18 hasil untuk "Jaime Lin"
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Artikel Jurnal
Behavioral approach to autism spectrum disorder: quality versus quantity in interventions
Objective: To discuss the importance of balancing quality versus quantity in behavioral interventions for individuals with Autism Spectrum Disorder (ASD), highlighting evidence-based approaches and the role of therapist training. Data sources: Narrative review of the literature examining…
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Pyridoxine-dependent epilepsy initially responsive to phenobarbital Epilepsia por dependência de piridoxina inicialmente responsiva ao fenobarbital
Pyridoxine-dependent epilepsy is a rare autossomal recessive disorder characterized by recurrent seizures that are not controlled by anticonvulsant medications but remits after administration of pyridoxine. We report on a 30 day-old girl who presented with seizures during the first day of life…
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Percepção e expressão de sintomas depressivos em três grupos culturais catarinenses: açorianos, italianos e alemães Perceptions of the symptoms of depression between members of three ethnic communities in Santa Catarina: azoreans, italians and germans
OBJETIVOS: Comparar a percepção da depressão, incluindo a percepção dos sintomas e dos tratamentos considerados apropriados, pelos membros de três grupos étnicos (descendentes de açorianos, italianos e alemães residentes em Santa Catarina, Estado da Região Sul do Brasil), assim como a expressão de…
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Investigação citogenética e molecular de casos de autismo atendidos em um ambulatório universitário no sul do Brasil
INTRODUCTION: The term syndromic autism is used to refer to cases of autism spectrum disorder (ASD) that have a defined cause. A complementary investigation method for the etiological determination of ASD is neurogenetic investigation, and autism can have a hereditary behavior in up to 90% of…
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Herpes Simplex Type 1 Encephalitis Restricted to the Brainstem in a Pediatric Patient
Herpes simplex encephalitis is a potentially fatal infection of central nervous system that typically involves frontal and temporal lobes. Occasionally, it presents an extratemporal involvement and in rarer cases, it is limited to the brainstem. We describe a case of an adolescent who presented…
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Prognostic factors predicting a fatal outcome in HIV-negative children with neurotuberculosis Fatores prognósticos de letalidade da neurotuberculose em crianças HIV-negativas
OBJECTIVE: To identify prognostic factors predicting a fatal outcome in HIV-negative children with neurotuberculosis based on clinical, epidemiological, and laboratory findings. METHOD: The clinical records of all in-patients diagnosed with neurotuberculosis from 1982 to 2005 were evaluated…
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Optic nerve enlargement in infantile form of Krabbe disease
Krabbe disease (KD) is an autosomal recessive lysosomal storage disorder caused by dysfunctional galactosylceramidase activity. Infantile form is the most common subtype, occurring at about 6-month of age. We present a rare case of infantile KD with magnetic resonance imaging showing white matter…
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Neuroradiological findings of an adolescent with early treated phenylketonuria: is phenylalanine restriction enough?
Phenylketonuria is caused by mutations in the enzyme phenylalanine hydroxylase gene, that can result in abnormal concentrations of phenylalanine on blood, resulting in metabolites that can cause brain damage. The treatment is based on dietary restriction of phenylalanine, and noncompliance with…
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Cystic leukoencephalopathy without megalencephaly Leucoencefalopatia cística sem megalencefalia
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Autism associated with 12q (12q24.31-q24.33) deletion: further report of an exceedingly rare disorder
ABSTRACT Chromosomal abnormalities are responsible for several congenital malformations in the world, some of these are associated to telomeric/subtelomeric deletions. The abnormalities involving the telomere of chromosome 12 are rare, with few reports of deletions involving 12q24.31 region in the…
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Sleep terrors antecedent is common in adolescents with migraine
Migraines and sleep terrors (STs) are highly prevalent disorders with striking similarities. The aim of this study was to evaluate the effect of the antecedent of STs by comparing adolescents suffering from migraines with healthy controls in a large consecutive series. METHODS: All patients were…
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Sleep terrors antecedent is common in adolescents with migraine O antecedente de terror noturno é frequente em adolescentes com migrânea
Migraines and sleep terrors (STs) are highly prevalent disorders with striking similarities. The aim of this study was to evaluate the effect of the antecedent of STs by comparing adolescents suffering from migraines with healthy controls in a large consecutive series. METHODS: All patients were…
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Health-related quality of life of patients with diabetic foot ulcers in Singapore: A cross-sectional and longitudinal analysis
Background Diabetic foot ulcers (DFUs) impose a substantial burden on healthcare systems worldwide, leading to a diminished health-related quality of life (HRQoL) characterised by reduced productivity and limited mobility. Objectives The aim of this cross-sectional and longitudinal study was to…
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Outcome evaluation and cost-effectiveness analysis for an integrated multidisciplinary diabetic limb salvage program: a combined observational and simulation study
Introduction To compare the clinical outcomes and healthcare utilization of patients enrolled in the multidisciplinary Diabetic Foot in Primary and Tertiary (DEFINITE) Care program with a matched historical cohort and estimate the program’s long-term cost-effectiveness using simulation.Research…