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1.
BMC Infect Dis ; 21(1): 531, 2021 Jun 05.
Artigo em Inglês | MEDLINE | ID: mdl-34090359

RESUMO

BACKGROUND: Group B Streptococcus (GBS) is an important cause of invasive infection in neonates and infants. Cerebrospinal fluid (CSF) findings and culture may not show evidence of infection early in GBS meningitis. Next-generation sequencing (NGS) has the potential to detect microbial genetic material in patients with infectious diseases. We report two cases of infantile sepsis of GBS meningitis with negative results for CSF culture tests, but positive results for NGS analysis. CASE PRESENTATION: Patient 1 was a 22-day-old male infant diagnosed with sepsis and meningitis. His CSF findings showed pleocytosis, decreased glucose, and increased protein levels. However, CSF and blood culture results at admission were negative. He received a total of 3 weeks of treatment with ampicillin and cefotaxime, and showed clinical improvement. GBS was detected through NGS analysis of CSF collected at admission. Patient 2 was a 51-day-old male infant with sepsis. CSF findings on admission were normal, and blood and CSF cultures were also negative. Intravenous ampicillin and cefotaxime treatment were initiated. Treatment was de-escalated to ampicillin alone because Enterococcus faecalis was cultured from urine. He was discharged after a total of 1 week of antibiotic treatment. Six days after discharge, he was re-hospitalized for sepsis. Blood and CSF cultures were negative, and E. faecalis was again cultured from urine. He received a total of 3 weeks of ampicillin treatment for enterococcal-induced nephritis and did not relapse thereafter. NGS pathogen searches were retrospectively performed on both blood and CSF collected at the first and second admission. GBS was detected in the CSF collected at the first admission, but no significant pathogen was detected in the other samples. Inadequate treatment for GBS meningitis at the first admission may have caused the recurrence of the disease. CONCLUSION: Infantile sepsis may present bacterial meningitis that is not diagnosed by either culture testing or CSF findings. NGS analysis for CSF may be useful for confirming the diagnosis of bacterial meningitis.


Assuntos
Antibacterianos/uso terapêutico , Meningites Bacterianas/diagnóstico , Meningites Bacterianas/tratamento farmacológico , Infecções Estreptocócicas/diagnóstico , Infecções Estreptocócicas/tratamento farmacológico , Ampicilina/uso terapêutico , Cefotaxima/uso terapêutico , Líquido Cefalorraquidiano/microbiologia , Enterococcus faecalis/efeitos dos fármacos , Enterococcus faecalis/isolamento & purificação , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lactente , Recém-Nascido , Masculino , Meningites Bacterianas/microbiologia , Estudos Retrospectivos , Sepse/diagnóstico , Sepse/tratamento farmacológico , Sepse/microbiologia , Streptococcus agalactiae/efeitos dos fármacos , Streptococcus agalactiae/genética , Streptococcus agalactiae/isolamento & purificação , Urina/microbiologia
2.
J Gastroenterol Hepatol ; 33(1): 264-269, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28452067

RESUMO

BACKGROUND AND AIM: Few studies of zinc monotherapy for presymptomatic Wilson disease have focused on young children. We therefore evaluated long-term efficacy and safety of zinc monotherapy for such children and established benchmarks for maintenance therapy. METHODS: We retrospectively and prospectively examined children under 10 years old with presymptomatic Wilson disease who received zinc monotherapy from time of diagnosis at 12 participating pediatric centers in Japan. RESULTS: Twenty-four patients met entry criteria. Aspartate aminotransferase and alanine aminotransferase decreased significantly beginning 1 month after initiation of treatment and usually remained under 50 U/L from 1 to 8 years of treatment. Twenty four-hour urinary copper decreased significantly at 6 months and usually remained under 75 µg/day and between 1 and 3 µg/kg/day for the remainder of the study. All patients continued to take zinc, and none became symptomatic. In patients under 6 years old who received 50 mg/day of zinc as an initial dose, aspartate aminotransferase and alanine aminotransferase significantly decreased at 1 month after initiation of treatment, as did γ-glutamyltransferase and 24-h urinary copper at 6 months. CONCLUSIONS: To our knowledge, this is the first multicenter study of zinc monotherapy for young children with presymptomatic Wilson disease. Such monotherapy proved highly effective and safe. Maintaining normal transaminase values (or values under 50 U/L when normalization is difficult) and 24-h urinary copper excretion between 1 and 3 µg/kg/day and under 75 µg/day is a reasonable goal. An initial dose of 50 mg/day is appropriate for patients under 6 years old.


