Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delay.

Background: Heterozygous variants in (), encoding an essential and ubiquitously expressed cation channel, may cause hypomagnesemia, but current evidence is insufficient to draw definite conclusions and it is unclear whether any other phenotypes can occur.

Methods: Individuals with unexplained hypomagnesemia underwent whole-exome sequencing which identified variants. Pathogenicity of the identified variants was assessed by combining phenotypic, functional and analyses.

Low-grade diffusely infiltrative tumour (LGDIT), SMARCB1-mutant: A clinical and histopathological distinct entity showing epigenetic similarity with ATRT-MYC.

Low-grade diffusely infiltrative tumour (LGDIT), SMARCB1-mutant, is a histopathological distinct low-grade lesion encountered in older children and young adults that shows epigenetic similarity with ATRT-MYC and has the potential for malignant progression.

Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants.

Mosaic KRAS variants and other RASopathy genes cause oculoectodermal, encephalo-cranio-cutaneous lipomatosis, and Schimmelpenning-Feuerstein-Mims syndromes, and a spectrum of vascular malformations, overgrowth and other associated anomalies, the latter of which are only recently being characterized. We describe eight individuals in total (six unreported cases and two previously reported cases) with somatic KRAS variants and variably associated features. Given the findings of somatic overgrowth (in seven individuals) and vascular or lymphatic malformations (in eight individuals), we suggest mosaic RASopathies (mosaic KRAS variants) be considered in the differential diagnosis for individuals presenting with asymmetric overgrowth and lymphatic or vascular anomalies.

Prevalence of thyroid autoimmunity and effect of levothyroxine treatment in a cohort of 1064 patients with recurrent pregnancy loss.

Research Question: Does initiating levothyroxine treatment based on thyroid-stimulating hormone (TSH) >2.5 mIU/l or thyroid autoimmunity improve pregnancy continuation rates in recurrent pregnancy loss (RPL) patients?

Design: A retrospective cohort study of 1064 RPL patients, in which subjects were classified as either euthyroid (TSH 0.1 to ≤2.

Psychosocial difficulties identified by health care providers as they predict pain-related quality of life in children with cancer.

This study examined the predictive validity of the Psychosocial Care Checklist (PCCL), a psychosocial screener completed by a pediatric cancer health care provider (HCP), on child pain-related and nausea-related quality of life (QOL), and whether these associations are moderated by family psychosocial risk (Psychosocial Assessment Tool, PAT). Caregivers (N = 122) of children newly diagnosed with cancer and 62 HCPs (11 social workers, 17 nurses, 34 oncologists) at two Canadian sites participated. Near diagnosis (T1) and six months later (T2), caregivers reported on child QOL and family psychosocial risk, which was categorized as universal (typical distress), targeted (targetable distress), or clinical (severe distress).

Adolescent and young adult women's opinions of common eating disorder prevention messages.

We examined young women's opinions of five common eating disorder (ED) prevention themes in terms of persuasiveness and impact on behavioral intentions. Video-taped prevention themes were rated by female adolescents and young adults (ages 13-25) with and without eating disorders. Overall, younger participants found the prevention messages less persuasive than older participants.