Orthotic treatment for unstable hip joints in children with congenital insensitivity to pain with anhidrosis: A case series with follow-up until skeletal maturity.

Congenital insensitivity to pain with anhidrosis is an extremely rare disorder characterized by congenital generalized loss of pain and thermal sensation, decreased sweating, intellectual disability, and self-mutilating behavior. Skeletal complications can develop even after minor trauma or an unknown cause, and management is difficult and sometimes unsuccessful, leading to the development of Charcot joints. We report 3 patients whose hip instability was treated with a hip action brace (HAB) that allowed for free abduction but prevented adduction.

Case Report: Tuberous sclerosis complex-associated hemihypertrophy successfully treated with mTOR inhibitor sirolimus.

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by a mutation in either of the two tumor suppressor genes, and . Due to dysregulated activity of the mammalian target of rapamycin (mTOR) pathway, hamartomas or benign tumors frequently occur in many organs and are often treated with mTOR inhibitors. Hemihypertrophy is a rare complication of TSC.

Clinical characteristics of SARS-CoV-2-associated encephalopathy in children: Nationwide epidemiological study.

Objective: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) sometimes triggers acute encephalopathy as a serious neurological complication in children. We previously reported the clinico-radiological findings of SARS-CoV-2-associated encephalopathy. The advent of the SARS-CoV-2 omicron variant led to a marked increase in pediatric patients with coronavirus disease 2019 (COVID-19); however, epidemiological changes with acute encephalopathy according to the emergence of SARS-CoV-2 have not yet been documented.

Intake levels and main sources of nutrients for Japanese children with motor or intellectual disabilities.

Proper nutritional management is important for the growth and development of children with motor or intellectual disabilities; however, few studies have investigated the nutrient intake of children with disabilities. This study aimed to investigate the nutrient intake and food groups that are the main sources of nutrients for children with disabilities. This cross-sectional observational study included twenty-five children (mean age, 11⋅8 years) from five hospitals in Japan.

Association of and gene promotor polymorphisms with susceptibility to acute necrotizing encephalopathy.

Objective: Acute necrotizing encephalopathy (ANE) is a severe complication of infectious diseases affecting the brain and systemic organs. The main pathogenesis is cytokine storm, in which interleukin-6 (IL-6) and interleukin-10 (IL-10) are candidates for key cytokines. To further elucidate their roles in the etiology and pathogenesis of ANE, we studied polymorphisms in the promotor regions of the and genes by genetic and functional analyses.

Case report: Evolution of catatonic mutism and psychotic symptoms in an adolescent with Down syndrome: transition from Down syndrome disintegrative disorder to anti-N-methyl-D-aspartate receptor encephalitis.

During her first year of junior high school, a 12-year-old Japanese girl with Down syndrome experienced dizziness, gait disruption, paroxysmal weakness in her hands, and sluggish speaking. Regular blood tests and a brain MRI revealed no abnormalities, and she was tentatively diagnosed with adjustment disorder. Nine months later, the patient experienced a subacute sickness of chest pain, nausea, sleep problem with night terrors, and delusion of observation.

Diagnostic accuracy of a deep learning model using YOLOv5 for detecting developmental dysplasia of the hip on radiography images.

Developmental dysplasia of the hip (DDH) is a cluster of hip development disorders and one of the most common hip diseases in infants. Hip radiography is a convenient diagnostic tool for DDH, but its diagnostic accuracy is dependent on the interpreter's level of experience. The aim of this study was to develop a deep learning model for detecting DDH.

Genetic and environmental risk factors of acute infection-triggered encephalopathy.

Acute encephalopathy is a constellation of syndromes in which immune response, metabolism and neuronal excitation are affected in a variable fashion. Most of the syndromes are complex disorders, caused or aggravated by multiple, genetic and environmental risk factors. Environmental factors include pathogenic microorganisms of the antecedent infection such as influenza virus, human herpesvirus-6 and enterohemorrhagic , and drugs such as non-steroidal anti-inflammatory drugs, valproate and theophylline.

Tsc2 mutation rather than Tsc1 mutation dominantly causes a social deficit in a mouse model of tuberous sclerosis complex.

Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that is associated with neurological symptoms, including autism spectrum disorder. Tuberous sclerosis complex is caused by pathogenic germline mutations of either the TSC1 or TSC2 gene, but somatic mutations were identified in both genes, and the combined effects of TSC1 and TSC2 mutations have been unknown.

Methods: The present study investigated social behaviors by the social interaction test and three-chambered sociability tests, effects of rapamycin treatment, and gene expression profiles with a gene expression microarray in Tsc1 and Tsc2 double heterozygous mutant (TscD) mice.

A nationwide survey of monocarboxylate transporter 8 deficiency in Japan: Its incidence, clinical course, MRI and laboratory findings.

Background: Monocarboxylate transporter 8 (MCT8) deficiency is an X-linked recessive developmental disorder characterized by initially marked truncal hypotonia, later athetotic posturing, and severe intellectual disability caused by mutations in SLC16A2, which is responsible for the transport of triiodothyronine (T3) into neurons. We conducted a nationwide survey of patients with MCT8 deficiency to clarify their current status.

Methods: Primary survey: In 2016-2017, we assessed the number of patients diagnosed with MCT8 deficiency from 1027 hospitals.

Association of rs16944 Polymorphism With Acute Encephalopathy With Biphasic Seizures and Late Reduced Diffusion Is Opposite to That of Febrile Seizures.

Objective: Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a severe neurologic complication of febrile infectious diseases in children. At the onset, AESD is clinically manifested as febrile status epilepticus. Subsequent damage to the cerebral cortex is ascribed to neurotoxicity.

Protective association of HLA-DPB1*04:01:01 with acute encephalopathy with biphasic seizures and late reduced diffusion identified by HLA imputation.

Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a severe syndrome of acute encephalopathy that affects infants and young children. AESD is a polygenic disorder preceded by common viral infections with high fever. We conducted an association study of human leukocyte antigen (HLA) regions with AESD using HLA imputation.

Correlation between fetal heart rate evolution patterns and magnetic resonance imaging findings in severe cerebral palsy: A longitudinal study.

Objective: To investigate the association between hypoxic-ischaemic insult timing and brain injury type in infants with severe cerebral palsy (CP).

Design: Longitudinal study.

Setting: Database of the Recurrence Prevention Committee, Japan Obstetric Compensation System for Cerebral Palsy.

Visual attention to their own paralytic limbs in children with spina bifida: Measurement of gaze direction using eye tracking.

Background: Patients with spina bifida experience sensory and motor paralysis and complications in the form of deformation and skin problems of the lower limbs. Enhancing their awareness of the paralysed lesions could be helpful for these patients to prevent secondary disorders. This study sought to investigate to what extent children with spina bifida are visually aware of their body parts and, in particular, to their paralysed lesions.

Epidemiology of Developmental Dysplasia of the Hip: Analysis of Japanese National Database.

Background: Developmental dysplasia of the hip (DDH) is a cluster of hip development disorders that affects infants. The incidence of DDH-related dislocation (DDH-dislocation) is reportedly 0.1-0.