Assuntos
Degeneração Hepatolenticular/tratamento farmacológico , Zinco/administração & dosagem , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Japão , Masculino , Estudos Prospectivos , Estudos Retrospectivos , Fatores de Tempo , Resultado do Tratamento
3.
J Infect Chemother ; 24(12): 995-997, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30001843

RESUMO

Cytomegalovirus (CMV) is one of the major infectious etiologies that induce thrombocytopenia. Although immune thrombocytopenic purpura (ITP) in children is often preceded by viral infections, thrombocytopenia associated with active CMV infection is considered CMV-related thrombocytopenia (CMV-thrombocytopenia), which can be distinguished from ITP. CMV-thrombocytopenia is reported to be less responsive to standard therapies for ITP and may require antiviral therapies. We herein report a case of refractory CMV-thrombocytopenia that achieved complete remission without antiviral therapy. A 20-month-old boy presented with a 2-day history of fever and systemic petechiae. There were no abnormal findings except for an extremely low platelet count (8000/µl) on blood examinations. He was clinically diagnosed with ITP, and intravenous immunoglobulin was administered twice, but his platelet count did not increase. CMV infection was suspected serologically, and a high CMV DNA load was detected in serum by real-time quantitative polymerase chain reaction (PCR). Without antiviral treatment, the CMV DNA load decreased below the detection limit on the 11th day of admission, followed by complete remission of the thrombocytopenia. The present case suggests that spontaneous recovery of thrombocytopenia can be expected in immunocompetent patients with CMV-thrombocytopenia in whom decreased CMV DNA load is observed.


Assuntos
Infecções por Citomegalovirus/imunologia , Citomegalovirus/imunologia , DNA Viral/imunologia , Imunoglobulinas Intravenosas/administração & dosagem , Púrpura Trombocitopênica Idiopática/imunologia , Citomegalovirus/genética , Citomegalovirus/isolamento & purificação , Infecções por Citomegalovirus/sangue , Infecções por Citomegalovirus/diagnóstico , Infecções por Citomegalovirus/tratamento farmacológico , DNA Viral/sangue , DNA Viral/genética , Febre , Humanos , Imunocompetência/imunologia , Imunoglobulinas Intravenosas/uso terapêutico , Fatores Imunológicos/administração & dosagem , Fatores Imunológicos/uso terapêutico , Lactente , Masculino , Contagem de Plaquetas , Púrpura Trombocitopênica Idiopática/sangue , Púrpura Trombocitopênica Idiopática/diagnóstico , Púrpura Trombocitopênica Idiopática/tratamento farmacológico , Carga Viral/genética
4.
Pediatr Int ; 58(6): 518-520, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26900026

RESUMO

We encountered a 4 month outbreak of methicillin-resistant Staphylococcus aureus (MRSA) colonization or infection that was difficult to control despite implementation of standard prevention methods. A neonate with Netherton syndrome had accelerated scaling of the skin and continued positive results for MRSA from clinical samples. The results of air sampling suggested the possibility of airborne transmission. The MRSA outbreak stopped after the patient was transferred to an isolation room, suggesting that airborne MRSA can play a role in MRSA colonization. Isolation rooms should be considered in specific circumstances, as described in the present study.

5.
J Infect Chemother ; 21(12): 879-81, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26390826

RESUMO

A boy at 12 days of age developed neonatal herpes simplex virus (HSV) type 2 infection with central nervous system (CNS) disease. After a 21-day course of high-dose intravenous acyclovir, the patient recovered with negative results for HSV DNA in serum and cerebrospinal fluid. Two weeks after a 6-month course of oral valacyclovir suppressive therapy with negative virological assessment, the disease recurred. Another 21-day course of intravenous acyclovir and subsequent 1-year course of oral suppressive therapy were completed. He showed mild developmental delay in language-social skills at 18 months of age. Although recurrences of neonatal HSV infection with CNS disease after suppressive therapy are uncommon, both clinical and virological assessments at the end of the suppressive therapy may be required. Administration of extended long-term suppressive ACV therapy should be considered to reduce the rate of recurrence.


