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Spi-B, a member of the E26 transformation-specific (ETS) family of transcription factors, plays an important role in B cell differentiation. Spi-B also functions in development of diffuse large B-cell lymphoma; thus, we hypothesized that it may participate in leukemogenesis of B-cell acute lymphoblastic leukemia (B-ALL). To test this hypothesis, we first generated an anti-Spi-B monoclonal antibody that recognized Spi-B on formalin-fixed, paraffin-embedded tissue sections. This antibody, designated S28-5, selectively stained B cell nuclei at the pre-plasma cell stage (including centrocytes and centroblasts in germinal centers) and nuclei of plasmacytoid dendritic cells, but not fully differentiated plasma cells, T cells, macrophages, or follicular dendritic cells. Employing S28-5, we then performed immunohistochemical staining of bone marrow aspiration biopsy specimens obtained from B-ALL patients (n =62). Cases that showed stronger nuclear S28-5 signals than T-cell ALL were scored positive. In 26 (42%) of 62 specimens, leukemic cells showed nuclear Spi-B expression, and positivity was associated with patient age at diagnosis, and serum uric acid and creatinine levels. Moreover, Spi-B-positive patients demonstrated significantly shorter overall survival than did Spi-B-negative patients. These results suggest that Spi-B expression may serve as a prognostic indicator of B-ALL. [ABSTRACT FROM AUTHOR]

The article presents a case study of a four year old girl presenting with fevers, gingival swelling, and tongue ulcers for three weeks. It is reported that the patient had a history of atopic dermatitis and was initially treated with oral acyclovir without improvement. Physical examination revealed various manifestations, including swollen gingiva, tongue ulcers, erythematous finger, erythematous papules with erosions, crusting of the finger, periungual erythema, and erythematous lesions.

The article presents a case study of a three year old boy who experienced a human parvovirus B19-induced aplastic crisis due to folate deficiency. It is reported that human parvovirus B19 (HPV B19) is known to infect erythroid progenitor cells, leading to hematopoietic arrest and aplastic crisis in individuals with chronic hemolytic anemia. It is further reported that the virus can also affect granulocyte and megakaryocyte lineages, causing neutropenia and thrombocytopenia.

The article presents a case study of a 16 year old boy admitted to the hospital with a persistent fever and lung abnormalities. It is reported that the patient was treated with oral prednisolone, leading to symptom resolution and radiological improvement. It explores the potential link between eosinophilic pneumonia and ulcerative colitis (UC), suggesting a connection between lung eosinophilia and inflammatory bowel disease.

Background: Our peripherally inserted central venous catheter (PICC) management plan for neonates previously included routine inspection for swelling and induration of the insertion site of a PICC using palpation. However, we discontinued routine palpation from July 13, 2018, owing to a peculiarly high incidence of PICC‐related phlebitis. The aim of this study was to prove that routine palpation was the cause of PICC‐related phlebitis. Methods: We retrospectively reviewed medical records of infants who were admitted to the neonatal intensive care unit and underwent PICC placement from January 2018 to January 2019. The infants were classified into palpating (before July 13, 2018) and non‐palpating (after or on July 13, 2018) groups. We analyzed and compared the incidence of PICC‐related phlebitis in the two groups. Results: Phlebitis related to PICC was more frequently observed in the palpating group (10/29 infants, 34.5%) than in the non‐palpating group (1/31, 3.2%) (P = 0.002). After discontinuation of routine palpating in PICC management, the frequency of non‐scheduled removal of the PICC due to phlebitis decreased. The indwelling period was significantly longer in the non‐palpating group than in the palpating group. Conclusions: Our results suggest that mechanical stimulation using palpation of the insertion site was the cause of PICC‐related phlebitis, resulting in early non‐scheduled removal. [ABSTRACT FROM AUTHOR]

Rosai-Dorfman disease (RDD) is an extremely rare benign histiocytic disorder that usually affects young adults. Extranodal involvement of the RDD is common and may occur in >40% of patients, but bone involvement occurs in <10% of cases. Furthermore, primary bone RDD is extremely rare. The present study reports a case of primary bone RDD arising in the infantile ilium. Plain radiographs and computed tomography (CT) revealed an osteolytic lesion at the peri-acetabular region of the patient's right ilium. Fluorodeoxyglucose positron emission tomography indicated an abnormal accumulation only in the right iliac bone, without any other accumulation. An open biopsy was performed and the diagnosis of primary RDD of bone in the ilium was made. The bone lesion exhibited spontaneous regression on radiography, and the patient was able to walk without any limping or pain at 8 months after the biopsy. After 18 months of follow-up, the bone lesion had completely disappeared, and no joint deformity was observed on radiography or CT. The present report described the clinicopathological details of this rare case and reviewed the relevant literature. [ABSTRACT FROM AUTHOR]

