Category Archives: Congenital disorders
Sep
Introduction Congenital ichthyoses are a group of diseases which all have some degree of hyperkeratosis, or skin thickening. The genetic etiologies are diverse, but as many current treatments aim to address the symptoms, we will discuss the diseases together. Following the overall treatment recommendations, the major categories of which are highlighted in Figure 1, we […]
Sep
Abstract Finasteride and dutasteride, synthetic 5α-reductase inhibitors (5ARIs) are recommended in many guidelines for the treatment of benign prostatic hyperplasia/lower urinary tract symptoms and alopecia despite a variety of side effects like sexual, neurological, psychiatric, endocrinological, metabolic and ophthalmological dysfunctions and the increased incidence of high grade prostate cancer. The sexual side effects are common […]
Sep
Abstract The goals of this study were to investigate the incidence and characteristics of hematuria in patients with microtia, and to clarify that more attention should be paid to renal dysfunction in patients with microtia. We conducted a retrospective cohort study of a total 9447 children diagnosed with microtia (selected as study group, 7037 children) […]
Sep
Kyphosis is a condition in which there is excessive curvature of the spine. It is sometimes called “round back” or “hunchbacked.” The term “thoracic kyphosis” is also used to describe kyphosis because it affects the thoracic spine (mid to upper spine). It causes a reverse C-shaped curve toward the chest. Kyphosis types include postural kyphosis, […]
Sep
Welcome to NeurologyLive® Brain Games! This weekly quiz series, which goes live every Sunday morning, will feature questions on a variety of clinical and historical neurology topics, written by physicians, clinicians, and experts in the fields of neurological care and advocacy. Test your mettle each week with 3 questions that cover a variety of aspects […]
Congenital disorders
Despite Failing to Meet Primary End Point, AMO-02 Shows Additional Benefits in Myotonic Dystrophy
Sep
Joe Horrigan Newly announced data from the ongoing REACH-CDM clinical study (NCT05004129) showed that AMO-02 (AMO Pharma), an investigational agent in development for congenital myotonic dystrophy, failed to meet its primary end point; however, achieved clinically and statistically significant benefit in various functional and objective assessments.1 The phase 2/3 study featured 56 patients across sites […]
Sep
With World Heart Day coming up shortly, and evidence now showing that heart disease is no longer a disease of the elderly but affecting younger patients as well, the Sunday Observer spoke to Consultant Cardiologist Base Hospital Tangalle and Base Hospital Panadura, Dr. Wasantha Abeywickrama to find out the what brought on this disturbing trend, […]