperatively, persistent weakness was noted in the right lower limb. Results of electrodiagnostic testing were consistent with a lumbosacral radiculoplexopathy. After admission to inpatient rehabilitation, the patient complained of pain, burning sensation, and numbness in the distal right lower limb. Based on clinical findings, he was diagnosed with complex regional pain syndrome type II, or causalgia, and was referred for a lumbar sympathetic block under fluoroscopic guidance. Sympathetic block resulted in relief of the patient's symptoms. He was discharged home with good pain control on oral medications.

  14. 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 d

  15. Serotonin syndrome caused by fentanyl and methadone in a burn injury.

    Science.gov (United States)

    Hillman, Ashley D; Witenko, Corey J; Sultan, Said M; Gala, Gary

    2015-01-01

    Serotonin syndrome is a syndrome identified by a triad of altered mental status, neuromuscular overactivity, and autonomic instability caused by the overstimulation of serotonin in the central nervous system and periphery. Serotonin syndrome may be provoked with the addition or increase in serotonergic agents such as selective serotonin reuptake inhibitors, serotonin norepinephrine reuptake inhibitors, tricyclic antidepressants, and monoamine oxidase inhibitors as well as other agents with serotonergic properties. Some narcotics, including fentanyl and methadone, have these properties and may be associated with the development of serotonin syndrome when used in conjunction with other agents. Currently, there are no identified case reports of narcotics as the sole agent causing serotonin syndrome. This report provides a brief overview of serotonin syndrome, particularly with cases involving administration of narcotics such as fentanyl and methadone. The case described is the first report associated with fentanyl and methadone without the coadministration of other serotonergic agents, and a possible drug interaction with voriconazole is discussed. This raises awareness of using multiple serotonergic narcotics and the potential precipitation of serotonin syndrome.

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

    Directory of Open Access Journals (Sweden)

    Jay Ching Chieh Wang, MD

    2014-06-01

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

  17. Laugier-hunziker syndrome: an uncommon cause of oral pigmentation and a review of the literature.

    Science.gov (United States)

    Montebugnoli, Lucio; Grelli, Ivana; Cervellati, Fabio; Misciali, Cosimo; Raone, Beatrice

    2010-01-01

    Laugier-Hunziker syndrome is a rare benign condition characterized by diffuse oral hyperpigmentation associated with pigmentation of the nails. The syndrome must be included in the differential diagnosis of diffuse oral pigmentation to exclude other conditions with systemic implications. We describe a 43-year-old white woman with the clinical and histological features of Laugier-Hunziker syndrome associated with toenail pigmentation. The correct clinical identification avoids the need for detailed investigations and treatment. We also review the potential causes of oral pigmentation.

  18. Laugier-Hunziker Syndrome: An Uncommon Cause of Oral Pigmentation and a Review of the Literature

    Directory of Open Access Journals (Sweden)

    Lucio Montebugnoli

    2010-01-01

    Full Text Available Laugier-Hunziker syndrome is a rare benign condition characterized by diffuse oral hyperpigmentation associated with pigmentation of the nails. The syndrome must be included in the differential diagnosis of diffuse oral pigmentation to exclude other conditions with systemic implications. We describe a 43-year-old white woman with the clinical and histological features of Laugier-Hunziker syndrome associated with toenail pigmentation. The correct clinical identification avoids the need for detailed investigations and treatment. We also review the potential causes of oral pigmentation.

  19. Serotonin syndrome caused by minimum doses of SSRIS in a patient with spinal cord injury

    OpenAIRE

    Satoh, Koichiro; Takano, Shizuko; Onogi, Takashi; Ohtsuki, Koji; Kobayashi, Toshio

    2006-01-01

    There have been only a few reports of serotonin syndrome developing after mono-therapy with a selective serotonin reuptake inhibitor (SSRI). We report a case of serotonin syndrome caused by long-term therapy with fluvoxamine prior to treatment with paroxetine. An 18-year-old man with spinal cord injury (SCI) at thoracic level 2-3 presented with onset of serotonin syndrome after taking fluvoxamine (50 mg per day) for 8 weeks prior to treatment with paroxetine (10 mg per day) for 6 days. He had...

  20. Pyridoxine for Prevention of Hand-Foot Syndrome Caused by Chemotherapy: A Systematic Review

    OpenAIRE

    2013-01-01

    BACKGROUND: Hand-foot syndrome (HFS) is a relatively frequent dermatologic toxic reaction to certain anti-cancer chemotherapies. The syndrome can evolve into a distressing condition that limits function and affects quality of life. Pyridoxine (vitamin B6) has been used empirically for the prevention of HFS caused by anti-cancer therapy. However, evidence of its efficacy remains controversial. METHODOLOGY//PRINCIPAL FINDINGS: Systematic literature searches were conducted on the Cochrane Librar...

  1. Vascular compression syndrome of sciatic nerve caused by gluteal varicosities.

    Science.gov (United States)

    Hu, Ming-Hsiao; Wu, Kuan-Wen; Jian, Yu-Ming; Wang, Chen-Ti; Wu, I-Hui; Yang, Shu-Hua

    2010-11-01

    Sciatica is defined as pain or discomfort along the regions innervated by the sciatic nerve. Compression or irritation of lumbar spinal roots, most commonly because of lumbar disc herniation or spinal stenosis, causes sciatica in the vast majority of cases. Although it is rather uncommon, many pathologies have reported to cause nondiscogenic sciatica. A 70-year-old woman presented with intractable sciatic pain which was not elicited by posture change or cough. Sitting on the affected side provoked more pain than standing or walking. Magnetic resonance imaging revealed both spondylolisthesis with lumbar stenosis and compression of the gluteal portion of the sciatic nerve by varicotic gluteal veins. Given the atypical presentation of spinal root compression, gluteal vascular compressive neuropathy was suspected. Ligation and resection of varicotic vein resulted in relief of the patient's pain. To our knowledge, cases with varicosity-caused sciatica were limited in the literature review.

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

    Directory of Open Access Journals (Sweden)

    Sukanta

    2014-11-01

    Full Text Available 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 audible and there was decreased breath sound in the left infraclavicular area. Bronchoscopy revealed absence of movement of left vocal cord. His trans-thoracic echocardiography revealed degenerative aortic and mitral valve disease with mild aortic regurgitation and mild mitral regurgitation with dilated aortic aneurysm. A contrast enhanced CT scan of thorax and CT Angio Aortogram revealed fusiform aneurysmal dilatation of the arch of aorta with diameter of 6.2 cm over a length of 12.3 cm showing intraluminal partial thrombus with wall calcification. The patient was advised to undergo surgery. However, after detailed discussion with him and his family, they decided for medical management in view of his advanced age

  3. 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.

  4. Empty Follicle Syndrome: The Possible Cause of Occurrence

    Directory of Open Access Journals (Sweden)

    Tahereh Madani

    2015-11-01

    Full Text Available Objectives: Empty follicle syndrome (EFS, although rare, is a disappointing condition in which no oocytes are retrieved from mature follicle after ovulation induction in in vitro fertilization (IVF cycles. The aim of this study was to estimate the incidence and factors associated with EFS. Methods: All cycles resulting in EFS from May 2012 to September 2013 were retrospectively identified at a tertiary referral infertility center. Among the 3,356 cycles performed, 58 (1.7% women who underwent their first IVF cycle and had no oocyte retrieval were enrolled in the study. Three different stimulation protocols (long, antagonist, and miniflare were mainly used for induction of follicular growth. Data relating to the age, follicle stimulating hormone (FSH level, anti-Müllerain hormone (AMH level, and the number of ampules and follicles for each patient was obtained. Results: Out of 58 individuals, 10 (17.2% showed false type and 48 (82.8% showed genuine EFS. The most frequent findings in our study were diminished ovarian reserve, low anti-Müllerian hormone (AMH; ≤0.5 ng/mL, and less than four mature follicles, indicating EFS in 1.7% of the patients. Conclusion: Low serum AMH levels and a small number of follicles after ovarian stimulation is the manifestation of diminished ovarian reserve. Thus, we suggest that EFS could be a manifestation of low ovarian reserve.

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

    NARCIS (Netherlands)

    Vrieze, A; Postma, DS; Kerstjens, HAM

    2003-01-01

    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. Fluctua

  6. A giant trichobezoar causing rapunzel syndrome in a 12-year-old female

    Directory of Open Access Journals (Sweden)

    Nadeem Ul Nazeer Kawoosa

    2011-01-01

    Full Text Available Bezoar is a tightly packed collection of undigested material that is unable to exit the stomach. Most bezoars are of indigestible organic matter such as hair-trichobezoars; or vegetable and fruit-phytobezoars; or a combination of both. Trichobezoars commonly occur in patients with psychiatric disturbances who chew and swallow their own hair. In very rare cases, the Rapunzel syndrome hair extends through the pylorus into the small bowel causing symptom and sign of partial or complete gastric outlet obstruction. A case report of trichobezoar in the stomach causing Rapunzel syndrome in a 12-year-old female is reported.

  7. [Anastomotic false-diverticulum causing an atypical dumping syndrome. A case report].

    Science.gov (United States)

    Covarelli, P; Esperti, L; Fratto, A; Cerroni, M; Marianeschi, P; Cristofani, R

    2003-02-01

    Aim of the study is to evaluate the causes of dumping syndromes following partial gastrectomies, and to report an unusual feature of dumping. A case of early dumping due to diverticular-like dilation of gastro-jejunal anastomosis is described with preoperative imaging and intraoperative picture. The surgical correction led to complete clinical remission; the common causes and physiopathological bases of dumping are reviewed and the role of en-Y gastro-jejunal reconstruction is underlined in order to reduce the risk of developing the syndrome.

  8. Marfan syndrome caused by a novel FBN1 mutation with associated pigmentary glaucoma.

    Science.gov (United States)

    Kuchtey, John; Chang, Ta Chen; Panagis, Lampros; Kuchtey, Rachel W

    2013-04-01

    Mutations in fibrillin-1 (FBN1) cause a wide spectrum of disorders, including Marfan syndrome, which have in common defects in fibrillin-1 microfibrils. Ectopia lentis and myopia are frequently observed ocular manifestations of Marfan syndrome. Glaucoma is also associated with Marfan syndrome, though the form of glaucoma has not been well-characterized. In this report, ocular examination of a patient diagnosed with Marfan syndrome based on family history and aortic dilatation was performed, including measurement of facility of aqueous humor outflow by tonography. The patient did not have ectopia lentis at the age of 42 years. Based on optic nerve appearance, reduced outflow facility, elevated IOP with open angles and clear signs of pigment dispersion, the patient was diagnosed with pigmentary glaucoma. The patient was heterozygous for a novel truncating mutation in FBN1, p.Leu72Ter. Histology of normal human eyes revealed abundant expression of elastic fibers and fibrillin-1 in aqueous humor outflow structures. This is the first report of a patient with Marfan syndrome that is caused by a confirmed FBN1 mutation with associated pigmentary glaucoma. In addition to identifying a novel mutation of FBN1 and broadening the spectrum of associated ocular phenotypes in Marfan syndrome, our findings suggest that pigmentary glaucoma may involve defects in fibrillin-1 microfibrils.

  9. 阳虚生风论%Theory of Feng-Syndrome Caused by Yang Deficiency

    Institute of Scientific and Technical Information of China (English)

    潘远根

    2016-01-01

    The treatment of Feng-syndrome in TCM frequently focused on the wind syndromes caused by the strong hot, the hyperactivity of Yang, the Yin deficiency and the blood deficiency, but the Feng syndrome rarely deals with Yang deficiency. In this paper, we puts forward the Feng syndromes also caused by Yang deficiency and briefly discusses on it in the theory, the type of diseases and the syndrome differentiation, and then, to break down the syndrome differentiating keys with some clinical cases.%中医论风证的辨证治疗,向来仅注重火热、阳亢、阴虚、血虚等引起的风证,绝少论及阳虚动风。本文从阳虚生风的理论、病证类型、辨证要点等方面简要论述了阳虚阴盛同样引起动风证,并例举临床病例以详解辨证关键。

  10. The SAPHO syndrome in children: a rare cause of hyperostosis and osteitis.

    Science.gov (United States)

    Letts, M; Davidson, D; Birdi, N; Joseph, M

    1999-01-01

    The SAPHO syndrome is a rare constellation of signs and symptoms characterized by synovitis, acne, pustulosis, hyperostosis, and osteitis. The most common musculoskeletal complaints are hyperostosis, causing pain, tenderness, and swelling of the anterior chest wall, although any part of the axial and appendicular skeleton may be affected. There is a great degree of variability in the dermatologic involvement of this syndrome. A combination of clinical, radiographic, and pathological investigation is required to establish the correct diagnosis. No single treatment has been found to be effective, although nonsteroidal antiinflammatory drugs have been the most frequently used. Because there is no mention of SAPHO syndrome in the English orthopaedic literature, and pediatric orthopaedic surgeons may be the first caregivers to treat these children, we thought it appropriate to share our experience with a 5-year-old boy with SAPHO syndrome recently under our care.

  11. Diaphragm paralysis causing ventilatory failure in an adult with the rigid spine syndrome.

    Science.gov (United States)

    Efthimiou, J; McLelland, J; Round, J; Gribbin, H R; Loh, L; Spiro, S G

    1987-12-01

    A syndrome consisting of a rigid spine and myopathy predominantly affecting proximal limb muscles has been previously described in children, and as with most neuromuscular disorders, the respiratory muscles appear to be affected only at an advanced stage in the disease. We describe an adult male with this syndrome who presented with ventilatory failure caused by severe respiratory muscle weakness and who demonstrated profound nocturnal arterial oxygen desaturation, particularly during rapid eye movement sleep. Treatment with negative pressure ventilation initially resulted in only modest improvements in symptoms, blood gas tensions, and nocturnal desaturation. The cause of this only partial improvement was upper airway obstruction provoked by the mode of ventilatory support used. After tracheostomy there was a dramatic and sustained improvement in symptoms and blood gas tensions and complete abolition of nocturnal arterial oxygen desaturation. This is the first report of an adult with the rigid spine syndrome presenting with ventilatory failure and cor pulmonale due to severe respiratory muscle weakness.

  12. 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.

  13. 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....

  14. Radiologic follow-up of the transjugular intrahepatic stent-shunt (TIPSS); Radiologische Nachsorge des transjugulaeren intrahepatischen Stentshunts (TIPSS)

    Energy Technology Data Exchange (ETDEWEB)

    Hansmann, H.J.; Noeldge, G.; Leutloff, U.; Radeleff, B.; Richter, G.M. [Heidelberg Univ. (Germany). Abt. Radiodiagnostik; Sauer, P. [Heidelberg Univ. (DE). Abt. Innere Medizin 4 (Schwerpunkt Gastroenterologie)

    2001-10-01

    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.) [German] Der transjugulaere intrahepatische Stentshunt (TIPSS) ist eine etablierte minimal invasive Therapie der Komplikationen der portalen Hypertension (rezidivierende Varizenblutungen, therapierefraktaerer Aszites und das Leberversagen beim Budd-Chiari-Syndrom). Aufgrund einer hohen Rate von Traktstenosen und Verschluessen sind regelmaessige Kontrolluntersuchungen unabdingbar. Trotz moderner nichtinvasiver bildgebender Verfahren ist die transjugulaere Portographie mit Druckmessung der

  15. Acute forearm compressive myopathy syndrome secondary to upper limb entrapment: an unusual cause of renal failure.

    Science.gov (United States)

    Tachtsi, Maria D; Kalogirou, Thomas E; Atmatzidis, Stefanos K; Papadimitriou, Dimitrios K; Atmatzidis, Konstantinos S

    2011-05-01

    Compressive myopathy syndrome (SCM) is a syndrome characterized by the lesion of skeletal muscle resulting in subsequent release of intracellular contents (myoglobin, creatine phosphokinase, potassium, etc.) into the circulatory system, which can cause potentially lethal complications. There are numerous causes that can lead to SCM resulting to acute rhabdomyolysis, and many patients present with multiple causes. The most common potentially lethal complication is acute renal failure. The occurrence of acute rhabdomyolysis should be considered as a possibility in any patient who can remain stationary for long periods, or is in a coma, or is intoxicated in any form. We report the rare case of a 26-year-old patient who developed SCM caused by ischemia reperfusion, with subsequent acute rhabdomyolysis and acute renal failure after prolonged compression of the right upper extremity.

  16. Species determination of pine nuts in commercial samples causing pine nut syndrome

    DEFF Research Database (Denmark)

    Mikkelsen, Aase Æ.; Jessen, Flemming; Ballin, Nicolai Z.

    2014-01-01

    Consumption of pine nuts from the species of Pinus armandii has been reported to cause dysgeusia, commonly known as pine mouth, or pine nut syndrome (PNS). However, the number of reports on pine nut consumptions of the different species and PNS is limited. This leaves open the possibility...

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

    Science.gov (United States)

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

    2011-08-01

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

  18. 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; Bokenkamp, 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.

  19. OTORHINOLARYNGOLOGIC CAUSES OF CLAUDE-BERNARD-HÖRNER SYNDROME: THREE CASES REPORT

    Directory of Open Access Journals (Sweden)

    R. de la Fuente Cañibano

    2010-01-01

    Full Text Available The syndrome of Claude-Bernard-Hörner is caused by the sinpatical injury of thebranches ascending innervation of the stellate ganglion and the iris smooth muscle eyelid. His triad is the presence of ptosis, myosis and enoftalmos. It may be accompanied by anhidrosis, pupillary dilation heterocromía delayed in the congenital case.

  20. High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome

    NARCIS (Netherlands)

    de Kock, Leanne; Wang, Yu Chang; Revil, Timothée; Badescu, Dunarel; Rivera, Barbara; Sabbaghian, Nelly; Wu, Mona; Weber, Evan; Sandoval, Claudio; Hopman, Saskia M J; Merks, Johannes H M; van Hagen, Johanna M.; Bouts, Antonia H M; Plager, David A.; Ramasubramanian, Aparna; Forsmark, Linus; Doyle, Kristine L.; Toler, Tonja; Callahan, Janine; Engelenberg, Charlotte; Soglio, Dorothée Bouron Dal; Priest, John R.; Ragoussis, Jiannis; Foulkes, William D.

    2016-01-01

    Background Somatic mosaicism is being increasingly recognised as an important cause of non-Mendelian presentations of hereditary syndromes. A previous wholeexome sequencing study using DNA derived from peripheral blood identified mosaic mutations in DICER1 in two children with overgrowth and develop

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

    Science.gov (United States)

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

    2016-09-01

    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. coli and the resulting heteropathogenic strains.

  2. 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. Tre

  3. OTORHINOLARYNGOLOGIC CAUSES OF CLAUDE-BERNARD-HÖRNER SYNDROME: THREE CASES REPORT

    OpenAIRE

    R. de la Fuente Cañibano; A. Muñoz Herrera

    2010-01-01

    The syndrome of Claude-Bernard-Hörner is caused by the sinpatical injury of thebranches ascending innervation of the stellate ganglion and the iris smooth muscle eyelid. His triad is the presence of ptosis, myosis and enoftalmos. It may be accompanied by anhidrosis, pupillary dilation heterocromía delayed in the congenital case.

  4. Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome.

    Science.gov (United States)

    Kress, Wolfram; Schropp, Christian; Lieb, Gabriele; Petersen, Birgit; Büsse-Ratzka, Maria; Kunz, Jürgen; Reinhart, Edeltraut; Schäfer, Wolf-Dieter; Sold, Johanna; Hoppe, Florian; Pahnke, Jan; Trusen, Andreas; Sörensen, Niels; Krauss, Jürgen; Collmann, Hartmut

    2006-01-01

    The Saethre-Chotzen syndrome (SCS) is an autosomal dominant craniosynostosis syndrome with uni- or bilateral coronal synostosis and mild limb deformities. It is caused by loss-of-function mutations of the TWIST 1 gene. In an attempt to delineate functional features separating SCS from Muenke's syndrome, we screened patients presenting with coronal suture synostosis for mutations in the TWIST 1 gene, and for the Pro250Arg mutation in FGFR3. Within a total of 124 independent pedigrees, 39 (71 patients) were identified to carry 25 different mutations of TWIST 1 including 14 novel mutations, to which six whole gene deletions were added. The 71 patients were compared with 42 subjects from 24 pedigrees carrying the Pro250Arg mutation in FGFR3 and 65 subjects from 61 pedigrees without a detectable mutation. Classical SCS associated with a TWIST 1 mutation could be separated phenotypically from the Muenke phenotype on the basis of the following features: low-set frontal hairline, gross ptosis of eyelids, subnormal ear length, dilated parietal foramina, interdigital webbing, and hallux valgus or broad great toe with bifid distal phalanx. Functional differences were even more important: intracranial hypertension as a consequence of early progressive multisutural fusion was a significant problem in SCS only, while mental delay and sensorineural hearing loss were associated with the Muenke's syndrome. Contrary to previous reports, SCS patients with complete loss of one TWIST allele showed normal mental development.

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

    Science.gov (United States)

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

    2015-09-01

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

  6. 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.

  7. 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.

  8. "Sagging heart syndrome": a cause of acute lead dislodgment in two patients.

    Science.gov (United States)

    Iskos, D; Lurie, K G; Shultz, J J; Fabian, W H; Benditt, D G

    1999-02-01

    Acute passive fixation atrial lead dislodgment occurred due to an unexpected and marked postural descent of the heart after permanent pacemaker implantation in two patients. Sagging of the heart in these two individuals may have been related to a history of morbid obesity followed by weight loss of over 100 pounds. Lead replacement with active fixation leads was required in both cases. The term "sagging heart syndrome" is proposed to describe this clinical entity. In certain adult populations, such as in patients with a history of significant weight loss, the "sagging heart syndrome" may represent a previously unrecognized cause of acute lead dislodgment.

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

    Science.gov (United States)

    Sachdeva, Silonie; Sachdeva, Shabina; Kapoor, Pranav

    2011-01-01

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

  10. 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.

  11. 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.

  12. 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

    2016-01-01

    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. PMID:27330779

  13. Internal carotid dissection caused by an elongated styloid process (Eagle syndrome).

    Science.gov (United States)

    Sveinsson, Olafur; Kostulas, Nikolaos; Herrman, Lars

    2013-06-11

    Eagle syndrome (symptoms associated with an elongated styloid process (SP)) is commonly divided into two presentations. First, the so-called classic Eagle syndrome where patients can present with unilateral sore throat, dysphagia, tinnitus, unilateral facial and neck pain and otalgia. Second, there is the vascular or stylocarotid form of Eagle syndrome in which the elongated SP is in contact with the extracranial internal carotid artery. We describe two cases of internal carotid artery dissection associated with an elongated SP. One is a patient with ischaemic stroke and another with transient ischaemic attacks caused by an elongated SP. A surgical resection of the SP was performed on the former patient. Both patients were treated with anticoagulation and recovered well. A literature search only revealed two prior descriptions of carotid dissection in the context of an elongated SP.

  14. 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.

  15. 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.

  16. Dumping Syndrome

    Science.gov (United States)

    ... System & How it Works Digestive Diseases A-Z Dumping Syndrome What is dumping syndrome? Dumping syndrome occurs when food, especially sugar, ... the colon and rectum—and anus. What causes dumping syndrome? Dumping syndrome is caused by problems with ...

  17. The Haglund painful heel syndrome. Experimental investigation of cause and therapeutic implications.

    Science.gov (United States)

    Heneghan, M A; Pavlov, H

    1984-01-01

    Haglund syndrome, a common cause of pain in the posterior heel, consists of a painful swelling of the local soft tissues (the so-called pump bump) and prominence of the calcaneal bursal projection. The condition is caused by compression of the distal Achilles tendon and surrounding soft tissue between the os calcis and the posterior shoe counter. Osseous plantar projections appear to be a critical etiologic factor in Haglund syndrome. With an experimental model, it has been demonstrated that osseous projections on the plantar surface of the calcaneus adversely influence the bone-soft tissue relation of the posterior heel. Shoe heel elevation has been shown to be clinically effective in alleviating symptoms. It is demonstrated with an experimental model that elevation of the shoe heel decreases the pitch angle. This diminishes the prominence of the bursal projection and allows the foot to slip forward, displacing the posterior calcaneus away from the shoe counter.

  18. Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome.

    Science.gov (United States)

    Dikoglu, Esra; Simsek-Kiper, Pelin Ozlem; Utine, Gulen Eda; Campos-Xavier, Belinda; Boduroglu, Koray; Bonafé, Luisa; Superti-Furga, Andrea; Unger, Sheila

    2013-12-01

    Cousin syndrome, also called pelviscapular dysplasia (OMIM 260660), is characterized by short stature, craniofacial dysmorphism, and multiple skeletal anomalies. Following its description in two sibs in 1982, no new cases have been observed until the observation of two unrelated cases in 2008 who were homozygous for frameshift mutations in TBX15. We investigated an adult individual with short stature, a complex craniofacial dysmorphism, malformed and rotated ears, short neck, elbow contractures, hypoacusis, and hypoplasia of scapula and pelvis on radiographs. We identified homozygosity for a novel nonsense mutation (c.841C>T) in TBX15 predicted to cause a premature stop (p.Arg281*) with truncation of the protein. This observation confirms that Cousin syndrome is a consistent and clinically recognizable phenotype caused by loss of function of TBX15.

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

    Science.gov (United States)

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

    2013-06-01

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

  20. Imaging Diagnosis of Splanchnic Venous Thrombosis

    Directory of Open Access Journals (Sweden)

    S. Rajesh

    2015-01-01

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

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

    Science.gov (United States)

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

    2014-10-01

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

  2. Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.

    OpenAIRE

    Waterham, H. R.; Wijburg, F.A.; Hennekam, R. C.; Vreken, P; Poll-The, B T; Dorland, L.; Duran, M.; Jira, P.E.; Smeitink, J. A.; Wevers, R. A.; Wanders, R J

    1998-01-01

    Smith-Lemli-Opitz syndrome is a frequently occurring autosomal recessive developmental disorder characterized by facial dysmorphisms, mental retardation, and multiple congenital anomalies. Biochemically, the disorder is caused by deficient activity of 7-dehydrocholesterol reductase, which catalyzes the final step in the cholesterol-biosynthesis pathway-that is, the reduction of the Delta7 double bond of 7-dehydrocholesterol to produce cholesterol. We identified a partial transcript coding for...

  3. Intrauterine device infection causing concomitant streptococcal toxic shock syndrome and pelvic abscess with Actinomyces odontolyticus bacteraemia.

    Science.gov (United States)

    Wu, Carolyn M Yu; Noska, Amanda

    2016-03-10

    Intrauterine devices (IUDs) are rarely associated with serious infections. We report an unusual concomitant infection of group A Streptococcus (GAS) causing toxic shock syndrome and pelvic abscess with Actinomyces odontolyticus associated with an IUD in a healthy 50-year-old patient. The IUD was subsequently removed and the patient recovered on the appropriate antibiotics. This case highlights the importance of clinicians' high index of suspicion of an IUD infection and prompt removal of the infected foreign body to obtain source control.

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

    Science.gov (United States)

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

    2012-06-01

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

  6. PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy

    Science.gov (United States)

    Thauvin-Robinet, Christel; Auclair, Martine; Duplomb, Laurence; Caron-Debarle, Martine; Avila, Magali; St-Onge, Judith; Le Merrer, Martine; Le Luyer, Bernard; Héron, Delphine; Mathieu-Dramard, Michèle; Bitoun, Pierre; Petit, Jean-Michel; Odent, Sylvie; Amiel, Jeanne; Picot, Damien; Carmignac, Virginie; Thevenon, Julien; Callier, Patrick; Laville, Martine; Reznik, Yves; Fagour, Cédric; Nunes, Marie-Laure; Capeau, Jacqueline; Lascols, Olivier; Huet, Frédéric; Faivre, Laurence; Vigouroux, Corinne; Rivière, Jean-Baptiste

    2013-01-01

    Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome is a developmental disorder with an unknown genetic cause and hallmarks that include insulin resistance and lack of subcutaneous fat. We ascertained two unrelated individuals with SHORT syndrome, hypothesized that the observed phenotype was most likely due to de novo mutations in the same gene, and performed whole-exome sequencing in the two probands and their unaffected parents. We then confirmed our initial observations in four other subjects with SHORT syndrome from three families, as well as 14 unrelated subjects presenting with syndromic insulin resistance and/or generalized lipoatrophy associated with dysmorphic features and growth retardation. Overall, we identified in nine affected individuals from eight families de novo or inherited PIK3R1 mutations, including a mutational hotspot (c.1945C>T [p.Arg649Trp]) present in four families. PIK3R1 encodes the p85α, p55α, and p50α regulatory subunits of class IA phosphatidylinositol 3 kinases (PI3Ks), which are known to play a key role in insulin signaling. Functional data from fibroblasts derived from individuals with PIK3R1 mutations showed severe insulin resistance for both proximal and distal PI3K-dependent signaling. Our findings extend the genetic causes of severe insulin-resistance syndromes and provide important information with respect to the function of PIK3R1 in normal development and its role in human diseases, including growth delay, Rieger anomaly and other ocular affections, insulin resistance, diabetes, paucity of fat, and ovarian cysts. PMID:23810378

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

    Science.gov (United States)

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

    2016-04-01

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

  8. Acute urinary retention caused by seminoma in a case of persistent Mullerian duct syndrome

    Directory of Open Access Journals (Sweden)

    Jayesh Modi

    2015-01-01

    Full Text Available Urinary symptoms have been described secondary to a pelvic mass originating from the ovary, uterus, cervix, prostate, or rectum. Persistent Mullerian duct syndrome is a rare form of intersex disorder, characterized by the presence of uterus and fallopian tubes in an otherwise 46 XY male. We report an adult male with bilateral cryptorchidism and a pelvic mass, who presented with acute urinary retention, and was diagnosed with a seminoma of the right testis, intratubular germ cell neoplasia of the left testis with the presence of Mullerian remnants. Pelvic mass was caused due to seminoma is a rare cause of urinary retention.

  9. Sheehan's syndrome as a rare cause of anaemia secondary to hypopituitarism.

    Science.gov (United States)

    Gokalp, Deniz; Tuzcu, Alpaslan; Bahceci, Mithat; Arikan, Senay; Bahceci, Selen; Pasa, Semir

    2009-05-01

    Although its exact mechanism is unclear, anaemia is well recognised as a feature of hypopituitarism; and anaemia is associated with Sheehan's syndrome (SS). We aimed to evaluate the frequency and severity of anaemia and other haematological changes among patients with Sheehan's syndrome, in comparison with healthy controls. Sixty-five SS patients and 55 age-matched female healthy controls were included. Biochemical and hormonal assessments and haematological evaluations were carried out, and groups were compared. The mean number of red blood cells, as well as mean haemoglobin, iron and erythropoietin levels, total iron-binding capacity and transferrin saturation were all significantly lower in SS patients compared to controls. SS patients had significantly higher rates of anaemia (80.0% vs. 25.5%, p = 0.0001), iron deficiency (44.6% vs. 5.4%, p = 0.001), leukopenia (20.0% vs. 5.4%, p = 0.015), thrombocytopenia (9.2% vs. 0.0%, p = 0.028) and bicytopenia (21.5% vs. 1.8%, p = 0.001) compared to controls. Anaemic SS patients had normochromic-normocytic anaemia (55%) or hypochromic-microcytic anaemia (45%). Anaemia is frequently associated with Sheehan's syndrome and responds to appropriate replacement therapy. Hypopituitarism should be considered as a possible cause of anaemia, and a hormone examination should be undertaken promptly, particularly in patients with anaemia resistant to therapy and/or with a history suggestive of Sheehan's syndrome.

