research Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
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120-150 / 1000+ results research Diagnosis dan Penanganan TB-IRIS Paradoksikal
Early detection, prevention, and proper management can reduce TB-IRIS complications and deaths in HIV patients.
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.
research 8507 Misdiagnosis of Graves’ and RAI Treatment in Patient with THRB Gene Mutation
Misdiagnosis led to unnecessary treatment due to a genetic mutation affecting thyroid hormone resistance.
research Transcranial photobiomodulation for brain diseases: review of animal and human studies including mechanisms and emerging trends
Light therapy on the brain shows promise for treating brain diseases and improving brain function.
research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
research Biotin and biotinidase deficiency
Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
research Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities
Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
research Biotinidase deficiency: a survey of 10 cases.
Biotin treatment improves symptoms of biotinidase deficiency, but some neurological damage may be permanent.
research Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
research Novel association of trichothiodystrophy with autoimmune thyroiditis and autoimmune hemolytic anemia: A case report
A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
research Effects of Testosterone+Finasteride on Bone After Spinal Cord Injury: A Randomized, Double-Blind, Placebo-Controlled Pilot Study
Testosterone plus finasteride increases bone density in men with spinal cord injuries.
research Late presentation of biotinidase deficiency with acute visual loss and gait disturbance
Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.
research Diagnosis dan Tata Laksana Post-Traumatic Stress Disorder
Proper management of PTSD with psychotherapy and medication can reduce symptoms.
research Biotin deficiency complicating parenteral alimentation: Diagnosis, metabolic repercussions, and treatment
Biotin deficiency in patients on total parenteral nutrition can cause serious symptoms but can be treated with biotin supplements.
research Effects of Testosterone+Finasteride On Muscle After Spinal Cord Injury: A Randomized Double-Blind, Placebo-Controlled Pilot Study
Testosterone and finasteride improve muscle strength and size after spinal cord injury.
research Trichothiodystrophy in a child with occult learning disorder
Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
research Hypopigmented facial lesions: a case of eruptive tumor of follicular infundibulum
Consider TFI in facial hypopigmentation diagnoses and confirm with a biopsy.
research Trichothiodystrophy without associated neuroectodermal features in two siblings
Two sisters had a rare hair condition without other usual symptoms.
research GASTROINTESTINAL TUBERCULOSIS PRESENTING AS INTESTINAL OBSTRUCTION IN A 16-YEAR-OLD FILIPINO WITH PEDIATRIC SYSTEMIC LUPUS ERYTHEMATOSUS
Early recognition and management of gastrointestinal tuberculosis in lupus patients are crucial to prevent complications.
research Ocular aspects in biotinidase deficiency Clinical and genetic original studies
Early diagnosis and treatment of biotinidase deficiency are crucial to prevent vision problems.
research Biotinidase Enzyme Deficiency ( Case Report )
A rare biotin deficiency in an Iraqi family caused severe symptoms but was successfully treated with lifelong biotin.
research Musculoskeletal and body composition response to high-dose testosterone with finasteride after chronic incomplete spinal cord injury—a randomized, double-blind, and placebo-controlled pilot study
Testosterone with finasteride improved muscle and bone health in men with spinal cord injury.
research TNF ‐inhibitor associated psoriatic alopecia: Diagnostic utility of sebaceous lobule atrophy
Shrinking of oil glands in the skin is a key sign of hair loss linked to TNF inhibitor drugs and may improve if the treatment is stopped.
research Breast Implant-Associated Immunological Disorders
Breast implants are linked to autoimmune symptoms, with over half of patients feeling better after removal, but the exact cause is unclear and may involve bacterial biofilm.
research P326: Cardiovascular features in adult individuals affected with Tatton-Brown-Rahman syndrome
Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
research Temporal triangular alopecia: Trichoscopic diagnosis
Trichoscopy helps accurately diagnose temporal triangular alopecia.
research Testosterone+Finasteride Improves Body Composition After Spinal Cord Injury: A Randomized, Double-Blind, Placebo-Controlled Pilot Study
Testosterone and finasteride improve body composition in men with spinal cord injury.
research Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review
TTD symptoms vary widely, requiring thorough evaluations.
research COVID-19 Infection and Vaccination Effects on Breast Implant Illness: A Case Report
Removing breast implants resolved the patient's symptoms.