Assessing longitudinal prenatal knowledge and skills retention among community birth attendants enrolled in a novel school.

Objective: Guatemala has one of the highest rates of maternal mortality in Central America. A total of 60% of births in Guatemala are attended by traditional Mayan birth attendants, or comadronas. Their prevalence in these communities makes them a valuable resource to bridge home births with safe prenatal care.

Therapeutic plasmapheresis as an effective treatment for refractory anti-3-hydroxy-3-methylglutaryl coenzyme A reductase-positive immune-mediated necrotising myopathy.

Immune-mediated necrotising myopathy (IMNM) can be associated with autoantibodies to 3-hydroxy-3-methylglutaryl coenzyme A reductase (anti-HMGCR). We present a case of a man in his 60s with a 13-year history of relapsing anti-HMGCR-positive IMNM, intermittently partially responsive to various treatments including corticosteroids, methotrexate, mycophenolate, intravenous immunoglobulin, abatacept and rituximab. After a repeat presentation with severe weakness, plasmapheresis was commenced, resulting in rapid and significant improvement in muscle strength and biochemical markers, which was sustained for several months.

Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.

Purpose: We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study.

Methods: Individuals in the Deciphering Developmental Disorders study who had a pathogenic/likely pathogenic genotype in the DECIPHER database were selected for inclusion ( = 5010). Clinical notes from regional clinical genetics services notes were reviewed to assess predefined clinical outcomes relating to interventions, prenatal choices, and information provision.

RNA splicing: a split consensus reveals two major 5' splice site classes.

The established consensus sequence for human 5' splice sites masks the presence of two major splice site classes defined by preferential base-pairing potentials with either U5 snRNA loop 1 or the U6 snRNA ACAGA box. The two 5' splice site classes are separable in genome sequences, sensitized by specific genotypes and associated with splicing complexity. The two classes reflect the commitment to 5' splice site usage occurring primarily during 5' splice site transfer to U6 snRNA.

Use of Practices to Reduce of Sudden Unexpected Infant Death among Caregivers of Opioid Exposed Newborns.

Objectives: Sudden unexpected infant death (SUID) occurs disproportionately among opioid exposed newborns (OENs) compared to those unexposed. The extent that primary caregivers of OENs adhere to SUID-reducing infant care practices is unknown. We examined rates of SUID-reducing practices (smoking cessation, breastfeeding, and safe sleep [supine sleep, room-sharing not bed-sharing, nonuse of soft bedding or objects]) in a pilot sample of caregivers of OENs.