  10. 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.

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

    Science.gov (United States)

    2017-01-06

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

  12. Gram-positive bacterial superantigen outside-in signaling causes toxic shock syndrome.

    Science.gov (United States)

    Brosnahan, Amanda J; Schlievert, Patrick M

    2011-12-01

    Staphylococcus aureus and Streptococcus pyogenes (group A streptococci) are Gram-positive pathogens capable of producing a variety of bacterial exotoxins known as superantigens. Superantigens interact with antigen-presenting cells (APCs) and T cells to induce T cell proliferation and massive cytokine production, which leads to fever, rash, capillary leak and subsequent hypotension, the major symptoms of toxic shock syndrome. Both S. aureus and group A streptococci colonize mucosal surfaces, including the anterior nares and vagina for S. aureus, and the oropharynx and less commonly the vagina for group A streptococci. However, due to their abilities to secrete a variety of virulence factors, the organisms can also cause illnesses from the mucosa. This review provides an updated discussion of the biochemical and structural features of one group of secreted virulence factors, the staphylococcal and group A streptococcal superantigens, and their abilities to cause toxic shock syndrome from a mucosal surface. The main focus of this review, however, is the abilities of superantigens to induce cytokines and chemokines from epithelial cells, which has been linked to a dodecapeptide region that is relatively conserved among all superantigens and is distinct from the binding sites required for interactions with APCs and T cells. This phenomenon, termed outside-in signaling, acts to recruit adaptive immune cells to the submucosa, where the superantigens can then interact with those cells to initiate the final cytokine cascades that lead to toxic shock syndrome.

  13. 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.

  14. Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB.

    Science.gov (United States)

    Rauch, Frank; Fahiminiya, Somayyeh; Majewski, Jacek; Carrot-Zhang, Jian; Boudko, Sergei; Glorieux, Francis; Mort, John S; Bächinger, Hans-Peter; Moffatt, Pierre

    2015-03-05

    Cole-Carpenter syndrome is a severe bone fragility disorder that is characterized by frequent fractures, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features. To identify the cause of Cole-Carpenter syndrome in the two individuals whose clinical results were presented in the original description of this disorder, we performed whole-exome sequencing of genomic DNA samples from both individuals. The two unrelated individuals had the same heterozygous missense mutation in exon 9 of P4HB (NM_000918.3: c.1178A>G [p.Tyr393Cys]), the gene that encodes protein disulfide isomerase (PDI). In one individual, the P4HB mutation had arisen de novo, whereas in the other the mutation was transmitted from the clinically unaffected father who was a mosaic carrier of the variant. The mutation was located in the C-terminal disulfide isomerase domain of PDI, sterically close to the enzymatic center, and affected disulfide isomerase activity in vitro. Skin fibroblasts showed signs of increased endoplasmic reticulum stress, but despite the reported importance of PDI for collagen type I production, the rate of collagen type I secretion appeared normal. In conclusion, Cole-Carpenter syndrome is caused by a specific de novo mutation in P4HB that impairs the disulfide isomerase activity of PDI.

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

    DEFF Research Database (Denmark)

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

    2010-01-01

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

  16. No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome

    DEFF Research Database (Denmark)

    Boonen, Susanne E; Hahnemann, Johanne M D; Mackay, Deborah

    2012-01-01

    Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome, which, in 50-60% of sporadic cases, is caused by hypomethylation of KCNQ1OT1 differentially methylated region (DMR) at chromosome 11p15.5. The underlying defect of this hypomethylation is largely unknown. Recently, recessive mutations...

  17. [Retention of urine caused by fecaloma in the course of a Guillain-Barre syndrome (author's transl)].

    Science.gov (United States)

    Nicolle, M H; Hugues, F C; Leche, J

    Sphincteral disorders are very rarely seen in a Guillain-Barre syndrome. The authors report a case of such a syndrome in a woman, in the course of which a retention of urine appeared making diagnosis more difficult. The cause actually was mechanical.

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

    Science.gov (United States)

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

    2016-04-01

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

  19. 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.

  20. 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...

  1. Klinefelter syndrome is a common cause for mental retardation of unknown etiology among prepubertal males.

    Science.gov (United States)

    Khalifa, M M; Struthers, J L

    2002-01-01

    Klinefelter syndrome (KS) has not typically been associated with mental retardation (MR), however, in recent years a growing body of evidence suggested that KS boys often experience language deficits and academic difficulties. In this study, we screened DNA samples from 1205 patients originally referred for fragile X syndrome (FRAX) testing, because of MR of unknown etiology and detected 8 KS patients. A similar number of males in the same age group were found to have FRAX; 3 of them had a family history of FRAX. Based on these findings, KS might be the most common cause of MR of unknown etiology among prepubertal males. Because of the significant benefits of early recognition and treatment of KS, we emphasize the importance of cytogenetic testing of all prepubertal males with cognitive impairment even without dysmorphic features.

  2. An atypical case of fragile X syndrome caused by a deletion that includes FMRI gene

    Energy Technology Data Exchange (ETDEWEB)

    Quan, F.; Zonana, J.; Gunter, K.; Peterson, K.L.; Magenis, R.E., Popovich, B.W. [Shriners Hospital for Crippled Children, Portland, OR (United States)

    1995-05-01

    Fragile X syndrome is the most common form of inherited mental retardation and results from the transcriptional inactivation of the FMR1 gene. In the vast majority of cases, this is caused by the expansion of an unstable CGG repeat in the first exon of the FMR1 gene. We describe here a phenotypically atypical case of fragile X syndrome, caused by a deletion that includes the entire FMR1 gene and {ge}9.0 Mb of flanking DNA. The proband, RK, was a 6-year-old mentally retarded male with obesity and anal atresia. A diagnosis of fragile X syndrome was established by the failure of RK`s DNA to hybridize to a 558-bp PstI-XhoI fragment (pfxa3) specific for the 5{prime}-end of the FMR1 gene. The analysis of flanking markers in the interval from Xq26.3-q28 indicated a deletion extending from between 160-500 kb distal and 9.0 Mb proximal to the FMR1 gene. High-resolution chromosome banding confirmed a deletion with breakpoints in Xq26.3 and Xq27.3. This deletion was maternally transmitted and arose as a new mutation on the grandpaternal X chromosome. The maternal transmission of the deletion was confirmed by FISH using a 34-kb cosmid (c31.4) containing most of the FMR1 gene. These results indicated that RK carried a deletion of the FMR1 region with the most proximal breakpoint described to date. This patient`s unusual clinical presentation may indicate the presence of genes located in the deleted interval proximal to the FMR1 locus that are able to modify the fragile X syndrome phenotype. 36 refs., 7 figs.

  3. Autosplenectomy Causing Catastrophic Pneumococcal Meningitis in a Patient with Lupus/Antiphospholipid Antibody Syndrome.

    Science.gov (United States)

    Sheth, Khushboo; Snyder, Aaron; Wu, Ulysses; Lahiri, Bimalin; Grover, Prashant

    2016-01-01

    We present the case ofa26-year-old female who presented to the hospital with pneumococcal meningitis. A review of her records showed atrophic spleen, and a hypercoagulable workup was positive for Systemic Lupus Erythematous (SLE)/Antiphospholipid Antibody Syndrome (APS). An autosplenectomy from thrombotic occlusion of the splenic artery made her susceptible to pneumococcal meningitis. Autoimmune conditions, particularly SLE and APS, are important causes of hypercoagulable states in a young population, and earlier detection of these conditions and appropriate treatment helps to decrease morbidity and mortality among these patients.

  4. De Novo ACTA2 Mutation Causes a Novel Syndrome of Multisystemic Smooth Muscle Dysfunction

    Science.gov (United States)

    Milewicz, Dianna M.; Østergaard, John R.; Ala-Kokko, Leena M.; Khan, Nadia; Grange, Dorothy K.; Mendoza-Londono, Roberto; Bradley, Timothy J.; Olney, Ann Haskins; Adès, Lesley; Maher, Joseph F.; Guo, Dongchuan; Buja, L. Maximilian; Kim, Dong; Hyland, James C.; Regalado, Ellen S.

    2011-01-01

    Smooth muscle cells (SMCs) contract to perform many physiological functions, including regulation of blood flow and pressure in arteries, contraction of the pupils, peristalsis of the gut and voiding of the bladder. SMC lineage in these organs is characterized by cellular expression of the SMC isoform of α-actin, encoded by the ACTA2 gene. We report here on a unique and de novo mutation in ACTA2, R179H, that causes a syndrome characterized by dysfunction of SMCs throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, hypotonic bladder, malrotation and hypoperistalsis of the gut and pulmonary hypertension. PMID:20734336

  5. De novo mutations in Plxnd1 and Rev3l cause mobius syndrome

    OpenAIRE

    Kayserili Karabey, Hülya; Tomas-Roca, Laura; Tsaalbi-Shtylik, Anastasia; Jansen, Jacob G.; Singh, Manvendra K.; Epstein, Jonathan A.; Altunoglu, Umut; Verzijl, Harriette; Soria, Laura; van Beusekom, Ellen; Roscioli, Tony; Iqbal, Zafar; Gilissen, Christian; Hoischen, Alexander; de Brouwer,Arjan P. M.; Erasmus, Corrie; Schubert, Dirk; Brunner, Han; Aytes, Antonio Perez; Marin, Faustino; Aroca, Pilar; Carta, Arturo; de Wind, Niels; Padberg, George W.; van Bokhoven, Hans

    2015-01-01

    ARTICLE Received 15 Nov 2014 | Accepted 17 Apr 2015 | Published 12 Jun 2015 De novo mutations in PLXND1 and REV3L cause Mo¨bius syndrome Laura Tomas-Roca1,2, Anastasia Tsaalbi-Shtylik3, Jacob G. Jansen3, Manvendra K. Singh4,5, Jonathan A. Epstein4, Umut Altunoglu6, Harriette Verzijl7, Laura Soria1, Ellen van Beusekom1, Tony Roscioli1,8, Zafar Iqbal1, Christian Gilissen1, Alexander Hoischen9, Arjan P.M. de Brouwer1, Corrie Erasmus7, Dirk Schubert10, Han Brunner1,11, Antoni...

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

    Science.gov (United States)

    Haugarvoll, Kristoffer; Johansson, Stefan; Rodriguez, Carlos E.; Boman, Helge; Haukanes, Bjørn Ivar; Bruland, Ove; Roque, Francisco; Jonassen, Inge; Blomqvist, Maria; Telstad, Wenche; Månsson, Jan-Eric

    2017-01-01

    Background 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. Methods and Results 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. Conclusions 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. PMID:28052128

  7. Poland's syndrome and head-and-neck tumour: an unusual association causing a reconstruction dilemma.

    Science.gov (United States)

    Gerlinger, Imre; Járai, Tamás; Lujber, László; Pytel, József

    2007-05-01

    Poland's syndrome is a rare congenital anomaly characterized by unilateral chest wall hypoplasia and ipsilateral hand abnormalities. The literature data suggest its sporadic nature. The prevailing theory concerning its cause is hypoplasia of the subclavian artery or its branches, which may lead to a range of developmental changes. Relationships have been demonstrated between tumours and Poland's syndrome and also between tumours and other developmental defects. The explanation may lie in abnormal homeobox and tumour suppressor genes. This paper presents the first literature report of a malignant tonsillo-lingual tumour with metastatic neck involvement in a patient with partial Poland's sequence. In consequence of the aplasia of the pectoralis major muscle, an alternative (a free radical forearm flap) to the routine head-and-neck reconstruction (pedicled pectoralis major flap) was necessitated following tumour excision and radical neck dissection. This case report surveys the diagnostic and therapeutic considerations when previously unnoticed Poland's syndrome is diagnosed in a patient with head-and-neck cancer. One year following major head-and-neck surgery, our patient is tumour-free.

  8. Rules for distinguishing toxicants that cause type I and type II narcosis syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Veith, G.D.; Broderius, S.J. (Environmental Protection Agency, Environmental Research Laboratory-Duluth, MN (USA))

    1990-07-01

    Narcosis is a nonspecific reversible state of arrested activity of protoplasmic structures caused by a wide variety of organic chemicals. The vast majority of industrial organic chemicals can be characterized by a baseline structure-toxicity relationship as developed for diverse aquatic organisms, using only the n-octanol/water partition coefficient as a descriptor. There are, however, many apparent narcotic chemicals that are more toxic than baseline narcosis predicts. Some of these chemicals have been distinguished as polar narcotics. Joint toxic theory and isobole diagrams were used to show that chemicals strictly additive with phenol were generally more toxic than predicted by narcosis I models and characterized by a different mode of action called narcosis II syndrome. This type of toxicity is exemplified by certain amides, amines, phenols, and nitrogen heterocycles. Evidence is provided that suggests that narcosis II syndrome may result from the presence of a strong hydrogen bonding group on the molecule, and narcosis I syndrome results from hydrophobic bonding of the chemical to enzymes and/or membranes. This shift in toxic action is apparently indistinguishable for narcotic chemicals with log P greater than about 2.7. General rules for selecting the appropriate models are proposed.

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

    Science.gov (United States)

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

    2009-05-15

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

  10. Clinical study of lateral patellofemoral crush syndrome caused by military training

    Directory of Open Access Journals (Sweden)

    De-hui ZHANG

    2012-05-01

    Full Text Available Objective  To explore diagnostic method and surgical outcome of lateral patellofemoral crush syndrome caused by military training. Methods  Fifteen patients with lateral patellofemoral crush syndrome caused by military training from May 2006 to May 2008 were enrolled in this study, including 12 men (14 knees and 3 women (3 knees, aged from 22 to 43 years old with an average of 27.3 years. Randomly selected 18 healthy volunteers with similar age and gender but no knee pain symptom were selected to serve as a control group. Anteroposterior and lateral X-ray photographs of knee joint and axial photographs of the patella were taken in both groups for observing the bone architecture of the knee joint and measuring the femoral trochlear angle, patellofemoral congruence angle and patellofemoral index, and the data were compared. The 17 knee joints in patient group were treated with lateral patellar retinaculum release. Then the preoperative and postoperative pain severity was evaluated with visual analogue scale (VAS. Results  Patellofemoral congruence angle was 7.67°± 5.81° and patellofemoral index was 2.49±1.40 in patient group, while they were -2.2°±-2.71° and 1.25±0.15 in control group. The difference between two groups showed statistical significance (P < 0.05. The change in bone architecture was obvious in patient group. The preoperative pain score was 7.06±0.85, and postoperative pain score was 3.87±0.24 after 6 months and 3.01+0.17 after 1 year in patient group. The difference between preoperative pain score and postoperative pain score showed statistical significance (P < 0.05. Conclusions  Diagnosis of patellofemoral crush syndrome caused by military training requires a combination of case history, typical symptoms, objective sign and X-ray examination. Among these, X-ray examination is the fundamental auxiliary diagnostic tool for lateral patellofemoral crush syndrome, and the patellofemoral index is convenient for

  11. Progress of integrative Chinese and Western medicine in treating polycystic ovarian syndrome caused infertility.

    Science.gov (United States)

    Song, Juan-juan; Yan, Miao-e; Wu, Xiao-ke; Hou, Li-hui

    2006-12-01

    Polycystic ovarian syndrome (PCOS) is one of the most popular diseases that cause menstrual dysfunction and infertility in women. The present paper is a brief retrospection on the progress in treatment of PCOS caused infertility with integrative Chinese and Western medicine (ICWM). It can be seen from these materials that using traditional Chinese medicine (TCM) recipes formulated by Shen-replenishing herbs or acupuncture to reinforce Gan-Shen, regulate Chong-Ren Channels in treating PCOS, stable clinical efficacy could be obtained, with less adverse reaction, though the effect initiated somewhat late. Whereas, when Shen-replenishing recipe and acupuncture are combined with hormone or ovulation promoting drugs of Western medicine, the above-mentioned shortcomings would be overcome. So, this combined therapy is frequently used in clinical practice.

  12. Histidine decarboxylase deficiency causes Tourette syndrome: parallel findings in humans and mice

    Science.gov (United States)

    Baldan, Lissandra Castellan; Rapanelli, Maximiliano; Crowley, Michael; Anderson, George M.; Loring, Erin; Gorczyca, Roxanne; Billingslea, Eileen; Wasylink, Suzanne; Panza, Kaitlyn E.; Ercan-Sencicek, A. Gulhan; Krusong, Kuakarun; Leventhal, Bennett L.; Ohtsu, Hiroshi; Bloch, Michael H.; Hughes, Zoë A.; Krystal, John H.; Mayes, Linda; de Araujo, Ivan; Ding, Yu-Shin; State, Matthew W.; Pittenger, Christopher

    2013-01-01

    Tourette syndrome (TS) is characterized by tics, sensorimotor gating deficiencies, and abnormalities of cortico-basal ganglia circuits. A mutation in histidine decarboxylase (Hdc), the key enzyme for the biosynthesis of histamine (HA), has been implicated as a rare genetic cause. Hdc knockout mice exhibited potentiated tic-like stereotypies, recapitulating core phenomenology of TS; these were mitigated by the dopamine D2 antagonist haloperidol, a proven pharmacotherapy, and by HA infusion into the brain. Prepulse inhibition was impaired in both mice and humans carrying Hdc mutations. HA infusion reduced striatal dopamine (DA) levels; in Hdc knockout mice, striatal DA was increased and the DA-regulated immediate early gene Fos was upregulated. Dopamine D2/D3 receptor binding was altered both in mice and in humans carrying the Hdc mutation. These data confirm HDC deficiency as a rare cause of TS and identify histamine-dopamine interactions in the basal ganglia as an important locus of pathology. PMID:24411733

  13. A New Potential Cause in the Development of Toxic Anterior Segment Syndrome: Fibrin Glue

    Directory of Open Access Journals (Sweden)

    Selçuk Sızmaz

    2014-08-01

    Full Text Available Objectives: To present a potential cause for toxic anterior segment syndrome (TASS. Materials and Methods: We report 4 cases of TASS that occurred following uneventful phacoemulsification and intraocular lens implantation. Results: The 4 cases were the first consecutive 2 cases of 2 different surgery days, 5 months apart. The most prominent sign of TASS was limbus-to-limbus corneal edema. Pain and/or intraocular pressure rise were also common. All surgical and presurgical procedures were checked after the first outbreak, whereas the second outbreak required further investigation. Fibrin glue remnants from preceding pterygium surgery with conjunctival autografting were found to be the potential cause. Despite intensive corticosteroid therapy, corneal edema did not resolve in 2 patients who underwent keratoplasty. Conclusion: TASS is a sight-threatening condition which requires thorough investigation for prevention of new cases. All steps must be carefully revised. (Turk J Ophthalmol 2014; 44: 280-3

  14. Progress of Integrative Chinese and Western Medicine in Treating Polycystic Ovarian Syndrome Caused Infertility

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    Polycystic ovarian syndrome (PCOS) is one of the most popular diseases that cause menstrual dysfunction and infertility in women. The present paper is a brief retrospection on the progress in treatment of PCOS caused infertility with integrative Chinese and Western medicine (ICWM). It can be seen from these materials that using traditional Chinese medicine (TCM) recipes formulated by Sheh-replenishing herbs or acupuncture to reinforce Gan-Shen, regulate Chong-Ren Channels in treating PCOS, stable clinical efficacy could be obtained, with less adverse reaction, though the effect initiated somewhat late. Whereas, when Shen-replenishing recipe and acupuncture are combined with hormone or ovulation promoting drugs of Western medicine, the above-mentioned shortcomings would be overcome. So, this combined therapy is frequently used in clinical practice.

  15. A Case of Idiopathic Hypereosinophilic Syndrome Causing Mitral Valve Papillary Muscle Rupture

    Directory of Open Access Journals (Sweden)

    Tiffany Tamse

    2015-01-01

    Full Text Available Idiopathic Hypereosinophilic Syndrome (IHES is a rare disease that can be difficult to diagnose as the differential is broad. This disease can cause significant morbidity and mortality if left untreated. Our patient is a 17-year-old adolescent female who presented with nonspecific symptoms of abdominal pain and malaise. She was incidentally found to have hypereosinophilia of 16,000 on complete blood count and nonspecific colitis and pulmonary edema on computed tomography. She went into cardiogenic shock due to papillary rupture of her mitral valve requiring extreme life support measures including intubation and extracorporal membrane oxygenation (ECMO as well as mitral valve replacement. Pathology of the valve showed eosinophilic infiltration as the underlying etiology. The patient was diagnosed with IHES after the exclusion of infectious, rheumatologic, and oncologic causes. She was treated with steroids with improvement of her symptoms and scheduled for close follow-up. In general patients with IHES that have cardiac involvement have poorer prognoses.

  16. 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.

  17. Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes.

    Science.gov (United States)

    Moulson, Casey L; Fong, Loren G; Gardner, Jennifer M; Farber, Emily A; Go, Gloriosa; Passariello, Annalisa; Grange, Dorothy K; Young, Stephen G; Miner, Jeffrey H

    2007-09-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare precocious aging syndrome caused by mutations in LMNA that lead to synthesis of a mutant form of prelamin A, generally called progerin, that cannot be processed to mature lamin A. Most HGPS patients have a recurrent heterozygous de novo mutation in exon 11 of LMNA, c.1824C>T/p.G608G; this synonymous mutation activates a nearby cryptic splice donor site, resulting in synthesis of the mutant prelamin A, progerin, which lacks 50 amino acids within the carboxyl-terminal domain. Abnormal splicing is incomplete, so the mutant allele produces some normally-spliced transcripts. Nevertheless, the synthesis of progerin is sufficient to cause misshapen nuclei in cultured cells and severe disease phenotypes in affected patients. Here we present two patients with extraordinarily severe forms of progeria caused by unusual mutations in LMNA. One had a splice site mutation (c.1968+1G>A; or IVS11+1G>A), and the other had a novel synonymous coding region mutation (c.1821G>A/p.V607V). Both mutations caused very frequent use of the same exon 11 splice donor site that is activated in typical HGPS patients. As a consequence, the ratios of progerin mRNA and protein to wild-type were higher than in typical HGPS patients. Fibroblasts from both patients exhibited nuclear shape abnormalities typical of HGPS, and cells treated with a protein farnesyltransferase inhibitor exhibited fewer misshapen nuclei. Thus, farnesyltransferase inhibitors may prove to be useful even when progerin expression levels are higher than those in typical HGPS patients.

  18. 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.

  19. 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.

  20. Elizabeth Warrington Prize Lecture. Seeing why they cannot see: understanding the syndrome and causes of posterior cortical atrophy.

    Science.gov (United States)

    Crutch, Sebastian J

    2014-09-01

    Posterior cortical atrophy (PCA) is a syndrome defined by focal neurodegeneration of the parietal, occipital, and occipito-temporal cortices and associated with progressive dysfunction of visual processing, praxis, numeracy and reading. The condition is most commonly caused by (and viewed as an atypical presentation of) Alzheimer's disease, although can also be caused by other degenerative diseases. The current paper examines the relationship of PCA to other degenerative syndromes, and considers what comparisons of these syndromes and disease phenotypes can tell us about underlying disease mechanisms. The focus then turns to neuropsychological investigations of the cognitive basis of symptoms which, although unusual in the broader context of a dementia clinic, are particularly characteristic of the PCA syndrome, before exploring implications for clinical management and patient and carer support.

  1. Successful liver transplantation in a patient with splanchnic vein thrombosis and pulmonary embolism due to polycythemia vera with Jak2v617f mutation and heparin-induced thrombocytopenia.

    Science.gov (United States)

    Biagioni, Emanuela; Pedrazzi, Paola; Marietta, Marco; Di Benedetto, Fabrizio; Villa, Erica; Luppi, Mario; Girardis, Massimo

    2013-10-01

    Heparin-induced thrombocytopenia (HIT) is a rare complication of heparin treatment resulting in a severe acquired thrombophilic condition with an associated mortality of about 10 %. We report the first case of successful urgent liver transplantation (LT) in a patient with end-stage liver disease due to a Budd-Chiari syndrome, portal vein thrombosis and pulmonary embolism due to acquired thrombophilia associated to polycythemia vera carrying JAK2V617F gene mutation and HIT in the acute phase. Lepirudin was used to provide anticoagulation in the LT perioperative period that was performed without haemorrhagic and thrombotic complications despite the donor received heparin during liver explantation.

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

    Directory of Open Access Journals (Sweden)

    Nurşen Düzgün

    2013-01-01

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

  3. Observational cohort study of ventricular arrhythmia in adults with Marfan syndrome caused by FBN1 mutations.

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    Ali Aydin

    Full Text Available BACKGROUND: Marfan syndrome is associated with ventricular arrhythmia but risk factors including FBN1 mutation characteristics require elucidation. METHODS AND RESULTS: 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. CONCLUSIONS: 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.

  4. A Rare Cause of Bacteremia in a Pediatric Patient with Down Syndrome: Sphingomonas Paucimobilis

    Directory of Open Access Journals (Sweden)

    Mehmet Özdemir, Sevgi Pekcan, Mehmet Emin Demircili, Fatma Esenkaya Taşbent, Bahadır Feyzioğlu, Şerife Pirinç, Mahmut Baykan

    2011-01-01

    Full Text Available Sphingomonas paucimobilis, is a yellow-pigmented, aerobic, non fermentative, gram negative motile bacillus. S. paucimobilis which is widely found in nature and hospital environments rarely cause serious or life threatening infections. In this report, a case of hospital acquired bloodstream infection due to S. paucimobilis in a patient with Down syndrome who was on treatment for presumed pneumonia is presented.A one year-old child patient who was a known case of Down syndrome and had previously experienced cardiac surgery was hospitalized and treated for pneumonia. On the 12th day of hospitalization, blood cultures were taken because of a high body temperature. One of the blood cultures was positive for gram-negative rods. After 48 hour of incubation, the sub-cultures on blood agar medium yielded pure growth of a yellow, non-fermentative, gram-negative, rod-shaped bacterium. The microorganism was positive for oxidase, and esculin hydrolysis, while negative for urea and nitrate reduction, citrate utilisation and motility. The isolate had been identified as S. paucimobilis by using Vitek 2 system. The antibiotic susceptibility test was also performed with the same system and the strain was found to be susceptible to piperacillin-tazobactam and other antibiotics. Treatment with intravenous piperacilin-tazobactam (150 mg/kg/day was initiated. He responded well to the treatment and was discharged after 10 days. This case is reported to emphasize that S. paucimobilis should be kept in mind as a nosocomial infectious agent in patients with Down syndrome and immunosuppressive patients and the infections should be treated according to the sensitivity test results.

  5. Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients

    OpenAIRE

    2013-01-01

    Abstract Background Papillon-Lefèvre Syndrome (PLS) is a type IV genodermatosis caused by mutations in cathepsin C (CTSC), with a worldwide prevalence of 1–4 cases per million in the general population. In México, the prevalence of this syndrome is unknown, and there are few case reports. The diagnosis of twenty patients in the state of Sinaloa highlights the need to characterize this syndrome in Mexicans. Methods To understand the basis of PLS in Mexicans, the gene expression, enzymatic acti...

  6. Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients

    OpenAIRE

    2013-01-01

    Background Papillon-Lefèvre Syndrome (PLS) is a type IV genodermatosis caused by mutations in cathepsin C (CTSC), with a worldwide prevalence of 1–4 cases per million in the general population. In México, the prevalence of this syndrome is unknown, and there are few case reports. The diagnosis of twenty patients in the state of Sinaloa highlights the need to characterize this syndrome in Mexicans. Methods To understand the basis of PLS in Mexicans, the gene expression, enzymatic activity and ...

  7. Epidemiology of childhood Guillain-Barré syndrome as a cause of acute flaccid paralysis in Honduras: 1989-1999.

    Science.gov (United States)

    Molinero, Marco R; Varon, Daniel; Holden, Kenton R; Sladky, John T; Molina, Ida B; Cleaves, Francisco

    2003-11-01

    The objective of this study was to investigate the incidence of acute flaccid paralysis in the pediatric population of Honduras over an 11-year period, determine what percentage of acute flaccid paralysis was Guillain-Barré syndrome, and identify the epidemiologic features of Guillain-Barré syndrome. There were 546 childhood cases of acute flaccid paralysis seen between January 1989 and December 1999 at the Hospital Escuela Materno-Infantil in Tegucigalpa, Honduras. Of these cases with acute flaccid paralysis, 394 (72.2%) were diagnosed with Guillain-Barré syndrome. Our incidence of Guillain-Barré syndrome in the Honduran pediatric population (1.37/100,000 per year) is higher than that shown in other studies. There was a significantly higher incidence of Guillain-Barré syndrome in younger children (ages 1-4 years), a significant preponderance of cases from rural areas, and a mild predominance in boys but a typical clinical presentation. The Honduran pediatric Guillain-Barré syndrome population had an increased mortality rate. Guillain-Barré syndrome has become the leading cause of childhood paralysis in Honduras. A better understanding of the population at highest risk and opportunities for earlier intervention with more effective therapeutic modalities may permit reducing the mortality among Honduran children who develop Guillain-Barré syndrome.

  8. Obstructive sleep apnoea in Treacher Collins syndrome: prevalence, severity and cause.

    Science.gov (United States)

    Plomp, R G; Bredero-Boelhouwer, H H; Joosten, K F M; Wolvius, E B; Hoeve, H L J; Poublon, R M L; Mathijssen, I M J

    2012-06-01

    This cohort study in 35 patients (13 children) evaluates the prevalence, severity and anatomical cause of obstructive sleep apnoea syndrome (OSAS) in patients with Treacher Collins syndrome. Ambulatory polysomnography was performed cross-sectionally to determine OSAS prevalence and severity. All upper airway related surgical interventions were evaluated retrospectively. In 11 patients, sleep endoscopy, and flexible and rigid endoscopy were applied to determine the level of anatomical obstruction of the upper airway. The overall prevalence of OSAS in Treacher Collins patients was 46% (54% in children; 41% in adults). Thirty-eight upper airway related surgical interventions were performed in 17 patients. Examination of the upper airway revealed various anatomical levels of obstruction, from the nasal septum to the trachea. Most significant obstruction was found at the level of the oro/hypopharynx. OSAS in Treacher Collins patients is an important problem so all patients should be screened for OSAS by polysomnography. Endoscopy of the upper airways was helpful in determining the level of obstruction. Surgical treatment at one level will not resolve OSAS in most patients because OSAS in Treacher Collins has a multilevel origin. Non-invasive ventilation (continuous positive airway pressure or bilevel positive airway pressure) or tracheotomy should be considered as a treatment modality.

