Severe Neurological Manifestation Associated With Coronavirus Disease 2019 in Children During the Omicron Variant-Predominant Period.

Background: The Omicron variant of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is known to be more infectious and less severe than the other variants. Despite the increasing number of symptomatic patients, severe neurological complications in children with the Omicron variant have been reported rarely, unlike with wild-type or Delta variants. This study aimed to investigate severe neurological complications in children with Omicron variant infection.

Multiple endocrine neoplasia type 2 and autoimmune polyendocrine syndromes (type 1 diabetes mellitus and Graves' disease) in a 16-year-old male with Kabuki syndrome.

Multiple endocrine neoplasia type 2A (MEN2A) is caused by germline pathogenic variants in the RET proto-oncogene and is characterized by medullary thyroid cancer (MTC), pheochromocytoma, and hyperparathyroidism. Autoimmune polyendocrine syndromes (APS) are defined as multiple endocrine gland insufficiency associated with loss of immune tolerance. APS type 2 (APS-2) consists of at least two of the following diseases: type 1 diabetes mellitus (T1DM), autoimmune thyroid disease, and Addison's disease.

Case Report: Infantile Cerebellar-Retinal Degeneration With Compound Heterozygous Variants in Gene-Long-Term Follow-Up of a Sibling.

Infantile cerebellar-retinal degeneration (ICRD) is an extremely rare, infantile-onset neuro-degenerative disease, characterized by autosomal recessive inherited, global developmental delay (GDD), progressive cerebellar and cortical atrophy, and retinal degeneration. In 2012, a biallelic pathogenic variant in gene (NM_001098.3) was found to be causative of this disease.

Update on benign convulsions with mild gastroenteritis.

Benign convulsions with mild gastroenteritis (CwG) are characterized by afebrile convulsions associated with viral gastroenteritis in previously healthy infants and children. The main causative pathogens are rotavirus and norovirus. CwG occurs frequently in both East Asian and Western countries.

Benign Convulsions with Mild Rotavirus and Norovirus Gastroenteritis: Nationwide Data from the Health Insurance Review and Assessment Service in South Korea.

There have been no large-scale studies on the epidemiology of benign convulsions with mild gastroenteritis (CwG) since the introduction of the rotavirus vaccine in South Korea in 2007. This study aimed to analyze the trends in rotavirus gastroenteritis (RVGE) and rotavirus-associated CwG (RaCwG) after rotavirus vaccination. Further, we aimed to analyze changes in norovirus gastroenteritis (NVGE) and norovirus-associated CwG (NaCwG) using nationwide data from the Korean Health Insurance Review and Assessment Service.

Immunogenicity and safety of the third booster dose of the inactivated Japanese encephalitis vaccine in Korean children: A prospective multicenter study.

The immunization schedule for the inactivated Japanese encephalitis (JE) vaccine in Korea is a two-dose primary series at 12-24 months of age and three booster doses at 12 months after primary schedule and at 6 and 12 years of age. The aim of this study was to investigate immunogenicity and safety of the third booster dose of the inactivated JE vaccine, as well as the long-term immunogenicity of the second booster dose in Korean children. Healthy children aged 11-13 years, primed and given four doses of inactivated JE vaccines were included.

Two Novel Mutations of Gene and Wide Clinical Spectrum in KBG Syndrome: Case Reports and Literature Review.

Background: KBG syndrome (OMIM #148050) is a rare, autosomal dominant inherited genetic disorder caused by heterozygous mutations in the ankyrin repeat domain-containing protein 11 (ANKRD11) gene or by microdeletion of chromosome 16q24.3. It is characterized by macrodontia of the upper central incisors, distinctive facial dysmorphism, short stature, vertebral abnormalities, hand anomaly including clinodactyly, and various degrees of developmental delay.

Epidemiology of Rotavirus Gastroenteritis and Rotavirus-Associated Benign Convulsions with Mild Gastroenteritis after the Introduction of Rotavirus Vaccines in South Korea: Nationwide Data from the Health Insurance Review and Assessment Service.

