BACKGROUND Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common form of Polycystic Kidney Disease (PKD) and occurs at a frequency of 1/800 to 1/1000 affecting all ethnic groups worldwide. ADPKD shows significant intrafamilial phenotypic variability in the rate of disease progression and extra-renal manifestations, which suggests the involvement of heritable modifier genes. He...

PURPOSE To identify the causative mutation leading to autosomal dominant macular dystrophy, cone dystrophy, and cone-rod dystrophy in a five-generation family and to explain the high intrafamilial phenotypic variation by identifying possible modifier genes. METHODS Fifteen family members were investigated by detailed ophthalmic and electrophysiologic phenotyping. Mutation screening was initia...

INTRODUCTION The objectives of this study were evaluate hepatitis B virus (HBV) serological markers in children and adolescents followed up at the Child Institute of the Hospital das Clínicas, Faculdade de Medicina de São Paulo, Universidade de São Paulo; identify chronic HBV carriers and susceptible individuals in the intrafamilial environment; characterize HBV genotypes; and identify mutation...

Sibling relationships have a substantial and lasting effect on children's development. Many siblings experience some occasional conflict, however, up to 40% are exposed to sibling bullying every week, a repeated and harmful form of intrafamilial aggression. We review evidence on the precursors, factors relating to peer bullying, and mental health consequences of sibling bullying. Parenting qual...

Autosomal dominant polycystic kidney disease (ADPKD) is a common Mendelian disorder, occurring in approximately 1 in 1000 births and accounting for 8% to 10% of cases of end-stage renal disease (ESRD). Mutations of 2 genes, PKD1 and PKD2, account for the disease in approximately 80% to 85% and 10% to 15% of families respectively. The gene products (polycystin 1 and 2) of PKD1 and PKD2 are plasm...

THE SET of seven papers which follow constitutes a report which in its design complements the more common type of clinical investigation. The study sets out specifically to examine a pair of hypotheses: that rheumatoid arthritis is in part determined by a genetic mechanism and is in part determined by social effects within the family. The study uses a carefully validated and thrice repeated int...

Dissociation is postulated to occur as a function of particular types of child abuse or chronic abuse. Additionally, there is an ongoing controversy examining the perpetrator's relationship to the victim in the development of dissociation. In this study, reports of traumatic events experienced both in the family environment and in the community were used to examine the relationship between diss...

IJEMHHR • Vol. 18, No. 2 • 2016 742 INTRODUCTION Adult sexual perpetration against children and child abuse is a critical public concern and social problem (Bonnar-Kidd, 2010; Calkins, et al., 2014; Whitaker, Lutzker & Shelley, 2005). Child Protective Services (CPS) substantiated approximately 62,936 child sexual abuse cases in 2012 (U.S. Department of Health and Human Service [USDHHS], 2012) w...

This study addresses the empirical question of whether families high in communication deviance (CD) assessed from parental projective test data show direct interaction patterns similar to those found in families with offspring diagnosed as schizophrenic. Three parameters of interactive functioning were examined— focus of communication, role structure, and nonverbal affective attitude. The data ...