research Mixed Connective Tissue Disease (MCTD) in a Girl with Lower Extremities Edema: A Brief Report
MCTD should be considered in children with recurring muscle issues, lupus-like symptoms, and edema.
Search
for
Sort by
Research
390-420 / 1000+ results 
research Follicular dysplasia in five Weimaraners
Five Weimaraners had a milder form of color dilution alopecia causing hair loss and skin issues.
research Differentiation of Human Dermal Mesenchymal Stem Cells into Cardiomyocytes by Treatment with 5-Azacytidine: Concept for Regenerative Therapy in Myocardial Infarction
Skin stem cells were turned into heart cells using a chemical, suggesting a new way to treat heart attacks.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research Case 6
The dog has Color Dilution Alopecia, causing hair loss and increased risk of skin infections.
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 Clinical Presentation and Diagnosis of Multisystemic Eosinophilic Epitheliotropic Disease in a Miniature Donkey: A Case Report
The donkey had a severe disease affecting multiple organs and was euthanized.
research SAT-510 Association of Myotonic Dystrophy with Autoimmune Endocrinopathies and Thyroid Carcinoma
A patient with myotonic dystrophy had several autoimmune disorders and thyroid cancer, suggesting a possible link between these conditions.
research Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
research A failure to relax.
The man had myotonia, which caused delayed hand grip relaxation.
research Abstract 13315: Recurrent Cardiac Tamponade Due to Minoxidil Associated Drug Induced Lupus Erythematosus
Minoxidil can cause a rare but serious condition that leads to fluid buildup around the heart and drug-induced lupus.
research Association Between ACE I/D Gene Polymorphism and Dyslipidemia in Hypertensive Patients with Ischemic Heart Disease Complication Among Ethiopian Population
Certain genes and high cholesterol levels increase heart disease risk in Ethiopian patients with high blood pressure.
research The circular RNA circNlgnmediates doxorubicin-inducedcardiac remodeling and fibrosis
A specific RNA, circNlgn, contributes to heart damage and scarring caused by the cancer drug doxorubicin.
research 원저 : 피부근염의 임상적 고찰
Most patients with dermatomyositis had skin rash and were treated with prednisolone and hydroxychloroquine.
research Independent DSG4 frameshift variants in cats with hair shaft dystrophy
Cats with abnormal hair had DSG4 gene changes causing hair problems.
research P050 Rapidly worsening subcutaneous oedema in a young boy: a case of juvenile dermatomyositis
Juvenile dermatomyositis can worsen quickly and needs strong treatment.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Chronic urticaria versus dermatomyositis in a case of T- cell large granular lymphocytic leukemia
The muscle damage was caused by T-cell large granular lymphocytic leukemia, not dermatomyositis.
research Hoffman syndrome with the classic sign of myoedema and an unusual finding of systolic heart failure
Thyroid hormone therapy effectively treated the man's rare muscle and heart issues.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research A Case of a 50-Year-Old Female with Dermatomyositis Secondary to a Paraneoplasm (Infiltrating Ductal Carcinoma, Grade 2)
A 50-year-old woman with breast cancer developed an autoimmune skin disorder, highlighting the need for thorough checks and team-based treatment.
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 MULTIPLE HEMANGIOMAS OF THE TONGUE AND ORAL CAVITY IN A MYOTONIC DYSTROPHY TYPE 1 PATIENT: A CASE REPORT
A patient with Myotonic dystrophy type 1 had multiple tongue hemangiomas and was sensitive to anesthesia.
research INNOVATIVE THERAPIES IN REGENERATIVE MEDICINE AND TRANSPLANTATION
DEC cells show promise as a safe and effective treatment for Duchenne muscular dystrophy.
research 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis
A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
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 HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice
The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
research Primary Follicular Dystrophy With Scarring Dermatitis in C57BL/6 Mouse Substrains Resembles Central Centrifugal Cicatricial Alopecia in Humans
Certain mouse strains develop a skin condition similar to a human hair loss disease due to genetic defects.
research Mast cell hyperplasia in the skin of Dsg4-deficient hypotrichosis mice, which are long-living mutants of lupus-prone mice
A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
research Profound bradycardia after addition of diltiazem to a beta blocker.
Adding diltiazem to a beta blocker can cause dangerously slow heart rates.