Using nationwide data from the Health Insurance Review and Assessment service, we assessed the impact of rotavirus vaccines, introduced in South Korea, in 2007, on changes in the prevalence of factors (age, sex, and geographic location) associated with rotavirus gastroenteritis (RVGE) and rotavirus-associated benign convulsions with mild gastroenteritis (RaCwG). We analyzed health records of children younger than 3 years who visited clinical facilities and were diagnosed with RVGE or RaCwG between 2007 and 2019. The annual mid-year population (MYP) was obtained from the Korean Statistical Information Service.

Seroprevalence of Neutralizing Antibodies against Japanese Encephalitis Virus among Adolescents and Adults in Korea: A Prospective Multicenter Study.

The immunization schedule for the Japanese encephalitis (JE) vaccine in Korea is a two-dose primary series at 12-24 months of age, followed by booster doses 12 months after the second dose and at the ages of 6 and 12 years. Although the number of JE cases has markedly decreased after the universal vaccination program, JE predominantly occurs in adults. The aim of this study was to assess the age-specific prevalence of the JE-neutralizing antibody (NTAb) among adolescents and adults in Korea.

The Korean undiagnosed diseases program: lessons from a one-year pilot project.

Background: The Korean Undiagnosed Diseases Program (KUDP) was launched in January 2017 as a one-year pilot project to address the increasing global interest in patients with undiagnosed rare diseases. The purpose of this paper is to summarize the project results and emphasize the unmet research needs among patients with undiagnosed rare diseases in Korea.

Results: Patient enrollment, assessment, and diagnostic processes were determined by the KUDP clinical expert consortium.

The effect of low-dose intravenous bisphosphonate treatment on osteoporosis in children with quadriplegic cerebral palsy.

Purpose: Quadriplegic children with cerebral palsy are more susceptible to osteoporosis because of various risk factors that interfere with bone metabolism. Pamidronate is effective for pediatric osteoporosis, but there are no guidelines for optimal dosage or duration of treatment in quadriplegic children with osteoporosis. We aimed to evaluate the efficacy of low-dose pamidronate treatment in these patients.

Complete occlusion of the right middle cerebral artery associated with Mycoplasma pneumoniae pneumonia.

We report a case of a 5-year-old girl who developed left hemiparesis and left facial palsy, 6 days after the initiation of fever and respiratory symptoms due to pneumonia. Chest radiography, conducted upon admission, showed pneumonic infiltration and pleural effusion in the left lung field. Brain magnetic resonance imaging showed acute ischemic infarction in the right middle cerebral artery territory.

Peripheral facial palsy, the only presentation of a primitive neuroectodermal tumor of the skull base.

Introduction: Peripheral facial palsy is rarely caused by primary neoplasms, which are mostly constituted of tumors of the central nervous system, head and neck, and leukemia.

Presentation Of Case: A 2-month-old male infant presented with asymmetric facial expression for 3 weeks. Physical examination revealed suspicious findings of right peripheral facial palsy.

Development of multifocal nodular lesions of a liver mimicking hepatic metastasis, following resection of an insulinoma in a child.

Insulinoma, which arises from insulin-producing pancreatic beta cells, is a rare tumor in children. Only 5%-10% of insulinomas are malignant and undergo metastasis. We report a case of an 11-year-old girl who experienced hypoglycemia-related seizures induced by an insulinoma; after resection of the primary tumor, she developed hepatic focal nodular hyperplasia (FNH).

Benign convulsion with mild gastroenteritis.

Benign convulsion with mild gastroenteritis (CwG) is a type of afebrile seizure that occurs in children. CwG is defined as a convulsion in a previously healthy child with no known central nervous system infection or encephalopathy, accompanying mild diarrhea without fever, electrolyte imbalance, or moderate to severe dehydration. Convulsions in CwG are characterized by multiple brief episodes of generalized or focal seizures.

Serum glycated albumin as a new glycemic marker in pediatric diabetes.

Purpose: Serum glycated albumin (GA) has been recently used as another glycemic marker that reflects shorter term glycemic control than glycated hemoglobin (HbA1c). Insulin secretory function and glycemic fluctuation might be correlated with the ratio of GA to HbA1c (GA/HbA1c) in diabetic adult patients. This study investigated the association of GA and GA/HbA1c ratio with the levels of fasting C-peptide, fasting plasma glucose in type 1 and type 2 pediatric diabetes.

