Subacute combined degeneration (SCD) is considered the neurological counterpart of pernicious anaemia because it is the paradigmatic neurological manifestation of acquired vitamin B12 (cobalamin (Cbl)) deficiency in adulthood. Hitherto, the theories advanced to explain the pathogenesis of SCD have postulated a causal relationship between SCD lesions and the impairment of either or both of two Cbl-dependent reactions. We have identified a new experimental model, the totally gastrectomised (TGX) rat, to reproduce the key morphological features of the disease, and found new mechanisms responsible for the pathogenesis of SCD. We have demonstrated that the neuropathological lesions in TGX rats are not only due to mere vitamin withdrawal but also to the overproduction of the myelinolytic tumour necrosis factor (TNF)-alpha, nerve growth factor, the soluble(s) CD40:sCD40 ligand dyad, and the reduced synthesis of the neurotrophic agents, epidermal growth factor and interleukin-6. Cbl replacement treatments normalised all of these abnormalities.
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Riga-Fede disease (RFD) is a rare, benign condition marked by traumatic ulceration on the tongue's ventral side in infants. It arises from friction between the tongue and lower incisors during sucking, potentially worsening into a keratinized lesion if the cause is not addressed. This report details the case of a 1-year-6-month-old male with hydrocephalus, cleft palate, corpus callosum dysgenesis, neuropsychomotor developmental delay, and tracheostomy and gastrostomy needs.
View Article and Find Full Text PDFEur J Pediatr
January 2025
Department of Woman, Child and General and Specialized Surgery, University of Campania 'Luigi Vanvitelli', Via Luigi De Crecchio 4, Naples, Italy.
Unlabelled: Sickle cell disease (SCD) is a global health problem causing premature deaths and preventable severe chronic complications. A priority goal to improve outcomes both in the short and long term is the screening for early diagnosis and access to specialized care. In Italy, as in other countries, no systematic national screening program is available.
View Article and Find Full Text PDFPacing Clin Electrophysiol
January 2025
Department of Cardiology, General Hospital of Northern Theater Command, Shenyang, People's Republic of China.
Background: The evidence in the primary prevention of sudden cardiac death (SCD) by using implantable cardioverter defibrillators (ICD) in patients with ischemic cardiomyopathy (ICM) is well-established but remains controversial for those with nonischemic cardiomyopathy (NICM). This study evaluates whether prognostic differences exist between ICM and NICM patients after ICD implantation.
Methods: Patients initially undergoing ICD implantation as primary SCD prevention were retrospectively enrolled from January 2017 to May 2023.
Spec Care Dentist
January 2025
Paediatric Dentistry, The University of Western Australia, Dental School, Perth, Australia.
Introduction: Aplastic anemia (AA) is a rare condition that frequently manifests with pancytopenia. Management of severe disease is through either allogenic stem cell transplantation or immunosuppressive therapy with supportive care. Drug-induced gingival overgrowth (DIGO) is a potential complication of a number of medications, including cyclosporine and amlodipine.
View Article and Find Full Text PDFJ Alzheimers Dis
January 2025
Comprehensive Center for Brain Health, Department of Neurology, Miller School of Medicine, University of Miami, Boca Raton, FL, USA.
Background: Declining physical functionality is an indicator of cognitive impairment, distinguishing normal cognition (NC) from dementia. Whether this extends to pre-dementia stages is unclear.
Objective: Assess physical performance patterns, evaluate relationships with imaging biomarkers, and identify specific measures distinguishing NC, subjective cognitive decline (SCD) and mild cognitive impairment (MCI).
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