Ovomucoid-specific IgD increases in children who naturally outgrow egg allergy in a cross-sectional study Keywords: egg white; food allergy; IgD; IgG4; ovomucoid EN egg white food allergy IgD IgG4 ovomucoid 2607 2609 3 07/19/21 20210801 NES 210801 It has been shown that egg-allergic children have higher ovomucoid (OVM)-specific IgD (sIgD) levels compared to atopic controls.1 Within egg-allergic children, those with higher levels of OVM-sIgD have a decreased risk of anaphylaxis. GLO:1X5/01aug21:all14841-fig-0001.jpg PHOTO (COLOR): 1 Egg allergen-specific IgE, IgD, and IgG4 levels in egg-allergic and non-egg-allergic patients (NEA). [Extracted from the article]

Background: Although hepatic infantile hemangioma (IH) may correlate with consumptive hypothyroidism consequent to the overexpression of thyroid hormone inactivating enzyme by hemangioma cells, hypothyroidism has been rarely recognized in infants with cutaneous hemangioma. Case presentation: A male infant born at 28 weeks of gestational age with an extremely low birth weight (775 g) developed a massive cutaneous hemangioma on his neck and severe abdominal distension. Imaging examinations detected a small mass lesion in the brain but no hepatic hemangioma. Laboratory findings at the age of 26 days revealed hypothyroidism. Although high-dose levothyroxine therapy failed to normalize the thyroid function, hypothyroidism improved and cutaneous hemangioma regressed after initiating propranolol therapy. Conclusions: Our findings suggest that consumptive hypothyroidism should be considered as a critical comorbidity in patients with massive cutaneous IH. Propranolol therapy can effectively normalize thyroid function and cause hemangioma regression. [ABSTRACT FROM AUTHOR]

Background: The number of nephrons at birth is determined during fetal development and is modulated thereafter by postnatal podocyte injury. Hyperfiltration, caused by a reduced number of nephrons, is a risk factor for chronic kidney disease. It is therefore important to monitor the formation of nephrons. Methods: Urine samples were collected from infants within 1-2 days of birth, with follow-up sampling for preterm infants at 37-39 weeks of corrected age. Urinary levels of podocalyxin (PCX), β2-microglobulin (β2MG), N-acetyl-ß- D-glucosaminidase (NAG), total protein (TP), microalbumin (mAlb) and creatinine were measured and the relationship between these markers evaluated. Results: Seventy-nine neonates were enrolled in this study. Urinary levels of PCX at birth were higher than normal adult reference values, with levels increasing up to a gestational age of 36 weeks ( p = 0.0242). At 37-39 weeks corrected age, urinary levels of PCX decreased to adult levels. The levels of PCX in the urine at birth were not correlated to urinary levels of β2MG, NAG, TP and mAlb. Conclusions: An increased urinary level of PCX may be a marker of both active nephron formation and podocyte injury sustained at birth. As such, changes in urinary levels of PCX are likely to reflect adaptation of renal function to the extra-uterine environment. [ABSTRACT FROM AUTHOR]

Purpose: Bronchopulmonary dysplasia (BPD) is a respiratory complication characterized by abnormal alveolar development in premature infants. Geranylgeranylacetone (GGA) can induce heat shock protein (HSP) 70, which has cytoprotective effects against various stressors. Here, we investigated whether GGA protected neonatal lungs from hyperoxic stress in a murine BPD model, and measured the serum HSP70 levels in preterm humans treated with oxygen. Methods: Newborn mice were exposed to >90% oxygen and administered GGA or vehicle alone orally on days 1, 2, and 3 of life. At 2 days of age, HSP70 expression in the lung was determined by western blotting. At 8 days of age, the lungs were processed for histological analysis. Radial alveolar count (RAC) and mean linear intercept (MLI) were measured as parameters of alveolarization. Apoptosis was evaluated by the terminal deoxynucleotidyl transferase-mediated dUTP nick end labeling (TUNEL) method and cleaved caspase-3 immunohistochemistry. Serum HSP70 levels in preterm humans treated with oxygen were measured by enzyme-linked immunosorbent assay. Results: GGA administration enhanced the HSP70 expression to two-fold compared with normoxia-exposed and vehicle-treated mice. Hyperoxia reduced HSP70 expression, whereas GGA abrogated the effects. Hyperoxia-exposed mice exhibited more apoptotic cells in lung parenchyma and a more simplified alveolar structure with less RAC and larger MLI than normoxia-exposed mice. GGA suppressed the increase in apoptotic cells and the structural changes of the lungs induced by hyperoxia. Serum HSP70 levels of preterm human infants gradually decreased with age. Conclusions: GGA may attenuate hyperoxic injury in neonatal lungs and thereby may prevent the development of BPD. [ABSTRACT FROM AUTHOR]

