October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
January 2025 in “BMC Nephrology” Most end-stage renal disease patients in Jordan have skin issues like dryness and itching.
3 citations
,
November 2022 in “The Egyptian Rheumatologist” Macrophage activation syndrome can be a deadly first sign of systemic lupus erythematosus.
2 citations
,
August 2004 Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
October 2023 in “BMJ Case Reports” Thyroid hormone therapy effectively treated the man's rare muscle and heart issues.
4 citations
,
January 2001 in “Archives of Biochemistry and Biophysics” Activated ras can protect kidney cells from a certain substance that causes cell death.
June 2017 in “Acta Scientiae Veterinariae” A cat with a rare pancreatic tumor and diabetes died despite treatment, showing similar symptoms to a human condition.
September 2024 in “The Neurohospitalist” Careful management of chronic hyponatremia is crucial to prevent severe neurological issues.
September 2024 in “Meditsinskiy sovet = Medical Council” Excessive vitamin A intake can cause eye damage, but recovery is possible with proper treatment.
9 citations
,
August 1980 in “Journal of Cutaneous Pathology” Rhodamin B stain is inconsistent for keratin in skin samples.
1 citations
,
September 2022 in “Canadian Journal of Ophthalmology” Paraproteinemic keratopathy can show eye symptoms before other signs of disease, needing careful treatment and long-term follow-up.
1 citations
,
May 2021 in “Mayo Clinic Proceedings” A 69-year-old man with sinus infection and fainting spells was diagnosed with a rare kidney disease, treated with steroids and a specific drug, which improved his condition.
20 citations
,
December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
1 citations
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July 2014 in “Nepal journal of dermatology, venereology & leprology” Patients with chronic kidney disease on hemodialysis often have skin problems.
November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
1 citations
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November 2020 in “International Journal of Dermatology” Methotrexate caused a rare skin rash in a rheumatoid arthritis patient, which resolved after stopping the drug.
February 2019 in “Neoreviews” The infant with a urea cycle disorder improved with treatment and a liver transplant.
11 citations
,
October 2021 in “Orphanet journal of rare diseases” Patients with RASopathies are at risk for autoimmune disorders and should be routinely screened.
1 citations
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October 2024 in “Veterinary Sciences” Hemodialysis successfully treated a cat with minoxidil poisoning.
July 2023 in “Media Dermato Venereologica Indonesiana” Accurate diagnosis of RDEB-mitis in older adults is crucial for proper management without immunosuppressants.
5 citations
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August 2021 in “Journal of biological chemistry/The Journal of biological chemistry” Retinoic acid affects male and female muscle energy use and function differently.
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.
November 2024 in “International Journal of Research in Medical Sciences” Hypoalbuminemia can cause pleural effusion and needs careful treatment.
December 2024 in “Livers” Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.
September 2024 in “International Journal of Innovative Science and Research Technology (IJISRT)” Early diagnosis and aggressive treatment of lupus nephritis can prevent kidney damage and improve outcomes.
7 citations
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July 1975 in “Acta dermato-venereologica” A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
4 citations
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July 1994 in “Clinics in Dermatology” Eosinophilia-myalgia syndrome, linked to contaminated L-tryptophan supplements, caused severe symptoms and some deaths, with long-term effects in survivors.
January 2023 in “Toxicological Research”
December 2023 in “Curēus” A woman with lupus had rare severe symptoms but improved with treatment.
9 citations
,
November 1991 in “American Journal of Kidney Diseases”