research Unraveling the impact of miRNAs on gouty arthritis: diagnostic significance and therapeutic opportunities
miRNAs could help diagnose and treat gouty arthritis.
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360-390 / 1000+ results research Cronkhite–Canada Syndrome With Multiple Mesenteric Lymphadenopathy: A Case Report
Early diagnosis and treatment with corticosteroids can improve outcomes in Cronkhite–Canada syndrome.
research Pancreatogenic type 3C diabetes
Type 3C diabetes is a distinct condition needing more research and treatment strategies.
research Monilethrix, a rare inherited hair shaft disorder in siblings
Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
research A Case to Tear One's Hair Out: Trichotillomania in Wilson's Disease
A patient with Wilson's disease showed hair-pulling behavior as an initial symptom.
research P-017 CUSHING'S SYNDROME DUE TO PRIMARY BILATERAL MACRONODULAR ADRENAL HYPERPLASIA AND METACRONOUS PHEOCHROMOCYTOMA
A rare case of Cushing's syndrome and pheochromocytoma requires careful re-evaluation to avoid complications.
research Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
research Mesenchymal stem cell therapy for liver disease: full of chances and challenges
Mesenchymal stem cell therapy shows promise for liver disease but faces challenges in standardization and approval.
research Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
research Twenty nail onychomadesis: An unusual finding in Cronkhite–Canada syndrome
A man with Cronkhite-Canada syndrome had all 20 nails detach but improved with treatment.
research Progressive Motor Regression in a 3-Year-Old: Dietary Trends Revive an Overlooked Diagnosis
A 3-year-old girl presented with progressive lower extremity motor regression, limb pain, and inability to bear weight, initially suspected to be due to a pinched nerve or hypothyroidism. Despite normal imaging and lab results, her symptoms persisted, leading to a diagnosis of scurvy, a rare condition caused by severe vitamin C deficiency. This was attributed to her selective eating habits and a strict vegan diet, which lacked sufficient vitamin C. After vitamin C supplementation, her symptoms rapidly improved. The case underscores the importance of considering dietary habits in diagnosing nutritional deficiencies and highlights the role of multidisciplinary teams in patient care.
research Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
research Pernicious anemia in a patient with Type 1 diabetes mellitus and alopecia areata universalis
Patients with Type 1 diabetes should be screened for pernicious anemia.
research Multiple Autoimmune Syndrome With Alopecia Universalis and Immune Thrombocytopenic Purpura
A man with four autoimmune diseases suggests a new category for multiple autoimmune syndrome.
research The Influence of the MDR1 C3435T Polymorphism on Methotrexate Responsiveness in Rheumatoid Arthritis Patients
The MDR1 C3435T polymorphism does not significantly affect methotrexate response in rheumatoid arthritis patients.
research Erythrocyte deformability and hereditary elliptocytosis
Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
research Mycophenolate mofetil as an alternative treatment for autoimmune hepatitis
Mycophenolate mofetil can effectively treat autoimmune hepatitis when standard drugs fail.
research Satoyoshi syndrome: A rare multisystemic disorder requiring systemic and symptomatic treatment
A patient with Satoyoshi syndrome improved with a treatment combining several medications, including carbamazepine and methotrexate.
research Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research Inhibition of 3‐methylcrotonyl‐CoA carboxylase explains the increased excretion of 3‐hydroxyisovaleric acid in valproate‐treated patients
Valproic acid treatment increases a specific acid in urine by blocking an enzyme, possibly causing skin rash and hair loss.
research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
research Hair Tissue Mineral Analysis and Metabolic Syndrome
research GLOMERULAR MEMBRANOUS NEPHROPATHY AND WERNER SYNDROME: A CASE REPORT
A potential genetic link between Werner syndrome and kidney disease was suggested.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
research Amyopathic dermatomyositis presenting as severe alopecia and prominent eyelid edema: a case report and literature review
Accurate diagnosis is crucial for effectively treating severe alopecia and related symptoms.
research Folliculotropic mycosis fungoides with central nervous system involvement: Demonstration of tumor clonality in intrafollicular T cells using laser capture microdissection
Folliculotropic mycosis fungoides can affect the central nervous system in advanced stages.
research Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
research Correlation between Traditional Chinese Medicine Syndromes and Type 2 Myocardial Infarction in Critically Ill Patients with Pulmonary Disease
Patients with deficiency syndrome, especially qi deficiency, have a higher risk of type 2 heart attacks.