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Does the NPHS1 c.349G>A Polymorphism Affect Outcomes in FSGS Patients?
No full textBackground: Treatment of steroid-resistant nephrotic syndrome with a focal segmental glomerulosclerosis (FSGS) histological diagnosis can be challenging, particularly in the presence of ciclosporin resistance. The importance of mutations in genes encoding the structural proteins of podocytes has been recently recognized and may influence medical decision-making. The c.349G>A variant of the NPHS1 gene has been associated with a poorer prognosis in IgA nephropathy and nephrotic syndrome.Case Diagnosis/Treatment: To study the potential association of the NPHS1: c.349G>A sequence variant with renal disease, we analyzed five children in whom this variant had been identified and who all presented with nephrotic syndrome and the histological diagnosis of FSGS. Although this sequence variant was present in all cases, one patient had steroid-responsive nephrotic syndrome without relapse following standard initial therapy, three responded to a variety of treatments, and one patient was unresponsive.Conclusion: The NPHS1: c.349G>A sequence variant may either be independent of, or a modifying agent in, the progression of the disease, and does not preclude these and similar patients from appropriate treatment and entry into clinical trials. Larger trials are needed to evaluate the therapeutic response and long-term outcome of FSGS patients with different NPHS gene mutations
Maternal High Sodium Diet Yields Kidney Alterations in Mice Offspring
No full textBackground-Aims: We aimed to examine the effects of a maternal high-sodium diet in the kidney and blood pressure (BP) of the offspring.Materials and Methods: Beginning eight weeks before pregnancy, female mice received a diet containing either 0.25% sodium chloride (NaCl) - (standard chow, SC) or 4.0% NaCl (high-sodium, HS). Females were mated with male mice fed a SC diet. Their offspring were analyzed at three different ages: at birth, at day 10, and at three months.Results: Before mating, HS dams exhibited higher corticosterone levels and higher BP than the SC dams. At birth, neonatal mortality was higher in the offspring of HS dams than in those from SC dams. At three months of age, HS offspring compared to SC offspring, showed higher proteinuria and BP, greater glomerular sclerosis, and lower creatinine clearance, blood urea nitrogen clearance, and glomerular filtration rate. The fractional excretions of sodium, potassium, urea, and the protein expressions of the renin-angiotensin system (RAS) were higher in HS than in SC offspring, but AT2R, Wilms’ tumor suppressor gene (WT)1 and podocin were lower in HS than in SC offspring.Conclusion: The offspring exposed to a maternal diet with high sodium content shows glomerular sclerosis with consequent high blood pressure and a shift in the renal expression of proteins (WT1, podocin, and RAS) at maturity. Consequently, the renal function of the offspring deteriorates more quickly than offspring from mothers fed a standard sodium diet
Pragmatic Language Deficits in Asperger’s Syndrome (Higher Functioning Autism): Review of Pathology and Effective Treatments in Adults
No full textAutism is a neuro developmental disorder. Social communication deficiency is one of the core features of the syndrome. Individuals with autism spectrum disorder vary in their ability considerably. Despite being of normal or above normal intelligence those with higher functioning autism may present with varying degree of deficits in social communication.Few studies have considered structural abnormalities with respect to brain functioning. This article examines evidence in literature for pragmatic language deficits, origins, assessments and treatments among adolescents and adults with higher functioning autism or Asperger’s syndrome
Human Platelet Lysates Promote the Differentiation Potential of Adipose-Derived Adult Stem Cell Cultures
