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1.
Attila Patocs Peter Gergics Katalin Balogh Miklos Toth Ferenc Fazakas Istvan Liko Karoly Racz 《BMC medical genetics》2008,9(1):29
Von Hippel-Lindau disease (VHL) is a rare autosomal dominant disease characterized by development of cystic and tumorous lesions
at multiple sites, including the brain, spinal cord, kidneys, adrenals, pancreas, epididymis and eyes. The clinical phenotype
results from molecular abnormalities of the VHL tumor suppressor gene, mapped to human chromosome 3p25-26. The VHL gene encodes two functionally active VHL proteins due to the presence of two translational initiation sites separated by
53 codons. The majority of disease-causing mutations have been detected downstream of the second translational initiation
site, but there are conflicting data as to whether few mutations located in the first 53 codons, such as the Pro25Leu could
have a pathogenic role. In this paper we report a large Hungarian VHL type 2 family consisting of 32 members in whom a disease-causing
AGT80AAT (Ser80Ile) c.239G>A, p.Ser80Ile mutation, but not the concurrent CCT25CTT (Pro25Leu) c.74C>T, p.Pro25Leu variant
co-segregated with the disease. To our knowledge, the Ser80Ile mutation has not been previously described in VHL type 2 patients
with high risk of pheochromocytoma and renal cell cancer. Therefore, this finding represents a novel genotype-phenotype association
and VHL kindreds with Ser80Ile mutation will require careful surveillance for pheochromocytoma. We concluded that the Pro25Leu
variant is a rare, neutral variant, but the presence such a rare gene variant may make genetic counseling difficult. 相似文献
2.
Miklos Degré Geir Bukholm Ellen E. Lund Gisle Djupesland 《Medical microbiology and immunology》1978,166(1-4):151-156
Herpes virus hominis type 1 was isolated from the trigeminal ganglion (ganglion semilunare, gasservian) in three out of 20 randomly selected autopsies. Two of the three patients had been treated with immunosuppressive or cytostatic agents. Clinical signs of herpes infection were not observed during the previous 6 months. No virus was isolated from the facial ganglion (geniculate ganglion) in the same 20 cases. The findings are discussed in relation to the viral etiology of acute peripheral facial palsy. 相似文献
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Tarek Alhamad Michelle Lubetzky Krista L. Lentine Emmanuel Edusei Ronald Parsons Martha Pavlakis Kenneth J. Woodside Deborah Adey Christopher D. Blosser Beatrice P. Concepcion John Friedewald Alexander Wiseman Neeraj Singh Su-Hsin Chang Gaurav Gupta Miklos Z. Molnar Arpita Basu Edward Kraus Song Ong Arman Faravardeh Ekamol Tantisattamo Leonardo Riella Jim Rice Darshana M. Dadhania 《American journal of transplantation》2021,21(9):3034-3042
Kidney allograft failure and return to dialysis carry a high risk of morbidity. A practice survey was developed by the AST Kidney Pancreas Community of Practice workgroup and distributed electronically to the AST members. There were 104 respondents who represented 92 kidney transplant centers. Most survey respondents were transplant nephrologists at academic centers. The most common approach to immunosuppression management was to withdraw the antimetabolite first (73%), while only 12% responded they would withdraw calcineurin inhibitor (CNI) first. More than 60% reported that the availability of a living donor is the most important factor in their decision to taper immunosuppression, followed by risk of infection, risk of sensitization, frailty, and side effects of medications. More than half of respondents reported that embolization was either not available or offered to less than 10% as an option for surgical intervention. Majority reported that ≤50% of failed allograft patients were re-listed before dialysis, and less than a quarter of transplant nephrologists performed frequent visits with their patients with failed kidney allograft after they return to dialysis. This survey demonstrates heterogeneity in the care of patients with a failing allograft and the need for more evidence to guide improvements in clinical practice related to transition of care. 相似文献
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François Lüthi Miklos Pless Serge Leyvraz Beat Biedermann Emilie Müller Richard Hermann Christian Monnerat 《Supportive care in cancer》2010,18(12):1515-1520