Discordant endocrinopathy in a sibling with shwachman-diamond syndrome.
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Adolescent↗
Biomedical subjects
Hisashi Kawashima
Publications and source records attributed to Hisashi Kawashima.
Combined treatment of steroids and cyclosporine in Kimura disease.
Kimura disease is a rare but distinctive chronic eosinophilic inflammatory disorder that is characterized by tumor-like lesions in the soft tissue and lymph nodes of the head and neck or parotid gland. Recently, many immunopathogenetic features of underlying T lymphocytes and related cytokines have been noted in Kimura disease. However, few previous studies have investigated the serial levels of cytokines in children. In this report we describe an 11-year-old Japanese boy with relapsing Kimura disease. Before the diagnosis of Kimura disease, the patient had a swelling on his left neck. Steroids were effective, but the tumor relapsed within a few months as the steroids were tapered. He was treated with steroids and cyclosporine. This treatment was done by measuring serial levels of serum soluble interleukin-2 receptor, interleukin-4, interleukin-5, and eosinophil cationic protein. These results suggest the activation of T-helper cells and T-helper 2 cytokines, that after activated B cells and eosinophilic infiltration play an important role in Kimura disease, and that cyclosporine suppresses the activity of this disease.
Angiolymphoid Hyperplasia with Eosinophilia↗
Diagnostic and predictive value of CSF d-ROM level in influenza virus-associated encephalopathy.
The aim of this study was to assess the validity of serum and CSF oxidative status of patients with IE in their initial stage through the d-ROM (Diacron-Reactive Oxygen Metabolites, Italy) test, compared to those with other neurological diseases. The study was conducted on the following four groups: (1) influenza virus-associated encephalopathy (IE, n = 8), including four patients showing neurological sequelae or mortal; (2) influenza virus-associated febrile seizures (IFS, n = 11); (3) febrile convulsion (FC, n = 10): (4) enterovirus-associated encephalopathy (EE, n = 4), including one patient with neurological sequelae. The CSF d-ROM levels in the IE group were significantly higher than those in the IFS and the FC groups but not in the EE group. In addition, general laboratory findings such as leukocytes, platelets, C-reactive protein, aspartate aminotransferase, creatinine, creatinine kinase and LDH, including interleukin-6 (IL-6), were analyzed in each group. The CSF d-ROM levels in the IE group were significantly higher than those in the IFS and FC groups but not in the EE group. As for the serum d-ROM levels and general laboratory findings, with the exception of CSF IL-6 levels in IE, no significant differences were detected compared with the other groups. In patients with IE, the CSF d-ROM levels could be a valid predictive biomarker of the severity, and oxidative stress may be related to the pathogenesis of IE.
Biomarkers↗
Primary biomarkers in cerebral spinal fluid obtained from patients with influenza-associated encephalopathy analyzed by metabolomics.
In order to search for the specific biomarkers of patients with influenza-associated encephalopathy this article analyzed all metabolites in cerebrospinal fluid (CSF) by using metabolome analysis. In all metabolites, the peaks of two molecular weights, 246.0092 and 204.0611, were significantly higher than those in other diseases including influenza without convulsion (p < .05). The peak of a molecular weight 228.0247 in all of the patients except one was less than that in other patients. These results indicate that the new metabolites detected in CSF would be primary markers for the diagnosis of influenza-associated encephalopathy.
Biomarkers↗
Therapy of childhood generalized morphea: case reports and reviews of the literature of Japanese cases.
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Child↗
Clinical and genetic analyses of presumed Shwachman-Diamond syndrome in Japan.
Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, and skeletal abnormalities. SBDS was identified as a causative gene for SDS in 2003, and genetic analyses of SDS have been performed. We performed genetic analysis of 13 Japanese patients with presumed SDS and found that 10 of them had SBDS mutations. Most patients had recurrent mutations (181-184TA-->CT and 258+2T-->C); however, 2 patients had unique mutations (259-1G-->A and 428C-->G). Although genetic analysis is useful for definitive diagnosis and for genetic counseling of SDS patients and families, SDS appears to be a genetically heterogeneous disorder. In addition, presumed SDS patients without SBDS mutations may be included in other disorders.
