1 citations,
July 2007 in “Regenerative Medicine” Stem cell research and regenerative medicine have made significant advancements in treating various diseases and conditions.
Using scalp stem cells can improve hair transplants.
May 2021 in “Journal of the Endocrine Society” A patient produced cortisol after adrenalectomy, possibly due to residual tissue or other body parts making steroids.
A man with four autoimmune diseases suggests a new category for multiple autoimmune syndrome.
September 2020 in “Journal of Health, Medicine and Nursing” A 10-year-old boy with abnormal genital development had surgery and tests to find the cause and plan treatment.
January 2018 in “General internal medicine and clinical innovations” Busulfan/cyclophosphamide and total bone irradiation are equally effective for AML transplants.
February 2009 in “Journal of The American Academy of Dermatology” Most patients with Tuberous sclerosis had neurological or skin issues, and over half had psychiatric problems.
February 2009 in “Journal of The American Academy of Dermatology” Yellow dots look different in various hair loss conditions and can help diagnose them.
February 2009 in “Journal of The American Academy of Dermatology” The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.
8 citations,
July 2015 in “Molecular cytogenetics” A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
4 citations,
August 2021 in “Pediatrics in review” DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.
October 2023 in “IJEM case reports” A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
May 2011 in “Journal of pediatric nursing” A patient with congenital adrenal hyperplasia improved after adjusting her medication to prevent Cushing's syndrome symptoms.
13 citations,
June 2012 in “European journal of medical genetics” Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
3 citations,
May 2022 in “Clinical endocrinology” Hair steroid measurement is an effective method to diagnose and monitor CAH in developing countries.
1 citations,
September 2019 in “Steroids” Two new mutations in the AR gene linked to severe androgen insensitivity were found.
March 2021 in “AACE clinical case reports” A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
23 citations,
December 2008 in “Pediatric neurology” The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.
17 citations,
January 2007 in “Annals of Medicine” Cutaneous gene therapy could become a viable treatment for skin and hair disorders with improved vector development and gene expression control.
15 citations,
July 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” iPSCs can help treat genetic skin disorders by creating healthy skin cells from a small biopsy.
7 citations,
August 2020 in “Current topics in medicinal chemistry” New cancer treatments aim to reduce side effects and improve effectiveness.
6 citations,
July 2019 in “Experimental Dermatology” Skin can produce blood cells, often due to disease, which might lead to new treatments for skin and blood conditions.
3 citations,
April 2017 in “Medicine” An 11-year-old boy in Saudi Arabia has a rare case of hypoparathyroidism with severe brain calcifications but normal development and no known cause.
1 citations,
October 2023 in “Animals” Certain DNA regions in alpacas are linked to fiber diameter.
February 2024 in “Future science OA” Loss of the Y chromosome and UTY gene activity increases cancer risk in men.