In Manitoba, Canada, the overall incidence of Severe Combined Immunodeficiency (SCID) is three-fold higher than the national average, with SCID overrepresented in two population groups: Mennonites and First Nations of Northern Cree ancestries. T-cell receptor excision circle (TREC) assay is being used increasingly for neonatal screening for SCID in North America. However, the majority of SCID p...

We develop the algebraic theory of toric dynamical systems. These dynamical systems have the property that both their steady state loci and their moduli spaces are toric varieties. In the context of mass-action kinetics in chemistry, they are precisely the reaction networks that admit a complex balancing state. This steady state is unique within each invariant polyhedron. Toric dynamical system...

abstractbackground: this study aimed to present a rare case of neu-laxova syndrome (nls) and review the newly revealed genetic features of the disease in hopes to find a way for early interventions.case report: female newborn with nls was born at 30 weeks of gestation to consanguineous parents. the last prenatal ultrasound imaging revealed severe intrauterine growth restriction and microcephaly...

in a survey carried out to establish the incidence of erythrocyte glucose­ 6-phosphate-dehydrogenase deficiency, 738 professional blood donors of tehran were examined. the fluorescent spot technique was used for screening and qualitative determination of g-6-pd in erythrocytes. this technique was compared with other methods of g-6-pd enzyme assay and proved to be very reliable. qualitative enzy...

trichuriasis is an intestinal parasitic disease which is caused by trichuris trichiura, a soil transmitted helminth. in order to evaluate the iron status of trichuriasis in patients a total of 120 (49 males and 71 females) cases with trichuris trichiura as well as 54 healthy individuals were evaluated. blood samples were analyzed for serum iron, transferrin saturation percent, haemoglobin and o...

the primary immunodeficiency (pi) disorders are abnormalities in development and maturation of the immune system. individuals with pi disease may experience frequent infections, which limit their abilities to exhibit physical and psychological well-being secondary to their illness. in this survey we compared health-related quality of life of primary immune deficient patients with healthy childr...

Executive dysfunction is a deficiency in skills of planning and problem solving that characterizes many neuropsychiatric disorders. The Towers Task is a commonly used measure of planning and problem solving for assessing executive function. Towers Task data are usually zero-inflated and right-censored, and ignoring these features can result in biased inference for the disease characterization o...

The deficiency distance between a multinomial and a multivariate normal experiment is bounded under a condition that the parameters are bounded away from zero. This result can be used as a key step in establishing asymptotic normal approximations to nonparametric density estimation experiments. The bound relies on the recursive construction of explicit Markov kernels that can be used to reprodu...

In this contribution the problem relating dynamic behavior and parameter values for weakly reversible chemical reaction networks (CRNs) that obey the mass action law is revisited. The approach is founded on previous methods and results discussed in [15, 16] for weakly reversible CRNs. Two new research directions are however undertaken in this study, one of them exploits an alternative factoriza...