6 research outputs found
A First Case Report of Subependymoma in PTPN11 Mutation-Associated Noonan Syndrome
No full textNoonan syndrome (NS) is an autosomal dominant disorder in some cases caused by PTPN11 mutations. Since somatic mutations in PTPN11 are seen in several tumor types, NS which causes germline PTPN11 mutations are also increase the risk of hematologic malignancies and brain solid tumors. However, the report of brain tumors in Noonan syndrome remains rather rare. Here, we report the first case of an 11-year-old Thai boy with Noonan syndrome who presented with symptoms related to hydrocephalus secondary to subependymoma in the fourth ventricle, and PTPN11 mutation was identified in this patient
X-Linked Chronic Granulomatous Disease: Initial Presentation with Intracranial Hemorrhage from Vitamin K Deficiency in Infant
No full textVitamin K deficiency bleeding (VKDB) is a life-threatening condition and can be found in children as early as neonatal period with early onset intracranial hemorrhage (ICH). Here, we reported a 1-year-old boy who initially presented with intracranial hemorrhage secondary to vitamin K deficiency since 3 months of age and later found to have XL-CGD which was complicated by malabsorption due to severe vaccine-associated mycobacterial disease
Effectiveness and Adverse Effect of Intravenous Lacosamide in Nonconvulsive Status Epilepticus and Acute Repetitive Seizures in Children
No full textNonconvulsive status epilepticus (NCSE) and acute repetitive seizures (ARS) are associated with significant morbidity and mortality. Due to the lack of randomized-controlled trials of intravenous antiepileptic drugs (AEDs) in these conditions, trials of a new generation of AEDs in this aspect are needed. A prospective interventional study was conducted in children under 18 years of age with NCSE or ARS who either had contraindication to or were refractory to first-line AEDs and received intravenous lacosamide. Demographic data, the efficacy of treatment, and adverse effects were recorded. Eleven patients with a median age of 11 years, predominantly female (72.7%), were enrolled. Average loading dose was 227 mg (8.3 mg/kg/dose) and average daily maintenance dose was 249 mg (4.6 mg/kg/dose). All patients (100%) experienced a reduction in seizure frequency within 24 hours. Eight of eleven patients (72.7%) experienced a reduction in seizure frequency of more than 50% by the end of the study, and one patient became seizure-free. In terms of adverse events, one patient had a bradycardia without prolongation of the PR interval. Interestingly, there was a case of neuronal ceroid lipofuscinosis in which a significant improvement in seizure control was achieved. The results indicate that intravenous lacosamide may be an alternative treatment for NCSE or ARS in children. To our knowledge, this is the first study on the use of intravenous lacosamide in Asian children. This study is registered to Thai Clinical Trials Registry (TCTR) and the trial registration number is TCTR20180508004
Spinal muscular atrophy in an upper-middle-income nation before the advent of reimbursed disease-modifying therapies
No full textObjective To elucidate the clinical characteristics and standard of care (SoC) of spinal muscular atrophy (SMA) patients in Thailand, focusing on primary endpoints: age at death and a composite of death or tracheostomy need.Design Retrospective observational study.Setting Seven tertiary centres across Thailand.Patients Records of 110 patients with genetically confirmed SMA, spanning 2012–2021.Interventions Historical data review; no active interventions.Main outcome measures Age at death and a composite measure of death or tracheostomy necessity.Results The cohort included 1 SMA0, 50 SMA1, 40 SMA2 and 19 SMA3 cases. Median ages at the onset and diagnosis of SMA1 were 3 and 6.2 months. Of SMA1 patients, 63% required ventilators, and eight received dimethyltryptamines (DMTs) at a median of 15 months (range 6.4–24.5 months). The median time from onset to DMT was 11 months (range 4.2–20.5 months). Among SMA1 patients, 73% died by the study’s end. SMA2 and SMA3 patients' median onset ages were 11 and 24 months, respectively, with diagnosis at 24.8 and 68.7 months. Half of all types received physical therapy.Conclusions Significant delays in diagnosis and SoC access, including DMTs, were observed, underscoring urgent needs for improved diagnostic and care strategies to enhance SMA patient outcomes in Thailand
