Delayed recognition of autism spectrum disorder and attention-deficit/hyperactivity disorder in a girl with ornithine transcarbamylase deficiency: A case report.

Rationale: Ornithine transcarbamylase (OTC) deficiency, a urea cycle disorder, is a rare congenital metabolic error that leads to hyperammonemia. Psychiatric symptoms of hyperammonemia are nonspecific and can cause autism spectrum disorder (ASD)-like symptoms and attention-deficit/hyperactivity disorder (ADHD)-like symptoms. Some studies report that OTC deficiency is often initially diagnosed as ASD or ADHD.

Associations between Internet Addiction, Psychiatric Comorbidity, and Maternal Depression and Anxiety in Clinically Referred Children and Adolescents.

Purpose: Internet addiction (IA) has become a global problem and is one of the most common reasons for children to be referred for intervention because IA results in social and educational dysfunction and conflict with parents. IA is associated with various comorbid psychiatric disorders, with notable association between IA and family factors. However, little is known about parental psychopathology.

Associations Between Chronic Irritability and Sensory Processing Difficulties in Children and Adolescents.

Irritability is one of the most common reasons for which children and adolescents are referred for psychiatric evaluation and care. However, clinical irritability is difficult to define; thus, its prevalence varies widely. Chronic irritability may be associated with sensory processing difficulties (SPD), but little is known about the relationship between these two factors in clinical populations.

COVID-19 phobia in a boy with undiagnosed autism spectrum disorder: A case report.

Rationale: Coronavirus disease 2019 (COVID-19) is affecting mental health profoundly. Previous studies have reported pandemic-related anxiety. Anxiety disorder and autism spectrum disorder (ASD) are common comorbidities.

Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy.

Missense and truncating variants in protocadherin 19 (PCDH19) cause PCDH19-related epilepsy. In this study, we aimed to investigate variations in distributional characteristics and the clinical implications of variant type in PCDH19-related epilepsy. We comprehensively collected PCDH19 missense and truncating variants from the literature and by sequencing six exons and intron-exon boundaries of PCDH19 in our cohort.

Total RNA and genomic DNA of Lactobacillus gasseri OLL2809 induce interleukin-12 production in the mouse macrophage cell line J774.1 via toll-like receptors 7 and 9.

Background: Lactobacillus gasseri OLL2809 can highly induce interleukin (IL)-12 production in immune cells. Even though beneficial properties of this strain for both humans and animals have been reported, the mechanism by which the bacteria induces the production of IL-12 in immune cells remains elusive. In this study, we investigated the mechanism of induction of IL-12 using a mouse macrophage cell line J774.

Mucosal incision-assisted biopsy versus endoscopic ultrasound-guided fine-needle aspiration with a rapid on-site evaluation for gastric subepithelial lesions: A randomized cross-over study.

Objectives: This study aimed to compare the diagnostic yield of mucosal incision-assisted biopsy (MIAB) and endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) with a rapid on-site evaluation (ROSE) for gastric subepithelial lesions (SEL) suspected of being gastrointestinal stromal tumors (GIST) with an intraluminal growth pattern.

Methods: This was a prospective randomized, cross-over multicenter study. The primary outcome was the diagnostic yield of EUS-FNA and MIAB.

Mucosal Profiles of Immune Molecules Related to T Helper and Regulatory T Cells Predict Future Relapse in Patients With Quiescent Ulcerative Colitis.

Background: T helper (Th)- and regulatory T (Treg) cell-related immune molecules are implicated in ulcerative colitis (UC). However, the association between their mucosal expression during remission and the subsequent clinical course of UC is unknown.

Methods: The expression of cytokines and transcription factors related to Th1, Th2, Th17, and Treg in endoscopic mucosal biopsy specimens from 40 UC patients in clinical remission and 9 controls was measured by quantitative polymerase chain reaction.

High prevalence of shoplifting in patients with eating disorders.

Purpose: Shoplifting, prevalent in patients diagnosed with bulimia nervosa (BN), is a serious behavioral problem in eating disorder (ED) patients. However, little is known about its overall presence, etiology, and consequences. This study aimed to determine whether shoplifting occurs before or after the onset of ED and to investigate the prevalence and correlates of shoplifting in ED patients.

Preschool-onset obsessive-compulsive disorder with complete remission.

Early-onset obsessive-compulsive disorder (OCD) is more severe than later-onset OCD. There are no reports of any early-onset OCD patients being cured, especially with respect to preschoolers. In this case report, we describe the successful treatment and cure of a 6-year-old preschool girl with severe OCD since the age of 3.

High Prevalence of Non-psychotic Delusions in Children with High-functioning Pervasive Develonmental Disorder.

Background: Non-psychotic delusions are reported to be associated with depression and anxiety. When these delusions occur in high-functioning pervasive developmental disorder (HFPDD) children, they are often misdiagnosed as schizophrenia and have consequently been studied less. This study has three goals: to investigate the prevalence of non-psychotic delusions in HFPDD children, to test the hypothesis that HFPDD children are more likely to have non-psychotic delusions than non-HFPDD children, and to test the hypothesis that non-psychotic delusions are associated with depression and anxiety.

