Novel missense mutation affecting the LIM-A domain of LMX1B in a family with Nail-Patella syndrome.

Nail-patella syndrome (NPS) is a rare autosomal dominant disease characterized by developmental defects of dorsal limb structures, the kidney, and the eye, that manifest as dysplastic nails, hypoplastic or absent patella, elbow dysplasia, iliac horns, glomerulopathy, and adult-onset glaucoma, respectively. This disorder is inherited in an autosomal dominant mode and is caused by heterozygous loss-of-function mutations in the gene, which encodes the LIM homeodomain transcription factor LMX1B. In this study, we report the clinical findings of a Spanish family, from the Canary Islands, with three affected members who displayed varying phenotypes.

Quality of life in home-ventilated children and their families.

Unlabelled: HMV (home mechanical ventilation) in children has increased over the last years. The aim of the study was to assess perceived quality of life (QOL) of these children and their families as well as the problems they face in their daily life.We performed a multicentric cross-sectional study using a semi-structured interview about the impact of HMV on families and an evaluation questionnaire about perceived QOL by the patient and their families (pediatric quality of life questionnaire (PedsQL4.

Cocaine use during pregnancy assessed by hair analysis in a Canary Islands cohort.

Background: Drug use during pregnancy is difficult to ascertain, and maternal reports are likely to be inaccurate. The aim of this study was to estimate the prevalence of illicit drug use among pregnant women by using maternal hair analysis.

Methods: A toxicological analysis of hair was used to detect chronic recreational drug use during pregnancy.

[Study of the renal acidification capacity in children diagnosed of idiopathic hypercalciuria].

Objective: To study the capacity of renal acidification in a group of children diagnosed of idiopathic hypercalciuria.

Patient And Methods: 36 children were studied, to those that were determined the pCO2 (UpCO2) maximum urinary with two different stimuli, acetazolamide and sodium bicarbonate (NaHCO3). At 33 of them, was performed an acidification test with frusemide stimulus.

[Intracranial epidural abscess in a newborn secondary to skin catheter].

Intracranial epidural abscesses are uncommon lesions, being more frequents in older children and adults. They commonly arise as a result of direct extension of a preexisting infection and rarely present with focal deficit. We present a case of a 11-days old preterm infant who developed an intracranial epidural abscess as a result of an infected scalp vein catheter.