Radiotherapy-induced Hypothalamic-Pituitary axis dysfunction in adult Brain, head and neck and skull base tumor patients - A systematic review and Meta-Analysis.

Background And Purpose: Radiotherapy for brain, head & neck (HN), and skull base (SB) tumors may deliver significant radiation dose to the hypothalamic-pituitary axis (HPA), leading to impaired functioning of this region and hence, to endocrine disorders. The purpose of this systematic review and -analysis is to investigate literature on HP dysfunction after radiation for non-pituitary brain, HN, or SB tumors at adult age, aiming to give insight in the prevalence of HP dysfunction related to radiation dose.

Materials And Methods: Literature search of the PubMed database was performed for HP dysfunction after radiotherapy in adult patients.

Dominant negative mutations cause ADA2 deficiency in heterozygous carriers.

Human ADA2 deficiency (DADA2) is an inborn error of immunity with a broad clinical phenotype which encompasses vasculopathy including livedo racemosa and lacunar strokes, as well as hemato-immunological features. Diagnosis is based on the combination of decreased serum ADA2 activity and the identification of biallelic deleterious alleles in the gene. DADA2 carriers harbor a single pathogenic variant in and are mostly considered healthy and asymptomatic.

Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency.

G6PC3 deficiency is a monogenic immunometabolic disorder that causes severe congenital neutropenia type 4. Patients display heterogeneous extra-hematological manifestations, contributing to delayed diagnosis. Here, we investigated the origin and functional consequence of the G6PC3 c.

Comparison of Hematological Markers between Right Ureteral Stone and Acute Appendicitis.

Referrals to emergency services are frequently made for acute appendicitis and renal colic. This conundrum of patients with acute appendicitis and right ureteral stones frequently presents itself to emergency physicians. The hematological parameters of patients suffering from acute appendicitis and right ureteral stones were compared in this study.