Data_Sheet_1_Mitochondrial genome diversity of Balamuthia mandrillaris revealed by a fatal case of granulomatous amoebic encephalitis.docx
No full textIntroductionBalamuthia (B.) mandrillaris is a free-living amoeba that can cause rare yet fatal granulomatous amoebic encephalitis (GAE). However, efficacious treatment for GAE is currently unavailable, especially when genomic studies on B. mandrillaris are limited.MethodsIn this study, B. mandrillaris strain KM-20 was isolated from the brain tissue of a GAE patient, and its mitochondrial genome was de novo assembled using high-coverage Nanopore long reads and Illumina short reads.Results and DiscussionPhylogenetic and comparative analyses revealed a range of diversification in the mitochondrial genome of KM-20 and nine other B. mandrillaris strains. According to the mitochondrial genome alignment, one of the most variable regions was observed in the ribosomal protein S3 (rps3), which was caused by an array of novel protein tandem repeats. The repeating units in the rps3 protein tandem region present significant copy number variations (CNVs) among B. mandrillaris strains and suggest KM-20 as the most divergent strain for its highly variable sequence and highest copy number in rps3. Moreover, mitochondrial heteroplasmy was observed in strain V039, and two genotypes of rps3 are caused by the CNVs in the tandem repeats. Taken together, the copy number and sequence variations of the protein tandem repeats enable rps3 to be a perfect target for clinical genotyping assay for B. mandrillaris. The mitochondrial genome diversity of B. mandrillaris paves the way to investigate the phylogeny and diversification of pathogenic amoebae.</p
Efficacy of delivery of care with Tele-continuous EEG in critically ill patients: a multicenter randomized controlled trial (Tele-cRCT study) study
No full textBACKGROUND: Continuous electroencephalography (cEEG) has been recommended in critically ill patients although its efficacy for improving patients' functional status remains unclear. This study aimed to compare the efficacy of Tele-cEEG with Tele-routine EEG (Tele-rEEG), in terms of seizure detection rate, mortality and functional outcomes.METHODS: This study is a 3-year randomized, controlled, parallel, multicenter trial, conducted in eight regional hospitals across Thailand. Eligible participants were critically ill patients aged ≥ 15 years and at-risk for developing nonconvulsive seizure (NCS)/nonconvulsive status epilepticus (NCSE). Study interventions were 24-72 h Tele-cEEG versus 30-min Tele-rEEG. Study outcomes were seizure detection rate, mortality and functional outcomes (mRS), assessed at hospital discharge, ≤ 7 days, 3-, 6-, 9-months and 1 year.RESULTS: Two hundred and fifty-four patients were randomized, 128 and 126 patients received Tele-cEEG and Tele-rEEG, respectively. NCS/NCSE were detected more commonly in the Tele-cEEG (21.88%) than Tele-rEEG arm (14.29%) but this was not statistically significant (p = 0.116). Intention-to-treat, per-protocol and as-treated analysis showed non-significant differences in mortality at all assessment periods, with corresponding mortality rates of 10.03% (Tele-cEEG) versus 10.10% (Tele-rEEG) (p = 0.894), 9.67% versus 9.06% (p = 0.833) and 10.34% versus 9.06% (p = 0.600), respectively. Functional outcome was also not significantly different in all analyses.CONCLUSIONS: Both Tele-cEEG and Tele-rEEG are feasible, although Tele-EEG requires additional EEG specialists, budget, and computational resources. While Tele-cEEG may help detect NCS/NCSE, this study had limited power to detect its efficacy in reducing mortality or improving functional outcomes. In limited-resource settings, Tele-rEEG approximating 30 min or longer offers a feasible and potentially valuable initial screening tool for critically ill patients at-risk of seizures. However, where Tele-cEEG is readily available, it remains the recommended approach. Trial registration Thai Clinical Trials Registry (TTCTR20181022002); Registered 22 October 2018.</p
