research Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome
NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
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research Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Polyzystisches Ovar-Syndrom (PCOS)
PCOS is a common hormonal disorder in women, treated with lifestyle changes and hormonal therapy.
research Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATPChannel Mutations in Intact Cells
Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
research PRIDE syndrome associated with panitumumab treatment – case report and literature review
A man's severe skin reaction from cancer treatment improved with early diagnosis and proper medication.
research Autoimmune polyglandular syndrome type 4 – case report
Patients with one autoimmune disease should be checked for other autoimmune disorders.
research American Association of Clinical Endocrinologists, American College of Endocrinology, and Androgen Excess and PCOS Society Disease State Clinical Review: Guide to the Best Practices in the Evaluation and Treatment of Polycystic Ovary Syndrome - Part 1
The guide recommends specific methods for diagnosing PCOS and various treatments for its symptoms, while considering the health impacts on adolescents.
research Effects of a Postbiotic Saccharomyces and Lactobacillus Ferment Complex on the Scalp Microbiome of Chinese Women with Sensitive Scalp Syndrome
SLFC can improve scalp health and reduce sensitive scalp symptoms.
research Arterielles popliteales Entrapment Syndrom (PAES) — ein Fallbericht zur Differentialdiagnose der Claudicatio intermittens
Popliteal Artery Entrapment Syndrome (PAES) is a rare but possible cause of leg pain during walking, even in untrained women.
research Protein kinase C is a key target for attenuation of Leigh syndrome by rapamycin
Rapamycin may help treat Leigh syndrome by targeting protein kinase C.
research THE PATTERN OF SILVER-RUSSELL SYNDROME: OWN OBSERVATION
A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
research Type 3 autoimmune polyendocrine syndrome (APS) diagnosed in an 87-year-old patient with a concomitant chronic autoimmune urticaria
An 87-year-old woman was diagnosed with type 3 autoimmune polyendocrine syndrome and had multiple autoimmune issues.
research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities
Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
research The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
research Relationship between androgenetic alopecia and cardiovascular risk factors according to BASP classification in Koreans
Hair loss links to high blood pressure, high fat levels, and metabolic issues, suggesting early heart disease screening.
research Update on Hidradenitis Suppurativa (Part I): Epidemiology, Pathogenesis, Severity assessment and Comorbidities
Hidradenitis suppurativa is a chronic skin condition more common in women, linked to genetics and lifestyle factors, and associated with various other health issues.
research Skin, Genetic Defects, and Aging
Genetic defects and UV radiation cause skin damage and aging.
research Androgenetic alopecia as a cardiovascular risk factor
Hair loss may increase heart disease risk.
research Androgen Therapy in Women: A Reappraisal: An Endocrine Society Clinical Practice Guideline
The guidelines advise against using testosterone and DHEA in women for most conditions due to safety and effectiveness concerns, but suggest considering testosterone for postmenopausal women with low sexual desire.
research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
research The hair shaft: normality, abnormality, and genetics
Hair microscopy is useful for diagnosing hair disorders, but clear definitions are needed for accurate genetic analysis.
research Somatization in the dermatology patient: Some sociocultural perspectives
Skin symptoms without a medical cause often reflect psychological stress and are influenced by culture, requiring a team approach for treatment.
research Dermatologic adverse events associated with chemotherapy and targeted anticancer therapy
Cancer treatments often cause skin, nail, and hair problems.
research The Fate of Epidermal Tight Junctions in the stratum corneum: Their Involvement in the Regulation of Desquamation and Phenotypic Expression of Certain Skin Conditions
Tight junctions help control skin shedding and may be targets for treating certain skin conditions.
research SZTUCZNA INTELIGENCJA W LECZENIU STOPY CUKRZYCOWEJ
AI can improve early diagnosis and treatment of diabetic foot complications but requires addressing training and ethical challenges.
research EX VIVO DRUG SENSITIVITY EVALUATION OF A RARE ZMYM2::FGFR1+ LEUKEMIA PATIENT
Pemigatinib may be effective for treating ZMYM2::FGFR1 fusion-positive leukemia.
research SKUTECZNOŚĆ STOSOWANIA PROBIOTYKÓW ZAWIERAJĄCYCH LACTOBACILLI W LECZENIU ZESPOŁU JELITA DRAŻLIWEGO U DZIECI
Probiotics with Lactobacillus reuteri improve IBS symptoms in children.