  9. Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome

    Science.gov (United States)

    Prasad, Rathi; Hadjidemetriou, Irene; Meimaridou, Eirini; Buonocore, Federica; Saleem, Moin; Hurcombe, Jenny; Bierzynska, Agnieszka; Barbagelata, Eliana; Bergadá, Ignacio; Cassinelli, Hamilton; Das, Urmi; Krone, Ruth; Hacihamdioglu, Bulent; Sari, Erkan; Yesilkaya, Ediz; Storr, Helen L.; Clemente, Maria; Fernandez-Cancio, Monica; Camats, Nuria; Ram, Nanik; Achermann, John C.; Van Veldhoven, Paul P.; Guasti, Leonardo; Braslavsky, Debora; Guran, Tulay; Metherell, Louise A.

    2017-01-01

    Primary adrenal insufficiency is life threatening and can present alone or in combination with other comorbidities. Here, we have described a primary adrenal insufficiency syndrome and steroid-resistant nephrotic syndrome caused by loss-of-function mutations in sphingosine-1-phosphate lyase (SGPL1). SGPL1 executes the final decisive step of the sphingolipid breakdown pathway, mediating the irreversible cleavage of the lipid-signaling molecule sphingosine-1-phosphate (S1P). Mutations in other upstream components of the pathway lead to harmful accumulation of lysosomal sphingolipid species, which are associated with a series of conditions known as the sphingolipidoses. In this work, we have identified 4 different homozygous mutations, c.665G>A (p.R222Q), c.1633_1635delTTC (p.F545del), c.261+1G>A (p.S65Rfs*6), and c.7dupA (p.S3Kfs*11), in 5 families with the condition. In total, 8 patients were investigated, some of whom also manifested other features, including ichthyosis, primary hypothyroidism, neurological symptoms, and cryptorchidism. Sgpl1–/– mice recapitulated the main characteristics of the human disease with abnormal adrenal and renal morphology. Sgpl1–/– mice displayed disrupted adrenocortical zonation and defective expression of steroidogenic enzymes as well as renal histology in keeping with a glomerular phenotype. In summary, we have identified SGPL1 mutations in humans that perhaps represent a distinct multisystemic disorder of sphingolipid metabolism. PMID:28165343

  10. Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13. 3

    Energy Technology Data Exchange (ETDEWEB)

    Breuning, M.H.; Dauwerse, H.G.; Fugazza, G.; Saris, J.J.; Spruit, L.; Winjnen, H.; Beverstock, G.C.; Ommen, G.J.B. van (Leiden Univ. (Netherlands)); Tommerup, N. (John F. Kennedy Inst., Glostrup (Denmark) Avd. for Medisinsk Genetikk, Oslo (Norway)); Hagen, C.B. van der (John F. Kennedy Inst., Glostrup (Denmark)); Imaizumi, Kiyoshi; Kuroki, Yoshikazu (Kanagawa Children' s Medical Center, Yokohama (Japan)); Boogaard, M.J. van den; Pater, J.M. de; Hennekam, R.C.M. (Clinical Genetics Center, Utrecht (Netherlands)); Mariman, E.C.M.; Hamel, B.C.J. (University Hospital, Nijmegen (Netherlands)); Himmelbauer, H.; Frischauf, A.M. (Imperial Cancer Research Fund Laboratories, London (United Kingdom)); Stallings, R.L. (Los Alamos National Lab., NM (United States))

    1993-02-01

    The Rubinstein-Taybi syndrome (RTS) is a well-defined complex of congenital malformations characterized by facial abnormalities, broad thumbs and big toes, and mental retardation. The breakpoint of two distinct reciprocal translocations occurring in patients with a clinical diagnosis of RTS was located to the same interval on chromosome 16, between the cosmids N2 and RT1, in band 16p13.3. By using two-color fluorescence in situ hybridization, the signal from RT1 was found to be missing from one chromosome 16 in 6 of 24 patients with RTS. The parents of five of these patients did not show a deletion of RT1, indicating a de novo rearrangement. RTS is caused by submicroscopic interstitial deletions within 16p13.3 in approximately 25% of the patients. The detection of microdeletions will allow the objective confirmation of the clinical diagnosis in new patients and provides an excellent tool for the isolation of the gene causally related to the syndrome. 32 refs., 2 figs.

  11. [Brain abscess caused by Haemophilus influenzae type E in a pediatric patient suffering from Apert syndrome].

    Science.gov (United States)

    Isasmendi, Adela M; Pinheiro, José L; Escudé, Natalia García; Efrón, Adriana M; Moscoloni, María A; Hernández, Claudia M

    2014-01-01

    We report a case of a brain abscess caused by Haemophilus influenzae type e in a 12 year-old patient suffering from Apert syndrome. Apert syndrome is characterized by the premature closure of cranial sutures. In 2010 the patient suffered head trauma in the frontal area with cranial fracture and a cerebrospinal fluid fistula. In February 2013 he was admitted to hospital with fever, vomiting and generalized tonic-clonic seizure with deteriorating mental status/progressive sensory impairment. The computerized axial tomographic scan showed a right frontal lesion, perilesional edema, mild ventricular dilatation and pansinusitis. A brain abscess was diagnosed and drained. The clinical sample was then cultured. A gram negative coccobacillus was isolated and identified as Haemophilus influenzae serotype e. Empirical treatment was started with meropenem (120 mg/kg/day) and vancomycin (60 mg/kg/day), which was later switched to ceftriaxone (100 mg/kg/day) and metronidazole (500 mg/8 h) after culture results arrived. The patient was discharged in good clinical condition.

  12. Ectopic adrenocorticotropic hormone syndrome caused by neuroendocrine carcinoma of the colon.

    Science.gov (United States)

    Fujimoto, Kazuyo; Nakashima, Takatoshi; Sasaki, Kazunari; Hayashi, Kenichi; Hanafusa, Masao; Yoshida, Shiei; Myojo, Satoshi; Yoshida, Shun-Ichi; Sawai, Shigeaki; Sano, Nobuya

    A 48-year-old woman with a history of autoimmune hemolytic anemia and taking long-term corticosteroid therapy presented with a 3-month history of general fatigue, abdominal distension, and pigmentation. A computed tomography scan of the abdomen showed a tumor in the sigmoid colon and multiple metastatic nodules in the liver. A colonoscopy revealed an obstructing mass with the presence of an irregular ulcer in the sigmoid colon. Following biopsy and histopathological analysis, the patient was diagnosed with neuroendocrine carcinoma (NEC) of the colon. She received her first cycle of chemotherapy, with carboplatin and etoposide. During hospitalization, her pigmentation and hypertension worsened and hypokalemia was observed, all of which suggsted Cushing's syndrome. Her plasma adrenocorticotropic hormone (ACTH) and cortisol levels were high, and an ectopic ACTH-producing tumor was suspected. After a second chemotherapy cycle, she developed neutropenic fever and subsequently died. At autopsy, two histological types were found in the tumor: small cell carcinoma and large cell NEC. Immunohistochemical analysis revealed ACTH in the large cell NEC. This is the first reported case of an ectopic ACTH syndrome caused by NEC of the colon.

  13. 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.

  14. Stent Implantation for Superior Vena Cava Syndrome of Malignant Cause.

    Science.gov (United States)

    Büstgens, Felix A; Loose, Reinhard; Ficker, Joachim H; Wucherer, Michael; Uder, Michael; Adamus, Ralf

    2017-02-02

    Purpose The purpose of this paper is the retrospective analysis of endovascular therapy for the treatment of superior vena cava syndrome (SVCS) of malignant cause. This study focuses on the effectiveness of the therapy regarding the duration of remission, symptom control and practicability. Materials and Methods From January 2003 to November 2012, therapeutic implantation of one or more stents was performed in 141 patients suffering from SVCS. The medical history was retrospectively researched using digitalized patient files. If those were incomplete, secondary research was conducted using the cancer registry of the General Hospital Nuremberg, the cancer registry of the tumor center at Friedrich-Alexander-University Erlangen-Nuremberg (FAU) or information given by physicians in private practice. This data was collected using Microsoft Office Excel(®) and statistically analyzed using IBM SPSS Statistics 22(®). Results 168 stents were implanted in 141 patients (median age: 64.6 years; range: 36 - 84), 86 being male and 55 being female. In 121 patients, SVCS was caused by lung cancer (85.8 %), in 9 patients by mediastinal metastasis of an extrathoracic carcinoma (6.4 %), in 3 patients by mesothelioma of the pleura (2.1 %) and in 1 patient by Hodgkin's disease (0.7 %). There was no histological diagnosis in 7 cases (4.9 %). The primary intervention was successful in 138 patients (97.9 %). Immediate thrombosis in the stent occurred in the remaining 3 cases. Recurrence of SVCS was observed in 22 patients (15.6 %), including 5 early and 17 late occlusions. Stent dislocation or breakage was not observed. As expected, the survival after implantation was poor. The median survival was 101 days, and the median occlusion-free survival was 80 days. Conclusion The symptomatic therapy of SVCS with endovascular stents is effective and safe. Despite effective symptom control and a low rate of recurrence, the patients' prognosis is poor. Key Points

  15. Drug-Induced Hypersensitivity Syndrome Caused by Carbamazepine Used for the Treatment of Trigeminal Neuralgia

    Directory of Open Access Journals (Sweden)

    Yuko Ono

    2016-01-01

    Full Text Available An 88-year-old man was diagnosed with trigeminal neuralgia, and treatment of carbamazepine 200 mg/day was initiated. About 6 weeks later, the patient developed a skin rash accompanied by fever. He was admitted to hospital and diagnosed with drug-induced hypersensitivity syndrome (DIHS caused by carbamazepine. Oral carbamazepine treatment was stopped, but blood tests showed acute liver and acute renal failure. Drug-induced lymphocyte stimulation test (DLST for carbamazepine, human herpes virus-6 (HHV-6 IgG, and CMV-HRP were negative. Oral prednisolone therapy was begun 18 days later. The titer of HHV-6 IgG antibodies was then detected (640 times. Following treatment, liver and renal function improved and the erythema disappeared.

  16. Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

    Science.gov (United States)

    Jaureguiberry, Graciana; De la Dure-Molla, Muriel; Parry, David; Quentric, Mickael; Himmerkus, Nina; Koike, Toshiyasu; Poulter, James; Klootwijk, Enriko; Robinette, Steven L.; Howie, Alexander J.; Patel, Vaksha; Figueres, Marie-Lucile; Stanescu, Horia C.; Issler, Naomi; Nicholson, Jeremy K.; Bockenhauer, Detlef; Laing, Christopher; Walsh, Stephen B.; McCredie, David A.; Povey, Sue; Asselin, Audrey; Picard, Arnaud; Coulomb, Aurore; Medlar, Alan J.; Bailleul-Forestier, Isabelle; Verloes, Alain; Le Caignec, Cedric; Roussey, Gwenaelle; Guiol, Julien; Isidor, Bertrand; Logan, Clare; Shore, Roger; Johnson, Colin; Inglehearn, Christopher; Al-Bahlani, Suhaila; Schmittbuhl, Matthieu; Clauss, François; Huckert, Mathilde; Laugel, Virginie; Ginglinger, Emmanuelle; Pajarola, Sandra; Spartà, Giuseppina; Bartholdi, Deborah; Rauch, Anita; Addor, Marie-Claude; Yamaguti, Paulo M.; Safatle, Heloisa P.; Acevedo, Ana Carolina; Martelli-Júnior, Hercílio; dos Santos Netos, Pedro E.; Coletta, Ricardo D.; Gruessel, Sandra; Sandmann, Carolin; Ruehmann, Denise; Langman, Craig B.; Scheinman, Steven J.; Ozdemir-Ozenen, Didem; Hart, Thomas C.; Hart, P. Suzanne; Neugebauer, Ute; Schlatter, Eberhard; Houillier, Pascal; Gahl, William A.; Vikkula, Miikka; Bloch-Zupan, Agnès; Bleich, Markus; Kitagawa, Hiroshi; Unwin, Robert J.; Mighell, Alan; Berdal, Ariane; Kleta, Robert

    2013-01-01

    Background/Aims Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity and movement of this ion. Disruption of these systems in the kidney results in nephrocalcinosis and nephrolithiasis, important medical problems whose pathogenesis is incompletely understood. Methods We investigated 25 patients from 16 families with unexplained nephrocalcinosis and characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption). To identify the causative gene, we performed genome-wide linkage analysis, exome capture, next-generation sequencing, and Sanger sequencing. Results All patients had bi-allelic FAM20A mutations segregating with the disease; 20 different mutations were identified. Conclusions This au-tosomal recessive disorder, also known as enamel renal syndrome, of FAM20A causes nephrocalcinosis and amelogenesis imperfecta. We speculate that all individuals with biallelic FAM20A mutations will eventually show nephrocalcinosis. PMID:23434854

  17. Initially unrecognised lunate dislocation as a cause of carpal tunnel syndrome

    Science.gov (United States)

    Ott, Florian; Mattiassich, Georg; Kaulfersch, Christian; Ortmaier, Reinhold

    2013-01-01

    A patient was admitted reporting tingling pain and numbness in the right hand. Neurological examination—including nerve conduction studies—diagnosed carpal tunnel syndrome. Operative carpal tunnel release was performed without complications. Four months postoperatively the otherwise healthy patient presented again due to persistent complaints, although preoperative symptoms had improved. On this occasion, the patient reported loss of strength accompanied by rigidity in the wrist. Clinical examination showed some swelling adjacent to the operation wound. A postoperative ganglion cyst was suspected and a conservative treatment option—splinting the wrist—was chosen. Four weeks later the patient presented again with further swelling and increasing rigidity of the wrist. Surgical intervention was planned. Preoperative plain radiographs of the wrist revealed chronic palmar dislocation of the lunate to be the cause of the symptoms in our patient. Radiological signs of scapholunate advanced collapse arthritis (SLAC wrist) were also observed. PMID:23513027

  18. Bite-related and septic syndromes caused by cats and dogs.

    Science.gov (United States)

    Oehler, Richard L; Velez, Ana P; Mizrachi, Michelle; Lamarche, Jorge; Gompf, Sandra

    2009-07-01

    Bite infections can contain a mix of anaerobes and aerobes from the patient's skin and the animal's oral cavity, including species of Pasteurella, Streptococcus, Fusobacterium, and Capnocytophaga. Domestic cat and dog bite wounds can produce substantial morbidity and often require specialised care techniques and specific antibiotic therapy. Bite wounds can be complicated by sepsis. Disseminated infections, particularly those caused by Capnocytophaga canimorsus and Pasteurella multocida, can lead to septic shock, meningitis, endocarditis, and other severe sequelae. An emerging syndrome in veterinary and human medicine is meticillin-resistant Staphylococcus aureus (MRSA) infections shared between pets and human handlers, particularly community-acquired MRSA disease involving the USA300 clone. Skin, soft-tissue, and surgical infections are the most common. MRSA-associated infections in pets are typically acquired from their owners and can potentially cycle between pets and their human acquaintances.

  19. Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

    Science.gov (United States)

    Chong, Jessica X; Burrage, Lindsay C; Beck, Anita E; Marvin, Colby T; McMillin, Margaret J; Shively, Kathryn M; Harrell, Tanya M; Buckingham, Kati J; Bacino, Carlos A; Jain, Mahim; Alanay, Yasemin; Berry, Susan A; Carey, John C; Gibbs, Richard A; Lee, Brendan H; Krakow, Deborah; Shendure, Jay; Nickerson, Deborah A; Bamshad, Michael J

    2015-05-01

    Multiple pterygium syndrome (MPS) is a phenotypically and genetically heterogeneous group of rare Mendelian conditions characterized by multiple pterygia, scoliosis, and congenital contractures of the limbs. MPS typically segregates as an autosomal-recessive disorder, but rare instances of autosomal-dominant transmission have been reported. Whereas several mutations causing recessive MPS have been identified, the genetic basis of dominant MPS remains unknown. We identified four families affected by dominantly transmitted MPS characterized by pterygia, camptodactyly of the hands, vertebral fusions, and scoliosis. Exome sequencing identified predicted protein-altering mutations in embryonic myosin heavy chain (MYH3) in three families. MYH3 mutations underlie distal arthrogryposis types 1, 2A, and 2B, but all mutations reported to date occur in the head and neck domains. In contrast, two of the mutations found to cause MPS in this study occurred in the tail domain. The phenotypic overlap among persons with MPS, coupled with physical findings distinct from other conditions caused by mutations in MYH3, suggests that the developmental mechanism underlying MPS differs from that of other conditions and/or that certain functions of embryonic myosin might be perturbed by disruption of specific residues and/or domains. Moreover, the vertebral fusions in persons with MPS, coupled with evidence of MYH3 expression in bone, suggest that embryonic myosin plays a role in skeletal development.

  20. Infectious Mimicry Complicates Diagnosis in Hemophagocytic Syndrome Caused by Anaplastic Large-Cell Lymphoma

    Directory of Open Access Journals (Sweden)

    Michael J. Peluso

    2012-01-01

    Full Text Available Hemophagocytic syndrome (HPS arises secondary to genetic, rheumatologic, neoplastic, and infectious causes. We discuss a patient whose presentation was consistent with systemic infection but was discovered to have HPS of unknown etiology. The presenting symptoms, as well as unremarkable malignancy and rheumatologic workups, led to the pursuit of an infectious cause, but the patient was ultimately discovered to have an occult anaplastic large-cell lymphoma (ALCL. This case demonstrates the diagnostic challenges that result from infectious mimicry in the context of HPS—first, in distinguishing noninfectious HPS from the systemic inflammation that can result from a widespread infectious process, second, in the identification of the precipitating cause of HPS. While evidence of these challenges has been suggested by the limited literature on HPS and ALCL, our case illustrates the diagnostic dilemma that arises when tissue biopsy does not quickly reveal an etiology. It is important that all physicians be aware that HPS can mimic infection and be prepared to redirect the workup when an infectious etiology for HPS cannot be identified.

  1. Sudden infant death syndrome caused by cardiac arrhythmias: only a matter of genes encoding ion channels?

    Science.gov (United States)

    Sarquella-Brugada, Georgia; Campuzano, Oscar; Cesar, Sergi; Iglesias, Anna; Fernandez, Anna; Brugada, Josep; Brugada, Ramon

    2016-03-01

    Sudden infant death syndrome is the unexpected demise of a child younger than 1 year of age which remains unexplained after a complete autopsy investigation. Usually, it occurs during sleep, in males, and during the first 12 weeks of life. The pathophysiological mechanism underlying the death is unknown, and the lethal episode is considered multifactorial. However, in cases without a conclusive post-mortem diagnosis, suspicious of cardiac arrhythmias may also be considered as a cause of death, especially in families suffering from any cardiac disease associated with sudden cardiac death. Here, we review current understanding of sudden infant death, focusing on genetic causes leading to lethal cardiac arrhythmias, considering both genes encoding ion channels as well as structural proteins due to recent association of channelopathies and desmosomal genes. We support a comprehensive analysis of all genes associated with sudden cardiac death in families suffering of infant death. It allows the identification of the most plausible cause of death but also of family members at risk, providing cardiologists with essential data to adopt therapeutic preventive measures in families affected with this lethal entity.

  2. Structural and functional analyses of disease-causing missense mutations in Bloom syndrome protein.

    Science.gov (United States)

    Guo, Rong-Bing; Rigolet, Pascal; Ren, Hua; Zhang, Bo; Zhang, Xing-Dong; Dou, Shuo-Xing; Wang, Peng-Ye; Amor-Gueret, Mounira; Xi, Xu Guang

    2007-01-01

    Bloom syndrome (BS) is an autosomal recessive disorder characterized by genomic instability and the early development of many types of cancer. Missense mutations have been identified in the BLM gene (encoding a RecQ helicase) in affected individuals, but the molecular mechanism and the structural basis of the effects of these mutations remain to be elucidated. We analysed five disease-causing missense mutations that are localized in the BLM helicase core region: Q672R, I841T, C878R, G891E and C901Y. The disease-causing mutants had low ATPase and helicase activities but their ATP binding abilities were normal, except for Q672, whose ATP binding activity was lower than that of the intact BLM helicase. Mutants C878R, mapping near motif IV, and G891E and C901Y, mapping in motif IV, displayed severe DNA-binding defects. We used molecular modelling to analyse these mutations. Our work provides insights into the molecular basis of BLM pathology, and reveals structural elements implicated in coupling DNA binding to ATP hydrolysis and DNA unwinding. Our findings will help to explain the mechanism underlying BLM catalysis and interpreting new BLM causing mutations identified in the future.

  3. The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome.

    Science.gov (United States)

    Brown, Kyla; Selfridge, Jim; Lagger, Sabine; Connelly, John; De Sousa, Dina; Kerr, Alastair; Webb, Shaun; Guy, Jacky; Merusi, Cara; Koerner, Martha V; Bird, Adrian

    2016-02-01

    Rett syndrome is caused by mutations in the X-linked MECP2 gene, which encodes a chromosomal protein that binds to methylated DNA. Mouse models mirror the human disorder and therefore allow investigation of phenotypes at a molecular level. We describe an Mecp2 allelic series representing the three most common missense Rett syndrome (RTT) mutations, including first reports of Mecp2[R133C] and Mecp2[T158M] knock-in mice, in addition to Mecp2[R306C] mutant mice. Together these three alleles comprise ∼25% of all RTT mutations in humans, but they vary significantly in average severity. This spectrum is mimicked in the mouse models; R133C being least severe, T158M most severe and R306C of intermediate severity. Both R133C and T158M mutations cause compound phenotypes at the molecular level, combining compromised DNA binding with reduced stability, the destabilizing effect of T158M being more severe. Our findings contradict the hypothesis that the R133C mutation exclusively abolishes binding to hydroxymethylated DNA, as interactions with DNA containing methyl-CG, methyl-CA and hydroxymethyl-CA are all reduced in vivo. We find that MeCP2[T158M] is significantly less stable than MeCP2[R133C], which may account for the divergent clinical impact of the mutations. Overall, this allelic series recapitulates human RTT severity, reveals compound molecular aetiologies and provides a valuable resource in the search for personalized therapeutic interventions.

  4. Pyridoxine for prevention of hand-foot syndrome caused by chemotherapy: a systematic review.

    Directory of Open Access Journals (Sweden)

    Min Chen

    Full Text Available BACKGROUND: Hand-foot syndrome (HFS is a relatively frequent dermatologic toxic reaction to certain anti-cancer chemotherapies. The syndrome can evolve into a distressing condition that limits function and affects quality of life. Pyridoxine (vitamin B6 has been used empirically for the prevention of HFS caused by anti-cancer therapy. However, evidence of its efficacy remains controversial. METHODOLOGY//PRINCIPAL FINDINGS: Systematic literature searches were conducted on the Cochrane Library, PUBMED, EMBASE, LILACS, CBM, CNKI, VIP, WANFANG and the U.S. ClinicalTrials.gov website. We included all related randomized controlled trials (RCTs irrespective of language. Reviewers from different professions independently assessed all potential studies and extracted data. Subgroup analysis was planned according to dose of pyridoxine. 5 RCTs involving 607 patients were contributed to the meta-analysis. No significant differences were found between patients receiving pyridoxine and placebo for prevention of incidence of HFS and grade 2 or worse HFS (relative risk (RR 0.96, 95%confidence interval (CI 0.86-1.06; RR0.95, 95%CI 0.73-1.24, respectively. Similarly, no significant improvement in quality of life was detected among patients. However, significant difference was found for prevention of grade 2 or worse HFS with pyridoxine 400 mg daily compared to 200 mg (RR0.55, 95%CI 0.33-0.92. CONCLUSIONS/SIGNIFICANCE: There is inadequate evidence to make any recommendation about using pyridoxine for prevention of HFS caused by chemotherapy. However, pyridoxine 400 mg may have some efficacy. Further studies of large sample sizes are needed to evaluate the efficacy and safety of pyridoxine, especially at high dose, in comparison with placebo.

  5. 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.

  6. 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.

  7. Cervical neuro-muscular syndrome: discovery of a new disease group caused by abnormalities in the cervical muscles.

    Science.gov (United States)

    Matsui, Takayoshi; Ii, Kunio; Hojo, Shuntaro; Sano, Keiji

    2012-01-01

    Our previous study of whiplash injury found that abnormalities in the cervical muscles cause autonomic dystonia. Further research has found that abnormalities in the cervical muscles cause headache, chronic fatigue syndrome, vertigo, and dizziness. We named this group of diseases cervical neuro-muscular syndrome. Patients treated within a 2-year period from April 1, 2002 to March 31, 2004 reported good outcomes in 83.8% for headache, 88.4% for vertigo and dizziness, 84.5% for chronic fatigue syndrome, 88.0% for autonomic dystonia, and 83.7% for whiplash-associated disorder. A large number of outpatients present with general malaise, including many general physical complaints without identifiable cause. We propose that treatment of the cervical muscle is effective for general malaise.

  8. 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

  9. Mutations in the pre-replication complex cause Meier-Gorlin syndrome

    NARCIS (Netherlands)

    Bicknell, L.S.; Bongers, M.H.F.; Leitch, A.; Brown, S.; Schoots, J.; Harley, M.E.; Aftimos, S.; Al-Aama, J.Y.; Bober, M.; Brown, P.A.; Bokhoven, J.H.L.M. van; Dean, J.; Edrees, A.Y.; Feingold, M.; Fryer, A.; Hoefsloot, L.H.; Kau, N.; Knoers, N.V.A.M.; Mackenzie, J.; Opitz, J.M.; Sarda, P.; Ross, A.; Temple, I.K.; Toutain, A.; Wise, C.A.; Wright, M.; Jackson, A.P.

    2011-01-01

    Meier-Gorlin syndrome (ear, patella and short-stature syndrome) is an autosomal recessive primordial dwarfism syndrome characterized by absent or hypoplastic patellae and markedly small ears(1)(3). Both pre- and post-natal growth are impaired in this disorder, and although microcephaly is often evid

  10. Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm

    NARCIS (Netherlands)

    Doyle, A.J.; Doyle, J.J.; Bessling, S.L.; Maragh, S.; Lindsay, M.E.; Schepers, D.; Gillis, E.; Mortier, G.; Homfray, T.; Sauls, K.; Norris, R.A.; Huso, N.D.; Leahy, D.; Mohr, D.W.; Caulfield, M.J.; Scott, A.F.; Destree, A.; Hennekam, R.C.; Arn, P.H.; Curry, C.J.; Laer, L. van; McCallion, A.S.; Loeys, B.L.; Dietz, H.C.

    2012-01-01

    Elevated transforming growth factor (TGF)-beta signaling has been implicated in the pathogenesis of syndromic presentations of aortic aneurysm, including Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS). However, the location and character of many of the causal mutations in LDS intuitively imply

  11. 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

  12. 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.

  13. Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy

    DEFF Research Database (Denmark)

    Arndt, Anne-Karin; Schafer, Sebastian; Drenckhahn, Jorg-Detlef

    2013-01-01

    Deletion 1p36 syndrome is recognized as the most common terminal deletion syndrome. Here, we describe the loss of a gene within the deletion that is responsible for the cardiomyopathy associated with monosomy 1p36, and we confirm its role in nonsyndromic left ventricular noncompaction...... cardiomyopathy (LVNC) and dilated cardiomyopathy (DCM). With our own data and publically available data from array comparative genomic hybridization (aCGH), we identified a minimal deletion for the cardiomyopathy associated with 1p36del syndrome that included only the terminal 14 exons of the transcription...... of cardiomyocytes and also revealed evidence of impaired cardiomyocyte proliferative capacity. In conclusion, mutation of PRDM16 causes the cardiomyopathy in 1p36 deletion syndrome as well as a proportion of nonsyndromic LVNC and DCM....

  14. Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.

    Science.gov (United States)

    Schubert, Julian; Siekierska, Aleksandra; Langlois, Mélanie; May, Patrick; Huneau, Clément; Becker, Felicitas; Muhle, Hiltrud; Suls, Arvid; Lemke, Johannes R; de Kovel, Carolien G F; Thiele, Holger; Konrad, Kathryn; Kawalia, Amit; Toliat, Mohammad R; Sander, Thomas; Rüschendorf, Franz; Caliebe, Almuth; Nagel, Inga; Kohl, Bernard; Kecskés, Angela; Jacmin, Maxime; Hardies, Katia; Weckhuysen, Sarah; Riesch, Erik; Dorn, Thomas; Brilstra, Eva H; Baulac, Stephanie; Møller, Rikke S; Hjalgrim, Helle; Koeleman, Bobby P C; Jurkat-Rott, Karin; Lehman-Horn, Frank; Roach, Jared C; Glusman, Gustavo; Hood, Leroy; Galas, David J; Martin, Benoit; de Witte, Peter A M; Biskup, Saskia; De Jonghe, Peter; Helbig, Ingo; Balling, Rudi; Nürnberg, Peter; Crawford, Alexander D; Esguerra, Camila V; Weber, Yvonne G; Lerche, Holger

    2014-12-01

    Febrile seizures affect 2-4% of all children and have a strong genetic component. Recurrent mutations in three main genes (SCN1A, SCN1B and GABRG2) have been identified that cause febrile seizures with or without epilepsy. Here we report the identification of mutations in STX1B, encoding syntaxin-1B, that are associated with both febrile seizures and epilepsy. Whole-exome sequencing in independent large pedigrees identified cosegregating STX1B mutations predicted to cause an early truncation or an in-frame insertion or deletion. Three additional nonsense or missense mutations and a de novo microdeletion encompassing STX1B were then identified in 449 familial or sporadic cases. Video and local field potential analyses of zebrafish larvae with antisense knockdown of stx1b showed seizure-like behavior and epileptiform discharges that were highly sensitive to increased temperature. Wild-type human syntaxin-1B but not a mutated protein rescued the effects of stx1b knockdown in zebrafish. Our results thus implicate STX1B and the presynaptic release machinery in fever-associated epilepsy syndromes.

  15. First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome.

    Science.gov (United States)

    Beygo, J; Buiting, K; Seland, S; Lüdecke, H-J; Hehr, U; Lich, C; Prager, B; Lohmann, D R; Wieczorek, D

    2012-01-01

    Treacher Collins syndrome (TCS) is a rare craniofacial disorder characterized by facial anomalies and ear defects. TCS is caused by mutations in the TCOF1 gene and follows autosomal dominant inheritance. Recently, mutations in the POLR1D and POLR1C genes have also been identified to cause TCS. However, in a subset of patients no causative mutation could be found yet. Inter- and intrafamilial phenotypic variability is high as is the variety of mainly family-specific mutations identified throughout TCOF1. No obvious correlation between pheno- and genotype could be observed. The majority of described point mutations, small insertions and deletions comprising only a few nucleotides within TCOF1 lead to a premature termination codon. We investigated a cohort of 112 patients with a tentative clinical diagnosis of TCS by multiplex ligation-dependent probe amplification (MLPA) to search for larger deletions not detectable with other methods used. All patients were selected after negative screening for mutations in TCOF1, POLR1D and POLR1C. In 1 patient with an unequivocal clinical diagnosis of TCS, we identified a 3.367 kb deletion. This deletion abolishes exon 3 and is the first described single exon deletion within TCOF1. On RNA level we observed loss of this exon which supposedly leads to haploinsufficiency of TREACLE, the nucleolar phosphoprotein encoded by TCOF1.

