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OBJECTIVES: To determine the optimal management for early-onset thrombophilia (EOT), the genetic and clinical features of protein C (PC)-, protein S (PS)-, or antithrombin (AT)-deficient patients of ≤20 years of age were studied in Japan. METHODS/RESULTS: Clinical and genetic information of all genetically diagnosed cases was collected through the prospective, retrospective study, and literature review. One-hundred-one patients had PC (n = 55), PS (n = 29), or AT deficiency (n = 18). One overlapping case had PC- and PS-monoallelic variant. Fifty-five PC-deficient patients (54%) had 26 monoallelic or 29 biallelic variant(s), and 29 (29%) PS-deficient patients had 20 monoallelic or nine biallelic variant(s). None of the patients had AT-biallelic variants. The frequent low-risk allele p.K193del (PC-Tottori) was found in five patients with monoallelic (19%) but not 29 with biallelic variant(s). The most common low-risk allele p.K196E (PS-Tokushima) was found in five with monoallelic (25%) and six with biallelic variant(s) (67%). One exceptional de novo PC variant was found in 32 families with EOT. Only five parents had a history of thromboembolism. Thrombosis concurrently developed in three mother-newborn pairs (two PC deficiency and one AT deficiency). The prospective cohort revealed the outcomes of 35 patients: three deaths with PC deficiency and 20 complication-free survivors. Neurological complications were more frequently found in patients with PC-biallelic variants than those with PC-, PS-, or AT-monoallelic variants (73% vs. 24%, p = .019). CONCLUSIONS: We demonstrate the need for elective screening for EOT targeting PC deficiency in Japan. Early prenatal diagnosis of PC deficiency in mother-infant pairs may prevent perinatal thrombosis in them.
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Deficiencia de Antitrombina III , Deficiencia de Proteína C , Deficiencia de Proteína S , Trombofilia , Trombosis , Recién Nacido , Femenino , Embarazo , Humanos , Estudios Retrospectivos , Estudios Prospectivos , Japón/epidemiología , Deficiencia de Proteína S/complicaciones , Deficiencia de Proteína S/diagnóstico , Deficiencia de Proteína S/genética , Trombofilia/complicaciones , Trombosis/etiología , Trombosis/genética , Deficiencia de Proteína C/genética , Deficiencia de Proteína C/complicaciones , Proteína C/genética , Anticoagulantes , Antitrombina III , AntitrombinasRESUMEN
OBJECTIVE: To clarify the incidence and genetic risk of neonatal-thromboembolism, we conducted a nationwide study exploring the impact of thrombophilia on neonatal-thromboembolism in Japan. STUDY DESIGN: A questionnaire survey was conducted for perinatal centers in Japan, focusing on the clinical expression, genotype, treatment, and outcome of patients who developed thromboembolism within 28 days of birth from 2014 to 2018. RESULTS: The estimated incidence of neonatal-thromboembolism was 0.39 cases per 10 000 live births. Intracranial lesions and purpura fulminans occurred in 66 and 5 of 77 patients, respectively. Fifty-eight (75.3%) infants presented within 3 days after birth. Four (5.2%) died, and 14 (18.2%) survived with disability. At the diagnosis, <20% plasma activity of protein C was noted in 16 infants, protein S (in 2), and antithrombin (in 1). Thirteen genetic tests identified 4 biallelic and 5 monoallelic protein C-variants but no protein S- or antithrombin-variants. Protein C-variants had purpura fulminans (P < .01), ocular bleeding (P < .01), positive-family history (P = .01), and death or disability (P = .03) more frequently than others. Protein C-variants were independently associated with disability (OR 5.74, 95% CI 1.16-28.4, P = .03) but not death. Four biallelic variants had serious thrombotic complications of neurologic disability, blindness, and/or amputation. Three monoallelic variants survived without complications. The only protein C-variant death was an extremely preterm heterozygote infant. CONCLUSIONS: Monoallelic protein C-variants had a higher incidence of neonatal-thromboembolism than biallelic variants. Thrombophilia genetic testing should be performed in the setting of neonatal-thromboembolism and low protein C to identify the underlying genetic defect.