Assuntos
Antivirais/uso terapêutico , Doenças do Sistema Nervoso Central/tratamento farmacológico , Herpes Genital/tratamento farmacológico , Herpes Simples/tratamento farmacológico , Complicações Infecciosas na Gravidez/tratamento farmacológico , Aciclovir/uso terapêutico , Herpesvirus Humano 2/efeitos dos fármacos , Humanos , Recém-Nascido , Masculino , Recidiva
6.
Am J Med Genet A ; 164A(5): 1180-7, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24664533

RESUMO

Mitochondrial trifunctional protein (MTP) is a hetero-octamer composed of four α- and four ß-subunits that catalyzes the final three steps of mitochondrial ß-oxidation of long chain fatty acids. HADHA and HADHB encode the α-subunit and the ß-subunit of MTP, respectively. To date, only two cases with MTP deficiency have been reported to be associated with hypoparathyroidism and peripheral polyneuropathy. Here, we report on two siblings with autosomal recessive infantile onset hypoparathyroidism, peripheral polyneuropathy, and rhabdomyolysis. Sequence analysis of HADHA and HADHB in both siblings shows that they were homozygous for a mutation in exon 14 of HADHB (c.1175C>T, [p.A392V]) and the parents were heterozygous for the mutation. Biochemical analysis revealed that the patients had MTP deficiency. Structural analysis indicated that the A392V mutation identified in this study and the N389D mutation previously reported to be associated with hypoparathyroidism are both located near the active site of MTP and affect the conformation of the ß-subunit. Thus, the present patients are the second and third cases of MTP deficiency associated with missense HADHB mutation and infantile onset hypoparathyroidism. Since MTP deficiency is a treatable disease, MTP deficiency should be considered when patients have hypoparathyroidism as the initial presenting feature in infancy.


Assuntos
Hipoparatireoidismo/congênito , Subunidade beta da Proteína Mitocondrial Trifuncional/genética , Mutação , Polineuropatias/diagnóstico , Polineuropatias/genética , Adolescente , Pré-Escolar , Consanguinidade , Análise Mutacional de DNA , Feminino , Humanos , Hipoparatireoidismo/diagnóstico , Hipoparatireoidismo/genética , Lactente , Masculino , Subunidade beta da Proteína Mitocondrial Trifuncional/química , Modelos Moleculares , Linhagem , Fenótipo , Conformação Proteica , Irmãos , Gêmeos Dizigóticos
7.
J Infect Chemother ; 20(1): 15-9, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24462418

RESUMO

Human parechovirus-3 (HPeV-3) has been associated with severe clinical manifestations in neonates and infants in the form of sepsis or hemophagocytic lymphohistiocytosis (HLH)-like illness. To clarify the clinical features of HPeV-3 infection, we compared clinical signs and laboratory findings among enteroviruses (EVs), HPeV-3, and other infections. Participants were 26 febrile infants in whom EVs (n = 20) or HPeV-3 (n = 6) were isolated from throat swab or fecal specimens. Clinical and laboratory data were compared among EVs, HPeV-3, respiratory syncytial virus (RSV) infection (n = 15), and bacterial meningitis (n = 8) groups. Apnea was frequently seen in the HPeV-3 group although there were no significant differences in other clinical symptoms. Leukocyte count was significantly lower in the HPeV-3 group than in the EV and RSV group. Platelet count was significantly lower in the HPeV-3 group than in the RSV group. Serum ferritin levels in the HPeV-3 group (mean, 2437 ng/ml) and EV group (mean, 552 ng/ml) were significantly higher than in the RSV group (mean 237 ng/ml; P = 0.008 and P = 0.002, respectively). The frequency of patients with clearly high ferritin levels ≥1000 ng/ml was comparatively higher in the HPeV-3 group (4/6) than the EV group (3/20) (P = 0.03). In the HPeV-3 group, ferritin levels were high on Days 4-5. Elevated ferritin levels, decreased leukocyte and platelet counts could offer diagnostic clues to HPeV-3 infection in infant. These laboratory findings might be associated with aberrant immune response to HPeV-3, which could contribute to the development of sepsis or HLH-like illness in neonates.


