Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant.

P21-activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic PAK2 variants cause Knobloch syndrome type 2 (KNO2)-a developmental disorder primarily characterized by ocular anomalies. Here, we identified a novel de novo heterozygous missense variant in PAK2, NM_002577.

Alternative approaches for monitoring and evaluation of lymphatic filariasis following mass drug treatment with ivermectin, diethylcarbamazine and albendazole in East New Britain Province, Papua New Guinea.

Background: WHO recommends two annual rounds of mass drug administration (MDA) with ivermectin, diethylcarbamazine, and albendazole (IDA) for lymphatic filariasis (LF) elimination in treatment naïve areas that are not co-endemic for onchocerciasis such as Papua New Guinea (PNG). Whether two rounds of MDA are necessary or sufficient and the optimal sampling strategies and endpoints for stopping MDA remain undefined.

Methods And Findings: Two cross-sectional studies were conducted at baseline (N = 49 clusters or villages) and 12 months after mass drug administration (MDA) with IDA (N = 47 villages) to assess lymphatic filariasis (LF) by circulating filarial antigenemia (CFA) and microfilariae (Mf).

Antimicrobial Resistance Associated with Mass Gatherings: A Systematic Review.

Mass gatherings are associated with the spread of communicable diseases. Some studies have suggested that acquisition of antimicrobial resistance (AMR) may be associated with attendance at specific mass gatherings. This systematic review aimed to synthesise evidence on the association between attendance at mass gatherings and antimicrobial resistance (AMR) and assess the prevalence of AMR at mass gatherings.

Performance of the FORD Versus Other Available Models for the Noninvasive Prediction of Pulmonary Hypertension in Patients with Interstitial Lung Disease.

Purpose: Pulmonary hypertension (PH) is associated with morbidity and mortality in patients with interstitial lung disease (ILD). Several prediction models have been proposed to predict PH in ILD patients. We sought to discern how previously described prediction models perform in predicting PH in patients with ILD.

A perinatal psychiatry access program to address rural and medically underserved populations using telemedicine.

Background: Although highly prevalent, most perinatal mental health and substance use disorders often go unrecognized, undiagnosed, and untreated. Perinatal Psychiatry Access Programs have emerged as a successful model to increase the capacity of front-line maternal health care providers to address perinatal mental health conditions through education, consultation, and increased resources and referrals.

Methods: This model has been adapted in South Carolina to include direct access to mental health treatment in response to inadequate maternity care and mental health services, including a large proportion of rural, Medically Underserved Areas in Primary Care and Mental Health Healthcare Provider Shortage Areas throughout the state.