Identification of two novel non-coding variants in Diamond-Blackfan Anemia Syndrome patients by whole genome sequencing.

Diamond-Blackfan Anemia Syndrome (DBAS) is a rare congenital disorder with variable penetrance and expressivity, characterized by pure red cell aplasia that typically manifests as early-onset chronic macrocytic or normocytic anemia and is often associated with other congenital anomalies. DBAS is etiologically heterogeneous, with over 20 known DBAS-associated genes encoding small and large ribosomal protein subunits, and an inheritance pattern largely as autosomal dominant or sporadic. We report two DBAS cases with prior negative genetic testing, which included targeted gene panels, karyotype analysis, chromosome breakage analysis, and whole exome sequencing (WES).

Inpatient Immunotherapy Outcomes Study: A Multicenter Retrospective Analysis.

Purpose: Immune checkpoint inhibitors (ICIs) have revolutionized the care of patients with cancer, but use among hospitalized patients is controversial as a result of questionable benefit and high costs. To evaluate the role of ICIs in the inpatient (IP) setting, we conducted the Inpatient Immunotherapy Outcomes Study (IIOS) to describe characteristics and outcomes of patients who received IP ICIs.

Methods: IIOS is a retrospective study of patients treated with ICIs during hospitalization between 2012 and 2021 at five academic institutions.

Diagnosis, Classification, and Treatment of Canine Tooth Resorption: A Literature Review.

Tooth resorption is a common finding in imaging and oral examination of the canine veterinary dental patient. Although significant literature exists on tooth resorption in the feline, available canine tooth resorption publications are sparse. This article aims to provide a comprehensive literature review of canine tooth resorption, including diagnosis, classification, and treatment.

Radiating for Two: Quantifying Radiation Exposure to Pregnant Urologists During Percutaneous Nephrolithotomy.

Purpose: Current occupational recommendations limit fetal radiation dose to 1 mSv. With increased gender diversity in urology, understanding radiation exposure during pregnancy is crucial. The purpose of this study was to determine surgeon uterine radiation dose during percutaneous nephrolithotomy (PCNL) and compare effectiveness of several radiation reduction strategies in a cadaver model.

The Reliability of Field-Based Static and Dynamic Balance Tests in Primary School-Aged Autistic Children.

Previous research has proven that the balance of autistic children is poor. However, the reliability of assessing balance in this cohort has been inadequately researched. This study therefore aimed to examine if field-based static and dynamic balance tests can be reliably assessed in autistic children, to determine the number of familiarisation sessions required and whether autistic severity impacts on the reliability of these balance tests.