RESUMO
Epilepsy surgery and intracranial monitoring have a long history in the Kingdom of Saudi Arabia, spanning over 30 years. Stereo-EEG however, is a more recent offering. In this short communication, we discuss how Stereo-EEG has grown in the context of the Kingdom's healthcare model and the Vision 2030 model. We discuss the various positives of this technique and methodology as well as the various challenges that the hospitals offering Stereo-EEG have faced.
RESUMO
BACKGROUND: A significant proportion of the people with intellectual disabilities (ID) has epilepsy and lives in institutions. These patients tend to have atypical presentations of epileptic seizures with an increased risk of misdiagnoses. They often have drug-resistant epilepsy (DRE) requiring polypharmacy with increased risk of morbidity. The aim of this study was to determine the usefulness of Epilepsy Monitoring Unit (EMU) in the diagnosis and management of these patients. METHODS: This is a retrospective observational study of people with epilepsy and ID living in institutions that were admitted to the EMU at London Health Sciences Center (LHSC), from January 2014 to December 2016. RESULTS: Out of 1121 patients admitted to the EMU at the LHSC, 1.96% (Nâ¯=â¯22) fulfilled the inclusion criteria for this study. The mean age was 34.5â¯years (interquartile range [IQR]: 28.8-53); 50%(Nâ¯=â¯11) were female. Fourteen (63.6%) had generalized epilepsy. Six (27.3%) had a history of status epilepticus. The mean number of antiseizure medications (ASMs) in those patients was three (IQR: 2-4). Eight (36.4%) patients had severely impaired or no language skills and seven (31.8%) required wheelchair. Eleven (50%) had a mood disorder and seven (31.8%) of them were taking antipsychotic medications. The mean duration of admission duration was 6.6â¯days (IQR: 3.5-8.5). There was a clinical-electrographic correlation between the behavioral events and epileptic seizures in nineteen (86.4%) of the patients. CONCLUSIONS: Admission to the EMU provided an accurate characterization of transient events in people with ID and epilepsy with improvement in their medical management.
Assuntos
Epilepsia/diagnóstico , Unidades Hospitalares/tendências , Deficiência Intelectual/diagnóstico , Monitorização Fisiológica/tendências , Admissão do Paciente/tendências , Adolescente , Adulto , Erros de Diagnóstico/prevenção & controle , Erros de Diagnóstico/tendências , Epilepsia/epidemiologia , Epilepsia/fisiopatologia , Feminino , Hospitalização/tendências , Humanos , Deficiência Intelectual/epidemiologia , Deficiência Intelectual/fisiopatologia , Londres/epidemiologia , Masculino , Pessoa de Meia-Idade , Monitorização Fisiológica/métodos , Estudos Retrospectivos , Adulto JovemRESUMO
OBJECTIVES: To investigate the susceptibility of partially desalivated rats to erosive tooth wear (ETW); the anti-erosive effect of a calcium-supplemented beverage; and the quantification of ETW by microcomputed tomography (micro-CT). METHODS: The study population consisted of thirty-eight rats, divided into partially desalivated (n = 19) and normal salivary flow (n = 19). They were randomly allocated into three subgroups (n = 6-7): A-diet soda, B-diet soda + calcium, C-water (control). Solutions were provided ad libitum for 28 days, and the rats were euthanized afterwards. Each left hemi-mandible was scanned using micro-CT for enamel volume (three molars) calculation. Visual analysis of photographs of the lingual surface of first molars was performed independently by three blinded examiners. Data were statistically analysed (α = .05). RESULTS: Micro-CT revealed no significant differences between partially desalivated or normal groups. Rats consuming A had more enamel loss than those consuming B or C, which did not differ from each other. For visual analysis, desalivation did not affect ETW. Rats consuming C showed the lowest ETW, followed by B and then A, for both partially desalivated and normal rats. Spearman correlation between the two ETW quantification methods was -.65. CONCLUSIONS: Partial desalivation did not increase ETW. Ca-containing beverage prevented ETW. Micro-CT quantified ETW, although it was not as sensitive as visual analysis.
Assuntos
Cálcio/administração & dosagem , Bebidas Gaseificadas , Salivação , Erosão Dentária/etiologia , Animais , Suscetibilidade a Doenças , Masculino , Ratos , Glândula Sublingual/cirurgia , Glândula Submandibular/cirurgia , Erosão Dentária/diagnóstico por imagem , Erosão Dentária/prevenção & controle , Microtomografia por Raio-XRESUMO
Neuronal ceroid lipofuscinoses (NCLs) are a group of lysosomal neurodegenerative disorders that have in common the characteristic accumulation of abnormal storage material. Old clinical classification based on age of onset is now being revisited with the quickly accumulating knowledge of the various genetic defects that underlie this group of genetically heterogeneous disorders. We report our linkage data on a family with late-infantile NCL and show that the disease in this family is due to a homozygous novel mutation in the most recently described NCL gene (MFSD8). We use clinical data from our patients and the few others that have previously been reported to delineate the phenotype associated with mutations in this gene. We conclude that the phenotype is fairly consistent, which is a helpful guide to clinicians as they decide on the most cost-effective molecular testing strategies for NCLs.