  16. 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.

  17. Glutamatergic transmission aberration: a major cause of behavioral deficits in a murine model of Down's syndrome.

    Science.gov (United States)

    Kaur, Gurjinder; Sharma, Ajay; Xu, Wenjin; Gerum, Scott; Alldred, Melissa J; Subbanna, Shivakumar; Basavarajappa, Balapal S; Pawlik, Monika; Ohno, Masuo; Ginsberg, Stephen D; Wilson, Donald A; Guilfoyle, David N; Levy, Efrat

    2014-04-09

    Trisomy 21, or Down's syndrome (DS), is the most common genetic cause of intellectual disability. Altered neurotransmission in the brains of DS patients leads to hippocampus-dependent learning and memory deficiency. Although genetic mouse models have provided important insights into the genes and mechanisms responsible for DS-specific changes, the molecular mechanisms leading to memory deficits are not clear. We investigated whether the segmental trisomy model of DS, Ts[Rb(12.1716)]2Cje (Ts2), exhibits hippocampal glutamatergic transmission abnormalities and whether these alterations cause behavioral deficits. Behavioral assays demonstrated that Ts2 mice display a deficit in nest building behavior, a measure of hippocampus-dependent nonlearned behavior, as well as dysfunctional hippocampus-dependent spatial memory tested in the object-placement and the Y-maze spontaneous alternation tasks. Magnetic resonance spectra measured in the hippocampi revealed a significantly lower glutamate concentration in Ts2 as compared with normal disomic (2N) littermates. The glutamate deficit accompanied hippocampal NMDA receptor1 (NMDA-R1) mRNA and protein expression level downregulation in Ts2 compared with 2N mice. In concert with these alterations, paired-pulse analyses suggested enhanced synaptic inhibition and/or lack of facilitation in the dentate gyrus of Ts2 compared with 2N mice. Ts2 mice also exhibited disrupted synaptic plasticity in slice recordings of the hippocampal CA1 region. Collectively, these findings imply that deficits in glutamate and NMDA-R1 may be responsible for impairments in synaptic plasticity in the hippocampus associated with behavioral dysfunctions in Ts2 mice. Thus, these findings suggest that glutamatergic deficits have a significant role in causing intellectual disabilities in DS.

  18. Novel TK2 mutations as a cause of delayed muscle maturation in mtDNA depletion syndrome.

    Science.gov (United States)

    Termglinchan, Thanes; Hisamatsu, Seito; Ohmori, Junko; Suzumura, Hiroshi; Sumitomo, Noriko; Imataka, George; Arisaka, Osamu; Murakami, Nobuyuki; Minami, Narihiro; Akihiko, Ishiyama; Sasaki, Masayuki; Goto, Yuichi; Noguchi, Satoru; Nonaka, Ikuya; Mitsuhashi, Satomi; Nishino, Ichizo

    2016-10-01

    Recessive mutations in TK2 cause a severe mitochondrial DNA depletion syndrome (MDS),(1) characterized by severe myopathy from early infancy. Recent reports have suggested a wider clinical spectrum including encephalomyopathic form.(1,2) We report a patient with infantile-onset fatal encephalomyopathy presenting with extreme muscle fiber immaturity.

  19. 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...

  20. Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.

    NARCIS (Netherlands)

    Ruiz-Perez, V.L.; Tompson, S.W.; Blair, H.J.; Espinoza-Valdez, C.; Lapunzina, P.; Silva, E.O.; Hamel, B.C.J.; Gibbs, J.L.; Young, I.D.; Wright, M.J.; Goodship, J.A.

    2003-01-01

    Ellis-van Creveld syndrome (EvC) is an autosomal recessive skeletal dysplasia. Elsewhere, we described mutations in EVC in patients with this condition (Ruiz-Perez et al. 2000). We now report that mutations in EVC2 also cause EvC. These two genes lie in a head-to-head configuration that is conserved

  1. Protein causes hyperinsulinemia: a Chinese patient with hyperinsulinism/hyperammonaemia syndrome due to a glutamate dehydrogenase gene mutation

    Institute of Scientific and Technical Information of China (English)

    CHEN Shi; XIAO Xin-hua; DIAO Cheng-ming; TONG An-li; WANG Ou; QIU Zheng-qing; YU Kang; WANG Tong

    2010-01-01

    @@ Glucose is derived from three sources: intestinal absorption, glycogenolysis, and gluconeogenesis. Hypoglycemia in child is often attributed to depletion of glycogen stores. However, recently, congenital hyperinsulinism becomes an important cause of hypoglycaemia in early infancy. Mutations in the genes encoding SUR1 and KIR6.2 are the most frequent genetic causes of hyperinsulinism followed by mutations in the glutamate dehydrogenase (GDH) gene which encodes hyperinsulinism/hyperammonaemia (HI/HA) syndrome.

  2. Saethre-Chotzen syndrome : cranofacial anomalies caused by genetic changes in the TWIST gene

    OpenAIRE

    2004-01-01

    textabstractIn this thesis, one of the most frequently occurring and most variable craniosynostosis syndromes was investigated; Saethre-Chotzen syndrome. Craniosynostosis is the premature obliteration of cranial sutures in the developing embryo. It can also occur in the first few months of life. Saethre-Chotzen syndrome is, besides craniosynostosis, characterized by specific facial and limb abnormalities, of which the most frequently reported are ptosis, prominent crus helicis, cutaneous synd...

  3. Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.

    Science.gov (United States)

    Long, Ashleigh; Sinkovskaya, Elena S; Edmondson, Andrew C; Zackai, Elaine; Schrier Vergano, Samantha A

    2016-12-01

    Kabuki syndrome (MIM 147920) is a well-described, multiple congenital anomaly syndrome characterized by growth and developmental delay, cardiac, renal, and vertebral anomalies, as well as persistent fetal finger pads and distinct facial features. Facies are characterized by long palpebral fissures with eversion of lateral third of the lower eyelid, resembling the "Kabuki make-up" theatre genre after which the syndrome is named. Kabuki syndrome is estimated to affect 1/32,000 births, with 55-80% of patients showing nonsense or frameshift mutations in the KMT2D (MLL2) gene, which encodes a histone transferase located on chromosome 12q. Additionally, owing to the heterogeneous nature of Kabuki syndrome, a smaller number of diagnosed patients have been identified with mutations or deletions in KDM6A (a component of the same transcriptional complex as KMT2D) with no mutations in KMT2D, or as those diagnosed with Kabuki syndrome and without alterations in either KMT2D or KDM6A. Diagnosis of the syndrome in newborns and infants is difficult, as the facial features are not as evident as in toddler- or childhood. There are no known "tell-tale" signs of Kabuki syndrome prenatally, and there are no reports of common, specific findings in fetuses that might suggest the diagnosis. We present here two infants who presented with prenatal hydrops/ascites, who were subsequently diagnosed with Kabuki syndrome. Although relatively non-specific, we suggest that Kabuki syndrome be added to the list of genetic syndromes that are suspected in cases of prenatal hydrops, review the molecular etiology of Kabuki syndrome, and broaden the phenotype of this well-described disorder. © 2016 Wiley Periodicals, Inc.

  4. 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....

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

    OpenAIRE

    Shastri, Vivek M.; Schmidt, Kristina H.

    2015-01-01

    Abstract Background Bloom syndrome is an autosomal recessive disorder characterized by extraordinary cancer incidence early in life and an average life expectancy of ~27 years. Premature stop codons in BLM , which encodes a DNA helicase that functions in DNA double‐strand‐break repair, make up the vast majority of Bloom syndrome mutations, with only 13 single amino acid changes identified in the syndrome. Sequencing projects have identified nearly one hundred single nucleotide variants in BLM...

  6. Pearson's syndrome: a rare cause of non-immune hydrops fetalis

    Institute of Scientific and Technical Information of China (English)

    李澤荷; 林青雲; 李志偉; 鄺毅山; 司徒紹昌

    2003-01-01

    @@ Pearson's syndrome, or Pearson's marrow-pancreas syndrome, was first described in 1979 in four unrelated children.1 It is characterized by refractory sideroblastic anaemia with vacuolization of marrow progenitor cells, and exocrine pancreatic dysfunction. Its progressive nature, multisystem involvement and metabolic disturbances led to the subsequent identification of a unique mitochondrial DNA deletion in most affected patients.2 Despite the relentless clinical course, the majority of the patients with Pearson ' s syndrome present insidiously. Life-threatening presentation at birth is extremely rare. We report a case of Pearson ' s syndrome presenting with severe hydrops fetalis.

  7. [Proteus syndrome: Case report of bladder vascular malformation causing massive hematuria].

    Science.gov (United States)

    Abbo, O; Bouali, O; Galinier, P; Moscovici, J

    2012-02-01

    Proteus syndrome is a rare, sporadic disorder consisting of disproportionate overgrowth of multiple tissues, vascular malformations, and connective tissue or epidermal nevi. Due to mosaic pattern of distribution, the phenotypes are variable and diverse. Vascular malformations are part of the major criteria used to define and diagnose this syndrome. It can involve the gastrointestinal tract, spleen, or the urinary tract but bladder malformations are rare. We report here a case of bladder vascular malformation in a 12-year-old boy known to have Proteus syndrome and review the literature on bladder malformations or tumors in this syndrome.

  8. NEK1 mutations cause short-rib polydactyly syndrome type majewski.

    Science.gov (United States)

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

    2011-01-01

    Defects of ciliogenesis have been implicated in a wide range of human phenotypes and play a crucial role in signal transduction and cell-cycle coordination. We used homozygosity mapping in two families with autosomal-recessive short-rib polydactyly syndrome Majewski type to identify mutations in NEK1 as an underlying cause of this lethal osteochondrodysplasia. NEK1 encodes a serine/threonine kinase with proposed function in DNA double-strand repair, neuronal development, and coordination of cell-cycle-associated ciliogenesis. We found that absence of functional full-length NEK1 severely reduces cilia number and alters ciliar morphology in vivo. We further substantiate a proposed digenic diallelic inheritance of ciliopathies by the identification of heterozygous mutations in NEK1 and DYNC2H1 in an additional family. Notably, these findings not only increase the broad spectrum of ciliar disorders, but suggest a correlation between the degree of defective microtubule or centriole elongation and organization and the severity of the resulting phenotype.

  9. Excessive heart rate response to orthostatic stress in postural tachycardia syndrome is not caused by anxiety.

    Science.gov (United States)

    Masuki, Shizue; Eisenach, John H; Johnson, Christopher P; Dietz, Niki M; Benrud-Larson, Lisa M; Schrage, William G; Curry, Timothy B; Sandroni, Paola; Low, Phillip A; Joyner, Michael J

    2007-03-01

    Postural tachycardia syndrome (POTS) is characterized by excessive increases in heart rate (HR) without hypotension during orthostasis. The relationship between the tachycardia and anxiety is uncertain. Therefore, we tested whether the HR response to orthostatic stress in POTS is primarily related to psychological factors. POTS patients (n = 14) and healthy controls (n = 10) underwent graded venous pooling with lower body negative pressure (LBNP) to -40 mmHg while wearing deflated antishock trousers. "Sham" venous pooling was performed by 1) trouser inflation to 5 mmHg during LBNP and 2) vacuum pump activation without LBNP. HR responses to mental stress were also measured in both groups, and a questionnaire was used to measure psychological parameters. During LBNP, HR in POTS patients increased 39 +/- 5 beats/min vs. 19 +/- 3 beats/min in control subjects at -40 mmHg (P inflation markedly blunted the HR responses in the patients (9 +/- 2 beats/min) and controls (2 +/- 1 beats/min), and there was no HR increase during vacuum application without LBNP in either group. HR responses during mental stress were not different in the patients and controls (18 +/- 2 vs. 19 +/- 1 beats/min; P > 0.6). Anxiety, somatic vigilance, and catastrophic cognitions were significantly higher in the patients (P 0.1). These results suggest that the HR response to orthostatic stress in POTS patients is not caused by anxiety but that it is a physiological response that maintains arterial pressure during venous pooling.

  10. Narcissistic vulnerability is a common cause for depression in patients with Gilles de la Tourette syndrome.

    Science.gov (United States)

    Trillini, Morounke O; Müller-Vahl, Kirsten R

    2015-12-15

    The aim of this study was to assess for the first time different dimensions of narcissistic self-regulation in a large cohort of adult patients with Gilles de la Tourette syndrome (GTS) (n=50). From preliminary studies it is suggested that narcissistic personality trait and disorder, respectively, are relatively uncommon and occur in only 6-10% of GTS patients. In this study we used the Narcissism Inventory (NI), a 163-items questionnaire that measures four different dimensions of narcissism. The main result was that the prevalence of narcissism strongly depends on the subtype of narcissism: while the vulnerable narcissism ("threatened self" and "hypochondriac self") was common, the "classic narcissistic self" (grandiose narcissism) was rare. From our data an association between comorbid depression and increased values of the "threatened self" and comorbid OCD with increased values of the "hypochondriac self" is suggested. Narcissism correlated positively with the personality domain neuroticism and had a significantly negative impact on patients' quality of life. Therefore it can be speculated that vulnerable narcissism is - among several others - one cause for depression in patients with GTS. These findings may open new psychotherapeutic perspectives in the treatment of depression in patients with GTS.

  11. 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.

  12. Identification and expression analysis of a novel intragenic EFNB1 mutation causing craniofrontonasal syndrome

    Directory of Open Access Journals (Sweden)

    Oscar F. Chacon-Camacho

    2014-12-01

    Full Text Available Craniofrontonasal syndrome (CFNS is an X-linked disorder caused by mutations in the EFNB1 gene and characterized by distinctive craniofacial and digital malformations. In contrast with most X-linked traits, female patients with CFNS display a more severe phenotype than males. In this report, the clinical, molecular and RNA expression analyses of a female subject with CFNS are described. A novel c.445_449delGAGGG deletion in exon 3 of EFNB1 was demonstrated in this patient. To assess the effect of this novel mutation at the transcript level, the expression of EFNB1 mRNA was studied by quantitative RT-PCR. To our knowledge, this is the first time that an EFNB1 transcript carrying a truncating mutation in exon 3 is demonstrated to undergo degradation by nonsense-mediated mRNA decay. Our results expand the mutational spectrum of CFNS and add to the functional consequences of truncating EFNB1 mutations.

  13. 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.

  14. A CHRNE frameshift mutation causes congenital myasthenic syndrome in young Jack Russell Terriers.

    Science.gov (United States)

    Rinz, Caitlin J; Lennon, Vanda A; James, Fiona; Thoreson, James B; Tsai, Kate L; Starr-Moss, Alison N; Humphries, H Dale; Guo, Ling T; Palmer, Anthony C; Clark, Leigh Anne; Shelton, G Diane

    2015-12-01

    Congenital myasthenic syndromes (CMSs) are a group of rare genetic disorders of the neuromuscular junction resulting in structural or functional causes of fatigable weakness that usually begins early in life. Mutations in pre-synaptic, synaptic and post-synaptic proteins have been demonstrated in human cases, with more than half involving aberrations in nicotinic acetylcholine receptor (AChR) subunits. CMS was first recognized in dogs in 1974 as an autosomal recessive trait in Jack Russell Terriers (JRTs). A deficiency of junctional AChRs was demonstrated. Here we characterize a CMS in 2 contemporary cases of JRT littermates with classic clinical and electromyographic findings, and immunochemical confirmation of an approximately 90% reduction in AChR protein content. Loci encoding the 5 AChR subunits were evaluated using microsatellite markers, and CHRNB1 and CHRNE were identified as candidate genes. Sequences of the splice sites and exons of both genes revealed a single base insertion in exon 7 of CHRNE that predicts a frameshift mutation and a premature stop codon. We further demonstrated this pathogenic mutation in CHRNE in archival tissues from unrelated JRTs studied 34 years ago.

  15. 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.

  16. Dumping syndrome: an unusual cause of severe hyperinsulinemic hypoglycemia in neurologically impaired children with gastrostomy.

    Science.gov (United States)

    Bizzarri, C; Cervoni, M; Crea, F; Cutrera, R; Schiavino, A; Schiaffini, R; Cappa, M

    2011-02-01

    This paper describes severe hyperinsulinemic hypoglycemia during bolus enteral feeding in two neurologically impaired children. Both children were affected by dysphagia with swallowing difficulties; caloric intake was inadequate. For these reasons, percutaneous endoscopic gastrostomy had been positioned during the first months of life. In one patient due to persisting vomiting, after a few months, a gastrojejunal tube (PEG-J) was inserted. Hypoglycemia was revealed by routine blood tests, without evidence of specific symptoms. Continuous subcutaneous glucose monitoring showed wide glucose excursions, ranging from hypoglycemia to hyperglycemia. Extremely high levels of insulin were detected at the time of hypoglycemia. A diagnosis of dumping syndrome (DS) was suspected in both children. In the child with PEG, the tip of the gastrostomy catheter was found to be lying in the bulbus duodeni. Once this had been pulled back, hypoglycemic episodes disappeared. The child with PEG-J needed continuous enteral feeding to reach a normal glucose balance. DS is a relatively common complication in children with gastrostomy, but extremely irregular glucose levels, ranging from hypoglycemia to hyperglycemia, and increased insulin secretion had not been previously demonstrated. The incidence of DS is probably underestimated in children receiving enteral feeding for neurological impairment. In these patients intensive monitoring of blood glucose levels should be performed to calibrate meals. Repeated underestimated hypoglycemic episodes could worsen neurological damage and cause a deterioration in clinical conditions.

  17. Acute liver failure caused by drug-induced hypersensitivity syndrome associated with hyperferritinemia

    Institute of Scientific and Technical Information of China (English)

    Masayuki Miyazaki; Masatake Tanaka; Akihiro Ueda; Tsuyoshi Yoshimoto; Masaki Kato; Makoto Nakamuta; Kazuhiro Kotoh; Ryoichi Takayanagi

    2011-01-01

    Drug-induced hypersensitivity syndrome (DIHS) is a se-vere reaction usually characterized by fever, rash, and multiorgan failure, occurring 2-6 wk after drug introduction.It is an immune-mediated reaction involving macrophage and T-lymphocyte activation and cytokine release. A 54-year-old woman was diagnosed with rheumatic arthritis and initiated salazosulfapyridine by mouth. About 10 d later, she had a high fever, skin rash and liver dysfunction. She was admitted to hospital and diagnosed with a drug eruption. She was treated with oral prednisolone 30 mg/d; however, she developed high fever again and her blood tests showed acute liver failure and cytopenia associated with hyperferritinemia. She was diagnosed with acute liver failure and hemophagocytosis caused by DIHS. She was transferred to the Department of Medicine and Bioregulatory Science, Kyushu University, where she was treated with arterial steroid injection therapy. Following this treatment, her liver function improved and serum ferritin immediately decreased. We hypothesized that an immune-mediated reaction in DIHS may have generated over-activation of macrophages and T-lymphocytes, followed by a cytokine storm that affected various organs. The measurement of serum ferritin might be a useful marker of the severity of DIHS.

  18. Severe hyponatremia caused by nab-paclitaxel-induced syndrome of inappropriate antidiuretic hormone secretion

    Science.gov (United States)

    Neuzillet, Cindy; Babai, Samy; Kempf, Emmanuelle; Pujol, Géraldine; Rousseau, Benoît; Le-Louët, Hervé; Christophe Tournigand

    2016-01-01

    Abstract Incidence of pancreatic ductal adenocarcinoma (PDAC) is increasing. Most patients have advanced disease at diagnosis and therapeutic options in this setting are limited. Gemcitabine plus nab-paclitaxel regimen was demonstrated to increase survival compared with gemcitabine monotherapy and is therefore indicated as first-line therapy in patients with metastatic PDAC and performance status Eastern Cooperative Oncology Group (ECOG) 0-2. The safety profile of gemcitabine and nab-paclitaxel combination includes neutropenia, fatigue, and neuropathy as most common adverse events of grade 3 or higher. No case of severe hyponatremia associated with the use of nab-paclitaxel for the treatment of PDAC has been reported to date. We report the case of a 72-year-old Caucasian man with a metastatic PDAC treated with gemcitabine and nab-paclitaxel regimen, who presented with a severe hyponatremia (grade 4) caused by a documented syndrome of inappropriate antidiuretic hormone secretion (SIADH). This SIADH was attributed to nab-paclitaxel after a rigorous imputability analysis, including a rechallenge procedure with dose reduction. After dose and schedule adjustment, nab-paclitaxel was pursued without recurrence of severe hyponatremia and with maintained efficacy. Hyponatremia is a rare but potentially severe complication of nab-paclitaxel therapy that medical oncologists and gastroenterologists should be aware of. Nab-paclitaxel-induced hyponatremia is manageable upon dose and schedule adaptation, and should not contraindicate careful nab-paclitaxel reintroduction. This is of particular interest for a disease in which the therapeutic options are limited. PMID:27368013

  19. 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.

  20. 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.

  1. 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.

  2. 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.

  3. Dysfunction of intraflagellar transport-A causes hyperphagia-induced obesity and metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Damon T. Jacobs

    2016-07-01

    Full Text Available Primary cilia extend from the plasma membrane of most vertebrate cells and mediate signaling pathways. Ciliary dysfunction underlies ciliopathies, which are genetic syndromes that manifest multiple clinical features, including renal cystic disease and obesity. THM1 (also termed TTC21B or IFT139 encodes a component of the intraflagellar transport-A complex and mutations in THM1 have been identified in 5% of individuals with ciliopathies. Consistent with this, deletion of murine Thm1 during late embryonic development results in cystic kidney disease. Here, we report that deletion of murine Thm1 during adulthood results in obesity, diabetes, hypertension and fatty liver disease, with gender differences in susceptibility to weight gain and metabolic dysfunction. Pair-feeding of Thm1 conditional knock-out mice relative to control littermates prevented the obesity and related disorders, indicating that hyperphagia caused the obese phenotype. Thm1 ablation resulted in increased localization of adenylyl cyclase III in primary cilia that were shortened, with bulbous distal tips on neurons of the hypothalamic arcuate nucleus, an integrative center for signals that regulate feeding and activity. In pre-obese Thm1 conditional knock-out mice, expression of anorexogenic pro-opiomelanocortin (Pomc was decreased by 50% in the arcuate nucleus, which likely caused the hyperphagia. Fasting of Thm1 conditional knock-out mice did not alter Pomc nor orexogenic agouti-related neuropeptide (Agrp expression, suggesting impaired sensing of changes in peripheral signals. Together, these data indicate that the Thm1-mutant ciliary defect diminishes sensitivity to feeding signals, which alters appetite regulation and leads to hyperphagia, obesity and metabolic disease.

  4. Dysfunction of intraflagellar transport-A causes hyperphagia-induced obesity and metabolic syndrome.

    Science.gov (United States)

    Jacobs, Damon T; Silva, Luciane M; Allard, Bailey A; Schonfeld, Michael P; Chatterjee, Anindita; Talbott, George C; Beier, David R; Tran, Pamela V

    2016-07-01

    Primary cilia extend from the plasma membrane of most vertebrate cells and mediate signaling pathways. Ciliary dysfunction underlies ciliopathies, which are genetic syndromes that manifest multiple clinical features, including renal cystic disease and obesity. THM1 (also termed TTC21B or IFT139) encodes a component of the intraflagellar transport-A complex and mutations in THM1 have been identified in 5% of individuals with ciliopathies. Consistent with this, deletion of murine Thm1 during late embryonic development results in cystic kidney disease. Here, we report that deletion of murine Thm1 during adulthood results in obesity, diabetes, hypertension and fatty liver disease, with gender differences in susceptibility to weight gain and metabolic dysfunction. Pair-feeding of Thm1 conditional knock-out mice relative to control littermates prevented the obesity and related disorders, indicating that hyperphagia caused the obese phenotype. Thm1 ablation resulted in increased localization of adenylyl cyclase III in primary cilia that were shortened, with bulbous distal tips on neurons of the hypothalamic arcuate nucleus, an integrative center for signals that regulate feeding and activity. In pre-obese Thm1 conditional knock-out mice, expression of anorexogenic pro-opiomelanocortin (Pomc) was decreased by 50% in the arcuate nucleus, which likely caused the hyperphagia. Fasting of Thm1 conditional knock-out mice did not alter Pomc nor orexogenic agouti-related neuropeptide (Agrp) expression, suggesting impaired sensing of changes in peripheral signals. Together, these data indicate that the Thm1-mutant ciliary defect diminishes sensitivity to feeding signals, which alters appetite regulation and leads to hyperphagia, obesity and metabolic disease.

  5. 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.

  6. Concurrent nephrotic syndrome and acute renal failure caused by chronic lymphocytic leukemia (CLL): a case report and literature review.

    Science.gov (United States)

    Dou, Xianrui; Hu, Haitang; Ju, Yongle; Liu, Yongdong; Kang, Kaifu; Zhou, Shufeng; Chen, Wenfang

    2011-10-13

    Kidney injury associated with lymphocytic leukemia (CLL) is typically caused by direct tumor infiltration which occasionally results in acute renal failure. Glomerular involvement presenting as proteinuria or even nephrotic syndrome is exceptionally rare. Here we report a case of 54-year-old male CLL patient with nephrotic syndrome and renal failure. The lymph node biopsy confirmed that the patients had CLL with remarkable immunoglobulin light chain amyloid deposition. The renal biopsy demonstrated the concurrence of AL amyloidosis and neoplastic infiltration. Combined treatment of fludarabine, cyclophosphamide and rituximab resulted in remission of CLL, as well as the renal disfunction and nephrotic syndrome, without recurrence during a 12-month follow-up. To our knowledge, this is the first case of CLL patient showing the nephrotic syndrome and acute renal failure caused by AL amyloidosis and neoplastic infiltration. Though AL amyloidosis caused by plasma cell dyscrasia usually responses poorly to chemotherapy, this patient exhibited a satisfactory clinical outcome due to successful inhibition of the production of amylodogenic light chains by combined chemotherapy.

  7. Bovine Neonatal Pancytopenia: is this alloimmune syndrome caused by vaccine-induced alloreactive antibodies?

    Science.gov (United States)

    Bastian, Max; Holsteg, Mark; Hanke-Robinson, Heidrun; Duchow, Karin; Cussler, Klaus

    2011-07-18

    Bovine Neonatal Pancytopenia (BNP) is a new emerging disease observed since 2007 in Germany and neighbouring countries. The syndrome affects newborn calves and is characterized by pancytopenia, severe bleeding and high lethality. So far, a causative role of infectious or toxic agents has been ruled out. Instead, the syndrome is induced after ingestion of colostrum, the first milk that supplies the calf with maternal antibodies. In analogy to similar diseases in humans it has therefore been postulated that BNP is caused by alloreactive, maternal antibodies. There is a striking association between BNP and a previous vaccination of the respective dams with a particular vaccine against Bovine Virus Diarrhoea (BVD). This association has led to a suspension of the marketing authorisation for the vaccine, by the European Commission. The current study investigates the role of this vaccine in the pathogenesis of BNP. By flow cytometry we were able to demonstrate that sera of BNP dams (dams that gave birth to a BNP calf) harbour alloreactive antibodies binding to surface antigens on bovine leukocytes. A significantly weaker alloreactivity was observed with sera of non-BNP dams that have been vaccinated with the same vaccine but delivered healthy calves. No binding was seen with non-BVD-vaccinated control cows and animals that were vaccinated with other inactivated BVD vaccines so far not associated with BNP. The binding is functionally relevant, because opsonization of bovine leukocytes with alloantibodies led to an elevated cytophagocytosis by bovine macrophages. To test whether the vaccine induces alloreactive antibodies two strategies were employed: Guinea pigs were vaccinated with a panel of commercially available BVD-vaccines. Only the incriminated vaccine induced antibodies binding surface antigens on bovine leukocytes. Additionally, two calves were repeatedly vaccinated with the suspected vaccine and the development of alloreactivity was monitored. In dependence of

  8. 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 examine...

  9. Saethre-Chotzen syndrome : cranofacial anomalies caused by genetic changes in the TWIST gene

    NARCIS (Netherlands)

    I.M. de Heer (Marieke)

    2004-01-01

    textabstractIn this thesis, one of the most frequently occurring and most variable craniosynostosis syndromes was investigated; Saethre-Chotzen syndrome. Craniosynostosis is the premature obliteration of cranial sutures in the developing embryo. It can also occur in the first few months of life. Sae

  10. 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...

  11. Partial duplications of the ATRX gene cause the ATR-X syndrome.

    Science.gov (United States)

    Thienpont, Bernard; de Ravel, Thomy; Van Esch, Hilde; Van Schoubroeck, Dominique; Moerman, Philippe; Vermeesch, Joris Robert; Fryns, Jean-Pierre; Froyen, Guy; Lacoste, Caroline; Badens, Catherine; Devriendt, Koen

    2007-10-01

    ATR-X syndrome is a rare syndromic X-linked mental retardation disorder. We report that some of the patients suspected of ATR-X carry large intragenic duplications in the ATRX gene, leading to an absence of ATRX mRNA and of the protein. These findings underscore the need for including quantitative analyses to mutation analysis of the ATRX gene.

  12. 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.

  13. 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.

  14. 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...

  15. Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation.

    NARCIS (Netherlands)

    Verstraeten, V.L.; Broers, J.L.; Steensel, M.A.M. van; Zinn-Justin, S.; Ramaekers, F.C.S.; Steijlen, P.M.; Kamps, M.; Kuijpers, H.J.; Merckx, D.; Smeets, H.J.M.; Hennekam, R.C.M.; Marcelis, C.L.M.; Wijngaard, A. van de

    2006-01-01

    LMNA-associated progeroid syndromes have been reported with both recessive and dominant inheritance. We report a 2-year-old boy with an apparently typical Hutchinson-Gilford progeria syndrome (HGPS) due to compound heterozygous missense mutations (p.T528M and p.M540T) in LMNA. Both mutations affect

  16. 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.

  17. Down Syndrome: Eye Problems

    Science.gov (United States)

    ... En Español Read in Chinese What causes Down syndrome? Down syndrome is caused by a duplication of all ... in persons with Down syndrome. How common is Down syndrome? The frequency of Down syndrome is approximately 1 ...

