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A sensor-augmented pump (SAP) therapy is used to treat neonatal diabetes mellitus (NDM). We treated a case for which SAP therapy was successful and prevented hypoglycemia. The patient was a baby boy who was small for his gestational age. He had hyperglycemia at 4 days of age, and a diagnosis of NDM had previously been made at another hospital. A continuous intravenous insulin infusion was initiated. At 29 days of age, the patient was transferred to our hospital for further treatment. SAP therapy was initiated at 39 days, which was successful and prevented hypoglycemia. Gradually, blood glucose levels improved. The insulin infusion was stopped to determine if any potential pump issues arose prior to discharge; the patient's blood glucose level did not increase. The decision was therefore made to discharge the patient from the hospital at 58 days of age with discontinued insulin. After discharge, genetic analysis showed hypomethylation on one of the alleles within 6q24, leading to a diagnosis of 6q24-related diabetes mellitus. Although almost all 6q24-related NDM cases are transient, no evidence exists for the appropriate timing of insulin discontinuation. Retrospective continuous glucose monitoring (CGM) analysis showed improved standard deviation (SD) values as well as improved blood glucose variability. This experience suggested SD values of CGM may be used as an index for tapering and discontinuing insulin in SAP therapy. However, future collaborative studies at other centers that focus on SD values as a guide for insulin discontinuation in SAP are required. [ABSTRACT FROM AUTHOR]

In the present case, biopsy revealed large tumour cells with amphophilic eosinophilic cytoplasm and eccentric nuclei. Proximal-type vulvar epithelioid sarcoma masquerading as cellulitis in a young female A 30-year-old female was admitted to a nearby hospital, with high fever and painful induration on the bilateral thighs and genitalia, which had appeared 1 month previously. [Extracted from the article]

The patient was diagnosed as having linear IgA bullous dermatosis (LABD), and was treated with dapsone at an initial starting dose of 75 mg/day; thereafter a maintenance dose of 25-50 mg/day provided adequate control of the disorder. Pyoderma gangrenosum occurring 7 years after onset of linear IgA bullous dermatosis in a young woman We present a case of coexistence of pyoderma gangrenosum (PG) and linear IgA bullous dermatosis (LABD), with a 7-year interval between them. [Extracted from the article]

A case study describes a 31-year-old male with Noonan syndrome and tetralogy of Fallot presenting a solitary nodule on the left upper arm, diagnosed as ectopic syringocystadenoma papilliferum (SCAP). This rare variant of SCAP on the upper extremity, without nevus sebaceous association, highlights the possibility of unusual presentations and potential connections between Noonan syndrome and skin neoplasms, necessitating further research into underlying genetic alterations.

The article presents a case study of a 55-year-old woman admitted to the hospital for treatment of multiple myeloma. Topics discussed include the autologous peripheral blood stem cell transplantation received by the patient; the development of drug-induced hypersensitivity syndrome (DIHS) in the patient after it; and the treatment using fluconazole and sulfamethoxazole.

Background There have been no previous studies on the adequacy of combined evaluation of possible abusive head trauma cases by frontline medical personnel, hospital-based child protection teams, and child protective services in local districts of Japan. Methods We conducted a questionnaire survey of hospitalized patients under 24 months old with a diagnosis of intracranial hemorrhage (ICH) from January 2011 to December 2013. Eleven large-scale general hospitals in Yokohama, Japan were surveyed, which provide centralized inpatient care to moderately-severely ill children. Results A total of 51 ICH patients were listed from eight hospitals. Median patient age was 7 months, and 84% were younger than 12 months. The most common diagnosis on computed tomography was subdural hematoma (n = 26; 51%). Of a total of 51 cases, 31 (61%) occurred inside the home; the injury scene was unknown in six cases (12%). We reviewed these 37 cases from the viewpoint of evaluation with concern for suspected child abuse. Three out of 37 patients (8%) were not examined for inflicted skin lesions, and skeletal surveys and funduscopy were not conducted in 14 (38%) and 15 (41%), respectively. Thirteen out of 37 cases (35%) were not reported to hospital-based child protection teams and 22 (59%) were not reported to regional child protective services. Conclusion The sociomedical evaluation of possible child abuse appears to be systematically inadequate in Yokohama. [ABSTRACT FROM AUTHOR]

