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11.
Marcel Bokelmann Uwe Vogel Franka Debeljak Ariane Düx Silke Riesle-Sbarbaro Angelika Lander Annette Wahlbrink Nicole Kromarek Stuart Neil Emmanuel Couacy-Hymann Joseph Prescott Andreas Kurth 《Viruses》2021,13(11)
Although there have been documented Ebola virus disease outbreaks for more than 40 years, the natural reservoir host has not been identified. Recent studies provide evidence that the Angolan free-tailed bat (Mops condylurus), an insectivorous microbat, is a possible ebolavirus reservoir. To investigate the potential role of this bat species in the ecology of ebolaviruses, replication, tolerance, and persistence of Ebola virus (EBOV) were investigated in 10 different primary bat cell isolates from M. condylurus. Varying EBOV replication kinetics corresponded to the expression levels of the integral membrane protein NPC1. All primary cells were highly tolerant to EBOV infection without cytopathic effects. The observed persistent EBOV infection for 150 days in lung primary cells, without resultant selective pressure leading to virus mutation, indicate the intrinsic ability of EBOV to persist in this bat species. These results provide further evidence for this bat species to be a likely reservoir of ebolaviruses. 相似文献
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Bronchoscopic removal of foreign bodies in adults: experience with 62 patients from 1974-1998. 总被引:2,自引:0,他引:2
The authors reviewed their experience with therapeutic bronchoscopy for removal of tracheobronchial foreign bodies in the adult. Bronchoscopy records and collection of foreign bodies in the endoscopic department were retrospectively examined. Among 37,466 bronchoscopies performed between 1974-1998, 62 (0.2%) were performed for the removal of tracheobronchial foreign bodies. Medical history was suggestive of foreign body aspiration in 33 patients and the chest radiograph was suggestive in 10 patients. The procedure was performed with the flexible bronchoscope in 42 patients (68%), rigid bronchoscope in 4 (6%), and with both in 16 (26%) patients. Foreign bodies were found in the right bronchial tree on 42 occasions, in the left on 20 and in the trachea once. In 39 patients, inflammatory granulations were found around the foreign body. The origins of the foreign bodies included: bone fragments (n=31), vegetable (n=10), broncholith (n=8), a part of dental prosthesis (n=7), endodontic needle (n=2), a metallic (n=2), or plastic (n=1) particle, a tracheostomy tube (n=1) and a match (n=1). In one patient, 2 foreign bodies were found. The foreign bodies were successfully removed in all but 2 patients (3%). The most useful instruments for removal were alligator forceps and the wire basket. Foreign bodies in the tracheobronchial system are rare in adults. They can be successfully removed in the majority of patients under either flexible or rigid bronchoscopy. 相似文献
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Štefan Blazina Gašper Markelj Anja Koren Jeverica Nataša Toplak Nevenka Bratanič Janez Jazbec Peter Kopač Maruša Debeljak Alojz Ihan Tadej Avčin 《Journal of clinical immunology》2016,36(8):764-773
An abnormal regulation of immune responses leads to autoimmune and inflammatory manifestations in patients with primary immunodeficiencies (PIDs). The objective of our study was to evaluate the frequency of non-infectious and non-malignant manifestations in a large cohort of patients included in the Slovenian national PID registry and to assess the time of manifestation onset with respect to the time of PID diagnosis. Medical records of registered patients were reviewed. Data on autoimmunity, lymphoproliferation, autoinflammation, allergies, PID diagnosis, and underlying genetic defects were collected and analyzed. The time of each manifestation onset was determined and compared with the time of PID diagnosis. As of May 2015, 247 patients with 50 different PIDs were registered in the Slovenian national PID registry (147 males, 100 females; mean age 20 years). Mean disease duration was 14 years; 78 % of patients were younger than 18 years; and 22 % of patients were adults. Diagnosis of PID was genetically confirmed in 51 % of patients. Non-infectious and non-malignant manifestations were present in 69/235 (29 %) patients, including autoimmune manifestations in 52/235 (22 %), lymphoproliferative/granulomatous in 28/235 (12 %), autoinflammatory in 12/247 (5 %), and allergic manifestations in 10/235 (4 %) of all registered patients. Autoimmune manifestations were present in all patients whose PIDs were classified as diseases of immune dysregulation, 47 % of patients with chronic granulomatous disease, and 38 % of patients with predominantly antibody immune deficiencies. A high prevalence of non-infectious and non-malignant manifestations among patients in the Slovenian national PID registry suggests common genetic factors of autoimmunity, inflammation, and immunodeficiency. Patients with PID should be routinely screened for autoimmune and inflammatory manifestations at the time of PID diagnosis and during the long-term follow up. 相似文献
