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.
Search
for
Sort by
Research
720-750 / 886 results
research MTORC1 Activity Negatively Regulates Human Hair Follicle Growth and Pigmentation
High mTORC1 activity slows hair growth and causes it to lose color.
research Southern African HIV Clinicians Society Gender-Affirming Healthcare Guideline for South Africa
The guideline provides healthcare professionals in South Africa with instructions for comprehensive, multidisciplinary gender-affirming care, including HIV prevention and treatment for transgender and gender diverse individuals.
research The Reduction of Male Lower Urinary Tract Symptoms Is Associated With a Decreased Risk of Death
Improving symptoms of male urinary problems may lower the risk of death.
research Industry Updates from the Field of Stem Cell Research and Regenerative Medicine in December 2019
Significant progress and collaborations in stem cell research and regenerative medicine were made, including advancements in hair growth, cancer therapies, and treatments for neurological disorders.
research Assessment of the Nutritional Status of Internally Displaced School Children in the West and Littoral Regions of Cameroon
Many displaced schoolchildren in Cameroon are malnourished, with high rates of thinness, stunting, underweight, and deficiencies in iron and protein.
research Investigation, Treatment, and Monitoring of Late-Onset Hypogonadism in Males: ISA, ISSAM, and EAU Recommendations
Testosterone treatment for older men can have short-term benefits, but long-term risks are unclear, requiring careful evaluation and monitoring.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Investigation, Treatment, And Monitoring Of Late-Onset Hypogonadism In Males: ISA, ISSAM, And EAU Recommendations
Men with low testosterone should be carefully evaluated and monitored before and during treatment.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
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 Expanding the Phenotype: Four New Cases and Hope for Treatment in Bachmann-Bupp Syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research An Early Diagnosis of Trichorhinophalangeal Syndrome Type 1: A Case Report and Review of Literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
research New Case of Trichorhinophalangeal Syndrome-Like Phenotype with a De Novo t(2;8)(p16.1;q23.3) Translocation Which Does Not Disrupt the TRPS1 Gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Symptomatic Hypercalcemia and Scarring Alopecia as Presenting Features of Sarcoidosis
Sarcoidosis can cause severe high calcium levels, hair loss, and kidney failure.
research Primary Essential Cutis Verticis Gyrata: A Case Report With a Review of Literature
Primary essential CVG is a rare, benign scalp condition with treatment focusing on symptom management and hygiene.
research Cutaneous Signs of Malnutrition Secondary to Eating Disorders
Eating disorders can cause skin problems, which may help with early diagnosis and treatment.
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
research Hair-Raising
research Cutaneous and Oral Mucosal Lesions in Cri-du-chat Syndrome
Cri-du-chat syndrome can cause skin and oral lesions affecting nutrition and quality of life.
research Autoimmune Diseases and Acquired Von Willebrand Disease in Two Cases of Progeria
Premature aging increases the risk of immune problems and autoimmune diseases.
research Blinded, Randomized, Quantitative Grading Comparison of Minimally Invasive, Fractional Radiofrequency and Surgical Face-Lift to Treat Skin Laxity
Surgical face-lifts are more effective, but fractional radiofrequency is a good, less invasive alternative for treating skin laxity.
research Interventions for Central Serous Chorioretinopathy: A Network Meta-Analysis
No single treatment is clearly effective for central serous chorioretinopathy.
research RASopathic Skin Eruptions During Vemurafenib Therapy
Vemurafenib causes skin side effects similar to RASopathies, requiring regular skin checks and UVA protection.
research Cluster Headache: Acute and Prophylactic Therapy
Sumatriptan injections, high-flow oxygen, and verapamil effectively treat cluster headaches.
research Germline Mutation in ATR in Autosomal-Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
research Who Do We Invent For? Patents by Women Focus More on Women’s Health, but Few Women Get to Invent
Women inventors focus more on women's health, but there are few of them.
research Clobetasol Propionate, 0.05%, vs Hydrocortisone, 1%, for Alopecia Areata in Children
Clobetasol propionate, 0.05%, is more effective and safe for treating childhood alopecia areata than hydrocortisone, 1%.
research Lichen Planopilaris: Retrospective Study and Stepwise Therapeutic Approach
No treatment showed clear superiority for lichen planopilaris.
research Alopecia Universalis Successfully Treated With Adalimumab
A woman with severe hair loss was successfully treated with the drug adalimumab.