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41.
Moustafellos P Gourgiotis S Athanasopoulos G Karagianni E Hadjiyannakis E 《International urology and nephrology》2007,39(2):393-395
Primitive neuroectodermal tumor/extraosseous Ewing’s sarcoma (PNET/EES) is a childhood disease rarely seen in adults. It is
a soft tissue tumor, which is often observed in the paraspinal region and lower extremity. We report the case of a 32-year-old
man who presented with sudden abdominal pain on the right upper quadrant that was radiated to the right flank. During the
operation, a spontaneously ruptured right kidney mass was found. The histopathologic and immunohistochemical characteristics
of the excised mass were consistent with PNET/EES. This is the first known reported case of spontaneously ruptured PNET/EES
of the kidney with renal vein tumor thrombus. The clinical details and the management of this case are described. 相似文献
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Shigehito Yamada Rajeev R. Samtani Elaine S. Lee Elizabeth Lockett Chigako Uwabe Kohei Shiota Stasia A. Anderson Cecilia W. Lo 《Developmental dynamics》2010,239(6):1585-1595
Rapid advances in medical imaging are facilitating the clinical assessment of first‐trimester human embryos at increasingly earlier stages. To obtain data on early human development, we used magnetic resonance (MR) imaging and episcopic fluorescence capture (EFIC) to acquire digital images of human embryos spanning the time of dynamic tissue remodeling and organogenesis (Carnegie stages 13 to 23). These imaging data sets are readily resectioned digitally in arbitrary planes, suitable for rapid high‐resolution three‐dimensional (3D) observation. Using these imaging datasets, a web‐accessible digital Human Embryo Atlas ( http://apps.devbio.pitt.edu/humanatlas/ ) was created containing serial 2D images of human embryos in three standard histological planes: sagittal, frontal, and transverse. In addition, annotations and 3D reconstructions were generated for visualizing different anatomical structures. Overall, this Human Embryo Atlas is a unique resource that provides morphologic data of human developmental anatomy that can accelerate basic research investigations into developmental mechanisms that underlie human congenital anomalies. Developmental Dynamics 239:1585–1595, 2010. © 2010 Wiley‐Liss, Inc. 相似文献
45.
Chronic granulomatous disease (CGD) is a rare congenital syndrome that results in severe, recurrent bacterial and fungal infections. The most common form is caused by defects in the CYBB gene, leading to the absence of gp91phox associated with totally abolished NADPH oxidase activity (X91(0) CGD). We report 3 brothers with atypical cases of X-linked CGD, characterized by low levels of expression of gp91phox (X91(-) CGD). A point mutation (T-55C) identified in the CYBB gene's promoter region appears to prevent the full expression of this gene in neutrophils. This results in low levels of expression of gp91phox protein that are correlated with residual oxidase activity in the whole population of neutrophils. The total O(2)(-) production in these cells was approximately 5% of normal. Despite this oxidase activity, the patients experienced severe and life-threatening infections. It was concluded that the O(2)(-) production in the neutrophils of these patients was not sufficient to protect them against infections, and this X91(-) CGD phenotype must be considered to be a severe clinical form of CGD. 相似文献
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Reynolds SS Yanek LR Vaidya D Mora S Moy TF Saudek CD Becker LC Becker DM 《Diabetes research and clinical practice》2006,74(3):267-273
PURPOSE: Little is known about excess risk of incident diabetes conferred by fasting plasma glucose (FPG) within the normal range (<5.6 mmol/l) for high risk families. METHODS: Healthy 30-59 year old non-diabetic siblings (N = 542) of index cases with documented premature coronary disease were followed prospectively for type 2 diabetes. RESULTS: During 8.7+/-3 years of follow-up, incident diabetes was identified in 7.8%. Rates were incremental with baseline non-diabetes FPG thresholds of 5.0, 5.6, 6.1, and 6.7 mmol/l (p for trend < 0.0001). FPG was the strongest predictor of incident diabetes even across levels within the normal range. The multivariable adjusted relative risk was 14.9 (95% CI = 3.4-65.2) at FPG thresholds > or =5.0 mmol/l versus FPG <5.0 mmol/l. The maximal diagnostic efficiency for FPG was 5.50 mmol/l; with sensitivity and specificity 0.782. All FPG thresholds in the normal range between 5.0 and 5.6 mmol/l showed efficiency levels >0.74. The overall area under the ROC curve predicting incident diabetes for normal and prediabetes ranges of FPG was 0.867. CONCLUSION: Higher FPG levels within the designated "normal" range in high risk families are a potent independent risk factor for type 2 diabetes and may serve as a sentinel to trigger primary preventive interventions. 相似文献
49.
Purpose of Review
Hiccups are a common problem that crosses multiple disciplines including neurology, gastroenterology and pulmonology, and primary care. There are no formal guidelines to the treatment of intractable hiccups and treatment is based on experience and anecdotal evidence often relying on older medications. We have reviewed the relevant literature with an emphasis on the last five years or so in management of intractable hiccups.Recent Findings
The production of hiccups is a complex mechanism which involves multiple neurotransmitters and anatomical structure within the central and peripheral nervous system. A number of medications and other therapy have been reported successful for intractable hiccups.Summary
Intractable hiccups can occur more often than we realize and present to multiple medical disciplines. A number of pharmacologic option have been found to be useful including dopamine-blocking medication, baclofen, and gabapentin along with anticonvulsants.50.
Mostefai R Morice-Picard F Boralevi F Sautarel M Lacombe D Stasia MJ McGrath J Taïeb A 《American journal of medical genetics. Part A》2008,(21):2762-2769
Three siblings from Morocco consanguineous family presented with cutaneous poikiloderma following postnatal ichthyosiform lesions, associated with papillomatous lesions, palmoplantar keratoderma, pachyonychia of toenails, fragile carious teeth, and lachrymal duct obstruction. Photosensitivity and blistering improved with age. Atrophic scars were prominent on the limbs. Neutropenia developed in the first year secondary to dysmyelopoiesis affecting the granulocyte lineage, associated with a polyclonal hypergammaglobulinemia. Several broncho-pulmonary infectious episodes complicated the evolution, and cystic fibrosis was first considered on the basis of repeated abnormal sweat chloride tests but not confirmed by molecular analyses. This autosomal recessive disorder matches that described originally as poikiloderma with neutropenia-Clericuzio type in Navajo Indians (OMIM 604173). It is discussed within the group of the major hereditary poikiloderma disorders, that is, Rothmund-Thomson syndrome, dyskeratosis congenita, and Kindler syndrome. 相似文献