Primrose syndrome: Characterization of the phenotype in 42 patients.

Primrose syndrome (PS; MIM# 259050) is characterized by intellectual disability (ID), macrocephaly, unusual facial features (frontal bossing, deeply set eyes, down-slanting palpebral fissures), calcified external ears, sparse body hair and distal muscle wasting. The syndrome is caused by de novo heterozygous missense variants in ZBTB20. Most of the 29 published patients are adults as characteristics appear more recognizable with age.

SENS-U: continuous home monitoring of natural nocturnal bladder filling in children with nocturnal enuresis - a feasibility study.

Introduction: Enuresis is a common problem in children. One treatment option is a wetting alarm that provides an alarm when incontinence occurs. A drawback of this approach is that the child is still awakened by wet sheets.

Carboxyhemoglobin in umbilical cord blood and maternal smoking.

Background Smoking during pregnancy still exists in daily life but the effect on the newborn in the early stage of life is still unclear. This study investigates the normal reference range of carboxyhemoglobin (HbCO) in umbilical cord blood gas (UBG). Methods A single center retrospective cross-sectional cohort study was performed with 1172 cases.

[Familial hypercholesterolemia: why screening, counselling and treatment should be integrated].

Familial hypercholesterolemia (FH) is a monogenic autosomal dominant disorder. FH is the most common hereditary cause of raised serum cholesterol levels and is associated with an increased risk of premature cardiovascular disease (CVD). This disorder is known to have a genetic cause, and effective drug therapies exist for patients with FH.