Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.

Importance: Previous studies indicated that female sex might be a modifier in Stargardt disease, which is an ABCA4-associated retinopathy.

Objective: To investigate whether women are overrepresented among individuals with ABCA4-associated retinopathy who are carrying at least 1 mild allele or carrying nonmild alleles.

Data Sources: Literature data, data from 2 European centers, and a new study.

Understanding "patient deterioration" in psychotherapy from depressed patients' perspectives: A mixed methods multiple case study.

Objective: This study scrutinizes the meaning of deterioration in psychotherapy beyond the widely used statistical definition of reliable symptom increase pre-to-post treatment.

Method: An explanatory sequential mixed-methods multiple case study was conducted, combining quantitative pre-post outcome evaluation of self-reported depression symptoms and qualitative analysis of patients' interviews. In a Randomized Controlled Study on the treatment of Major Depression, three patients showing reliable increase in symptom severity on the BDI-II pre-to-post therapy were selected.

Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.

The ABCA4 gene is the most frequently mutated Mendelian retinopathy-associated gene. Biallelic variants lead to a variety of phenotypes, however, for thousands of cases the underlying variants remain unknown. Here, we aim to shed further light on the missing heritability of ABCA4-associated retinopathy by analyzing a large cohort of macular dystrophy probands.

Flexor carpi radialis tendon tear due to scaphoid osteoid osteoma: A case report.

Osteoid osteoma is a benign osteoblastic tumor with a low incidence. Due to its uncommon and often confusing clinical presentation, accurate diagnosis is frequently significantly delayed. We report a case of a 56-year old right-handed woman with a history of increasing pain in her right scaphotrapeziotrapezoidal (STT) joint and distal flexor carpi radialis (FCR).