30 citations
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May 2019 in “Scientific Reports” Late pregnancy helps repair brain damage in rats due to the GABAergic system.
8 citations
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December 2009 in “Journal of The European Academy of Dermatology and Venereology” Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
4 citations
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September 2013 in “Journal of Plastic Surgery and Hand Surgery” A girl with a rare syndrome had successful hair loss treatment with no relapse after 4 years.
12 citations
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July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
November 2024 in “Rheumatology Advances in Practice” Timely diagnosis of SLE is crucial due to symptom overlap with fibromyalgia.
52 citations
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August 1993 in “Clinical endocrinology” Intravenous and oral calcium effectively treated vitamin D dependent rickets type II, improving growth and bone health.
27 citations
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May 2007 in “Archives of dermatological research” Diphencyprone treatment increases CD8 lymphocytes in the scalp, which is associated with hair regrowth in alopecia areata patients.
39 citations
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January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
44 citations
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July 2013 in “Journal of the American Academy of Dermatology” Poliosis circumscripta is a patch of white hair caused by lack of melanin, linked to genetic and acquired conditions.
8 citations
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June 2019 in “Orphanet journal of rare diseases” Corticosteroids are the most effective treatment for Satoyoshi syndrome.
January 2014 in “eScholarship (California Digital Library)” Targeting specific GABA receptors may help treat epilepsy and postpartum depression.
19 citations
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May 2009 in “Pediatric Dermatology” A 5-year-old girl's scalp scarring and hair loss from lupus improved with specific medications.
1 citations
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January 2008 in “SKINmed Dermatology for the Clinician” Treatment with prednisolone and dapsone stopped new blisters and partially healed previous ones.
7 citations
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January 2009 in “Immunological investigations” A 3-year-old boy lost all his hair due to a rare reaction to phenobarbital, but it grew back after steroid treatment.
1 citations
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April 2018 in “Journal of Investigative Dermatology” The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.
1 citations
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June 2022 in “Tidsskrift for Den norske legeforening” A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
3 citations
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December 2007 in “Injury Extra” An elderly man with dementia suffered limb damage from rubber bands around his leg, highlighting the need for careful monitoring to prevent such injuries.
October 2024 in “Journal of the Endocrine Society” Hypothyroidism may cause vertigo symptoms like BPPV.
May 1999 in “Medicine & Science in Sports & Exercise” The gymnast's wrist pain and delayed menstruation are linked to intense exercise, requiring reduced activity and monitoring.
December 2009 in “Cancer Research” Over-expression of Sp2 can lead to cancer by preventing proper stem cell differentiation.
4 citations
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September 2015 in “JAAD case reports” Substance P may play a role in the inflammation seen in keratosis follicularis spinulosa decalvans.
4 citations
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August 2021 in “Pediatrics in review” DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.
3 citations
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May 2004 in “Journal of neurosurgery” Endoscopy-assisted surgery for craniosynostosis showed excellent outcomes with minimal complications and most patients went home the day after surgery.
13 citations
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July 2016 in “Indian Journal of Dermatology” DPR can show different hair characteristics, as seen in two brothers with normal hair.
15 citations
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March 2008 in “The Journal of Dermatology” Topical squaric acid dibutylester worsened discoid lupus erythematosus in a patient.
6 citations
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May 2000 in “Pediatric Dermatology” KID syndrome should be reclassified as an ectodermal dysplasia.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
50 citations
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September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
11 citations
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January 2018 in “DOAJ (DOAJ: Directory of Open Access Journals)” A 4-year-old boy with a rare type of rickets and hair loss improved in bone health but not hair growth after vitamin D and calcium treatment.
20 citations
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May 2011 in “Journal of Clinical Investigation” The study created a mouse model to mimic degenerative diseases for testing tissue repair and new therapies.