1 citations,
January 2024 in “Journal of clinical medicine” Early recognition and treatment of tinea capitis are crucial to prevent severe scalp issues and prolonged therapy.
1 citations,
March 2023 in “European Journal of Human Genetics” The UK's EDS National Diagnostic Service found that early diagnosis, lifestyle advice, and regular check-ups are crucial for managing vascular Ehlers-Danlos syndrome. A combination of losartan and bisoprolol can reduce vascular events, improving survival and quality of life.
36 citations,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
5 citations,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” The research linked PLCD1 gene variants to the development of trichilemmal cysts.
260 citations,
July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
106 citations,
March 2014 in “BioEssays” We need more research to better understand human hair follicle stem cells for improved treatments for hair loss and skin cancer.
1 citations,
August 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” The research created a detailed map of skin cells, showing that certain cells in basal cell carcinoma may come from hair follicles and could help the cancer grow.
January 2024 in “Arquivo Brasileiro de Medicina Veterinária e Zootecnia/Arquivo brasileiro de medicina veterinária e zootecnia” A cat with ear infection and skin issues was successfully treated for Demodex mites using imidacloprid and moxidectin.
18 citations,
January 2020 in “Acta dermato-venereologica” Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
8 citations,
October 2022 in “Cold Spring Harbor perspectives in biology” The document concludes that better understanding the wound microbiome can improve chronic wound care by preserving helpful bacteria and targeting harmful ones.
June 2011 in “Expert Review of Dermatology” Researchers discovered potential origins and new treatments for skin cancer, including biomarkers for melanoma and therapies that reduce tumor growth.
16 citations,
June 2017 in “Advances in Therapy” New treatments for hair loss are showing promise due to better understanding of genetics and the immune system.
4 citations,
January 2011 in “Annals of Dermatology” Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
Ovol2 is crucial for hair growth and skin healing by controlling cell movement and growth.
16 citations,
January 2021 in “Dermatology and therapy” An imbalance in gut bacteria is linked to skin immune diseases and may affect their outcomes and related health issues.
17 citations,
August 2019 in “Frontiers in Immunology” Non-invasive methods show promise for diagnosing skin diseases like psoriasis and lupus but need more research for regular use.
January 2021 in “ABC Heart Failure & Cardiomyopathy” A 90-year-old man was diagnosed with heart failure due to wild-type transthyretin cardiac amyloidosis.
March 2013 in “Actas Dermo-Sifiliográficas” The document concludes that there have been significant improvements in diagnosing and treating skin diseases, including melanoma, with new techniques and therapies.
308 citations,
December 2018 in “PLOS Genetics” The research found that PCOS has common genetic factors regardless of how it is diagnosed and is linked to metabolic and reproductive issues.
23 citations,
January 2005 in “Nihon Ishinkin Gakkai zasshi” Nested PCR can reliably identify fungal infections when traditional methods fail.
20 citations,
February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
11 citations,
September 2010 in “American Journal of Medical Genetics - Part A” A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
7 citations,
December 2014 in “Gynecological Endocrinology” LC-MS/MS is more reliable than immunoassays for diagnosing 21-hydroxylase deficiency.
December 2016 in “Springer eBooks” Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
88 citations,
April 2017 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.
53 citations,
June 2012 in “Annales d'Endocrinologie” The document concludes that recognizing and properly diagnosing lipodystrophy syndromes is crucial for effective management and treatment.
23 citations,
February 2020 in “PLOS genetics” Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
23 citations,
December 2017 in “Scientific Reports” ARL15 is important for fat cell development and the release of the hormone adiponectin.