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

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

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

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

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

Generating datasets for the project portfolio selection and scheduling problem

The article presents two variants of the project portfolio selection and scheduling problem (PPSSP). The primary objective of the PPSSP is to maximise the total portfolio value through the selection and scheduling of a subset of projects subject to various operational constraints. This article describes two recently-proposed, generalised models of the PPSSP [1,2] and proposes a set of synthetically generated problem instances for each. These datasets can be used by researchers to compare the performance of heuristic and meta-heuristic solution strategies. In addition, the Python program used to generate the problem instances is supplied, allowing researchers to generate new problem instances

Solving a novel multi-divisional project portfolio selection and scheduling problem

A common problem faced by organizations is how to select and schedule an optimal portfolio of projects subject to various constraints, such as a limited budget. This problem is known as the project portfolio selection and scheduling problem (PPSSP). Despite the widespread nature of this problem, no existing model adequately addresses a sufficient set of characteristics that arise in real-world problems. One contribution of this article is the proposal of a novel, practical class of PPSSP that consists of multiple groups of projects, proposed by different sections of a major organization. The proposed problem can be considered as a generalized PPSSP given that many specific PPSSPs reported in the literature can be generated by relaxing certain constraints. As this is a novel formulation, existing algorithms cannot ensure high-quality solutions to this problem. Thus, a further contribution of this article is the design of three hybrid meta-heuristic algorithms based on a custom-purpose heuristic and local search operator. A case problem, inspired by future force design (FFD) in the Australian Defence Force (ADF), is presented to exemplify the applicability of this model to a real-world problem. Results indicate that the obtained solutions are of acceptable quality for implementation

Maternal risk factors in young Egyptian mothers of Down syndrome

Introduction: We investigated the possible maternal risk factors that mayincrease the incidence of Down syndrome (DS) in young Egyptian mothers(younger than 35 years) especially methylene tetrahydrofolate reductase(MTHFR) enzyme C677T polymorphism.Subjects and Methods: The study included 200 mothers of karyotypicallyascertained non-disjunction DS attending Genetics clinic, Children’s hospital, Ain Shams University (100 mothers were < 35 years and 100 mothers ≥ 35 years). 50 mothers of none-DS children served as a control group. For all cases, history was taken laying stress on: Parental ages at conception, maternal grandparent’s ages at conception of mother, DS birth order, history of oral contraceptive use 6 months before conception, genital infection, vitamin supplementation and smoking or exposure to irradiation.Results: MTHFR C677T mutational analysis was done to twenty DS motherswith ages ≤ 35 years revealed that 35% of young mothers had C677T mutation (10% had homozygous mutation and 25% had heterozygous mutation). MTHFR C677T polymorphism was found to be a possible maternal genetic risk factor for DS although statistically non-significant.Other maternal risk factors included the use of oral contraceptive pills (OCP) 6 months before pregnancy which was significantly higher only in DSmothers ≥ 35 years. on the other hand, parental consanguinity, maternal grandparents’ ages, the presence of genital infection and birth order did not show a significant difference between young and old mothers of DS.Conclusion: MTHFR C677T could not be considered as a maternal risk factor in young Egyptian mothers of DS. The risk effect may depend on gene-environment interaction between the genotype and dietary intake in particular folic acid consumption which should be further studied on a larger scale population including other MTHFR polymorphisms and environmental factors. Other risk factors may include the use of OCP in older mothers. Parents consanguinity, paternal age and maternal grandparents’ ages were not found to be risk factors in DS in this study.Keywords: Down syndrome, risk factors, mothers, MTHFR