Epileptic nystagmus and vertigo associated with bilateral temporal and frontal lobe epilepsy.

Epileptic nystagmus is defined as a quick, repetitive jerky movement of the eyeball associated with seizure activity. In cases of epileptic nystagmus associated with ictal discharge from multiple brain areas, localization of the exact epileptogenic zone could be extremely difficult. In a nine-year-old patient with epileptic nystagmus and vertigo associated with bilateral temporal and frontal lobe epilepsy, we could infer the epileptic focus by interpreting the patient's clinical picture, characteristics of nystagmus, and findings of electroencephalography.

Is It Possible to Predict the Iron Status from an Infant's Diet History?

Purpose: Iron deficiency remains a very common nutritional problem despite the improvement in nutrition and increased understanding of methods for its prevention. Thus, we try to create a new method for screening iron nutrition through infant nutrition history.

Methods: Among the children who visited Inha University Hospital from March 2006 to July 2012, 181 children with iron deficiency anemia (IDA) and 52 children without IDA ranging from 6 to 36 months of age were reviewed in this study.

Comparison between febrile and afebrile seizures associated with mild rotavirus gastroenteritis.

Purpose: We aimed on identifying the differences of febrile and afebrile seizures associated with mild rotavirus gastroenteritis (RVGE) in the pediatric population.

Method: Medical charts of pediatric patients who had been admitted between July 1999 and June 2011 due to RVGE were retrospectively reviewed. Subjects were ultimately divided into three groups; 'no seizure' (NS: patients without seizure), 'febrile seizure' (FS: patients with fever during seizure), 'afebrile seizure' (AFS: patients without fever during seizure).

Neuroprotective and antiepileptogenic effects of combination of anti-inflammatory drugs in the immature brain.

Background: Inflammatory signaling elicited by prolonged seizures can be contributory to neuronal injury as well as adverse plasticity leading to the development of spontaneous recurrent seizures (epilepsy) and associated co-morbidities. In this study, developing rat pups were subjected to lithium-pilocarpine status epilepticus (SE) at 2 and 3 weeks of age to study the effect of anti-inflammatory drugs (AID) on SE-induced hippocampal injury and the development of spontaneous seizures.

Findings: We selected AIDs directed against interleukin-1 receptors (IL-1ra), a cyclooxygenase-2 (COX-2) inhibitor (CAY 10404), and an antagonist of microglia activation of caspase-1 (minocycline).

Evaluation of development-specific targets for antiepileptogenic therapy using rapid kindling.

We used the method of rapid hippocampal kindling to assess the potential antiepileptogenic efficacy of a number of anticonvulsant medications. This method afforded a higher throughput than methods based on traditional kindling or post-status epilepticus models of epileptogenesis. This "compressed epileptogenesis" model also permitted the study of age-dependent pharmacologic targets, and distinguished among antiepileptic drugs (AEDs) on the basis of their age-specific antiepileptogenic efficacy.

Elevated plasma corticosterone level and depressive behavior in experimental temporal lobe epilepsy.

Depression is frequently reported in epilepsy patients; however, mechanisms of co-morbidity between epilepsy and depression are poorly understood. An important mechanism of depression is disinhibition within the hypothalamo-pituitary-adrenocortical (HPA) axis. We examined the functional state of the HPA axis in a rat model of co-morbidity between temporal lobe epilepsy and depression.

A case of acute hepatitis with Mycoplasma pneumoniae infection and transient depression of multiple coagulation factors.

We report a case of acute severe hepatitis with Mycoplasma pneumoniae (M. pneumoniae) infection and transient depression of multiple coagulation factors. A 5-year-old boy, previously healthy, was admitted with pneumonia.

Antiepileptogenic and antiictogenic effects of retigabine under conditions of rapid kindling: an ontogenic study.

Purpose: To examine antiepileptogenic and antiictogenic potential of retigabine (RTG) under conditions of rapid kindling epileptogenesis during different stages of development.

Methods: The experiments were performed in postnatal day 14 (P14), P21, and P35 male Wistar rats. After stereotaxic implantation of hippocampal stimulating and recording electrodes, the effects of RTG on baseline afterdischarge (AD) properties were studied.