Orocraniodigital syndrome (OS), also known as Juberg-Hayward syndrome is a rare autosomal recessive condition. Cleft lip is a common observation in orocraniodigital syndrome. Image Credit: PeopleImages.com – Yuri A/Shutterstock.com Multiple abnormalities of the head and face (craniofacial area), as well as the fingers and toes, characterize it. OS is a polymalformative syndrome that includes microcephaly, facial dysmorphism, urogenital anomalies, and […]

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 Only males have all of […]

Menstrual health monitoringManagement of menstrual painFertility trackingPregnancy monitoringBreast healthPostpartum careReferencesFurther reading Empowering women’s health globally is vital to ensuring individuals' well-being and benefits society as a whole. Across the globe, women face inequalities in healthcare. Disparities excess in access to and quality of healthcare provided, marginalized groups of women suffer the worst from gender disparities in healthcare, which often leads […]

Types of recurrent neural networksBidirectional recurrent neural networksLong short-term memoryGated recurrent unitsMedical uses for recurrent neural networksRecurrent neural networks and medical imagingRecurrent neural networks and diagnosticsReferencesFurther reading Recurrent neural networks are a classification of artificial neural networks used in artificial intelligence (AI), natural language processing (NLP), deep learning, and machine learning. They process temporal, sequential data (such as time-series data) […]

Causes and symptomsEpidemiologyCase reportDiagnosis and treatmentReferencesFurther reading Cerebellar agenesis is a condition in which the normal formation of the hindbrain is disrupted. Patients with this disorder have very few pieces of cerebellar tissue – frequently the remains of lower cerebellar peduncles, anterior vermal lobules, and flocculi. Cerebellar agenesis is a condition in which the normal formation of the hindbrain is […]

HistoryCauses and symptomsEpidemiologyCase reports Diagnosis and treatment References Further reading Chanarin-Dorfman syndrome (CDS) is a rare, multisystemic, neutral lipid storage disease (NLSD) where the triglyceride accumulates in the leukocytes and other organs. Image Credit: ART-ur/Shutterstock.com First described by Dorfman in 1974, the syndrome follows an autosomal recessive inheritance pattern. It is caused by a mutation in the ABHD5 gene and is associated […]

Beckwith–Wiedemann syndrome (BWS), the most prevalent epigenetic disorder, has a variety of clinical symptoms, including overgrowth, abdominal wall defects, and predisposition to embryonal tumors. The clinical symptoms of BWS range in severity and are commonly identified neonatally or in early childhood. Image Credit: Marko Poplasen/Shutterstock.com It is a human genomic imprinting disorder linked with changes in chromosome 11. The clinical symptoms […]

A new test for two blood cancers – developed by a team at Washington University School of Medicine in St. Louis – is the first whole-genome sequencing test for cancer to be approved for reimbursement by the Centers for Medicare & Medicaid Services. The test, known as ChromoSeq, advances precision medicine approaches for treating blood cancers by identifying the full […]

Siteman Cancer Center, based at Barnes-Jewish Hospital and Washington University School of Medicine in St. Louis, has earned a prestigious Merit Extension Award from the National Cancer Institute (NCI), part of the National Institutes of Health (NIH). The award extends Siteman’s current Cancer Center Support Grant for an additional two years and provides $12 million to continue NCI support for […]

Treatment for: Skin and Structure Infection Basilea Announces Submission of a New Drug Application to the US Food and Drug Administration for its Antibiotic Ceftobiprole Allschwil, Switzerland, August 04, 2023 — Basilea Pharmaceutica Ltd, Allschwil (SIX: BSLN), a commercial-stage biopharmaceutical company committed to meeting the needs of patients with severe bacterial and fungal infections, announced today that it has submitted […]