Abnormalities, Multiple↗
Diagnosis and evaluation of febrile infants under 4 months of age in Japan by using RT-PCR for enterovirus.
OBJECTIVES AND METHODS: In order to establish an effective management for febrile infants under 4 months of age we analysed the causes of fever by using bacterial work up and a highly sensitive RT-PCR method during a 3-year-period. From February 1998 to January 2001, 263 infants under 4 months of age were admitted to our hospital because of fever (>38.0 degrees C) and enrolled in this study. RESULTS: Eighty-nine cases (33.8%) were diagnosed as lower respiratory infections, and 62 (23.5%) as urinary tract infections. Aseptic meningitis was found in 35 cases (13.2%) and fever of unknown origin in 22 (8.3%). Sepsis and purulent meningitis were found in three and two infants, respectively. Aseptic meningitis was the most common disease in infants below 30 days. Aseptic meningitis and fever of unknown origin revealed no seasonable tendency. Twelve cases out of 20 tested infants with aseptic meningitis showed positive results for enterovirus in CSF. CONCLUSION: Clinicians should consider age, sex and seasons when evaluating and treating infants with fever. Previously lumbar puncture, urinalysis and chest X-ray were recommended to avoid useless assays. These results also revealed that RT-PCR is a useful and significant assay to establish an exact diagnosis in very young infants.
Bacterial Infections↗
A case of Reye syndrome with rotavirus infection accompanied with high cytokines.
We report on a 23-month-old boy with a rare complication of rotavirus gastroenteritis. He was diagnosed as acute encephalopathy with DIC accompanied with high levels of cytokines. The liver pathology also revealed mild infiltration and fatty changes. He was suspected to be suffering from a cytokine storm followed by Reye syndrome.
Anticonvulsants↗
Nitrite/nitrate (NOx) and zinc concentrations in influenza-associated encephalopathy in children with different sequela.
NOx (NO2 and NO3) in CSF obtained from 22 patients with influenza-associated encephalopathy were higher than those of a control group. Within the different prognosis, there were no significant differences in NOx levels. By analyzing the serum obtained from patients infected with influenza, including encephalopathy, with others, the serum zinc levels did show marked differences between them. Four out of eleven patients with influenza-associated encephalopathy showed low zinc levels below the normal range. However, there were no significant differences in the zinc levels between the group with sequela and without sequela. These results indicate that the increase of NOx levels detected in influenza-associated encephalopathy relates to the low zinc levels, and both low molecules might play an important role for the cause of encephalopathy.
Brain Damage, Chronic↗
Efficacy of plasma exchange and methylprednisolone pulse therapy on influenza-associated encephalopathy.
Patients with a new type of influenza-associated encephalopathy with high mortality are increasing in Japan and the United States. We present three patients treated with methyprednisolone pulse treatment and plasma exchange to remove cytokines, and all three patients recovered without severe sequela. IL-6 decreased dramatically after the start of the plasma exchange and methyprednisolone. Therefore when influenza-associated encephalopathy is actually diagnosed, steroid pulse therapy should be started at an early stage, and when signs of DIC and/or MOF appear, plasma exchange is recommended to remove the cytokines and NOx.
Brain Diseases↗
Beta-catenin interacts with the FUS proto-oncogene product and regulates pre-mRNA splicing.
