4 citations,
October 2018 in “International Braz J Urol” Taking 5-alpha reductase inhibitors does not increase the risk of breast cancer in men.
3 citations,
February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
2 citations,
August 2020 in “JCRPE” A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.
2 citations,
April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
2 citations,
January 2018 in “Elsevier eBooks” Targeted therapies for lung cancer are effective but require careful management of side effects to benefit patients.
2 citations,
November 2011 in “InTech eBooks” Most adrenal cortex tumors are benign and non-secreting, but proper diagnosis and treatment are important due to the rare possibility of cancer.
2 citations,
January 2002 in “Hormone Research in Paediatrics” Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
1 citations,
July 2012 in “British Journal of Dermatology” New treatments and management strategies for skin conditions like melanoma and Spitz naevi were discussed at the dermatologists' meeting.
June 2024 in “Research Square (Research Square)” Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.
August 2023 in “Research Square (Research Square)” Personalized thiopurine dosing based on NUDT15 genotyping can improve long-term outcomes for ulcerative colitis and Crohn's disease patients.
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
January 2022 in “Al-Azhar Medical Journal” Higher antigliadin antibody levels are linked to alopecia areata severity.
June 2021 in “EBioMedicine” The authors maintain that shorter androgen receptor alleles may lead to milder COVID-19 by positively affecting the immune response, not due to changes in testosterone levels or activity.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
August 2018 in “Pediatric Dermatology” A baby had a unique skin condition with a pale patch and surrounding dark hairs, not linked to other health issues.
September 2017 in “Pediatric Dermatology” The document concludes that an experimental drug may help wound healing in Epidermolysis Bullosa, links Hydroa vacciniforme to EBV, discusses diagnosing hair loss disorders, finds many children with eczema have allergies, reviews the safety of a skin medication in children, notes side effects of a Duchenne's treatment, and identifies a marker for pediatric mastocytosis.
February 2017 in “Cancer Causes & Control” Swedish men with the E213 A-allele of the androgen receptor have a lower risk of prostate cancer.
July 2014 in “Plastic and Reconstructive Surgery” The document concludes that rib-sparing techniques in breast reconstruction have limited benefits, sentinel lymph node biopsy is needed for desmoplastic melanoma, certain hair preservation methods improve graft survival, partial turbinectomy effectively reduces nasal obstruction, nipple shields with irrigation may reduce capsular contracture, and thicker malignant melanomas have a higher risk of non-skin cancers.
July 2014 in “Plastic and Reconstructive Surgery” The document concludes that rib-sparing techniques in breast reconstruction have limited benefits, sentinel lymph node biopsy is needed for desmoplastic melanoma, certain hair preservation methods improve graft survival, partial turbinectomy effectively reduces nasal obstruction, nipple shields with irrigation may reduce capsular contracture, and thicker malignant melanomas have a higher risk of non-skin cancers.
November 2013 in “John Wiley & Sons, Ltd eBooks” Skin symptoms can indicate endocrine disorders and have various treatments.
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.
August 2012 in “Pharmaceutical Medicine” The document concludes that various medications and treatments can have significant, sometimes adverse, effects on health outcomes.
February 2012 in “Expert Review of Endocrinology & Metabolism” The document suggests more research is needed to understand the link between baldness and prostate cancer.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
8 citations,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
7 citations,
September 2013 in “Familial cancer” Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
May 2022 in “Liver transplantation” The document explains how the immune system reacts to organ transplants and the treatments used to prevent rejection.
112 citations,
August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.