Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene.

Asphyxiating thoracic dysplasia (ATD) represents a heterogeneous group of skeletal dysplasias with short ribs, narrow chest and reduced thoracic capacity. Mutations in several genes including IFT80, DYNC2H1, TTC21B and WDR19 have been found in patients with ATD. Both severe and milder course of the disease were described in correlation with secondary involvement of lung's function.

Tibial speed of sound changes in preterm infants during the first year of life.

Introduction: Metabolic bone disease of prematurity (MBD) frequently affects preterm infants. The accurate diagnosis of the MBD remains a challenging issue despite characteristic clinical, laboratory and imaging features. Recently, non-invasive quantitative ultrasound (QUS) measuring speed of sound (SOS) has been applied to assess bone status.

T-tube ileostomy for intestinal perforation in extremely low birth weight neonates.

To evaluate the results of use of T-tube ileostomy in selected cases of intestinal perforation in extremely low birth weight (ELBW) neonates. The records of 288 ELBW neonates treated at author's institution, from 1998 to 2003 were retrospectively reviewed to identify neonates operated for intestinal perforation with T-tube placement. T-tube was inserted into the bowel through the site of perforation or proximally to the perforated gut via separate stab incision.

Congenital diaphragmatic hernia associated with esophageal atresia, tracheoesophageal fistula, and truncus arteriosus in a premature newborn.

The occurrence of coexisting congenital diaphragmatic hernia (CDH) and esophageal atresia (EA) with distal tracheoesophageal fistula (TEF) is extremely rare and is considered highly lethal. The combination of CDH with EA/TEF and truncus arteriosus communis (TAC) has not been reported in the literature to date. The authors describe a premature neonate with this association.

[Are there any new procedures for treating necrotising enterocolitis in neonates with very low birth weight?].

Objective: To evaluate some perinatal and neonatal risk factors of occurrence of necrotising enterocolitis (NEC) and the current possibilities of treatment.

Design: A retrospective data analysis.

Setting: Mother and Child Care Institute, Prague.

[The first experience with linezolide in treatment of nosocomial septic condition in premature neonates].

Objective: Nosocomial infections caused by the coagulase-negative staphylococci are among the most frequent complications in an intensive care unit for neonates. The authors describe three cases of successful treatment of this complication in which the new antibiotic Linezolide was used.

Design: Analysis of three clinical cases.

[Necrotizing enterocolitis in extremely immature newborns. The surgical treatment potential].

Aim: The aim of this study is to assess a contemporary treatment potential for necrotizing enterocolitis in newborns with birth weights under 1000 g. METHODOLOGY AND SUBJECTS: This is a retrospective study of clinical and pathological data in a group of 19 newborns with birth weights under 1000 g treated for necrotizing colitis (NEC) by the authors' team from 1999 to 2003. Only newborns with the second and third grade NEC according to Bell were included in the trial group.

High doses of acyclovir: a new concept in the treatment of neonatal herpes simplex virus infection.

The authors present a case of a preterm newborn with congenital infection of herpes simplex virus type 2. The patient was treated with newly recommended high intravenous doses of acyclovir. It can be supposed that it reduces mortality, but the high morbidity continues to be a problem.

[Pseudo-hydrothorax in peripheral venous catheterization in an extremely premature neonate--case report].

The authors describe very rare complication (pseudopleural effusion) after peripheral venous cannulation (Introcan-W 24G3/4 through v. axilaris) in extremely premature newborn with birth weight 600 grams, which lead to worsening of patient's respiratory insufficiency. Ultrasonographic examination confirmed extrapleural process without necessity of surgical intervention.

[Personal care habits of individuals over age 65 having no cognitive impairment and residing in the Guadalajara Health Care District].

Background: The aim of this study is that of ascertaining the characteristics of the personal care habits of those individuals over age 65 who have no cognitive impairment within the province of Guadalajara who are residents of the community based on the hypotheses that the same are deficient and therefore subject to improvement.

Methods: This is an observational, analytical cross-sectional study within a Primary Care, distinguishing between the urban and rural environments. A questionnaire (involving prior trial and reliability study by means of an analysis of the stability of the answers based on a kappa factor) was given out to a random, layered ample divided into different stages and proportional by age, gender and centers of population.