BACKGROUND & AIMS: beta-Catenin is a downstream effector of the Wnt signaling pathway and is believed to exert its oncogenic function by activating T-cell factor (TCF)/lymphoid enhancer factor (LEF) family transcriptional factors. However, it is still uncertain whether the diverse effects of beta-catenin are caused solely by aberrant gene transactivation. In this study, we used a proteomics approach to obtain further insight into the functional properties of nuclear beta-catenin. METHODS: The protein assembly of a native beta-catenin-containing complex in nuclear extracts from a colorectal cancer cell line, DLD-1, was identified using immunoprecipitation and mass spectrometry. RESULTS: beta-Catenin physically interacted with fusion (FUS)/translocated in liposarcoma (TLS) and various RNA-binding proteins. The expression of FUS/TLS was closely associated with the accumulation of beta-catenin and with the undifferentiated status of intestinal epithelial cells. The transient transfection of FUS suppressed beta-catenin-evoked gene transactivation of TCF/LEF, and beta-catenin transfection affected the splicing pattern of the E1A minigene and induced a novel splicing variant of estrogen receptor (ER)-beta exerting a dominant-negative activity. CONCLUSIONS: Human cancer expresses a large variety of alternatively spliced messenger RNA (mRNA), but the precise molecular mechanisms responsible for cancer-related alternative splicing are largely unknown. In this study, we demonstrated the interaction of beta-catenin with FUS/TLS and other RNA-binding proteins involved in the regulation of pre-mRNA splicing. Certain mRNA splicing abbreviations seen in human cancers may be induced by the activation of the Wnt signaling pathway.
Alternative Splicing↗
Clinical application of rapid assay of interleukin-6 in influenza-associated encephalopathy.
The characteristics of influenza-associated encephalopathy is the high mortality and nimble progress with coma which appears in general cases within 48 hours. Most of patients show no abnormalities in the standard blood checks on admission or in early stage. In this study we investigated if a rapid assay of interleukin (IL)-6 is useful in influenza-associated encephalopathy in early stages. The levels of IL-6 in patients with influenza-associated encephalopathy did not show any significant difference compared with those in patients with febrile convulsion and rotavirus-associated convulsion. However the levels of IL-6 in severe cases were significantly higher than those of mild cases with influenza-associated encephalopathy. Consequently the rapid assay of serum IL-6 is useful to evaluate and decide the therapies.
Biomarkers↗
Serum and cerebrospinal fluid nitrite/nitrate levels in patients with rotavirus gastroenteritis induced convulsion.
Nitric oxide (NO) is a highly reactive free radical that is involved in a variety of different biological process. In recent reports, the putative role of NO in the neuropathogenesis of brain inflammation has been demonstrated. And then the relation between neuronal NO and convulsive seizures induced by virus has been suggested. However, there are few reports about NO in vivo under viral neurological infections. In order to evaluate the relation between NO production and neurological disorders induced by viral infection, sixty-six cases including 11 patients with rotavirus gastroenteritis admitted for convulsions were examined in this study. NO metabolites (NOx) levels in both serum and cerebrospinal fluid obtained from rotavirus gastroenteritis patients with convulsion were much higher than in those of patients with purulent meningitis, encephalitis, febrile convulsion or in the control group. There was a relative correlation between IL-6 and NOx in some cases. These results indicated that NO may have a pathophysiological role in convulsions associated by rotavirus infection either through indirect or direct effects of NO. Consequently, NOx inhibitors might be helpful for the treatment of rotavirus encephalopathy.
Child, Preschool↗
Virological and immunological characteristics of a 19-year-old Japanese female with fatal outcome with Epstein-Barr virus-associated hemophagocytic syndrome.
Hemophagocytic syndrome (HPS) is caused by the hyperactivation of T-cells and macrophages. The clinical characteristics associated with this disease result from overproduction of cytokines including interferon-gamma (INF-gamma), tumor necrosis factor-alpha (TNF-alpha), interleukin-6 (IL-6). HPS presents with fever, liver dysfunction, coagulation abnormalities, pancytopenia, and a benign histiocytic proliferation with prominent hemophagocytosis in bone marrow, lymph node, spleen, and liver. We describe a 19-year-old female with fatal HPS. She had been given corticosteroid every other day for systemic lupus erythematosus (SLE) without flare up. The causative underlying disease was acute primary Epstein-Barr virus (EBV) infection. EBV genomes were detected by the polymerase chain reaction (PCR). To measure the virus load we use a real-time PCR assay to quantify the amount of EBV DNA in peripheral blood lymphocytes, lung, kidney, brain and liver at autopsy. Further in situ hybridisation (ISH) and immunohistochemical studies demonstrated that Epstein-Barr virus encoded small RNA (EBER) was detected in CD8+ T-cells in bone marrow, lung, kidney, brain, liver and spleen. In each organ, mRNA levels of inflammatory cytokines (INF-gamma, TNF-alpha, IL-6) were highly detected compared with beta-Actin mRNA levels. These results suggest that EBV-infected CD8+ T-cells in each organ (peripheral blood lymphocytes, lung, kidney, brain and liver) may have an integral role in the pathophysiology of the HPS.