Background: Type 2 diabetes mellitus (DM) is a risk factor for macrovascular complications in adults. Recently young-onset type 2 DM has increased worldwide and the increase of macrovascular complications in the young is worrisome. Methods: Plasma values for plasminogen activator inhibitor-1 (PAI-1) as a marker for promotion, and adiponectin as a marker for inhibition of atherosclerosis, were compared in 33 patients with type 1 DM (16 boys, 17 girls; age 14.9 ± 3.7 years, mean ± standard deviation) with those of 43 patients with type 2 DM (15 boys, 28 girls; age 16.5 ± 3.5 years). Results: The PAI-1 level was significantly higher (19.3 ± 8.1 vs 32.9 ± 17.2 ng/ml; P < 0.001) and the adiponectin level was significantly lower (10.1 ± 3.8 vs 7.4 ± 3.7 µg/ml; P < 0.005) in the type 2 DM group. In obese patients, the PAI-1 level was significantly higher ( P < 0.005) and the adiponectin level was lower ( P= 0.15) in the type 2 DM group. Also, in the non-obese subjects, the PAI-1 level was significantly higher ( P < 0.05) and the adiponectin level was lower ( P= 0.11) in the type 2 DM group. Conclusions: Even in young patients, type 2 DM is a risk factor for macrovascular complications compared with type 1 DM. [ABSTRACT FROM AUTHOR]

Although guselkumab is recently approved for PPP/PAO, its effects on the joint manifestation in a real-world setting is not yet unknown, and because of the high cost of guselkumab, there are many patients with PAO who cannot benefit from biologic therapy. Two patients developed PPP lesions prior to the onset of arthralgia, and three patients developed PAO almost simultaneously with PPP. One patient underwent tonsillectomy and one patient had odontogenic infection and underwent dental treatment; however, joint manifestation persisted. [Extracted from the article]

Yokota Y, Kikuchi N, Matsuura N. Screening for diabetes by urine glucose testing at school in Japan. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented on case studies of pyoderma gangrenosum (PG) in two women after surgical procedures including cesarian operation and appendectomy, respectively.

The article presents case study of 69-year-old female was admitted to our hospital complaining of itchy eruptions on the face, trunk, and extremities and her physical examination revealed edematous erythema on bilateral eyelids. It mentions the increase of slight increases of aspartate aminotransferase (AST), alanine aminotransferase (ALT), and lactate dehydrogenase (LDH) levels. It also mentions that histopathologically diagnosed as papillary thyroid cancer and left breast cancer.

The article discusses how although majority of basal cell carcinoma (BCC) occurs on sun-exposed areas of the body, BCC develops sun-protected areas and mentions that unusual sites include breasts, perianal and genitalia. Topics disucssed include BCC seen in patients who did not have any history of radiation therapy, sunburn and trauma, no hereditary disease such and immunodeficiency and bilateral tumors presented with unusual clinical appearance such as yellowish color.

The article presents a case study of a 77-year-old woman who was taken to the hospital for the surgery of facial lentigo maligna. She was also examined with multiple whitish nodules, petechiae on the digits and hands, plaques on the upper palpebras and around the anus and brittle nails. She was diagnosed with systemic amyloid light-chain (AL) amyloidosis exhibiting multiple milia.

Here, we report a rare case of small bowel volvulus with chylous ascites. A 93-year-old man with a medical history of angina pectoris presented to the emergency department with abdominal pain. Computed tomography revealed a whirl sign of the mesenteric vessels with the axis of the superior mesenteric artery. A diagnosis of small bowel volvulus was made, and emergency surgery was performed. Laparoscopic examination revealed chylous ascites. Due to severe intestinal edema and difficulty in manipulating the forceps, surgery was transferred to a laparotomy. The entire small bowel was twisted 360° counterclockwise, requiring manual untwisting. Examination of the intestinal tract after untwisting revealed no evidence of ischemia or necrosis. However, because a diverticulum was observed on the mesenteric side of the upper jejunum and considering the influence of secondary small bowel volvulus, partial small bowel resection was performed. The patient had a favorable postoperative course. [ABSTRACT FROM AUTHOR]

A response by Sultan Al-Khenaizan and other authors to a letter to the editor about their bacteriological studies is presented.

The article presents a case study of a 70-year-old Japanese woman who has swollen fingers on both hands. The woman noticed that her fingers chilled the year before she asked the help of help experts. She underwent physical and laboratory examinations that revealed the condition of her fingers and forearms. Moreover, the article provides information on the primary localized coetaneous amyloidosis (PLCA), including the two cases of PLCA and the condition of the patients.