  18. NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment

    Science.gov (United States)

    Casey, Jillian P.; Støve, Svein I.; McGorrian, Catherine; Galvin, Joseph; Blenski, Marina; Dunne, Aimee; Ennis, Sean; Brett, Francesca; King, Mary D.; Arnesen, Thomas; Lynch, Sally Ann

    2015-01-01

    We report two brothers from a non-consanguineous Irish family presenting with a novel syndrome characterised by intellectual disability, facial dysmorphism, scoliosis and long QT. Their mother has a milder phenotype including long QT. X-linked inheritance was suspected. Whole exome sequencing identified a novel missense variant (c.128 A > C; p.Tyr43Ser) in NAA10 (X chromosome) as the cause of the family’s disorder. Sanger sequencing confirmed that the mutation arose de novo in the carrier mother. NAA10 encodes the catalytic subunit of the major human N-terminal acetylation complex NatA. In vitro assays for the p.Tyr43Ser mutant enzyme showed a significant decrease in catalytic activity and reduced stability compared to wild-type Naa10 protein. NAA10 has previously been associated with Ogden syndrome, Lenz microphthalmia syndrome and non-syndromic developmental delay. Our findings expand the clinical spectrum of NAA10 and suggest that the proposed correlation between mutant Naa10 enzyme activity and phenotype severity is more complex than anticipated; the p.Tyr43Ser mutant enzyme has less catalytic activity than the p.Ser37Pro mutant associated with lethal Ogden syndrome but results in a milder phenotype. Importantly, we highlight the need for cardiac assessment in males and females with NAA10 variants as both patients and carriers can have long QT. PMID:26522270

  19. Differentiating cause-of-death terminology for deaths coded as sudden infant death syndrome, accidental suffocation, and unknown cause: an investigation using US death certificates, 2003-2004.

    Science.gov (United States)

    Kim, Shin Y; Shapiro-Mendoza, Carrie K; Chu, Susan Y; Camperlengo, Lena T; Anderson, Robert N

    2012-03-01

    We compared written text on infant death certificates for deaths coded as sudden infant death syndrome (R95), unknown cause (R99), and accidental suffocation (W75). Using US mortality files supplemented with the death certifiers' written text for all infant deaths with International Classification of Diseases (ICD)-10 assigned codes R95, R99, and W75, we formed cause-of-death subcategories from common themes identified from the written text. Among all infant deaths in 2003-2004, the underlying cause of death was listed as R99 for 2128 deaths, R95 for 4408 deaths, and W75 for 931 deaths. Among the postneonatal deaths, the differences in subcategories varied between assigned ICD-10 codes: for R99-coded deaths, 45.8% were categorized as "Unknown" and 48.6% as "Pending"; for R95-coded deaths, 67.7% were categorized as "sudden infant death syndrome (SIDS)"; and for W75-coded deaths, 76.4% were categorized as "Suffocation." Examination of the written text on the death certificates demonstrates variability in the assigned ICD-10 codes which could have an important effect on the estimates of SIDS cases in the United States.

  20. A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma.

    Directory of Open Access Journals (Sweden)

    Shazia Micheal

    Full Text Available Anterior segment dysgenesis (ASD disorders are a group of clinically and genetically heterogeneous phenotypes in which frequently cornea, iris, and lens are affected. This study aimed to identify novel mutations in PAX6, PITX2 and FOXC1 in families with anterior segment dysgenesis disorders.We studied 14 Pakistani and one Mexican family with Axenfeld Rieger syndrome (ARS; n = 10 or aniridia (n = 5. All affected and unaffected family members underwent full ophthalmologic and general examinations. Total genomic DNA was isolated from peripheral blood. PCR and Sanger sequencing were performed for the exons and intron-exon boundaries of the FOXC1, PAX6, and PITX2 genes.Mutations were identified in five of the 15 probands; four variants were novel and one variant was described previously. A novel de novo variant (c.225C>A; p.Tyr75* was identified in the PAX6 gene in two unrelated probands with aniridia. In addition, a known variant (c.649C>T; p.Arg217* in PAX6 segregated in a family with aniridia. In the FOXC1 gene, a novel heterozygous variant (c.454T>C; p.Trp152Arg segregated with the disease in a Mexican family with ARS. A novel homozygous variant (c.92_100del; p.Ala31_Ala33del in the FOXC1 gene segregated in a Pakistani family with ARS and congenital glaucoma.Our study expands the mutation spectrum of the PAX6 and FOXC1 genes in individuals with anterior segment dysgenesis disorders. In addition, our study suggests that FOXC1 mutations, besides typical autosomal dominant ARS, can also cause ARS with congenital glaucoma through an autosomal recessive inheritance pattern. Our results thus expand the disease spectrum of FOXC1, and may lead to a better understanding of the role of FOXC1 in development.

  1. Quantitative and sensitive detection of GNAS mutations causing mccune-albright syndrome with next generation sequencing.

    Science.gov (United States)

    Narumi, Satoshi; Matsuo, Kumihiro; Ishii, Tomohiro; Tanahashi, Yusuke; Hasegawa, Tomonobu

    2013-01-01

    Somatic activating GNAS mutations cause McCune-Albright syndrome (MAS). Owing to low mutation abundance, mutant-specific enrichment procedures, such as the peptide nucleic acid (PNA) method, are required to detect mutations in peripheral blood. Next generation sequencing (NGS) can analyze millions of PCR amplicons independently, thus it is expected to detect low-abundance GNAS mutations quantitatively. In the present study, we aimed to develop an NGS-based method to detect low-abundance somatic GNAS mutations. PCR amplicons encompassing exons 8 and 9 of GNAS, in which most activating mutations occur, were sequenced on the MiSeq instrument. As expected, our NGS-based method could sequence the GNAS locus with very high read depth (approximately 100,000) and low error rate. A serial dilution study with use of cloned mutant and wildtype DNA samples showed a linear correlation between dilution and measured mutation abundance, indicating the reliability of quantification of the mutation. Using the serially diluted samples, the detection limits of three mutation detection methods (the PNA method, NGS, and combinatory use of PNA and NGS [PNA-NGS]) were determined. The lowest detectable mutation abundance was 1% for the PNA method, 0.03% for NGS and 0.01% for PNA-NGS. Finally, we analyzed 16 MAS patient-derived leukocytic DNA samples with the three methods, and compared the mutation detection rate of them. Mutation detection rate of the PNA method, NGS and PNA-NGS in 16 patient-derived peripheral blood samples were 56%, 63% and 75%, respectively. In conclusion, NGS can detect somatic activating GNAS mutations quantitatively and sensitively from peripheral blood samples. At present, the PNA-NGS method is likely the most sensitive method to detect low-abundance GNAS mutation.

  2. Quantitative and sensitive detection of GNAS mutations causing mccune-albright syndrome with next generation sequencing.

    Directory of Open Access Journals (Sweden)

    Satoshi Narumi

    Full Text Available Somatic activating GNAS mutations cause McCune-Albright syndrome (MAS. Owing to low mutation abundance, mutant-specific enrichment procedures, such as the peptide nucleic acid (PNA method, are required to detect mutations in peripheral blood. Next generation sequencing (NGS can analyze millions of PCR amplicons independently, thus it is expected to detect low-abundance GNAS mutations quantitatively. In the present study, we aimed to develop an NGS-based method to detect low-abundance somatic GNAS mutations. PCR amplicons encompassing exons 8 and 9 of GNAS, in which most activating mutations occur, were sequenced on the MiSeq instrument. As expected, our NGS-based method could sequence the GNAS locus with very high read depth (approximately 100,000 and low error rate. A serial dilution study with use of cloned mutant and wildtype DNA samples showed a linear correlation between dilution and measured mutation abundance, indicating the reliability of quantification of the mutation. Using the serially diluted samples, the detection limits of three mutation detection methods (the PNA method, NGS, and combinatory use of PNA and NGS [PNA-NGS] were determined. The lowest detectable mutation abundance was 1% for the PNA method, 0.03% for NGS and 0.01% for PNA-NGS. Finally, we analyzed 16 MAS patient-derived leukocytic DNA samples with the three methods, and compared the mutation detection rate of them. Mutation detection rate of the PNA method, NGS and PNA-NGS in 16 patient-derived peripheral blood samples were 56%, 63% and 75%, respectively. In conclusion, NGS can detect somatic activating GNAS mutations quantitatively and sensitively from peripheral blood samples. At present, the PNA-NGS method is likely the most sensitive method to detect low-abundance GNAS mutation.

  3. 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.

  4. Takotsubo Syndrome as a Cause of False Acute Abdomen in the Early Postoperative Period After Bariatric Surgery-a Report of Two Cases.

    Science.gov (United States)

    Viegas, Fabio; Viegas, Carla; França, Enio; Kleuser, Klaus; de Barros, Fernando

    2016-10-01

    Takotsubo syndrome, also known as broken-heart syndrome, stress-induced cardiomyopathy or transient apical ballooning syndrome, is a transient disorder characterized by segmental left ventricular failure in the absence of obstructive coronary artery disease. Most cases of Takotsubo syndrome are caused by acute stress that leads to a sudden, temporary weakening of the cardiac musculature. This stress triggers a rise in circulating catecholamine levels that results in acute ventricular dysfunction. In this report, we describe two cases of Takotsubo syndrome in the early postoperative period after bariatric surgery.

  5. Cerebral salt wasting syndrome in brain injury patients: a potential cause of hyponatremia.

    Science.gov (United States)

    Zafonte, R D; Mann, N R

    1997-05-01

    Hyponatremia is a common neuromedical problem seen in survivors of central nervous system injury. The etiology of this hyponatremia is often diagnosed as syndrome of inappropriate diuretic hormone (SIADH). Fluid restriction is usually the first line of treatment. However, this can exacerbate vasospasm and produce resultant ischemia. Cerebral salt wasting is a syndrome of renal sodium loss that may occur commonly after central nervous system injury, yet remains unrecognized. Treatment of cerebral salt wasting consists of hydration and salt replacement. This article uses a case report to discuss the importance of recognition of this syndrome, and treatment concerns are reviewed.

  6. Carpal tunnel syndrome caused by a giant cell tumour of the flexor tendon sheath.

    Science.gov (United States)

    Meek, Marcel F; Sheikh, Zahid A; Quinton, David N

    2014-02-01

    A 76-year-old woman developed right carpal tunnel syndrome after being conservatively treated for tenosynovitis of the flexor tendons with associated mild carpal tunnel syndrome. A magnetic resonance imaging scan showed a tumour in the carpal tunnel. Re-exploration showed that the median nerve was being compressed by a giant cell tumour of the flexor tendon sheaths. Appropriate imaging is advised in patients with additional findings (such as swelling) or in patients with secondary carpal tunnel syndrome and incomplete response to conservative treatment, to exclude a space-occupying lesion.

  7. Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

    Science.gov (United States)

    Cullup, Thomas; Kho, Ay L.; Dionisi-Vici, Carlo; Brandmeier, Birgit; Smith, Frances; Urry, Zoe; Simpson, Michael A.; Yau, Shu; Bertini, Enrico; McClelland, Verity; Al-Owain, Mohammed; Koelker, Stefan; Koerner, Christian; Hoffmann, Georg F.; Wijburg, Frits A.; Hoedt, Amber E. ten; Rogers, Curtis; Manchester, David; Miyata, Rie; Hayashi, Masaharu; Said, Elizabeth; Soler, Doriette; Kroisel, Peter M.; Windpassinger, Christian; Filloux, Francis M.; Al-Kaabi, Salwa; Hertecant, Jozef; Del Campo, Miguel; Buk, Stefan; Bodi, Istvan; Goebel, Hans-Hilmar; Sewry, Caroline A.; Abbs, Stephen; Mohammed, Shehla; Josifova, Dragana; Gautel, Mathias; Jungbluth, Heinz

    2012-01-01

    Vici syndrome is a recessively inherited multisystem disorder characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. To investigate the molecular basis of Vici syndrome, we carried out exome and Sanger sequence analysis in a cohort of 18 patients. We identified recessive mutations in EPG5 (previously KIAA1632), indicating a causative role in Vici syndrome. EPG5 is the human homologue of the metazoan-specific autophagy gene epg-5, encoding a key autophagy regulator (ectopic P-granules autophagy protein 5) implicated in the formation of autolysosomes. Further studies demonstrated a severe block of autophagosomal clearance in muscle and fibroblasts from EPG5 mutant patients, resulting in autophagic cargo accumulation in autophagosomes. These findings indicate Vici syndrome as a paradigm of a human multisystem disorder associated with defective autophagy, and suggest a fundamental role of the autophagy pathway in the anatomical and functional formation of organs such as the brain, the heart and the immune system. PMID:23222957

  8. Acute calcifying tendonitis--an unusual cause of carpal tunnel syndrome.

    Science.gov (United States)

    Din, R; Giannikas, K; El-Hadidi, M

    2001-03-01

    We report a rare case of acute calcifying tendinitis resulting in acute carpal tunnel syndrome. Acute medical staff should be aware of this condition and the importance of early referral to avoid long term median nerve neuropathy.

  9. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

    NARCIS (Netherlands)

    van Reeuwijk, J; Janssen, M; van den Elzen, C; de Bernabe, DBV; Sabatelli, P; Merlini, L; Boon, M; Scheffer, H; Brockington, M; Muntoni, F; Huynen, MA; Verrips, A; Walsh, CA; Barth, PG; Brunner, HG; van Bokhoven, H

    2005-01-01

    Background: Walker-Warburg syndrome (WWS) is an autosomal recessive condition characterised by congenital muscular dystrophy, structural brain defects, and eye malformations. Typical brain abnormalities are hydrocephalus, lissencephaly, agenesis of the corpus callosum, fusion of the hemispheres, cer

  10. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.

    NARCIS (Netherlands)

    Reeuwijk, J. van; Janssen, M.; Elzen, C. van der; Beltran Valero de Bernabe, D.; Sabatelli, P.; Merlini, L.; Boon, M.; Scheffer, H.; Brockington, M.; Muntoni, F.; Huynen, M.A.; Verrips, A.; Walsh, C.A.; Barth, P.G.; Brunner, H.G.; Bokhoven, J.H.L.M. van

    2005-01-01

    BACKGROUND: Walker-Warburg syndrome (WWS) is an autosomal recessive condition characterised by congenital muscular dystrophy, structural brain defects, and eye malformations. Typical brain abnormalities are hydrocephalus, lissencephaly, agenesis of the corpus callosum, fusion of the hemispheres, cer

  11. Feasibility of radiation dose range capable to cause subacute course of radiation syndrome

    Directory of Open Access Journals (Sweden)

    Krasnyuk V.I.

    2013-12-01

    Full Text Available There had been analysed cases of radiation syndrome which clinical picture takes an intermediate place between the acute radiation syndrome (ARS and the chronic radiation syndrome (CRS, and differs from them because of a subacute. This variant of disease can develop as a result of the fractioned or prolonged radiation lasting from several days to several weeks. Development of primary reaction took place only in the extremely hard cases which ends with an early fatality. After the general radiation the marrow failure was characterized by directly expressed formation and restoration period, specific features of which were defined by the radiation duration, a total dose and dose derivative. The most typical outcomes of a subacute radiation syndrome are death from infectious complications in the period of an eruptive phase or leukosis development in the remote period.

  12. Unilateral adrenalectomy can be an alternative therapy for infantile onset Cushing' s syndrome caused by ACTH-independent macronodular adrenal hyperplasia with McCune-Albright syndrome.

    Science.gov (United States)

    Hamajima, Takashi; Maruwaka, Kaori; Homma, Keiko; Matsuo, Kumihiro; Fujieda, Kenji; Hasegawa, Tomonobu

    2010-01-01

    We report herein the case of a 1-year-old boy with McCune-Albright syndrome (MAS) who presented with infantile-onset Cushing' s syndrome caused by ACTH independent macronodular adrenal hyperplasia (AIMAH). Abdominal CT, MRI, and adrenal scintigraphy with (131)I-adosterol identified bilateral adrenal involvement with the left adrenal gland being larger and functionally more active. Unilateral adrenalectomy of the left gland was performed and ameliorated many clinical symptoms, such as Cushingoid appearance and height restriction, and it also normalized many endocrinological data, such as diurnal rhythms of ACTH and cortisol, ACTH and cortisol responses to CRH, and urinary 24 hr free cortisol. Glucocorticoid was replaced for the first 1 year and 6 months after the operation. One adrenal crisis episode occurred at 3 weeks after the operation, but none have occurred since. These results suggest that unilateral adrenalectomy of the larger gland can be an alternative therapy for infantile onset Cushing' s syndrome caused by AIMAH with MAS, when asymmetric involvement is evident and the smaller gland is not markedly enlarged.

  13. 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.

  14. A common cause of irritable bowel syndrome and diverticulitis: chronic distal colon distention from sedentary behavior and excessive dietary fiber.

    Science.gov (United States)

    Robbins, Steven E

    2013-07-01

    A multidisciplinary analysis restricted to validated reports was applied to the cause and management of irritable bowel syndrome and diverticular formation and subsequent diverticulitis. There is evidence that they are linked - both caused by attenuation of gravitational aid to distal intestinal motility, resulting in damaging chronic intestinal distention. Both irritable bowel syndrome and diverticular formation and subsequent diverticulitis have worsened in recent years owing to excessive dietary fiber intake. Potential solutions include augmenting weight-bearing time, moderating dietary fiber consumption, stimulating distal colon evacuation through chemical means and developing pharmaceuticals to block the reflexive distal colon distention associated with fiber consumption. Amplified intestinal distention commenced when all classes of Renaissance Europeans became the first group in human history to wear shoes, which led to a sedentary lifestyle that moderates gravitational aid to colon motility and evacuation.

  15. [Kimura's disease: an unrecognized cause of adult-onset nephrotic syndrome with minimal change disease].

    Science.gov (United States)

    Shehwaro, N; Langlois, A-L; Gueutin, V; Debchi, L; Charlotte, F; Rouvier, P; Rottembourg, J; Izzedine, H

    2014-02-01

    Kimura's disease (KD) is an angiolymphoid proliferative disorder of soft tissue with eosinophilia, with a predilection for head and neck regions in young Oriental men. Kidney disease is thought to be rare in KD. About a case of adult-onset nephrotic syndrome with minimal change disease, we comment Kimura's disease and its associated kidney damage. Kimura disease should be suspected and included in the diagnosis of adult-onset nephrotic syndrome with minimal change disease.

  16. 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

  17. Emergent severe acute respiratory distress syndrome caused by adenovirus type 55 in immunocompetent adults in 2013: a prospective observational study

    OpenAIRE

    Sun, Bing; He, Hangyong; Wang, Zheng; Qu, Jiuxin; Li, Xuyan; Chengjun BAN; Wan, Jun; Cao, Bin; Tong, Zhaohui; Wang, Chen

    2014-01-01

    Introduction Since 2008, severe cases of emerging human adenovirus type 55 (HAdV-55) in immunocompetent adults have been reported sporadically in China. The clinical features and outcomes of the most critically ill patients with severe acute respiratory distress syndrome (ARDS) caused by HAdV-55 requiring invasive mechanical ventilation (IMV) and/or extracorporeal membrane oxygenation (ECMO) are lacking. Methods We conducted a prospective, single-center observational study of pneumonia with A...

  18. An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogs

    OpenAIRE

    Fyfe, John C.; Hemker, Shelby L.; Venta, Patrick J.; Fitzgerald, Caitlin A.; Outerbridge, Catherine A.; Myers, Sherry L.; Giger, Urs

    2013-01-01

    Cobalamin malabsorption accompanied by selective proteinuria is an autosomal recessive disorder known as Imerslund-Gräsbeck syndrome in humans and was previously described in dogs due to amnionless (AMN) mutations. The resultant vitamin B12 deficiency causes dyshematopoiesis, lethargy, failure to thrive, and life-threatening metabolic disruption in the juvenile period. We studied 3 kindreds of border collies with cobalamin malabsorption and mapped the disease locus in affected dogs to a 2.9 M...

  19. Novel group A rotavirus G8 P[1] as primary cause of an ovine diarrheic syndrome outbreak in weaned lambs

    OpenAIRE

    Galindo-Cardiel, I.; Fernández-Jiménez, M.; Luján, L.; Buesa, J.; Espada, J.; Fantova, E.; Blanco, J; Segalés, J.; Badiola, J. J.

    2011-01-01

    Abstract Rotavirus is a worldwide major cause of diarrhea outbreaks in neonatal ruminants. An outbreak of ovine diarrheic syndrome (ODS) in 50-75 days-old lambs (weaned lambs) is described. Fecal immunochromatography and intestinal immunohistochemistry for rotavirus group A were performed. In addition, semi-nested multiplex RT-PCR for G and P rotavirus genotyping in combination with sequencing were performed, to support the diagnosis and identify the viral strain. A novel ovine rot...

  20. Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes–Brocks Syndrome

    Science.gov (United States)

    Webb, Bryn D.; Metikala, Sanjeeva; Wheeler, Patricia G.; Sherpa, Mingma D.; Houten, Sander M.; Horb, Marko E.; Schadt, Eric E.

    2017-01-01

    A heterozygous nonsense variant was identified in dapper, antagonist of beta-catenin, 1 (DACT1) via whole-exome sequencing in family members with imperforate anus, structural renal abnormalities, genitourinary anomalies, and/or ear anomalies. The DACT1 c.1256G>A;p.Trp419* variant segregated appropriately in the family consistent with an autosomal dominant mode of inheritance. DACT1 is a member of the Wnt-signaling pathway, and mice homozygous for null alleles display multiple congenital anomalies including absent anus with blind-ending colon and genitourinary malformations. To investigate the DACT1 c.1256G>A variant, HEK293 cells were transfected with mutant DACT1 cDNA plasmid, and immunoblotting revealed stability of the DACT1 p.Trp419* protein. Overexpression of DACT1 c.1256G>A mRNA in Xenopus embryos revealed a specific gastrointestinal phenotype of enlargement of the proctodeum. Together, these findings suggest that the DACT1 c.1256G>A nonsense variant is causative of a specific genetic syndrome with features overlapping Townes–Brocks syndrome. PMID:28054444

  1. 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.

  2. PROTOCOL FOR THE EVALUATION AND FUNCTIONAL RE-EDUCATION OF THE LUMBARSACRAL PAIN SYNDROME WITH A MUSCULAR-LIGAMENT CAUSE

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    Călina Mirela-Lucia

    2009-03-01

    Full Text Available The current paper aims to evaluate the lumbar-sacral algo-functional syndromes with a muscular-ligament cause and to establish a staged program for its functional recovery which would also prevent reoccurrences and/ or complications, these being relatively frequent and with important functional implications [1]. These ailments,specific to patients who are at an active age have a particular social impact, important morbidity and can be easily mistaken for more serious lumbar-sacral ailments, thus leading to disproportionately serious, but inefficient for thereal cause, treatments [4].The study was made over a period of 6 months, on 18 patients with lumbar-sacral syndrome with a muscularligament cause, diagnosed as a result of clinical and paraclinic evaluation, an alternative etiology of the syndrome being excluded. The patients were integrated into a functional re-education programme which included drug therapy (anti-inflammatory +/- relaxant medication, physically-kinetically supported (thermal-kinetic-massage therapy, staged into 2 weeks, one and 3-6 months intervals, respectively. The results obtained emphasise the improvement in the clinical parameters form one stage to the other, in the third stage of the programme reaching asemi-complete (over 90% recovery of the affected areas, compared to the initial stages.

  3. Endothelial neuropilin disruption in mice causes DiGeorge syndrome-like malformations via mechanisms distinct to those caused by loss of Tbx1.

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    Jingjing Zhou

    Full Text Available The spectrum of human congenital malformations known as DiGeorge syndrome (DGS is replicated in mice by mutation of Tbx1. Vegfa has been proposed as a modifier of DGS, based in part on the occurrence of comparable phenotypes in Tbx1 and Vegfa mutant mice. Many additional genes have been shown to cause DGS-like phenotypes in mice when mutated; these generally intersect in some manner with Tbx1, and therefore impact the same developmental processes in which Tbx1 itself is involved. In this study, using Tie2Cre, we show that endothelial-specific mutation of the gene encoding the VEGFA coreceptor neuropilin-1 (Nrp1 also replicates the most prominent terminal phenotypes that typify DGS. However, the developmental etiologies of these defects are fundamentally different from those caused by absence of TBX1. In Tie2Cre/Nrp1 mutants, initial pharyngeal organization is normal but subsequent pharyngeal organ growth is impaired, second heart field differentiation is normal but cardiac outflow tract cushion organization is distorted, neural crest cell migration is normal, and palatal mesenchyme proliferation is impaired with no change in apoptosis. Our results demonstrate that impairment of VEGF-dependent endothelial pathways leads to a spectrum of DiGeorge syndrome-type malformations, through processes that are distinguishable from those controlled by Tbx1.

  4. Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

    Science.gov (United States)

    Bertoli-Avella, Aida M.; Gillis, Elisabeth; Morisaki, Hiroko; Verhagen, Judith M.A.; de Graaf, Bianca M.; van de Beek, Gerarda; Gallo, Elena; Kruithof, Boudewijn P.T.; Venselaar, Hanka; Myers, Loretha A.; Laga, Steven; Doyle, Alexander J.; Oswald, Gretchen; van Cappellen, Gert W.A.; Yamanaka, Itaru; van der Helm, Robert M.; Beverloo, Berna; de Klein, Annelies; Pardo, Luba; Lammens, Martin; Evers, Christina; Devriendt, Koenraad; Dumoulein, Michiel; Timmermans, Janneke; Bruggenwirth, Hennie T.; Verheijen, Frans; Rodrigus, Inez; Baynam, Gareth; Kempers, Marlies; Saenen, Johan; Van Craenenbroeck, Emeline M.; Minatoya, Kenji; Matsukawa, Ritsu; Tsukube, Takuro; Kubo, Noriaki; Hofstra, Robert; Goumans, Marie Jose; Bekkers, Jos A.; Roos-Hesselink, Jolien W.; van de Laar, Ingrid M.B.H.; Dietz, Harry C.; Van Laer, Lut; Morisaki, Takayuki; Wessels, Marja W.; Loeys, Bart L.

    2015-01-01

    Background Aneurysms affecting the aorta are a common condition associated with high mortality as a result of aortic dissection or rupture. Investigations of the pathogenic mechanisms involved in syndromic types of thoracic aortic aneurysms, such as Marfan and Loeys-Dietz syndromes, have revealed an important contribution of disturbed transforming growth factor (TGF)-β signaling. Objectives This study sought to discover a novel gene causing syndromic aortic aneurysms in order to unravel the underlying pathogenesis. Methods We combined genome-wide linkage analysis, exome sequencing, and candidate gene Sanger sequencing in a total of 470 index cases with thoracic aortic aneurysms. Extensive cardiological examination, including physical examination, electrocardiography, and transthoracic echocardiography was performed. In adults, imaging of the entire aorta using computed tomography or magnetic resonance imaging was done. Results Here, we report on 43 patients from 11 families with syndromic presentations of aortic aneurysms caused by TGFB3 mutations. We demonstrate that TGFB3 mutations are associated with significant cardiovascular involvement, including thoracic/abdominal aortic aneurysm and dissection, and mitral valve disease. Other systemic features overlap clinically with Loeys-Dietz, Shprintzen-Goldberg, and Marfan syndromes, including cleft palate, bifid uvula, skeletal overgrowth, cervical spine instability and clubfoot deformity. In line with previous observations in aortic wall tissues of patients with mutations in effectors of TGF-β signaling (TGFBR1/2, SMAD3, and TGFB2), we confirm a paradoxical up-regulation of both canonical and noncanonical TGF-β signaling in association with up-regulation of the expression of TGF-β ligands. Conclusions Our findings emphasize the broad clinical variability associated with TGFB3 mutations and highlight the importance of early recognition of the disease because of high cardiovascular risk. PMID:25835445

  5. 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

  6. CHARGE syndrome as unusual cause of hypogonadism: endocrine and molecular evaluation.

    Science.gov (United States)

    Foppiani, Luca; Maffè, A; Forzano, F

    2010-10-01

    Coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies (CHARGE) syndrome is a genetic syndrome in which hypogonadism is a frequent feature. A causative mutation within the chromodomain helicase DNA-binding protein-7 gene, which plays an important role in the embryonic development, is present in 2/3 of affected patients. We describe the clinical, hormonal and molecular characteristics of a young man from Ecuador who was diagnosed as having CHARGE syndrome at an adult age. The patient showed several phenotypic features of the syndrome, associated with a prepubertal state and cryptorchidism; hypogonadotrophic hypogonadism with undetectable testosterone levels not responsive to hCG testing and severe osteoporosis were ascertained. Molecular evaluation of the CHD7 gene showed the novel frameshift truncating heterozygous mutation p.Tyr1046Glyfs*23 in exon 12. Magnetic resonance imaging revealed mild hypoplasia of the pituitary gland and hypoplasia of the posterior cranial fossa. Parenteral testosterone therapy led to sexual development over time and, in combination with diphophonate therapy and calcium-vitamin D supplementation, significantly improved bone mineralisation. Early proper hormonal treatment of hypogonadism in patients with complex genetic syndromes is important to achieve normal sexual maturation, improve quality of life and avoid significant comorbidities, such as osteoporosis.

  7. Hip abductor weakness is not the cause for iliotibial band syndrome.

    Science.gov (United States)

    Grau, S; Krauss, I; Maiwald, C; Best, R; Horstmann, T

    2008-07-01

    Muscular deficits in the hip abductors are presumed to be a major factor in the development of Iliotibial Band Syndrome in runners. No definite relationship between muscular weakness of the hip abductors and the development of Iliotibial Band Syndrome or different ratios between hip adduction to abduction have been reported so far. Isokinetic measurements were taken from 10 healthy runners and 10 runners with Iliotibial Band Syndrome. Primary outcome variables were concentric, eccentric, and isometric peak torque of the hip abductors and adductors at 30 degrees/s, and a concentric endurance quotient at the same angle velocity. Differences in muscle strength of the hip abductors between healthy (CO) and injured runners (ITBS) were not statistically significant in any of the muscle functions tested. Both groups showed the same strength differences between hip adduction and abduction, and increased strength in hip adduction. Weakness of hip abductors does not seem to play a role in the etiology of Iliotibial Band Syndrome in runners, since dynamic and static strength measurements did not differ between groups, and differences between hip abduction and adduction were the same. Strengthening of hip abductors seems to have little effect on the prevention of Iliotibial Band Syndrome in runners.

  8. Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.

    Science.gov (United States)

    Doyle, Alexander J; Doyle, Jefferson J; Bessling, Seneca L; Maragh, Samantha; Lindsay, Mark E; Schepers, Dorien; Gillis, Elisabeth; Mortier, Geert; Homfray, Tessa; Sauls, Kimberly; Norris, Russell A; Huso, Nicholas D; Leahy, Dan; Mohr, David W; Caulfield, Mark J; Scott, Alan F; Destrée, Anne; Hennekam, Raoul C; Arn, Pamela H; Curry, Cynthia J; Van Laer, Lut; McCallion, Andrew S; Loeys, Bart L; Dietz, Harry C

    2012-11-01

    Elevated transforming growth factor (TGF)-β signaling has been implicated in the pathogenesis of syndromic presentations of aortic aneurysm, including Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS). However, the location and character of many of the causal mutations in LDS intuitively imply diminished TGF-β signaling. Taken together, these data have engendered controversy regarding the specific role of TGF-β in disease pathogenesis. Shprintzen-Goldberg syndrome (SGS) has considerable phenotypic overlap with MFS and LDS, including aortic aneurysm. We identified causative variation in ten individuals with SGS in the proto-oncogene SKI, a known repressor of TGF-β activity. Cultured dermal fibroblasts from affected individuals showed enhanced activation of TGF-β signaling cascades and higher expression of TGF-β-responsive genes relative to control cells. Morpholino-induced silencing of SKI paralogs in zebrafish recapitulated abnormalities seen in humans with SGS. These data support the conclusions that increased TGF-β signaling is the mechanism underlying SGS and that high signaling contributes to multiple syndromic presentations of aortic aneurysm.

