research The clinical features, muscle pathology, and role of autophagy in anti-Ku-positive patients
Anti-Ku antibodies are linked to unique symptoms and may involve autophagy issues.
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240-270 / 1000+ results research Cutaneous manifestations of methylmalonic and propionic acidaemia: a description based on 38 cases
Some children with methylmalonic and propionic acidaemias have skin problems related to their condition and diet.
research Vitamin D-dependent rickets type II. Defective induction of 25-hydroxyvitamin D3-24-hydroxylase by 1,25-dihydroxyvitamin D3 in cultured skin fibroblasts.
Measuring 24-OHase induction helps identify defects in vitamin D processing and predict treatment response.
research Toxicity of the immune suppressant cyclosporin A in the rat
Cyclosporin A is highly toxic to rats, causing severe health issues and death.
research Immune-mediated Coombs negative intravascular haemolysis in systemic lupus erythematosus (SLE)
A woman with lupus had blood cell destruction, treated successfully with medication.
research Adrenoleukodystrophy: A Rare Case Report
Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
research CLINICAL OBSERVATION: HYPONATREMIA ASSOCIATED WITH DIURETIC USE AND URINARY RETENTION IN AN OLDER MAN
Older adults using diuretics should manage water intake carefully to avoid low sodium levels.
research Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix
The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
research Case of Waldenstrom Macroglobulinaemia Mimicking Multiple Myeloma: A Diagnostic Challenge
Waldenstrom’s Macroglobulinaemia can mimic multiple myeloma, so accurate diagnosis is crucial.
research Severe and Fatal Phenobarbitone Eruptions
Phenobarbitone can cause severe and sometimes fatal skin reactions.
research LP-161 Tjalma syndrome (Pseudo-Pseudo Meigs Syndrome): polyserositis with increased CA-125 in patients with systemic lupus erythematosus
Tjalma Syndrome is a rare condition in people with lupus, causing fluid buildup and high CA-125 levels, but not due to tumors.
research Abstract 1677: Epithelial hyperplasia induced by a selective B-Raf inhibitor, WYE-130600
WYE-130600 may cause skin thickening and irritation.
research Newly emerging type B insulin resistance (TBIR) during treatment with eculizumab for AQP4-IgG-positive neuromyelitis optica spectrum disorder (NMOSD): fatal outcome
A patient with a nerve disorder died from infection complications after developing insulin resistance from a treatment.
research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research 5175 A Rare Case of Type B Insulin Resistance Syndrome
Type B Insulin Resistance Syndrome is rare, linked to lupus, and hard to treat due to severe insulin resistance.
research Reporting on Adverse Clinical Events
Some medications and supplements can cause serious side effects, including hair loss, heart rhythm problems, liver injury, and other health issues.
research Drug related lipid metabolism abnormalities: a real-world pharmacovigilance exploratory analysis based on U.S. FDA adverse event reporting system (FAERS)
Many drugs can cause lipid metabolism issues, and labels need better warnings.
research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
research A functional study of a case of glucagonoma exhibiting typical glucagonoma syndrome
A pancreatic tumor caused high glucagon levels and symptoms, but treatment reduced glucagon and shrank liver tumors.
research A failure to relax.
The man had myotonia, which caused delayed hand grip relaxation.
research BH08 Unprovoked pulmonary emboli in a patient with alopecia areata treated with ritlecitinib: a case report
Ritlecitinib may cause serious side effects like blood clots in alopecia areata patients.
research Decision letter: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
research Abdominal Pain in a Young Woman With Systemic Lupus Erythematosus
A young woman with lupus was treated with hydroxychloroquine and prednisone.
research Нарушения фосфорно-кальциевого обмена у детей с хронической болезнью повек
Early phosphorus-calcium disorders in children with chronic kidney disease can lead to bone issues, highlighting the need for early bone density testing.
research Protein kinase C is a key target for attenuation of Leigh syndrome by rapamycin
Rapamycin may help treat Leigh syndrome by targeting protein kinase C.
research Clinical Manifestations and Management of Acute Thallium Poisoning
Thallium poisoning causes pain, hair loss, and nerve issues, treatable with hemoperfusion and hemodialysis.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research Study of Cutaneous Manifestations in End Stage Kidney Disease Undergoing Hemodialysis
Patients on hemodialysis commonly have skin color changes, nail problems, dry skin, and itching.
research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.