research Sjogren-Larsson Syndrome: Case Report of a 21-Year-Old Woman
If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
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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 Molecular–Clinical Correlations in a Family with Variable Tissue Mitochondrial DNA T8993G Mutant Load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research Administration of Dutasteride in Animal Models of Retinitis Pigmentosa
Dutasteride potentially improves cell survival and reduces retinal damage in retinitis pigmentosa.
research Cerebellar Hypoplasia, Hypergonadotrophic Hypogonadism, Retinitis Pigmentosa, Alopecia, Microcephaly, Psychomotor Retardation, and Short Stature: D-CHRAMPS Syndrome
"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
research Combined Drug Triads for Synergistic Neuroprotection in Retinal Degeneration
Using three different drugs together may better treat eye diseases like glaucoma and macular degeneration.
research Stem Cells in Dermatology and Anti-Aging Care of the Skin
Using defensins to activate stem cells may improve skin aging signs without causing inflammation.
research Toxic and Metabolic Disorders of the Nervous System
Certain vitamins in wrong amounts, alcohol abuse, metals, and other toxins can cause serious brain and nerve damage.
research Bubble Hair – A Possible Explanation for Its Distribution
Using a blow dryer in a certain way can cause localized hair damage with bubble formation inside the hair.
research Skin Manifestations of Bardet-Biedl Syndrome
Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
research Interventions for Central Serous Chorioretinopathy: A Network Meta-Analysis
The study aims to find the best treatment for central serous chorioretinopathy by comparing various options.
research Melatonin: Functions and Ligands
Melatonin helps regulate sleep and may aid in treating various health issues.
research A Syndrome of Congenital Ichthyosis, Mental Retardation, Myopathy, and Anemia in Dizygotic Twin Sisters
The twins' condition is unique and doesn't match any known syndromes.
research Review of the Effects of 17α-Estradiol in Humans: A Less Feminizing Estrogen with Neuroprotective Potential
17α-estradiol is a safe estrogen that might protect the brain and doesn't cause feminization, needing more research for treating brain diseases.
research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
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 National Scientific Medical Meeting 1996 Abstracts
The document summarizes medical findings on topics like heart rhythm treatment, sleep apnea therapy, and various health conditions and treatments.
research Enzymes
Enzymes are classified into six types and are essential for many biological processes, with only a few targeted by drugs.
research Latest Developments in Stem Cell Research and Regenerative Medicine, September 2016
In September 2016, there were major advancements and promising clinical trials in stem cell research and regenerative medicine.
research Local Heroes or Villains: Tissue-Resident Memory T Cells in Human Health and Disease
Tissue-resident memory T cells can protect against infections and cancer but may also contribute to autoimmune diseases.
research Madarosis, Milphosis, Eyelash Trichomegaly, and Dermatochalasis: Conditions Affecting the Periocular Area
The document concludes that changes in eyelashes and eyelid skin can indicate various local and systemic diseases.
research Development of a Non-Parametric Population Pharmacokinetics Model and Bayesian Estimator for Tacrolimus in Tunisian Renal Transplant Patients
The model and estimator can predict drug exposure in kidney transplant patients well.
research Topical Use of Systemic Drugs in Dermatology: A Comprehensive Review
Using systemic drugs as creams for skin conditions shows promise, but more research is needed to confirm their effectiveness and safety.
research Phenotypic Heterogeneity in Human Genetic Diseases: Ultrasensitivity-Mediated Threshold Effects as a Unifying Molecular Mechanism
Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
research Ichthyosis
The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
research Human Teeth Are Useful Even After They Are Shed: Why Discard Them?
Baby teeth stem cells can potentially grow organs and treat diseases.
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 Familial 1q22 Microduplication Associated With Psychiatric Disorders, Intellectual Disability, and Late-Onset Autoimmune Inflammatory Response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research Congenital Atrichia and Hypotrichosis
The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
research Combination Therapies and the Theoretical Limits of Evidence-Based Medicine
The current system can't fully test all combination treatments, so alternative methods and regulatory flexibility are needed.