Category Archives: Congenital disorders

FISH Imaging Systems Market – 7.3% CAGR for Fluorescence In-Situ Hybridization Imaging Systems Industry worth $1.9Bn, Globally, by 2030

Pune, India, Sept. 22, 2023 (GLOBE NEWSWIRE) — According to our recent research study on “Fluorescence In-Situ Hybridization (FISH) Imaging Systems Market Size and Forecasts (2020 – 2030), Global and Regional Share, Trends, and Growth Opportunity Analysis Report Coverage: By Product (Instruments, Consumables, Accessories, and Software), Application (Cancer Diagnosis, Genetic Disease Diagnosis, Infectious Disease Diagnostic, […]

Number of babies in Mississippi born with syphilis grew tenfold since 2016

The number of babies born with syphilis in Mississippi has increased more than tenfold since 2016, amid US-wide growth in cases of the potentially fatal but entirely preventable disease. Rates of congenital syphilis, which occurs when a mother transmits the infection to the fetus, have more than doubled over the past five years, with the […]

Neurocrine Biosciences Presents Post Hoc Data Analysis in Congenital Adrenal Hyperplasia at ESPE 2023

SAN DIEGO, Sept. 21, 2023 /PRNewswire/ — Neurocrine Biosciences, Inc. (Nasdaq: NBIX), today announced that it will present a new post hoc analysis of Phase 2 data of the investigational drug crinecerfont in adolescent patients with classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD). The analysis suggests that adolescents with classic CAH who have […]

Novel Method Genetically Modifies Individual Cells in Mice

Researchers led by Randall Platt, PhD, professor of biological engineering at the department of biosystems science and engineering at ETH Zurich in Basel, have developed a method to genetically modify individual cells in animals. Their method will enable researchers to study the ramifications of many different gene changes in a single experiment. The findings are […]

Does arsenic exposure cause mortality due to cancer, diabetes, Alzheimer’s and congenital anomalies?

A recent Scientific Reports study focussed on determining the association between arsenic exposure due to groundwater contamination and mortality rates linked to various types of malignancies, diabetes, Alzheimer’s, and congenital anomalies. Study: The association of arsenic exposure with mortality due to cancer, diabetes, Alzheimer’s and congenital anomalies using Poisson regression. Image Credit: magnetix/Shutterstock.com Background Arsenic is one of the […]

Racing to solve rare diseases

Two clinicians at Yale Child Study Center, Fred Volkmar, MD, and Alexander Westphal, MD, PhD, provided Abha Gupta, MD, PhD, support during a preliminary study of 15 families affected by childhood disintegrative disorder, which revealed neurobiological differences between it and other forms of autism. During postdoctoral training, Gupta’s general autism research had not included meeting […]

Challenges in Surgical Intervention for a Rare Case of ASD

1Ophthalmology Department, Dhahran Eye Specialist Hospital, Dhahran, Saudi Arabia; 2Ophthalmology Department, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia Correspondence: Sultan Bakri, Ophthalmology Department, Dhahran Eye Specialist Hospital, Dhahran, Saudi Arabia, Tel +966 553324350, Email [email protected] Abstract: Anterior Segment Dysgenesis (ASD) represents a spectrum of rare, congenital disorders that pose significant challenges to ophthalmological management […]

Association between neurodevelopmental outcomes and concomitant presence of NEC and IVH in extremely low birth weight infants

Abstract Objective To quantify the association between necrotizing enterocolitis (NEC) and neurodevelopmental disability (NDI) in extremely low birth weight (ELBW) infants with intraventricular hemorrhage (IVH). Study design ELBW survivors born 2011–2017 and evaluated at 16–26 months corrected age in the Vermont Oxford Network (VON) ELBW Follow-Up Project were included. Logistic regression determined the adjusted relative […]