  9. 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.

  10. Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.

    Science.gov (United States)

    Bowen, Margot E; Boyden, Eric D; Holm, Ingrid A; Campos-Xavier, Belinda; Bonafé, Luisa; Superti-Furga, Andrea; Ikegawa, Shiro; Cormier-Daire, Valerie; Bovée, Judith V; Pansuriya, Twinkal C; de Sousa, Sérgio B; Savarirayan, Ravi; Andreucci, Elena; Vikkula, Miikka; Garavelli, Livia; Pottinger, Caroline; Ogino, Toshihiko; Sakai, Akinori; Regazzoni, Bianca M; Wuyts, Wim; Sangiorgi, Luca; Pedrini, Elena; Zhu, Mei; Kozakewich, Harry P; Kasser, James R; Seidman, Jon G; Kurek, Kyle C; Warman, Matthew L

    2011-04-01

    Metachondromatosis (MC) is a rare, autosomal dominant, incompletely penetrant combined exostosis and enchondromatosis tumor syndrome. MC is clinically distinct from other multiple exostosis or multiple enchondromatosis syndromes and is unlinked to EXT1 and EXT2, the genes responsible for autosomal dominant multiple osteochondromas (MO). To identify a gene for MC, we performed linkage analysis with high-density SNP arrays in a single family, used a targeted array to capture exons and promoter sequences from the linked interval in 16 participants from 11 MC families, and sequenced the captured DNA using high-throughput parallel sequencing technologies. DNA capture and parallel sequencing identified heterozygous putative loss-of-function mutations in PTPN11 in 4 of the 11 families. Sanger sequence analysis of PTPN11 coding regions in a total of 17 MC families identified mutations in 10 of them (5 frameshift, 2 nonsense, and 3 splice-site mutations). Copy number analysis of sequencing reads from a second targeted capture that included the entire PTPN11 gene identified an additional family with a 15 kb deletion spanning exon 7 of PTPN11. Microdissected MC lesions from two patients with PTPN11 mutations demonstrated loss-of-heterozygosity for the wild-type allele. We next sequenced PTPN11 in DNA samples from 54 patients with the multiple enchondromatosis disorders Ollier disease or Maffucci syndrome, but found no coding sequence PTPN11 mutations. We conclude that heterozygous loss-of-function mutations in PTPN11 are a frequent cause of MC, that lesions in patients with MC appear to arise following a "second hit," that MC may be locus heterogeneous since 1 familial and 5 sporadically occurring cases lacked obvious disease-causing PTPN11 mutations, and that PTPN11 mutations are not a common cause of Ollier disease or Maffucci syndrome.

  11. Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.

    Directory of Open Access Journals (Sweden)

    Margot E Bowen

    2011-04-01

    Full Text Available Metachondromatosis (MC is a rare, autosomal dominant, incompletely penetrant combined exostosis and enchondromatosis tumor syndrome. MC is clinically distinct from other multiple exostosis or multiple enchondromatosis syndromes and is unlinked to EXT1 and EXT2, the genes responsible for autosomal dominant multiple osteochondromas (MO. To identify a gene for MC, we performed linkage analysis with high-density SNP arrays in a single family, used a targeted array to capture exons and promoter sequences from the linked interval in 16 participants from 11 MC families, and sequenced the captured DNA using high-throughput parallel sequencing technologies. DNA capture and parallel sequencing identified heterozygous putative loss-of-function mutations in PTPN11 in 4 of the 11 families. Sanger sequence analysis of PTPN11 coding regions in a total of 17 MC families identified mutations in 10 of them (5 frameshift, 2 nonsense, and 3 splice-site mutations. Copy number analysis of sequencing reads from a second targeted capture that included the entire PTPN11 gene identified an additional family with a 15 kb deletion spanning exon 7 of PTPN11. Microdissected MC lesions from two patients with PTPN11 mutations demonstrated loss-of-heterozygosity for the wild-type allele. We next sequenced PTPN11 in DNA samples from 54 patients with the multiple enchondromatosis disorders Ollier disease or Maffucci syndrome, but found no coding sequence PTPN11 mutations. We conclude that heterozygous loss-of-function mutations in PTPN11 are a frequent cause of MC, that lesions in patients with MC appear to arise following a "second hit," that MC may be locus heterogeneous since 1 familial and 5 sporadically occurring cases lacked obvious disease-causing PTPN11 mutations, and that PTPN11 mutations are not a common cause of Ollier disease or Maffucci syndrome.

  12. Mapping and exome sequencing identifies a mutation in the IARS gene as the cause of hereditary perinatal weak calf syndrome.

    Directory of Open Access Journals (Sweden)

    Takashi Hirano

    Full Text Available We identified an IARS (isoleucyl-tRNA synthetase c.235G>C (p.Val79Leu substitution as the causative mutation for neonatal weakness with intrauterine growth retardation (perinatal weak calf syndrome. In Japanese Black cattle, the syndrome was frequently found in calves sired by Bull A. Hence, we employed homozygosity mapping and linkage analysis. In order to identify the perinatal weak calf syndrome locus in a 4.04-Mb region of BTA 8, we analysed a paternal half-sibling family with a BovineSNP50 BeadChip and microsatellites. In this critical region, we performed exome sequencing to identify a causative mutation. Three variants were detected as possible candidates for causative mutations that were predicted to disrupt the protein function, including a G>C (p.Val79Leu mutation in IARS c.235. The IARS c.235G>C mutation was not a homozygous risk allele in the 36 healthy offspring of Bull A. Moreover, the IARS Val79 residue and its flanking regions were evolutionarily and highly conserved. The IARS mutant (Leu79 had decreased aminoacylation activity. Additionally, the homozygous mutation was not found in any of 1526 healthy cattle. Therefore, we concluded that the IARS c.235G>C mutation was the cause of hereditary perinatal weak calf syndrome.

  13. 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.

  14. Multiple nevoid basal cell carcinoma syndrome associated with congenital orbital teratoma, caused by a PTCH1 frameshift mutation.

    Science.gov (United States)

    Rodrigues, A L; Carvalho, A; Cabral, R; Carneiro, V; Gilardi, P; Duarte, C P; Puente-Prieto, J; Santos, P; Mota-Vieira, L

    2014-07-25

    Gorlin-Goltz syndrome, or nevoid basal cell carcinoma syndrome (NBCCS), is a rare autosomal dominant disorder caused by mutations in the PTCH1 gene and shows a high level of penetrance and variable expressivity. The syndrome is characterized by developmental abnormalities or neoplasms and is diagnosed with 2 major criteria, or with 1 major and 2 minor criteria. Here, we report a new clinical manifestation associated with this syndrome in a boy affected by NBCCS who had congenital orbital teratoma at birth. Later, at the age of 15 years, he presented with 4 major and 4 minor criteria of NBCCS, including multiple basal cell carcinoma and 2 odontogenic keratocysts of the jaw, both confirmed by histology, more than 5 palmar pits, calcification of the cerebral falx, extensive meningeal calcifications, macrocephaly, hypertelorism, frontal bosses, and kyphoscoliosis. PTCH1 mutation analysis revealed the heterozygous germline mutation c.290dupA. This mutation generated a frameshift within exon 2 and an early premature stop codon (p.Asn97LysfsX43), predicting a truncated protein with complete loss of function. Identification of this mutation is useful for genetic counseling. Although the clinical symptoms are well-known, our case contributes to the understanding of phenotypic variability in NBCCS, highlighting that PTCH1 mutations cannot be used for predicting disease burden and reinforces the need of a multidisciplinary team in the diagnosis, treatment, and follow-up of NBCCS patients.

  15. A thymic neuroendocrine tumour in a young female: a rare cause of relapsing and remitting Cushing’s syndrome

    Directory of Open Access Journals (Sweden)

    M J Trott

    2016-05-01

    Full Text Available 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.

  16. An unusual cause of recurrent spontaneous pneumothorax: the Mounier-Kuhn syndrome.

    Science.gov (United States)

    Unlu, Elif Nisa; Annakkaya, Ali Nihat; Balbay, Ege Gulec; Aydın, Leyla Yilmaz; Safcı, Sinem; Boran, Mertay; Guclu, Derya

    2016-01-01

    We present a case of 63-year-old man who was referred to the emergency department with a right-sided pneumothorax. He had a history of spontaneous pneumothorax for 2 times. The chest computed tomographic scan showed tracheobronchomegaly with an increase in the diameter of the trachea and right and left main bronchus. Fiberoptic bronchoscopy revealed enlarged trachea and both main bronchus with diverticulas. These findings are consistent with a diagnosis of Mounier-Kuhn syndrome. Mounier-Kuhn syndrome is a rare clinical and radiologic condition. It is characterized by a tracheal and bronchial dilation. Diagnosis is made by computed tomography and bronchoscopy. Mounier-Kuhn syndrome should be kept in mind in the differential diagnosis of recurrent spontaneous pneumothorax.

  17. A genetic and molecular update on adrenocortical causes of Cushing syndrome.

    Science.gov (United States)

    Lodish, Maya; Stratakis, Constantine A

    2016-05-01

    Primary adrenal Cushing syndrome is the result of cortisol hypersecretion mainly by adenomas and, rarely, by bilateral micronodular or macronodular adrenocortical hyperplasia. cAMP-dependent protein kinase A (PKA) signalling is the major activator of cortisol secretion in the adrenal cortex. Many adenomas and hyperplasias associated with primary hypercortisolism carry somatic or germline mutations in genes that encode constituents of the cAMP-PKA pathway. In this Review, we discuss Cushing syndrome and its linkage to dysregulated cAMP-PKA signalling, with a focus on genetic findings in the past few years. In addition, we discuss the presence of germline inactivating mutations in ARMC5 in patients with primary bilateral macronodular adrenocortical hyperplasia. This finding has implications for genetic counselling of affected patients; hitherto, most patients with this form of adrenal hyperplasia and Cushing syndrome were thought to have a sporadic and not a familial disorder.

  18. Catheter-directed Thrombolysis in Acute Superior Vena Cava Syndrome Caused by Central Venous Catheters.

    Science.gov (United States)

    Cui, Jie; Kawai, Tasuo; Irani, Zubin

    2015-01-01

    Indwelling central venous catheters have been reported to increase the risk of superior venous cava (SVC) syndrome. This case report describes the development of acute SVC syndrome in a 28-year-old woman with end-stage renal disease implanted with a left-side hemodialysis reliable outflow graft and a right-side double lumen hemodialysis catheter via internal jugular veins. Her symptoms were not alleviated after catheter removal and systemic anticoagulation therapy. She was eventually treated with catheter-directed thrombolysis and a predischarge computer tomographic venogram on postthrombolytic procedure day 7 showed patent central veins and patient remained asymptomatic. This case demonstrates that catheter-directed thrombolysis can be safely employed to treat refractory catheter-induced acute SVC syndrome in end-stage renal disease patients.

  19. Pallister-Killian Syndrome (PKS) as a Cause of Mental Retardation.

    Science.gov (United States)

    Shamdeen, A; Meyer, S; Gottschling, S; Oehl-Jaschkowitz, B; Gortner, L; Shamdeen, M G

    2009-01-01

    Pallister-Killian syndrome (PKS; OMIM: # 601803) is a rare sporadic syndrome of multiple congenital anomalies attributable to the presence of a de novo mosaic supernumerary isochromosome 12p [i(12p)]. The syndrome presents with a recognizable pattern of findings including: pigmentary skin changes, characteristic facial features (sparse anterior scalp hair, flattened midface, macrostomia, and coarsening of the facial features), and developmental delay. The developmental phenotype of PKS is quite variable, but most are considered to fall into the profound range of developmental retardation. We report on two individuals with classical features of PKS. Notably, in one child the neuropsychological development was significantly more favourable than commonly reported in the literature. This illustrates the loose correlation between geno- and phenotype in PKS.

  20. 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.

  1. Hemarthrosis due to a rare cause of hemorrhagic diathesis: Ehlers-Danlos syndrome.

    Science.gov (United States)

    Giordano, Paola; Del Vecchio, Giovanni Carlo; Scaraggi, Rosanna; Cardinale, Fabio; Moretti, Biagio; Lassandro, Giuseppe; De Mattia, Domenico

    2008-01-01

    The authors report a case of hemarthrosis complicated by severe anemia related to a congenital connective tissue disease: Ehlers-Danlos syndrome. A boy fell down and suffered tumefaction of both knees with bilateral rupture of the rotula tendon. He underwent surgical reinsertion of each tendon on the rotula. He later showed an unexpected ongoing hematic effusion, with severe anemia. He was screened for coagulation disorders with no results. On taking a more detailed history and investigating the patient's phenotypical features, the authors diagnosed Ehlers-Danlos syndrome, hypermobile variant. The hemarthrosis and anemia were thus concluded to be consequences of excessive tissue fragility due to a congenital connective tissue disease.

  2. 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.

  3. Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype

    DEFF Research Database (Denmark)

    Grønskov, Karen; Diness, Birgitte; Stahlhut, Michelle;

    2014-01-01

    to expand. Detection of the duplication by DNA sequencing was difficult due to preferential sequencing of the normal allele, demonstrating the superiority of fragment length analysis in mosaic cases. The clinical symptoms were mild to moderate developmental delay with only the hand dystonia to suggest...... Partington syndrome. This patient is the first male reported to be mosaic for the duplication, and his clinical features are subtle. This study shows that in males with a phenotype of mild Partington syndrome and in heterozygous females fragment length analysis should be preferred over DNA sequencing....

  4. 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.

  5. A cholestatic syndrome may be a surprising cause of medical error

    Directory of Open Access Journals (Sweden)

    M. Pătrășescu

    2015-04-01

    Full Text Available Autoimmune cholangitis defines a spectrum of cholestatic liver diseases that are characterized by inflammation of bile ducts and a reasonable response to immunosuppressive therapy. The two most common diseases associated with this term in the literature are: an overlap syndrome of primary biliary cirrhosis and autoimmune hepatitis and a form of hyper IgG4 syndrome (currently associated with autoimmune pancreatitis. Liver biopsy is mandatory for the diagnosis. There are, whatsoever, in clinical practice, many cases that do not meet current diagnostic criteria but that have a good response to corticosteroid treatment.

  6. Compound heterozygous PNPLA6 mutations cause Boucher-Neuhäuser syndrome with late-onset ataxia.

    Science.gov (United States)

    Deik, A; Johannes, B; Rucker, J C; Sánchez, E; Brodie, S E; Deegan, E; Landy, K; Kajiwara, Y; Scelsa, S; Saunders-Pullman, R; Paisán-Ruiz, C

    2014-12-01

    PNPLA6 mutations, known to be associated with the development of motor neuron phenotypes, have recently been identified in families with Boucher-Neuhäuser syndrome. Boucher-Neuhäuser is a rare autosomal recessive syndrome characterized by the co-occurrence of cerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy. Gait ataxia in Boucher-Neuhäuser usually manifests before early adulthood, although onset in the third or fourth decade has also been reported. However, given the recent identification of PNPLA6 mutations as the cause of this condition, the determining factors of age of symptom onset still need to be established. Here, we have identified a sporadic Boucher-Neuhäuser case with late-onset gait ataxia and relatively milder retinal changes due to compound heterozygous PNPLA6 mutations. Compound heterozygosity was confirmed by cloning and sequencing the patient's genomic DNA from coding exons 26-29. Furthermore, both mutations (one novel and one known) fell in the phospholipase esterase domain, where most pathogenic mutations seem to cluster. Taken together, we herein confirm PNPLA6 mutations as the leading cause of Boucher-Neuhäuser syndrome and suggest inquiring about a history of hypogonadism or visual changes in patients presenting with late-onset gait ataxia. We also advocate for neuroophthalmologic evaluation in suspected cases.

  7. LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.

    Science.gov (United States)

    Haji-Seyed-Javadi, Ramona; Jelodari-Mamaghani, Sahar; Paylakhi, Seyed Hassan; Yazdani, Shahin; Nilforushan, Naveed; Fan, Jian-Bing; Klotzle, Brandy; Mahmoudi, Mohammad Jafar; Ebrahimian, Mohammad Jafar; Chelich, Noori; Taghiabadi, Ehsan; Kamyab, Kambiz; Boileau, Catherine; Paisan-Ruiz, Coro; Ronaghi, Mostafa; Elahi, Elahe

    2012-08-01

    Latent transforming growth factor (TGF) beta-binding protein 2 (LTBP2) is an extracellular matrix (ECM) protein that associates with fibrillin-1 containing microfibrils. Various factors prompted considering LTBP2 in the etiology of isolated ectopia lentis and associated conditions such as Weill-Marchesani syndrome (WMS) and Marfan syndrome (MFS). LTBP2 was screened in 30 unrelated Iranian patients. Mutations were found only in one WMS proband and one MFS proband. Homozygous c.3529G>A (p.Val1177Met) was shown to cause autosomal recessive WMS or WM-like syndrome by several approaches, including homozygosity mapping. Light, fluorescent, and electron microscopy evidenced disruptions of the microfibrillar network in the ECM of the proband's skin. In conjunction with recent findings regarding other ECM proteins, the results presented strongly support the contention that anomalies in WMS patients are due to disruptions in the ECM. Heterozygous c.1642C >T (p.Arg548*) possibly contributed to MFS-related phenotypes, including ocular manifestations, mitral valve prolapse, and pectus excavatum, but was not cause of MFS.

  8. The frequency of a disease-causing point mutation in the gene coding for medium-chain acyl-CoA dehydrogenase in sudden infant death syndrome

    DEFF Research Database (Denmark)

    Banner, Jytte; Gregersen, N; Kølvraa, S

    1993-01-01

    syndrome is still a matter of controversy. The present study investigated 120 well-defined cases of sudden infant death syndrome in order to detect the frequency of the most common disease-causing point mutation in the gene coding for medium-chain acyl-CoA dehydrogenase (G985) compared with the frequency...

  9. Hepatic Rupture Caused by Hemolysis, Elevated Liver Enzyme, and Low Platelet Count Syndrome: A Case Report with Computed Tomographic and Conventional Angiographic Findings

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Cheong Bok; Ahn, Jae Hong; Choi, Soo Jung; Lee, Jong Hyeog; Park, Man Soo; Jung, Seung Mun; Ryu, Dae Sik [Dept. of Radiology, Asan Foundation, Gangneung Asan Hospital, University of Ulsan College of Medicine, Gangneung (Korea, Republic of)

    2013-03-15

    The authors recently obtained successful clinical outcome after embolization of the hepatic artery and right inferior phrenic artery in a pregnant patient with hemolysis, elevated liver enzyme, and low platelet count (HELLP) syndrome causing hepatic rupture. We report the computed tomographic and conventional angiographic findings in a case of HELLP syndrome, resulting in hepatic infarction and rupture with active bleeding.

  10. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.

    NARCIS (Netherlands)

    Dauwerse, J.G.; Dixon, J.; Seland, S.; Ruivenkamp, C.A.; Haeringen, A. van; Hoefsloot, L.H.; Peters, D.J.; Boers, A.C.; Daumer-Haas, C.; Maiwald, R.; Zweier, C.; Kerr, B.; Cobo, A.M.; Toral, J.F.; Hoogeboom, A.J.M.; Lohmann, D.R.; Hehr, U.; Dixon, M.J.; Breuning, M.H.; Wieczorek, D.

    2011-01-01

    We identified a deletion of a gene encoding a subunit of RNA polymerases I and III, POLR1D, in an individual with Treacher Collins syndrome (TCS). Subsequently, we detected 20 additional heterozygous mutations of POLR1D in 252 individuals with TCS. Furthermore, we discovered mutations in both allele

  11. Ramsay Hunt Syndrome : Clinical Characterization of Progressive Myoclonus Ataxia Caused by GOSR2 Mutation

    NARCIS (Netherlands)

    van Egmond, Martje E.; Verschuuren - Bemelmans, Cornelia; Nibbeling, Esther A.; Elting, Jan Willem J.; Sival, Deborah A.; Brouwer, Oebele F.; de Vries, Jeroen J.; Kremer, Hubertus P.; Sinke, Richard J.; Tijssen, Marina A.; de Koning, Tom J.

    2014-01-01

    BACKGROUND: Ramsay Hunt syndrome (progressive myoclonus ataxia) is a descriptive diagnosis characterized by myoclonus, ataxia, and infrequent seizures. Often the etiology cannot be determined. Recently, a mutation in the GOSR2 gene (c.430G>T, p.Gly144Trp) was reported in 6 patients with childhood-on

  12. 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.

  13. Rapid onset of severe twin-twin transfusion syndrome caused by placental venous thrombosis

    NARCIS (Netherlands)

    Nikkels, PGJ; van Gemert, MJC; Sollie-Szarynska, KM; Molendijk, H; Timmer, B; Machin, GA

    2002-01-01

    We report a case of rapid onset of severe twin-twin transfusion syndrome (TTTS) at 25 weeks gestation in a monochorionic twin pregnancy that was uneventful before that time. Thrombosis of a main venous branch draining several arteriovenous (AV) anastomoses to the donor changed the previous hemodynam

  14. Blue rubber bleb naevus syndrome: A rare cause of gastrointestinal bleeding in an African child

    Directory of Open Access Journals (Sweden)

    Walter C

    2010-01-01

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

  15. Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

    NARCIS (Netherlands)

    Van Houdt, Jeroen K. J.; Nowakowska, Beata Anna; Sousa, Sergio B.; van Schaik, Barbera D. C.; Seuntjens, Eve; Avonce, Nelson; Sifrim, Alejandro; Abdul-Rahman, Omar A.; van den Boogaard, Marie-Jose H.; Bottani, Armand; Castori, Marco; Cormier-Daire, Valerie; Deardorff, Matthew A.; Filges, Isabel; Fryer, Alan; Fryns, Jean-Pierre; Gana, Simone; Garavelli, Livia; Gillessen-Kaesbach, Gabriele; Hall, Bryan D.; Horn, Denise; Huylebroeck, Danny; Klapecki, Jakub; Krajewska-Walasek, Malgorzata; Kuechler, Alma; Lines, Matthew A.; Maas, Saskia; MacDermot, Kay D.; McKee, Shane; Magee, Alex; de Man, Stella A.; Moreau, Yves; Morice-Picard, Fanny; Obersztyn, Ewa; Pilch, Jacek; Rosser, Elizabeth; Shannon, Nora; Stolte-Dijkstra, Irene; Van Dijck, Patrick; Vilain, Catheline; Vogels, Annick; Wakeling, Emma; Wieczorek, Dagmar; Wilson, Louise; Zuffardi, Orsetta; van Kampen, Antoine H. C.; Devriendt, Koenraad; Hennekam, Raoul; Vermeesch, Joris Robert

    2012-01-01

    Nicolaides-Baraitser syndrome (NBS) is characterized by sparse hair, distinctive facial morphology, distal-limb anomalies and intellectual disability. We sequenced the exomes of ten individuals with NBS and identified heterozygous variants in SMARCA2 in eight of them. Extended molecular screening id

  16. 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

    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...

  17. 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...

  18. Mutations in the human TBX4 gene cause small patella syndrome.

    NARCIS (Netherlands)

    Bongers, M.H.F.; Duijf, P.H.; Beersum, S.E.C. van; Schoots, J.; Kampen, A. van; Burckhardt, A.; Hamel, B.C.J.; Losan, F.; Hoefsloot, L.H.; Yntema, H.G.; Knoers, N.V.A.M.; Bokhoven, J.H.L.M. van

    2004-01-01

    Small patella syndrome (SPS) is an autosomal-dominant skeletal dysplasia characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic rami. We identified an SPS critical region of 5.6 cM on chromosome 17q22

  19. Two Causes of Underachievement--The Scapegoat Phenomenon and the Peter Pan Syndrome. Part II.

    Science.gov (United States)

    Grau, Phyllis Nelson

    1986-01-01

    Two profiles of underachievement are described: the Peter Pan Syndrome, characterized by irresponsibility, anxiety, loneliness, sex role conflict, and narcissism, and the scapegoating phenomenon, in which children acquire negative self-images from victimization experiences. Prognoses and recommendations for each are offered. (Author/CL)

  20. The pathogenic mechanism of the diarrheal syndrome caused by Bacillus cereus

    NARCIS (Netherlands)

    Wijnands LM; Dufrenne JB; Leusden FM van; MGB

    2002-01-01

    As a contaminant of food commodities, Bacillus cereus may produce several enterotoxins that are responsible for the development of a diarrhaeal syndrome. Although four enterotoxins -haemolysin BL (HBL), non-haemolytic enterotoxin (NHE), enterotoxin-T, and cytotoxin-K- have been described as possibly

  1. Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

    NARCIS (Netherlands)

    Aligianis, IA; Johnson, CA; Gissen, P; Chen, DR; Hampshire, D; Hoffmann, K; Maina, EN; Morgan, NV; Tee, L; Morton, J; Ainsworth, [No Value; Horn, D; Rosser, E; Cole, TRP; Stolte-Dijkstra, [No Value; Fieggen, K; Clayton-Smith, J; Megarbane, A; Shield, JP; Newbury-Ecob, R; Dobyns, WB; Graham, JM; Kjaer, KW; Warburg, M; Bond, J; Trembath, RC; Harris, LW; Takai, Y; Mundlos, S; Tannahill, D; Woods, CG; Maher, ER

    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 of t

  2. Treatment of Guillain-Barré syndrome and causes and treatment of residual fatigue

    NARCIS (Netherlands)

    M.P.J. Garssen (Marcel)

    2005-01-01

    textabstractChapter 1 is the general introduction of this thesis, in which di.erent aspects of the Guillain-Barré syndrome (GBS) are described. GBS is an acute post-infectious polyneuropathy, in which the immune system plays an important role. Insight in pathogenesis, clinical and electrophysiologic

  3. DOES GROWTH-HORMONE TREATMENT OF PATIENTS WITH TURNERS SYNDROME CAUSE AN ABNORMAL BODY SHAPE

    NARCIS (Netherlands)

    GERVER, WJM; DRAYER, NM; VANES, A

    1992-01-01

    The effect of human growth hormone on the body shape of 51 patients with Turner's syndrome (aged 6-19 years) was evaluated. Biosynthetic growth hormone was given in a dose of 24 IU/m2 body surface/week for two years. Karyotype analysis on peripheral blood was performed. Patients older than 12 years

  4. Middle aortic syndrome as a cause of heart failure in children and its management.

    OpenAIRE

    S. Gupta; B. Goswami; Ghosh, D C; Sen Gupta, A N

    1981-01-01

    Two cases of middle aortic syndrome in children are described along with two other cases reported earlier. In childhood, this disease may present as incipient or overt cardiac failure. Surgical treatment should be undertaken based on an objective assessment of the severity of the stricture and after taking into account the future growth of the child.

  5. Risk factors of thrombosis in abdominal veins

    Institute of Scientific and Technical Information of China (English)

    Amit Kumar Durra; Ashok Chacko; Biju George; Joseph Anjilivelil Joseph; Sukesh Chandran Nair; Vikram Mathews

    2008-01-01

    AIM: To estimate the prevalence of inherited and acquired thrombophilic risk factors in patients with abdominal venous thrombosis and to compare the risk factor profiles between Budd-Chiari syndromes (BCS) and splanchnic vein thrombosis (SVT).METHODS: In this retrospective study, 36 patients with abdominal venous thrombosis were studied.The patients were divided into Budd-Chiari group (hepatic vein, IVC thrombosis) and splanchnic venous thrombosis group (portal, splenic, superior mesenteric veins) based on the veins involved. Hereditary and acquired thrombophilic risk factors were evaluated in all patients.RESULTS: Twenty patients had SVT, 14 had BCS,and 2 had mixed venous thrombosis. Ten patients (28%) had hereditary and 10 patients (28%) acquired thrombophilic risk factors. The acquired risk factors were significantly more common in the SVT group (SVT vs BCS:45% vs 7%,x2=5.7,P=0.02) while hereditary risk factors did not show significant differences between the two groups (SVT vs BCS: 25%vs 36%, x2=0.46,P=0.7). Multiple risk factors were present in one (7%) patient with BCS and in 3 patients (15%) with SVT. No risk factors were identified in 57% of patients with BCS and in 45% of patients with SVT.CONCLUSION: Hereditary and acquired risk factors play an important role in the etiopathogenesis of abdominal venous thrombosis. Acquired risk factors are significantly more common in SVT patients while hereditary factors are similar in both groups.

  6. Anterior Nutcracker syndrome as a rare cause of hematuria in an 8 year old boy: A case report

    Directory of Open Access Journals (Sweden)

    Prashant S Patil

    2016-09-01

    Full Text Available Nutcracker syndrome is caused by a compression of the left renal vein between the aorta and the superior mesenteric artery. It results in left renal venous hypertension, and the subsequent development of venous varicosities of the renal pelvis, ureter, and gonadal vein. We report a rare case in an 8-year-old boy who presented with a history of intermittent episodes of hematuria leading to anemia and left flank pain. Ultrasound examination of abdomen revealed bulky left kidney and features of subacute medical renal disease. Computed tomography of abdomen showed compressed left renal vein between aorta and superior mesenteric artery. Authors report the successful operative management of this rare syndrome in a pediatric patient.

  7. Further insight into the phenotype associated with a mutation in the ORC6 gene, causing Meier-Gorlin syndrome 3.

    Science.gov (United States)

    Shalev, Stavit Allon; Khayat, Morad; Etty, Daniel-Spiegl; Elpeleg, Orly

    2015-03-01

    Mutations in genes encoding the origin recognition complex subunits cause Meier-Gorlin syndrome. The disease manifests a triad of short stature, small ears, and small and/or absent patellae with variable expressivity. We report on the identification of a homozygous deleterious mutation in the ORC6 gene in previously described fetuses at the severe end of the Meier-Gorlin spectrum. The phenotype included severe intrauterine growth retardation, dislocation of knees, gracile bones, clubfeet, and small mandible and chest. To date, the clinical presentation of ORC6-associated Meier-Gorlin syndrome has been mild compared to other the phenotype associated with other loci. The present report expands the clinical phenotype associated with ORC6 mutations to include severely abnormal embryological development suggesting a possible genotype-phenotype correlation.

