research Biotinidase Enzyme Deficiency ( Case Report )
A rare biotin deficiency in an Iraqi family caused severe symptoms but was successfully treated with lifelong biotin.
Search
for
Sort by
Research
840-870 / 1000+ resultsresearch Strontium ranelate promotes chondrogenesis through inhibition of the Wnt/β-catenin pathway
Strontium ranelate helps cartilage growth by blocking a specific cell pathway.
research Pityriasis rubra pilaris: a rare inflammatory dermatosis
An 18-year-old woman was diagnosed with a rare skin condition called Pityriasis rubra pilaris.
research Predictive value of the serum albumin change rate for therapeutic response to targeted therapy in patients with AIDS-related non-Hodgkin lymphoma
The albumin change rate helps predict treatment success in AIDS-related non-Hodgkin lymphoma.
research Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families
Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
research The Case Files
Thyroid storm is hard to diagnose due to vague symptoms but needs urgent attention.
research Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year
Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
research Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome
Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
research Hydroxytyrosol Alleviates Acute Liver Injury by Inhibiting the TNF-α/PI3K/AKT Signaling Pathway via Targeting TNF-α Signaling
Hydroxytyrosol helps reduce liver injury by blocking certain inflammation pathways.
research A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
research STUDIES ON A SKIN CALCIFYING SYSTEM
Mild skin injury can trigger mineral deposits in rat skin, even without full calciphylactic response.
research Skin and metabolic syndrome: A review of the possible associations
Certain medications can impact metabolic syndrome, with some improving conditions like high blood sugar and others having no effect.
research Onychomadesis: A rare adverse effect in early-period valproic acid therapy
Valproic acid can very rarely cause nail separation, which usually gets better on its own after stopping the drug.
research Hidradenitis suppurativa and Mediterranean fever gene mutations
Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
research Part II. Common questions and misconceptions about creatine supplementation: what does the scientific evidence really show?
Creatine monohydrate is safe and effective for muscle recovery and performance, especially for those with low creatine levels.
research PSAT330 Excess Iodine Intake From a Cystic Fibrosis Supplement Induces Symptomatic Hypothyroidism
Excessive iodine from a cystic fibrosis supplement can cause hypothyroidism.
research Rickets with alopecia-remission following a course of 1-?-hydroxy vitamin D3 therapy
Child with rickets improved with a specific vitamin D therapy, but alopecia did not change.
research Mutations in Homocysteine Metabolism Genes Increase Keratin N-Homocysteinylation and Damage in Mice
Genetic mutations that disrupt homocysteine breakdown lead to increased damage in mouse hair keratin.
research GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis
A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
research Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
research Linagliptin-Associated Alopecia and Bullous Pemphigoid
Linagliptin may cause hair loss and skin blisters.
research Addisonian crisis in a young man with atypical anorexia nervosa
A young man with an eating disorder had a life-threatening adrenal crisis due to an autoimmune condition, highlighting the need for better education on managing hormone treatments.
research Multiomic Characterization of Treatment Response to JAK Inhibition in Patients with APECED
Ruxolitinib reduced inflammation and improved symptoms in APECED patients but may cause anemia and weight gain.
research Erythrokeratodermia Variabilis
A 4-year-old girl was diagnosed with erythrokeratodermia variabilis after other treatments failed.
research Complications of Mesotherapy
Mesotherapy can cause serious side effects like infections and skin reactions.
research Case Report: Vitiligo and Alopecia Universalis Following Rituximab Therapy in a Patient with Myasthenia Gravis
Rituximab can cause skin issues, but baricitinib may help improve them.
research A Case of pretibial myxedema with hyperthyroidism
The man had pretibial myxedema and hyperthyroidism, causing skin changes and thyroid issues.
research Lgr6+ cells in the biological system during homeostasis and injury
Lgr6+ cells are important for tissue repair and could be a target for treating cancer and other diseases.
research Creatine phosphokinase levels and isotretinoin therapy
Isotretinoin can raise CPK levels, so patients need monitoring, especially before surgery.
research ADRENAL FAILURE: WHEN ANTIPHOSPHOLIPID SYNDROME LEAVES SCARS
Antiphospholipid syndrome can severely damage adrenal glands, requiring early diagnosis and treatment.