May 2023 in “Zenodo (CERN European Organization for Nuclear Research)” Anemia in pregnant women is linked to being younger, having lower income, and drinking coffee, while regular check-ups and age reduce risk.
8 citations
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October 2014 in “The Journal of Dermatology” Patients with alopecia areata should be checked for muscle spasms, diarrhea, and ANA to avoid missing Satoyoshi syndrome.
April 2015 in “Archives of disease in childhood” A chubby child can still be malnourished.
20 citations
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May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
January 2024 in “Pediatric rheumatology online journal” Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
December 2020 in “Pathology” A man's skin condition and poor diet led to a scurvy diagnosis.
15 citations
,
November 2009 in “Journal of diabetes and its complications” Patients with Type 1 diabetes should be screened for pernicious anemia.
April 2023 in “World Journal of Advanced Research and Reviews” Frequent blood transfusions in beta thalassemia can lead to thyroid problems.
Iron supplements help reduce fatigue in anaemia but often cause side effects like black stools and stomach issues.
September 2025 in “Indian Journal of Child Health” Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.
November 2018 in “Springer eBooks” Children need early diagnosis and treatment for iron-deficiency anemia to prevent learning problems and promote health.
6 citations
,
January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Three siblings with a genetic form of rickets showed different symptoms of the disease.
April 2023 in “Zenodo (CERN European Organization for Nuclear Research)” Frequent blood transfusions in beta thalassemia patients can lead to thyroid problems.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Scurvy still occurs today and can be diagnosed by symptoms like gum bleeding and a specific rash, confirmed by low vitamin C levels.
January 1991 in “Linchuang pifuke zazhi”
49 citations
,
April 2015 in “Emerging Infectious Diseases” Artesunate is generally safe for severe malaria, but patients should be monitored for delayed anemia after treatment.
12 citations
,
July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
Screening for iron levels in patients with hair loss may help find a genetic iron overload condition early.
June 2024 in “Indian Journal of Veterinary Medicine” The young goat had anaplasmosis and copper deficiency.
12 citations
,
June 2006 in “Pediatric blood & cancer” A 16-year-old boy had pernicious anemia, autoimmune hemolytic anemia, and later developed alopecia areata.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
October 2024 in “Journal of the Endocrine Society” Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
29 citations
,
January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
21 citations
,
March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
8 citations
,
March 2011 in “Endocrine” A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
March 2023 in “International Journal of Science and Research (IJSR)” Iron supplements improve life quality for people with anemia.
4 citations
,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
11 citations
,
January 2020 in “BMC pediatrics” New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
6 citations
,
March 2016 in “PLoS ONE” The patient's hair was thinner and had fewer lipids due to a genetic mutation.
79 citations
,
March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder monilethrix.