Assuntos
Ferritinas/sangue , Distúrbios do Metabolismo do Ferro/sangue , Distúrbios do Metabolismo do Ferro/virologia , Parechovirus/isolamento & purificação , Infecções por Picornaviridae/sangue , Infecções por Picornaviridae/virologia , Apneia/sangue , Apneia/virologia , Enterovirus/isolamento & purificação , Infecções por Enterovirus/sangue , Infecções por Enterovirus/virologia , Fezes/virologia , Feminino , Humanos , Lactente , Recém-Nascido , Contagem de Leucócitos , Masculino , Contagem de Plaquetas
8.
Front Ophthalmol (Lausanne) ; 4: 1352962, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38984132

RESUMO

Purpose: The aim of this study was to present a case of severe visual loss due to retinal arteriovenous occlusion and papillitis in one eye following vaccination against coronavirus disease (COVID-19). Methods: A 45-year-old man undergoing treatment for hypertension had severely reduced visual acuity in the right eye 1 day after receiving a third dose of a COVID-19 vaccine manufactured by Moderna. Clinical examination showed that the best-corrected visual acuity in the right eye was counting fingers. Other findings included circumferential retinal hemorrhage, perimacular ischemic color, severe macular edema, and severe optic disc swelling, indicating the presence of central retinal vein occlusion, incomplete central retinal artery occlusion, and papillitis. Based on the possibility of post-vaccination inflammation and/or abnormal immune response, three courses of steroid pulse therapy were administered, and the visual acuity slightly improved to 20/1,000. Results: Three months after the onset of symptoms, macular edema disappeared; conversely, retinal thinning of the macula and extensive non-perfusion areas mainly on the nasal side were noted. Conclusion: The findings in this case suggest that inflammation and abnormal immune response after receiving a COVID-19 vaccination may lead to combined retinal arteriovenous occlusion and papillitis.

9.
Lancet ; 379(9826): 1613-20, 2012 Apr 28.
Artigo em Inglês | MEDLINE | ID: mdl-22405251

RESUMO

BACKGROUND: Evidence indicates that corticosteroid therapy might be beneficial for the primary treatment of severe Kawasaki disease. We assessed whether addition of prednisolone to intravenous immunoglobulin with aspirin would reduce the incidence of coronary artery abnormalities in patients with severe Kawasaki disease. METHODS: We did a multicentre, prospective, randomised, open-label, blinded-endpoints trial at 74 hospitals in Japan between Sept 29, 2008, and Dec 2, 2010. Patients with severe Kawasaki disease were randomly assigned by a minimisation method to receive either intravenous immunoglobulin (2 g/kg for 24 h and aspirin 30 mg/kg per day) or intravenous immunoglobulin plus prednisolone (the same intravenous immunoglobulin regimen as the intravenous immunoglobulin group plus prednisolone 2 mg/kg per day given over 15 days after concentrations of C-reactive protein normalised). Patients and treating physicians were unmasked to group allocation. The primary endpoint was incidence of coronary artery abnormalities during the study period. Analysis was by intention to treat. This trial is registered with the University Hospital Medical Information Network clinical trials registry, number UMIN000000940. FINDINGS: We randomly assigned 125 patients to the intravenous immunoglobulin plus prednisolone group and 123 to the intravenous immunoglobulin group. Incidence of coronary artery abnormalities was significantly lower in the intravenous immunoglobulin plus prednisolone group than in the intravenous immunoglobulin group during the study period (four patients [3%] vs 28 patients [23%]; risk difference 0·20, 95% CI 0·12-0·28, p<0·0001). Serious adverse events were similar between both groups: two patients had high total cholesterol and one neutropenia in the intravenous immunoglobulin plus prednisolone group, and one had high total cholesterol and another non-occlusive thrombus in the intravenous immunoglobulin group. INTERPRETATION: Addition of prednisolone to the standard regimen of intravenous immunoglobulin improves coronary artery outcomes in patients with severe Kawasaki disease in Japan. Further study of intensified primary treatment for this disease in a mixed ethnic population is warranted. FUNDING: Japanese Ministry of Health, Labour and Welfare.


