Gene analysis and carrier detection of Duchenne muscle dystrophy in Egyptian families

Duchenne and Becker muscular dystrophy [D/BMD] are X-linked recessive disorders resulting from mutations in the DMD gene. Since there is no cure or effective treatment for progressive muscular dystrophy, prevention of the disease is important and strongly depends on carrier status in-formation. Two-thirds of DMD/BMD cases are familial, thus female relatives are candidates for carrier-risk assessment. Segregation analysis of polymorphic short tandem [CA]n repeats [STR-[CA]n] was used to establish and compare the haplotypes of DMD patients with those of their at-risk relatives in order to determine the carrier status. However, 59 D/BMD index families and 35 of their at-risk female relatives were analyzed using the ion-pair reversed phase high performance liquid chromatography [IP-RP-HPLC] method. Comparison between the results of CPK of the carriers and linkage analysis revealed that values higher than the normal level were compatible in 100% of the cases with the carrier status. On the other hand, normal values do not distinguish between the healthy and carrier populations. In conclusion, the unlabeled IP-RP-HPLC-STR assay represents an excellent molecular tool for carrier-status identification and consequently the genetic counseling for the early prevention of such diseases

Effects of bacterial endotoxin on some metabolites and enzymes in rat serum

The effects of bacterial endotoxins [Escherichia coli, Klebsiella pneumoniae, and Salmonella typhimurium] on glucose and blood urea nitrogen [BUN] levels and aspartate aminotransferase [ASAT], alanine aminotransferase [ALAT] and lactate dehydrogenase [LDH] activities were studied. Three groups of rats were injected [1 mg/kg body weight, i.p.] with three types of bacterial endotoxins [E. coli, K. pneumoniae and S. typhimurium] as a single dose. The control group was injected i.p. [1 mg/kg] in 0.9% normal saline. Blood sampling was performed from the orbital vein plexus after 24 and 72 hr of injection. Glucose level was increased significantly after 24 hr of after each 3 solutions of endotoxin. Its level showed non-significant decrease after 72 hr post-treatment. However, endotoxins caused significant increases in BUN, ASAT and LDH at 24 and 72 hr post-treatment. On the other hand, the ALAT activity was significantly decreased after the referred observation periods of endotoxins injection. The variation in serum glucose level after 24 and 72 hr post-treatment may be referred to different reasons. On the other hand, the increase of BUN concentration may be due to the toxic effect of bacterial endotoxins resembling to that occurring in renal damage and impairment of renal function. However, the changes in serum aminotransferases and LDH activities may be due to endotoxins induced hepatic microcirculatory disturbance and to the subsequent liver injury and tissue hypoxia

Comprehensive rapid identification of female carriers of DMD/BMD by ion-pair reversed-phase high performance liquid chromatography

The unlabeled ion-pair reversed-phase high performance liquid chromatography [IP-RP-HPLC] was used in this study to develop a simple and rapid method for rapid identification of female carriers of the dystrophin gene. DNA molecular size markers were efficiently used to type the 2-bp short tandem repeat [STR]. In an Egyptian sample of 98 chromosomes, the most common alleles within the DMD gene were 200, 176, 245 and 243 bp due to STR44, 45, 49, and 50 markers, respectively. The true heterozygosity values of these markers ranged from 73.5 to 90.9% and observed allele numbers ranged from 8 to 17 in 98 chromosomes, revealing high polymorphism of the four [CA]n system of the DMD gene

Serological status of mumps in non-immunized Egyptian infants

The present study was conducted on 2114 infants divided into different age groups ranging from 6-18 months. All studied infants were subjected to full history taking, thorough clinical examination and laboratory investigation for semiquantitative measurement of mumps IgG by ELISA technique. The study revealed that maternally acquired mumps seropositivity wanes out gradually reaching its nadir level at the age of 12-13 months. Therefore, infants in this age period have a greater risk to develop mumps infection with either higher morbidity or mortality. Hence, the study recommended that MMR vaccination should be adopted at 12-13 months of age in the expanded program of immunization in Egypt as being the time of waning out of passively acquired mumps IgG

Role of macrophage inflammatory protein-1 alpha in wheezy infants

To identify the role of macrophage inflammatory protein-1alpha [MIP-lalpha], a member of CC-chemokine subfamily, in the pathogenesis of bronchial hyper-reactivity, peri-bronchial cell infiltration and airway obstruction in bronchial asthma and acute viral bronchiolitis and to correlate its level with the severity of the disease process. 15 asthmatic children and 15 children with acute viral bronchiolitis compared to 15 normal children with matched age and sex. Measurement of plasma MIP-lalpha level by ELISA and Quantitative estimation of total serum IgE by I MX Microparticle Enzyme Immunoassay. The mean plasma MIP-l alpha was significantly higher in asthmatic and acute bronchiolitis cases [93.4 +/- 46.3 pg/mL and 80.7 +/- 34.49 pg/mL, respectively] than in the controls [15.71 +/- 3.3 pg/mL], p value < 0.01. Mean while, MIP-lalpha level showed significant elevation with advanced severity of asthma where it was 64.0 +/- 20.07 pg/mL, 90.86 +/- 30.35 pg/mL and 157.33 +/- 54.55 pg/mL in the intermittent, mild persistent and moderate persistent subgroups. In addition, when the sample member was classified according to the seventy of the attack, MIP-la level was significantly higher in the severe attack [132.7 +/- 48.5 4 pg/mL] than in moderate [72.14 +/- 18.55 pg/mL] and mild attacks [50.0 +/- 4.24 pg/mL], p value < 0.01.In cases of acute bronchiolitis, the mean plasma MIP-lalpha showed positive correlation with the grade of respiratory distress where it was 49.0 +/- 5.70 pg/mL, 83.67 +/- 4.80 pg/mL and 116.0 +/- 46.01 pg/mL in mild, moderate and severe cases, respectively, p value < 0.01. Mean plasma IgE level in asthmatics [195.24 +/- 191.53 IU/mL] was also significantly elevated compared to the controls [12.20 +/- 10.56 IU/mL]. Within the asthmatic group, the mean plasma IgE level correlates positively with the degree of severity of the asthmatic attack. Plasma MIP-lalpha participates in creation of bronchial hyper-reactivity, airway inflammation and obstruction in wheezy infants during asthmatic and acute bronchiolitis attacks. Inhibition of such chemokine effects might be beneficial for designing new therapeutic strategies directed at immunomodulation of bronchial asthma and respiratory syncytial viral bronchiolitis