ABSTRACT
Phenylketonuria [PKU] is an autosomal recessive genetic disorder caused by defects in the phenylalanine hydroxylase [PAH] system. Our work aimed to screen the PAH locus for the presence of potentially useful short tandem repeats [STR] as markers for carrier detection in PKU families in Egypt, and to determine the level of PAH heterozygosity within the Egyptian population. The system contains at least eight independent alleles in the Egyptian population, transmitted in a Mendelian fashion. Variations in the number of STR in the 16 families studied gave rise to polymorphisms that proved to be suitable markers for PKU carrier detection and prenatal diagnosis. The most frequent allelic fragment size in PKU patients was 246 bp [35.7%], which together with a fragment of 254 bp accounted for 60.7% of the mutant chromosomes
Subject(s)
Humans , Asian People/genetics , Case-Control Studies , White People/genetics , Gene Frequency/genetics , Genetic Testing/methods , Genetic Carrier Screening/methods , Microsatellite Repeats/genetics , Mutation/genetics , Pedigree , Phenylketonurias/diagnosis , Polymorphism, Genetic/geneticsABSTRACT
This study was conducted on 500 full-term neonates and 25 older patients with congenital hypothyroidism [CH], newly or previously diagnosed. Alphafetoprotein [AFP] was elevated in two neonates. In one, persistent elevation of AFP and thyroid stimulating hormone [TSH] with low thyroxine [T4] were found [congenital hypothyroidism]. In the other, AFP, TSH and T4 levels normalized [transient hypothyroidism]. The mean AFP level in new CH patients was significantly higher than in previously diagnosed patients, and was higher in CH patients than in controls. Significant relationships were found between AFP and T4, AFP and TSH, and AFP and age. AFP is a sensitive indicator of thyroid status and can be used as a screening test for hypothyroidism from the first day of life and in follow-up of CH patients
Subject(s)
Adolescent , Adult , Child , Female , Humans , Infant , Male , Child, Preschool , Hypothyroidism/diagnosis , Infant, Newborn , Neonatal Screening/methods , Thyroid Function Tests , Thyroxine/blood , alpha-Fetoproteins/metabolismABSTRACT
This study was carried out with 33 spinal muscular atrophy [SMA] patients. DNA molecular studies of the SMA gene on the long arm of chromosome 5 [5q11.2q13.3] revealed homozygous deletion of exon 7 in 55% of cases, 36% of whom also had a homozygous delition of exon 8. The adult patients were heterozygous for an abnormal size exon 8. The remaining patients had either compound heterozygote deletion of exons 7 and 8 or were normal for both. There may therefore be 5q-unlinked SMA or SMA due to other mutations. Detection of deletions of SMA exons 7 and 8 is a powerful diagnostic test in patients with SMA, but other mutations among Egyptians must also be sought
Subject(s)
Adult , Child , Female , Humans , Infant , Male , Age of Onset , Case-Control Studies , Chromosomes, Human, Pair 5/genetics , DNA Mutational Analysis/methods , Disease Progression , Gene Deletion , Heterozygote , Homozygote , PhenotypeABSTRACT
Cardiac and ocular manifestations were evaluated in 21 patients clinically suspected of mucopolysaccharidosis. After electrophoresis analysis of urinary glycoaminoglycans, 3 patients were excluded because their results did not correlate with any known type of mucopolysaccharidosis. Echocardiography revealed abnormal findings in 11 patients [61.1%]. The mitral valve was the most commonly affected valve; 7 patients [38.9%] had thickened mitral valve and 6 had mitral regurge. Corneal opacities were found in 3 patients [16.7%] and progressive increase in intraocular pressure in 1 patient [5.6%], while fundus examination showed early optic atrophy in 1 patient [5.6%] and bilateral papilloedema in 2 patients [11.1%]
Subject(s)
Adolescent , Child , Female , Humans , Male , Case-Control Studies , Child, Preschool , Coloring Agents , Corneal Opacity/etiology , Echocardiography, Doppler, Color , Electrophoresis/standards , Mitral Valve Insufficiency/etiology , Mitral Valve Stenosis/etiology , Ocular Hypertension/etiology , Optic Atrophy/etiology , Papilledema/etiologyABSTRACT
The material comprised 20 children suffering from mumps and 10 healthy children who served as the control group in addition to thorough clinical examination, determination of serum and salivary IgA levels were done These tests were done during the 1st or 2nd day of appearance of the swelling and 2-4 weeks later One patient was tested after 9 months. The highest levels of serum IgA could be detected in the early stages of clinical disease then it gradually decreased, but we can detect high levels up to 9 months. Mumps infection caused decreased production of S. IgA in the early stages of clinical disease. High levels of S IgA could be detected 2-4 weeks later then these levels decreased gradually. Following exposure to mumps virus, there is replication of the virus in the mucosa of the portal of entery. Which will stimulate the production of S IgA after a short period of depression This is followed by a stage of viraemia which Stimulates increased production of serum immunoglobulins including IgA which prevents replication of the virus In peripheral tissues. S IgA establishes immunity by preventing colonization of mucous menbrane and in this case immunity is not associated with the carrier state