Adult↗
Sudden infant death syndrome due to parainfluenza virus 2 associated with hemophagocytic syndrome.
We report a child with Sudden Infant Death Syndrome (SIDS), aged 16 months. The histological findings of tonsils, spleen, and bone marrow revealed many hemophagocytic cells. Parainfluenza virus type 2 (PIV2) was cultured in the nasopharynx and detected by reverse-transcription (RT)-PCR in liver tissue and bone marrow. His laboratory data of elevated level of ferritin and IL-6 suggested hemophagocytic syndrome (HPS). It is suspected that PIV2 infection in infants is a risk factor for SIDS.
Histiocytosis, Non-Langerhans-Cell↗
Enterovirus-related type 1 diabetes mellitus and antibodies to glutamic acid decarboxylase in Japan.
OBJECTIVES: In order to clarify the relationship between enteroviruses and type 1 diabetes mellitus in Japan we investigated enteroviral RNA in serum from children with type 1 diabetes mellitus. METHODS: We investigated enteroviral RNA in serum from children with type 1 diabetes mellitus by using highly sensitive RT-PCR. Additionally the sequences and viral loads were determined and compared with anti-coxsackie virus antibodies and anti-glutamic acid decarboxylase (GAD) antibodies. RESULTS: RT-PCR for enterovirus was positive in 23 (37.7%) from 61 samples. The positivity had no disparity of age, but decreased by aging after the occurrence of type 1 diabetes mellitus. The sequences of the positives were similar as those of coxsackie B4. The viral loads revealed that there was no positive patient with high titers of anti-GAD antibodies. CONCLUSION: In Japan there is some correlation with type 1 diabetes mellitus and enterovirus. The pathophysiology of type 1 diabetes mellitus seems to consist of a direct destruction by persistent coxsackie virus and the autoimmune mechanism through autoantibodies against beta-cells.
Adolescent↗
A case report of Kabuki make-up syndrome with cytomegalovirus infection.
An 8-month-male infant was admitted to our institute in order to investigate his developmental delay. He had facial features-long palpebral fissures with eversion of the lower lateral eyelids, arched eyebrows with lateral sparseness, depressed nasal tip, large, prominent and cupped ears. From these characteristical features, he was diagnosed as having Kabuki make-up syndrome (KS). When he was 2 months old, he was admitted to our institute because of intractable stridor and liver dysfunction associated with cytomegalovirus (CMV) infection. In KS, increased susceptibility to infection is described. We suspected persistent CMV infection because of an increased susceptibility to infection in KS. Recently acute idiopathic thrombocytopenic purpura (ITP) was diagnosed. According to the correlation between the number of CMV DNA copies and his platelet count, it is speculated that ITP would occur when the number of CMV DNA copies was elevated.
Abnormalities, Multiple↗
Extraordinary changes in excitatory amino acid levels in cerebrospinal fluid of influenza-associated encephalopathy of children.
The correlation between the glutamate-glutamine cycle and nitric oxide (NO) production in the central nervous system (CNS) of a new type of influenza-associated encephalopathy in children is discussed. When measurements of several amino acids and NOx (nitrite/nitrate) levels in the cerebrospinal fluid (CSF) using HPLC-fluorescence and -UV methods, respectively, were made. the CSF glutamate levels of patients with the new type of encephalitis were significantly lower, and both glutamine and NOx levels were significantly higher than those of the control group and the patients of the meningitis group. Results indicate that the turnover rate of glutamate in CNS, particularly in the brain, increases in the influenza-associated encephalopathy. The high mortality in the disease may correlate with the hyperactivity of supra-spinal glutamate neurons and the subsequent high activity levels of NOx in CNS.
Brain Diseases↗