Dear Editor, A 57-year-old woman was diagnosed with sarcoidosis based on iritis, increased serum levels of angiotensin converting enzyme (ACE) and lysozyme, and bilateral hilar lymphadenopathy on chest x-ray and computed tomography scan 1 year and 3 months previously, and was under follow-up at the Respiratory Medicine and Ophthalmology Departments. Although she had been diagnosed with sarcoidosis, no skin lesions suggestive of sarcoidosis were observed. [Extracted from the article]

Pemphigus foliaceus (PF) is one of the causes of erythroderma; however, to date, there have been relatively few reported cases. We herein describe 6 cases of erythrodermic PF. In all 6 cases, PF was a direct cause of erythroderma because the patients had not undergone any medical treatments and neither had any other skin diseases nor were taking any drugs that typically cause erythroderma. Serum levels of IgE and thymus and activation-regulated chemokine were elevated in 5 of the 6 cases, whereas soluble interleukin-2 receptor and squamous cell carcinoma-related antigen were markedly increased in all cases, suggesting that those markers are strong indicators of skin surface damage. All patients were treated with predonisolon (PSL), of which PSL pulse was added in 4 patients and intravenous immunoglobulin was added in 4 patients. Furthermore, all patients except for one were older adults, among whom 2 cases developed Kaposi's varicelliform eruption, and died, and another 2 patients, respectively, died of gastrointestinal bleeding and sepsis. Kaposi's varicelliform eruption is a complication of erythrodermic PF associated with poor prognosis, and thus caution is necessary when considering the diagnosis. Furthermore, elderly people are more likely to have complications due to PSL, which may result in death. Inappropriate treatment and delay in treatment may cause erythroderma, so early diagnosis and treatment are necessary. [ABSTRACT FROM AUTHOR]

Diffuse large B-cell lymphoma with immature features or B-cell lymphoblastic lymphoma? Primary cutaneous diffuse large B-cell lymphoma, leg type (PCDLBCL-LT) is a distinct subtype of mature B-cell lymphoma that preferentially affect the lower legs of the elderly and shows an aggressive clinical behavior. TdT-positive primary cutaneous diffuse large B-cell lymphoma, leg type phenotypically mimicking B-lymphoblastic lymphoma. [Extracted from the article]

Aims/Introduction: We compared the results of testing for glutamic acid decarboxylase antibodies (GADAb) using a radioimmunoassay (RIA) and an enzyme‐linked immunosorbent assay (ELISA) in individuals with childhood‐onset type 1 diabetes mellitus. Materials and Methods: Serum specimens were collected from 1,024 Japanese children (426 boys and 598 girls) in 2013. The median age at diagnosis was 7 years (0–18 years). The blood specimens were obtained at a median age of 13 years (2–22 years). Results: Among the 628 children whose serum specimens were collected within 5 years after diagnosis, the rate of GADAb positivity was 47.9% using RIA and 69.4% using ELISA. The participants were divided into four groups according to their RIA and ELISA results for GADAb as follows: group I (RIA+/ELISA+), group II (RIA+/ELISA−), group III (RIA−/ELISA+) and group IV (RIA−/ELISA−). The clinical and genetic characteristics of group I and group III were quite similar in terms of age at diagnosis, male/female ratio, relatively high positive rates for both autoantibody to protein tyrosine phosphatase IA‐2 and autoantibody to the cation efflux transporter zinc transporter 8, and human leukocyte antigen genotype. Group II contained just five patients, and was characterized by a younger age at diagnosis, low positive rates for both autoantibody to protein tyrosine phosphatase IA‐2 and autoantibody to the cation efflux transporter zinc transporter 8, and a unique human leukocyte antigen genotype. If the positive rates of either autoantibody to protein tyrosine phosphatase IA‐2 or autoantibody to the cation efflux transporter zinc transporter 8 or both were added to the GADAb results using RIA, the percentage of autoimmune type 1 diabetes increased from 47.9% to 78.5%. Conclusions: The diagnosis of autoimmune childhood‐onset Japanese type 1 diabetes increased when GADAb results were obtained using a new ELISA method, compared with a previously utilized RIA method. [ABSTRACT FROM AUTHOR]

Background: Mutations in causative genes for neonatal diabetes or maturity‐onset diabetes of the young have been identified in multiple patients with autoantibody‐negative type 1 diabetes (T1D). Objectives: We aimed to clarify the prevalence and phenotypic characteristics of monogenic abnormalities among 89 children with autoantibody‐negative insulin‐requiring T1D. Methods: Mutations in 30 genes were screened using next‐generation sequencing, and copy‐number alterations of 4 major causative genes were examined using multiplex‐ligation‐dependent probe amplification. We compared the clinical characteristics between mutation carriers and non‐carriers. Results: We identified 11 probable pathogenic substitutions (6 in INS , 2 in HNF1A , 2 in HNF4A , and 1 in HNF1B ) in 11 cases, but no copy‐number abnormalities. Only 2 mutation carriers had affected parents. De novo occurrence was confirmed for 3 mutations. The non‐carrier group, but not the carrier group, was enriched with susceptible HLA alleles. Mutation carriers exhibited comparable phenotypes to those of non‐carriers, except for a relatively normal body mass index (BMI) at diagnosis. Conclusions: This study demonstrated significant genetic overlap between autoantibody‐negative T1D and monogenic diabetes. Mutations in INS and HNF genes, but not those in GCK and other monogenic diabetes genes, likely play critical roles in children with insulin‐requiring T1D. This study also suggests the relatively high de novo rates of INS and HNF mutations, and the etiological link between autoimmune abnormalities and T1D in the non‐carrier group. Carriers of monogenic mutations show non‐specific phenotypes among all T1D cases, although they are more likely to have a normal BMI at diagnosis than non‐carriers. [ABSTRACT FROM AUTHOR]

