Search results for "NHE"

VACTERL with hydrocephalus: A further case with probable autosomal recessive inheritance

1994

Conflicts in Family Relations, Children's Emotions and Agency

2017

What kind of conflicts and tensions do children experience with other children and adults in the family? Content analysis of 32 thematic interviews with 10- to 13-year-old children revealed that while conflicts often concern daily actions, tasks and routines, they also relate to decision-making and fair treatment or to matters threatening the child's sense of emotional security. Parental conflicts and conflicts in child–parent relationships often arouse negative emotions that lead children to suppress their agency. However, conflicts, particularly those between siblings, may also open up possibilities for negotiation and agency.

Comparison of healthy behavior in Ukrainian and Polish students of physical education

2021

Introduction: This study aimed to examine the healthy behaviors in undergraduate students of Physical Education (PE) from Ukraine and Poland in comparison to the control sample of students of other faculties. Material and methods: The group of 564 university students (67% of males), ranging in age from 18 to 41 years (M = 22.05, SD = 2.49), was surveyed using a written form of the Health Behavior Inventory (HBI). The HBI includes the following four subscales: healthy habits, nutrition (HHN), preventive behavior (PB), positive adjustments (PA), and healthy practices (HP). Undergraduates' sample consisted of 25% Ukrainian students of PE faculty, 30% Polish PE students, and 45% Polish sample o…

De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of E…

2013

Item does not contain fulltext Anorectal malformations (ARMs) comprise a broad spectrum of conditions ranging from mild anal anomalies to complex cloacal malformations. In 40-50% of cases, ARM occurs within the context of defined genetic syndromes or complex multiple congenital anomalies, such as VATER/VACTERL (vertebral defects [V], ARMs [A], cardiac defects [C], tracheoesophageal fistula with or without esophageal atresia [TE], renal malformations [R], and limb defects [L]) association. Here, we report the identification of deletions at chromosome 13q using single nucleotide polymorphism-based array analysis in two patients with mild ARM as part of VATER/VACTERL and VATER/VACTERL-like ass…

Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence

2016

The chromosome bands 15q24.1-15q24.3 contain a complex region with numerous segmental duplications that predispose to regional microduplications and microdeletions, both of which have been linked to intellectual disability, speech delay and autistic features. The region may also harbour common inversion polymorphisms whose functional and phenotypic manifestations are unknown. Using single nucleotide polymorphism (SNP) data, we detected four large contiguous haplotype-genotypes at 15q24 with Mendelian inheritance in 2,562 trios, African origin, high population stratification and reduced recombination rates. Although the haplotype-genotypes have been most likely generated by decreased or abse…

Pharmacokinetic properties of recombinant FVIIa in inherited FVII deficiency account for a large volume of distribution at steady state and a prolong…

2014

Pharmacokinetic properties of recombinant FVIIa in inherited FVII deficiency account for a large volume of distribution at steady state and a prolonged pharmacodynamic effect -

MASPEGHI 2004 Mechanisms for Speialization, Generalization and Inheritance

2005

Rapport de Recherche Projet OCL, N° I3S/RR-2004-15-FR; International audience; MASPEGHI 2004 is the third edition of the MASPEGHI workshop. This year the organizers of both the ECOOP 2002 Inheritance Workshop and MASPEGHI 2003 came together to enlarge the scope of the workshop and to address new challenges. We succeeded in gathering a diverse group of researchers and practitioners interested in mechanisms for managing specialization and generalization of programming language components. The workshop contained a series of presentations with discussions as well as group work, and the interplay between the more than 22 highly skilled and inspiring people from many different communities gave ri…

Family Assets and Financial Misfortunes of the Castellví Family during the 17th Century

2014

La rama del linaje valenciano de los Castellví iniciada a principios del quinientos por el señor de Puchol protagonizó durante el siglo XVII un significativo proceso de acumulación patrimonial. En el origen del mismo se sitúan las adquisiciones realizadas por los sucesivos miembros que lo encabezaron, pero tan importante como ello resultó la estrategia matrimonial de los titulares del linaje, el reducido número de hijos y la reversión a la línea principal de legados de los miembros de la familia que no contrajeron matrimonio o fallecieron sin descendencia. En contrapartida, diversos factores se conjugaron para provocar un endeudamiento progresivo, especialmente acusado desde la década de 16…

Derechos de la viuda en la Valencia foral

2001

This article is about the rights of widows over their deceased husbands’ goods. We can not forget that, because of regulations regarding the separation of properties, these women are in a defenceless situation if they lack their own property, having to depend in most cases on their husbands’ testament. The severity of the system has to be alleviated with dowries, in order that when their husbands die women without inheritance could have at least a certain security. They are in a situation of economic vulnerability, especially grave when their husbands die without property. In this case, the widow’s rights are important in order to ameliorate the economic suffering they experience in their j…

In search of a theoretical framework of factors influencing work and life balance

2021

Work and life balance (WLB) has gained noticeable attention amid the pandemic. Even before the outbreak of COVID-19, the increasing pace of life encouraged the investigation of individual and organisational aspects of WLB. Physically and mentally healthy people help society develop and grow. Health issues caused by work and life imbalance lead to dissatisfaction with both work and life, which, in turn, leads to higher stress and stress-related illnesses, for instance, burnout. From the organisational point of view, WLB is a factor in analysing the efficiency of an enterprise. The consequences of a work-life imbalance are intentional or unintentional absence, high employee turnover, low prod…