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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240-270 / 354 resultsresearch Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
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 Optical Coherence Tomography Angiography Findings in Polycystic Ovary Syndrome
Women with PCOS have thicker parafoveal areas in their retinas, but their macular blood vessel density is normal.
research Non-Biologic Immunosuppressive Drugs for Inflammatory and Autoimmune Skin Diseases
Non-biologic immunosuppressive drugs are crucial for treating autoimmune and chronic inflammatory skin diseases.
research First-In-Man Clinical Trial of the Oral Pan-AKT Inhibitor MK-2206 in Patients With Advanced Solid Tumors
MK-2206 was safe and effectively blocked AKT signaling in cancer patients, warranting more trials.
research Understanding, Recognizing, and Managing Toxicities of Targeted Anticancer Therapies
Targeted anticancer therapies can cause severe side effects similar to traditional chemotherapy, but with different types.
research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research Lichen Planopilaris and Frontal Fibrosing Alopecia: Review and Update of Diagnostic and Therapeutic Features
The document concludes that more research is needed to find effective treatments for Lichen planopilaris and Frontal fibrosing alopecia.
research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
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 Cyclosporine A-Induced Intracranial Thrombotic Complications: Systematic Review and Case Report
Cyclosporine-A can cause serious blood clots in the brain, so patients need careful monitoring.
research Cellular Senescence and Aging in Myotonic Dystrophy
Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
research Novel Application of Light-Emitting Diode Therapy in the Treatment of Eyebrow Loss in Frontal Fibrosing Alopecia
LED therapy can safely and effectively regrow eyebrows in people with frontal fibrosing alopecia.
research Differential Diagnosis of Headache and Vertigo: Topical Minoxidil Self-Medication Should Be Considered
Discontinuing topical minoxidil can resolve headaches and dizziness.
research Intraoperative Iris Behavior During Phacoemulsification Maneuvers in Rabbits Treated with Selective Alpha-1 Blocker, 5-Alpha-Reductase Inhibitor, or Anxiolytic Medication
Tamsulosin increases the risk of floppy iris during eye surgery.
research 26-Year-Old Man With New Abdominal Pain
A gluten-free diet fixed a man's severe stomach pain and bowel issue related to celiac disease, but not much his hair loss.
research Acquired Trichomegaly with Topiramate
A woman's eyelashes grew thicker and longer after taking topiramate, but returned to normal when she stopped the medication.
research Risk Factors, Prevalence, and Diagnosis of Hutchinson-Gilford Syndrome with Special Reference to Case Reports
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
research Substance P in Keratosis Follicularis Spinulosa Decalvans
Substance P may play a role in the inflammation seen in keratosis follicularis spinulosa decalvans.
research Finasteride-Induced Pseudoporphyria
Finasteride caused blisters on hands and feet.
research Office Management of the Adolescent with Diabetes Mellitus
The document recommends a team-based approach and personalized care for managing diabetes in teenagers.
research Flap Advancement Technique for Scalp Hair Preservation in Massive Cutis Verticis Gyrata
The flap advancement technique effectively treats severe scalp skin conditions, preserving hair and improving appearance.
research Bilateral Nevus Comedonicus of the Eyelids: An Unusual Cause of Ptosis and Ectropion
A rare skin condition caused droopy and outward-turning eyelids in a patient.
research Toxic Epidermal Necrolysis: A Review of Etiology, Diagnosis, and Management
Toxic epidermal necrolysis is a severe skin condition often caused by drugs, with complex treatment and a high risk of death, but survivors usually heal without scars.
research Dermatologic Care for Lesbian, Gay, Bisexual, and Transgender Persons
LGBT individuals have unique skin health needs, including higher STD risks and side effects from gender-affirming treatments, requiring dermatologists to offer knowledgeable and culturally competent care.
research Management of Refractory Skin Disease in Patients with Lupus Erythematosus
The document concludes that treating tough skin disease in lupus involves sun protection, steroids, antimalarials, and various other therapies chosen based on individual risks and benefits.
research Ocular Manifestation in Progeria: A Case Report
A boy with progeria had eye problems and signs of aging like hair loss and skin wrinkling.