Renal metastasis at diagnosis with neuroblastoma is rare. We present a 14-month-old boy who was diagnosed with high-risk neuroblastoma with multiple metastases, including bilateral kidneys. He received five cycles of induction chemotherapy and high-dose chemotherapy with autologous peripheral blood stem cell transplantation. All of the lesions shrank, and magnetic resonance imaging indicated that some of the metastases had disappeared. However, there were residual masses in the bilateral kidneys, and histological examination revealed the presence of tumor cells. Therefore, the patient underwent unrelated cord blood stem cell transplantation, which involved killer-ligand incompatibility in the graft-versus-host direction, in addition to human leukocyte antigen C and DRB1 mismatches. Three months later, tumor progression occurred from the residual mass in the sacral canal and a new lesion in the pancreas. Although tumor progression could not be controlled by additional chemotherapy and local radiotherapy, the metastatic nodules in bilateral kidneys did not increase in size before his death. To the best of our knowledge, this is the first report of neuroblastoma with bilateral renal metastases in the English medical literature. In addition, this case suggests that the combination of chemotherapy and immunotherapy may inhibit the progression of the renal lesions under certain conditions. [ABSTRACT FROM AUTHOR]

The patients with acute leukemia occasionally present with musculoskeletal symptoms initially, including bone pain, joint pain, muscular pain, and functional impairment. Without abnormal findings of peripheral blood cell counts or smear, the correct diagnosis tends to be delayed. Magnetic resonance imaging is often performed to examine musculoskeletal abnormalities; it can simultaneously reveal the bone marrow composition with high anatomical resolution and excellent soft tissue contrast. We present 4 pediatric patients who were initially diagnosed with acute pyogenic osteomyelitis or arthritis, based on the elevated white blood cell counts and/or C-reactive protein in addition to the localized high signal intensity on T2-weighted magnetic resonance images. Finally, they were diagnosed with B-cell precursor acute lymphoblastic leukemia by bone marrow examination. The period between the onset of musculoskeletal symptoms and the diagnosis of leukemia ranged from 20 days to 6 months. In all cases, the T1-weighted magnetic resonance images taken prior to detection of peripheral blood abnormality revealed diffuse low signal intensity of the bone marrow in regions adjacent or contralateral to localized musculoskeletal symptoms. These findings should raise the suspicion of leukemia even without abnormalities in peripheral blood. [ABSTRACT FROM AUTHOR]

Mutations in ACTN1, the gene encoding the actin-crosslinking protein α-actinin-1, cause autosomal dominant macrothrombocytopenia. α-Actinin-1 exists as antiparallel dimers, composed of an N-terminal actin-binding domain (ABD), four spectrin-like repeats (SLRs), which form the spacer rod, and a C-terminal calmodulin-like (CaM) domain. All of the previously reported ACTN1 mutations associated with macrothrombocytopenia reside within the ABD and the CaM domain and not within the SLR domain. In this report, we describe a mutation in SLR2 of α-actinin-1 (p.Leu395Gln) associated with familial macrothrombocytopenia. A 3-year-old boy and his mother both had this mutation. They showed a mild form of thrombocytopenia without severe bleeding, accompanied by an elevated mean platelet volume. Consistent with the previous reports of mutations that reside in the ABD or the CaM domain, immunofluorescence examination revealed disorganization of the actin cytoskeleton in Gln395 mutant-transduced Chinese hamster ovary cells. Our findings suggest a novel mechanism for the pathogenesis of ACTN1-related macrothrombocytopenia that does not involve functional domain mutations. [ABSTRACT FROM AUTHOR]

The article presents case study of 12-year-old girl, who developed fever and arthralgias on her neck, hip, and extremities and required supplemental oxygen for dyspnea and had inspiratory chest pain, but not cough. it mentions diagnosis of systemic juvenile idiopathic arthritis (sJIA); and mentions utility of positron emission tomography (PET) in diagnosing sJIA with lung involvement.

Background Most infants with pneumothorax have underlying conditions. Pneumocystis jirovecii pneumonia ( PCP) frequently occurs in patients with severe combined immunodeficiency ( SCID). The aim of this study was to determine clinical features of PCP-associated pneumothorax in SCID patients. Methods The medical records of four SCID patients with pneumothorax were retrospectively reviewed. Results All four patients were diagnosed as having SCID at the time of contracting PCP. All patients received mechanical ventilation because of severe respiratory failure. Only one patient was successfully extubated and was alive following hematopoietic stem cell transplantation ( HSCT); of the remaining patients, however, two died of respiratory failure, and one patient died of early HSCT-related complications. Conclusions Pneumothorax associated with PCP can occur in SCID patients, and they may have a poor prognosis. If pneumothorax occurs in infants, both respiratory management and prompt investigation of the underlying conditions are needed, considering the possibility of PCP associated with SCID. [ABSTRACT FROM AUTHOR]

