Myelin oligodendrocyte glycoprotein antibody-associated disease: an immunopathological study.

Conformation-sensitive antibodies against myelin oligodendrocyte glycoprotein (MOG) are detectable in patients with optic neuritis, myelitis, opticomyelitis, acute or multiphasic disseminated encephalomyelitis (ADEM/MDEM) and brainstem/cerebral cortical encephalitis, but are rarely detected in patients with prototypic multiple sclerosis. So far, there has been no systematic study on the pathological relationship between demyelinating lesions and cellular/humoral immunity in MOG antibody-associated disease. Furthermore, it is unclear whether the pathomechanisms of MOG antibody-mediated demyelination are similar to the demyelination patterns of multiple sclerosis, neuromyelitis optica spectrum disorders (NMOSD) with AQP4 antibody, or ADEM.

Non-invasive intravital observation of lingual surface features using sliding oral mucoscopy techniques in clinically healthy subjects.

To investigate intravital morphological features of the broader area of the lingual mucosa in clinically healthy subjects, and to attempt to evaluate subclinical conditions, we evaluated detailed intravital morphological features of the lingual mucosa using our newly developed oral contact mucoscopy techniques. Clinically healthy subjects (female: 19-22 years, average age: 20.27 years, and n = 28) were enrolled.

Elevation of Serum Acid Sphingomyelinase Activity in Acute Kawasaki Disease.

Kawasaki disease (KD) is an acute systemic vasculitis that affects both small and medium-sized vessels including the coronary arteries in infants and children. Acid sphingomyelinase (ASM) is a lysosomal glycoprotein that hydrolyzes sphingomyelin to ceramide, a lipid, that functions as a second messenger in the regulation of cell functions. ASM activation has been implicated in numerous cellular stress responses and is associated with cellular ASM secretion, either through alternative trafficking of the ASM precursor protein or by means of an unidentified mechanism.

Congenital hyperinsulinism in an infant with paternal uniparental disomy on chromosome 11p15: few clinical features suggestive of Beckwith-Wiedemann syndrome.

Beckwith-Wiedemann syndrome (BWS) is the most common congenital overgrowth syndrome involving tumor predisposition. BWS is caused by various epigenetic or genetic alterations that disrupt the imprinted genes on chromosome 11p15.5 and the clinical findings of BWS are highly variable.

Phenotypical variety of insulin resistance in a family with a novel mutation of the insulin receptor gene.

A novel mutation of insulin receptor gene (INSR gene) was identified in a three generation family with phenotypical variety. Proband was a 12-year-old Japanese girl with type A insulin resistance. She showed diabetes mellitus with severe acanthosis nigricans and hyperinsulinemia without obesity.

A case report of pediatric fulminant hepatitis treated with plasma diafiltration.

Plasma diafiltration (PDF) is blood purification therapy in which simple plasma exchange is performed with a membrane plasma separator while dialysate flows outside the hollow fibers. A 14-year-old boy with fulminant hepatitis underwent two sessions of PDF and one session of hemodiafiltration. We infused filtered replacement fluid for artificial kidneys at a dialysate flow rate of 600 mL/h and a replacement flow rate of 450 mL/h.

Split notochord syndrome: ileal duplication causing intermittent episodes of vomiting.

Split notochord syndrome is a group of developmental abnormalities caused by abnormal splitting or deviation of the notochord, clinically resulting in the duplicated bowel associated with vertebral anomalies. In this syndrome, initial presentations due to duplicated bowel, vomiting, abdominal pain, and failure to thrive, usually occur before 1 year of age. We here report a 12-year-old boy with intermittent vomiting, previously diagnosed with cyclic vomiting syndrome.

Pulse methylprednisolone therapy in type 3 adenovirus pneumonia with hypercytokinemia.

Adenovirus pneumonia is uncommon but its severe infection has a mortality as high as 10%, and survivors may have residual airway damages, manifested by bronchiectasis, bronchiolitis obliterans, or pulmonary fibrosis. We report a case of adenovirus pneumonia demonstrating fatal respiratory distress. Adenovirus was isolated from pharyngeal specimens using cell culture and typed as serotype 3 by a combination of polymerase chain reaction (PCR) and restriction fragment length polymorphism analysis.

Recurrent URAT1 gene mutations and prevalence of renal hypouricemia in Japanese.

Recent identification of the urate transporter in the kidney (URAT1, encoded by SLC22A12) led to the molecular elucidation of idiopathic renal hypouricemia, which is a predisposition toward exercise-induce acute renal failure. One Japanese patient with renal hypouricemia demonstrated compound heterozygous mutations of the URAT1 gene (Q297X and IVS2+1G>A). It was suggested that these two mutations are recurrent mutations of the URAT1 gene in a Japanese population.

Johanson-blizzard syndrome: loss of glucagon secretion response to insulin-induced hypoglycemia.

Johanson-Blizzard syndrome is a rare autosomal recessive disorder characterized by aplasia of the alae nasi, aplasia cutis, dental anomalies, postnatal growth retardation and pancreatic exocrine aplasia. Some endocrinological dysfunctions--growth hormone (GH) deficiency, hypothyroidism, and diabetes mellitus--are known to complicate this syndrome. We report here a Japanese infant with Johanson-Blizzard syndrome presenting with failure to thrive.

Merit of the cuff-shaving procedure in children with chronic infection.

Catheter replacement and cuff-shaving are per-formed as a surgical treatment against tunnel infection(TI) in patients on chronic peritoneal dialysis. The efficacy of catheter replacement is well established, but that of cuff-shaving is not. For the purpose of evaluating the efficacy of cuff-shaving, we compared the time interval between each procedure and subsequent TI.

Renovascular hypertension due to antithrombin deficiency in childhood.

Inherited antithrombin deficiency generally causes a predisposition toward vascular thrombus above the age of 15 years. A 1-year-old boy developed renal hypertension caused by renal artery obstruction due to thrombus formation. This thrombus formation was attributed to antithrombin deficiency caused by a novel SERPINCI gene mutation (AT III Akita, M352R).

Involvement of endothelial cell adhesion molecules in the development of anti-Thy-1 nephritis.

To study an involvement of glomerular endothelial cells in the development of anti-Thy-1 nephritis, we examined the expression of endothelial cell adhesion molecules during the course of this model. Ribonuclease protection assay elucidated that expression of mRNA for intercellular adhesion molecule-1 (ICAM-1) was markedly enhanced in the glomeruli with a peak at 2 h (6.5-fold, p < 0.