Cytokine Profiles in Pericardial Effusion in a Down Syndrome Infant with Transient Abnormal Myelopoiesis.

Infants with Down Syndrome (DS) are at risk of developing a transient abnormal myelopoiesis (TAM). TAM is characterised by increased circulating blast cells but usually self-limiting. DS patients with TAM sometimes show fetal hydrops and effusion in body cavities, but the mechanism remains unclear.

Partial monosomy of 10p and duplication of another chromosome in two patients.

Partial monosomy of 10p is a rare chromosomal abnormality. Common features are hypoparathyroidism, deafness, renal anomalies, distinctive facies, and mental retardation, with phenotypic variability. We report two patients with chromosomal abnormalities identified on single-nucleotide polymorphism (SNP) array analysis.

Altered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndrome.

Background: Steroid-resistant nephrotic syndrome (SRNS) is a genetically heterogeneous disorder for which more than 25 single-gene hereditary causes have been identified.

Methods: Whole exome sequencing was performed in a 3-year-old girl with SRNS. We analyzed the expression of Crb2 and slit diaphragm molecules in the patient's glomeruli, and compared it with that of controls or other nephrotic patients.

Successful Transanal Removal of a Rectal Foreign Body by Abdominal Compression under Endoscopic and X-Ray Fluoroscopic Observation: A Case Report.

We occasionally encounter patients with various types of rectal foreign bodies. When too large to grasp, transanal removal can be difficult. Here, we report a case of successful manual transanal removal of an 18 × 4 × 4 cm silicon rod without complications.

A nationwide survey of pediatric acquired demyelinating syndromes in Japan.

Objective: To investigate the clinical and epidemiologic features of pediatric acquired demyelinating syndromes (ADS) of the CNS in Japan.

Methods: We conducted a nationwide survey and collected clinical data on children with ADS aged 15 years or younger, who visited hospitals between 2005 and 2007.

Results: Among 977 hospitals enrolled, 723 (74.

Determinants of Incomplete Asthma Control in Patients with Allergic Rhinitis and Asthma.

Background: Characterizing associations between the upper and lower airways is important for asthma management.

Objectives: This study aimed to assess the determinants of incomplete asthma control in patients with allergic rhinitis (AR) and asthma.

Methods: Multiple factors including age, sex, atopy, smoking history, medication use, Asthma Control Questionnaire (ACQ) score, FEV, fraction of exhaled nitric oxide (Feno), and rhinitis questionnaire score were examined.

[A Study of Cases of Brainstem/cerebellar Infarction Detected as False Negatives by Initial MRI].

Brainstem/cerebellar infarction is known to cause various cranial nerve symptoms that may require otorhinolaryngological evaluation. Acute-phase cerebellar infarction is evaluated by MRI with diffusion-weighted imaging (MRI-DWI). However, in the acute phase, MRI-DWI may show false-negative results, because of which patients are referred to the department of otolaryngology for further evaluation of the cranial nerve symptoms.

Specific HLA genotypes confer susceptibility to acute necrotizing encephalopathy.

Acute necrotizing encephalopathy (ANE) is a rare and severe syndrome of acute encephalopathy triggered by viral infections. Cytokine storm is considered as the main pathogenetic mechanism of ANE. ANE is prevalent in East Asia, suggesting the association of host genetic factors.

[Factors associated with antisocial behavior in patients with developmental disorder].

Objective: This study investigated the factors associated with antisocial behavior (AB) in children with developmental disorder and effective treatments. Methods: Participants were 110 schoolchildren with developmental disorder and with or without accompanying AB who visited our hospital between October 2009 and October 2012. Among the children with AB, those who exhibited one or more symptoms of conduct disorder (CD) were assigned to the CD subgroup.

PM2.5-induced airway inflammation and hyperresponsiveness in NC/Nga mice.

The allergic inflammatory effects of particulate matter (PM) 2.5, collected with the cyclone system in Yokohama city in Japan, were investigated in NC/Nga mice, which are hypersensitive to mite allergens. PM2.

Usefulness of computed tomography with air insufflation of the stomach prior to percutaneous endoscopic gastrostomy procedure.

We examined the results of computed tomography (CT) with and without air insufflation of the stomach prior to performing percutaneous endoscopic gastrostomy (PEG). We retrospectively analyzed 366 patients who underwent PEG. CT images obtained with and without air insufflation were examined for the presence or absence of contact between the gastric anterior wall and abdominal wall.

Idiopathic Intracranial Hypertension in a Prepubertal Pediatric Japanese Patient Complicated by Severe Papilledema.

Purpose: To report a rare case of idiopathic intracranial hypertension (IIH) in a prepubertal pediatric patient.

Case Report: The patient was an 11-year-old Japanese boy. Initially, an ophthalmologist found severe papilledema, and the patient was diagnosed with IIH.

Systemic lupus erythematosus presenting with mixed-type fulminant autoimmune hemolytic anemia.

We report the case of a 9-year-old girl who presented with mixed-type fulminant autoimmune hemolytic anemia (AIHA) at the onset of systemic lupus erythematosus (SLE). On admission, laboratory investigations indicated very severe anemia (Hb, 2.7 g/dL) with reticulocytosis and positive direct/indirect Coombs tests.

Persistently high exhaled nitric oxide and loss of lung function in controlled asthma.

Backgrounds: It remains unclear whether a persistently high exhaled nitric oxide fraction (FeNO) in patients with controlled asthma is associated with the progressive loss of lung function.

