356 citations,
September 2014 in “Journal of Clinical Research in Pediatric Endocrinology” Childhood obesity is rising globally due to various factors, and early prevention and healthy lifestyle changes are crucial.
11 citations,
January 2015 in “Dermatology” The conclusion suggests a new way to classify bradykinin-mediated angio-oedema based on different causes and its possible link with urticaria, which could improve diagnosis and treatment.
1 citations,
November 2021 in “Biomedicines” Understanding how acne develops in different diseases could lead to new treatments.
April 2023 in “Medizinische Genetik” New gene discoveries have improved diagnosis and treatment for skin and hair disorders, but more research is needed to fully understand them.
9 citations,
August 2021 in “International journal of molecular sciences” PPARγ is essential for maintaining healthy skin, controlling inflammation, and ensuring proper skin barrier function.
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
1 citations,
January 2021 in “Journal of the Dermatology Nurses’ Association” The convention discussed various skin conditions and treatments, and highlighted the importance of vaccinations for patients on immune-altering medications.
January 2024 in “Biomedicines” The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.
July 2023 in “Journal of allergy and clinical Immunology. Global” A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
9 citations,
August 2021 in “Journal of clinical medicine” Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
January 2014 in “Pathology” Early subungual melanoma might be treated with less aggressive surgery because it invades the skin under the nail more slowly.
118 citations,
October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
9 citations,
July 2009 in “Journal Of Endocrinology, Metabolism And Diabetes Of South Africa” The document concludes that managing PCOS involves treating symptoms and reducing long-term metabolic risks, with lifestyle changes being important.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
87 citations,
March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
7 citations,
July 2011 in “Survey of Ophthalmology” The document concludes that periocular hair disorders have various causes and treatments, and proper evaluation by specialists is important for management and prognosis.
March 2023 in “Scholars international journal of obstetrics and gynecology” PCOS is a complex condition that affects women's hormonal balance and metabolism, requiring lifestyle changes and medical management.
September 2014 in “Journal der Deutschen Dermatologischen Gesellschaft” Diabetes can cause a variety of skin disorders, some of which may signal more serious health issues.
405 citations,
June 2007 in “Journal of The American Academy of Dermatology” Obesity affects skin health, causing conditions like acanthosis nigricans and may require different treatment approaches.
96 citations,
April 2007 in “The Journal of Clinical Endocrinology & Metabolism” Women with type 1 diabetes often have polycystic ovary syndrome and excess male hormones, which are frequently undiagnosed.
36 citations,
January 2017 in “Journal of Obstetrics and Gynaecology Research” The review found no clear link between vitamin D receptor gene variations and polycystic ovary syndrome.
32 citations,
January 2007 in “KARGER eBooks” Severe insulin resistance can be managed with medication, lifestyle changes, and treatment for related conditions.
27 citations,
April 2013 in “Reviews in endocrine and metabolic disorders” The document concludes that using LC-MS/MS for measuring androgens is more accurate than older methods, but it needs careful validation and standardized references to be most effective.
2 citations,
January 2017 in “Journal of Pigmentary Disorders” Genetics, stress, and health issues can cause early hair greying, which affects self-esteem, and there's no cure, only hair dye.
December 2017 in “Springer eBooks” Treat pediatric skin issues with accurate diagnosis, multidisciplinary team, and various treatment options.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
11 citations,
January 2020 in “Medical Journal Armed Forces India” Insulin resistance is a complex condition that can lead to many diseases and has few treatment options.
A young girl had a rare neck cyst removed and needs careful monitoring for related health issues.
8 citations,
May 2022 in “Orphanet Journal of Rare Diseases” The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.