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A. Šedivá R. Horváth V. Maňásek A. Gregorová P. Plevová M. Horáčková M. Tesařová N. Toplak M. Debeljak 《Clinical genetics》2014,86(6):564-569
Familial Mediterranean fever (FMF) is a well‐described monogenic autosomal recessive disorder with highest occurrence in the Mediterranean region. In this article, we describe the experience of a center in the Czech Republic that follows four families with members bearing mutations in MEFV gene without provable ancestry from the Mediterranean region. We also discuss the clinical picture of the heterozygous variants that were present in our cohort. The typical clinical presentation in heterozygotes corresponds to data described in the international literature. The possibility of combination of mutations and/or polymorphisms in different genes and epigenetic or environmental influences on the clinical symptoms are taken into account. 相似文献
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H Matthaei J Wu M Dal Molin M Debeljak P Lingohr N Katabi DS Klimstra NV Adsay JR Eshleman RD Schulick KW Kinzler B Vogelstein RH Hruban A Maitra 《HPB : the official journal of the International Hepato Pancreato Biliary Association》2012,14(10):677-683
Background
Activating point mutations of GNAS at codon 201 have been detected in approximately two thirds of intraductal papillary mucinous neoplasms (IPMNs) of the pancreas. Intraductal papillary neoplasms of the bile ducts (IPNBs) morphologically resemble pancreatic IPMNs. This study sought to assess the mutational status of GNAS at codon 201 in IPNBs.Methods
Thirty-four patients were included. DNA from microdissected IPNBs was subjected to a polymerase chain reaction and ligation method for the detection of GNAS mutations at codon 201 and of KRAS mutations at codon 12. Mutational status was compared with clinical and pathologic data.Results
The IPNBs had a median diameter of 3.5 cm and were located intrahepatically (n= 6), extrahepatically (n= 13), both intra- and extrahepatically (n= 4) or in the gallbladder (intracystic papillary neoplasms, n= 11). Most exhibited pancreatobiliary differentiation (n= 20), high-grade dysplasia (n= 26) and an associated adenocarcinoma (n= 20). Analysis of GNAS codon 201 identified only one mutant sample in a multifocal intestinal subtype intrahepatic IPNB with high-grade dysplasia. Six lesions harboured a KRAS codon 12 mutation.Conclusions
GNAS codon 201 mutations are uncommon in IPNBs, by contrast with pancreatic IPMNs. More comprehensive molecular profiling is needed to uncover the pathways involved in IPNB development. 相似文献16.
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Avbelj M Tahirovic H Debeljak M Kusekova M Toromanovic A Krzisnik C Battelino T 《European journal of endocrinology / European Federation of Endocrine Societies》2007,156(5):511-519
OBJECTIVE: Thyroid dyshormonogenesis is a genetically heterogeneous group of inherited disorders in the enzymatic cascade of thyroid hormone synthesis that result in congenital hypothyroidism (CH). Thyroid peroxidase gene (TPO) mutations are one of the most common causes of thyroid dyshormonogenesis. The aim of this study was to identify TPO gene defects in a cohort of patients with thyroid dyshormonogenesis from Slovenia, Bosnia, and Slovakia. DESIGN AND METHODS: Forty-three patients with permanent CH and orthoptic thyroid glands from 39 unrelated families participated in the study. Mutational analysis of the TPO gene and part of its promoter consisted of single-stranded conformation polymorphism analysis, sequencing, and restriction fragment length polymorphism (RFLP) analysis. Results: TPO gene mutations were identified in 46% of participants. Seven different mutations were identified, four mutations of these being novel, namely 613C > T (R175X), 1519_1539del (A477_N483del), 2089G > A (G667S), and 2669G > A (G860R). Only a single allele mutation was identified in 65% of the TPO mutation carriers. CONCLUSIONS: The results showed a higher prevalence of TPO gene mutations in thyroid dyshormonogenesis when compared with published studies. The high percentage of single allele mutations implied possible intronic or regulatory TPO gene mutations or monoallelic expression. 相似文献