Background and Objectives: Our aim was to investigate the safety of iEAT (a food that is softened by heat and enzyme homogeneous permeation) and iEAT-affected nutrition parameters, e.g., nutrition intake (calculated from the consumption rate in patients with impaired mastication and those with mild dysphagia).Methods and Study Design: A multicenter, randomized, cross-over study of iEAT was conducted in 50 patients (mean age 77.0±11.0 years) with dysphagia due to Occasional aspiration (4 points on the Dysphagia Severity Scale [DSS]) or Oral problems (5 points) randomly assigned to the study diet (iEAT) or its opposite (the modified traditional [control] diet) for 1 week and then switched for 1 week to the opposing diet. Intake of energy, protein, lipid, carbohydrate, and sodium were evaluated along with questionnaire-assessed levels of satisfaction.Results: The mean intake was significantly lower for the study diet, whereas the intakes of energy, protein, carbohydrate on day 1, intake of protein on day 7, and body weight on day 7 were significantly higher for the study diet. We found no between-group differences in hematologic and blood biochemistry parameters, no diet-related adverse events, greater satisfaction with the appearance of the study diet (p<0.001), and comparable levels of satisfaction with ease of eating, ease of swallowing, and taste for both diets.Conclusions: iEAT was provided to patients with mild dysphagia as safely as a blender diet or other diets usually provided at each study site, and can serve as an efficient nutrition source. [ABSTRACT FROM AUTHOR]

Objective Although insulin analogs have dramatically changed diabetes treatment, scarce evidence is available on those effects. We aimed to explore whether glycemic control had improved, the use of insulin analogs had been increased, and hypoglycemic events had decreased over time in Japanese pediatric patients with type 1 diabetes ( T1D). Methods Glycated hemoglobin A1c ( HbA1c) values, proportion of insulin regimens, incidence of severe hypoglycemic events, and pubertal increase in HbA1c were compared in three cohorts of childhood-onset Japanese T1D patients (567 subjects in the 1995 cohort, 754 subjects in the 2000 cohort, and 806 subjects in the 2008 cohort). Results Mean HbA1c values tended to decrease [78.5 mmol/mol (9.33%) in the 1995 cohort, 68.2 mmol/mol (8.39%) in the 2000 cohort, and 61.2 mmol/mol (7.75%) in the 2008 cohort; P < .0001]. The proportion of patients who received basal-bolus treatment tended to increase with statistical significance, as did the proportion on insulin analogs. The incidence of severe hypoglycemic events (events/100 patients/y) had decreased (19.1 in the 2000 cohort and 8.7 in the 2008 cohort; P = .02). The pubertal increase in HbA1c tended to decrease [males, 12.0 mmol/mol (1.10%) in 1995, 9.4 mmol/mol (0.85%) in 2008, and 9.4 mmol/mol (0.86%) in 2008; P = .55; females, 14.0 mmol/mol (1.28%) in 1995, 10.3 mmol/mol (0.94%) in 2000, and 4.2 mmol/mol (0.38%) in 2008; P = .0003]. Conclusions Glycemic control and incidence of severe hypoglycemic events were chronologically improved, especially in female adolescents. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 53-year-old man who was complaining of skin lesions on his right buttock when he was admitted to a hospital. The skin lesion was noticed 20 years ago, but only started to spread after 10 years. Also revealed is his past medical history that included rheumatoid arthritis (RA) and diabetes mellitus (DM), in which RA was treated with prednisolone and non-steroidal anti-inflammatory drugs (NSAIDs).

