排序方式: 共有60条查询结果,搜索用时 390 毫秒
31.
D'Hooghe M Selleslag D Mortier G Van Coster R Vermeersch P Billiet J Bekri S 《European journal of paediatric neurology》2012,16(6):730-735
X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare cause of early onset ataxia, which may be overlooked due to the usually mild asymptomatic anemia. The genetic defect has been identified as a mutation in the ABCB7 gene at Xq12-q13. The gene encodes a mitochondrial ATP-binding cassette (ABC) transporter protein involved in iron homeostasis. Until now only three families have been reported, each with a distinct missense mutation in this gene. We describe a fourth family with XLSA-A and a novel mutation in the ABCB7 gene. 相似文献
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Anty R Bekri S Luciani N Saint-Paul MC Dahman M Iannelli A Amor IB Staccini-Myx A Huet PM Gugenheim J Sadoul JL Le Marchand-Brustel Y Tran A Gual P 《The American journal of gastroenterology》2006,101(8):1824-1833
OBJECTIVE: C-Reactive Protein (CRP), a nonspecific marker of inflammation that is moderately elevated in obesity, metabolic syndrome (MS), and type 2 diabetes, has been proposed as a surrogate marker of nonalcoholic steatohepatitis (NASH). Its clinical usefulness in the diagnosis of NASH was evaluated in severely obese patients without or with MS, diabetes, and NASH and the potential roles of the liver and of the adipose tissue in CRP production were characterized. METHODS: Severely obese patients without NASH (without MS [N = 13], with MS [N = 11], or with MS and diabetes [N = 7]) and with NASH (without [N = 8] or with [N = 7] MS) were studied. For each patient, liver and adipose tissue biopsies were collected during a bariatric surgery and were used to determine the CRP gene expression by real-time PCR. The role of interleukin-6 (IL6) and lipopolysaccharide in CRP expression was also evaluated in subcutaneous adipose tissue obtained during cosmetic abdominoplasty. RESULTS: Plasma CRP levels were elevated in severely obese patients independently from the presence or absence of MS, diabetes, or NASH. CRP gene expression was not only increased in livers but also in adipose tissues of obese patients compared with controls subjects. In human adipose tissue, CRP mRNA levels were positively correlated with those of IL-6 and the CRP expression was enhanced in vitro by IL-6 and lipopolysaccharide. CONCLUSION: Plasma CRP levels are not predictive of the diagnosis of NASH in severely obese patients. The liver but also the adipose tissue can produce CRP, a process which could be dependent on IL6. Therefore, both tissues might contribute to the elevated plasma CRP levels found in obesity. In addition, the large amount of body fat may well produce an important part of the circulating CRP, further limiting its clinical usefulness in the evaluation of NASH in severely obese patients. 相似文献
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Tanya T. Kitova Kristina P. Kilova Borislav D. Kitov Aida Masmoudi Denis A. Milkov Soumeya S. Gaigi 《Central European Journal of Medicine》2014,9(3):481-484
Abstract. Meckel-Gruber syndrome (MKS) is an autosomal recessive lethal malformation. As far as we know, the rate of incidence for the syndrome is 0.02 per 10,000 births. It is estimated that Meckel-Gruber syndrome accounts for 5% of all neural tube defects in Finland. Objective. The aim of this study is to present a case of a fetus with Meckel-Gruber syndrome associated with complete left isomerism. Method. The fetus was obtained after medical interruption of the pregnancy during the fifteenth gestational week. The mother was 36 years old and in a consanguineous marriage. The antenatal ultrasound examination revealed a polymalformative syndrome, leading to a postmortem examination. The fetopathological study of the fetus was conducted at the Centre for Maternity and Neonatology, Tunis, Tunisia, in 2008. Results. The female fetus had a significantly deformed ballooning abdomen, pes equinovarus, flexion of the wrist and a total posterior cleft palate. The central nervous system abnormalities were occipital encephalocele, cystic dilatation of the fourth ventricle, agenesis of corpus callosum and hydrocephalus. The study of the internal organs found dextrocardia, irregular lobulation of the lungs, left isomerism, and polysplenia. The microscopic examination revealed bilateral cystic dilation of the kidneys, fibrous proliferation of the liver and ectasic dilatation of the billiary ducts, representing a ductal plate malformation of the liver. Conclusion. The case is diagnosed with Meckel-Gruber syndrome associated with complete left isomerism, cleft palate and possibly Dandy-Walker syndrome. 相似文献