  8. A very rare cause of dyspnea with a unique presentation on a computed tomography scan of the chest: macrophage activation syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Brandao-Neto, Rodrigo Antonio [Universidade de Sao Paulo (USP), SP (Brazil). Hospital das Clinicas. Clinical Emergency Dept.; Santana, Alfredo Nicodemos Cruz; Danilovic, Debora Lucia Seguro; Mendonca, Berenice Bilharinho de [Universidade de Sao Paulo (USP), SP (Brazil). Faculdade de Medicina]. E-mail: alfredonicodemos@hotmail.com; Bernardi, Fabiola Del Carlo [Universidade de Sao Paulo (USP), SP (Brazil). Hospital das Clinicas. Dept. of Pathology; Barbas, Carmen Silvia Valente [Universidade de Sao Paulo (USP), SP (Brazil). Hospital das Clinicas. Dept. of Pulmonology

    2008-02-15

    Macrophage activation syndrome is a rare and potentially life-threatening disease. It occurs due to immune dysregulation manifested as excessive macrophage proliferation, typically causing hepatosplenomegaly, pancytopenia and hepatic dysfunction. Here, we report an unusual case of macrophage activation syndrome presenting as dyspnea, as well as (reported here for the first time) high resolution computed tomography findings of an excavated nodule, diffuse ground glass opacities and consolidations (mimicking severe pneumonia or alveolar hemorrhage). The patient was successfully treated with human immunoglobulin. We recommend that macrophage activation syndrome be considered in the differential diagnosis of respiratory failure. Rapid diagnosis and treatment are essential to achieving favorable outcomes in patients with this syndrome. (author)

  9. Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.

    Science.gov (United States)

    Cecchi, Alana; Ogawa, Naomi; Martinez, Hugo R; Carlson, Alicia; Fan, Yuxin; Penny, Daniel J; Guo, Dong-chuan; Eisenberg, Steven; Safi, Hazim; Estrera, Anthony; Lewis, Richard A; Meyers, Deborah; Milewicz, Dianna M

    2013-09-01

    Mutations in FBN1 cause a range of overlapping but distinct conditions including Marfan syndrome (MFS), Weill-Marchesani syndrome (WMS), familial thoracic aortic aneurysms/dissections (FTAAD), acromicric dysplasia (AD), and geleophysic dysplasia (GD). Two forms of acromelic dysplasia, AD and GD, characterized by short stature, brachydactyly, reduced joint mobility, and characteristic facies, result from heterozygous missense mutations occurring in exons 41 and 42 of FBN1; missense mutations in these exons have not been reported to cause MFS or other syndromes. Here we report on probands with MFS and WMS who have heterozygous FBN1 missense mutations in exons 41 and 42, respectively. The proband with WMS has ectopia lentis, short stature, thickened pinnae, tight skin, striae atrophicae, reduced extension of the elbows, contractures of the fingers and toes, and brachydactyly and has a missense mutation in exon 42 of FBN1 (c.5242T>C; p.C1748R). He also experienced a previously unreported complication of WMS, an acute thoracic aortic dissection. The second proband displays classic characteristics of MFS, including ectopia lentis, skeletal features, and aortic root dilatation, and has a missense mutation in exon 41 of FBN1 (c.5084G>A; p.C1695Y). These phenotypes provide evidence that missense mutations in exons 41 and 42 of FBN1 lead to MFS and WMS in addition to AD and GD and also suggest that all individuals with pathogenic FBN1 mutations in these exons should be assessed for thoracic aortic disease and ectopia lentis. Further studies are necessary to elucidate the factors responsible for the different phenotypes associated with missense mutations in these exons of FBN1.

  10. Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome

    OpenAIRE

    Cheah, Christine S.; Yu, Frank H.; Westenbroek, Ruth E.; Kalume, Franck K.; Oakley, John C; Potter, Gregory B.; Rubenstein, John L.; Catterall, William A.

    2012-01-01

    Heterozygous loss-of-function mutations in the brain sodium channel NaV1.1 cause Dravet syndrome (DS), a pharmacoresistant infantile-onset epilepsy syndrome with comorbidities of cognitive impairment and premature death. Previous studies using a mouse model of DS revealed reduced sodium currents and impaired excitability in GABAergic interneurons in the hippocampus, leading to the hypothesis that impaired excitability of GABAergic inhibitory neurons is the cause of epilepsy and premature deat...

  11. Ehlers-Danlos Syndrome Type VIII: A Rare Cause of Leg Ulcers in Young Patients

    Science.gov (United States)

    Lucas, Antoine; Piérard, Gérald E.; Hermanns-Lê, Trinh; De Paepe, Anne; Dupuy, Alain

    2013-01-01

    Ehlers-Danlos syndrome type VIII (EDS-VIII) is a very rare autosomal dominant disease characterized by early-onset periodontitis associated with features of Ehlers-Danlos syndrome. We report a 32-year-old man whose chronic leg ulcer led to the diagnosis of EDS-VIII. He had severe periodontitis with complete loss of permanent teeth and skin fragility with thin skin, atrophic scars, and brownish atrophic pretibial plaques. Leg ulcer is not a prominent feature of EDS-VIII. We suggest adding EDS-VIII to the list of rare diseases accounting for chronic leg ulcers, if this case report prompts others to report leg ulcers associated with EDS-VIII. PMID:24198978

  12. Gorlin-Goltz Syndrome: An Uncommon Cause of Facial Pain and Asymmetry.

    Science.gov (United States)

    Pickrell, Brent B; Nguyen, Harrison P; Buchanan, Edward P

    2015-10-01

    Gorlin-Goltz syndrome is an underdiagnosed autosomal dominant disorder with variable expressivity that is characterized by an increased predisposition to tumorigenesis of multiple types. The major clinical features include multiple basal cell carcinomas (BCCs) appearing in early childhood, palmar and plantar pits, odontogenic keratocysts of the oral cavity, skeletal defects, craniofacial dysmorphism, and ectopic intracranial calcification. The authors present the clinical course of a 12-year-old girl presenting with facial asymmetry and pain because of previously undiagnosed Gorlin-Goltz syndrome. Early diagnosis and attentive management by a multidisciplinary team are paramount to improving outcomes in patients with this disorder, and this report serves as a paradigm for maintaining a high clinical suspicion, which must be accompanied by an appropriate radiologic workup.

  13. Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.

    Science.gov (United States)

    Tassabehji, M; Newton, V E; Read, A P

    1994-11-01

    Waardenburg syndrome type 2 (WS2) is a dominantly inherited syndrome of hearing loss and pigmentary disturbances. We recently mapped a WS2 gene to chromosome 3p12.3-p14.1 and proposed as a candidate gene MITF, the human homologue of the mouse microphthalmia (mi) gene. This encodes a putative basic-helix-loop-helix-leucine zipper transcription factor expressed in adult skin and in embryonic retina, otic vesicle and hair follicles. Mice carrying mi mutations show reduced pigmentation of the eyes and coat, and with some alleles, microphthalmia, hearing loss, osteopetrosis and mast cell defects. Here we show that affected individuals in two WS2 families have mutations affecting splice sites in the MITF gene.

  14. Pallister-Killian syndrome caused by mosaicism for a supernumerary ring chromosome 12p.

    Science.gov (United States)

    Yeung, Alison; Francis, David; Giouzeppos, Olivia; Amor, David J

    2009-03-01

    Pallister-Killian syndrome (PKS) is a rare but distinctive chromosomal syndrome distinguished by severe intellectual impairment, characteristic facial features, and variable structural anomalies. The characteristic cytogenetic abnormality in PKS is a supernumerary isochromosome 12p that confers mosaic tetrasomy. We describe a female child with PKS in whom tetrasomy 12p resulted from a supernumerary ring chromosome containing two copies of chromosome 12cen --> p13, a novel cytogenetic finding. The ring chromosome exhibited tissue-limited mosaicism, being absent in blood but detected in 38% of buccal mucosa cells and 41% of skin fibroblasts. Our patient demonstrated the typical dysmorphic characteristics of PKS, but her development was relatively advanced in comparison to children with isochromosome PKS. Her milder developmental phenotype may be attributable to differences in the mosaic distribution or the genomic content of the ring chromosome compared to mosaic isochromosome 12p.

  15. Sympathetic nervous activation in obesity and the metabolic syndrome--causes, consequences and therapeutic implications.

    Science.gov (United States)

    Lambert, Gavin W; Straznicky, Nora E; Lambert, Elisabeth A; Dixon, John B; Schlaich, Markus P

    2010-05-01

    The world wide prevalence of obesity and the metabolic syndrome is escalating. Contrary to earlier experimental evidence, human obesity is characterised by sympathetic nervous activation, with the outflows to both the kidney and skeletal muscle being activated. While the mechanisms responsible for initiating the sympathetic activation remain to be unequivocally elucidated, hyperinsulinemia, obstructive sleep apnoea, increased circulating adipokines, stress and beta adrenergic receptor polymorphisms are implicated. The pattern of sympathetic activation may be the pathophysiological mechanism underpinning much obesity-related illnesses with the consequences including, amongst others, the development of hypertension, insulin resistance, diastolic dysfunction and renal impairment. While diet and exercise are the first line therapy for the treatment of obesity and the metabolic syndrome, pharmacological interventions targeting the sympathetic nervous system, either directly or indirectly are also likely to be of benefit. Importantly, the benefit may not necessarily be weight related but may be associated with a reduction in end organ damage.

  16. Neuroleptic Malignant Syndrome: A Rare Cause of Fever 1 in the Emergency Department

    Directory of Open Access Journals (Sweden)

    Hayriye Gonullu

    2013-10-01

    Full Text Available    Neuroleptic malignant syndrome (NMS is a rare and life threatening complication of antipsychotic therapy. It presents with fever, altered mental status, autonomic instability and muscle rigidity. Differential diagnosis consist many conditions. NMS is a diagnosis of exclusion. NMS is in the differential diagnosis of patients presenting with fever to emergency department, where careful history and previous medication use is essential for diagnosing and treating this phenomenon.

  17. Treatment of Guillain-Barré syndrome and causes and treatment of residual fatigue

    OpenAIRE

    Garssen, Marcel

    2005-01-01

    textabstractChapter 1 is the general introduction of this thesis, in which di.erent aspects of the Guillain-Barré syndrome (GBS) are described. GBS is an acute post-infectious polyneuropathy, in which the immune system plays an important role. Insight in pathogenesis, clinical and electrophysiological features, functional outcome, and residual complaints is increasing. To date, fatigue is considered one of the most disabling residual symptoms, seriously a.ecting quality of life. The considera...

  18. Molasses as a possible cause of an ''endocrine disruptive syndrome'' in calves

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    M.S. Masgoret

    2009-09-01

    Full Text Available During the mid 1990s a potentially serious, chronic syndrome was reported in well-managed beef and dairy herds from unrelated parts of South Africa. Farmers reported that it manifested as various combinations of decreased production, decreased weaning masses, apparent immune breakdown in previously immunocompetent animals, increased reproductive disorders, various mineral imbalances in non-deficient areas and goitre, noticeable as enlarged thyroid glands. The farmers associated this syndrome with certain batches of sugar cane molasses and molasses-based products. The syndrome was reminiscent of an ''endocrine disruptive syndrome''. The objective of this study was to evaluate the suspected endocrine disruptive effect of molasses included in cattle feed. Using existing in vitro assays, four batches of molasses syrup were screened for possible inclusion in a calf feeding trial. Two batches were selected for the trial. Thirty-two, 4- to 6-week-old, weaned Holstein bull calves were included in the single phase, three treatment, parallel design experiment. In two of the groups of calves, two different batches of molasses were included in their rations respectively. The control group was fed a ration to which no molasses was added, but which was balanced for energy and mineral content. The mass gain of the calves was recorded over the 6-month study period. The calves were clinically examined every week and clinical pathology parameters, immune responses and endocrine effects were regularly evaluated. Even though endocrine disrupting effects were detected with the in vitro screening assays, these could not be reproduced in the calves in the experiment. The two batches of molasses utilized in the calf feeding trial did not induce major differences in any of the parameters measured, with the exception of a lower mass gain in one of the molasses-fed groups (Group 1, which tended towards significance. The results of the study indicate that the two batches

  19. Singleton Merten Syndrome: A Rare Cause of Early Onset Aortic Stenosis

    Science.gov (United States)

    Mungee, Sudhir

    2017-01-01

    Singleton Merten syndrome (SMS) is a rare autosomal dominant genetic disorder with variable expression. Its characteristic features include abnormal aortic calcification, abnormal ossification of extremities, and dental anomalies. We present a young man with dyspnea who was noted to have aortic stenosis in the background of glaucoma, psoriasis, dental anomalies, hand and foot deformities, Achilles tendinitis, osteopenia, and nephrolithiasis. The conglomeration of features led to the diagnosis of SMS. His mother had a very similar phenotype. PMID:28321341

  20. Singleton Merten Syndrome: A Rare Cause of Early Onset Aortic Stenosis

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    Harshavardhan Ghadiam

    2017-01-01

    Full Text Available Singleton Merten syndrome (SMS is a rare autosomal dominant genetic disorder with variable expression. Its characteristic features include abnormal aortic calcification, abnormal ossification of extremities, and dental anomalies. We present a young man with dyspnea who was noted to have aortic stenosis in the background of glaucoma, psoriasis, dental anomalies, hand and foot deformities, Achilles tendinitis, osteopenia, and nephrolithiasis. The conglomeration of features led to the diagnosis of SMS. His mother had a very similar phenotype.

  1. A rare cause of cystic lung disease - Birt-Hogg-Dubé syndrome.

    Science.gov (United States)

    Minnis, P; Riddell, P; Keane, M P

    2016-01-01

    Birt-Hogg-Dubé syndrome, initially described in 1977, is an autosomal dominant inherited condition characterised by basal pulmonary cysts often resulting in pneumothorax, renal tumours and cutaneous involvement. Lung cysts have been described in up to 90% of patients with a corresponding risk of pneumothorax of 50 times greater than the normal population. We describe here a case of Birt-Hogg-Dubé diagnosed in the 9th decade of life and discuss the radiological findings and clinical implications.

  2. Marfan Syndrome

    Science.gov (United States)

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

  3. Williams syndrome

    Science.gov (United States)

    Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. Parents may not have any family history of the condition. However, people with Williams syndrome have a 50% chance of passing the ...

  4. DE ANQUIN SYNDROME-RARE CAUSE OF LOW BACK PAIN: A CASE REPORT WITH REVIEW OF LITERATURE

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    Spasov Marko

    2016-07-01

    Full Text Available Introduction: Low back pain is common medical disorder that can be caused by different etiologies, some of them being very rare. During the past decades, much of the etiology and pato-mechanics of low back pain has been clarified. However, defining precise cause of low back pain in a small subset of patients is still challenging. Case presentation: We are presenting a case of long lasting low back pain caused by impingement of the enlarged spinous process of the fifth lumbar spine into the spina bifida of the first sacral segment, so called De Anquin syndrome. We delineated the precise morphology of the anomaly using CT scans, and since the patient was symptomatic, the resection of the enlarged spinous process was undertaken. During the follow up period, the patient remained completely symptom free. Discussion and Literature review: We undertook literature review and small number of studies describing De Anquin syndrome were found. The most remarkable finding of the case presented is the immediate and complete release of pain. Conclusion: We do recommend seeking for the exact etiology in the patients with long lasting low back pain.

  5. Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions.

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    Stuart A Cain

    Full Text Available The extracellular glycoprotein fibrillin-1 forms microfibrils that act as the template for elastic fibers. Most mutations in fibrillin-1 cause Marfan syndrome with severe cardiovascular and ocular symptoms, and tall stature. This is in contrast to mutations within a heparin-binding TB domain (TB5, which is downstream of the arg-gly-asp cell adhesion domain, which can cause Weill-Marchesani syndrome (WMS or Acromicric (AD and Geleophysic Dysplasias (GD. WMS is characterized by short limbs, joint stiffness and ocular defects, whilst fibrillin-1 AD and GD have severe short stature, joint defects and thickened skin. We previously showed that TB5 binds heparin. Here, we show that the corresponding region of fibrillin-2 binds heparin very poorly, highlighting a novel functional difference between the two isoforms. This finding enabled us to map heparin/heparan sulfate binding to two sites on fibrillin-1 TB5 using a mutagenesis approach. Once these sites were mapped, we were able to investigate whether disease-causing mutations in this domain disrupt binding to HS. We show that a WMS deletion mutant, and five AD and GD point mutants all have disrupted heparin binding to TB5. These data provide insights into the biology of fibrillins and the pathologies of WMS, AD and GD.

  6. Podocin inactivation in mature kidneys causes focal segmental glomerulosclerosis and nephrotic syndrome.

    Science.gov (United States)

    Mollet, Géraldine; Ratelade, Julien; Boyer, Olivia; Muda, Andrea Onetti; Morisset, Ludivine; Lavin, Tiphaine Aguirre; Kitzis, David; Dallman, Margaret J; Bugeon, Laurence; Hubner, Norbert; Gubler, Marie-Claire; Antignac, Corinne; Esquivel, Ernie L

    2009-10-01

    Podocin is a critical component of the glomerular slit diaphragm, and genetic mutations lead to both familial and sporadic forms of steroid-resistant nephrotic syndrome. In mice, constitutive absence of podocin leads to rapidly progressive renal disease characterized by mesangiolysis and/or mesangial sclerosis and nephrotic syndrome. Using established Cre-loxP technology, we inactivated podocin in the adult mouse kidney in a podocyte-specific manner. Progressive loss of podocin in the glomerulus recapitulated albuminuria, hypercholesterolemia, hypertension, and renal failure seen in nephrotic syndrome in humans. Lesions of FSGS appeared after 4 wk, with subsequent development of diffuse glomerulosclerosis and tubulointerstitial damage. Interestingly, conditional inactivation of podocin at birth resulted in a gradient of glomerular lesions, including mesangial proliferation, demonstrating a developmental stage dependence of renal histologic patterns of injury. The development of significant albuminuria in this model occurred only after early and focal foot process effacement had progressed to diffuse involvement, with complete absence of podocin immunolabeling at the slit diaphragm. Finally, we identified novel potential mediators and perturbed molecular pathways, including cellular proliferation, in the course of progression of renal disease leading to glomerulosclerosis, using global gene expression profiling.

  7. Podocin Inactivation in Mature Kidneys Causes Focal Segmental Glomerulosclerosis and Nephrotic Syndrome

    Science.gov (United States)

    Mollet, Géraldine; Ratelade, Julien; Boyer, Olivia; Muda, Andrea Onetti; Morisset, Ludivine; Lavin, Tiphaine Aguirre; Kitzis, David; Dallman, Margaret J.; Bugeon, Laurence; Hubner, Norbert; Gubler, Marie-Claire; Esquivel, Ernie L.

    2009-01-01

    Podocin is a critical component of the glomerular slit diaphragm, and genetic mutations lead to both familial and sporadic forms of steroid-resistant nephrotic syndrome. In mice, constitutive absence of podocin leads to rapidly progressive renal disease characterized by mesangiolysis and/or mesangial sclerosis and nephrotic syndrome. Using established Cre-loxP technology, we inactivated podocin in the adult mouse kidney in a podocyte-specific manner. Progressive loss of podocin in the glomerulus recapitulated albuminuria, hypercholesterolemia, hypertension, and renal failure seen in nephrotic syndrome in humans. Lesions of FSGS appeared after 4 wk, with subsequent development of diffuse glomerulosclerosis and tubulointerstitial damage. Interestingly, conditional inactivation of podocin at birth resulted in a gradient of glomerular lesions, including mesangial proliferation, demonstrating a developmental stage dependence of renal histologic patterns of injury. The development of significant albuminuria in this model occurred only after early and focal foot process effacement had progressed to diffuse involvement, with complete absence of podocin immunolabeling at the slit diaphragm. Finally, we identified novel potential mediators and perturbed molecular pathways, including cellular proliferation, in the course of progression of renal disease leading to glomerulosclerosis, using global gene expression profiling. PMID:19713307

  8. Endoscopically assisted resection of a scapular osteochondroma causing snapping scapula syndrome

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    Futani Hiroyuki

    2007-03-01

    Full Text Available Abstract Background Osteochondroma is the most common benign bone tumor in the scapula. This condition might lead to snapping scapula syndrome, which is characterized by painful, audible, and/or palpable abnormal scapulothoracic motion. In the present case, this syndrome was successfully treated by use of endoscopically assisted resection of the osteochondroma. Case presentation A 41-year-old man had a tolerable pain in his scapular region over a 10 years' period. The pain developed gradually with shoulder motion, in particular with golf swing since he was aiming a professional golf player career. On physical examination, "clunking" was noted once from 90 degrees of abduction to 180 degrees of shoulder motion. A trans-scapular roentgenogram and computed tomography images revealed an osteochondroma located at the anterior and inferior aspect of the scapula. Removal of the tumor was performed by the use of endoscopically assisted resection. One portal was made at the lateral border of the scapula to introduce a 2.7-mm-diameter, 30 degrees Hopkins telescope. The tumor was resected in a piece-by-piece manner by the use of graspers through the same portal. Immediately after the operation pain relief was obtained, and the "clunking" disappeared. CT images showed complete tumor resection. The patient could start playing golf one week after the surgery. Conclusion Endoscopically assisted resection of osteochondroma of the scapula provides a feasible technique to treat snapping scapula syndrome and obtain early functional recovery with a short hospital stay and cosmetic advantage.

  9. Meier-Gorlin syndrome mutations disrupt an Orc1 CDK inhibitory domain and cause centrosome reduplication.

    Science.gov (United States)

    Hossain, Manzar; Stillman, Bruce

    2012-08-15

    Like DNA replication, centrosomes are licensed to duplicate once per cell division cycle to ensure genetic stability. In addition to regulating DNA replication, the Orc1 subunit of the human origin recognition complex controls centriole and centrosome copy number. Here we report that Orc1 harbors a PACT centrosome-targeting domain and a separate domain that differentially inhibits the protein kinase activities of Cyclin E-CDK2 and Cyclin A-CDK2. A cyclin-binding motif (Cy motif) is required for Orc1 to bind Cyclin A and inhibit Cyclin A-CDK2 kinase activity but has no effect on Cyclin E-CDK2 kinase activity. In contrast, Orc1 inhibition of Cyclin E-CDK2 kinase activity occurs by a different mechanism that is affected by Orc1 mutations identified in Meier-Gorlin syndrome patients. The cyclin/CDK2 kinase inhibitory domain of Orc1, when tethered to the PACT domain, localizes to centrosomes and blocks centrosome reduplication. Meier-Gorlin syndrome mutations that disrupt Cyclin E-CDK2 kinase inhibition also allow centrosome reduplication. Thus, Orc1 contains distinct domains that control centrosome copy number and DNA replication. We suggest that the Orc1 mutations present in some Meier-Gorlin syndrome patients contribute to the pronounced microcephaly and dwarfism observed in these individuals by altering centrosome duplication in addition to DNA replication defects.

  10. Haemolytic uraemic syndrome and accumulation of haemoglobin-haptoglobin complexes in plasma in serum sickness caused by penicillin drugs.

    Science.gov (United States)

    Brandslund, I; Petersen, P H; Strunge, P; Hole, P; Worth, V

    1980-01-01

    2 patients treated with penicillin and ampicillin, respectively, suffered from haemorrhagic diathesis, haemolysis, cerebral symptoms and renal insufficiency, resembling a haemolytic-uraemic syndrome. Their plasma was red due to the presence during several days of haemoglobin-haptoglobin complexes, the P-haemoglobin being 2.8 and 1.6 g/l, respectively. Coagulation tests showed an unusual pattern with prolonged activated partial thromboplastin times, an extremely long thrombin time and very high levels of fibrinogen degradation products. Repeated transfusion had no effect. The patients were considered to have developed a drug-induced serum sickness associated with insufficient function of the reticuloendothelial system, and secondary to this an accumulation of haemoglobin-haptoglobin complexes in plasma. When the penicillin drugs were discontinued, all measured variables rapidly normalised and the patients recovered completely. Thus, the haemolyticuraemic syndrome seemed to be caused by the serum sickness, possibly via circulating or cell-associated immune complexes. The possibility of a type III allergic reaction should be considered in patients with haemolytic-uraemic-like syndromes.

  11. Causes of death in patients ≥75 years of age with non-ST-segment elevation acute coronary syndrome.

    Science.gov (United States)

    Morici, Nuccia; Savonitto, Stefano; Murena, Ernesto; Antonicelli, Roberto; Piovaccari, Giancarlo; Tucci, Daniele; Tamburino, Corrado; Fontanelli, Alessandro; Bolognese, Leonardo; Menozzi, Mila; Cavallini, Claudio; Petronio, Anna Sonia; Ambrosio, Giuseppe; Piscione, Federico; Steffenino, Giuseppe; De Servi, Stefano

    2013-07-01

    The causes of death within 1 year of hospital admission in patients with non-ST-segment elevation acute coronary syndromes are ill defined, particularly in patients aged ≥75 years. From January 2008 through May 2010, we enrolled 645 patients aged ≥75 years with non-ST-segment elevation acute coronary syndromes: 313 in a randomized trial comparing an early aggressive versus an initially conservative approach, and 332, excluded from the trial for specific reasons, in a parallel registry. Each death occurring during 1 year of follow-up was adjudicated by an independent committee. The mean age was 82 years in both study cohorts, and 53% were men. By the end of the follow-up period (median 369 days, interquartile range 345 to 391), 120 patients (18.6%) had died. The mortality was significantly greater in the registry (23.8% vs 13.1%, p = 0.001). The deaths were classified as cardiac in 94% of the cases during the index admission and 68% of the cases during the follow-up period. Eighty-six percent of the cardiac deaths were of ischemic origin. In a multivariate logistic regression model that included the variables present on admission in the whole study population, the ejection fraction (hazard ratio 0.95, 95% confidence interval 0.94 to 0.97; p segment elevation acute coronary syndromes, most deaths in patients aged ≥75 years have a cardiac origin, mostly owing to myocardial ischemia.

  12. The mitochondrial DNA 10197 G > A mutation causes MELAS/Leigh overlap syndrome presenting with acute auditory agnosia.

    Science.gov (United States)

    Leng, Yinglin; Liu, Yuhe; Fang, Xiaojing; Li, Yao; Yu, Lei; Yuan, Yun; Wang, Zhaoxia

    2015-04-01

    Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes/Leigh (MELAS/LS) overlap syndrome is a mitochondrial disorder subtype with clinical and magnetic resonance imaging (MRI) features that are characteristic of both MELAS and Leigh syndrome (LS). Here, we report an MELAS/LS case presenting with cortical deafness and seizures. Cranial MRI revealed multiple lesions involving bilateral temporal lobes, the basal ganglia and the brainstem, which conformed to neuroimaging features of both MELAS and LS. Whole mitochondrial DNA (mtDNA) sequencing and PCR-RFLP revealed a de novo heteroplasmic m.10197 G > A mutation in the NADH dehydrogenase subunit 3 gene (ND3), which was predicted to cause an alanine to threonine substitution at amino acid 47. Although the mtDNA m.10197 G > A mutation has been reported in association with LS, Leber hereditary optic neuropathy and dystonia, it has never been linked with MELAS/LS overlap syndrome. Our patient therefore expands the phenotypic spectrum of the mtDNA m.10197 G > A mutation.

  13. Excess functional copy of allele at chromosomal region 11p15 may cause Wiedemann-Beckwith (EMG) syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Kubota, T.; Saitoh, S.; Jinno, Y.; Niikawa, N.; Matsumoto, T. [Nagasaki Univ. School of Medicine (Japan); Narahara, K. [Okayama Univ. School of Medicine, Okayama (Japan); Fukushima, Y. [Saitama Children`s Hospital, Iwatsuki (Japan)

    1994-02-15

    Wiedemann-Beckwith syndrome (WBS) is a genetic disorder with overgrowth and predisposition to Wilms` tumor. The putative locus of the gene responsible for this syndrome is assigned to chromosome region 11p15.5, and genomic imprinting in this region has been proposed: the paternally derived gene(s) at 11p15.5 is selectively expressed, while the maternally transmitted gene(s) is inactive. The authors examined 18 patients for the parental origin of their 11p15 regions. DNA polymorphism analyses using 6 loci on chromosome 11 showed that 2 patients with duplications of 11p15 regions from their respective fathers and one from the mother, indicating the transmission of an excessive paternal gene at 11p15 to each patient. The result, together with the previous findings in karyotypically normal or abnormal patients and in overgrowth mouse experiments, are consistent with imprinting hypothesis that overexpression of paternally derived gene(s) at 11p15.5, probably the human insulin-like growth factor II (IFG-II) gene, may cause the phenotype. Total constitutional uniparental paternal disomy (UPD) or segmental UPD for the 6 loci examined of chromosome 11 was not observed in our 12 sporadic patients. In order to explain completely the inheritance of this syndrome in patients with various chromosomal constitutions, the authors propose an alternative imprinting mechanism involving the other locus that may be paternally imprinted and may suppress the expression of this gene. 28 refs., 3 figs., 1 tab.

  14. Deletion at chromosome 16p13. 3 as a cause of Rubinstein-Taybi syndrome: Clinical aspects

    Energy Technology Data Exchange (ETDEWEB)

    Hennekam, R.C.M.; Tilanus, M.; Boogaard, M.J.H. van den (State Univ., Utrecht (Netherlands)); Hamel, B.C.J.; Voshart-van Heeren, H.; Mariman, E.C.M.; Beersum, S.E.C. van (University Hospital, Nijmegen (Netherlands)); Breuning, M.H. (Clinical Genetics Center, Rotterdam (Netherlands))

    1993-02-01

    In the accompanying paper, a chromosomal localization of the Rubinstein-Taybi syndrome by cytogenetic investigations with fluorescence in situ hybridization techniques at chromosome 16p13.3 is described. The authors investigated 19 of these patients and their parents (a) to ascertain the parental origin of the chromosome with the deletion in families where such a deletion was detected, (b) to disclose whether uniparental disomy plays a role in etiology, and (c) to compare clinical features in patients with a deletion to those in individuals in whom deletions were not detectable. Molecular studies showed a copy of chromosome 16 from each parent in all 19 patients. Uniparental disomy was also excluded for five other chromosome arms known to be imprinted in mice. None of the probes used for determining the origin of the deleted chromosome proved to be informative. The clinical features were essentially the same in patients with and without visible deletion, with a possible exception for the incidence of microcephaly, angulation of thumbs and halluces, and partial duplication of the halluces. A small deletion at 16p13.3 may be found in some patients with Rubinstein-Taybi syndrome. Cytogenetically undetectable deletions, point mutations, mosaicism, heterogeneity, or phenocopy by a nongenetic cause are the most probable explanations for the absence of cytogenetic or molecular abnormalities in other patients with Rubinstein-Taybi syndrome. 26 refs., 3 tabs., 2 figs.

  15. Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.