Aims A majority of children with Type 1 diabetes in Japan are registered with the government-subsidized Specified Pediatric Chronic Disease Treatment Research Projects ( SPCDTRP). In this study, the incidence and prevalence of childhood-onset (< 15 years) Type 1 diabetes in Japan were estimated by drawing on SPCDTRP data. Methods Data available for 2005-2012 from the SPCDTRP and Statistics Bureau, Ministry of Internal Affairs and Communications were used to estimate the incidence of Type 1 diabetes for 2005-2010, adjusted to cover those registered within 3 years of disease onset and stratified by sex, age at onset and period of onset. Results The incidence of Type 1 diabetes for 2005-2010 was 2.25/100,000 persons [95% confidence intervals (95% CI), 2.14-2.36] (boys: 1.91, 95% CI, 1.83-1.98; girls: 2.52, 95% CI, 2.34-2.69), with that for the age brackets 0-4, 5-9 and 10-14 years being 1.48 (95% CI, 1.29-1.66), 2.27 (95% CI, 2.08-2.47) and 3.00 (95% CI, 2.74-3.25), respectively. The onset of disease was shown to peak at age 13 among boys (3.28, 95% CI, 3.02-3.55) and at age 10 among girls (3.28, 95% CI, 3.02-3.55). The peak periods of disease onset were April/May and December. The number of children aged < 15 years with Type 1 diabetes for 2005-2012 was estimated to be 2326 (95% CI, 2202-2450) with the prevalence estimated as 13.53/100,000 persons (95% CI, 12.63-14.43). Conclusions Study findings demonstrated no increase in the incidence of Type 1 diabetes, although suggesting, in agreement with earlier reports, that the onset of disease peaks in adolescence with a female predominance. In addition, the incidence of childhood-onset diabetes exhibited an annual bimodal pattern in this study. [ABSTRACT FROM AUTHOR]

Aims/Introduction Although genome-wide association studies have identified more than 50 susceptibility genes for type 1 diabetes, low-frequency risk variants could remain unrecognized. The present study aimed to identify novel type 1 diabetes susceptibility genes by newly established methods. Materials and Methods We carried out whole-exome sequencing and genome-wide copy-number analysis for a Japanese family consisting of two patients with type 1 diabetes and three unaffected relatives. Further mutation screening was carried out for 127 sporadic cases. The functional consequences of identified substitutions were evaluated by in silico analyses and fluorescence-activated cell sorting of blood samples. Results Whole-exome sequencing and genome-wide copy-number analysis of familial cases showed co-segregation of the p.V863L substitution in CD101, the human homolog of an autoimmune diabetes gene in the non-obese diabetic mouse, with type 1 diabetes. Mutation screening of CD101 in 127 sporadic cases detected the p.V678L and p.T944R substitutions in two patients. The p.V863L, p.V678L and p.T944R substitutions were absent or extremely rare in the general population, and were assessed as 'probably/possibly damaging' by in silico analyses. CD101 expression on monocytes, granulocytes and myeloid dendritic cells of mutation-positive patients was weaker than that of control individuals. Conclusions These results raise the possibility that CD101 is a susceptibility gene for type 1 diabetes. [ABSTRACT FROM AUTHOR]

Background: Liraglutide is one of the glucagon-like peptide-1 analogs; there are only a few reports of liraglutide being used for the treatment of insulin allergy. Furthermore, anti-insulin immunoglobulin G antibodies are occasionally detected in patients with diabetes. Hence, we report a case in which switching to liraglutide therapy ameliorated both the symptoms of insulin allergy with hypereosinophilia and the characteristics of insulin antibodies in a patient with type 2 diabetes mellitus.Case Presentation: We present the case of a 70-year-old Japanese man with type 2 diabetes who developed insulin allergy with hypereosinophilia. Anti-insulin antibodies, high glycated hemoglobin levels (approximately 12 %), and high serum insulin levels were detected. Because a change in his insulin treatment was inefficient, treatment with liraglutide to protect residual insulin secretion was started, resulting in improvements in his insulin allergy, serum glycated hemoglobin, insulin, and eosinophil levels. Scatchard plots revealed decreased binding capacity and increased affinity constant for high affinity sites of anti-insulin antibodies.Conclusions: Liraglutide might be useful for treating insulin allergy and anti-insulin antibodies in patients with type 2 diabetes. [ABSTRACT FROM AUTHOR]

Aims/Introduction Brachial artery flow-mediated dilation ( FMD) is a method of evaluating the function of vascular endothelial cells and is utilized for early diagnosis of atherosclerotic diseases. Only a few studies evaluated the risks for major vascular complications in youth with type 1 and 2 diabetes mellitus from the aspect of the early development of atherosclerosis. We studied whether there is a difference in vascular endothelial cell function between youth with type 1 and 2 diabetes mellitus. Materials and Methods We assessed % FMD of 24 patients with type 1 diabetes mellitus and 27 patients with type 2 diabetes mellitus aged 12-20 years along with glycated hemoglobin, lipid metabolism markers such as triglycerides, and inflammatory biomarkers such as total adiponectin levels in adolescent patients with type 1 or 2 diabetes mellitus. The significance of the difference in each factor between the type 1 and type 2 diabetes groups was assessed using Student's t-test. Results The % FMD was significantly lower in patients with type 2 diabetes. The body mass index and blood pressure were significantly higher, and total and high-molecular-weight adiponectin levels were significantly lower in patients with type 2 diabetes. % FMD significantly correlated with systolic blood pressure. Conclusions The results suggest that youth with type 2 diabetes have more advanced damage of the vascular endothelium and therefore are at higher risk for major vascular complications. Therefore, monitoring the progression of atherosclerosis would also be beneficial in youth with diabetes mellitus, and measurement of FMD could be further warranted. [ABSTRACT FROM AUTHOR]

