Overlap autoimmune hepatitis and primary sclerosing cholangitis in a patient with multiple sclerosis.

A 16-year-old boy was diagnosed from multiple sclerosis (MS) after suffering from paresthesia in upper limbs and VI cranial nerve paresis. Corticosteroids and fingolimod were started. After 13 months a worsening of liver biochemical tests (LBT) was noticed: ALP 787 U/L, GGT 737 U/L, AST 195, ALT 321, Bi 0.

Streptococcus canis Rapidly Progressive and Fatal Neonatal Sepsis in a Term Infant.

Background: Streptococcus canis (S. canis), belonging to β-hemolytic group G streptococci, is increasingly reported to cause sepsis and severe infections in adults with comorbidities but is rarely reported in children.

Methods: We describe a case of S.

Investigating the impact of screen-sharing visual aids during genomic results disclosure via telehealth in diverse families in the TeleKidSeq pilot study.

Purpose: Telehealth genetic counseling is comparable to in-person visits in terms of satisfaction, knowledge, and psychological outcomes, but using visual aids can be challenging on telehealth platforms. This pilot study assessed if the "screen-sharing" feature via Zoom to display visual aids during results disclosure session positively impacted parental experience and comprehension of their child's genomic results especially in underrepresented groups and those with limited English proficiency.

Methods: In the TeleKidSeq pilot study, 409 children with suspected genetic conditions underwent genome sequencing.

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.

From "isolation" to "me-time": linguistic shifts enhance solitary experiences.

Spending time alone is a virtually inevitable part of daily life that can promote or undermine well-being. Here, we explore how the language used to describe time alone - such as "me-time", "solitude", or "isolation" - influences how it is perceived and experienced. In Study 1 ( = 500 U.