60 citations,
February 2003 in “Postgraduate Medical Journal” Early diagnosis and haemodialysis can effectively treat thallium poisoning.
35 citations,
March 2010 in “BMC veterinary research” Goats with BSE or scrapie show varying symptoms, and using only clinical signs may not detect all scrapie cases.
18 citations,
December 2006 in “Clinical dysmorphology” A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
147 citations,
January 2003 in “American journal of clinical dermatology” The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
2 citations,
January 2017 in “Journal of Pigmentary Disorders” Genetics, stress, and health issues can cause early hair greying, which affects self-esteem, and there's no cure, only hair dye.
1 citations,
June 2021 in “Cureus” A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.
January 2022 in “Exclusive Real World Evidence Journal” A rare form of lupus can cause severe nerve damage and other symptoms, but treatment can help.
80 citations,
March 2004 in “Neuropediatrics” Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
Stopping finasteride and closing PFO can help prevent strokes in young adults.
14 citations,
March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
163 citations,
April 1953 in “Acta radiologica” Radiation therapy with a higher dose for the brain improves survival in cerebellar medulloblastoma.
1 citations,
April 1953 in “Acta Radiologica” Irradiating the whole central nervous system can lead to over 50% of patients with cerebellar medulloblastoma surviving three years.
81 citations,
February 2016 in “Veterinary pathology” Progeroid mouse models show signs of early aging similar to humans, helping us understand aging better.
50 citations,
November 2010 in “Otolaryngologic Clinics of North America” Recognizing oral symptoms can help diagnose and treat blood and nutritional diseases early.
3 citations,
April 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” Beta-caryophyllene, found in essential oils, helps wounds heal better in multiple ways.
65 citations,
September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
May 2011 in “Journal of Clinical Neuroscience” The woman was diagnosed with Vogt–Koyanagi–Harada disease and successfully treated with medication, restoring her vision and stopping headaches.
July 2021 in “Veterinary record/The veterinary record” A calf in Scotland likely had Schmallenberg virus from its mother.
May 2022 in “European medical journal” An 11-year-old girl with Trichotillomania developed a large hairball in her stomach, treated with medication, therapy, and family education.
65 citations,
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.
47 citations,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
11 citations,
November 2020 in “Movement Disorders Clinical Practice” A man developed neurological issues from SARS-CoV-2 without severe breathing problems, worsening to death.
30 citations,
February 2003 in “Annals of Neurology” Progesterone and related compounds may help control seizures linked to the menstrual cycle but have limitations that need addressing.
29 citations,
December 2003 in “Teratology” Minoxidil use during pregnancy may cause fetal harm.
17 citations,
July 2017 in “Molecular and Cellular Endocrinology” Effective treatments for spinal and bulbar muscular atrophy are not yet available; more research is needed.
8 citations,
February 2003 in “Annals of Neurology” Progesterone treatment improved seizures in a woman with menstrual cycle-related epilepsy, but a wrong medication worsened her condition.
2 citations,
January 2008 in “International Journal of Neuroscience” A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
2 citations,
February 2003 in “Annals of Neurology” Neuroimaging suggests that treatments targeting brain steroids could help control epilepsy, especially types linked to the menstrual cycle.
1 citations,
August 2021 in “Canadian journal of neurological sciences” Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
December 2018 in “Neuroradiology” MRI helps distinguish between pituitary adenomas and craniopharyngiomas, guides treatment for pediatric CNS tumors, and assesses rhinocerebral mucormycosis with a high mortality rate in transplanted patients.