Objectives. Aicardi–Goutières syndrome (AGS) is a rare, genetically determined, early onset progressive encephalopathy associated with autoimmune manifestations. AGS is usually inherited in an autosomal recessive manner. The disease is rare, therefore the clinical manifestations and genotype–phenotype correlations, particularly with regard to autoimmune diseases, are still unclear. Here we performed a nationwide survey of AGS patients in Japan and analysed the genetic and clinical data.Methods. Patients were recruited via questionnaires sent to paediatric or adult neurologists in Japanese hospitals and institutions. Genetic analysis was performed and clinical data were collected.Results. Fourteen AGS patients were identified from 13 families; 10 harboured genetic mutations. Three patients harboured dominant-type TREX1 mutations. These included two de novo cases: one caused by a novel heterozygous p.His195Tyr mutation and the other by a novel somatic mosaicism resulting in a p.Asp200Asn mutation. Chilblain lesions were observed in all patients harbouring dominant-type TREX1 mutations. All three patients harbouring SAMHD1 mutations were diagnosed with autoimmune diseases, two with SLE and one with SS. The latter is the first reported case.Conclusion. This study is the first to report a nationwide AGS survey, which identified more patients with sporadic AGS carrying de novo dominant-type TREX1 mutations than expected. There was a strong association between the dominant-type TREX1 mutations and chilblain lesions, and between SAMHD1 mutations and autoimmunity. These findings suggest that rheumatologists should pay attention to possible sporadic AGS cases presenting with neurological disorders and autoimmune manifestations. [ABSTRACT FROM AUTHOR]

T helper 17 (Th17) cells that produce interleukin (IL)-17A and IL-17F have been found to participate in the development of bronchial asthma and bleomycin-induced pulmonary fibrosis. However, whether they play a causative role in the airway remodeling observed in these respiratory diseases remains unclear. Because fibrocytes are involved in tissue repair and fibrosis and are presumably precursors of lung fibroblasts and myofibroblasts, we examined the effects of IL-17A/F on fibrocyte functions. Both IL-17A and IL-17F enhanced fibrocytes' α-smooth muscle actin expression. Priming fibrocytes with IL-17A enhanced their CD40-mediated IL-6 production, whereas IL-17F-priming increased the CD40-mediated mRNA expression of collagen I, vascular endothelial growth factor, and angiogenin. CD4 T cells co-cultured with fibrocytes produced IL-17A, which was inhibited by blocking CD40 and CD40 ligand interactions. These findings suggest that cooperative interactions between fibrocytes and Th17 cells play an important role via CD40- and IL-17A/F-mediated signaling for collagen and proangiogenic factor production, which may lead to the extracellular matrix deposition and neovascularization seen in airway remodeling. [ABSTRACT FROM AUTHOR]

Background Biotin plays an important role as a covalently bound coenzyme for carboxylases. Carnitine is essential in β-oxidation to transport long-chain fatty acids across the inner mitochondrial membrane. The present study was conducted to assess the risk of biotin and carnitine deficiencies in preterm infants who received enteral feeding with maternal milk and/or standard infant formula made in Japan. Methods Forty-six infants were enrolled in the study. Urine and serum samples and dried blood spots were collected at 1 week and 1 month of age. Additionally, samples were collected at 40 and 44 weeks post-menstrual age ( PMA) in preterm infants. Free carnitine and C5-OH acylcarnitine, which consist of 3-hydroxyisovalerylcarnitine as a major isomer, were measured in serum samples and dried blood spots using tandem mass spectrometry. Urine 3-hydroxyisovaleric acid (3- HIVA) was measured using gas chromatography/mass spectrometry. Results The free carnitine levels in preterm infants were significantly lower than those in term infants, but increased with PMA in serum samples and dried blood spots. C5-OH acylcarnitine and urinary 3- HIVA levels, which were very low in term infants, were increased with PMA in preterm infants. Conclusion The present results may indicate chronic biotin deficiency in preterm infants fed maternal milk and/or standard infant formula. Analyses of carnitine profiles of dried blood spots and urine 3- HIVA are relatively non-invasive and useful for the early detection of biotin deficiency in preterm infants. [ABSTRACT FROM AUTHOR]

Background: Allergen-specific immunotherapy has been anticipated to be a disease-modifying therapy for food allergies. We previously reported that CD8+ regulatory T cells may prevent antigen-sensitized mice from developing allergic diarrhea. Because oligomannose-coated liposomes ( OML) have been shown to induce MHC class I-restricted CD8+ T cell responses, we analyzed the adjuvant activities of OML for inducing regulatory CD8+ T cells and mucosal tolerogenic responses in allergen-sensitized mice. Methods: The BALB/c mice that were previously sensitized to ovalbumin ( OVA) were intranasally immunized with OVA-encased in OML ( OVA- OML) or OVA-encased in non-coated liposomes ( OVA- NL). We assessed allergic diarrhea induced by oral OVA administration, OVA-specific immunoglobulin production, and cytokine production in the intestines and mesenteric lymph nodes ( MLNs). Results: Intranasal immunization with OVA- OML, but not OVA- NL, suppressed the development of allergic diarrhea. This was associated with in vitro Ag-induced IL-10 production and the in vivo expansion of CD8+ CD28− and CD4+ CD25+ Foxp3+ T cell populations among mesenteric lymph node mononuclear cells, and was significantly ablated by anti- SIGNR1 or anti- CR3 m Abs. Up-regulation of serum OVA-specific Ig E was suppressed, whereas OVA-specific Ig G1, Ig G2a, and soluble Ig A production were enhanced by intranasal administration of OVA- OML. Adoptive transfer of CD8+ CD28− T cells but not CD28+ CD8+ T cells from the MLNs of OVA- OML-treated mice ameliorated the development of diarrhea. Conclusion: These results suggest that intranasal immunization with Ag-encased OML may be an effective immunotherapy for food allergies, as it induces a subset of regulatory CD8+ T cells as well as CD4+ CD25+ Foxp3+ T cell and modulates humoral immune responses in allergen-sensitized mice. [ABSTRACT FROM AUTHOR]

