research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
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120-150 / 1000+ resultsresearch Recombinant Thrombomodulin Used to Successfully Treat Cronkhite-Canada Syndrome with Disseminated Intravascular Coagulation due to Sepsis in a Compromised Patient
Recombinant thrombomodulin can effectively treat severe complications in Cronkhite-Canada syndrome.
research 66-Year-Old Woman With Painless Vesicular Lesions
A woman was diagnosed with porphyria cutanea tarda and improved with phlebotomy and lifestyle changes.
research Vogt-Koyanagi-Harada Disease with Oral Manifestations: A Rare Case Report
VKHD can include rare oral symptoms like discolored teeth.
research Hereditary vitamin D rickets: a case series in a family
Three siblings with a genetic form of rickets showed different symptoms of the disease.
research Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
research Viremia and viruria of trichodysplasia spinulosa‐associated polyomavirus before the development of clinical disease in a kidney transplant recipient
The virus linked to a rare disease was found in a patient's blood and urine before skin symptoms appeared.
research Ankle Range of Motion, Leg Pain, and Leg Edema Improvement in Patients With Venous Leg Ulcers
Compression therapy improved ankle movement, reduced leg swelling, and lessened pain in patients with venous leg ulcers.
research Alopecia areata does not increase the risk of venous thromboembolism: an All of Us case-control study
Alopecia areata does not increase the risk of blood clots.
research Acute telogen effluvium due to Dengue fever mimicking androgenetic alopecia
research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
HVDRR is caused by VDR gene mutations, leading to vitamin D resistance, treatable with high calcium doses, but alopecia remains permanent.
research Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities
Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
research Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function
A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
research INNOVATIVE THERAPIES IN REGENERATIVE MEDICINE AND TRANSPLANTATION
DEC cells show promise as a safe and effective treatment for Duchenne muscular dystrophy.
research PD49-03 IS TADALAFIL ASSOCIATED WITH DECREASED RISK OF MAJOR ADVERSE CARDIAC EVENTS OR VENOUS THROMBOEMBOLISM IN MEN WITH LOWER URINARY TRACT SYMPTOMS?
Tadalafil may reduce the risk of major heart events and blood clots in men with urinary symptoms.
research Treatment of discoid lupus erythematosus scarring alopecia with deucravacitinib: A case report
Deucravacitinib helped regrow hair and reduce plaques in a woman with discoid lupus erythematosus without side effects.
research Vitamin D Receptor Gene Polymorphism In Chronic Telogen Effluvium; A Case-Control Study
Certain gene variations in the Vitamin D receptor may increase the risk of chronic hair loss.
research THE HEART OF IT ALL: DILATED CARDIOMYOPATHY AS THE INITIAL PRESENTATION OF ANTIPHOSPHOLIPID SYNDROME
Middle-aged women with dilated cardiomyopathy should be screened for antiphospholipid syndrome.
research SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
research Fat grafting and platelet‐rich plasma for the treatment of diabetic foot ulcers: A feasibility‐randomised controlled trial
Fat grafting and PRP are safe for diabetic foot ulcers, but no significant healing differences were found.
research Traumatic scalp arteriovenous fistula post capillary implantation successfully treated using PHIL embolic agent
A scalp blood vessel issue from hair transplant was successfully treated with a special liquid agent.
research Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
research Drugs affecting blood coagulation, fibrinolysis, and hemostasis
Some blood-thinning medications can increase the risk of bleeding, and certain factors like genetics and other health conditions affect their safety and effectiveness.
research Cutaneous thrombosis and ANCA-positive vasculitis associated with propylthiouracil therapy
Propylthiouracil, a thyroid medication, can cause skin blood clots and immune-related blood vessel inflammation.
research Effects of prasugrel versus clopidogrel on coronary microvascular function in patients undergoing elective percutaneous coronary intervention: A randomized double-blind study
Prasugrel is better than clopidogrel at preventing heart damage and improving blood flow in small heart vessels during heart artery procedures.
research DELIRIUM WITHOUT FOCAL SIGNS RELATED TO A THALAMIC STROKE
Thalamic stroke can cause delirium without other symptoms, especially in older adults.
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research Cutaneous adverse reactions associated with enfortumab vedotin: a pharmacovigilance study based on the FDA adverse event reporting system
Enfortumab vedotin can cause skin issues, especially in older males, needing early monitoring.
research Peripheral Arterial Disease: Diagnosis and Management
Early recognition and treatment of Peripheral Arterial Disease is crucial to improve survival and health outcomes.
research Pharmacokinetics, toxicity, and activity of intravenous dextran sulfate in human immunodeficiency virus infection
Dextran sulfate was found to be toxic and ineffective for treating HIV.