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61.
Al Ageeli E Mignot C Afenjar A Whalen S Dorison N Mayer M Esteva B Dubern B Momtchilova M Le Gargasson JF Bursztyn J Héron D 《European journal of medical genetics》2012,55(10):541-547
Myhre syndrome is a very rare condition described thirty years ago and related to mutations in the SMAD4 gene. It has been reported in 19 patients, including 13 males and 6 females before the recent finding of heterozygous mutations in the SMAD4 gene in 19 patients. It is characterized by mental retardation, short stature, muscle hypertrophy, limitation of joints movements, deafness, skeletal anomalies, and facial dysmorphism. Ophthalmological involvement includes hypermetropia and congenital cataract. We report here the new finding of retinal involvement including retinitis pigmentosa and maculopathy in two unrelated patients with Myhre syndrome. The patient with retinitis pigmentosa carried the p.I500T mutation in SMAD4, but no mutation was found in the patient with the maculopathy. 相似文献
62.
Mohamed-Mofeed Fawaz Morsy Nada Abdelmohsen Mohamed Abdelaziz Ahmed Mohamed Boghdady Hydi Ahmed Essam Mohamed Abu Elfadl Mohamed Ali Ismail 《Rheumatology international》2011,31(1):17-21
Angiotensin converting enzyme (ACE) gene polymorphism was previously studied in some cardiovascular diseases. There are only
few studies which investigated this polymorphism in patients with rheumatic heart disease (RHD). The results of these investigations
are inconsistent. Furthermore, gene polymorphism distribution is different in various ethnic populations. We conducted this
study to demonstrate this gene polymorphism in Egyptian children with RHD. Leukocytes DNA was extracted from 139 patients
with RHD and 79 healthy control children. After amplification by the PCR, the products were separated by electrophoresis in
6% polyacrylamide gel and visualized after ethidium bromide staining with UV light. The PCR product is a 190-bp fragment in
the absence of the insertion (D allele) and a 490-bp fragment in the presence of the insertion (I allele). Gene polymorphism
was as follows: DD gene when lane contains only 190-bp fragment, II gene when lane contains only 490-bp fragment and ID gene
when lane contains both fragments. We found that gene polymorphism in both control and patients groups followed the following
order of distribution from highest to lowest: ID, II, DD gene. The frequency in control group was 49.4, 36.7, and 13.9%, respectively.
In patients groups, the gene frequency was 42.5, 30.9, and 26.6%, respectively. DD gene frequency differs significantly between
the two groups. We concluded that patients with RHD have a higher ACE-DD genotype than normal control. ACE-DD genotype may
be a risk factor for RHD in Egyptian children. 相似文献
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64.
Alshaimaa Rezk L R Alnaggar Mohamed Sayed Kareem Essam El-deena Mohamed Gomaa Yousra Hamed 《Diabetes & Metabolic Syndrome: Clinical Research & Reviews》2019,13(1):128-131
IntroductionDiabetic nephropathy is one of the major microvascular complications of diabetes mellitus. Adiponectin is an adipose tissue-derived cytokine that was identified in a human adipose tissue cDNA library. Serum adiponectin levels are found to be reduced in various pathological states including obesity, diabetes mellitus, ischaemic heart disease and arteriosclerosis obliterans and elevated in end stage renal diseases. Objective: to assess the level of plasma adiponectin as an early predictor of microvascular complications in patients with type 2 diabetes mellitus.Methods44 patients with type 2 diabetes recruited from outpatient diabetes clinic in Kasr Alainy hospital. All patients were subjected to full laboratory work-up including: Fasting blood glucose and Post prandial blood glucose, Glycated haemoglobin A1C, Serum creatinine, Serum total cholesterol, Triglycerides, Low density lipoprotein, High density lipoprotein, C-reactive protein titre, serum adiponectin and Urinary albumin/creatinine (UAC) ratio.ResultsThe present study demonstrated that serum adiponectin concentrations had significant positive correlation with UAC ratio (r = 0.534, p = 0.0001). Adiponectin levels showed significant positive correlation in patients with diabetes and hypertension with microalbumiuria (p = .001) or normoalbumiuria (p = 0.004).ConclusionSerum adiponectin level can be a good predictor of diabetic nephropathy in patients with type 2 diabetes mellitus. 相似文献
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66.
Adel Alkhedaide Mohamed Abdo Nassan Tamer Ahmed Ismail Mohamed Mohamed Soliman Essam Hassan Mohamed Hamada Hassan Amer Adil Aldhahrani 《Pathophysiology》2019,26(3-4):361-368
Juniperus procera, a coniferous tree in the cypress family, is one of the famous medicinal plants traditionally used in the southern area of the Arabian peninsula. This study examined the anti-hyperglycemic action of Juniperus procera extract (JPE) on diabetic rats. Sixty male rats were divided into 6 equal groups: control, control treated with JPE (200 mg/kg), diabetic, diabetic treated with insulin (1 U/kg), diabetic treated with JPE (200 mg/kg), and diabetic treated with both insulin and JPE. Blood and tissue samples were collected for serum chemistry, gene expression, and immunohistochemistry analyses, the results of which revealed hyperglycemia and inflammation following diabetes induction. Administration of JPE alone or with insulin reduced the hyperglycemia reported in diabetic rats by 25 %. The immunohistochemical examination of pancreatic tissues demonstrated a moderate restoration of insulin and NF-κB expression in pancreatic and hepatic tissues. Significant recovery was observed for glutathione-S-transferase (GST), superoxide dismutase (SOD), and glutathione peroxidase (GPx) mRNA expression in the livers of rats treated with JPE. Administration of JPE led to similar amelioration of the mRNA expression of pyruvate kinase (PK) and phosphoenol pyruvate carboxy kinase (PEPCK) in the livers of diabetic rats. In addition, diabetic rats treated with insulin, JPE, or a combination of these agents demonstrated an improvement in the mRNA expression of IRS-1 and IRS-2 in hepatic and pancreatic tissues, reaching levels approaching normal. Our findings led us to conclude that JPE has a powerful anti-inflammatory effect accompanied by a moderate hypoglycemic effect that occurs via different mechanisms. 相似文献
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69.
Haisam Atta Amr F. Mourad Essam Elmorshidy Mohamed Mahran 《The Egyptian Journal of Radiology and Nuclear Medicine》2018,49(3):674-680
Purpose
To assess the value of secondary signs in helping to diagnose ligamentum teres (LT) injuries.Materials and methods
Seventy-nine patients enrolled in a prospective case-control study performed MRI examination of the hip joints. Two groups identified according to their clinical presentation. Group I [54 patients] with clinically suspicious LT injury, Group II [25 patients] with no clinical suspicion of such diagnosis considered as control group examining both hip joints [total 50 examined joints]. Patients of the 1st group performed sonar-guided MR arthrography. Secondary MR signs are correlated with the occurrence of LT injuries. Consensus Diagnosis employs a 5 point confidence score.Results
Thirty-one cases show LT injuries in which Bone marrow edema, joint effusion, and coincidental intra-articular pathology was found in 77%, 29% and 19% of cases respectively with (p-value ≤0.001). The combined secondary signs are present in 83% of cases with LT injuries (p?≤?0.001). The significant alteration in dimensions is in width with mean cut off 4.9?mm of injured LT with 87% specificity. Almost perfect agreement (K?=?0.91, p?≤?0.001) recorded in the consensus interpretation between the two radiologists.Conclusion
The presence of the secondary signs of LT injury raises the suspicion for such diagnosis. 相似文献70.