Assuntos
Anti-Inflamatórios/uso terapêutico , Doença da Artéria Coronariana/prevenção & controle , Anomalias dos Vasos Coronários/prevenção & controle , Imunoglobulinas/uso terapêutico , Síndrome de Linfonodos Mucocutâneos/tratamento farmacológico , Prednisolona/uso terapêutico , Aspirina/uso terapêutico , Pré-Escolar , Quimioterapia Combinada , Feminino , Humanos , Lactente , Masculino , Estudos Prospectivos
10.
Endocr J ; 60(3): 299-304, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23197115

RESUMO

Pseudohypoaldosteronism type 1 (PHA1) is a rare condition characterized by neonatal salt loss with elevated plasma aldosterone and renin levels. Two types of PHA1 have been described: an autosomal recessive systemic form and an autosomal dominant renal form, in which the target organ defect is confined to the renal tubules. The dominant renal form of PHA1 is caused by heterozygous mutations in the NR3C2 gene, which encodes the mineralocorticoid receptor (MR). We determined clinical and biochemical parameters in two familial and four sporadic Japanese patient and analyzed the status of the NR3C2 gene. Failure to thrive was noted in five of the six patients. In one of the familial cases, the mother had an episode of failure to thrive when she was a toddler, but received no medical treatment. NaCl supplementation was discontinued in four of the six patients after they reached one year of age and they have grown normally thereafter. However, in one patient, 9 g/day of salt has been required to maintain serum Na concentration after 1 year of age. Analysis of NR3C2 identified three novel mutations [c. C1951T (p.R651X), c.304_305delGC (p.A102fsX103), c.del 603A (p.T201fsX34)] and one previously reported mutation [c.A2839G (p.947X)]. p.R651X was identified in one familial case and one unrelated sporadic patient. The patient who has been supplemented with large amount of salt was heterozygous for c.del 603A in exon 2. In conclusion, our study expands the spectrum of phenotypes, and characterized mutations of NR3C2 in the renal form of PHA1.


Assuntos
Túbulos Renais/fisiopatologia , Pseudo-Hipoaldosteronismo/genética , Pseudo-Hipoaldosteronismo/fisiopatologia , Aldosterona/sangue , Insuficiência de Crescimento/genética , Feminino , Heterozigoto , Humanos , Lactente , Recém-Nascido , Japão , Masculino , Mutação , Fenótipo , Pseudo-Hipoaldosteronismo/terapia , Receptores de Mineralocorticoides/genética , Renina/sangue , Cloreto de Sódio/administração & dosagem
11.
Brain Dev ; 45(4): 197-204, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36702664

RESUMO

BACKGROUND: As there have been no comprehensive reports of human metapneumovirus-associated encephalopathy (hMPVE), this study examined the clinical features of hMPVE in children in Japan. METHOD: A nationwide survey of children with hMPVE was conducted using a structured research form. An initial survey asked pediatricians about children with hMPVE treated between 2014 and 2018. A second survey obtained patient information from hospitals that responded to the initial survey and those identified as having treated cases from a literature search. We collected demographic data, symptoms of hMPV infection, neurological symptoms, laboratory data, treatment, and outcomes. Outcomes were determined using the Pediatric Cerebral Performance Category Score. RESULT: Clinical information was available for 16 children. Their median age was 37 months. Six had preexisting neurological disorders. The interval between the onsets of infection and hMPVE was 4 days. Outcomes were good in 11 patients and poor in 5. There were no significant differences in demographic data, neurological symptoms, or laboratory data between the patients with good and poor outcomes. The encephalopathy subtypes were acute encephalopathy with biphasic seizures and late reduced diffusion in 3, clinically mild encephalitis/encephalopathy with a reversible splenial lesion in 3, hemorrhagic shock and encephalopathy syndrome in 2, and others in 8. CONCLUSION: The outcomes of children with hMPVE were not very different from those of acute encephalopathy due to other viruses. We found no factors associated with poor outcomes.


