81 citations
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October 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
December 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
14 citations
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June 2019 in “BMC infectious diseases” A rare fungal infection on a child's scalp was successfully treated with antifungal medication.
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.
June 2013 in “The mental health clinician” Large data can lead to new medical discoveries and personalized medicine.
6 citations
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November 2019 in “The application of clinical genetics” The study found that a specific genetic variation in the TNFα gene is significantly linked to Alopecia Areata in the Jordanian Arab population.
January 2020 in “Medical journal of clinical trials & case studies” A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
6 citations
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January 2021 in “Endocrine journal” A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.
2 citations
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November 2015 in “Actas Dermo-Sifiliográficas” Epidermal stem cells show promise for future dermatology treatments due to ongoing advancements.
3 citations
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December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
3 citations
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January 2001 in “Cambridge University Press eBooks” Finasteride effectively treats hair loss and enlarged prostate in men, with mild side effects.
January 2021 in “ABC Heart Failure & Cardiomyopathy” A 90-year-old man was diagnosed with heart failure due to wild-type transthyretin cardiac amyloidosis.
April 2023 in “Curēus” A 12-year-old girl in Saudi Arabia with Focal dermal hypoplasia showed skin and dental symptoms, highlighting the condition's variability and the need for personalized treatment.
January 2019 Changes in skin bacteria can affect hair loss and new treatments targeting these bacteria may prevent balding without sexual side effects.
84 citations
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March 2010 in “Infectious Disease Clinics of North America” The document concludes that rapid identification, isolation, and strict infection control are crucial to manage SARS outbreaks.
24 citations
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July 2018 in “Journal of Molecular Endocrinology” The spiny mouse is a unique menstruating rodent that can help us understand menstruation and reproductive disorders.
9 citations
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January 2017 in “Journal of the Egyptian Women's Dermatologic Society (Print)” Fungal infection was the main cause of hair loss in Egyptian children studied.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
December 2013 in “Proceedings of the National Academy of Sciences of the United States of America” Scientists found a new method using 3D cell cultures to grow human hair which may improve hair restoration treatments.
2 citations
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January 2019 in “Medizinische Genetik” The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
April 2023 in “Medizinische Genetik” New research has found 14 genes linked to the risk of developing alopecia areata, improving understanding and treatment options.
5 citations
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November 2021 in “Saudi medical journal” The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
September 2016 in “British Journal of Dermatology” The document discusses new cosmetic dermatology technologies, safety, robotic hair restoration, and upcoming courses on genomics and skin cancer management.
July 2016 in “British Journal of Dermatology” The book provides an overview of new trends and techniques in cosmetic dermatology.
30 citations
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November 2019 in “Genetics selection evolution” Chinese domestic goats have unique genetic traits due to domestication and geographic isolation.
6 citations
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August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
3 citations
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June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
7 citations
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June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
29 citations
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June 2018 in “Clinical Endocrinology” Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.
November 2022 in “Gigascience” A specific genetic deletion in goats affects cashmere yield and thickness.