2 citations,
November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
Diphenyl cresyl phosphate has low toxicity but can harm the liver, kidneys, adrenal glands, and testicles at high doses.
May 2023 in “Clinical and translational neuroscience” Tailored neurorehabilitation programs improve life quality for post-COVID-19 patients.
5 citations,
December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
3 citations,
January 2019 in “Case Reports in Ophthalmology” VKHD and sarcoidosis may share a common cause.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
86 citations,
January 2019 in “Frontiers in Immunology” The document concludes that diagnosing and treating Human African Trypanosomiasis is challenging, but new treatments like fexinidazole are promising.
5 citations,
May 2022 in “Diagnostics” Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
4 citations,
January 2019 in “PubMed” Low dose valproate in epileptic children mainly causes weight gain and other non-life-threatening side effects.
The man likely has secondary syphilis affecting his nervous system.
23 citations,
January 2001 in “International journal of toxicology” St. John's Wort extract and oil safety in cosmetics is unclear; more data needed on photosensitization, toxicity, and human irritation.
39 citations,
January 2012 in “Acta dermato-venereologica” Early detection and stopping the drug are key to managing DRESS, and careful monitoring is important due to possible severe reactions.
January 2020 in “Archives of urology” Finasteride, a drug used for certain conditions, can cause serious side effects like sexual dysfunction, suicidal thoughts, and increased diabetes risk, and there's a need for more awareness and research about these effects.
November 2024 in “Frontiers in Medicine” Cirrhosis affects quality of life with various symptoms, requiring a holistic, multidisciplinary approach for management.
36 citations,
July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
April 2024 in “Research Square (Research Square)” A 27-year-old with APS-1 showed improvement in symptoms after treatment.
35 citations,
August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
26 citations,
December 2020 in “Nature metabolism” Rapamycin treatment helps with mitochondrial disease by reducing PKC levels.
August 2023 in “Natural Resources for Human Health” Vegetarians should take B vitamin supplements to avoid health issues.
65 citations,
September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
1 citations,
September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
1 citations,
May 2023 in “Scientific Reports” Most hospitalized COVID-19 survivors in the study experienced long-term symptoms, affecting their daily life and mental functions.
5 citations,
October 2022 in “Cureus” Older, obese people with many COVID-19 symptoms are more likely to suffer from severe long-term COVID-19 effects.
5 citations,
June 2020 in “Medicine” A patient with a rare disease had a unique genetic mutation linked to their symptoms.
7 citations,
January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
1 citations,
June 2023 in “BMC Pediatrics” Most children recovered from COVID-19 in 4 weeks, but some experienced long-term symptoms, especially older kids.
18 citations,
March 2006 in “Expert Review of Neurotherapeutics” The document concludes that managing side effects of MS therapies is crucial for treatment success and patient adherence.
5 citations,
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” Rapamycin may help treat Leigh syndrome by targeting protein kinase C.
1 citations,
September 2022 in “Rheumatology Advances in Practice” Costovertebral arthritis can cause chronic back pain in SLE patients and needs thorough evaluation.
4 citations,
February 2022 in “International Journal of Molecular Sciences” Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.