No full textAdipose tissue from liposuction is a rich source for human mesenchymal stem cells. This type of adult stem cell is ethically acceptable, that paved the way for research on their potential use in regenerative medicine. However, any clinical application of adult stem cells is impeded by the use of FBS as an animal-derived growth supplement. In addition, stem cell cultures gained importance as innovative human-based alternative to animal testing, in vitro toxicology, drug testing and safety assessment. Thus, animal-derived component-free culture protocols are mandatory for a successful application of human stem cell-based testing systems under humanized conditions.Recently, we succeeded in using human platelet lysates (PL) as a serum alternative in the cell culture of a number of human and animal cell lines, and human mesenchymal stem cells. PL were prepared as cell-free extracts from activated donor thrombocytes.The minimal criteria defining multipotent mesenchymal cells are (1) the capacity to adhere to plastic, (2) the expression of specific surface antigens (e.g. CD73, CD90, CD105) for undifferentiated state, and (3) the potential of the cells to differentiate into the adipogenic, chondrogenic and osteogenic lineage. In the present study, adipose-derived stem cells (ADSC) were used as cell model. ADSC were maintained under PL or FBS and then switched to the respective media to induce mesodermal differentiation. Differentiation endpoints were assessed by phase-contrast microscopy and by histochemical staining: (1) lipid droplets in adipocytes were stained by Oil red O, (2) proteoglycans in chondrogenic spheroids were detected by toluidineblue, and fine structure of spheroids was monitored by scanning electron microscopy, and (3) calcium deposits in differentiated osteoblasts were stained with silver nitrate (von Kossa staining). Adipogenic differentiation was further confirmed by quantitative real-time PCR of selected marker genes (PREF1 vs. FABP4). There were no differences between FBS- and PL-grown ADSC, indicative for retention of the differentiation potential of ADSC under animal-derived component-free culture conditions in PL-supplemented culture media. The degree of adipogenic and osteogenic differentiation was even more pronounced under PL compared to FBS
Lipid Levels and Associated Cardiovascular Risk Factors in Moroccan Type 2 Diabetes: A Case Control Study (EPIDIAM Study)
No full textBackground: The management of diabetic dyslipidaemia, a well-recognized and modifiable risk factor, is a key element in the multifactorial approach to prevent cardiovascular diseases (CVD) in individuals with type 2 diabetes (T2DM).Objective: The aim of this study is to describe lipids profile and to compare CVD risk factors in Moroccan individuals with and without T2DM.Subjects and Methods: The study population consisted of 1307 unrelated T2D and 984 non-diabetics subjects. This was a case control study carried out in urban and rural primary health care centers. The survey was conducted from January 2006 to July 2008.Results: This case control study performed in a group of type 2 diabetic patients (1307) and non-diabetic (984) adults’ shows that T2D is strongly and independently associated with CVD risk factors, which are, hypertension (OR 4.06, 95% CI: 3.35-4.93, p <0.001), elevated TGs (OR 1.77, CI: 1.45-2.18, p <0.001), central obesity (OR 1.67, CI: 1.30-2.16, p <0.001), been female (OR 0.79, CI: 0.64-0.97, p =0.022), and been older-age (p =0.001). Strong prevalence of CVD risk factors has also shown among non-diabetics.Conclusion: The present study has found a high prevalence of CVD risk factors among T2D patients and controls despite the significant difference between them
The Glucose Metabolism in Metabolic Syndrome Patients with Non-Alcoholic Fatty Liver Disease
No full textAim: To explore the association between NAFLD and MetS, and to clarify the difference of glucose metabolism between MetS with and without NAFLD.Methods: In this paper, we explore the association between NAFLD and MetS from the viewpoint of clinical characters and discuss the difference of abnormal glucose metabolism in the etiology of NAFLD and MetS, which based on metabolic profiling of urinary carbohydrates using gas chromatography/mass spectrometry (GC/MS) and multivariate statistical analysis with Model Population Analysis (MPA) based Support Vector Machines (SVMs).Results: The BMI, waist circumference, hip circumference, WHR and diastolic blood pressure in MetS patients with NAFLD were significantly higher than patients without NAFLD (P<0.001 or P<0.05). The incorporative obese and hyperlipidemia were significantly higher in MetS patients with NAFLD compared with those without NAFLD (P<0.001 and P<0.05). The biochemical analysis indicated that triglyceride and glycated hemoglobin were significantly higher in MetS patients with NAFLD (P<0.05). Other significant differences were not found in fasting glucose, post-load glucose, HDL-C, ALT and VLDL-C between the two groups (P>0.05). Consequently, two potential biomarkers, Glucose and Inositol A, were discovered in the two groups using MPA/SVM and kruskal-Wallis test.Conclusion: This research shows the incidence of abdominal obese and hyperlipidemia to be significantly higher in MetS patients with NAFLD than that observed in those without NAFLD. Moreover, the higher glycated hemoglobin in MetS patients with NAFLD suggests the poorer abnormal glucose metabolism. Furthermore, according the GC/MS combined with MPA/SVM, the two groups could be separated apparently from the glucose data, and two differential metabolites including Glucose and Inositol A are found
