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排序方式: 共有903条查询结果,搜索用时 15 毫秒
31.
Klomp LW Vargas JC van Mil SW Pawlikowska L Strautnieks SS van Eijk MJ Juijn JA Pabón-Peña C Smith LB DeYoung JA Byrne JA Gombert J van der Brugge G Berger R Jankowska I Pawlowska J Villa E Knisely AS Thompson RJ Freimer NB Houwen RH Bull LN 《Hepatology (Baltimore, Md.)》2004,40(1):27-38
Progressive familial intrahepatic cholestasis (PFIC) and benign recurrent intrahepatic cholestasis (BRIC) are clinically distinct hereditary disorders. PFIC patients suffer from chronic cholestasis and develop liver fibrosis. BRIC patients experience intermittent attacks of cholestasis that resolve spontaneously. Mutations in ATP8B1 (previously FIC1) may result in PFIC or BRIC. We report the genomic organization of ATP8B1 and mutation analyses of 180 families with PFIC or BRIC that identified 54 distinct disease mutations, including 10 mutations predicted to disrupt splicing, 6 nonsense mutations, 11 small insertion or deletion mutations predicted to induce frameshifts, 1 large genomic deletion, 2 small inframe deletions, and 24 missense mutations. Most mutations are rare, occurring in 1-3 families, or are limited to specific populations. Many patients are compound heterozygous for 2 mutations. Mutation type or location correlates overall with clinical severity: missense mutations are more common in BRIC (58% vs. 38% in PFIC), while nonsense, frameshifting, and large deletion mutations are more common in PFIC (41% vs. 16% in BRIC). Some mutations, however, lead to a wide range of phenotypes, from PFIC to BRIC or even no clinical disease. ATP8B1 mutations were detected in 30% and 41%, respectively, of the PFIC and BRIC patients screened. 相似文献
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AS Winkler K Friedrich S Velicheti J Dharsee R K?nig A Nassri M Meindl A Kidunda TH Müller L Jilek-Aall W Matuja T Gotwald E Schmutzhard 《African health sciences》2013,13(2):529-540
Background
Onchocerciasis has been implicated in the pathogenesis of epilepsy. The debate on a potential causal relationship between Onchocerca volvulus and epilepsy has taken a new direction in the light of the most recent epidemic of nodding syndrome.Objective
To document MRI changes in people with different types of epilepsy and investigate whether there is an association with O. volvulus infection.Methods
In a prospective study in southern Tanzania, an area endemic for O. volvulus with a high prevalence of epilepsy and nodding syndrome, we performed MRI on 32 people with epilepsy, 12 of which suffered from nodding syndrome. Polymerase chain reaction (PCR) of O. volvulus was performed in skin and CSF.Results
The most frequent abnormalities seen on MRI was atrophy (twelve patients (37.5%)) followed by intraparenchymal pathologies such as changes in the hippocampus (nine patients (28.1%)), gliotic lesions (six patients (18.8%)) and subcortical signal abnormalities (three patients (9.4%)). There was an overall trend towards an association of intraparenchymal cerebral pathologies and infection with O. volvulus based on skin PCR (Fisher''s Exact Test p=0.067) which was most pronounced in children and adolescents with nodding syndrome compared to those with other types of epilepsy (Fisher''s Exact Test, p=0.083). Contrary to skin PCR results, PCR of CSF was negative in all patients.Conclusion
The observed trend towards an association of intraparenchymal cerebral pathological results on MRI and a positive skin PCR for O. volvulus despite negative PCR of CSF is intriguing and deserves further attention. 相似文献35.
36.
Primary Immunodeficiency Diseases in Latin America: The Second Report of the LAGID Registry 总被引:4,自引:4,他引:0
Leiva LE Zelazco M Oleastro M Carneiro-Sampaio M Condino-Neto A Costa-Carvalho BT Grumach AS Quezada A Patiño P Franco JL Porras O Rodríguez FJ Espinosa-Rosales FJ Espinosa-Padilla SE Almillategui D Martínez C Tafur JR Valentín M Benarroch L Barroso R Sorensen RU;Latin American Group for Primary Immunodeficiency Diseases 《Journal of clinical immunology》2007,27(1):101-108
This is the second report on the continuing efforts of LAGID to increase the recognition and registration of patients with
primary immunodeficiency diseases in 12 Latin American countries: Argentina, Brazil, Chile, Colombia, Costa Rica, Honduras,
Mexico, Panama, Paraguay, Peru, Uruguay, and Venezuela. This report reveals that from a total of 3321 patients registered,
the most common form of primary immunodeficiency disease was predominantly antibody deficiency (53.2%) with IgA deficiency
reported as the most frequent phenotype. This category was followed by 22.6% other well-defined ID syndromes, 9.5% combined
T- and B-cell inmunodeficiency, 8.6% phagocytic disorders, 3.3% diseases of immune dysregulation, and 2.8% complement deficiencies.
All countries that participated in the first publication in 1998 reported an increase in registered primary immunodeficiency
cases, ranging between 10 and 80%. A comparison of the estimated minimal incidence of X-linked agammaglobulinemia, chronic
granulomatous disease, and severe combined immunodeficiency between the first report and the present one shows an increase
in the reporting of these diseases in all countries. In this report, the estimated minimal incidence of chronic granulomatous
disease was between 0.72 and 1.26 cases per 100,000 births in Argentina, Chile, Costa Rica, and Uruguay and the incidence
of severe combined immunodeficiency was 1.28 and 3.79 per 100,000 births in Chile and Costa Rica, respectively. However, these
diseases are underreported in other participating countries. In addition to a better diagnosis of primary immunodeficiency
diseases, more work on improving the registration of patients by each participating country and by countries that have not
yet joined LAGID is still needed.
