4 citations
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May 1994 in “Neurology” The boy had a unique condition with seizures, uneven hair loss, and an enlarged brain hemisphere.
9 citations
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February 2012 in “Clinical Neurology and Neurosurgery” Dystonia may be part of PAS-4 and linked to immune issues.
12 citations
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October 2001 in “Pediatric Dermatology” Satoyoshi syndrome symptoms can improve with corticosteroids and surgery.
36 citations
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July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
65 citations
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September 2010 in “Journal of the Neurological Sciences” Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
1 citations
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June 2021 in “Cureus” A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.
2 citations
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March 2021 in “Pakistan veterinary journal” Hyaluronic acid filler injections can quickly and effectively treat canine entropion for 6-8 months without surgery.
1 citations
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May 2008 in “Toxicon” The lowest effective dose of Botox for detrusor sphincter dyssynergia is between 75-100 units.
12 citations
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May 2006 in “Journal of Neurology Neurosurgery & Psychiatry” Neuromyotonia and morphoea can occur together in the same body areas.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
20 citations
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April 2022 in “Journal of Personalized Medicine” Powered exoskeleton training improves body perception and quality of life in spinal cord injury patients.
Early diagnosis and treatment of hereditary vitamin D-resistant rickets (HVDRR) are crucial to prevent growth issues and other health problems.
119 citations
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June 2005 in “Journal of Molecular and Cellular Cardiology” Potassium channel openers are effective in treating heart conditions, high blood pressure, pulmonary diseases, bladder issues, and hair loss, but more selective drugs are needed.
112 citations
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July 2008 in “Dermatologic Therapy” Folliculitis decalvans is a rare scalp condition causing scarring hair loss, treated with long-term antibiotics and other medications, but it often comes back and is hard to manage.
80 citations
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March 2004 in “Neuropediatrics” Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
78 citations
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January 2017 in “Skin appendage disorders” Biotin supplements may improve hair and nail growth in people with certain deficiencies or conditions, but there's not enough evidence to recommend it for healthy individuals.
60 citations
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November 2020 in “International Journal of Medical Sciences” NIR light therapy may effectively treat eye diseases and improve brain function without side effects.
47 citations
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March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
45 citations
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July 2002 in “The Neurologist” A comprehensive approach to educating patients and managing side effects is crucial for improving adherence to multiple sclerosis treatments and patient quality of life.
40 citations
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June 2011 in “Journal of biological chemistry/The Journal of biological chemistry” FA2H is essential for normal fur and sebum production in mice.
38 citations
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January 2014 in “International Journal of Endocrinology” Adrenal disorders can cause lasting brain and behavior issues in children.
36 citations
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March 2019 in “European Journal of Human Genetics” The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
36 citations
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January 2012 in “International Journal of Trichology” Losing eyelashes or eyebrows can be a sign of many different health problems and needs a careful approach to treat effectively.
24 citations
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June 2010 in “Clinics in Dermatology” Taking too many vitamin and mineral supplements can cause serious health problems.
24 citations
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January 2000 in “Dermatology” Gene linked to common hair loss found, may lead to new treatments.
19 citations
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November 2011 Using systemic drugs as creams for skin conditions shows promise, but more research is needed to confirm their effectiveness and safety.
10 citations
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April 2020 in “Clinics in Dermatology” Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
9 citations
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February 2022 in “Nature communications” Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.
8 citations
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October 2017 in “Dermatologic surgery” Maintain a natural, masculine look while rejuvenating the eye area with careful, tailored techniques.
7 citations
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January 2019 in “Australasian Journal of Dermatology” A genetic marker linked to a type of hair loss was found in most patients studied.