The 2021 European Training Requirements in Paediatric Endocrinology and Diabetes.

The aims of the 2021 European Training Requirements (ETR) in Paediatric Endocrinology and Diabetes (PED) are to (1) provide standards to harmonize training programmes in PED between different European countries, (2) establish clearly defined standards of knowledge and skills required to practice PED at the tertiary care level, (3) foster the development of a network of competent tertiary care centres for PED in Europe and globally, and (4) improve the quality of care for children and adolescents requiring PED services. This ETR in PED specifies the requirements for training institutions, trainers, and trainees. It also provides the detailed syllabus/core content that trainees are expected to achieve in order to become competent independent clinicians in PED.

Understanding the role of genetic variability in LRRK2 in Indian population.

Background: Genetic variability in LRRK2 has been unequivocally established as a major risk factor for familial and sporadic forms of PD in ethnically diverse populations.

Objectives: To resolve the role of LRRK2 in the Indian population.

Methods: We performed targeted resequencing of the LRRK2 locus in 288 cases and 298 controls and resolved the haplotypic structure of LRRK2 in a combined cohort of 800 cases and 402 controls in the Indian population.

KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.

Background: Joubert syndrome (JBTS) and related disorders are defined by cerebellar malformation (molar tooth sign), together with neurological symptoms of variable expressivity. The ciliary basis of Joubert syndrome related disorders frequently extends the phenotype to tissues such as the eye, kidney, skeleton and craniofacial structures.

Results: Using autozygome and exome analyses, we identified a null mutation in KIAA0556 in a multiplex consanguineous family with hallmark features of mild Joubert syndrome.

Predicting early death in patients with traumatic bleeding: development and validation of prognostic model.

Objective: To develop and validate a prognostic model for early death in patients with traumatic bleeding.

Design: Multivariable logistic regression of a large international cohort of trauma patients.

Setting: 274 hospitals in 40 high, medium, and low income countries

Participants: Prognostic model development: 20,127 trauma patients with, or at risk of, significant bleeding, within 8 hours of injury in the Clinical Randomisation of an Antifibrinolytic in Significant Haemorrhage (CRASH-2) trial.

Audit of deaths less than a week after admission through an emergency department: how accurate was the ED diagnosis and were any deaths preventable?

Aim: To review the causes of death in patients admitted via the emergency department (ED) who died within 7 days of admission and to identify any ways in which ED care could have been better. The study also aims to compare the diagnosis made in the ED and the mortality diagnosis.

Methods: A retrospective study; subjects were all patients who attended the ED over 4 months and died within 7 days of admission.