Methods: This was a 3-year prospective study. We examined the changes in pre- and post-bronchodilator forced expiratory volume in 1 s (FEV1) and FeNO in 140 patients with controlled asthma.

Decreased Frequency of Intestinal Regulatory CD5+ B Cells in Colonic Inflammation.

Background: CD5+ B cells are a type of regulatory immune cells, though the involvement of this B cell subset in intestinal inflammation and immune regulation is not fully understood.

Methods: We examined the distribution of CD5+ B cells in various mouse organs. Expression levels of CD11b, IgM, and toll-like receptor (TLR)-4 and -9 in B cells were evaluated.

Primary Pancreatic Malignant Lymphoma Diagnosed from Endoscopic Ultrasound-guided Fine-needle Aspiration Findings.

A 60-year-old woman was admitted to our hospital with upper abdominal pain and jaundice. Computed tomography showed a 9-cm mass that was penetrated by the common hepatic artery in the pancreatic head area. Endoscopic retrograde pancreatography revealed no stenosis or obstruction of the main pancreatic duct, and a cytologic examination of the patient's pancreatic juice was negative.

Combination wt-p53 and MicroRNA-125b Transfection in a Genetically Engineered Lung Cancer Model Using Dual CD44/EGFR-targeting Nanoparticles.

Mutations in KRAS and p53 signaling pathways contribute to loss of responsiveness to current therapies and a decreased survival in lung cancer. In this study, we have investigated the delivery and transfection of wild-type (wt-) p53 and microRNA-125b (miR-125b) expressing plasmid DNA, in SK-LU-1 human lung adenocarcinoma cells as well as in Kras(G12D)/p53(fl/fl) (KP) genetically engineered mouse model of lung cancer. Systemic plasmid DNA delivery with dual CD44/EGFR-targeted hyaluronic acid (HA)-based nanoparticles (NPs) resulted in a 2- to 20-fold increase in wt-p53 and miR-125b gene expression in SK-LU-1 cells.

Downregulation of serotonin reuptake transporter gene expression in healing colonic mucosa in presence of remaining low-grade inflammation in ulcerative colitis.

Background And Aim: The serotonin reuptake transporter (SERT) terminates serotonin activity by removing it from interstitial space. Downregulated colonic SERT expression has been reported in irritable bowel disease (IBS), and symptoms resembling IBS occur in cases of inflammatory bowel disease (IBD) in remission; thus, a common pathogenesis for IBS and IBD is possible. However, little is known regarding SERT expression in colonic mucosa of IBD patients during healing.

Direct projection from the lateral habenula to the trigeminal mesencephalic nucleus in rats.

Trigeminal mesencephalic nucleus (Vmes) neurons are primary afferents conveying deep sensation from the masticatory muscle spindles or the periodontal mechanoreceptors, and are crucial for controlling jaw movements. Their cell bodies exist in the brain and receive descending commands from a variety of cortical and subcortical structures involved in limbic (emotional) systems. However, it remains unclear how the lateral habenula (LHb), a center of negative emotions (e.

Effects of acrosomal conditions of frozen-thawed spermatozoa on the results of artificial insemination in Japanese Black cattle.

The purposes of this study were to examine the relationship between male artificial insemination (AI) fertility and sperm acrosomal conditions assessed by new and conventional staining techniques and to identify possible reproductive dysfunctions causing low conception rates in AI using frozen-thawed spermatozoa with poor acrosomal conditions in Japanese Black bulls. We investigated individual differences among bulls in the results concerning (1) acrosomal conditions of frozen-thawed spermatozoa as assessed by not merely peanut agglutinin-lectin staining (a conventional staining technique) but also immunostaining of acrosomal tyrosine-phosphorylated proteins (a new staining technique), (2) routine AI using frozen-thawed spermatozoa as assessed by pregnancy diagnosis, (3) in vivo fertilization of frozen-thawed spermatozoa and early development of fertilized eggs as assessed by superovulation/AI-embryo collection tests and (4) in vitro fertilization of frozen-thawed spermatozoa with oocytes. The percentages of frozen-thawed spermatozoa with normal acrosomal conditions assessed by the abovementioned staining techniques were significantly correlated with the conception rates of routine AI, rates of transferable embryos in superovulation/AI-embryo collection tests and in vitro fertilization rates.

Fever pattern and C-reactive protein predict response to rescue therapy in Kawasaki disease.

Background: Evidence to guide rescue therapy in refractory Kawasaki disease (KD) is lacking. The aim of this study was to determine the most important variables in predicting non-response to rescue therapy in refractory KD.

Methods: We retrospectively analyzed 171 patients diagnosed with refractory KD resistant to initial i.

Genome-wide association study of IgA nephropathy using 23 465 microsatellite markers in a Japanese population.

Immunoglobulin A nephropathy (IgAN) is the most common form of primary glomerulonephritis in many parts of the world. Although previous genome-wide association studies (GWAS) identified the major susceptibility loci for IgAN, the causal genes currently remain unknown. We performed a GWAS using 23 465 microsatellite (MS) markers to identify genes related to IgAN in a Japanese population.

Detection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array.

Context: Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) is an autosomal recessive disease caused by biallelic mutations in the vitamin D receptor (VDR) gene. No patients have been reported with uniparental disomy (UPD).

Objective: Using genome-wide single nucleotide polymorphism (SNP) array to confirm whether HVDRR was caused by UPD of chromosome 12.