Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.

Unlabelled: Congenital titinopathy has recently emerged as one of the most common congenital muscle disorders.

Objective: To better understand the presentation and clinical needs of the under-characterized extreme end of the congenital titinopathy severity spectrum.

Methods: We comprehensively analyzed the clinical, imaging, pathology, autopsy, and genetic findings in 15 severely affected individuals from 11 families.

Approach to the Patient: Diagnostic Challenges in the Work Up for Polycystic Ovary Syndrome.

Polycystic ovary syndrome (PCOS) affects 10-13% of women globally. It is a condition with metabolic, reproductive and psychological features, with health impacts across the lifespan. The aetiology of PCOS is complex, with an interplay of several factors including genetic and epigenetic susceptibility, androgen exposure in early life and adiposity related dysfunction leading to hypothalamic-ovarian disturbance.

Correction of meta-analysis after retraction of article on the effects of anti-androgens in polycystic ovary syndrome.

[This corrects the article DOI: 10.1016/j.eclinm.

Reduced durability of hybrid immunity to SARS-CoV-2 in immunocompromised children.

Background: In endemic COVID-19, immunocompromised children are vulnerable until vaccinated but the optimal primary vaccination regime and need for booster doses remains uncertain.

Methods: We recruited 19 immunocompromised children (post-solid organ transplantation, have autoimmune disease or were on current or recent chemotherapy for acute lymphoblastic leukemia), and followed them from the start of primary vaccination with BNT162b2 mRNA SARS-CoV-2 until 1-year post-vaccination. We investigated the quality of vaccine immunogenicity, and longevity of hybrid immunity, in comparison to healthy children.

Lower limb nodules with angioinvasive Phaeoacremonium spp. fungus in an immunocompetent host.

Phaeohyphomycosis has been described to cause a variety of cutaneous manifestations in both immunocompetent and immunocompromised hosts. We report an unexpected case where an immunocompetent elderly female developed a rare angioinvasive fungal cutaneous infection. She had no known history of inoculation, and her lesions resolved without treatment.