ABSTRACT
Type I insulin-dependent diabetes mellitus [IDDM] is an autoimmune disease. Onset of the disease is attributed to interplay between genetic and environmental risk factors. It is strongly associated with the presence of arginine in position 52 of DQ alpha [alpha] chain and the absence of aspartic acid in position 57 of the DQ beta [alpha] chain. In this study we assessed the relative contribution of DQ alpha and DQ alpha chains to susceptibility to type I diabetes among the Egyptian patients. We identified those genetically at risk of development among their siblings in order to detect early development of autoantibodies allowing early application of preventive programs. Genomic DNA of forty Egyptian type I IDDM patients, 13 non diabetic siblings and 22 non diabetic controls were amplified using polymerase chain reactionamplification refractory mutation system [ARMS] and genotyped for HLA-DQA and DQB alleles. A significant high frequency of homozygous genotype for DQB1 non- Asp allele was detected in patients 50%, p=0.01, odd ratio [OR] =10 at 95% confidence interval [CI] =2.1-48.6 with susceptible results to the disease. The frequency of diabetogenic heterodimer Arg/non-Asp was significantly high in patients [82%, p=0.044, OR= 3.26, at 95% CI= 1.005-10.6]. On the other hand, a significant lower frequency of homozygous genotype for DQB1 Asp allele was detected in patients 12.5%, p=0.065; it was associated with protection from the disease. In conclusion, in Egyptian patients susceptibility and protection from type I diabetes is mainly associated with the DQ alpha chain. Siblings have potential risk to the disease. Non affected siblings should be targeted in a larger study for counselling. At risk individuals should be subjected to regular monitoring for the early development of autoantibodies which start years before the overt diabetes.
Subject(s)
Humans , Male , Female , HLA-DQ Antigens , Alleles , Polymerase Chain Reaction , Genotype , Gene FrequencyABSTRACT
To detect a specific and sensitive marker of bone turnover, this study was conducted on 60 healthy volunteer men classified according to age into three groups: The first group included 20 men in their third decade [with age range of 21-30 years], the second group included 20 men in their fifth decade [with age range of 41-50] and an elderly group included 20 men [age above 60 years]. Blood samples were collected after an overnight fast and serum was separated and kept frozen at -20C until analyzed for bone sialoprotein [BSP], osteocalcin, intact parathyroid hormone [PTH] and calcitonin by radioimmunoassay techniques. Serum BSP may be used as a novel sensitive and specific biochemical marker of bone turnover that may be used alone or in conjunction with osteocalcin in the routine investigations of the elderly for early prediction and follow up of senile osteoporosis
Subject(s)
Biomarkers , Osteocalcin , Sialoglycoproteins , Calcitonin , AgedABSTRACT
A[1] Antitrypsin, a major a[1]- globulin protease, is measured in cord [fetal] blood, amniotic fluid and maternal blood in 26 F.T. infants [15 AG A, 11 SG A] as well as in 7 preterm deliveries. 11 other non-pregnant females acted as control for maternal blood. A[1]-AT level in pregnant females was found to be higher than in the non-pregnants, and in those giving birth to full term than to preterm babies Cord blood a,-AT was found to correlate well with birth weight as well as with gestational age. Amniotic fluid a[1]-AT was lower in preterm and SGA groups compared to F.T. infants. The relation between a[1]-AT level and development of respiratory distress syndrome was discussed and the follow-up of babies with low levels was recommended