September 2006 in “Pediatrics in Review” Early diagnosis and treatment are crucial for complex medical conditions.
54 citations
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June 2018 in “Nutrients” Early diagnosis and a strict gluten-free diet are crucial for children with celiac disease to improve symptoms.
January 2017 in “Dermatology Review” Skin issues from chronic graft-versus-host disease greatly affect daily life, needing teamwork between blood and skin doctors.
August 2020 in “International Journal of Research in Dermatology” Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
November 2022 in “CARDIOMETRY” A group has developed therapies that show promise for treating cancer and various other conditions.
January 2025 in “JCEM Case Reports” Metyrapone can effectively treat Cushing's Disease even if the mass causing it is not found.
15 citations
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January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” p120-catenin helps control skin inflammation by regulating cadherin levels.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
October 2024 in “Journal of the American Society of Nephrology” Some CKD patients' kidney function remains stable over time.
6 citations
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March 2023 in “Journal of Ethnopharmacology” Jieduquyuziyin prescription helps treat SLE with atherosclerosis by improving cholesterol removal and reducing inflammation.
6 citations
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April 2012 in “PubMed” Enteral supplements can improve symptoms of Cronkhite-Canada syndrome.
April 2025 in “Digital Commons - East Tennessee State University (East Tennessee State University)” Long COVID can cause lasting health issues like fatigue and brain fog, especially in those with severe initial infections or no vaccination.
January 2026 in “Dermatology Online Journal” CCCA can appear as patchy hair loss in younger men, not just the usual pattern.
37 citations
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June 2000 in “Experimental dermatology” The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
March 2023 in “Authorea (Authorea)” Early diagnosis and treatment of systemic-onset juvenile idiopathic arthritis are crucial for improvement.
May 2024 in “Biochemical pharmacology” Blocking CISD1 reduces hearing loss from cisplatin in mice.
21 citations
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October 1980 in “Gastroenterology” The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.
January 2025 in “JCEM Case Reports” Ketoconazole improved symptoms of ACTH-independent Cushing syndrome despite inconclusive initial scans.
February 2005 in “Journal of the American Academy of Dermatology”
August 2023 in “Journal of the American Academy of Dermatology” The letter suggests that the study's comparison group might have affected the results and calls for larger, more detailed future research.
April 2020 in “Journal of the Endocrine Society” Hair cortisol measurement can help diagnose and monitor Cushing’s disease.
17 citations
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June 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” The G60S Connexin43 mutation causes hair growth issues and poor hair quality in mice, similar to human ODDD patients.
35 citations
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January 2013 in “The Journal of experimental medicine/The journal of experimental medicine” CD98hc's role in skin health decreases with age.
The C-CAT tool helps assess and improve treatment for central centrifugal cicatricial alopecia.
81 citations
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July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
March 2025 in “OncoTargets and Therapy” A specific genetic trait in tumor cells is linked to longer survival without disease in certain lymphoma patients.
54 citations
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July 2017 in “Scientific Reports” JMJD3 and NF-κB activate Notch1, which is essential for skin cell movement and wound healing.
August 2022 in “IntechOpen eBooks” Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.