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Deficiencia de Proteína C/complicaciones , Tromboembolia/epidemiología , Femenino , Predisposición Genética a la Enfermedad , Humanos , Recién Nacido , Japón , Masculino , Deficiencia de Proteína C/genética , Estudios Retrospectivos , Factores de Riesgo , Encuestas y Cuestionarios , Tromboembolia/genéticaRESUMEN
BACKGROUND: This study aimed to investigate the utility of transcutaneous (tc) measurements of partial pressure of oxygen (tcPO2 ) and carbon dioxide (tcPCO2 ) monitoring in neonatal intensive care units (NICUs) in Japan. METHODS: At the end of 2016,we sent a survey questionnaire on tc monitoring to all 106 NICUs registered with the Japanese Neonatologist Association. The questions included usage, subjects, methods, management, and the practical usefulness of tc monitoring. RESULTS: The questionnaire was returned by 69 NICUs (65.1% of response rate). Seventeen institutions (24.6%) measured both tcPCO2 and tcPO2 , and 42 (60.9%) measured tcPCO2 alone. Transcutaneous PCO2 or tcPO2 monitoring was applied for "pre-viable" infants born at 22-23 weeks' gestational age (18.6% vs 23.5%), and infants of <500 g birthweight (30.5% vs 17.6%). The tcPCO2 and tcPO2 monitoring was started at birth in 49.2% and 70.6% of the newborn infants, respectively. The temperature of the sensor was set at <38°C for tcPCO2 in 54.3% and >42°C for tcPO2 in 58.9% of NICUs. The accuracy for tcPO2 was rated as good in 35.3% or moderate in 64.7%, of institutions but or for tcPCO2 as 1.7% or 93.2%of institutions , respectively. CONCLUSION: Transcutaneous monitoring was widely, but limitedly, used for preterm infants. The lower temperature of the tcPCO2 sensor compared to that reported in other developed countries might compromise the accuracy but increase the feasibility of tc monitoring in Japan.
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Monitoreo de Gas Sanguíneo Transcutáneo/métodos , Dióxido de Carbono/sangre , Oxígeno/sangre , Humanos , Lactante , Recién Nacido , Recien Nacido Prematuro/sangre , Unidades de Cuidado Intensivo Neonatal , Japón , Encuestas y CuestionariosRESUMEN
INTRODUCTION: The embryogenesis of limited dorsal myeloschisis (LDM) likely involves impaired disjunction between the cutaneous and neural ectoderms during primary neurulation. Because LDM and congenital dermal sinus (CDS) have a shared origin in this regard, CDS elements can be found in the LDM stalk. Retained medullary cord (RMC) is a closed spinal dysraphism involving a robust, elongated, cord-like structure extending from the conus medullaris to the dural cul-de-sac. Because the RMC is assumed to be caused by impaired secondary neurulation, concurrent RMC and CDS cannot be explained embryologically. In the present article, we report a case in which CDS elements were noted in each tethering stalk of a coexisting LDM and RMC. CASE PRESENTATION: A 2.5-month-old boy with left clubfoot and frequent urinary and fecal leakage had 2 tethering tracts. The upper tract, which ran from the thoracic tail-like cutaneous appendage, had CDS elements in the extradural stalk and a tiny dermoid cyst in the intradural stalk immediately after the dural entry. In the lower tract, which ran from the lumbosacral dimple, the CDS as an extradural stalk continued to the RMC at the dural cul-de-sac. Both stalks were entirely resected through skip laminotomy/laminectomy at 1 stage to untether the cord and resect the CDS elements. CONCLUSION: Surgeons should be aware that CDS elements, in addition to LDM, may coexist with RMC that extends out to the extradural space.
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Meningomielocele , Espina Bífida Oculta , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Neurulación , Espina Bífida Oculta/diagnóstico por imagen , Espina Bífida Oculta/cirugía , Médula Espinal , Columna VertebralRESUMEN
OBJECTIVE: To investigate whether the development of postnatal, late-onset refractory hypotension, referred to as late-onset circulatory collapse, was associated with an increased risk of developing cerebral palsy (CP) at 3 years of age in extremely preterm infants. METHODS: In this historical cohort study, infants who were born at 22-27 weeks of gestation from 2008 to 2012 in the Neonatal Research Network of Japan were eligible. The study sample consisted of 3474 infants (45.6% of 7613 potentially eligible infants) who were evaluated at 36-42 months of age. Late-onset circulatory collapse was defined as a clinical diagnosis of late-onset circulatory collapse requiring treatment with corticosteroids. We compared the neurodevelopmental outcomes between infants with and without late-onset circulatory collapse. RESULTS: Late-onset circulatory collapse was diagnosed in 666 of the infants studied. Infants with late-onset circulatory collapse had a higher incidence of CP than those without late-onset circulatory collapse (18.0% vs 9.8%; P < .01). In multivariable logistic analysis, late-onset circulatory collapse was independently associated with CP (aOR, 1.52; 95% CI, 1.13-2.04) and developmental quotient score of <50 (OR, 1.83; 95% CI, 1.23-2.72). CONCLUSIONS: Late-onset circulatory collapse may be a relatively common event occurring in extremely preterm infants and an independent risk factor for CP at 3 years of age.
