Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC-MS/MS.

In recent years, pathogenic variants in ARS genes, encoding aminoacyl-tRNA synthetases (aaRSs), have been associated with human disease. Patients harbouring pathogenic variants in ARS genes have clinical signs partly unique to certain aaRSs defects, partly overlapping between the different aaRSs defects. Diagnosis relies mostly on genetics and remains challenging, often requiring functional validation of new ARS variants.

Thyroid Disease and Type 1 Diabetes in Dutch Children: A Nationwide Study (Young Dudes-3).

Objective: To investigate the prevalence of overt thyroid disease in children in The Netherlands with and without type 1 diabetes mellitus (T1DM).

Study Design: Nationwide, retrospective cohort study in The Netherlands. Using the national registry of both healthcare reimbursement and pharmaceutical care, data of all Dutch children (aged 0-14 years) with a diagnosis of T1DM, or a diagnosis of hypothyroidism or hyperthyroidism in the period 2009-2011.

[A premature infant with increased bleeding tendency: what if the family history of bleeding disorders is negative?].

Background: Haemophilia A is an X-chromosome recessive hereditary disorder and occurs in 1 in 5000 boys. In 30-50% of patients with haemophilia the family history of bleeding disorders is negative.

Case Description: We report on a premature male infant, born at 33 weeks of gestation, who exhibited prolonged bleeding from venipuncture sites the day after birth.

Metabolic Health in Short Children Born Small for Gestational Age Treated With Growth Hormone and Gonadotropin-Releasing Hormone Analog: Results of a Randomized, Dose-Response Trial.

Context: Previously we showed that pubertal children born small for gestational age (SGA) with a poor adult height (AH) expectation can benefit from treatment with GH 1 mg/m(2) per day (∼ 0.033 mg/kg/d) in combination with 2 years of GnRH analog (GnRHa) and even more so with a double GH dose. GnRHa treatment is thought to have negative effects on body composition and blood pressure.

Eight years of growth hormone treatment in children with Prader-Willi syndrome: maintaining the positive effects.

Background: The most important reason for treating children with Prader-Willi syndrome (PWS) with GH is to optimize their body composition.

Objectives: The aim of this ongoing study was to determine whether long-term GH treatment can counteract the clinical course of increasing obesity in PWS by maintaining the improved body composition brought during early treatment.

Setting: This was a multicenter prospective cohort study.