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1.
Am J Med Genet A ; 176(9): 1941-1949, 2018 09.
Article in English | MEDLINE | ID: mdl-30152146

ABSTRACT

Management of children with trisomy 13 (T13) is controversial because of a paucity of evidence of the natural history, especially focusing on efficacy of treatment. There has been no report regarding natural history of children with T13 receiving intensive neonatal and pediatric treatment without cardiac surgery, although several reports have suggested efficacy of cardiac surgery. To describe the detailed and comprehensive natural history of children with T13 receiving intensive neonatal and pediatric treatment without cardiac surgery, we reviewed clinical information of 24 children with full T13 (15 boys, 9 girls) who were admitted to Nagano Children's Hospital from 1994 to 2016. Intensive neonatal and pediatric treatment without cardiac surgery was provided through careful discussion with the parents. We detailed accurate frequencies of complications, survival, underlying factors and the final modes of death, and psychomotor development of survivors. Unpublished complications including aortopulmonary window, pulmonary-ductus-descending aorta-trunk, biliary system abnormalities, eosinophilic enteritis, and neuroblastoma were described. Accurate frequencies of congenital heart defects (92%) and laryngomalacia and/or tracheomalacia (42%) were determined. The median survival time was 451 days and the 1-year survival rate was 54%. The major underlying factor associated with death was congenital heart defects and heart failure (63%) and the major final mode of death was heart failure (50%). Long-term survivors appeared to show slow but constant psychomotor development. Intensive neonatal and pediatric treatment without cardiac surgery for children with T13 is efficient for survival and psychomotor development, and could be a reasonable choice for parents having fetuses or children with T13.


Subject(s)
Critical Care , Trisomy 13 Syndrome/therapy , Cause of Death , Child Development , Critical Care/methods , Delivery, Obstetric , Disease Management , Female , Humans , Infant, Newborn , Intensive Care, Neonatal , Kaplan-Meier Estimate , Male , Phenotype , Prognosis , Trisomy 13 Syndrome/diagnosis , Trisomy 13 Syndrome/genetics , Trisomy 13 Syndrome/mortality , Ultrasonography, Prenatal
2.
J Int Med Res ; 43(5): 648-52, 2015 Oct.
Article in English | MEDLINE | ID: mdl-26338763

ABSTRACT

OBJECTIVES: To compare the diagnostic performance of two norovirus rapid immunochromatographic kits (QuickNavi(®)-Norovirus [QN] and QuickNavi®-Norovirus 2 [QN2]; Denka Seiken, Niigata, Japan) for neonatal and infant faecal specimens. METHODS: Monthly faecal samples were collected from infants from birth to 12 months of age, and tested for norovirus using QN and QN2. Real-time reverse transcription polymerase chain reaction (RT-PCR) was used as the gold standard for norovirus detection. The diagnostic performance of the kits was calculated. RESULTS: A total of 343 specimens from 81 infants were analysed. In all samples, the specificity of QN and QN2 was 80% (275/343) and 99% (339/343), respectively. In infants aged <1 month, the specificity of QN was 33% (23/70), increasing to 93% at 4 months of age. Specificity of QN2 was ≥94% in infants between 0 and 12 months of age. CONCLUSIONS: QN2 offers improved performance and is more useful than QN for the diagnosis of norovirus infection in the neonatal and infant period.


Subject(s)
Caliciviridae Infections/virology , Chromatography, Affinity/methods , Feces/virology , Norovirus/isolation & purification , Female , Humans , Infant , Infant, Newborn , Male , Sensitivity and Specificity
3.
Allergol Int ; 60(4): 467-72, 2011 Dec.
Article in English | MEDLINE | ID: mdl-21681019

ABSTRACT

BACKGROUND: Respiratory syncytial virus (RSV) is a major respiratory pathogen which causes bronchiolitis with dyspnea and wheezing in children less than 2 years old. RSV bronchiolitis in infancy severe enough to cause hospitalization might be a risk factor for allergic sensitization and bronchial asthma in future. However, the pathophysiology behind this development has not been clearly characterized. To evaluate the existence of airway inflammation and characteristic of RSV bronchiolitis, we analyzed and compared the concentrations of eosinophilic cationic protein (ECP) in nasal fluid and plasma. METHODS: From 69 infants (aged <2 years) hospitalized for possible lower respiratory tract infections including RSV infection, we collected nasal fluid and plasma and determined the ECP concentrations. RESULTS: ECP concentrations in nasal fluid were significantly higher in patients with wheezing and/or bronchial rales than in patients without them (1733 ± 660 ng/mL vs 680 ± 450 ng/mL, p = 0.018), and those of the respiratory syncitial virus-infected group were significantly higher than those of the uninfected group (p = 0.04). Meanwhile, there was no significant difference in plasma ECP levels between patients with wheezing and patients without wheezing, and no significant difference between RSV-infected and other pathogen-infected patients. There were significant correlations between nasal fluid ECP concentrations and both neutrophil and eosinophil counts in the peripheral blood. CONCLUSIONS: Nasal fluid ECP concentrations are increased in infants with lower respiratory infections including RSV infection accompanied with wheezing. ECP probably originates from neutrophils as well as eosinophils migrated into airways. The monitoring of ECP concentration in nasal fluid may be useful for evaluating leukocyte (including eosinophils and neutrophils)-mediated airway inflammation during infancy and its severity.


Subject(s)
Eosinophil Cationic Protein/analysis , Hospitalization , Nasal Lavage Fluid/immunology , Respiratory Sounds/etiology , Respiratory Syncytial Virus Infections/immunology , Female , Humans , Hypersensitivity/immunology , Infant , Infant, Newborn , Male , Respiratory Sounds/immunology , Time Factors
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