Latin American Group for Primary Immunodeficiency Diseases 相似文献
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38.
CU Menakaya AS Rigby Y Hadland E Barron H Sharma 《Annals of the Royal College of Surgeons of England》2014,96(2):106-110
Introduction
The optimal treatment of high energy tibial fractures remains controversial and a challenging orthopaedic problem. The role of external fixators for all these tibial fractures has been shown to be crucial.Methods
A five-year consecutive series was reviewed retrospectively, identifying two treatment groups: Ilizarov and Taylor Spatial Frame (TSF; Smith & Nephew, Memphis, TN, US). Fracture healing time was the primary outcome measure.Results
A total of 112 patients (85 Ilizarov, 37 TSF) were identified for the review with a mean age of 45 years. This was higher in women (57 years) than in men (41 years). There was no significant difference between frame types (p=0.83). The median healing time was 163 days in both groups. There was no significant difference in healing time between smokers and non-smokers (180 vs 165 days respectively, p=0.07), open or closed fractures (p=0.13) or age and healing time (Spearman''s r=0.12, p=0.18). There was no incidence of non-union or re-fracture following frame removal in either group.Conclusions
Despite the assumption of the rigid construct of the TSF, the median time to union was similar to that of the Ilizarov frame and the TSF therefore can play a significant role in complex tibial fractures. 相似文献39.
Morton DH Salen G Batta AK Shefer S Tint GS Belchis D Shneider B Puffenberger E Bull L Knisely AS 《Gastroenterology》2000,119(1):188-195
BACKGROUND & AIMS: The mechanism for abnormal hepatic bile acid transport was investigated in an 18-month-old Amish boy who presented with pruritus, poor growth, and severe bleeding episodes. Serum bilirubin, gamma-glutamyltranspeptidase, and cholesterol levels were normal, but prothrombin time and partial thromboplastin time were prolonged and bone alkaline phosphatase level was elevated. METHODS AND RESULTS: Cholic acid plus chenodeoxycholic acid levels measured by capillary gas-chromatography were 32 times higher than control in serum (34.7 vs. 1.1+/-0.4 microg/dL) but were not detected in liver and were reduced in gallbladder bile. Treatment with ursodiol, a more hydrophilic bile acid, improved pruritus, produced 37% weight gain, and after 2 years reduced serum primary bile acid concentrations about 85%, while accounting for 71% of serum and 24% of biliary bile acid conjugates. On ursodiol therapy, hepatic bile acid synthesis was enhanced 2-fold compared with controls, and microscopy revealed chronic hepatitis without cholestasis. Three younger sisters with elevated serum bile acids responded positively to ursodiol. Microsatellite markers for the FIC1 (gene for Byler's disease) region in these 4 children were inconsistent with linkage to FIC1. CONCLUSIONS: Conjugated cholic acid and chenodeoxycholic acid were synthesized in the liver and secreted into bile but could not reenter the liver from portal blood and accumulated in serum. In contrast, unconjugated ursodiol entered the liver and was conjugated and secreted into bile. Thus, the enterohepatic circulation of all conjugated bile acids was interrupted at the hepatic sinusoidal basolateral membrane. Unconjugated ursodiol bypassed the hepatic uptake block to enlarge the biliary and intestinal bile acid pools. A mutation in FIC1 recognized among the Amish and linkage of the disorder to FIC1 were excluded. 相似文献
40.
Sílvia Vilarinho E. Zeynep Erson-Omay Akdes Serin Harmanci Raffaella Morotti Geneive Carrion-Grant Jacob Baranoski A.S. Knisely Udeme Ekong Sukru Emre Katsuhito Yasuno Kaya Bilguvar Murat Günel 《Journal of hepatology》2014
Hepatocellular carcinoma (HCC) rarely occurs in childhood. We describe a patient with new onset of pruritus at 8 months of age who at 17 months of age was found to have a 2.5 cm HCC. To delineate the possible genetic basis of this tumour, we performed whole exome sequencing (WES) of the germline DNA and identified two novel predictably deleterious missense mutations in ABCB11, encoding bile salt export pump (BSEP), confirmed in the parental DNA as bi-allelic and inherited. Although inherited ABCB11 mutations have previously been linked to HCC in a small number of cases, the molecular mechanisms of hepatocellular carcinogenesis in ABCB11 disease are unknown. WES of the HCC tissue uncovered somatic driver mutations in the beta-catenin (CTNNB1) and nuclear-factor-erythroid-2-related-factor-2 (NFE2L2) genes. Moreover, clonality analysis predicted that the CTNNB1 mutation was clonal and occurred earlier during carcinogenesis, whereas the NFE2L2 mutation was acquired later. Interestingly, background liver parenchyma showed no inflammation or fibrosis and BSEP expression was preserved. This is the first study to identify somatic CTNNB1 and NFE2L2 mutations in early childhood arisen in the setting of inherited bi-allelic ABCB11 mutations. Rapid WES analysis expedited this child’s diagnosis and treatment, and likely improved her prognosis. 相似文献