Natural history of propionic acidemia in the Amish population.

Propionic acidemia (PA) in the Amish is caused by a homozygous pathogenic variant (c.1606A>G; p.Asn536Asp) in the gene.

Partner perspectives on women's sexual and reproductive healthcare in cystic fibrosis.

Background: Women with cystic fibrosis (CF) face many sexual and reproductive health (SRH) concerns. Studies suggest that educating and involving partners in SRH care can improve outcomes. This study investigated partners' perceptions of and preferences for women's SRH care in CF.

Under-referral of Plain community members for genetic services despite being qualified for genetic evaluation.

Plain community people (Amish and Mennonites) have increased risk of having recessive genetic disorders. This study was designed to assess the rate of referral of Plain people to genetic services at UPMC Children's Hospital of Pittsburgh. Medical records of Plain patients from a 1-year time period were reviewed.

Vaccination rate and immunity of children and adolescents with inflammatory bowel disease or autoimmune hepatitis in Germany.

Background And Aims: Immunosuppressed patients are at risk of severe infections with vaccination preventable diseases. We evaluated vaccination rate and immunity of children and adolescents with inflammatory bowel disease (IBD) and autoimmune hepatitis (AIH).

Methods: Immunization rate of 329 children with IBD (n = 300) and AIH (n = 29) was assessed in seven German centres using vaccination certificates, history of chicken pox and by determining anti-varicella zoster virus (VZV) and anti-measles IgG antibodies.

Effects of a randomized intervention promoting healthy children's meals on children's ordering and dietary intake in a quick-service restaurant.

Background: Children's consumption of restaurant foods is associated with higher energy intake and lower nutritional quality compared to foods prepared at home. The aim of this pilot study was to test whether an in-restaurant intervention promoting healthy children's meals (i.e.