Editorial: The blessing effect of an extra copy of chromosome 21

No Abstrac

Colchicine resistant FMF is not always true resistance

Crohn’s disease and familial Mediterranean fever are both inflammatory diseases characterized by similar clinical manifestations. The concurrence of the two diseases may pose a challenge to diagnosis and treatment. In this report, we present a child with familial Mediterranean fever and undiagnosed Crohn’s disease which made him apparently resistant to colchicine therapy.Symptoms of Crohn’s disease were masked by the resistant fever of FMF. Amelioration of symptoms of both diseases was achieved when treatment of both diseases were gradually introduced. Searching of IBD in children with colchicines resistant FMF is mandatory, as both diseases have similar symptoms and responsible genes may modify one another

Connexin 26 (GJB2) mutation in KID syndrome: An Egyptian patient

Keratitis ± ichthyosis ± deafness (KID) syndrome is a rare disorder characterized by the occurrence of localized erythematous scaly skin lesions, severe bilateral keratitis, and sensorineural deafness. Other ocular manifestations include corneal epithelial defects and scarring, whichcause progressive decline of visual acuity and may eventually lead to blindness. To our knowledge, few cases have been reported worldwide and none were reported from the Middle East Arab countries. Here we report the first Egyptian patient with this syndrome

Therapeutic approaches to genetic disorders

Although prevention is the ideal goal for genetic disorders, various types oftherapeutic management are available. Such management approaches depend on the nature of the defect, how well it is understood at the genetic and biochemical levels and the practical feasibility of correction. In some conditions certain management is now tailored to the specific genotype. The patient being treated may be the fetus, the infant, the child or the adult. Treatment methods used in genetic disorders may involve surgical, cognitive/behavioral, pharmacologic, dietary, envairomental avoidance, transfusion, plasma exchange, enzyme, behavioral, cell, or gene therapy. Some have been developed on the basis of knowledge of the defect in the gene and its product, whereas others are empirical or aimed at controlling or mediating signs and symptoms without care.Keywords: Stem cell therapy, gene therapy, fetal therapy, PKU embryopathy, chaperons

Triple A syndrome presenting with myopathy: An Egyptian patient

Triple A syndrome (Allgrove syndrome) is a rare, autosomal recessive disorder characterized by Adrenocorticotropic hormone resistant adrenal insuffi ciency, Alacrmia, Achalasia of the oesophageal cardia, progressive neurological degeneration and occasionally autonomic instability (making it 4A syndrome). Reported neurological abnormalities included developmental delay, ataxia and polyneuropathy with sensory, motor and autonomic components, long-tract degeneration, parkinsonism and mild dementia.In this paper we report a 13 year old boy with Allgrove syndrome presentingwith muscular weakness that was confi rmed by EMG studies. To our knowledge, muscle disease in Allogrove syndrome was not reported before.Keywords: Allgrove syndrome, triple A syndrome, alacrmia, cardiac achalasia, adrenal insufficiency

Familial Peters Plus syndrome with absent anal canal, sacral agenesis and sensorineural hearing loss: Expanding the clinical spectrum

Abstract Peters anomaly is a rare form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs involving the central or entire cornea. It may be associated with other ocular or systemic abnormalities. Peters Plus syndrome, also known as Krause–Kivlin syndrome, characterized by additional anomalies including short stature with developmental delay, facial dysmorphism, genitourinary abnormalities; syndactyly; brachycephaly; and cardiac, neural, and hearing abnormalities. Here we report an 8 month old boy with typical features of Peters Plus syndrome including eye anomalies, dysmorphic features, global developmental delay, growth retardation, bilateral talipes equinovarus, complex renal anomalies, absent anal canal, sacral agenesis and sensorineural hearing loss. To our knowledge, the last three features were not reported beforeKeywords: Peters anomaly; Corneal opacity; Absent anal canal; Deafnes

Oral-facial-digital syndrome type II: Transitional type between Mohr and Varadi

We report a 2 months old boy, the first in order of birth of  non-consanguineous parents, with several typical features of oral-facial-digital syndrome type II (OFDS II) including cleft lip, high arched palate,  retromicrognathia, preaxial polysyndactyly of hands and feet, duplication ofthumb and hallux. Interestingly, the patient also had mesoaxial polydactyly of the left hand with extra metacarpal bones characteristic of OFDS. VI, however mentality and MRI brain were normal. This unusual association may suggest an additional subgroup of OFDSs or a variant of OFDS II due to variable gene expression or a transitional type between OFDS II and OFDS VI

Consanguineous matings among Egyptian population

Consanguinity is the blood relationship that exists among individuals that descend from a common ancestor. The objectives of the study was to explore the frequency and socio-economic determinants of consanguinity in Egypt. The study was carried out using a cross-sectional approach which included 10,000 unselected couples. All couples were recruited from the prenatal, gynecologic, neonatal and pediatric clinics as well as vaccination centers in three hospitals one in Lower Egypt (Cairo) and two in Upper Egypt (Sohag and Assuit). Consanguineous marriage is still high in Egypt (35.3%), especially among first cousins (86%). However the frequency varies by region. It is higher in Sohag (42.2%) and Cairo (36.1%) than in Assuit (21.7%). Also it was higher in rural areas (59.9%) than in semi-urban and urban areas (23.5% and 17.7%, respectively). It was associated with decreased age of marriage, low educational level and unemployment in the couples which means that the socio-economic determinants are still working in maintaining this high rate of consanguinity. This is in addition to the high divorce rate and increased number of unmarried females in Egypt. Advances in genetics have led to a deeper understanding of the effect of inbreeding on the occurrence of genetic diseases. As prolonged parental inbreeding has led to a background of homozygosity above that predicted by simple models of consanguinity, we encourage counselors to call on a reliable computer program for calculation of the recurrence risks in these families. Keywords: Consanguineous marriage; Socio-economic; determinants; Recurrence risk; Egyp

MURCS association: a case report

MURCS association is a rare developmental disorder that affects females. The acronym MURCS stands for Mullerian, Renal, Cervicothoracic Somite abnormalities. It appears to occur randomly (Sporadic) with a frequency of 1 in 50.000 females. In this paper, we present a two-year-old girl with typical features of this syndrome in association with right deviation of anorectal canal, subglottic stenosis and unilateral oblique inguinal hernia.. Keywords: MURCS, congenital torticolis, anorectal- canal, abnormalities. Egypt. J. Hum. Genet Vol. 8 (2) 2007: pp. 219-22

Zoosporulation of a new Perkinsus species isolated from the gills of the softshell clam Mya arenaria

A gill-associated Perkinsus sp. isolated from the softshell clam (Myo arenaria) is described as a new species, P. chesapeaki sp. nov. Examination of the parasite in seawater cultures revealed life cycle stages and zoosporulation processes similar to those described for other species of the genus Perkinsus. Prezoosporangia developed thickened cell walls upon contraction of the cytoplasm and development of a distinctive clear area between the cell wall and the protoplast. Successive bipartition of the protoplast led to the formation of hundred\u27s of zoospores within mature sporangia. Zoospores were released into seawater through one or more discharge tubes, Ultrastructural studies revealed an oblong zoospore possessing two flagella that arose from a concave side located in the upper third of the zoospore body. The anterior flagellum possessed a unilateral array of hair-like structures. A large anterior vacuole and basolateral nucleus dominated the cytoplasm of the zoospore body. The presence of a rudimentary apical complex including an open-sided conoid, rhoptries, micronemes, and subpellicular microtubules were also discerned. Differences in zoospore morphology, and sequence analyses of two genes previously reported, support the designation of the gill-associated Perkinsus from the softshell clam as a new species