research Thallium Poisoning: Emphasis on Early Diagnosis and Response to Hemodialysis
Early diagnosis and haemodialysis can effectively treat thallium poisoning.
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30 / 406 resultsresearch Monitoring of Clinical Signs in Goats with Transmissible Spongiform Encephalopathies
Goats with BSE or scrapie show varying symptoms, and using only clinical signs may not detect all scrapie cases.
research Rhombencephalosynapsis Presenting Antenatally with Ventriculomegaly/Hydrocephalus in a Likely Case of Gomez–López-Hernández Syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
research Ichthyosis
The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
research Premature Greying of Hair (Premature Canities): A Concern for Parent and Child
Genetics, stress, and health issues can cause early hair greying, which affects self-esteem, and there's no cure, only hair dye.
research Hereditary Chorea Associated With and Aggravated by Systemic Lupus Erythematosus
A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.
research Atypical Presentation of Systemic Lupus Erythematosus with Vasculitic Polyneuropathy
A rare form of lupus can cause severe nerve damage and other symptoms, but treatment can help.
research Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth, and Defects of Bone Marrow and Integument
Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
research An Unusual Case of Thalamic Stroke in a Young Adult With Patent Foramen Ovale and Finasteride Use
Stopping finasteride and closing PFO can help prevent strokes in young adults.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research Cerebellar Medulloblastoma: Treatment by Irradiation of the Whole Central Nervous System
Radiation therapy with a higher dose for the brain improves survival in cerebellar medulloblastoma.
research Cerebellar Medulloblastoma: Treatment by Irradiation of the Whole Central Nervous System
Irradiating the whole central nervous system can lead to over 50% of patients with cerebellar medulloblastoma surviving three years.
research Pathology of Mouse Models of Accelerated Aging
Progeroid mouse models show signs of early aging similar to humans, helping us understand aging better.
research Oral Manifestations of Hematologic and Nutritional Diseases
Recognizing oral symptoms can help diagnose and treat blood and nutritional diseases early.
research Beta-Caryophyllene Enhances Wound Healing Through Multiple Routes
Beta-caryophyllene, found in essential oils, helps wounds heal better in multiple ways.
research STUB1 Mutations in Autosomal Recessive Ataxias – Evidence for Mutation-Specific Clinical Heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research A Woman With Headaches And Blurred Vision
The woman was diagnosed with Vogt–Koyanagi–Harada disease and successfully treated with medication, restoring her vision and stopping headaches.
research Schmallenberg Virus Infection Suspected in a Calf Born to an Imported Heifer
A calf in Scotland likely had Schmallenberg virus from its mother.
research Trichotillomania with Giant Gastric Trichobezoar in a Female Child: A Case Report
An 11-year-old girl with Trichotillomania developed a large hairball in her stomach, treated with medication, therapy, and family education.
research Perspectives of Kennedy's Disease
Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
research Inherited Ichthyosis: Syndromic Forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Abnormal Saccadic Oscillations Associated with Severe Acute Respiratory Syndrome Coronavirus 2 Encephalopathy and Ataxia
A man developed neurological issues from SARS-CoV-2 without severe breathing problems, worsening to death.
research Progesterone, Neurosteroids, and the Hormonal Basis of Catamenial Epilepsy
Progesterone and related compounds may help control seizures linked to the menstrual cycle but have limitations that need addressing.
research Topically Applied Minoxidil May Cause Fetal Malformation: A Case Report
Minoxidil use during pregnancy may cause fetal harm.
research From Gene to Therapy in Spinal and Bulbar Muscular Atrophy: Are We There Yet?
Effective treatments for spinal and bulbar muscular atrophy are not yet available; more research is needed.
research Treating Psychogenic Nonepileptic Seizures: Easier Said Than Done
Progesterone treatment improved seizures in a woman with menstrual cycle-related epilepsy, but a wrong medication worsened her condition.
research Delayed Diagnosis of Kearns-Sayre Syndrome in a 38-Year-Old Male Patient: A Case Report
A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
research Implications of Neuroimaging for the Treatment of Epilepsy
Neuroimaging suggests that treatments targeting brain steroids could help control epilepsy, especially types linked to the menstrual cycle.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – Out of the Woods
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research Abstracts of 28th Annual Meeting of Turkish Society of Neuroradiology with International Participation, Conrad Istanbul Bosphorus, Istanbul, Turkey, February 15-17, 2019
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.