Assuntos
Encefalopatias , Encefalite , Metapneumovirus , Criança , Humanos , Pré-Escolar , Japão/epidemiologia , Encefalopatias/epidemiologia , Encefalopatias/complicações , Encefalite/complicações , Encefalite/epidemiologia , Convulsões/complicações
12.
Case Rep Pediatr ; 2022: 4574640, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35047225

RESUMO

Human parvovirus B19 (PVB19) infection causes neurological manifestations, including encephalitis, meningitis, and neuropathy, but facial nerve palsy is rare. Moreover, no case of facial nerve palsy related to PVB19 infection that was diagnosed by PCR and serology has been reported. A 19-month-old boy without the medical history developed facial nerve palsy and was treated with prednisolone and valacyclovir. On the 19th day, erythema appeared on his body, and the PVB19-specific IgM and PVB19 DNA were detected in the serum, leading to the diagnosis of infectious erythema associated with PVB19 infection. This case indicates that PVB19 may be one of the causative agents of facial nerve palsy.

13.
Open Forum Infect Dis ; 9(10): ofac504, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36299531

RESUMO

Background: Infantile central nervous system infections (CNSIs) can be life-threatening and cause severe sequelae. However, the causative microorganism remains unknown in >40% of patients with aseptic infections. This study aimed to analyze the metagenome for detection of pathogens and the transcriptome for host immune responses during infection in a single cerebrospinal fluid (CSF) sample using 2 different next-generation sequencing (NGS) platforms, Nanopore and Illumina. Methods: Twenty-eight CNSIs patients (<12 months) were enrolled, and 49 clinical samples (28 CSF and 21 blood) were collected. The DNA extracted from all 49 samples was sequenced using the Illumina sequencer for the detection of pathogens. Extracted RNA was obtained in sufficient quantities from 23 CSF samples and subjected to sequencing on both Nanopore and Illumina platforms. Human-derived reads subtracted during pathogen detection were used for host transcriptomic analysis from both Nanopore and Illumina sequencing. Results: RNA metagenomic sequencing using both sequencing platforms revealed putative viral pathogens in 10 cases. DNA sequencing using the Illumina sequencer detected 2 pathogens. The results of Nanopore and Illumina RNA sequencing were consistent; however, the mapping coverage and depth to the detected pathogen genome of Nanopore RNA sequencing were greater than those of Illumina. Host transcriptomic analysis of Nanopore sequencing revealed highly expressed genes related to the antiviral roles of innate immunity from pathogen-identified cases. Conclusions: The use of Nanopore RNA sequencing for metagenomic diagnostics of CSF samples should help to elucidate both pathogens and host immune responses of CNSI and could shed light on the pathogenesis of these infections.

14.
Cytokine ; 56(2): 180-7, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-21862344

RESUMO

BACKGROUND: The 2009 A(H1N1) influenza virus has caused a large outbreak, and resulted in major complications of severe pneumonia and acute encephalopathy in the pediatric population in Japan. METHODS: This study examined six patients with acute encephalopathy, 34 patients with severe pneumonia, five patients with both pneumonia and encephalopathy, and 46 patients without severe complications. The concentrations of 27 cytokines were examined in the cerebrospinal fluid of patients with encephalopathy, and the levels of these cytokines, Cytochrome c, high-mobility group box 1 (HMGB1) were measured in the serum of all patients. RESULTS: Patients with severe pneumonia had higher serum concentrations of 16 cytokines, including Th1 cytokines, Th2 cytokines, chemokines, and growth factors, than patients with uncomplicated influenza. The distribution of 27 cytokines in the CSF did not parallel the serum levels in 11 patients with acute encephalopathy. HMGB1 concentrations in the serum were significantly higher in pneumonia patients with or without encephalopathy than in uncomplicated influenza patients, and were significantly associated with the upregulation of 10 cytokines. CONCLUSIONS: Elevated levels of Th2 cytokines appear to be unique to influenza caused by 2009 H1N1 influenza virus and HMGB1 could play an important role in the pathogenesis of severe pneumonia. There appear to be different pathologic processes for encephalopathy and pneumonia.


