September 2024 in “The Neurohospitalist” Careful management of chronic hyponatremia is crucial to prevent severe neurological issues.
7 citations
,
January 2020 in “Dermatology online journal” An adult with a rare skin condition improved with tazarotene treatment.
5 citations
,
January 2025 in “Nature Reviews Nephrology” 6 citations
,
September 2023 in “International journal of molecular sciences” Oxidative stress worsens PCOS by damaging cells and disrupting metabolism, suggesting antioxidant treatments might help.
October 2023 in “Benha Journal of Applied Sciences” Men with male pattern baldness have lower levels of the antioxidant PON1.
56 citations
,
January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
11 citations
,
March 2016 in “Journal of the European Academy of Dermatology and Venereology” Almost all patients with chronic kidney disease not yet on dialysis have at least one skin problem.
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.
15 citations
,
May 1966 in “The Journal of Urology” A woman developed severe bladder inflammation after cancer treatment with Cytoxan.
17 citations
,
August 2015 in “PLoS ONE” Iron contributes to skin fibrosis in nephrogenic systemic fibrosis.
5 citations
,
January 2021 in “Indian Journal of Pharmacology” Nilotinib can cause generalized keratosis pilaris.
July 2024 in “Clinical Case Reports” ANA-negative lupus nephritis can be diagnosed and treated effectively with a comprehensive approach.
203 citations
,
December 1947 in “Annals of Internal Medicine”
35 citations
,
May 2015 in “Arquivos De Gastroenterologia” Women with PCOS are more likely to have fatty liver disease and worse metabolic health.
14 citations
,
February 1991 in “FEBS Letters” Introducing the rat OTC gene partially corrected OTC deficiency in mice.
26 citations
,
September 1969 in “The American journal of medicine” Cronkhite-Canada Syndrome often leads to death within 6-18 months.
65 citations
,
March 2004 in “Journal of Clinical Investigation” Inhibiting ornithine decarboxylase may help prevent certain skin cancers.
December 2023 in “Curēus” A woman with lupus had rare severe symptoms but improved with treatment.
28 citations
,
November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
September 2024 in “Meditsinskiy sovet = Medical Council” Excessive vitamin A intake can cause eye damage, but recovery is possible with proper treatment.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
March 2016 in “West Indian medical journal” There is no significant link between alopecia areata and the PON1 enzyme polymorphisms studied.
December 2023 in “International Journal of Dermatology”
August 2023 in “The American Journal of Medicine” A young woman with lupus was treated with hydroxychloroquine and prednisone.
29 citations
,
August 2007 in “Annals of Oncology” Docetaxel and oxaliplatin are effective and have manageable side effects for recurrent platinum-sensitive ovarian cancer.
16 citations
,
April 2018 in “Current opinion in gynecology and obstetrics” Hispanic women with PCOS are more likely to have liver diseases like NAFLD and NASH.
39 citations
,
September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
7 citations
,
May 2010 in “Journal of Dermatological Treatment” A man with multiple autoimmune diseases developed liver injury from azathioprine, but his liver improved after stopping the drug.
13 citations
,
October 2016 in “Journal of Clinical Neuroscience” Thallium poisoning can cause worsening nerve damage and vision loss without typical symptoms.
March 2005 in “Journal of The American Academy of Dermatology” Mycophenolate mofetil improved skin condition in a man with nephrogenic fibrosing dermopathy.