research FOXN1 Italian Founder Mutation in Indian Family: Implications in Prenatal Diagnosis
A rare genetic mutation found in an Indian family can be detected through prenatal screening.
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research New Changes in Pregnancy and Lactation Labeling: Review of Dermatologic Drugs
The new FDA labeling rules provide more detailed drug safety information for pregnant and breastfeeding women, but more data is needed on the risks of many dermatologic drugs.
research Ptosis in Childhood: Causes, Clinical Presentations, and Management
Childhood ptosis can vary from a minor cosmetic issue to a serious condition and may signal other health problems.
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 NEMO Syndrome (Incontinentia Pigmenti) and Systemic Lupus Erythematosus: A New Disease Association
NEMO syndrome and systemic lupus erythematosus are linked in a new disease association.
research Celsr1 And Celsr2 Exhibit Distinct Adhesive Interactions And Contributions To Planar Cell Polarity
Celsr1 is crucial for skin cell alignment, while Celsr2 has little effect on this process.
research Hemiagenesis of the Thyroid Gland Detected by Coincidence: What Is the Clinical Relevance?
THA is a rare condition with no significant clinical consequences if thyroid function is normal.
research Steroid-Resistant Nephrotic Syndrome Associated with Steroid Sulfatase Deficiency—X-Linked Recessive Ichthyosis: A Case Report and Review of Literature
A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
research Androgen Effects in Mammals
Testosterone is crucial for development, growth, and various body functions in mammals.
research Hair Shaft Structures in EDAR Induced Ectodermal Dysplasia
The EDAR gene mutation leads to thinner and more deformed hair shafts.
research Dermatological Medications and Local Therapeutics During Pregnancy
Use some skin medications with caution during pregnancy; avoid strong steroids, certain eczema treatments, and systemic retinoids, but many topical treatments and nasal sprays are safe.
research Melatonin Receptors and Their Role in Human Diseases
Melatonin receptors, found in many body parts, can help treat various diseases like depression and diabetes due to their effects on inflammation, tumor progression, sleep disorders, and body mass regulation.
research Overview of Various Dermatological Conditions with Complex Classifications
The document describes various skin conditions, their features, and treatments but lacks detailed study size information.
research Hypoparathyroidism as the Single Major Component for Decades of Autoimmune Polyglandular Syndrome Type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
research MendelVar: Gene Prioritization at GWAS Loci Using Phenotypic Enrichment of Mendelian Disease Genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
research Facial Feminization Surgery and Facial Gender Confirmation Surgery
The document concludes that individualized Facial Feminization Surgery plans and comprehensive care are crucial for successful outcomes.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Acne and Acneiform Eruptions
Early treatment of acne is crucial to prevent scarring and psychological effects.
research Hepatitis C-Related Mixed Type Vitiligo in a Patient with Ivemark Syndrome
A patient with Ivemark syndrome developed mixed type vitiligo after a hepatitis C infection, showing different treatment responses and immune cell involvement in the skin.
research Dusko Ilic Explores the Latest Developments in the Field of Stem Cell Research and Regenerative Medicine
Stem cell research and regenerative medicine have made significant advancements in treating various diseases and conditions.
research Clinical Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome Focusing on Lean and Obese Phenotypes: Implications for Cost-Effective Diagnosis and Personalized Treatment
Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.
research Analysis of Androgen Receptor Expression and Activity in the Mouse Brain
Androgen receptors in the mouse brain may explain cognitive and mood changes in prostate cancer treatment.
research Multiple Endocrine Defects in Adult-Onset Sprouty1/2/4 Triple Knockout Mice
Removing Sprouty genes in mice causes various hormone-related issues but does not increase cancer risk by one year of age.
research Enhancing Diagnostic Yield of Monogenic Diabetes Through Phenotypic and Molecular Reanalysis of 128 Individuals With Young Onset Hyperglycemia: Highlighting the Significance of Accurate Case Characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research The Role of Hormonal Imbalances in Amenorrhea
Hormonal imbalances are a key cause of missed menstrual periods in women.
research Increased Expression of TSPEAR in Colorectal Cancer Predicts Poor Prognosis
High TSPEAR levels in colorectal cancer predict worse outcomes.
research Increased Expression of TSPEAR in Colorectal Cancer Predicts Poor Prognosis
High TSPEAR levels in colorectal cancer predict worse outcomes.
research The Laboratory in the Multidisciplinary Diagnosis of Differences or Disorders of Sex Development (DSD)
Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
research Adult Onset Isolated Hypogonadotropic Hypogonadism: A Cause of Secondary Amenorrhea
A 23-year-old woman's missed periods were caused by a rare genetic disorder treated with hormone patches.
research Distinct Tooth Regeneration Systems Deploy a Conserved Battery of Genes
Different fish use the same genes to regrow teeth.