Assuntos
Encefalopatias/complicações , Citocinas/líquido cefalorraquidiano , Proteína HMGB1/líquido cefalorraquidiano , Vírus da Influenza A Subtipo H1N1/isolamento & purificação , Influenza Humana/epidemiologia , Pneumonia/complicações , Adolescente , Criança , Pré-Escolar , Citocromos c/sangue , Citocinas/sangue , Surtos de Doenças , Feminino , Proteína HMGB1/sangue , Humanos , Lactente , Influenza Humana/complicações , Influenza Humana/virologia , Japão/epidemiologia , Masculino
15.
Brain Dev ; 43(3): 459-463, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33272775

RESUMO

BACKGROUND: MICPCH is manifested as microcephaly associated with pontocerebellar hypoplasia and global developmental delay but developmental regression has never been reported. We describe the detailed clinical history of a woman with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH) with a CASK mutation who exhibited gross motor regression after adolescence. CASE: The patient experienced severe motor and intellectual developmental delay with microcephaly from infancy. The initial diagnosis was Rett syndrome based on her clinical features, including hand stereotypes and the absence of structural abnormality on magnetic resonance imaging (MRI) performed at the age of 5 years. Although gross motor abilities developed slowly and she could walk independently, she never acquired speech or understanding of languages. After adolescence, her motor ability gradually regressed so that she was unable to stand without support and moved with a wheelchair. At the age of 31 years, because of her atypical clinical course for Rett syndrome, whole exome sequencing was performed, which revealed a de novo heterozygous c.2068 + 1G > A mutation in the CASK gene (NM_001126055). Brain MRI revealed mild pontocerebellar hypoplasia compatible with the clinical phenotype of MICPCH. DISCUSSION: This case suggests that MICPCH with a CASK mutation might cause developmental regression after adolescence and might be regarded as a neurodegenerative disorder.


Assuntos
Progressão da Doença , Guanilato Quinases/genética , Deficiência Intelectual Ligada ao Cromossomo X/genética , Microcefalia/genética , Adulto , Feminino , Humanos , Destreza Motora , Mutação , Transtornos do Neurodesenvolvimento/genética
16.
Nippon Ganka Gakkai Zasshi ; 114(12): 1013-8, 2010 Dec.
Artigo em Japonês | MEDLINE | ID: mdl-21268815

RESUMO

PURPOSE: To evaluate the effects of intravitreal bevacizumab (IVB) injections for secondary macular edema of branch retinal vein occlusion (BRVO). SUBJECTS AND METHODS: We treated 91 patients (91 eyes) with IVB injections (1.25 mg/0.05 ml), including 27 eyes which received two injections. Visual acuity and central retinal thickness (CRT) were measured at 1, 4, 8 and 12 weeks after injection. RESULTS: The mean visual acuity and CRT improved from 0.25 (610.8 microm) at baseline to 0.47 (238.4 microm) 4 weeks after injection and 0.45 (368.7 microm) after 12 weeks. Twenty seven eyes among the total of 91 eyes had a second injection due to recurrence or worsened metamorphopsia. In these cases, mean visual acuity and CRT improved from 0.33 (483.7 microm) at baseline to 0.44 (234.3 microm) 4 weeks after injection and 0.42 (296.8 microm) after 12 weeks. Comparing the efficacy by the number of treatments, visual acuity and CRT improved more significantly in a first time treatment group. CONCLUSIONS: IVB injection is generally effective, but recurrence occurred in 26/47 eyes based on CRT. The second injection is effective, however, its effect is weak when compared with the first injection.


Assuntos
Inibidores da Angiogênese/administração & dosagem , Anticorpos Monoclonais/administração & dosagem , Edema Macular/tratamento farmacológico , Edema Macular/etiologia , Oclusão da Veia Retiniana/complicações , Adulto , Idoso , Idoso de 80 Anos ou mais , Anticorpos Monoclonais Humanizados , Bevacizumab , Feminino , Humanos , Injeções Intraoculares , Edema Macular/patologia , Edema Macular/fisiopatologia , Masculino , Pessoa de Meia-Idade , Recidiva , Retina/patologia , Oclusão da Veia Retiniana/patologia , Oclusão da Veia Retiniana/fisiopatologia , Resultado do Tratamento , Acuidade Visual
17.
BMJ Case Rep ; 12(10)2019 Oct 10.
Artigo em Inglês | MEDLINE | ID: mdl-31604719