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Clinical value of inflammatory urinary biomarkers in overt diabetic nephropathy: A prospective study
Jacobien C. Verhave Josée Bouchard Rémi Goupil Vincent Pichette Soumeya Brachemi François Madore Stéphan Troyanov 《Diabetes research and clinical practice》2013
Aims
The evolution of diabetic nephropathy is incompletely accounted by current clinical tools. New biomarkers may refine patient assessment and help monitor therapy. We compared the added predictive value of 7 candidate inflammatory urinary biomarkers to known risk factors of progression.Methods
We prospectively followed 83 patients with overt diabetic nephropathy for a median 2.1 years and obtained repeated measurements of proteinuria, IL-1β, IL-6, IL-8, MCP-1, TNF-α, TGF-β1, and PAI-1.Results
Patients had an initial estimated glomerular filtration rate of 25 ± 9 mL/min/1.73 m2, blood pressure of 142/69 mmHg and used a median of 4 anti-hypertensive medications over the course of the study. The observed rate of renal function decline was 2.9 ± 3.0 mL/min/1.73 m2/year. All urinary biomarkers levels were collinear and for each one except IL-1β, elevated levels predicted a more rapid progression. MCP-1 was the only biomarker increasing during follow-up, which also correlated with a worst outcome. Using multivariate linear regression adjusting for clinical risk factors of progression, urinary MCP-1 and TGF-β1 predicted progression independently and additively to the degree of proteinuria. We dichotomized these 3 biomarkers and observed a renal function decline with 0, 1, 2 or 3 elevated biomarkers of −0.8 ± 1.4, −2.1 ± 2.1, −4.2 ± 2.8 and −6.0 ± 2.8 mL/min/1.73 m2/year, respectively (p < 0.001).Conclusions
Multiple urinary biomarkers predict outcome in overt diabetic nephropathy. However, urinary MCP-1 and TGF-β1 are also independent and additive to proteinuria in predicting the rate of renal function decline and could serve as useful clinical tools in patient risk stratification. 相似文献37.
Renal biopsy (RB) is useful for diagnosis and therapy guidance of renal diseases but incurs a risk of bleeding complications of variable severity, from transitory haematuria or asymptomatic hematoma to life-threatening hemorrhage. Several risk factors for complications after RB have been identified, including high blood pressure, age, decreased renal function, obesity, anemia, low platelet count and hemostasis disorders. These should be carefully assessed and, whenever possible, corrected before the procedure. The incidence of serious complications has become low with the use of automated biopsy devices and ultrasound guidance, which is currently the “gold standard” procedure for percutaneous RB. An outpatient biopsy may be considered in a carefully selected population with no risk factor for bleeding. However, controversies persist on the duration of observation after biopsy, especially for native kidney biopsy. Transjugular RB and laparoscopic RB represent reliable alternatives to conventional percutaneous biopsy in patients at high risk of bleeding, although some factors limit their use. This aim of this review is to summarize the issues of complications after RB, assessment of hemorrhagic risk factors, optimal biopsy procedure and strategies aimed to minimize the risk of bleeding. 相似文献
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Badis CM Aida M Lamia S Ben Romdhane B Ezzedine S Chelli H Soumeya GS 《La Tunisie médicale》2000,78(10):613-615
We present a case of foetal polycystic kidney disease diagnosed at 34 weeks of gesttion thanks to resonance imaging (MRI). MRI demonstrated enlarged foetal kidneys that were low signal intensity on T1 weighted images and high signal intensity on T2 weighted images. These MRI findings suggested a high water containing of the renal parenchyma. 相似文献
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Roussel Edouard Brasse-Lagnel Carole Tuech Jean-Jacques Montialoux Helène Papet Eloise Tortajada Pauline Bekri Soumeya Schwarz Lilian 《World journal of surgery》2022,46(3):666-666
World Journal of Surgery - 相似文献
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Mandia Daniele Plaze Marion Le Ber Isabelle Ewenczyk Claire Morin Alexandre Carle Guilhem Consoli Angèle Degardin Adrian Amad Ali Moreau Caroline Anheim Mathieu Tranchant Christine Mélé Nicolas Roue-Jagot Carole Lagarde Julien Sarazin Marie Hamelin Lorraine Ellul Pierre Pagan Cécile Pettazzoni Magali Bekri Soumeya Belliard Serge Goizet Cyril Wallon David Lamari Foudil Nadjar Yann 《Journal of neurology》2020,267(11):3371-3377
Journal of Neurology - Late-onset Niemann-Pick type C (NP-C) is a rare, underdiagnosed lysosomal disease with neurological manifestations. A specific treatment, miglustat, can stabilize the disease... 相似文献