Background The etiology of type 1 diabetes ( T1D) is heterogeneous and is according to presence or absence of pancreatic autoantibodies divided into two subtypes: type 1A (autoimmune-mediated) and type 1B (non-autoimmune-mediated). Although several genes have been linked to type 1A diabetes, the genetic cause of type 1B diabetes in Japanese individuals is far from understood. Objective The aim of this study was to test for monogenic forms of diabetes in auto antibody-negative Japanese children with T1D. Methods Thirty four (19 males and 15 female) unrelated Japanese children with glutamate decarboxylase ( GAD) 65 antibodies and/or IA-2A-negative T1D and diabetes diagnosed at < 5 yr of age were recruited from 17 unrelated hospitals participating in the Japanese Study Group of Insulin Therapy for children and adolescent diabetes ( JSGIT). We screened the INS gene and the KCNJ11 gene which encode the ATP-sensitive potassium cannel by direct sequencing in 34 Japanese children with T1D. Results We identified three novel ( C31Y, C96R, and C109F) mutations and one previously reported mutation ( R89C) in the INS gene in five children, in addition to one mutation in the KCNJ11 gene ( H46R) in one child. These mutations are most likely pathogenic and therefore the cause of diabetes in carriers. Conclusion Our results suggest that monogenic forms of diabetes, particularly INS gene mutations, can be detected in Japanese patients classified with type 1B. Mutation screening, at least of the INS gene, is recommended for Japanese patients diagnosed as autoantibody negative at <5 yr of age. [ABSTRACT FROM AUTHOR]

Human parechovirus-3 (HPeV-3) has been reported to cause a sepsis-like illness in neonates and young infants. We experienced the occurrence of HPeV-3 infection in nine neonates and young infants (eight boys, one girl; aged 14-52 days, median 31 days). They were admitted to our hospital with the chief complaints of fever persisting for 3-5 days (median 4 days) and lethargy. Five infants presented with abdominal distension and six had a rash (including acral reddening), as was previously reported with this viral infection. Abdominal distension with navel protrusion and acral reddening during the course were characteristic. Laboratory data were characterized by elevated values for serum AST, LDH, FDP, D-dimer, ferritin, soluble IL-2 receptor, triglyceride, choline esterase, and urinary β-microglobulin. Two of our nine patients presented with a hemophagocytic lymphohistiocytosis (HLH)-like illness and required specific therapy. These data suggest that HPeV-3 is an important virus that can cause hypercytokinemia, which sometimes leads to HLH, and systemic inflammatory response syndrome in neonates and young infants. [ABSTRACT FROM AUTHOR]

Potential improvements of aerosols algorithms for future climate-oriented satellites such as the coming Global Change Observation Mission Climate/Second generation Global Imager (GCOM-C/SGLI) are discussed based on a validation study of three years' (2008-2010) daily aerosols properties, that is, the aerosol optical thickness (AOT) and the Ångström exponent (AE) retrieved from two MODIS algorithms. The ground-truth data used for this validation study are aerosols measurements from 3 SKYNET ground sites. The results obtained show a good agreement between the ground-truth data AOT and that of one of the satellites' algorithms, then a systematic overestimation (around 0.2) by the other satellites' algorithm. The examination of the AE shows a clear underestimation (by around 0.2-0.3) by both satellites' algorithms. The uncertainties explaining these ground-satellites' algorithms discrepancies are examined: the cloud contamination affects differently the aerosols properties (AOT and AE) of both satellites' algorithms due to the retrieval scale differences between these algorithms. The deviation of the real part of the refractive index values assumed by the satellites' algorithms from that of the ground tends to decrease the accuracy of the AOT of both satellites' algorithms. The asymmetry factor (AF) of the ground tends to increase the AE ground-satellites discrepancies as well. [ABSTRACT FROM AUTHOR]

Background: This multicenter observational study was conducted to investigate the efficacy and safety of insulin detemir (detemir) for diabetes management in Japanese children and adolescents. Methods: Data from the Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes database were analyzed. Ninety children (32 boys, 58 girls; mean age, 11.9 ± 3.8 years) who transferred from a neutral protamine Hagedorn insulin or insulin glargine basal-bolus regimen to detemir basal-bolus therapy and who were observed for at least 12 months were identified. Clinical data obtained at 0, 3, 6, and 12 months were analyzed to determine the type of bolus insulin used, number and timing of detemir injections, detemir dose as a proportion of the total insulin dose, hemoglobin A1c (HbA1c), fasting blood glucose (FBG) and frequency of severe hypoglycemia. Results: Twelve months after switching to detemir, the detemir dose represented 39.8% of the total insulin dose, and 37.8% of patients were being treated with twice-daily injections. HbA1c and FBG were significantly reduced from baseline at 3 and 6 months but not at 12 months. Considering the seasonal HbA1c variation in the Japanese population, a separate analysis was performed using data for 65 children (21 boys, 44 girls; mean age, 11.6 ± 2.9 years) who switched to detemir during the winter. Subset analysis showed significant HbA1c reductions from baseline at all specified times. The incidence of severe hypoglycemia during detemir treatment was 4.4 episodes per 100 patient-years. Conclusions: Detemir is an effective and safe basal insulin for diabetes management in Japanese children and adolescents. [ABSTRACT FROM AUTHOR]

