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| http://dx.doi.org/10.1136/bmj.328.7430.50-b | DOI Listing |
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Selumetinib for children with neurofibromatosis type 1 and plexiform neurofibromas that can't be removed by surgery, and impact on how the condition affects caregivers: a plain language summary.
J Comp Eff Res
January 2025
Head of the 3rd Neuropsychiatric Department of the Research Clinical Institute of Childhood of the Moscow Region, Moscow, Russia.
What Is This Summary About?: Neurofibromatosis type 1 (also called NF1) is a rare genetic condition. It causes a range of symptoms that develop from childhood onwards and worsen over time. Some children with NF1 develop non-cancerous nerve tumors called plexiform neurofibromas.
View Article and Find Full Text PDFMitochondrial DNA variants in the pathogenesis and metabolic alterations of diabetes mellitus.
Mol Genet Metab Rep
March 2025
Department of Biochemistry, JSS Medical College and Hospital, JSS-AHER, Mysuru 570015, India.
Mitochondrial DNA (mtDNA) variants considerably affect diabetes mellitus by disturbing mitochondrial function, energy metabolism, oxidative stress response, and even insulin secretion. The m.3243 A > G variants is associated with maternally inherited diabetes and deafness (MIDD), where early onset diabetes and hearing loss are prominent features.
View Article and Find Full Text PDFCo-designing a film showcasing the dental experiences of community returners (ex-offenders).
Front Oral Health
January 2025
Centre for Dental Public Health and Primary Care, Institute of Dentistry, Queen Mary University of London, London, England.
Background: The oral health of over 90,000 individuals in UK prisons is four times worse than the general population. A recent scoping review on the oral health of prisoners inside the justice system highlighted the lack of research about what happens when they transition out of prison to become community returners.
Objectives: To co-design a film to showcase the dental experiences of community returners before and after they transition out of prison, change perceptions and inform oral health research priorities.
Modeling of auditory neuropathy spectrum disorders associated with the variant reveals impaired gap junction function of iPSC-derived glia-like support cells.
Front Mol Neurosci
January 2025
Department of Otorhinolaryngology, The Affiliated Changsha Central Hospital, Hengyang Medical School, University of South China, Changsha, China.
Auditory neuropathy spectrum disorder (ANSD) is an auditory dysfunction disorder characterized by impaired speech comprehension. Its etiology is complex and can be broadly categorized into genetic and non-genetic factors. mutation is identified as a causative factor in ANSD.
View Article and Find Full Text PDFAutoimmune sensorineural hearing loss/Meniere's disease possibly triggered by neurocysticercosis: a case report.
J Med Case Rep
January 2025
Centers for Advanced Ent, Woodbridge, VA, US.
Background: Meniere's disease arises when an abnormal fluid accumulation results in heightened pressure within the inner ear or labyrinth. Its symptoms encompass vertigo, tinnitus, hearing loss, and a sensation of fullness in the ear. Various triggers for Meniere's disease are known, from smoking and alcohol consumption to recent viral illnesses, allergies, and anxiety.
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