Neonatal convulsion

Extreme heat caused by climate change is increasing transmission of infectious diseases resulting in a sharp rise in heat-related illness and mortality. Understanding mechanistic link between heat, inflammation and disease is thus important for public health. Thermal hyperpnea, and consequent respiratory alkalosis is crucial in febrile seizures and convulsions induced by heat stress in humans. Here we address what causes thermal hyperpnea in neonates and how is it affected by inflammation. TRPV1, a heat-activated channel is sensitized by inflammation and modulates breathing, and thus may play a key role...

INTRODUCTION: The impact that vitamin D (vit D) has on a variety of medical conditions like diabetes, cardiovascular, oncological, and central nervous system disorders has been a topic of interest for many years now. It is well-known that vit D deficiency is substantially more common in epileptics than in healthy subjects. The current research was piloted to analyse the vit D levels of the blood in newborns with seizures, as well as mothers' vit D status included subjects. MATERIALS AND METHODS: A cross-sectional examination was piloted at a tertiary care center, which had a neonatal intensive care unit (NICU)...

Hypoglycaemia is one of the most common causes of convulsions in neonatal period. Repeated hypoglycaemic convulsions have to be addressed with utmost urgency to prevent its morbid sequelae. Repeated ketotic hypoglycaemia in the infantile period needs detailed endocrine evaluation. Our patient is a boy in the third year of his life, had presented in infancy with hypoglycaemic convulsions and hyperpigmentation of skin and mucous membrane. Investigations revealed ketotic hypoglycaemia, hypocortisolaemia with high adrenocorticotropic hormone (ACTH) and normal aldosterone, 17-hydroxyprogesterone (17-OHP) and testosterone levels...

BACKGROUND: Neonatal sepsis made the neonatal period the most perilous time for child survival, and it continued to cause preventable mortalities worldwide. These mortalities stem from the interaction of several factors that have not been sufficiently studied and, in some cases, remain overlooked. Thus, the study aims to investigate the predictors of mortality that arise from the interaction of these factors and quantitatively determine their etiologic fraction. METHODS: A case-control study with hierarchical data input was conducted at Jimma Medical Center (JMC) in Oromia, Ethiopia, spanning from May 2022 to July 2023...

Childhood febrile seizures (FS) represent one of the most common types of seizures and may lead to severe neurological damage and an increased risk of epilepsy. However, most children with fevers do not show clinical manifestations of convulsions, and the consequences of hyperthermia without seizures remain elusive. This study focused on hyperthermia not reaching the individual's seizure threshold (sub-FS stimulus). Changes in thrombospondin-1 (TSP-1) levels, synapses, seizure susceptibility, and seizure severity in subsequent FS were investigated in rats exposed to sub-FS stimuli...

BACKGROUND: Globally, eclampsia is the leading cause of maternal and neonatal morbidity and mortality. OBJECTIVE: The present community-based study was conducted among rural tribal women of reproductive age in remote villages of central India to determine their awareness of eclampsia and its likely impact. METHODS: This cross-sectional analytic study included randomly selected 4500 tribal women, between 15 and 45 years of age, residing in 140 villages in the proximity of one village with a health facility (study center), and who were willing to undergo a personal interview...

INTRODUCTION: Cases with early diagnosis of neonatal tuberous sclerosis syndrome (TSC) are relatively seldom seen, and misdiagnosis of intracranial hemorrhage is even more rare. We retrospectively analyzed the clinical data of a case of neonatal tuberous sclerosis with atypical early symptoms and misdiagnosed as more common intracranial hemorrhage of the newborn. PATIENT CONCERNS: The child was female and had no obvious cause of convulsion 12 days after birth. The local hospital was initially diagnosed as "neonatal intracranial hemorrhage, congenital heart disease," and still had convulsions after 5 days of treatment, so it was transferred to neonatal intensive care unit of our hospital...

The pandemic Covid-19 affects mainly adult causing fatal illness specially who have co-morbidities. But as days pass by with increasing surveillances it's gradually obvious that this devastating disease also affects the children as well as neonates with greater number. The aim of study was to determine the Covid-19 in neonates. So, we can give proper emphasis on neonatal Covid-19. This cross-sectional study was conducted from April 2020 to September 2020 at Dhaka Shishu (Children) Hospital in Bangladesh. Neonates with suspected Covid-19 were tested for SARS-CoV-2 by RT- PCR...

AIM: There has been limited research about the associations between pre-eclampsia and neonatal complications in relation to gestational age. This register-based study aimed to address that gap in our knowledge. METHODS: We used Swedish Medical Birth Register to carry out a population-based study on primiparas with singleton pregnancies from 1999 to 2017. Descriptive statistics and logistic regressions were used to study the associations between pre-eclampsia and neonatal complications in different gestational ages...

Caffeine is a psychoactive substance that is widely consumed by individuals of various demographics, including pregnant women. It can readily cross the blood-brain and placental barriers, easily reaching the fetal brain. In addition, caffeine has also shown antioxidant properties, as its consumption reduces oxidative stress in various pathologies, including epilepsy. Febrile seizures (FS) are among the most common convulsive disorders in infants and young children. Here, we used an animal model of FS to learn whether maternal caffeine (1 g/L) intake consumption during gestation and lactation could exert beneficial effects on the rat cortex...

