Category Archives: Congenital disorders

Abstract Introduction: Existing guidelines for primary care clinicians (PCCs) on the detection and management of perinatal depression (PD) contain important gaps. This review aims to provide PCCs with a summary of clinically relevant evidence in the field. Methods: A narrative literature review was conducted by searching PubMed and PsycINFO for articles published between 2010 to […]

SAN DIEGO — Neurocrine Biosciences announced on Tuesday that an experimental drug for congenital adrenal hyperplasia succeeded in a late-stage trial, bringing the company a step closer to treating patients with a rare and serious set of genetic disorders that alters their ability to produce key hormones. In the Phase 3 study, known as CAHtalyst, […]

(Image Credit: ©Anusorn – Adobe.Stock.com) Stuart Therapeutics Inc. has announced that the United States Patent and Trademark Office (USPTO) has issued a U.S. patent with granted claims for compositions of matter and methods of use in a variety of anterior segment indications in ophthalmology. According to a news release, Stuart now controls a total of […]

The rate of infants dying before their first birthday rose slightly in the second year of the COVID pandemic after having fallen every year since 2015, according to new federal data. The Centers for Disease Control and Prevention reported Tuesday that the U.S. infant mortality rate inched from 5.42 deaths per 1,000 live births in […]

The University of California, Davis, exceeded $1 billion in new external research awards in the fiscal year 2022-23 following the record set the previous year. The funding, which totaled $1.006 billion, will enable scientific discoveries and new technologies through research addressing a wide range of needs in human and animal health, digital systems, the environment […]

HistoryCause and symptomsGeneticsEpidemiologyCase seriesDiagnosis and treatmentReferences Incontinentia pigmenti (IP) is a rare multisystemic condition with characteristic skin lesions. Also known as Bloch-Sulzberger syndrome, it affects different sites of the body, including the skin, eyes, hair, teeth, nails, and central nervous system. Incontinentia pigmenti. Image Credit: Sashkin/Shutterstock.com The existence of neurological and/or visual impairment influences the […]

HistoryX-linked intellectual disability (XLID) syndromesCause and symptomsHUWE1 geneEpidemiologyDiagnosis and treatmentReferencesFurther reading Juberg-Marsidi syndrome (JMS) is a rare, multisystem, congenital condition, first noted by Richard Juberg and Irene Marsidi in 1980. Mental retardation, stunted growth, sensory impairments, and microgenitalism are all symptoms of this condition. Juberg-Marsidi syndrome is a recessive X-linked disorder. Image Credit: Anusorn Nakdee/Shutterstock.com […]

Baylor Genetics Announces Neurodevelopmental Disorders Test Panel to Help Healthcare Providers Diagnose Patients with Intellectual Disabilities or Developmental Delays