The article presents case study of female infant, exclusively breastfed from birth, experienced several episodes of urticaria within 1 h of ingesting CM and boiled egg during weaning. It mentions After commencement of dairy products, she complained of intermittent abdominal pains and presented with progressive diarrhea but no cutaneous or respiratory symptoms.

Growing evidence indicates that oxidative stress occurs during the fetal-to-neonatal transition. Such stress plays an important role in the pathogenesis of many neonatal diseases. Thioredoxin (TRX), a redox-regulating protein with antioxidant activity, is induced in various cells against oxidative stress and is secreted extracellularly. This study was undertaken to examine the clinical and biological importance of TRX in the perinatal setting. We measured concentrations of TRX in umbilical cord blood and breast milk using a sandwich ELISA. Our study demonstrated that concentrations of TRX in umbilical cord blood were six to seven times higher than those in blood of healthy adults. This study also showed that umbilical concentrations of TRX were correlated significantly with the extent of prematurity of the newborn, and that they were elevated significantly in newborns of mothers with preeclampsia compared to those of mothers without preeclampsia. In contrast, concentrations of coenzyme Q 10 and vitamin E in umbilical blood were lower than adult blood levels. Breast milk concentrations of TRX during the early postpartum period were seven to eight times higher than those in blood of lactating women. Those of the coenzyme Q 10 were lower than adult blood levels, while those of vitamin E were comparable to adult blood levels. Our findings suggest that the systemic release of TRX is enhanced at birth, and that early breast milk is a rich source of this protein. Consequent high levels of TRX in newborns may provide a unique protective mechanism that allows the maintenance of redox balance during the fetal-to-neonatal transition. [ABSTRACT FROM AUTHOR]

Chemokines have been implicated convincingly in the driving of leukocyte emigration in different inflammatory reactions. Multiple signaling mechanisms are reported to be involved in intracellular activation of chemokine expression in vascular endothelial cells by various stimuli. Nevertheless, redox-regulated mechanisms of chemokine expression in human dermal microvascular endothelial cells (HDMEC) remain unclear. This study examined the effects of pyrrolidine dithiocarbamate (PDTC, 0.1 mM) and spermine NONOate (Sper-NO, 1 mM) on the secretion and gene expression of chemokines, interleukin (IL)-8, monocyte chemotactic protein (MCP)-1, regulated upon activation normal T cell expressed and secreted (RANTES), and eotaxin. This study also addresses PDTC and Sper-NO effects on activation of nuclear factor kappa B (NF-κB) induced by TNF-α (10 ng/ml). Treatment with TNF-α for 8 h significantly increased secretion of IL-8, MCP-1, and RANTES, but not of eotaxin, in cultured HDMEC. Up-regulation of these chemokines was suppressed significantly by pretreatment with PDTC or Sper-NO for 1 h, but not by 1 mM 8-bromo-cyclic GMP. The mRNA accumulation of IL-8, MCP-1, RANTES, and eotaxin, and activation of NF-κB were induced by TNF-α for 2 h; all were suppressed significantly by the above two pretreatments. These findings indicate that both secretion and mRNA accumulation of IL-8, MCP-1, and RANTES in HDMEC induced by TNF-α are inhibited significantly by pretreatment with PDTC or Sper-NO, possibly via blocking redox-regulated NF-κB activation. These results suggest that restoration of the redox balance using antioxidant agents or nitric oxide pathway modulators may offer new opportunities for therapeutic interventions in inflammatory skin diseases. [ABSTRACT FROM AUTHOR]

Diagnosis of urinary infection in young children is often delayed, which may result in renal damage. However, it remains to be clarified how soon the treatment should be started to prevent renal changes. The present study prospectively enrolled young children with diagnosis of their first febrile urinary infection who underwent technetium-99m dimercaptosuccinate renal cortical scintigraphy within 120 h of initiation of treatment. Patients with abnormal renoscintigraphy received antibiotics for 2 weeks and scintigraphy was repeated 1 year later. Twenty-two children were enrolled from July 1995 through March 2000. Acute-phase renoscintigraphy identified focal defects in 0 of the 14 children who were treated within 24 h of the disease, 1 of the 3 treated in 24-48 h, and 2 of the 5 treated in 48-72 h. Repeat renoscintigraphy showed disappearance of the focal defects in all 3 children. The present study has shown that early treatment within 24 h of onset of the fever due to urinary infection should deter renal changes. Fever for more than 24 h prior to diagnosis indicates a high risk for renal changes and needs an immediate effective treatment to avoid renal damage. [ABSTRACT FROM AUTHOR]