RESUMO

Nutcracker syndrome (NCS) is a pathological condition in which the left renal vein (LRV) is compressed between the superior mesenteric artery (SMA) and aorta. NCS can predispose patients to the onset of chronic kidney disease because of persistent increase in LRV pressure. Although NCS in children is often idiopathic, it can also be caused by underlying pathologies such as retroperitoneal tumours. To the best of our knowledge, there have been no reports regarding paediatric cases of NCS complicated with intestinal malrotation. Here, we report the case of a 12-year-old girl with intestinal malrotation complicated with NCS whose haematuria resolved after surgical intervention for intestinal malrotation. The present case findings indicate that intestinal malrotation with concomitant weight loss is a potential underlying aetiology in NCS. Thus, when NCS is especially diagnosed with gastrointestinal symptoms, intestinal malrotation should be considered as an underlying aetiology.


Assuntos
Anormalidades do Sistema Digestório/complicações , Volvo Intestinal/complicações , Síndrome do Quebra-Nozes/etiologia , Dor Abdominal , Criança , Anormalidades do Sistema Digestório/diagnóstico por imagem , Anormalidades do Sistema Digestório/cirurgia , Feminino , Hematúria , Humanos , Volvo Intestinal/diagnóstico por imagem , Volvo Intestinal/cirurgia , Laparoscópios , Síndrome do Quebra-Nozes/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Vômito
19.
Brain Dev ; 41(10): 862-869, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31351739

RESUMO

OBJECTIVES: Acute encephalopathy is an acute brain dysfunction after preceding infection, consisting of multiple syndromes. Some syndromes, such as acute encephalopathy with biphasic seizures and late reduced diffusion (AESD), are severe with poor outcome, whereas others, such as clinically mild encephalitis/encephalopathy with reversible splenial lesion (MERS), are mild with favorable outcome. Previous study reported the association of the thermolabile polymorphism in Carnitine Palmitoyltransferase 2 (CPT2) gene and severe syndromes of acute encephalopathy. To further explore the pathogenetic role of CPT2 in acute encephalopathy, we conducted a case-control association study of a typical thermolabile CPT2 polymorphism, rs2229291, in 416 patients of acute encephalopathy, including both severe and mild syndromes. METHODS: The case cohort consisted of 416 patients, including AESD, MERS, and other syndromes. The control subjects were 100 healthy Japanese. rs2229291 was genotyped by Sanger sequencing. Genetic distribution was compared between the patients and controls using Cochran-Armitage trend test. RESULTS: Minor allele frequency of rs2229291 was significantly higher in AESD (p = 0.044), MERS (p = 0.015) and entire acute encephalopathy (p = 0.044) compared to the controls. The polymorphism showed no significant association with influenza virus, or with outcome. CONCLUSIONS: This study provided evidence that CPT2 is a susceptibility gene for overall acute encephalopathy, including both severe and mild syndromes, and suggested that impairment of mitochondrial metabolism is common to various syndromes of acute encephalopathy.


Assuntos
Encefalopatias/genética , Carnitina O-Palmitoiltransferase/genética , Alelos , Carnitina O-Palmitoiltransferase/deficiência , Estudos de Casos e Controles , Pré-Escolar , Encefalite , Feminino , Frequência do Gene/genética , Estudo de Associação Genômica Ampla/métodos , Genótipo , Humanos , Lactente , Japão , Masculino , Polimorfismo Genético/genética , Fatores de Risco , Convulsões
20.
No Shinkei Geka ; 35(9): 901-5, 2007 Sep.
Artigo em Japonês | MEDLINE | ID: mdl-17867310

RESUMO

We report an uncommon case of breast cancer metastasis to an intracranial meningioma. A 47-year-old female was admitted to our hospital due to general convulsion. She had undergone a radical operation for left breast cancer 4 years refore, and received postoperative adjuvant therapies. MRI revealed a solid well-circumscribed tumor in the right frontal convexity. The patient underwent tumor resection successfully. The pathological examination revealed ductal carcinoma in the tissue of a transitional meningioma. Tumor-to tumor metastasis is a rare event. Literature review and discussion of such an uncommon occurrence was presented.


Assuntos
Neoplasias da Mama/patologia , Carcinoma Ductal/patologia , Carcinoma Ductal/secundário , Meningioma/patologia , Feminino , Humanos , Pessoa de Meia-Idade , Neoplasias Primárias Múltiplas/patologia
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