Sugihara S, Ogata T, Kawamura T, Urakami T, Takemoto K, Kikuchi N, Takubo N, Tsubouchi K, Horikawa R, Kobayashi K, Kasahara Y, Kikuchi T, Koike A, Mochizuki T, Minamitani K, Takaya R, Mochizuki H, Nishii A, Yokota I, Kizaki Z, Mori T, Shimura N, Mukai T, Matsuura N, Fujisawa T, Ihara K, Kosaka K, Kizu R, Takahashi T, Matsuo S, Hanaki K, Igarashi Y, Sasaki G, Soneda S, Teno S, Kanzaki S, Saji H, Tokunaga K, Amemiya S, and The Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes (JSGIT). HLA-class II and class I genotypes among Japanese children with Type 1A diabetes and their families. Objective: To determine the HLA-DRB1, DQB1, DPB1, A, C, and B genotypes among Japanese children with autoimmune type 1 diabetes. Methods: Four hundred and thirty patients who were GADAb and/or IA-2Ab-positive (Type 1A) were recruited from 37 medical centers as part of a nationwide multicenter collaborative study. DNA samples from 83 siblings of the children with Type 1A diabetes and 149 parent-child trios were also analyzed. A case-control study and a transmission disequilibrium test (TDT) were then performed. Results: The susceptible and protective DRB1 and DQB1 alleles and haplotypes were confirmed. DPB1 alleles unique to the Japanese population and those common to multiple ethnic groups were also present. A linkage disequilibrium (LD) analysis showed both susceptible and protective haplotypes. The TDT did not reveal any alleles that were transmitted preferentially from the mother or father to children with Type 1A. Homozygosity for DRB1∗09:01-DQB1∗03:03 and heterozygosity for DRB1∗04:05-DQB1∗04:01 and DRB1∗08:02-DQB1∗03:02 were associated with an extremely high risk of Type 1A. A comparison of children with Type 1A and their parents and siblings suggested a dose effect of susceptible DRB1-DQB1 haplotypes and an effect of protective alleles on immunological pathogenesis. DRB1∗09:01 appeared to be strongly associated with an early onset in preschool children with Type 1A diabetes. Conclusions: This study demonstrated the characteristic association of HLA-class II and class I genes with Type 1A diabetes among Japanese children. A TDT did not reveal the genomic imprinting of HLA-class II and class I genes in Type 1A diabetes. [ABSTRACT FROM AUTHOR]

In this work, the Greenhouse Gases Observing Satellite ( GOSAT) Thermal and Near-infrared Sensor for Carbon Observation--Cloud and Aerosol Imager (TANSO-CAI) cloud screening results, which are necessary for the retrieval of carbon dioxide (CO2) and methane (CH4) gas amounts from GOSAT TANSO--Fourier Transform Spectrometer (FTS) observations, are compared with results from Aqua/Moderate Resolution Imaging Spectroradiometer (MODIS) in four seasons. A large number of pixels, acquired from both satellites with nearly coincident locations and times, are extracted for statistical comparisons. The same cloud screening algorithm was applied to both satellite datasets to focus on the performance of the individual satellite sensors, without concern for differences in algorithms. The comparisons suggest that CAI is capable of discriminating between clear and cloudy areas over water without sun glint and also may be capable of identifying thin cirrus clouds, which are generally difficult to detect without thermal infrared or near-infrared bands. On the other hand, cloud screening over land by CAI resulted in greater cloudy discrimination than that by MODIS, whereas detection of thin cirrus clouds tended to be more difficult over land than water, resulting in incorrect identification of thin cirrus as clear. The amount of missed thin cirrus had a seasonal variation, with the maximum occurring in summer. The cloudy tendency of CAI over half vegetation is caused by lack of an effective threshold test that can be applied to MODIS. The statistical results of the comparison clarified the important points to consider when using the results of CAI cloud screening. [ABSTRACT FROM AUTHOR]

