The effectiveness of the ketogenic diet in drug-resistant childhood epilepsy

2nd International Behcet Uz Children's Congress -- MAR 04-07, 2020 -- Izmir, TURKEYBackground. We aimed to investigate the effectiveness of ketogenic diet (KD) in children with various types of refractory epilepsy. Methods. A total of 91 children (49 females) aged 3 to 193 months (median, 52 months) with drug resistant epilepsy who received KD treatment for at least 12 months were enrolled in the study. Seizure frequency, adherence to diet, reason for discontinuation of KD, and adverse effects were recorded. Response was defined as >= 50% improvement in seizure frequency compared to baseline. We also searched for influences of different variables on the outcome. Results. Intent-to-treat analysis revealed an improvement in seizure frequency for >= 50% in 73.6%, 80.2%, 75.8%, 73.6%, and 70.3% of patients at month-1,-3,-6,-9, and month-12, respectively. Overall, 32 (35.2%) patients remained seizure-free at month-12. There was no significant differences between responders and non responders in terms of age at onset of epilepsy, age at onset of KD, gender, or etiology. Mild hyperlipidemia was associated with a higher response rate. At the last follow-up (median: 20 months), 38 (41.8%) patients were still maintained on KD. While 15.4% of patients completed the diet with a success in seizure control, remainder discontinued KD due to lack of efficacy (23.1%), non-adharence to diet (11%), intercurrent infection (4.4%), adverse effects (3.3%), and death (1.1%). Conclusion. Ketogenic diet treatment appears to be effective in about two-thirds of children with various types of drug-resistant epilepsy, including one-third remaining seizure free. Mild hyperlipidemia seems to be associated with a higher response rate. Discontinuation of KD is mostly due to lack of efficacy or nonadherence, and rarely side effects

Case Report A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate

In treatment of metabolic imbalances caused by maple syrup urine disease (MSUD), peritoneal dialysis, and hemofiltration, pharmacological treatments for elimination of toxic metabolites can be used in addition to basic dietary modifications. Therapy with sodium phenylacetate/benzoate or sodium phenylbutyrate (NaPB) in urea-cycle disorder cases has been associated with a reduction in branched-chain amino acid (BCAA) concentrations when the patients are on adequate dietary protein intake. Moreover, NaPB in treatment of MSUD patients is also associated with reduction of BCAA levels in a limited number of cases. However, there are not enough studies in the literature about application and efficacy of this treatment. Our case report sets an example of an alternative treatment's efficacy when extracorporeal procedures are not available due to technical difficulties during attack period of the disease

Clinical, Neuroimaging, and Genetic Features of the Patients with L-2-Hydroxyglutaric Aciduria

Aim:L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive encephalopathy caused by mutations in the L-2-hydroxyglutarate dehydrogenase gene.Materials and Methods:Here we discuss the clinical and molecular characteristics in patients with L2HGA.Results:There were eight patients with L2HGA. Their median age was 16 (9.5-37) years. Five of them were female and three of them were male. The main symptoms of the patients were psychomotor retardation (8/8), cerebellar ataxia (5/8), extrapyramidal symptoms (7/8) and seizures (4/8). All patients had behavioral problems. Elevated urinary L-2-hydroxy (L-2-OH) glutaric acid was detected and the median level of urine L-2-OH glutaric acid at diagnosis was 146 (60-1460 nmol/mol creat). Characteristic magnetic resonance imaging findings including subcortical cerebral white matter abnormalities with T2 hyperintensities of the dentate nucleus, globus pallidus and putamen were detected. Two patients had homozygous R335X, two patients had homozygous R282Q, two patients had homozygous R302L and one patient had compound heterozygous P302L/A64T mutation in L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene.Conclusion:Because of the slow progression of the disease, the diagnosis of the patients is usually belated. L2HGA must be considered in the differential diagnosis based on clinical findings and specific findings in cranial magnetic resonance imaging. In our study, one of our patients has a novel mutation

Primer nörotransmitter metabolizma kusurları

The neurotransmitter metabolism disorders are a group of inherited metabolic disorders that are caused by defective synthesis, breakdown and/or transport of neurotransmitters . These diseases may be easily misdiagnosed as hypoxic ischemic encephalopathy and cerebral palsy . Without sufficient physical examination, clinical assessment and further cerebrospinal fluid analysis the correct diagnosis imay not be possible. Clinical suspicion is the most important step in the diagnostic process. In this review, we aimed to summarize the current knowledge about primary monoamine neurotransmitter disorders and recent advances in therapeutic strategiesNörotransmitter metabolizma kusurları, nörotransmitter sentezi, yıkımı ve/veya taşınımındaki bozukluklardan kaynaklanan kalıtımsal metabolik hastalık grubudur. Bu grup hastalıklar kolaylıkla hipoksik iskemik ensefalopati veya serebral palsi gibi yanlış tanılar alabilir. Yeterli klinik değerlendirme, fizik muayene ve beyin omurilik sıvısı analizleri olmadan tanı koyulması olası olmayabilir. Klinik şüphe tanısal süreçteki en önemli basamaktır. Bu derlemede, primer monoamine nörotransmitter metabolizma bozuklukları alanında günümüze kadar edinilmiş bilgilerin ve tedavi stratejilerindeki yeni gelişmelerin özetlenmesi amaçlanmıştı

Speech act disambiguation and prosody: The case of French indirect requests

In this experimental research, we explore the intonational patterns associated with indirect requests (IRs) in French. Specifically, we ask which intonational cues are used by speakers of French when producing and interpreting IR expressions

Clinical and Molecular Features of Our Pompe Patients: Single-Center Experience

Introduction: Pompe disease (PD), glycogen storage disease Type II (GSD II), is an autosomal recessive inherited lysosomal storage disease caused by pathogenicvariants in the GAA gene that encodes lysosomal acid ?-glucosidadase (GAA) enzyme. The incidence of the disease varies from country to country. PD is mainlypresents as two groups of phenotypes as infantile-onset Pompe disease (IOPD) and late-onset Pompe disease.Objective: The aim of this study is to discuss the molecular and clinical characteristics of infantile-onset Pompe disease (IOPD) and late-onset pompe disease(LOPD) followed-up in our center.Method: A total of 10 patients diagnosed with IOPD and 4 patients diagnosed with LOPD in Izmir Dr. Behcet Uz Pediatric Health and Diseases and Surgery Trainingand Research Hospital Pediatric Metabolism Unit between 06.01.2015 and 06.01. 2019 were included in the study. The patients’ demographic characteristics,clinical findings at the time of diagnosis and during the folllow-up period, biochemical findings, muscle biopsy data, results of enzymatic analyses and moleculargenetic characteristics were recorded retrospectively.Results: A total of 10 patients were included in the study. 7 patients were diagnosed with IOPD and 3 patients with LOPD. The median follow-up period of allpatients was 26 months (range: 6-42 months). The c.896 C> T (8/32, 25%) is detected as the most common variant. 1237G>T (p.Asp413Tyr), c.2019 C>A(p.Asn673Lys), c.418A>T (p.Asn140Tyr) variants were detected for the first time.Conclusion: Pompe disease is one of the most important congenital metabolic diseases in which early diagnosis and treatment are of great importance. Despitethe significant improvement in disease prognosis with the introduction of enzyme replacement therapy, there are still patients with poor prognosis despite earlydiagnosis. Phenotype-genotype studies are crucial in this respect