    Science.gov (United States)

    Halbritter, Jan; Bizet, Albane A; Schmidts, Miriam; Porath, Jonathan D; Braun, Daniela A; Gee, Heon Yung; McInerney-Leo, Aideen M; Krug, Pauline; Filhol, Emilie; Davis, Erica E; Airik, Rannar; Czarnecki, Peter G; Lehman, Anna M; Trnka, Peter; Nitschké, Patrick; Bole-Feysot, Christine; Schueler, Markus; Knebelmann, Bertrand; Burtey, Stéphane; Szabó, Attila J; Tory, Kálmán; Leo, Paul J; Gardiner, Brooke; McKenzie, Fiona A; Zankl, Andreas; Brown, Matthew A; Hartley, Jane L; Maher, Eamonn R; Li, Chunmei; Leroux, Michel R; Scambler, Peter J; Zhan, Shing H; Jones, Steven J; Kayserili, Hülya; Tuysuz, Beyhan; Moorani, Khemchand N; Constantinescu, Alexandru; Krantz, Ian D; Kaplan, Bernard S; Shah, Jagesh V; Hurd, Toby W; Doherty, Dan; Katsanis, Nicholas; Duncan, Emma L; Otto, Edgar A; Beales, Philip L; Mitchison, Hannah M; Saunier, Sophie; Hildebrandt, Friedhelm

    2013-11-01

    Intraflagellar transport (IFT) depends on two evolutionarily conserved modules, subcomplexes A (IFT-A) and B (IFT-B), to drive ciliary assembly and maintenance. All six IFT-A components and their motor protein, DYNC2H1, have been linked to human skeletal ciliopathies, including asphyxiating thoracic dystrophy (ATD; also known as Jeune syndrome), Sensenbrenner syndrome, and Mainzer-Saldino syndrome (MZSDS). Conversely, the 14 subunits in the IFT-B module, with the exception of IFT80, have unknown roles in human disease. To identify additional IFT-B components defective in ciliopathies, we independently performed different mutation analyses: candidate-based sequencing of all IFT-B-encoding genes in 1,467 individuals with a nephronophthisis-related ciliopathy or whole-exome resequencing in 63 individuals with ATD. We thereby detected biallelic mutations in the IFT-B-encoding gene IFT172 in 12 families. All affected individuals displayed abnormalities of the thorax and/or long bones, as well as renal, hepatic, or retinal involvement, consistent with the diagnosis of ATD or MZSDS. Additionally, cerebellar aplasia or hypoplasia characteristic of Joubert syndrome was present in 2 out of 12 families. Fibroblasts from affected individuals showed disturbed ciliary composition, suggesting alteration of ciliary transport and signaling. Knockdown of ift172 in zebrafish recapitulated the human phenotype and demonstrated a genetic interaction between ift172 and ift80. In summary, we have identified defects in IFT172 as a cause of complex ATD and MZSDS. Our findings link the group of skeletal ciliopathies to an additional IFT-B component, IFT172, similar to what has been shown for IFT-A.

  16. Minimal Change Nephrotic Syndrome Which Was Most Likely Caused by Chronic Sinusitis.

    Science.gov (United States)

    Iwatani, Hirotsugu; Mori, Daisuke; Yamamoto, Satoko; Nakano, Chikako; Yamamoto, Ryohei; Masumura, Chisako; Shikina, Takashi; Imai, Takao; Inohara, Hidenori; Rakugi, Hiromi; Isaka, Yoshitaka

    2015-01-01

    A 33-year-old Japanese man was admitted with severe edema, and a renal biopsy confirmed minimal change nephrotic syndrome (MCNS). CT revealed his severe chronic sinusitis, and he first received antimicrobial therapy, which resulted in decreased proteinuria. The surgical operation for sinusitis resulted in the complete disappearance of proteinuria without corticosteroid or immunosuppressant therapy within one week. MCNS may be triggered by infection, but there are no previously reported cases of MCNS that is completely remitted by infection control alone. Therefore, we herein report the first case of MCNS that attained complete remission following therapy for chronic sinusitis alone, which suggests a strong etiology of chronic sinusitis for MCNS.

  17. Skin lesions simulating blue toe syndrome caused by prolonged contact with a millipede

    Directory of Open Access Journals (Sweden)

    Augusto Scardazan Heeren Neto

    2014-04-01

    Full Text Available Venomous animals are those that, by means of a hunting and defense mechanism, are able to inject their prey with a toxic substance produced in their bodies, directly from specialized glands (e.g., tooth, sting, spur through which the poison passes. Millipedes are poisonous animals; they can be harmful to humans, and their effects usually manifest as erythematous, purpuric, and cyanotic lesions; local pain; and paresthesia. Here, we report a case of skin contact with a millipede for 6h resulting in skin lesions similar to blue toe syndrome.

  18. Hypereosinophilic syndrome as a cause of fatal thrombosis: two case reports with histological study.

    Science.gov (United States)

    Fujita, Kumi; Ishimaru, Hiroyasu; Hatta, Kazuhiro; Kobashi, Yoichiro

    2015-08-01

    Herein we present two cases of hypereosinophilic syndrome with a unique clinical presentation. One patient showed severe systemic thrombosis with splenic rupture and the other patient showed finger gangrene with various systemic symptoms. Both patients were examined histologically, and several characteristics were noted. First, fresh or organized thrombosis with marked eosinophilic infiltration was observed in the cavity and walls of the thrombosed vessels. Second, many eosinophils showed degranulation and were positive for eosinophilic cationic protein on immunohistological examination. Third, the structures of thrombosed vessels were well preserved, which is not observed in systemic vasculitis. These patients exhibited no neoplastic features and were treated with prednisolone with excellent therapeutic results.

  19. Life Threatening, Allopurinol-related Dress Syndrome as a Rare Cause of Fever of Unknown Origin.

    Science.gov (United States)

    Civardi, Giuseppe; Zanlari, Luca; Bassi, Emanuele; Zangrandi, Adriano; Maria Cesinaro, Anna; Nosseir, Sofia; De Maria, Nicola

    2015-01-01

    Drug reaction eosinophilia with systemic symptoms (DRESS) syndrome is a potentially life threatening condition secondary to the usage of a wide type of drugs. A 38-year-old woman under allopurinol therapy for hyperuricemia was admitted in our department with fever and a diffuse cutaneous erythematous eruption. A few days after admission she developed rapidly progressive signs of acute liver and kidney failure. Subsequently, her clinical conditions shortly improved. The histologic findings obtained from skin and liver biopsies were consistent with a toxic drug reaction. The patient completely recovered and has been healthy for five years.

  20. Life-Threatening Obstructive Sleep Apnea Caused by Adenoid Hypertrophy in an Infant with Noonan Syndrome

    Directory of Open Access Journals (Sweden)

    Sonia Khirani

    2012-01-01

    Full Text Available Adenoidectomy is a commonly performed surgery in children, even though its effectiveness is still under investigation. However, in children with risk factors such as age under 3 years old, associated comorbidities, or severe obstructive sleep apneas, a high postoperative respiratory morbidity is possible. We report the case of a 15-month-old boy with Noonan syndrome and a complex clinical history, who presented with a life-threatening obstructive sleep apnea due to hypertrophy of the adenoids which resolved completely after adenoidectomy.

  1. Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F.

    Science.gov (United States)

    Perreault-Micale, Cynthia; Frieden, Alexander; Kennedy, Caleb J; Neitzel, Dana; Sullivan, Jessica; Faulkner, Nicole; Hallam, Stephanie; Greger, Valerie

    2014-11-01

    Loss of function variants in the PCDH15 gene can cause Usher syndrome type 1F, an autosomal recessive disease associated with profound congenital hearing loss, vestibular dysfunction, and retinitis pigmentosa. The Ashkenazi Jewish population has an increased incidence of Usher syndrome type 1F (founder variant p.Arg245X accounts for 75% of alleles), yet the variant spectrum in a panethnic population remains undetermined. We sequenced the coding region and intron-exon borders of PCDH15 using next-generation DNA sequencing technology in approximately 14,000 patients from fertility clinics. More than 600 unique PCDH15 variants (single nucleotide changes and small indels) were identified, including previously described pathogenic variants p.Arg3X, p.Arg245X (five patients), p.Arg643X, p.Arg929X, and p.Arg1106X. Novel truncating variants were also found, including one in the N-terminal extracellular domain (p.Leu877X), but all other novel truncating variants clustered in the exon 33 encoded C-terminal cytoplasmic domain (52 patients, 14 variants). One variant was observed predominantly in African Americans (carrier frequency of 2.3%). The high incidence of truncating exon 33 variants indicates that they are unlikely to cause Usher syndrome type 1F even though many remove a large portion of the gene. They may be tolerated because PCDH15 has several alternate cytoplasmic domain exons and differentially spliced isoforms may function redundantly. Effects of some PCDH15 truncating variants were addressed by deep sequencing of a panethnic population.

  2. A case's root cause analysis of osteofascial compartment syndrome induced by radial artery puncture and its defensive strategy

    Institute of Scientific and Technical Information of China (English)

    Feng-Ying Kang; Yang Yang; Yu-Ping Tong; Ya-Li Hu; Ning-Ning Xue

    2016-01-01

    Objective: The objective of this study was to reduce or avoid the occurrence of the cases of osteofascial compartment syndrome induced by a radial artery puncture for arterial blood gas analysis. Methods: We analyzed an adverse event using cheese model analysis, “fish bone” analysis, root cause analysis, and other methods. Results: There are three root causes leading to an adverse event:operation technique, assessment of the disease, and informing patient families. However, there are many reasons to promote the occurrence and development of the event. Conclusions: We should analyze and manage the adverse events in patients from the point of view of a system. Developing the measures of a system defense can enhance patient safety and create a good safety culture.

  3. An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogs.

    Science.gov (United States)

    Fyfe, John C; Hemker, Shelby L; Venta, Patrick J; Fitzgerald, Caitlin A; Outerbridge, Catherine A; Myers, Sherry L; Giger, Urs

    2013-08-01

    Cobalamin malabsorption accompanied by selective proteinuria is an autosomal recessive disorder known as Imerslund-Gräsbeck syndrome in humans and was previously described in dogs due to amnionless (AMN) mutations. The resultant vitamin B12 deficiency causes dyshematopoiesis, lethargy, failure to thrive, and life-threatening metabolic disruption in the juvenile period. We studied 3 kindreds of border collies with cobalamin malabsorption and mapped the disease locus in affected dogs to a 2.9Mb region of homozygosity on canine chromosome 2. The region included CUBN, the locus encoding cubilin, a peripheral membrane protein that in concert with AMN forms the functional intrinsic factor-cobalamin receptor expressed in ileum and a multi-ligand receptor in renal proximal tubules. Cobalamin malabsorption and proteinuria comprising CUBN ligands were demonstrated by radiolabeled cobalamin uptake studies and SDS-PAGE, respectively. CUBN mRNA and protein expression were reduced ~10 fold and ~20 fold, respectively, in both ileum and kidney of affected dogs. DNA sequencing demonstrated a single base deletion in exon 53 predicting a translational frameshift and early termination codon likely triggering nonsense mediated mRNA decay. The mutant allele segregated with the disease in the border collie kindred. The border collie disorder indicates that a CUBN mutation far C-terminal from the intrinsic factor-cobalamin binding site can abrogate receptor expression and cause Imerslund-Gräsbeck syndrome.

  4. A twin sibling with Prader-Willi syndrome caused by uniparental disomy conceived after in vitro fertilization.

    Science.gov (United States)

    Atik, T; Aykut, A; Karaca, E; Onay, H; Ozkinay, F; Cogulu, O

    2014-01-01

    The use of assisted reproductive technologies (ART) has increased gradually in the treatment of infertility worldwide. On the other hand ART has been found to be associated with an increased risk of congenital malformations including imprinting defects as well. Although a number of imprinting syndromes have been reported to be related with ART, no case with uniparental disomy (UPD) caused Prader-Willi syndrome (PWS) [OMIM ID: 176270] has been reported in the literature. Here we present a dizygotic twin in which one of them was born with maternal UPD15 following ART. The proband was a 2-year-old boy who had feeding difficulties, generalized hypotonia, frontal bossing, broad forehead, small hands and feet. Laboratory investigations revealed minimal dilatation in 3rd and 4th ventricles and corpus callosum hypoplasia in magnetic resonance imaging, supravalvular pulmonary stenosis in echocardiography and pelvicaliectasia in the USG examinations. Methylation and microsatellite markers analyses showed maternal UPD for chromosome 15. Here we report, for the first time UPD caused PWS patient born after ART.

  5. Improved husbandry to control an outbreak of rainbow trout fry syndrome caused by infection with Flavobacterium psychrophilum

    Science.gov (United States)

    Bebak, J.A.; Welch, T.J.; Starliper, C.E.; Baya, A.M.; Garner, M.M.

    2007-01-01

    Case Description - A cohort of 35,200, 13-week-old, female rainbow trout at a fish farm was evaluated because of a 2-week history of anorexia and lethargy and a mortality rate of approximately 100 fish/d. Clinical Findings - Affected fish were lethargic and thin and had disequilibrium, bilateral exophthalmia, pale red gills and kidneys, red-tinged coelomic fluid, and pale brown livers. Some fish were differentially pigmented bilaterally. The presumptive diagnosis was bacterial or viral septicemia. The definitive diagnosis was rainbow trout fry syndrome caused by infection with Flavobacterium psychrophilum. Treatment and Outcome - A strategy for controlling the outbreak based on reducing pathogen numbers in affected tanks and reducing pathogen spread among tanks was developed. The option of treating with antimicrobial-medicated feed was discussed with the farmer, but was declined. After changes were made, mortality rate declined quickly, with no more deaths within 10 days after the initial farm visit. Clinical Relevance - Bacterial coldwater disease is the most common manifestation of infection with F psychrophilum in fingerling and adult rainbow trout. However, the organism can also cause rainbow trout fry syndrome. This condition should be included on a list of differential diagnoses for septicemia in hatchery-reared rainbow trout fry.

  6. Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.

    Science.gov (United States)

    Ortigoza-Escobar, Juan Darío; Molero-Luis, Marta; Arias, Angela; Oyarzabal, Alfonso; Darín, Niklas; Serrano, Mercedes; Garcia-Cazorla, Angels; Tondo, Mireia; Hernández, María; Garcia-Villoria, Judit; Casado, Mercedes; Gort, Laura; Mayr, Johannes A; Rodríguez-Pombo, Pilar; Ribes, Antonia; Artuch, Rafael; Pérez-Dueñas, Belén

    2016-01-01

    Thiamine transporter-2 deficiency is caused by mutations in the SLC19A3 gene. As opposed to other causes of Leigh syndrome, early administration of thiamine and biotin has a dramatic and immediate clinical effect. New biochemical markers are needed to aid in early diagnosis and timely therapeutic intervention. Thiamine derivatives were analysed by high performance liquid chromatography in 106 whole blood and 38 cerebrospinal fluid samples from paediatric controls, 16 cerebrospinal fluid samples from patients with Leigh syndrome, six of whom harboured mutations in the SLC19A3 gene, and 49 patients with other neurological disorders. Free-thiamine was remarkably reduced in the cerebrospinal fluid of five SLC19A3 patients before treatment. In contrast, free-thiamine was slightly decreased in 15.2% of patients with other neurological conditions, and above the reference range in one SLC19A3 patient on thiamine supplementation. We also observed a severe deficiency of free-thiamine and low levels of thiamine diphosphate in fibroblasts from SLC19A3 patients. Surprisingly, pyruvate dehydrogenase activity and mitochondrial substrate oxidation rates were within the control range. Thiamine derivatives normalized after the addition of thiamine to the culture medium. In conclusion, we found a profound deficiency of free-thiamine in the CSF and fibroblasts of patients with thiamine transporter-2 deficiency. Thiamine supplementation led to clinical improvement in patients early treated and restored thiamine values in fibroblasts and cerebrospinal fluid.

  7. A case report of a pregnancy-related death caused by primary antiphospholipid antibody syndrome

    Directory of Open Access Journals (Sweden)

    Sun Y

    2014-11-01

    Full Text Available Yingjian Sun,1 Manhua Cui,1 Wanan Zhu,2 Weiling Xu,2 Na Li2 1Department of Obstetrics and Gynecology, The Second Hospital of Jilin University, Changchun, Jilin, People's Republic of China; 2Department of Obstetrics and Gynecology, The First Hospital of Jilin University, Changchun, Jilin, People's Republic of China Abstract: Primary antiphospholipid antibody syndrome (APS is a rare clinical event in the People's Republic of China. As APS is easily neglected or misdiagnosed, a delayed treatment can result. The patient reported here was a 32-year-old female who died by systemic venous thrombosis on day 11 after a cesarean section delivery. Luckily, the baby survived. A blood test demonstrated that the patient's platelets were decreased at 19 weeks of gestation. Anti-cardolipin antibody and antiß2GP1 (anti-ß2-glycoprotein-I antibody were positive at 36 weeks and 2 days of gestation. This patient was diagnosed with APS. Unfortunately, as physicians, we could not provide proper treatment as the patient's relatives were concerned that the proposed treatment would have negative effects on the infant's health. This clinical case strongly suggests that physicians need to appreciate that APS is a very serious condition, especially for pregnant women, and that proper treatment should be provided as early as possible to avoid a bad outcome, despite the fact that a cure for this disease is not currently available. Keywords: APS, thrombosis, Hughes syndrome

  8. [A case of AKI-caused minimal change nephrotic syndrome with concomitant pleuritis].

    Science.gov (United States)

    Watanabe, Renya; Abe, Yasuhiro; Sasaki, Masaru; Hamauchi, Aki; Yasunaga, Tomoe; Kurata, Satoshi; Yasuno, Tetsuhiko; Ito, Kenji; Sasatomi, Yoshie; Hisano, Satoshi; Nakashima, Hitoshi

    2016-01-01

    A twenty-year-old man complaining of chest pain was diagnosed as nephrotic syndrome complicated with pleural effusion and ascites. Despite treatment with antibiotics, his fever and high inflammatory reaction persisted. After hospitalization, his urine volume decreased and renal function had deteriorated. As he was suffering from dyspnea, hemodialysis was performed together with chest drainage. His pleural effusion was exudative, and IVIG treatment was added to the antibiotic treatment. He was diagnosed as suspected developed minimal change nephrotic syndrome (MCNS) and administered prednisolone intravenously. His renal function ameliorated as a result of this treatment, enabling him to withdraw from hemodialysis. Inflammatory reaction gradually decreased and his general condition improved. The result of a renal biopsy examination carried out after the hemodialysis treatment confirmed MCNS, which suggested that MCNS had induced acute kidney injury (AKI) atypically in this case. Generally AKI is not induced by MCNS in youth, but it may occur under severe inflammatory conditions. Physicians should be aware that MCNS in young patients may lead to the development of AKI requiring hemodialysis treatment.

  9. [Primary pigmented nodular adrenocortical disease as cause of Cushing's syndrome associated with Carney complex].

    Science.gov (United States)

    Dumić, Miroslav; Janjanin, Nevena; Uroić, Anita Spehar; Ille, Jasenka; Skegro, Mate; Kusec, Vesna; Marjanac, Igor; Matić, Toni; Jelasić, Drazen

    2006-01-01

    We report a 11-year-old girl and two 14-year-old boys with Cushing's syndrome due to primary pigmented nodular adrenocortical disease (PPNAD). In these patients, hypercortisolism is a consequence of autonomous cortisol secretion from adrenal glands and is ACTH-independent. Besides PPNAD, the girl had lentigines, spotty pigmentation on her bucal mucosa and lips and she also had schwannoma. One of the reported boys had prolactinoma. Considering this, those two patients fulfill the criteria for Carney complex which is a type of multiple endocrine neoplasia syndromes inherited in an autosomal dominant trait. The other boy had PPNAD but no other obvious signs of Carney complex were noticed. Family study didn't reveal any clinical or laboratory signs of Carney complex in our patients' first relatives. All of our patients underwent bilateral adrenalectomy (in one of the boys laparoscopic surgery was performed). Glucocorticoid and mineralocorticoid substitution has been started. Adrenal glands were macroscopically normal but pathohistological analysis confirmed the diagnosis of PPNAD.

  10. Oxidative Stress and Metabolic Syndrome: Cause or Consequence of Alzheimer's Disease?

    Directory of Open Access Journals (Sweden)

    Diana Luque-Contreras

    2014-01-01

    Full Text Available Alzheimer’s disease (AD is a major neurodegenerative disease affecting the elderly. Clinically, it is characterized by a progressive loss of memory and cognitive function. Neuropathologically, it is characterized by the presence of extracellular β-amyloid (Aβ deposited as neuritic plaques (NP and neurofibrillary tangles (NFT made of abnormal and hyperphosphorylated tau protein. These lesions are capable of generating the neuronal damage that leads to cell death and cognitive failure through the generation of reactive oxygen species (ROS. Evidence indicates the critical role of Aβ metabolism in prompting the oxidative stress observed in AD patients. However, it has also been proposed that oxidative damage precedes the onset of clinical and pathological AD symptoms, including amyloid-β deposition, neurofibrillary tangle formation, vascular malfunction, metabolic syndrome, and cognitive decline. This paper provides a brief description of the three main proteins associated with the development of the disease (Aβ, tau, and ApoE and describes their role in the generation of oxidative stress. Finally, we describe the mitochondrial alterations that are generated by Aβ and examine the relationship of vascular damage which is a potential prognostic tool of metabolic syndrome. In addition, new therapeutic approaches targeting ROS sources and metabolic support were reported.

  11. Corticotropin-independent Cushing's syndrome caused by an ectopic adrenal adenoma.

    Science.gov (United States)

    Ayala, A R; Basaria, S; Udelsman, R; Westra, W H; Wand, G S

    2000-08-01

    Although nonsecreting suprarenal embryonic remnants are frequently found in the urogenital tract, adenomatous transformation resulting in glucocorticoid excess is a rare phenomenon. We report a case of a 63-yr-old woman that presented with new-onset hirsutism, facial plethora, hypertension, centripetal obesity, and a proximal myopathy. The 24-h urinary free cortisol excretion rate was elevated, and the serum ACTH level was suppressed. The patient failed an overnight and low dose dexamethasone suppression test and did not respond to CRH stimulation. In light of the undetectable baseline morning ACTH levels and the blunt response to CRH, the diagnosis of corticotropin-independent Cushing's syndrome was made. Imaging studies revealed normal adrenal glands and enlargement of a left pararenal nodule incidentally observed 4 yr before the onset of symptoms. Dramatic resolution of symptoms was observed after surgical removal of the 3.5-cm mass. Pathological exam confirmed adrenocortical adenoma in ectopic adrenal tissue. The case reported here represents the unusual circumstance in which the development of adenomatous transformation of ectopic adrenal tissue has been prospectively observed with imaging studies. It illustrates the importance of considering ectopic corticosteroid-secreting tumors in the context of corticotropin-independent Cushing's syndrome.

  12. 5q14.3 deletion neurocutaneous syndrome: Contiguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C: A progressive disease.

    Science.gov (United States)

    Ilari, Rita; Agosta, Guillermo; Bacino, Carlos

    2016-03-01

    We report the case of a young girl who was presented with complex clinical symptoms caused by the deletion of contiguous genes: RASA1 and MEF2C, located on chromosome 5q14.3. Specifically, the diagnosis of her skin disorder and vascular malformations involving central nervous system is consistent with a RASopathy. The child's neurological manifestations are observed in most patients suffering from 5q14.3 by deletion or mutation of the MEF2C gene. A review of the literature allowed us to conclude that the contiguous deletion of genes RASA1 and MEF2C fulfills the criteria for the diagnosis of a Neurocutaneous syndrome as proposed by Carr et al. [2011]. We also assessed the penetrance of RASA1 and clinical manifestations of MEF2C according to the type of deletion. This child described presents the complete symptomatology of both deleted genes. We would also like to highlight the progression of the disorder.

  13. Occipital horn syndrome and classical Menkes syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon

    DEFF Research Database (Denmark)

    Yasmeen, Saiqa; Lund, Katrine; De Paepe, Anne

    2014-01-01

    Menkes disease is an X-linked disorder of copper metabolism caused by mutations in the ATP7A gene. Whereas most of the patients exhibit a severe classical form, about 9% of the patients exhibit a milder form of Menkes disease. The mildest form is called occipital horn syndrome (OHS). Mutations...... patients: two patients with OHS and one patient with classical Menkes disease. The pseudo-exons were inserted between exons 10 and 11, between exons 16 and 17 and between exons 14 and 15 in the three patients, as a result of deep intronic mutations. This is the first time the activation of pseudo...... mechanism, which has hitherto been overlooked.European Journal of Human Genetics advance online publication, 4 September 2013; doi:10.1038/ejhg.2013.191....

  14. A Rare Cause of Acromegaly: Short Review of McCune Albright Syndrome

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    Yusuf Aydın

    2009-06-01

    Full Text Available McCune-Albright syndrome (MAS is characterized by a triad of poly/monostotic fibrous dysplasia, café-au-lait macules, and hyperfunctioning endocrinopathies, including growth hormone (GH excess. Acromegaly, as a manifestation of endocrine hyperfunction with MAS is uncommon. We report a 34-year-old man with MAS and acromegaly, in whom surgical removal of the pituitary tumour has been technically difficult because of bone deformities. A combination of a long-acting somatostatin analogue (Sandostatin LAR and external irradiation were therefore used as treatment. Acromegaly associated with MAS is very rarely seen, and has been the subject of approximately 70 published reports. We present a case of acromegaly associated with MAS and a brief survey of relevant literature. Turk Jem 2009; 13: 13-5

  15. Severe acute respiratory distress syndrome caused by unintentional sewing machine lubricant ingestion: A case report

    Directory of Open Access Journals (Sweden)

    Sunil Kishore

    2016-01-01

    Full Text Available Sewing machine oil ingestion is rare but is possible due to its availability at home. Chemically, it belongs to hydrocarbon family which is toxic if aspirated, owing to their physical properties such as high volatility and low viscosity. On the contrary, sewing machine lubricant has high viscosity and low volatility which makes it aspiration less likely. The main danger of hydrocarbon ingestion is chemical pneumonitis which may be as severe as acute respiratory distress syndrome (ARDS. We report a case of a 5-year-old girl with accidental ingestion of sewing machine lubricant oil, who subsequently developed ARDS refractory to mechanical ventilation. There was much improvement with airway pressure release ventilation mode of ventilation, but the child succumbed to death due to pulmonary hemorrhage.

  16. The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome

    DEFF Research Database (Denmark)

    Dietrich, Andrea; Fernandez, Thomas V; King, Robert A

    2015-01-01

    Tourette syndrome (TS) is a neuropsychiatric disorder characterized by recurrent motor and vocal tics, often accompanied by obsessive-compulsive disorder and/or attention-deficit/hyperactivity disorder. While the evidence for a genetic contribution is strong, its exact nature has yet...... to be clarified fully. There is now mounting evidence that the genetic risks for TS include both common and rare variants and may involve complex multigenic inheritance or, in rare cases, a single major gene. Based on recent progress in many other common disorders with apparently similar genetic architectures...... discovery effort, focusing both on familial genetic variants with large effects within multiply affected pedigrees and on de novo mutations ascertained through the analysis of apparently simplex parent-child trios with non-familial tics. The clinical data and biomaterials (DNA, transformed cell lines, RNA...

  17. A Review of Novel Coronavirus, cause of Middle East Respiratory Syndrome

    Directory of Open Access Journals (Sweden)

    Katayoun Vahdat

    2014-01-01

    Full Text Available Abstract Background: Isolation of a novel virus belonging to coronavirdae family in September 2012, from patients in Middle East who had died of an acute respiratory illness & renal failure lead to researches on this new virus. Here, a brief review to summarize the events of scientific findings of this new emerging virus. Material and Methods: This review is based on a comprehensive search of three databases (Pubmed, Embase and Cochrane and WHO reports. The searched keywords were new coronavirus, Middle East, acute respieratory distress syndrom & Saudi Arabia. Results: Due to novelty of virus only limited papers exist on searched databases, so only 50 papers were identified which after omitting repeated case reports, papers related to SARS and updated WHO reports, 30 papers were finally reviewed. Conclusion: WHO recommendation is evaluation of all patients with acute respiratory illness and history of travel to Saudi Arabia or other countries where this novel virus is epidemic.

  18. Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissues.

    Science.gov (United States)

    Bohlega, Saeed; Al-Ajlan, Huda; Al-Saif, Amr

    2014-05-01

    Fibulin-1 is an extracellular matrix protein that has an important role in the structure of elastic fibers and basement membranes of various tissues. Using homozygosity mapping and exome sequencing, we discovered a missense mutation, p.(Cys397Phe), in fibulin-1 in three patients from a consanguineous family presented with a novel syndrome of syndactyly, undescended testes, delayed motor milestones, mental retardation and signs of brain atrophy. The mutation discovered segregated with the phenotype and was not found in 374 population-matched alleles. The affected cysteine is highly conserved across vertebrates and its mutation is predicted to abolish a disulfide bond that defines the tertiary structure of fibulin-1. Our findings emphasize the crucial role fibulin-1 has in development of the central nervous system and various connective tissues.

  19. Von Hippel Lindau disease with metastatic pancreatic neuroendocrine tumor causing ectopic Cushing's syndrome.

    Science.gov (United States)

    Hatipoglu, Esra; Kepicoglu, Hasan; Rusen, Elif; Kabasakal, Levent; Gundogdu, Sadi; Kadioglu, Pinar

    2013-01-01

    We present a 39-year-old woman who was previously diagnosed with Von Hippel Lindau Disease (VHLD). She had surgery and radiotherapy for cranial hemangioblastoma (HA) 11 years ago and had unilateral adrenalectomy for pheochromocytoma in another hospital 6 month prior to her admission to our center. Moon face, buffalo hump, central obesity, progressive weight gain and menstrual irregularities persisted after adrenalectomy. Her laboratory results were consistent with ectopic Cushing's syndrome (ECS). A pancreatic solid mass with a nodule on the left lung were revealed upon computed tomography. In addition, Gallium-68 Somatostatin Receptor PET confirmed the pancreatic involvement and demonstrated additional lesions on the left lung and in the aortocaval lymphatic system on the right side, suggesting metastatic pancreatic neuroendocrine tumor (PNET). Peptide receptor radionuclide therapy (PRRT) with [177Lutetium-DOTA0,Tyr3] octreotate was performed on the patient, with no side effects observed. She was discharged from the hospital 10 days after the first cycle.

  20. SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature.

    Science.gov (United States)

    Fukami, Maki; Seki, Atsuhito; Ogata, Tsutomu

    2016-04-01

    SHOX in the short arm pseudoautosomal region (PAR1) of sex chromosomes is one of the major growth genes in humans. SHOX haploinsufficiency results in idiopathic short stature and Léri-Weill dyschondrosteosis and is associated with the short stature of patients with Turner syndrome. The SHOX protein likely controls chondrocyte apoptosis by regulating multiple target genes including BNP,Fgfr3, Agc1, and Ctgf. SHOX haploinsufficiency frequently results from deletions and duplications in PAR1 involving SHOX exons and/or the cis-acting enhancers, while exonic point mutations account for a small percentage of cases. The clinical severity of SHOX haploinsufficiency reflects hormonal conditions rather than mutation types. Growth hormone treatment seems to be beneficial for cases with SHOX haploinsufficiency, although the long-term outcomes of this therapy require confirmation. Future challenges in SHOX research include elucidating its precise function in the developing limbs, identifying additional cis-acting enhancers, and determining optimal therapeutic strategies for patients.