The Dual Effect of Folic Acid Supplementation in Preventing Colorectal Carcinomas
No full textFolic acid, a water-soluble B vitamin contained in vegetables, is essential for maintaining DNA stability through donating one-carbon-unit for cellular metabolism. So it plays an important role in DNA synthesis and replication. Early research suggested that folic acid could reduce the risk of colorectal cancer, but recent studies have questioned about this.Folic acid plays dual roles in the chemoprevention of colorectal cancer. Both the hopes for rapid cancer prevention and the fears about rapidly increased cancer risk from folic acid supplementation were not confirmed by folic acid supplementation. Folate deficiency may induce both gene-specific DNA hypermethylation and global DNA hypomethylation by its DNA-damaging effect. Meanwhile, the effect of folic acid in the development of colorectal cancer has a time-and dose-dependent pattern. Therefore, folate concentrations determined in duodenum or sigmoid colon epithelia are recommended so that a rational regimen could be made individually. We discussed the relationships between the effects of folic acid supplementation and colorectal cancer chemoprevention in the present review. The pros and cons of folic acid supplementation in tumor chemoprevention are still vague and need more efforts in the future
A Facile Microwave Assisted Synthesis, Characterization and Antibacterial Activity of 5-Phenyl-1,3,4-Oxadiazole Derivatives for Chemotherapeutic Use
No full textThis paper deals with an efficient synthesis of some 2-amino-5-substituted phenyl-1,3,4-oxadiazoles by using both conventional and microwave methods for chemotherapeutic use. The obtained results confirmed that, microwave assisted technique is efficient, eco-friendly, and inexpensive method which not only gives higher yield but also reduces the reaction time significantly. The structural elucidation of the prepared compounds was carried out by the aid of IR, 1H NMR, UV-Vis and mass spectral analyses. Compounds Sa-Sf showed antimicrobial activities against Escherichia coli, Serratia marcescens, Salmonella enterica and Proteus vulgaris (Gram-negative bacteria) and Bacillus subtilis and Staphylococcus aureus(Gram-positive bacteria) at low concentrations (10–1000 µg/mL).Â
Buruli Ulcer: A Review
No full textBuruli ulcer (BU) is a severe necrotizing infection of skin and soft tissues caused by the fresh-water mycobacterium, Mycobacterium ulcerans. While it is rarely fatal, it can profoundly debilitate those it affects, resulting in extreme individual morbidity, as well as a profound financial, emotional and social burden for the families and communities affected. This review of Buruli ulcer details the history, pathogenesis, diagnosis and management of this neglected tropical disease
Feasibility of Living Related Liver Transplantation for Children with Biliary Atresia in Egypt: Single Institution Study
No full textBackground/Aims: Biliary atresia (BA) has become the most common indication for liver transplantation among pediatric recipients. The aim is to characterize the outcome and feasibility of living related liver transplantation for children with biliary atresia in Egypt; a single institutional study.Patients and Methods: We retrospectively reviewed our records in the National Liver Institute (NLI) – Hospital, Menofiya University, starting from April 2003 to the end of August 2011. There were an 11 cases were transplanted for biliary atresia. All the patients received Lt. Lateral grafts. The mean graft volume was 248±88 gm and Graft Recipient Weight Ratio (GRWR) was 2.56±0.82.Results: At the end of this study 5 patients are alive. The mean Survival Duration was 31.04±28.1 months, early mortality was reported in 3 patients.Conclusion: Our results confirmed the effectiveness of LDLT for the treatment of children with biliary atresia with failed Kasai procedures. Living related liver grafts represented an excellent organ supply for these patients