Abstract Background : Almost all newborns have phimosis, which is known as one of the risk factors for urinary infection. The present study analyzed which specific prepuce conditions correlated with the development of febrile urinary infection in Japanese male infants. Methods : The subjects consisted of 100 children, 64 boys and 36 girls, with febrile urinary infection. Prepuces were classified by their retractability in the male patients and in 714 healthy boys. Results : Ninety-four percent of first febrile urinary infections occurred before 7 months of age in boys, whereas only 37% of the girls had first infections by that age. The prepuce covered the external urethral meatus in 96% of the healthy boys aged 3 years or less. A gentle retraction maneuver could not uncover the urethral meatus in approximately 40% of the boys aged 0-6 months. The frequency started to decline spontaneously after that age. Male patients aged 0-6 months significantly more often had tightly covered meatus than did healthy neonates (85%vs 42%, P < 0.0001). Conclusions : These findings indicate that it is specifically those boys whose external urethral meatus are tightly covered with foreskin who constitute the high-risk group for urinary infection. Awareness of this observation should help with diagnosing and managing urinary infection in young boys. [ABSTRACT FROM AUTHOR]

Abstract Background : For ambulatory pediatric outpatients, reports of abnormalities of bone metabolism associated with anti-epileptic drugs are inconsistent and may be difficult to interpret. Methods : The effects of long-term anti-epileptic therapy (mainly valproic acid and/or carbamazepine) on bone mineral status were evaluated in ambulatory epileptic patients (seven males and 11 females) aged 5.5-15.9 years. Bone mineral density (BMD) at the lumbar spine was measured by dual-energy X-ray absorptiometry and markers of bone and mineral metabolism were determined. Results : The mean BMD was decreased by 9% in our patients relative to the control, and five patients (all males) showed osteopenia, defined as BMD SD scores less than - 1.5. Serum levels of minerals, intact parathyroid hormone and 1α,25 (OH)2 vitamin D were within the normal ranges. In most patients, serum levels of intact osteocalcin, carboxyterminal propeptide of type I procollagen and pyridinoline cross-linked telopeptide of type I collagen were reduced relative to the corresponding mean control values. The BB genotype by Bsm I restriction fragment length polymorphism, associated with low BMD, was not found in our patients. The dietary calcium intake in the osteopenic patients was significantly lower than that of the non-osteopenic patients. Conclusions : Our results indicate that long-term anti-epileptic treatment induces a state of decreased bone turnover in children, resulting in osteopenia preferentially in males. The alterations may be due, at least in part, to direct effects of the drugs on bone cells; and that low calcium intake could be an aggravating factor for anti-epileptic-associated osteopenia. [ABSTRACT FROM AUTHOR]

Background: Since antigen-specific IgE and eosinophils are major inducing factors of allergic inflammation of the airways, both factors are therapeutic targets of asthma. We investigated the effects of ONO-4007, a nontoxic lipid A analogue, on antigen-specific antibody response and the recruitment of eosinophils into airways in murine systems. Methods: BALB/c mice were injected ONO-4007 intraperitoneally during sensitization with ovalbumin (OVA) and aluminium hydroxide to determine its effects on the antigen-specific antibody response. ONO-4007 was also injected intravenously during either systemic sensitization and inhalation with OVA, or sensitization or inhalation alone to determine its effects on antigen-induced airway inflammation. In vitro effects of ONO-4007 on the functional differentiation of naive CD4[sup +] T cells were investigated by culturing naive CD4[sup +] T cells derived from DO11.10 mice and OVA-pulsed dendritic cells (CDCs) with ONO-4007. Results: ONO-4007 inhibited antigen-specific IgE and IgG[sub 1] , but not IgG[sub 2a] responses. ONO-4007 decreased the recruitment of eosinophils and the levels of IL-5 in bronchoalveolar lavage fluid, not only when it was injected during systemic sensitization and inhalation with OVA, but also during inhalation alone. ONO-4007 inhibited the differentiation of IL-4- and IL-13-producing CD4[sup +] T cells in vitro, which was partly mediated by DCs. Conclusions: ONO-4007 inhibited antigen-specific IgE and IgG[sub 1] responses and antigen-induced eosinophil recruitment into the airways in BALB/c mice. These effects were mediated, at least partly, by the modulation of DCs, although there may also be other mechanisms.Copyright © 2002 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Discusses a study that investigated the effect of growth hormone-releasing factor on the synthesis of thioredoxin (TRX) in rat anterior pituitary cell and the regulatory role of TRX in growth hormone secretion from these cells. Materials and methods; Results; Discussion.

