ABSTRACT
Excess iron deposition in patients with beta thalassemia major (BTM) causes excess free radical formation, damages the hypothalamic pituitary testicular axis and production of sperms with DNA defects. As antioxidants were reported to improve fertility in healthy males; their effectiveness to improve sperm DNA defects in adult males with BTM was studied. Twenty fully pubertal BTM patients were included consecutively, all had semen analysis; 10 were found to be azoospermic, so further analysis for sperms and DNA defects was conducted on the remaining 10 participants. Semen was analyzed for antioxidants in seminal plasma and sperms for defects including the DNA fragmentation index, sperm deformity index, teratozospermia index and acrosomal index. Participants were then given L-carnitine and N-acetylcysteine for 6 months. All semen parameters were reassessed after treatment. The sperm deformity index and teratozospermia index increased significantly after treatment from 1.90±0.33 to 2.46±0.61 and from 1.59±0.22 to 1.86±0.28 respectively. So, apparently antioxidants accentuated sperm deformities in men with BTM. Therefore, the results of this study are not in favour with the use of antioxidants in BTM patients for improving potential fertility. Larger studies, however, are needed to confirm these preliminary results.
Subject(s)
Antioxidants/pharmacology , DNA Damage , Spermatozoa/pathology , beta-Thalassemia/complications , Acetylcysteine/pharmacology , Adult , Carnitine/pharmacology , DNA Fragmentation , Humans , Male , Pilot Projects , Spermatozoa/abnormalities , Spermatozoa/drug effects , Teratozoospermia/pathologyABSTRACT
BACKGROUND: The prevalence of vitamin D (vitD) deficiency presenting as rickets is increasing worldwide. Insufficient sun exposure, vitD administration, and/or calcium intake are the main causes. However, vitD system-related genes may also have a role. METHODS: Prospective study: 109 rachitic children completed a 6-mo study period or until rachitic manifestations disappeared. Thirty children were selected as controls. Clinical and biochemical data were evaluated at baseline in patients and controls and biochemistry re-evaluated at radiological healing. Therapy was stratified in three different protocols. Fifty-four single-nucleotide polymorphisms (SNPs) of five vitD system genes (VDR, CP2R1, CYP27B1, CYP24A1, and GC) were genotyped and their association with clinical and biochemcial data was analyzed. RESULTS: Therapy response was similar in terms of radiological healing although it was not so in terms of biochemical normalization. Only VDR gene (promoter, start-codon, and intronic genotypes) was rickets-associated in terms of serum 25-OH-D, calcium, radiological severity and time needed to heal. Eight patients with sufficient calcium intake and 25-OH-D levels carried a VDR genotype lacking minor allele homozygous genotypes at SNPs spread along the gene. CONCLUSION: Although patients presented epidemiologic factors strongly contributing to rickets, genetic modulation affecting predisposition, severity, and clinical course is exerted, at least in part, by VDR gene polymorphic variation.
Subject(s)
Calcium/blood , Child Nutrition Disorders/genetics , Rickets/diagnosis , Rickets/genetics , Vitamin D Deficiency/genetics , Vitamin D/blood , 25-Hydroxyvitamin D3 1-alpha-Hydroxylase/genetics , Alleles , Case-Control Studies , Child Nutrition Sciences , Child, Preschool , Cholestanetriol 26-Monooxygenase/genetics , Cytochrome P450 Family 2/genetics , Female , Genotype , Homozygote , Humans , Infant , Male , Polymorphism, Single Nucleotide , Prospective Studies , Receptors, Calcitriol/genetics , Vitamin D-Binding Protein/genetics , Vitamin D3 24-Hydroxylase/geneticsABSTRACT
BACKGROUND: Excessive use of fructose has been incriminated as a risk factor for hepatic steatosis. Procollagen type III N-terminal peptide (P3NP) is a marker for steatohepatitis. Thus, we aimed to assess fructose intake in obese children and its relation to nonalcoholic fatty liver disease (NAFLD) and P3NP. METHODS: Fifty-five obese children were compared to 30 controls. All were subjected to dietary fructose and anthropometric assessment, fasting blood sugar (FBS), fasting insulin (FI) and homeostasis model assessment of insulin resistance (HOMA-IR), lipid profile, uric acid, alanine aminotransferase (ALT), P3NP and abdominal ultrasound. RESULTS: Patients had higher fructose intake which was associated with increased NAFLD grade. There was an increase in P3NP with increased NAFLD grade. P3NP correlated positively with fructose intake (processed sources and total) and caloric intake. CONCLUSIONS: High fructose intake is associated with NAFLD and P3NP may serve as a marker of NAFLD in obese children with a proposed cutoff value of 8.5 ng/mL.
