April 2026 in “Clinical Case Reports” A strict gluten-free diet can improve liver issues in celiac disease.
February 2024 in “Rheumatology & autoimmunity” Lupus can cause unusual vision problems, so it's important to consider it in such cases.
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
1 citations
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January 2018 in “Pediatrics in review” A 7-year-old boy with a brain tumor developed early puberty, which was successfully treated with medication.
10 citations
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June 2001 in “Annals of neurology” Alzheimer's patients have higher levels of certain chemicals in their hair.
99 citations
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August 1998 in “Pain” Blocking GABA(A) receptors increases neuron sensitivity, showing GABA and glycine have different roles in pain.
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.
81 citations
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July 2012 in “Translational Psychiatry” Memantine may slightly improve memory in people with Down syndrome, but more research is needed.
5 citations
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April 2024 in “BMC Neurology” Clinicians should recognize taste disorders and hair loss as important symptoms in myasthenia gravis patients.
33 citations
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December 1982 in “Developmental Medicine & Child Neurology” Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
15 citations
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April 1997 in “Muscle & Nerve” 5 citations
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April 1997 in “Muscle & Nerve” The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
1 citations
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November 2025 in “Neuro-Oncology” Safusidenib erbumine shows promise as a treatment for certain brain tumors, but mild side effects like hair loss need attention.
2 citations
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December 2008 in “Clinical and Experimental Dermatology” A small forehead lesion led to the discovery of a significant brain arteriovenous malformation in a young girl.
July 2020 in “Endocrine practice” A 13-year-old boy with Cushing syndrome has high cortisol levels from a pituitary gland issue and underdeveloped sexual characteristics.
184 citations
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August 1983 in “The journal of pediatrics/The Journal of pediatrics” Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
May 2011 in “Psychiatric News” Horizant has risks like other seizure drugs, Johnson & Johnson misled about Risperdal, and Quanterix found a possible link between brain oxygen loss and Alzheimer's markers.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
March 2020 in “Poster presentations” Accurate diagnosis of SLE requires extensive testing due to its complex symptoms.
7 citations
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May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
18 citations
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January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
July 2020 in “Nepalese journal of ophthalmology” A boy with progeria had eye problems and signs of aging like hair loss and skin wrinkling.
48 citations
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February 1998 in “British Journal of Dermatology” Thallium poisoning can cause severe neurological symptoms and hair loss.
October 2022 in “Amplla Editora eBooks” Deep Brain Stimulation helps manage Parkinson's symptoms when medication isn't enough.
June 2025 in “Proceedings of the National Academy of Sciences” A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
2 citations
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January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
September 2024 in “The Neurohospitalist” Careful management of chronic hyponatremia is crucial to prevent severe neurological issues.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
18 citations
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January 2016 in “Journal of Clinical Medicine Research” A woman with lupus and severe nerve damage improved with specific treatments.