research Nonclassic Congenital Adrenal Hyperplasia: An Overview
Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.
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research Management of pregnancy in a carrier of the Donohue mutation
Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
research ADVANCES IN FUNCTIONAL NEUROSURGERY – MACHINE LEARNING, NEURAL ENGINEERING AND ROBOTICS IN TREATMENT OF NEURODEGENERATIVE DISORDERS
AI and robotics are improving treatment and monitoring of neurodegenerative disorders like Parkinson's.
research OVERCOMING THE BARRIERS TO EFFECTIVE DRUG DELIVERY TO THE BRAIN
New methods are being developed to improve drug delivery to the brain.
research Cutaneous Lupus Erythematosus
The document concludes that Cutaneous Lupus Erythematosus has different forms, is influenced by genetic and environmental factors, and can be treated with various medications, but more targeted therapies are needed.
research Hoxc13 mutant mice lack external hair
Hoxc13 gene is essential for hair, nail, and papilla development.
research Bridging Anticoagulation
Bridging anticoagulation may raise post-surgery bleeding risks.
research Genetics and Pathophysiology of Congenital Adrenal Hyperplasia
The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research Transplantation immunology: Solid organ and bone marrow
Transplant success has improved with better immunosuppressive drugs and donor matching.
research Protoporphyrin IX: the Good, the Bad, and the Ugly
Protoporphyrin IX is useful in cancer treatment but can cause health problems if not properly regulated.
research 5α-Reduced glucocorticoids: a story of natural selection
Natural 5α-reduced glucocorticoids might be anti-inflammatory with fewer side effects than current options.
research To grow or not to grow: Hair morphogenesis and human genetic hair disorders
Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
research Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
research Characterization of X-Linked SNP genotypic variation in globally distributed human populations
The research concluded that selection significantly shaped the genetic variation of the X chromosome, with certain regions affected by past selective events.
research From gene to therapy in spinal and bulbar muscular atrophy: Are we there yet?
Effective treatments for spinal and bulbar muscular atrophy are not yet available; more research is needed.
research Mutation in 5′ upstream region of GCH I gene causes familial dopa-responsive dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research Frontotemporal dementia with parkinsonism presenting as posterior cortical atrophy
A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
research Selected abstracts from the 47th meeting of the Irish Endocrine Society Sligo, 24th & 25th November 2023
Continuous glucose monitoring and GLP-1 receptor agonists improve diabetes management, but personalized care and education are crucial.
research Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
research Careless talk costs lives: fibroblast growth factor receptor signalling and the consequences of pathway malfunction
Fibroblast growth factor receptor signaling controls cell development and repair, and its malfunction can cause disorders and cancer, but it also offers potential for targeted therapies.
research First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases
Thymus transplantation successfully restored immune function in infants with FOXN1 deficiency.
research Non-Edg family LPA receptors: the cutting edge of LPA research
New LPA receptors (LPA4, LPA5, LPA6) have diverse roles in the body.
research Lamins in development, tissue maintenance and stress
Lamins are vital for cell survival, organ development, and preventing premature aging.
research Alopecia Areata
The document concludes that ongoing research using animal models is crucial for better understanding and treating Alopecia Areata.
research Defining the identity of mouse embryonic dermal fibroblasts
Researchers identified specific genes that are important for mouse skin cell development and healing.
research Great Expectations: Induced pluripotent stem cell technologies in neurodevelopmental impairments
iPSCs help understand and treat neurodevelopmental disorders.
research Proceedings of the RAMI Intern Section Meeting, 18th January 2014
The meeting discussed medical findings, including benefits of certain treatments for cancer and heart conditions, and highlighted issues like poor adherence to preventive measures and skill gaps among interns.
research Industry update: the latest developments in the field of therapeutic delivery, July 2018
New partnerships, clinical trials, and drug approvals marked progress in therapeutic delivery in July 2018.
research A NEW GENERATION OF MARKERS FOR CANCER DETECTION AND DRUG TRANSPORT
New markers can detect tumors, aid drug delivery, and treat cancer effectively and safely.