Androgen receptor dysfunction as a prevalent manifestation in young male carriers of a FLNA gene mutation.

Androgenic actions require the proper signal transmission by the androgen receptor (AR), a nuclear transcription factor. This is initially located in the cell cytoplasm and should translocates to the nucleus to interact with DNA. AR functional impairment causes diverse blockage degrees of androgenic steroid action, known as androgen insensitivity syndromes.

High serum retinol and lung function in young patients with cystic fibrosis.

Objective: The aim of the present study was to explore the relation between lung function and serum retinol (SR) in cystic fibrosis (CF) patients.

Methods: This was a cross-sectional study conducted in a group of 98 young patients with CF (6.8-22.

Rare neonatal diabetes insipidus and associated late risks: case report.

Background: Most cases of neonatal central diabetes insipidus are caused by an injury, which often results in other handicaps in the patient. The infant's prognosis will be determined by his or her own early age and disability as well as by the physician's skill. However, the rarity of this condition prevents the acquisition of personal experience dealing with it.

[Insulin resistance in overweight cystic fibrosis paediatric patients].

Aim: To determine the prevalence of overweight in paediatric patients with cystic fibrosis (CF) and to analyse its role as diabetogenic insulin resistance factor and risk of hypertriglyceridaemia.

Patients And Methods: A total of 109 CF patients (47% males) between 5 and 18 years were divided into 3 groups according to body mass index (BMI): underweight, normal and overweight. Total cholesterol, triglycerides, C- reactive protein (CRP), glycosylated haemoglobin, HOMA-IR and QUICKI index were determined.

[Childhood lead poisoning in Asturias].

We have determined the blood lead levels of 1,242 children, from newborn to 14 years old, and 79 young mothers in a period of 10 months in Asturias (Spain). All of them were selected at random among those who consulted one of the three main hospitals in Asturias, but none were diagnosed as lead poisoning. We have found a mean blood lead level of 22.

[Pancreatic echography in infantile diabetes].

Our objective was to investigate the pancreatic ultrasonographic size in diabetic children in order to compare in with a healthy population of children and to relate it to the characteristics of their disease. Fifty-four children (age 8.59 +/- 3.