Psychogenic nonepileptic seizures as a manifestation of psychological distress associated with undiagnosed autism spectrum disorder.

Psychogenic nonepileptic seizures (PNES) are observable changes in behavior or consciousness that are similar to epileptic seizures but are not associated with electrophysiologic changes. PNES occur in children with underlying psychological distress and are especially frequent in those with epilepsy. Because PNES are heterogeneous, comprehensive treatment tailored to each patient is required to reduce psychosocial stress.

EHBP1L1 coordinates Rab8 and Bin1 to regulate apical-directed transport in polarized epithelial cells.

The highly conserved Rab guanosine triphosphatase (GTPase) Rab8 plays a role in exocytosis toward the polarized plasma membrane in eukaryotic cells. In murine Rab8-deficient small intestine cells, apical proteins are missorted into lysosomes. In this study, we identified a novel Rab8-interacting protein complex containing an EH domain-binding protein 1-like 1 (EHBP1L1), Bin1/amphiphysin II, and dynamin.

Enhanced natural killer cell activation by exopolysaccharides derived from yogurt fermented with Lactobacillus delbrueckii ssp. bulgaricus OLL1073R-1.

Yogurt is generally recognized as a beneficial food for our health, but research into its physiological effects has focused mainly on intestinal dysfunctions such as constipation and diarrhea. We previously found yogurt fermented with Lactobacillus delbrueckii ssp. bulgaricus OLL1073R-1 (hereafter OLL1073R-1) could reduce risks of catching the common cold and flu in human trials.

Short- and long-term outcomes of endoscopic resection of rectal neuroendocrine tumours: analyses according to the WHO 2010 classification.

Objective: Although the World Health Organisation (WHO) defined a novel classification of gastroenteropancreatic neuroendocrine tumours (NETs) in 2010, indications for endoscopic resection of rectal NETs in the guidelines were based on evidence accumulated for carcinoid tumours defined by a previous classification. This study was designed to clarify indications for endoscopic resection of rectal NETs corresponding to the new WHO classifications.

Material And Methods: One hundred-seventy rectal NETs resected endoscopically from April 2001 to March 2012 were histologically re-classified according to the WHO 2010 criteria.

Sensory hypersensitivity in children with high-functioning pervasive developmental disorder.

Background: Studies have shown that children with pervasive developmental disorder (PDD) have high rates of sensory hypersensitivity. In addition, a few recent studies suggested that sensory hypersensitivity was related to anxiety or depression. However, most studies had methodological limitations because they included children with mental retardation and did not examine broadband psychopathology.

Psychiatric comorbidity in children with high-functioning pervasive developmental disorder.

Background: In previous studies for children with pervasive developmental disorder (PDD), the prevalence for psychiatric comorbidities has varied because of their methodological differences. In this research, our PDD subjects were strictly limited by age and IQ scores, and we utilized a semi-structured interview to diagnose their coexisting disorders. The purpose of this study is to identify reliable prevalence and types of psychiatric comorbidities in children with high-functioning PDD (HFPDD).

Anxiety in children with high-functioning pervasive developmental disorder.

Background: Anxiety symptoms in children with pervasive developmental disorder (PDD) often appear to be not as severe as those in children with anxiety disorders or often appear to be the core features of PDD, and therefore, they do not meet the diagnostic criteria for anxiety disorders. In this study, we assessed anxiety broadly in line with dimensions of anxiety and not with an operational categorical diagnosis. The objective of this study was to reveal that children with high-functioning PDD have more anxiety than children in the general population.

[A case of lymph node metastasis from esophageal small-cell-type endocrine cell carcinoma diagnosed by endoscopic ultrasound-guided fine-needle aspiration].

A 70-year-old man presented with a 0-IIc lesion in the lower esophagus. He underwent esophageal endoscopic submucosal dissection (ESD). The pathological diagnosis was squamous cell carcinoma with small cell carcinoma.

The role of VAMP7/TI-VAMP in cell polarity and lysosomal exocytosis in vivo.

VAMP7 or tetanus neurotoxin-insensitive vesicle- associated membrane protein (TI-VAMP) has been proposed to regulate apical transport in polarized epithelial cells, axonal transport in neurons and lysosomal exocytosis. To investigate the function of VAMP7 in vivo, we generated VAMP7 knockout mice. Here, we show that VAMP7 knockout mice are indistinguishable from control mice and display a similar localization of apical proteins in the kidney and small intestine and a similar localization of axonal proteins in the nervous system.

Aberrant activation-induced cytidine deaminase expression is associated with mucosal intestinalization in the early stage of gastric cancer.

Although Helicobacter pylori is a risk factor for gastric cancer (GC), its detailed carcinogenesis remains unclear. Recently, aberrant expression of activation-induced cytidine deaminase (AID) was demonstrated in gastric epithelium with H. pylori infection and seems to cause the accumulation of mutation.