OBJECTIVE: De novo mutations of the voltage-gated sodium channel SCN8A cause developmental and epileptic encephalopathy (DEE). Most pathogenic variants result in gain-of-function changes in Nav 1.6 activity, poorly controlled seizures, and significant comorbidies. In previous work, an antisense oligonucleotide (ASO) reduced Scn8a transcripts and increased lifespan after neonatal administration to a mouse model. Here, we tested long-term ASO treatment initiated after seizure onset, as required for clinical application...

3-Methylglutaconic aciduria type 1 (MGCA1) is an inborn error of leucine catabolism caused by pathogenic variants of the AUH gene. MGCA1 can be identified by newborn screening (NBS) with elevated C5-OH levels. We herein report a girl with MGCA1 detected by NBS. On day 5 after birth, NBS detected high C5-OH levels of 1.17 μmol/L (1.56 μmol/L [retest]). A urinary organic acid analysis revealed the abnormal excretion of 3-methylglutaconic, 3-methylglutaric, and 3-hydroxyisovaleric acids. Two novel heterozygous loss-of-function variants in the AUH gene were identified by genetic testing...

BACKGROUND: Despite its rare incidence of 1/40,000, fetal cardiac rhabdomyoma (CR) represents the prevailing type of benign cardiac fetal tumors, which commonly affects the ventricles. Fetal CRs rarely occur in the right atrium. Thus, the presentation of atrial fibrillation and premature atrial contractions (PAC) due to a solitary cardiac rhabdomyoma is an extremely rare scenario. Our literature review found that only 2% (1 out of 61) of rhabdomyoma cases were found in the right atrium...

RATIONALE: The presence of clinically significant repeated maternal epilepsies during pregnancy increases the risk of adverse maternal, fetal and neonatal outcomes. However, there are few guidelines for anesthesiologists to deal with this situation. PATIENT CONCERNS AND DIAGNOSES: A 28-year-old primigravida was transferred to the operating room for emergency cesarean section. Based on the patient's complaints and clinical appearance, provisional diagnosis of preeclampsia at 33 weeks' gestation as well as frequent and repeated grand mal convulsions at 14 years of age were considered...

INTRODUCTION: Pathogenic variant in the KCNQ2 gene is a common genetic etiology of neonatal convulsion. However, it remains a question in KCNQ2-related disorders that who will develop into atypical developmental outcomes. METHODS: We established a prediction model for the neurodevelopmental outcomes of newborns with seizures caused by KCNQ2 gene defects based on the Gradient Boosting Machine (GBM) model with a training set obtained from the Human Gene Mutation Database (HGMD, public training dataset)...

BACKGROUND: Ornithine carbamyltransferase deficiency (OTCD) is the most common urea cycle disorder disease. Neonatal-type cases usually involve a serious condition, including the complete loss of ornithine carbamyltransferase (OTC) enzyme activities. CASE DESCRIPTION: Case 1: A 3-day-old boy was hospitalized due to decreased muscle tone over three days, 10 hours of dyspnea, and two instances of convulsions. Diagnostic tests showed elevated blood ammonia levels, decreased citrulline concentration via mass spectrometry (MS/MS), and increased orotic acid observed by gas chromatography-mass spectrometry (GC/MS), while uracil was normal...

OBJECTIVE: To explore the clinical features and genetic basis for a child with 3-methylglutaconic aciduria type VII. METHODS: A child who was diagnosed at the Gansu Provincial Maternity and Child Health Care Hospital on August 9, 2019 was selected as the study subject. Clinical data of the child, including urine gas chromatography and mass spectrometry, were collected. The child and her parents were subjected to whole exome sequencing. RESULTS: The child, a female neonate, had presented mainly with intermittent skin cyanosis, convulsions, hypomagnesemia, apnea, neutropenia after birth...

Background One of the leading causes contributing to morbidity and mortality globally is attributed to eclampsia. Hence, it is vital to comprehensively review each female having eclampsia and to evaluate the factors that govern the outcomes in females with eclampsia. Aim To decode the fetal and maternal outcomes in subjects having eclampsia and to evaluate various factors that govern the outcomes. Methods This retrospective cohort and epidemiological study commenced at the Department of Obstetrics and Gynaecology, Netaji Subhash Chandra Bose Medical College, Jabalpur, Madhya Pradesh, in January 2016 till April 2017, and included females that either developed eclampsia in hospital stay duration or presented with pre-existing eclampsia...

BACKGROUND: Magnesium sulphate is the drug of choice for the prevention and treatment of women with eclampsia. Regimens for administration of this drug have evolved over the years, but there is no clarity on the comparative benefits or harm of alternative regimens. This is an update of a review first published in 2010. OBJECTIVES: To assess if one magnesium sulphate regimen is better than another when used for the care of women with pre-eclampsia or eclampsia, or both, to reduce the risk of severe morbidity and mortality for the woman and her baby...

BACKGROUND: Neonatal stroke manifests atypically and can potentially result in significant neurological sequelae in affected infants. Studies on long-term neurodevelopmental outcomes and prognostic factors are limited. We aimed to assess the clinical characteristics, long-term outcomes, and prognostic factors of perinatal stroke. METHODS: Patients diagnosed with perinatal stroke were enrolled from 2009 to 2018. Clinical data including general information, clinical manifestations, and risk factors were collected and compared...