Backtround: There is little information on the significance of angiotensin-converting enzyme (ACE) genotypes and medical treatments in children with primary focal segmental glomerulosclerosis (FSGS). Methods: A multicenter retrospective study was performed on the role of ACE genotypes and medical treatments in 43 Japanese children with FSGS (20 males and 23 females), including 17 children who progressed to end-stage renal failure during the mean observation period of 6.9 ± (SD) 5.0 years. Results: The incidence of the D allele of the ACE gene was higher in the whole group of 43 children with FSGS and in a subgroup of 28 steroid-resistant FSGS children (p < 0.05) than in the 130 children of the healthy control group (0.48, 0.48, and 0.33, respectively). ACE genotypes did not affect renal survival in the whole FSGS group nor in the steroid-resistant subgroup. Among the 28 steroid-resistant children, treatment with ciclosporin was effective in delaying the development of end-stage renal failure (p = 0.044), independently of other treatment regimens. Conclusion: The present study of Japanese children with FSGS showed that the D allele of the ACE gene is associated with the development of FSGS, but not associated with the progression of FSGS which was greatly ameliorated with ciclosporin, irrespective of ACE genotypes.Copyright © 2001 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Diffuse neonatal hemangiomatosis ( DNH) is a rare condition characterized by the concomitant development of multiple cutaneous infantile hemangiomas ( IH) and visceral hemangiomas. Recently, an association between erythropoietin treatment and an increased incidence of infantile hemangioma was noted. A Japanese male infant was born via cesarean section at 27 weeks of gestation. Following the commencement of erythropoietin treatment for anemia of prematurity, he developed multiple cutaneous hemangiomas, high cardiac output heart failure and hepatomegaly. Abdominal imaging indicated comorbidity of diffuse infantile hepatic hemanigomas, resulting in the final diagnosis of DNH. The discontinuation of erythropoietin treatment and long-term therapy with propranolol improved the hepatic lesions and cutaneous hemangiomas. The possibility of multiple organ involvement and the exacerbating effects of erythropoietin treatment should be considered in cases in which multiple cutaneous hemangiomas develop in preterm infants receiving erythropoietin treatment. [ABSTRACT FROM AUTHOR]

Unlabelled: In order to clarify the clinical significance of serum interleukin 4 (IL-4) levels, we measured serum IL-4 concentrations in allergic and non-allergic children using a highly sensitive sandwich ELISA. The limit of detection of the assay was 0.15 pg/ml in serum samples. Serum IL-4 was detected in 96.3% (53/55) of non-allergic controls, in 92.9% (183/197) of allergic children, in 70% (7/10) of cord blood samples and in 86.7% (26/30) of neonates. The IL-4 levels in sera from non-allergic controls were relatively constant during the ages examined and all samples were under 1.5 pg/ml. In allergic children, the serum levels of IL-4 were significantly elevated, particularly at age 13-24 months. The serum levels of IL-4 did not differ in children with different clinical manifestations of allergy, such as bronchial asthma, and atopic dermatitis. The serum level of soluble CD23 (sCD23) showed an age-dependent change in allergic and non-allergic children and was significantly higher in allergic than in non-allergic infants aged 7 to 12 months, but not in other age groups. There was no significant correlation among serum levels of IL-4, sCD23 and IgE.Conclusion: It is suggested that the measurement of serum IL-4 and sCD23 is helpful in the examination of allergic patients in infancy and early childhood, but neither the serum level of IL-4 nor sCD23 directly reflects in vivo IgE production. [ABSTRACT FROM AUTHOR]

Amino acid formulas and hydrolyzed formulas given to infants in Japan with milk allergies theoretically contain little, if any, biotin and carnitine. We assessed biotin and carnitine insufficiency in six infants with milk allergy who were fed amino acid formulas and/or hydrolyzed formulas, by measuring urine 3-hydroxyisovaleric acid (3- HIA) and serum free carnitine ( C0), respectively. All patients presented with elevated urine 3- HIA and lowered serum C0 compared with post-menstrual age-matched infants who were fed breast milk or standard infant formulas. Supplementation with biotin and l-carnitine immediately improved the insufficiency. Care should be taken to avoid biotin and carnitine deficiency in allergic infants fed amino acid or hydrolyzed formulas. [ABSTRACT FROM AUTHOR]

Described herein is the case of an 8-month-old girl with atypical food protein-induced enterocolitis syndrome due to rice. She presented with vomiting and poor general activity 2 h after ingestion of boiled rice. Oral food challenge test using high-pressure retort-processed rice was negative, but re-exposure to boiled rice elicited gastrointestinal symptoms. On western blot analysis the patient's serum was found to contain IgE bound to crude protein extracts from rice seed or boiled rice, but not from retort-processed rice. The major protein bands were not detected in the electrophoresed gel of retort-processed rice extracts, suggesting decomposition by high-temperature and high-pressure processing. Oral food challenge for diagnosing rice allergy should be performed with boiled rice to avoid a false negative. Additionally, some patients with rice allergy might be able to ingest retort-processed rice as a substitute for boiled rice. [ABSTRACT FROM AUTHOR]