Abstract: We present the first reported case of Menkes disease caused by an Alu element insertion mutation that interfered with splicing regulatory elements. A whole young AluYa5a2 element, which was 382-bp long, was identified within exon 9 of the ATP7A gene, and all of exon 9 was aberrantly skipped in the cDNA, resulting in severely truncated proteins. To confirm whether the aberrant skipping resulted in Alu insertion, an exonic splicing enhancer finder was used. The Alu element created two new high-score exonic splicing enhancer sequences in the mutation located near the site of the insertion. Exon 9, which encodes the first and second transmembrane domains, is necessary for the normal function of the ATP7A protein. [Copyright &y& Elsevier]

Abstract: There has been a lack of consensus among results of assays for insulin autoantibody (IAA) carried out by different laboratories, despite a reduction in the non-specific effect using a cold insulin competitor in radioimmunoassays (RIAs) for IAA in type I diabetes. We speculated that the discrepancies are partly a result of the non-specific binding (NSB) of [125I]insulin to unidentified molecules in serum on polyethylene glycol separation, and tried to improve IAA RIAs. The molecular weight of a candidate for the factor causing NSB was estimated to be about 700kDa by gel filtration analysis, resembling that of alpha 2-macroglobulin (a2M). Further, the addition of purified a2M to the assay resulted in an increase in NSB. Screening revealed that heterocyclic compounds, such as isothiazolinone derivatives (ProClin300), were greatly effective at reducing NSB in control subjects from 2.904±0.909% to 1.347±0.254% (n =283, mean±SD, p <0.0001). Using our newly developed IAA RIA with ProClin300, the sensitivity for newly diagnosed type I diabetes patients (n =55) was 32.7% and 30.9% with or without insulin competition, respectively, whereas that of the former assay without ProClin300 was only 20.0%. [Copyright &y& Elsevier]

Aims: Slowly progressing insulin-dependent diabetes mellitus (SPIDDM, hereafter referred to as IDDMS in this article) is a unique subtype of type 1 diabetes in Japanese children. To clarify the genetic background of IDDMS, we analyzed HLA-DRB1, -DQB1 and -DQA1 alleles, phenotypes, and genotypes and compared them with acute-onset type 1 diabetes, non-insulin-dependent diabetes mellitus (NIDDM), and control subjects. Methods: HLA-DRB1, -DQA1, and -DQB1 types were defined by DNA analysis using polymerase chain reaction (PCR), and typing for human leukocyte antigen (HLA) was performed by the sequencing-based typing (SBT) method using Match Maker and MT Navigator in combination. HLA-A24 was determined by the PCR-sequence-specific oligo-nucleotide probe (PCR-SSOP) method. The 234 patients with type 1 diabetes were divided into three groups: 32 cases of IDDMS, 137 cases of acute-onset form aged more than 5 yr (IDDMA), and 65 cases of acute-onset form less than 5 yr of age at onset (IDDME). In addition, we studied 55 children with type 2 diabetes (NIDDM) and 97 normal controls. Results: The patients with IDDMS were older at diagnosis and had a greater body mass index (BMI) than those with IDDM (A + E). The prevalence of islet autoantbodies was not significantly different from IDDMA. The allele frequencies of DRB1*0405, DQA1*0302, and DQB1*0401 were significantly increased; however, DRB1*0901, DQA1*03, DQB1*0303, and HLA-A24 were low and not significantly different from control subjects. Conclusions: HLA phenotypes and genotypes in patients with IDDMS were different from those in NIDDM and control subjects and were closer to those of IDDMA. Together with a low prevalence of HLA-A24, the genetic features are similar to those of SPIDDM and latent autoimmune diabetes in adults (LADA) in adults. In our series, the clinical features such as lack of obesity and lack of responsiveness to oral hypoglycemic agents were most different from those of adults' onset. [ABSTRACT FROM AUTHOR]

Abstract: We present an 11-year-old boy diagnosed as having acute encephalopathy and liver failure with the underlying condition of a metabolic dysfunction. He developed convulsions and severe consciousness disturbance following gastroenteritis after the ingestion of some fried rice. He showed excessive elevation of transaminases, non-ketotic hypoglycemia and hyperammonemia, which were presumed to reflect a metabolic dysfunction of the mitochondrial beta-oxidation, and he exhibited severe brain edema throughout the 5th hospital day. He was subjected to mild hypothermia therapy for encephalopathy, and treated with high-dose methylprednisolone, cyclosporine and continuous hemodiafiltration for liver failure, systemic organ damage and hyperammonemia. The patient recovered with the sequela of just mild intelligence impairment. In this case, Bacillus cereus, producing emetic toxin cereulide, was detected in a gastric fluid specimen, a stool specimen and the fried rice. It was suggested that the cereulide had toxicity to mitochondria and induced a dysfunction of the beta-oxidation process. The patient was considered as having an acute encephalopathy mimicking Reye syndrome due to food poisoning caused by cereulide produced by B. cereus. [ABSTRACT FROM AUTHOR]