research Syndactyly Type III and Hypotrichosis in Oculodentodigital Syndrome with GJA1 Mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
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870-900 / 1000+ results research Faculty Opinions Recommendation of Post-Finasteride Syndrome: A Surmountable Challenge for Clinicians
Clinicians need to better understand and treat Post-finasteride syndrome.
research The Rotterdam Study: 2010 Objectives and Design Update
The Rotterdam Study aims to understand various diseases in older adults.
research Biotin And Biotinidase Deficiency
Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
research Clinical and Neuropathogenetic Aspects of Human African Trypanosomiasis
The document concludes that diagnosing and treating Human African Trypanosomiasis is challenging, but new treatments like fexinidazole are promising.
research Liver Transplantation for Propionic Acidemia in Children
Liver transplantation is a viable option for children with propionic acidemia, improving quality of life and diet, but does not remove all risks and long-term brain outcomes are uncertain.
research Monitoring of Clinical Signs in Goats with Transmissible Spongiform Encephalopathies
Goats with BSE or scrapie show varying symptoms, and using only clinical signs may not detect all scrapie cases.
research Expansion of the Spectrum of ITGB6-Related Disorders to Adolescent Alopecia, Dentogingival Abnormalities, and Intellectual Disability
A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
research A Japanese Case of Ichthyosis Follicularis with Atrichia and Photophobia Syndrome with an MBTPS2 Mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency
A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
research Outbreak of Thallium Poisoning Among Iraqi Patients
Thallium poisoning from contaminated cake caused severe health issues in Baghdad, highlighting the need to ban thallium as a rodenticide.
research Haff Disease Associated With The Ingestion Of The Freshwater Fish Mylossoma Duriventre (Pacu-Manteiga)
Eating pacu-manteiga fish can cause Haff disease, leading to severe muscle damage.
research Editorial: Mesenchymal Stromal Cell Therapy for Regenerative Medicine
Mesenchymal stromal cell therapies show promise for treating various diseases but need more research and standardization.
research Polyglandular Autoimmune Syndrome Type 4 with GAD Antibody and Dystonia
Dystonia may be part of PAS-4 and linked to immune issues.
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 Dermatological Problems Following Spinal Cord Injury in Korean Patients
Most spinal cord injury patients in Korea experience skin problems, especially fungal infections and eczema, affecting their quality of life.
research Hyperammonemic Encephalopathy Without Hepatic Dysfunction Due to Treatment With Valproate: Four Cases and a Mini Review
Valproate can cause brain swelling with high ammonia levels, possibly underreported, especially in psychiatric patients.
research Genotype Triad for HOTAIR rs10783618, LINC-ROR rs1942347, and MALAT1 rs3200401 as Molecular Markers in Systemic Lupus Erythematosus
Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
research Anagen Effluvium Due to Thallium Poisoning from Chinese Herbal Medicine and Rodenticide Containing Thallium Salts
A woman and her daughter had thallium poisoning from a herbal drink and rodenticide, causing hair loss and other symptoms.
research The Biomedical Role of Zinc in the Functioning of the Human Organism
Zinc is essential for many body functions and imbalances can lead to health problems.
research Short-Term Side Effects of Low Dose Valproate Monotherapy in Epileptic Children: A Prospective Study
Low dose valproate in epileptic children mainly causes weight gain and other non-life-threatening side effects.
research Rheumatologic Manifestations of Pregnancy
Pregnancy can cause symptoms similar to rheumatic diseases, making diagnosis difficult, and affects various body systems, requiring careful distinction between normal changes and serious conditions.
research Muscle Weakness of the Lower Limbs After Epidural Anesthesia in a Pregnant Woman With Undiscovered Systemic Lupus Erythematosus
Undiagnosed lupus can cause severe complications after epidural anesthesia, leading to muscle weakness and potentially death.
research Beneficial Effects of Zinc on Reducing Severity of Depression
Zinc helps reduce the severity of depression.
research Linear Morphea Alopecia: New Trichoscopy Findings
Trichoscopy can reveal specific hair and scalp changes in linear morphea.
research Congenital Atrichia Associated With Nevus Flammeus: A Rare Association
A person was born with both a rare hairless condition and a type of birthmark, which is an uncommon combination.
research NF-κB in Biology and Targeted Therapy: New Insights and Translational Implications
NF-κB signaling is crucial in many diseases and can be targeted for new treatments.
research Peripheral Neuropathy Associated with Tofacitinib Use in Alopecia Universalis
A patient developed nerve problems as a side effect of a hair loss treatment called tofacitinib.
research Hair That Is Difficult to Manage in a Hispanic Girl
A 9-year-old Hispanic girl has Uncombable Hair Syndrome, which may improve with age and biotin treatment.
research Steroid Responsive Mononeuritis Multiplex in the Cronkhite-Canada Syndrome
Steroid treatment improved both gut and nerve symptoms in a man with Cronkhite–Canada syndrome.