We report on a 4-year-old boy who developed paroxysmal cold hemoglobinuria ( PCH) following the first dose of a seven-valent pneumococcal conjugate vaccine. He was admitted because of dark urine after exposure to cold air. Laboratory tests indicated anemia, increased serum indirect bilirubin and lactate dehydrogenase, and decreased serum haptoglobin. Donath- Landsteiner ( D-L) test was positive. The D-L antibody belonged to the IgM class and exhibited anti- P specificity. Symptoms and signs subsided after supportive care without any medication. Although PCH is often associated with viral or bacterial infection and is caused by IgG-class D-L antibodies with anti- P specificity, this case was unique because a D-L antibody of the IgM class with anti- P specificity caused PCH after immunization with a pneumococcal vaccine. [ABSTRACT FROM AUTHOR]

Letter to the editor is presented for the case with variable neurological symptoms in a family with Aicardi-Goutieres syndrome (AGS)/familial chilblain lupus (FCL) which is caused by heterozygous TREX1p.Asp18Asn mutation. AGS is the overproduction of type I IFN which is caused by unprocessed DNA due to reduced TREX1 enzymatic activity. AGS patients have a lower rate of chilblains than those with p.Asp18Asn mutation. It is important that neurological complications in FCL are carefully evaluated.

Aim: The purpose of this study was to evaluate the association between the methylenetetrahydrofolate reductase (MTHFR) C/T polymorphism and the prevalence and course of focal segmental glomerulosclerosis (FSGS) in our pediatric population. Methods: Genotypes for MTHFR were determined in 15 primary FSGS patients (male/female, 6/9) and 238 control subjects (male/female, 110/128) by the polymerase chain reaction and restriction fragment length polymorphism method. Results: For the whole group, the genotype frequencies (CC/CT/TT) of MTHFR in FSGS and control subjects were almost comparable. The TT genotype was associated with early onset of the disease as compared with the CC genotype. Furthermore, all the patients with the TT genotype had steroid-resistant FSGS and developed into end-stage renal failure, while those carrying either CC or CT genotype did not. Conclusion: We speculate that the TT genotype may be associated with early development and progression of childhood FSGS. Confirmatory studies using larger and ethnically distinct populations are needed to reveal the role of homocysteine in FSGS with consideration of medical interventions.Copyright © 2002 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Presents the clinical discourse of two patients with anaphylactic symptoms induced by a chloral hydrate suppository, which contained gelatin, used for sedation before an electroencephalography. Acquisition and mechanism of gelatin allergy; Medical background of the patients; Characteristics common to the patients.

Seven patients who had an initial attack of nephrotic syndrome in childhood and had frequent relapses even after cyclophosphamide therapy were given a 2-year course of azathioprine. The mean annual relapse rates decreased from 2.4±0.5 in the year preceding azathioprine to 0.4±0.8 in the 1st and 2nd years after its initiation. All six patients who were observed for more than 6 months after discontinuation of the therapy were relapse free for this period. Average doses of prednisolone could also be decreased in the 2nd and subsequent years after the therapy. There were no significant toxic effects. Long-term azathioprine therapy may be well tolerated and effective for nephrotic patients with frequent relapses. [ABSTRACT FROM AUTHOR]

Food protein-induced enterocolitis (FPIE) is a severe, cell-mediated gastrointestinal food hypersensitivity typically provoked by cow's milk [Joint Task Force of AAAAI and ACAAI Food allergy: a practice parameter. XVII. Differential diagnosis of adverse reaction to foods. Ann Allergy Asthma Immunol 96(3 Suppl 2):S40-S44 (2006)]. We present an infant who developed FPIE associated with enterotoxigenic E. coli (ETEC) and methicillin-resistant Staphylococcus aureus (MRSA) infections. The case suggests that enteral infection may have a role in the development of sensitization to food protein and the pathogenesis of FPIE. [ABSTRACT FROM AUTHOR]

Presents a case report of a pediatric patient with neonatal suppurative parotitis possibly associated with congenital cytomegalovirus infection and maternal methyldopa administration. Medical history of the patient; Signs and symptoms manifested; Discussion of the condition.

Reports a salivary-type hyperamylasemia in an asthmatic boy who received an overdose of aminophylline infusions and subsequent inhalation of Β1-agonist. Details of the medical history of the patient; Conditions under which salivary-type of hyperamylasemia is observed.

Rapid perfusion of oxygen in infants at birth may increase oxidative stress which has been incriminated in serious diseases including neonatal respiratory distress syndrome, chronic lung disease, and retinopathy of prematurity. Elucidating the antioxidant defense systems of neonates in clinical practice is important. Coenzyme Q10 is a widely distributed, redox-active quinoid compound originally discovered as an essential part of the mitochondrial respiratory chain in mammals. Although coenzyme Q10 is a powerful lipid antioxidant in vivo, few data pertain to plasma CoQ10 levels in infants. This is the first paper to report plasma coenzyme Q10 levels in preterm infants. [ABSTRACT FROM AUTHOR]