research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
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330-360 / 1000+ resultsresearch Parental Uveitis Influences Offspring With an Increased Susceptibility to the Experimental Autoimmune Uveitis
Parental uveitis increases offspring's risk and severity of autoimmune eye disease.
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 Primary vitreoretinal lymphoma masquerading as refractory uveitis—just go with the flow
Early and accurate diagnosis of primary vitreoretinal lymphoma is crucial to prevent serious complications.
research A Successfully Treated Case of Criminal Thallium Poisoning
A woman poisoned with thallium was successfully treated with activated charcoal and Prussian blue.
research Paraproteinemic keratopathy: recognizing the ocular significance
Paraproteinemic keratopathy can show eye symptoms before other signs of disease, needing careful treatment and long-term follow-up.
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 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 Brimonidine Beyond a Single Specialty: Pharmacological Profile, Dermatologic Applications, and Advances in Drug Delivery Systems
Brimonidine is effective for reducing facial redness in skin conditions and has potential for broader dermatological uses.
research Hair microscopy: an easy adjunct to diagnosis of systemic diseases in children
Hair microscopy is a simple and cost-effective method to help diagnose systemic diseases in children.
research Evaluation of Retinal Changes in Women with Different Phenotypes of Polycystic Ovary Syndrome
Women with PCOS have distinct retinal changes compared to healthy women.
research Kaposi Varicelliform Eruption in a Patient with Pemphigus Vulgaris: A Case Report and Review of the Literature
A patient with pemphigus vulgaris improved significantly after treatment for an additional viral skin infection.
research Cutaneous sarcoidosis masquerading as papular amyloidosis revealed post--hair removal
Skin problems after waxing led to a sarcoidosis diagnosis.
research Successful treatment of corticosteroid-resistant ophiasis-type alopecia areata (AA) with platelet-rich plasma (PRP)
Platelet-rich plasma (PRP) injections successfully treated a woman's steroid-resistant hair loss, causing hair to regrow within a month.
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 STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Advancements and challenges in stem cell transplantation for regenerative medicine
Stem cell transplantation shows promise for treating diseases but faces challenges like safety, ethics, and cost.
research Demodicosis in Different Age Groups and Alternative Treatment Options—A Review
Demodex mites are common in adults and elderly, emerging in children, and require careful diagnosis and treatment.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research A retrospective analysis of efficacy and safety of intralesional triamcinolone injections in the treatment of frontal fibrosing alopecia either as monotherapy or as a concomitant therapy
Intralesional triamcinolone injections can effectively stop frontal fibrosing alopecia with minimal side effects.
research Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review
DPR can show different hair characteristics, as seen in two brothers with normal hair.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Polycystic Ovary Syndrome and Oxidative Stress—From Bench to Bedside
Oxidative stress worsens PCOS by damaging cells and disrupting metabolism, suggesting antioxidant treatments might help.
research Head and Neck 3D Bioprinting—A Review on Recent Advancements in Soft Tissue 3D Bioprinting and Medical Applications
3D bioprinting offers new ways to treat head and neck defects with bioinks that mimic natural tissues.
research Methotrexate Effectively Controls Ocular Inflammation in Japanese Patients With Non-infectious Uveitis
Methotrexate effectively controls eye inflammation in Japanese patients with non-infectious uveitis but requires careful monitoring for side effects.
research Idiopathic hypoparathyroidism with extensive intracranial calcification in children
An 11-year-old boy in Saudi Arabia has a rare case of hypoparathyroidism with severe brain calcifications but normal development and no known cause.
research Jarilla–Coffea extract: a natural cosmetic product that improves eyelash and eyebrow growth in women
Jarilla-Coffea extract gel effectively and safely increases eyelash and eyebrow thickness in women.
research Severe Acute SARS-CoV-2 Infection and Long COVID: What Do We Know So Far? New Challenges in Diagnosis and Management
Long COVID causes lasting symptoms in many body systems, needing more research for better treatments.
research Reversible Vision Loss with pituitary microadenoma Following PRP Injection for Hair Growth,A Rare Case Report
PRP injections for hair growth can cause temporary vision loss, which may be resolved with treatment.
research P56 Azathioprine-induced alopecia totalis and knuckle hyperpigmentation in a child with uveitis: test before you leap!
Monitor for early signs of azathioprine toxicity and check blood counts regularly.