Altered gut microbiome profiles in epileptic children are associated with spectrum of anti-seizure medication responsiveness.

Gut microbiota plays a role in epilepsy. However, current knowledge of how gut dysbiosis is associated with a response to anti-seizure medications (ASMs) in epileptic children is still limited. We aimed to characterize the gut microbiota profiles in epileptic children based on response to ASMs.

Adjuvant High-Dose Erythropoietin With Delayed Therapeutic Hypothermia in Neonatal Hypoxic-Ischemic Encephalopathy.

Background: To evaluate the benefits of high-dose erythropoietin (EPO) combined with therapeutic hypothermia (TH) on brain magnetic resonance imaging (MRI) scores and neurodevelopmental outcomes in neonates with moderate to severe hypoxic-ischemic-ecephalopathy (HIE), especially in neonates who received TH between six to 12 hours of birth.

Methods: This prospective, single-blind, randomized, placebo-controlled trial enrolled term newborns with moderate to severe HIE admitted to neonatal intensive care unit between April 2018 and April 2022. Hypothermia was started within 12 hours of birth.

Spinal muscular atrophy in an upper-middle-income nation before the advent of reimbursed disease-modifying therapies.

Objective: 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.

Cardiac dysfunctions in children with drug-resistant epilepsy.

Objective: There were reports of cardiac dysfunction that led to sudden unexpected death in epilepsy (SUDEP) in patients with epilepsy. Early detection of cardiac dysfunction can lead to early management to prevent sudden cardiac death in these patients. The objective of our study is to assess cardiac functions in children with drug-resistant epilepsy (DRE) compared with the normal population by using a standard echocardiogram (SE), tissue Doppler imaging (TDI) and myocardial strain evaluations (MSE).

Dental Anomalies in Ciliopathies: Lessons from Patients with , and Mutations.

Objective: To investigate dental anomalies and the molecular etiology of a patient with Ellis−van Creveld syndrome and two patients with Bardet−Biedl syndrome, two examples of ciliopathies. Patients and Methods: Clinical examination, radiographic evaluation, whole exome sequencing, and Sanger direct sequencing were performed. Results: Patient 1 had Ellis−van Creveld syndrome with delayed dental development or tooth agenesis, and multiple frenula, the feature found only in patients with mutations in ciliary genes.

Short-term outcome of perinatal hypoxic-ischaemic encephalopathy at Chiang Mai University Hospital, Thailand: a 15-year retrospective study.

Background: The outcome of perinatal hypoxic-ischaemic encephalopathy (HIE) in middle-to-low-income countries varies between regions.

Objectives: To determine the mortality and morbidity, and factors influencing the deaths of infants with perinatal HIE.

Methods: A retrospective study was conducted at Chiang Mai University Hospital, Thailand.

Clinical and Genetic Studies of the First Monozygotic Twins with Pfeiffer Syndrome.

Objective: To report the clinical and radiographic findings and molecular etiology of the first monozygotic twins affected with Pfeiffer syndrome. Methods: Clinical and radiographic examination and whole exome sequencing were performed on two monozygotic twins with Pfeiffer syndrome. Results: An acceptor splice site mutation in FGFR2 (c.

Diffuse neonatal hemangiomatosis with a single atypical cutaneous hemangioma.

Diffuse neonatal hemangiomatosis (DNH) is an extremely rare but deadly neonatal condition which presents as multiple cutaneous hemangiomas and hemangiomas in 3 or more visceral organs. DNH is usually suspected when multiple hemangiomas are found on the skin of the baby. We hereby present an interesting case in a newborn whose diagnosis was made from multiple intracranial, hepatic, and intramuscular hemangiomas, but with a single and unusual cutaneous manifestation over the right ankle.

Comparison of Arterial Ischemic and Hemorrhagic Pediatric Stroke in Etiology, Risk Factors, Clinical Manifestations, and Prognosis.

Background: Stroke is relatively rare in children but has a significant impact on long-term morbidity and mortality. There are limited data regarding the etiology, clinical manifestation, and prognosis of arterial ischemic stroke (AIS) and hemorrhagic stroke (HS) in children.

Objective: The aim of this study is to identify and compare etiology, risk factors, clinical manifestations, and prognostic outcomes between arterial ischemic and hemorrhagic pediatric stroke.

