Beta Thalassemia Carrier Rate: Problem Burden among High School Children.

Background & Aim of the Work: ß-Thalassemia (ßT) is highly prevalent in some countries like Egypt. Accurate data about actual disease prevalence and heavily prevalent geographic locations are essential to help in early detection and in setting up effective preventive programs. We aim for screening ßT carriers among Egyptian high school students in the Delta region. SUBJECTS AND METHODS: A cross-sectional multicenter study was carried out on 4320 randomly selected students from four governorates of the Nile Delta region, Egypt. All patients were to be tested for their complete blood count. Those with microcytic hypochromic anemia not caused by iron deficiency were tested for ßT carrier status using high-performance liquid chromatography. RESULTS: The total prevalence of ßT carrier rate was 6.13%. The highest prevalence was detected in Al-Sharkia Governorate, reaching 7.89%, followed by 6.90% in Al-Gharbia Governorate. Al- Dakahilia and Al-Menoufia showed lower rates of 4.86% and 3.73%, respectively. CONCLUSION: Despite the premarital national screening program for ßT in Egypt, the carrier rate is still high. More effort should be done into the proper implementation of national prevention programs.

Effect of Oropharyngeal Administration of Mother's Milk Prior to Gavage Feeding on Gastrin, Motilin, Secretin, and Cholecystokinin Hormones in Preterm Infants: A Pilot Crossover Study.

BACKGROUND: Oropharyngeal administration of milk prior to gavage feeding has been shown to improve feeding tolerance in preterm infants. OBJECTIVES: The aim is to study the effect of oropharyngeal administration of mother's milk (OPAMM), prior to gavage feeding, on the levels of gastrin, motilin, secretin, and cholecystokinin hormones. METHODS: Preterm infants (<32 weeks' gestation) were randomized at a corrected gestational age of 33-34 weeks, in a crossover design, to receive 1 of 2 protocols: 24 hours of OPAMM practice (applying 0.2 mL of mother's milk prior to each gavage feeding) followed by 24 hours of regular gavage-feeding practice in the first protocol or vice versa in the second protocol. The levels of gastrin, motilin, secretin, and cholecystokinin hormones were measured at the end of 24 hours of both practices. RESULTS: The data of 40 preterm infants (20 in each protocol) were analyzed. OPAMM was associated with a significant increase in the levels of motilin (median, 233; interquartile range [IQR], 196-296 vs median, 196; IQR, 128-233; P < .01), secretin (median, 401; IQR, 353-458 vs median, 370; IQR, 331-407; P = .04), and cholecystokinin (median, 21.4; IQR, 16-27.1 vs median, 14.9; IQR, 11-20.5; P <.01) but not gastrin (median, 202; IQR, 125-238 vs median, 175; IQR, 128-227; P = .7), compared with regular gavage-feeding practice. CONCLUSION: Oro-pharyngeal stimulation by OPAMM, prior to gavage feeding, significantly increased motilin hormone and possibly increased secretin and cholecystokinin hormones.

Screening for the Most Common Mutations of CFTR Gene among Egyptian Children with Difficult-to-Treat Asthma.

Cystic fibrosis (CF) is panethnic autosomal recessive disease that affects the exocrine glands of pancreas, lungs, and intestine. It is often misdiagnosed in developing countries as difficult-to-treat asthma. We enrolled 150 Egyptian families with one or more probands who were complaining of difficult-to-treat asthma, and 112 cases were studied extensively through history taking including pedigree construction and clinical examination. In addition, spirometry and computed tomography of the chest were done in selected cases. All cases were subjected to quantitative sweat chloride test and molecular screening for the three most common mutations of cystic fibrosis transconductance regulator ( CFTR ) gene ( ΔF508 , G542X , W1282X ) using amplification refractory mutation system (ARMS) technique. Probands of difficult-to-treat asthma comprised 66 males and 46 females; their age range was 1 to 14 years. Sixty-one probands (54.5%) were carriers of one or more of the studied mutations (36 cases and 25 carriers). Six carriers of single mutations had mild respiratory symptoms and negative sweat test. The most common allele was ΔF508 , 60 alleles in 56 individuals (4 were homozygous ΔF508 / ΔF508 ) followed by W1282X in 25 individuals and G542X in 12 individuals. Allele W1282X had an increased risk of recurrent chest infection and bronchiectasis. Moreover, cases with two mutations had more severe symptoms compared with those with a single mutation. CFTR mutations and CF-related syndromes are not rare as thought in Egypt, especially among the high-risk difficult-to-treat asthma. The readily available ARMS technique is recommended for ΔF508 and/or W1282X screening on priority basis among these children.

Molecular characterization of Staphylococcus aureus isolated from hospital acquired sepsis in pediatrics, relation to antibiotics, resistance and virulence genes.

INTRODUCTION: The objective of this study was to determine the prevalence of antibiotic resistance genes mecA, vanA, B, C and virulence genes Panton-Valentine Leucocidin (PVL) and fibronectin-binding protein (fnBPA) among S. aureus isolates from hospital-acquired sepsis from pediatric intensive care units. METHODS: The study was a retrospective cross-sectional study, including 250 unique isolates of S. aureus obtained from pediatric patients with hospital-acquired sepsis. The isolates were subjected to study of antibiotic susceptibility by disc diffusion method and molecular analysis of antibiotic resistance genes and certain virulence genes (PVL and fnBPA genes). RESULTS: Methicillin resistant S. aureus represented 178 (71%) of the isolated S. aureus and reduced susceptibility to vancomycin was detected by minimum inhibitory concentration in 39 (22%) isolates. It was found that there was a strong association between the MRSA strains and resistance to some antibiotics, devices association (p<0.001) and patient outcomes (p=0.003). There was a significant association between reduced vancomycin susceptibility (p=0.010), the presence of a central line catheter (p=0.000) and fnBPA gene (p<0.001) and mortality rate. CONCLUSIONS: The present study highlights that major S. aureus strains isolated from sepsis in pediatric patients were methicillin resistant with a substantial proportion of reduced susceptibility to vancomycin. Although none of the isolates had van genes responsible for vancomycin resistance, this finding warrants a considerable attention for study as it was a risk factor for mortality in those patients. The virulence genes fibronectin-binding protein and Panton-Valentine Leucocidin were not uncommon in S. aureus.

A novel fibrillin-1 mutation in an egyptian marfan family: A proband showing nephrotic syndrome due to focal segmental glomerulosclerosis.

Marfan syndrome (MFS), the founding member of connective tissue disorder, is an autosomal dominant disease; it is caused by a deficiency of the microfibrillar protein fibrillin-1 (FBN1) and characterized by involvement of three main systems; skeletal, ocular, and cardiovascular. More than one thousand mutations in FBN1 gene on chromosome 15 were found to cause MFS. Nephrotic syndrome (NS) had been described in very few patients with MFS being attributed to membranoproliferative glomerulonephritis secondary to infective endocarditis. Focal segmental glomerulosclerosis (FSGS) had been reported in NS in conjunction with MFS without confirming the diagnosis by mutational analysis of FBN1. We hereby present an Egyptian family with MFS documented at the molecular level; it showed a male proband with NS secondary to FSGS, unfortunately, we failed to make any causal link between FBN dysfunction and FSGS. In this context, we review the spectrum of renal involvements occurring in MFS patients.