research Difficult-to-Treat Idiopathic Generalized Epilepsy in a Young Woman
The young woman with epilepsy became seizure-free after finding the right combination of medications.
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660-690 / 1000+ resultsresearch Morphological and functional analysis on M3R mediated sweating in TSC1 k/o mouse
Sox13 is a marker for early hair follicle development but not essential for skin and hair growth.
research A previously undescribed cutaneous paraneoplastic syndrome in a cat with thymoma
Thymoma in cats can cause hair loss without inflammation.
research Lupus erythematosus, thyroiditis, alopecia areata and vitiligo – A multiple autoimmune syndrome type 3 case presentation
A 22-year-old with multiple autoimmune diseases needs a multidisciplinary treatment approach.
research A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation
A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
research 874 Mesothelioma of the Tunica Vaginalis Testis: A Clinicopathologic Study of 14 Patients with Evaluation of Markers of Mesothelial Malignancy
Mesothelioma of the tunica vaginalis testis is rare, often high-grade, and has a median survival of about 24 months.
research O19 CYLD cutaneous syndrome tumours demonstrate increased NF-κB signalling and diminished collagen organisation.
Skin tumors with CYLD cutaneous syndrome show more NF-κB activity and less organized collagen.
research Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency
A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
research The atypical ‘hippocampal’ glutamate receptor coupled to phospholipase D that controls stretch‐sensitivity in primary mechanosensory nerve endings is homomeric purely metabotropic GluK2
A special receptor in sensory nerve endings helps control how they respond to stretching.
research Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
A mutation in the KRT86 gene causes hair fragility in a Turkish family.
research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome.
Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
research Reversing wrinkled skin and hair loss in mice by restoring mitochondrial function
Restoring mitochondrial function in mice reversed their skin wrinkling and hair loss.
research Multiple Pilomatrixoma in Turner Syndrome
Multiple pilomatrixoma may indicate Turner syndrome.
research A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance
A new mutation in the KRT86 gene causes a hair disorder with variable expression.
research A Systematic Scoping Review and Conceptual Analysis of New-Onset Fibromyalgia Manifestations After Non-Hospitalized COVID-19: Empirics, Definitions, Methodologies, Pathophysiology, Mapping of Literature, and Knowledge Gaps
New-onset fibromyalgia after COVID-19 is poorly understood and needs more research.
research Correlation of monosynaptic field potentials evoked by single action potentials in single primary afferent axons and their bouton distributions in the dorsal horn
The study found that nerve signals are stronger when there are more connection points, but not necessarily denser, along the nerve's path in the spine.
research Botulinum Toxin Off-Label Use in Dermatology: A Review
Botulinum toxin shows promise for various skin conditions but requires more research for confirmation and standardized use.
research Satoyoshi Syndrome: A Cause of Alopecia Universalis in Association with Neurologic and Bony Abnormalities
Satoyoshi syndrome can cause hair loss and other serious health issues, and is hard to diagnose.
research Follicular mucinosis: A detailed morphologic and immunopathologic study
Benign follicular mucinosis involves immune cells attacking hair follicles.
research Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case
The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
research International Consensus Guidelines on the Safe and Evidence-Based Practice of Mesotherapy: A Multidisciplinary Statement
The guidelines standardize mesotherapy practices for safety and effectiveness in pain, rehabilitation, and skin treatments.
research Novel regenerative medicine approaches with the use of adult mesenchymal stem cells: in vitro and in vivo experimental procedures
Adult mesenchymal stem cells show promise in improving tendon, muscle, and skin healing.
research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research Joint Public Review: Touch receptor end-organ innervation and function require sensory neuron expression of the transcription factor Meis2
Meis2 is essential for touch sensation and nerve function in mice.
research Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
research AM UNUSUAL PRESENTATION OF PILOMATRIXOMA
A painless cheek lump was misdiagnosed but found to be a rare, benign skin lesion called pilomatrixoma, treatable by surgery.
research Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII
Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
research Anhidrotic effect of intradermal injections of botulinum toxin—A comparison of different products and concentrations
Different botulinum toxin products and concentrations can effectively reduce sweating, itching, bladder pressure, hair loss, and muscle spasms.