A homozygous TARS2 variant is a novel cause of syndromic neonatal diabetes.

Aims: Neonatal diabetes is a monogenic condition which can be the presenting feature of complex syndromes. The aim of this study was to identify novel genetic causes of neonatal diabetes with neurological features including developmental delay and epilepsy.

Methods: We performed genome sequencing in 27 individuals with neonatal diabetes plus epilepsy and/or developmental delay of unknown genetic cause.

Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics.

Aims/hypothesis: Current clinical guidelines for childhood-onset monogenic diabetes outside infancy are mainly focused on identifying and testing for dominantly inherited, predominantly MODY genes. There are no systematic studies of the recessively inherited causes of monogenic diabetes that are likely to be more common in populations with high rates of consanguinity. We aimed to determine the contribution of recessive causes of monogenic diabetes in paediatric diabetes clinics and to identify clinical criteria by which to select individuals for recessive monogenic diabetes testing.

Pediatricians' COVID-19 experiences and views on the willingness to receive COVID-19 vaccines: a cross-sectional survey in Turkey.

Developing an effective and safe vaccine against Covid-19 will facilitate return to normal. Due to hesitation toward the vaccine, it is crucial to explore the acceptability of the COVID-19 vaccine to the public and healthcare workers. In this cross-sectional survey, we invited 2251 pediatricians and 506 (22%) of them responded survey and 424 (84%) gave either nasopharyngeal swap or antibody assay for COVID-19 and 71 (14%) of them got diagnosis of COVID-19.