conclusions congenital hyperinsulinism can have different inheritance pattern. autosomal recessive inheritance is more common but less frequently autosomal dominant inheritance can be seen. it appears that mutations in abcc8 gene can show both autosomal recessive and autosomal dominant inheritance of the disease. pcr followed by sanger sequencing proved to be an efficient method for mutation de...

In this paper the results of an empirical investigation into the relationship between software understandability and features of object oriented software are described Five C Systems of varying sizes were analysed and data relating to understandability in heritance coupling and other class features collected for each A number of hypotheses were then investigated to identify relation ships betwe...

This study tested mechanisms proposed for maternal uniparental mitochondrial inheritance in Neurospora: (1) exclusion of conidial mitochondria by the specialized female reproductive structure, trichogyne, due to mating locus heterokaryon incompatibility and (2) mitochondrial input bias favoring the larger trichogyne over the smaller conidium. These mechanisms were tested by determining the mode...

Age-based inheritance of centrosomes in eukaryotic cells is associated with faithful chromosome distribution in asymmetric cell divisions. During Saccharomyces cerevisiae ascospore formation, such an inheritance mechanism targets the yeast centrosome equivalents, the spindle pole bodies (SPBs) at meiosis II onset. Decreased nutrient availability causes initiation of spore formation at only the ...

ankyloglossia (tongue-tie) is a congenital anomaly with a prevalence of 4-5% and characterized by an abnormally short lingual frenulum. for unknown reasons the abnormality seems to be more common in males. the pathogenesis of ankyloglossia is not known. the authors report a family with isolated ankyloglossia inherited as an autosomal dominant or recessive trait. the identification of the defect...

BACKGROUND To our knowledge, no study has assessed the validity of family history data provided by probands with adult-onset dystonia. OBJECTIVE To measure the sensitivity and specificity of interviewing patients with primary adult-onset dystonia as a method for obtaining information on dystonia in first-degree relatives. PARTICIPANTS Seventy probands with primary adult-onset dystonia were ...

BACKGROUND The aim was to compare tuberculosis trends in Mexico and United States and to evaluate Mexican diagnostic methods and contact investigation. METHODS Retrospective comparative study of tuberculosis cases and incidence rates between both countries (1990-2010). Diagnostic methods and contact investigations were also evaluated for Mexico. Estimates were obtained from official websites....

Twin and family studies have shown that most traits are at least moderately heritable. But what are the implications of finding genetic influence for the design of intervention and prevention programs? For complex traits, heritability does not mean immutability, and research has shown that genetic influences can change with age, context, and in response to behavioral and drug interventions. The...