Risk factors of epilepsy in children with complex febrile seizures: A retrospective cohort study.

Background: Febrile seizures are the most common seizures in children. Children with complex febrile seizures have a higher risk of subsequent epilepsy compared with children with simple febrile seizures. Multiple risks factors for epilepsy, including focal status epilepticus, family history of epilepsy, neurodevelopmental abnormalities and abnormal electroencephalogram findings, have been found with inconsistent results.

Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients.

Background: Sandhoff disease (SD) is an autosomal recessive lysosomal storage disorder, resulting in accumulation of GM2 ganglioside, particular in neuronal cells. The disorder is caused by deficiency of β-hexosaminidase B (HEX-B), due to pathogenic variant of human HEXB gene.

Method: This study describes clinical features, biochemical, and genetic defects among Thai patients with infantile SD during 2008-2019.

Pericardial effusion and cardiac tamponade after ventriculoperitoneal shunt placement: a case report.

Insertion of a ventriculoperitoneal shunt is a common neurosurgical procedure in both adult and paediatric patients. It is one of the most important treatments in cases of hydrocephalus; however, there is a wide range of complications: the most common complication being a shunt infection, and examples of rare complications are shunt migrations and cardiac tamponade. Several reports of distal ventriculoperitoneal shunt migration in different sites, including chest, right ventricle, pulmonary artery, bowel and scrotum were published.

Clinical Prediction Rule of Drug Resistant Epilepsy in Children.

Background And Purpose: Clinical prediction rules (CPR) are clinical decision-making tools containing variables such as history, physical examination, diagnostic tests by developing scoring model from potential risk factors. This study is to establish clinical prediction scoring of drug-resistant epilepsy (DRE) in children using clinical manifestationa and only basic electroencephalography (EEG).

Methods: Retrospective cohort study was conducted.

Vincristine-induced polyneuropathy in a child with stage I Wilms' tumour presenting with unilateral abducens nerve palsy.

A 4-year-old boy presented with right esotropia while receiving vincristine and dactinomycin for stage I Wilms' tumour according to the National Wilms Tumour Study-5 protocol. On examination, he had isolated limitation of his right lateral gaze. CT of the brain and cerebrospinal fluid examination were normal.

Case series: the paradox of epilepsy surgery and psychiatric disorder.

De novo psychiatric disorder following epilepsy surgery is an infrequent but very interesting phenomenon. The authors described 4 distinct cases with medically intractable epilepsy who had epilepsy surgery and developed postsurgical psychiatric disorder. The onset of psychiatric disorder was during dramatic improvement of their epilepsy after surgery.

Long-term follow-up of febrile infection-related epilepsy syndrome.

Purpose: Febrile infection-related epilepsy syndrome (FIRES) is an increasingly recognized epileptic syndrome that presents with multifocal refractory status epilepticus in previously normal children and evolves into a chronic, refractory, focal epilepsy with associated cognitive and behavioral difficulties. Herein we describe the features of the chronic epilepsy and critically review evidence for the etiology of this syndrome.

Methods: Seven patients with FIRES were studied.

Outcome of medulloblastoma in children treated with reduced-dose radiation therapy plus adjuvant chemotherapy.

Medulloblastoma is the most common malignant brain tumor in children. Post-surgical craniospinal irradiation (CSI; 30-36 Gy) plus local boost radiation therapy (RT; 54-56 Gy) is a standard treatment for children with medulloblastoma who are over 3 years old, resulting in a 5-year overall survival (OS) rate of 46% to 65% in average-risk patients and 50% in high-risk patients. The addition of chemotherapy has the benefit of reducing complications from radiation and improving the OS rate.

Progressive Multifocal Leukoencephalopathy in HIV-Infected Children: A Case Report and Literature Review.

We report a case of a perinatally HIV-infected patient aged 9 years, who presented with right-sided hemiplegia. His initial CD4 T-cell was of 0.21% (4 cells/muL) and plasma HIV RNA virus of 185 976 copies/mL (log 5.

Primary hypomagnesemia in Thai infants: a case report with 7 years follow-up and review of literature.

A female Thai baby born to non-consanguineous parents, presented with primary hypomagnesemia at 10 weeks of age, and suffered recurrent convulsions that responded to magnesium supplementation. She was found to have hypomagnesemia (Mg 0.35-1.