December 2016 in “Springer eBooks” Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.
171 citations,
October 1990 in “Alcoholism/Alcoholism, clinical and experimental research” The document concludes that the exact way alcohol causes harm to fetal development is unknown, but it significantly affects nutrient transport to the fetus and a safe level of alcohol during pregnancy is not determined.
20 citations,
December 2000 in “Fertility and Sterility” The N363S gene variant does not cause higher adrenal androgen levels in women with polycystic ovary syndrome.
12 citations,
July 1979 in “International Journal of Dermatology” A patient with zinc depletion improved after zinc supplementation during parenteral nutrition.
7 citations,
August 2020 in “Health and Quality of Life Outcomes” Birth control pills containing cyproterone acetate improve the quality of life more for women with polycystic ovary syndrome after 6 months of use.
June 2023 in “GSC Advanced Research and Reviews” Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
May 2015 in “Journal of The American Academy of Dermatology” A woman with Parry-Romberg syndrome developed new curly hair on one side of her scalp, a condition not previously linked to the syndrome.
46 citations,
September 2011 in “Movement Disorders” Finasteride reduces Tourette syndrome symptoms, but results may be limited due to potential biases.
39 citations,
January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
28 citations,
August 2001 in “Journal of cutaneous medicine and surgery” People with Down's syndrome often have more skin problems due to a weak immune system.
6 citations,
April 1985 in “Australasian journal of dermatology” The cause of the syndrome with scalp scaling and hair loss is unknown.
2 citations,
May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
17 citations,
May 2011 in “Movement Disorders” Finasteride significantly reduced tics and obsessive-compulsive symptoms in patients with Tourette syndrome.
6 citations,
February 2004 in “Clinical and Experimental Ophthalmology” The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
5 citations,
May 2011 in “Movement Disorders” Finasteride significantly reduced tics and obsessive-compulsive symptoms in Tourette syndrome patients.
15 citations,
July 2017 in “Hormones” Genetic defects in the glucocorticoid receptor gene can cause conditions with abnormal sensitivity to stress hormones, and other factors may also affect this sensitivity.
29 citations,
October 2019 in “Journal of dermatological science” Studying premature aging syndromes helps understand human aging and suggests potential treatments.
5 citations,
October 2021 in “Journal of Ovarian Research” Cinnamon can help manage symptoms of polycystic ovary syndrome, improve menstrual cycles and fertility, and positively affect cholesterol and blood sugar levels, but more research is needed to confirm these effects and find the best dosage.
4 citations,
May 2023 in “Cells” Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
39 citations,
May 2011 in “Movement Disorders” Finasteride may help reduce symptoms in male Tourette syndrome patients.
23 citations,
February 2004 in “Clinical and Experimental Ophthalmology” A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.
13 citations,
February 2004 in “Clinical and Experimental Ophthalmology” A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
20 citations,
February 2004 in “Clinical and Experimental Ophthalmology” Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
5 citations,
May 2011 in “Movement Disorders” Finasteride may help reduce tic severity in male Tourette syndrome patients.
47 citations,
June 2011 in “Movement Disorders” The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
31 citations,
June 2011 in “Movement Disorders” The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
10 citations,
June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
4 citations,
May 2011 in “Movement Disorders” A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
62 citations,
August 2014 in “BMC Endocrine Disorders” New findings explain how genetic changes, body clocks, and certain molecules affect tissue response to stress hormones.
48 citations,
July 2018 in “Journal of The American Academy of Dermatology” Spironolactone helps reduce pain and lesions in hidradenitis suppurativa patients, and lower doses are also effective.