A Novel Homozygous Mutation Causes Ovarian Dysgenesis and Primary Amenorrhea.

Context: Despite a growing number of studies, the genetic etiology in many cases of ovarian dysgenesis is incompletely understood.

Objectives: This work aimed to study the genetic etiology causing absence of spontaneous pubertal development, hypergonadotropic hypogonadism, and primary amenorrhea in 2 sisters.

Methods: Whole-exome sequencing was performed on DNA extracted from peripheral lymphocytes of 2 Palestinian sisters born to consanguineous parents.

Real-world trends and future projections of the prevalence of cirrhosis and hepatic encephalopathy among commercially and Medicare-insured adults in the United States.

Objectives: Describing cirrhosis and hepatic encephalopathy (HE) burden over time can inform clinical management and resource allocation. Using health care claims data, this observational study examined recent trends in the prevalence of cirrhosis and HE and associated health care resource utilization among commercially and Medicare-insured adults in the United States (US).

Methods: Data from the MarketScan Commercial Claims and Encounters Database and 100% Medicare Research Identifiable Files were analyzed (2007-2020).

A phase I clinical trial of intrahepatic artery delivery of TG6002 in combination with oral 5-fluorocytosine in patients with liver-dominant metastatic colorectal cancer.

Background: Effective treatment for patients with metastatic cancer is limited, particularly for colorectal cancer patients with metastatic liver lesions (mCRC), where accessibility to numerous tumours is essential for favourable clinical outcomes. Oncolytic viruses (OVs) selectively replicate in cancer cells; however, direct targeting of inaccessible lesions is limited when using conventional intravenous or intratumoural administration routes.

Methods: We conducted a multi-centre, dose-escalation, phase I study of vaccinia virus, TG6002, via intrahepatic artery (IHA) delivery in combination with the oral pro-drug 5-fluorocytosine to fifteen mCRC patients.

Challenges and motivating factors for integrating geostatistical models in targeted schistosomiasis control: A qualitative case study in Northwestern Tanzania.

Introduction: To address problems of over- and under-treatment with preventive chemotherapy resulting in ongoing transmission of schistosomiasis, the World Health Organization (WHO) recommends targeted mass drug administration (MDA) interventions at a sub-district level. In Tanzania, the lack of sub-district (ward) prevalence data has inhibited a transition to targeted treatment. Model-based prevalence estimation combined with routine surveillance data can be used to overcome this gap.

A non-systematic overview review of self-focused emotion regulation in autistic individuals through the lens of the extended process model.

We know that many autistic children, youth, and adults experience difficulties regulating emotions. Existing research has focused mainly on the differences in emotion regulation capabilities between autistic and non-autistic individuals, the relationships between autistic traits and emotion regulation, and how emotion regulation relates to other outcomes, such as social skills and mental health.We want to take a new approach to review the existing emotion regulation research through the lens of a specific theoretical model: the extended process model of emotion regulation.