Category Archives: Congenital disorders

Neurocrine Biosciences Announces Positive Top-Line Data from Phase 3 Study of Crinecerfont in Adults for the Treatment of Congenital Adrenal Hyperplasia (CAH)

CAHtalyst™ Met Primary Endpoint Demonstrating a Statistically Significant Decrease from Baseline Daily Glucocorticoid Dose with Androgen Control Key Secondary Endpoint Achieved Statistically Significant Decrease in Androstenedione at Week 4 versus Placebo  Key Secondary Endpoint Demonstrated a Statistically Significant Number of Patients on Crinecerfont Achieved a Reduction to a Physiologic Glucocorticoid Dose versus Placebo Crinecerfont Was […]

What is Otopalatodigital Syndrome (Type I and II)?

Otopalatodigital spectrum disorders (OPDSD) constitute a group of rare, congenital, X-linked conditions caused by mutations in the filamin A (FLNA) gene. It includes four syndromes: OPSD type 1 and type 2 (OPD1 and OPD2), frontometaphyseal dysplasia (FMD), and Melnick–Needles syndrome (MNS). Otopalatodigital spectrum disorders. Image Credit: adike/Shutterstock.com These disorders are distinguished by skeletal dysplasia of […]

What is C Syndrome (Opitz Trigonocephaly Syndrome)?

C syndrome, also known as Opitz trigonocephaly syndrome (OTCS) or C Syndrome, is a rare and heterogeneous genetic disorder with a broad range of severity. It was first documented in 1969. C syndrome. Image Credit: nobeastsofierce/Shutterstock.com C syndrome consists of trigonocephaly and dysmorphic craniofacial features as the hallmark features. In the literature, there are just […]

Giant Occipital Encephalocele: A Case Report

Introduction Encephalocele is a birth anomaly in which protrusion of brain tissue and meninges is caused by a defect in the skull. It is responsible for 10–20% of all dysraphism. Occipital encephalocele is caused by bone defects in the occipital bone which sometimes extend to the foramen magnum and the back of the atlas. Occipital […]

Intramedullary epidermoid cyst of the conus medullaris

Introduction Epidermoid cysts were first described by Couvelaire in 1835. It means “perlee tumor” (pearly tumor). Epidermoid cysts are benign, slow-growing lesions that account for <1% of all intraspinal tumors. It can arise congenitally in patients with spinal dysraphism, such as spina bifida, dermal sinus, and syringomyelia, whereas acquired causes include recurrent lumbar punctures resulting […]

8 Common Health Problems Seen in Border Collies

More Great Content: One of the keys to a long and happy life, whether human or animal, is to attend regular health check-ups to screen for the early detection of certain diseases and disorders. Because every breed is prone to some genetic issues, it’s important to stay well-informed and know what to look out for. […]

Viral Vector Development Market: Projected US$ 4.1 Billion Valuation by 2033 for Gene Therapy Soluti

The global Viral Vector Development Market is anticipated to flourish at a phenomenal CAGR of 18.7% over the assessment period from 2023 to 2033. The global market is set to enjoy a valuation of US$ 730.7 Million by the end of the year 2023 to reach a valuation of US$ 4.1 Billion by the year […]

Avalo Enters into Agreement to Divest AVTX-800 Series

WAYNE, Pa. and ROCKVILLE, Md. , Sept. 12, 2023 (GLOBE NEWSWIRE) — Avalo Therapeutics, Inc. (Nasdaq: AVTX), today announced it entered into a purchase agreement (the Purchase Agreement) with AUG Therapeutics, LLC (AUG) to sell its rights, title and interest in, assets relating to AVTX-801 (D-galactose), AVTX-802 (D-mannose) and AVTX-803 (L-fucose) (collectively, the 800 Series). AUG […]

The Inner Circle Acknowledges, Andrew Jonathan Cordiale, DO, MS, as a Top Pinnacle Professional in the field of Orthopedic Spinal Surgeon

NEW YORK, Sept. 11, 2023 /PRNewswire/ — Prominently featured in The Inner Circle, Andrew Jonathan Cordiale, DO, MS, is acknowledged as a Top Pinnacle Professional in the field of Orthopedic Spinal Surgeon. Dr. Cordiale launched his pursuit of higher education at the New York Institute of Technology College of Osteopathic Medicine where he graduated in […]

Patients in low-opportunity neighborhoods fall behind on preventive care

Patients in low-opportunity neighborhoods fall behind on preventive care | Image Credit: © arinahabich – © arinahabich – stock.adobe.com. According to a recent study published in JAMA Network Open, pediatric patients in low-opportunity neighborhoods experience worsened primary care outcomes. Health outcomes, educational attainment, and economic success as adults are all impacted long-term by health inequities […]