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Callén E Casado JA Tischkowitz MD Bueren JA Creus A Marcos R Dasí A Estella JM Muñoz A Ortega JJ de Winter J Joenje H Schindler D Hanenberg H Hodgson SV Mathew CG Surrallés J 《Blood》2005,105(5):1946-1949
Fanconi anemia (FA) is a genetic disease characterized by bone marrow failure and cancer predisposition. Here we have identified Spanish Gypsies as the ethnic group with the world's highest prevalence of FA (carrier frequency of 1/64-1/70). DNA sequencing of the FANCA gene in 8 unrelated Spanish Gypsy FA families after retroviral subtyping revealed a homozygous FANCA mutation (295C>T) leading to FANCA truncation and FA pathway disruption. This mutation appeared specific for Spanish Gypsies as it is not found in other Gypsy patients with FA from Hungary, Germany, Slovakia, and Ireland. Haplotype analysis showed that Spanish Gypsy patients all share the same haplotype. Our data thus suggest that the high incidence of FA among Spanish Gypsies is due to an ancestral founder mutation in FANCA that originated in Spain less than 600 years ago. The high carrier frequency makes the Spanish Gypsies a population model to study FA heterozygote mutations in cancer. 相似文献
54.
Cecal fecaloma mimicking colonic neoplasm 总被引:2,自引:0,他引:2
Arturo A. Cid MD Teresa Pietruk MD Changiz Z. Bidari MD Dr. Murray N. Ehrinpreis MD 《Digestive diseases and sciences》1981,26(12):1134-1137
Summary We present the case of a young man with chronic diarrhea associated with an apparent cecal neoplasm roentgenographically. The lesion was diagnosed as a fecaloma only after the curative right hemicolectomy specimen was examined. 相似文献
55.
Juan-Manuel Fernandez-Somoza Manuel Ginarte Esteban Otero Santiago Tom Carlos Soutullo Aarn Martínez-Ulloa Arturo Gonzalez-Quintela 《Medicine》2021,100(22)
Terry nails and Lindsay nails are similar forms of proximal apparent leukonychia (PAL). A change in nail bed vascularity is thought to be responsible for PAL. The study was aimed at investigating the frequency of PAL in patients attending a liver disease clinic, the factors associated with its presence, its value for detecting cirrhosis, its prognostic value for mortality, and associated capillaroscopic findings.A total of 521 patients were included (age range, 18–94 years; 69% men). Systematic nail photographs were evaluated by 2 independent investigators. Disease-related data were obtained from the medical records. Mortality was evaluated after 7 years of follow-up. Nailfold capillaroscopy was performed on a subset of 80 patients.PAL was present in 228 patients (43.8%; Terry nails in 205, Lindsay nails in 20, and both in 3). The kappa-coefficient of interobserver agreement was 0.82. The presence of PAL was associated with cirrhosis and, accordingly, with portal hypertension and hepatocellular dysfunction. The positive likelihood ratio of PAL for the diagnosis of cirrhosis was 1.6 (95% CI 1.3–1.92). PAL was independently associated with chronic alcohol abuse and was not a significant predictor of mortality. Venous loop dilatation and prominence of the venous plexus were observed on capillaroscopy in patients with cirrhosis but were not significantly associated with PAL.In summary, PAL is a common finding in patients from a liver clinic; it is associated with liver cirrhosis and with alcohol abuse. PAL is not associated with specific capillaroscopic findings. We propose the generic term proximal apparent leukonychia instead of classic eponymous titles to avoid confusion in the literature. 相似文献
56.
Radial glia give rise to adult neural stem cells in the subventricular zone 总被引:28,自引:0,他引:28
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Merkle FT Tramontin AD García-Verdugo JM Alvarez-Buylla A 《Proceedings of the National Academy of Sciences of the United States of America》2004,101(50):17528-17532
Neural stem cells with the characteristics of astrocytes persist in the subventricular zone (SVZ) of the juvenile and adult brain. These cells generate large numbers of new neurons that migrate through the rostral migratory stream to the olfactory bulb. The developmental origin of adult neural stem cells is not known. Here, we describe a lox-Cre-based technique to specifically and permanently label a restricted population of striatal radial glia in newborn mice. Within the first few days after labeling, these radial glial cells gave rise to neurons, oligodendrocytes, and astrocytes, including astrocytes in the SVZ. Remarkably, the rostral migratory stream contained labeled migratory neuroblasts at all ages examined, including 150-day-old mice. Labeling dividing cells with the S-phase marker BrdUrd showed that new neurons continue to be produced in the adult by precursors ultimately derived from radial glia. Furthermore, both radial glia in neonates and radial glia-derived cells in the adult lateral ventricular wall generated self-renewing, multipotent neurospheres. These results demonstrate that radial glial cells not only serve as progenitors for many neurons and glial cells soon after birth but also give rise to adult SVZ stem cells that continue to produce neurons throughout adult life. This study identifies and provides a method to genetically modify the lineage that links neonatal and adult neural stem cells. 相似文献
57.
BACKGROUND AND OBJECTIVES: Patient-related blood donors contribute to a significant proportion of the blood units collected in hospital-based blood banks. However, there is some concern on the safety of this kind of donation because of the possible existence of incentives for the donor to conceal deferrable risk factors, thus increasing the risk of donation within the window-period of transfusion-transmitted infections. We tested the hypothesis that if patient-related blood donors are less safe than community ones, the former would display both a higher prevalence of viral markers and a predominance of undisclosed risk-factors with low social acceptability. DESIGN AND METHODS: Comparison of virus reactivity rates against hepatitis C virus (HCV), hepatitis B virus (HBV) and human immunodeficiency virus (HIV), and the associated risk-factors, between patient-related and community donors who donated whole blood in our center during a five-year period. RESULTS: During the period under study 72,226 donors gave 149,944 whole blood units, of which 22,888 (15.3%) were provided by patient-related donors. There were 273 confirmed virus-reactive donations (15 anti-HIV, 148 anti-HCV and 110 HBsAg). The adjusted prevalence of virus reactivity was 19 (95% CI: 11-35) times higher in first-time donors than in repeat donors, 3.5 (95% CI: 2.3-4.1) times higher in donors > or = 30 years old than in younger ones, and 2.5 (95% CI: 1.9-3.2) times higher in patient-related donors than in community donors. With regard to deferrable risk-factors not disclosed at the time of donation, there was no significant difference between patient-related and community donors in the frequency of people who denied any risk-factor or who admitted intravenous drug use or high-risk sex. Past household contact with individuals having liver disease was significantly more frequent in patient-related donors than in community ones. INTERPRETATION AND CONCLUSIONS: Our results do not support the hypothesis that patient-related donors represent an increased risk of window-period donation because they conceal deferrable risk factors more frequently than community donors. 相似文献
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William Froehlich Jip L. Tolenaar Kevin M. Harris Craig Strauss Thoralf M. Sundt Thomas T. Tsai Mark D. Peterson Arturo Evangelista Daniel G. Montgomery Eva Kline-Rogers Christoph A. Nienaber James B. Froehlich Eric M. Isselbacher Kim A. Eagle Santi Trimarchi 《The American journal of medicine》2018,131(3):300-306