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Parálisis Cerebral/epidemiología , Enfermedades del Prematuro/epidemiología , Choque/epidemiología , Estudios de Casos y Controles , Parálisis Cerebral/etiología , Preescolar , Femenino , Edad Gestacional , Humanos , Lactante , Recien Nacido Extremadamente Prematuro , Recién Nacido , Japón , Masculino , Estudios Retrospectivos , Factores de RiesgoRESUMEN
BACKGROUND: Lipomyelomeningocele (LMMC) is defined by a low-lying tethered spinal cord protruding posteriorly from the spinal canal and terminating in a lipomatous mass in the subcutaneous meningeal sac. The coexistence of LMMC with split cord malformation (SCM) is rare. CLINICAL PRESENTATION: We report on a patient with laterally protruded LMMC arising from the hemicord of SCM type I. Direct coronal and axial views (instead of sagittal views) of 3D heavily T2-weighted MR imaging (3D-hT2WI) clearly demonstrated the topographical relationship between both of the hemicords, the bony septum, and nerve roots in the right subcutaneous meningeal sac. CONCLUSION: Combined use of axial and coronal images of 3D-hT2W is useful for visualization and surgery of such a complicated anomaly.
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Síndrome de Brown-Séquard/diagnóstico por imagen , Imagenología Tridimensional , Imagen por Resonancia Magnética , Meningomielocele/diagnóstico por imagen , Defectos del Tubo Neural/diagnóstico por imagen , Síndrome de Brown-Séquard/complicaciones , Síndrome de Brown-Séquard/cirugía , Femenino , Estudios de Seguimiento , Humanos , Imagenología Tridimensional/métodos , Lactante , Imagen por Resonancia Magnética/métodos , Meningomielocele/complicaciones , Meningomielocele/cirugía , Defectos del Tubo Neural/complicaciones , Defectos del Tubo Neural/cirugíaRESUMEN
BACKGROUND: The early diagnosis of inherited thrombophilia in children is challenging because of the rarity and hemostatic maturation. METHODS: We explored protein C (PC), protein S (PS), and antithrombin (AT) deficiencies in 306 thromboembolic patients aged ≤20 y using the screening of plasma activity and genetic analysis. RESULTS: Reduced activities were determined in 122 patients (40%). Low PC patients were most frequently found in the lowest age group (0-2 y, 45%), while low PS or low AT patients were found in the highest age group (16-20 y; PS: 30% and AT: 20%). Genetic study was completed in 62 patients having no other causes of thromboembolism. Mutations were determined in 18 patients (8 PC, 8 PS, and 2 AT genes). Six of eight patients with PC gene mutation were found in age 0-2 y (75%), while six of eight patients with PS gene mutation were in 7-20 y. Two AT gene-mutated patients were older than 4 y. Four PC-deficient and two PS-deficient patients carried compound heterozygous mutations. All but one PC gene-mutated patient suffered from intracranial thromboembolism, while PS/AT gene-mutated patients mostly developed extracranial venous thromboembolism. CONCLUSION: Stroke in low PC infants and deep vein thrombosis in low PS/AT school age children could be targeted for genetic screening of pediatric thrombophilias.
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Resistencia a la Proteína C Activada/epidemiología , Deficiencia de Antitrombina III/epidemiología , Deficiencia de Proteína C/epidemiología , Deficiencia de Proteína S/epidemiología , Tromboembolia/etiología , Trombofilia/genética , Resistencia a la Proteína C Activada/sangre , Resistencia a la Proteína C Activada/diagnóstico , Resistencia a la Proteína C Activada/genética , Adolescente , Edad de Inicio , Antitrombina III/análisis , Antitrombina III/genética , Deficiencia de Antitrombina III/sangre , Deficiencia de Antitrombina III/diagnóstico , Deficiencia de Antitrombina III/genética , Trastornos Cerebrovasculares/epidemiología , Trastornos Cerebrovasculares/etiología , Niño , Preescolar , Análisis Mutacional de ADN , Factor V/genética , Femenino , Genotipo , Humanos , Lactante , Japón/epidemiología , Masculino , Regiones Promotoras Genéticas/genética , Proteína C/análisis , Proteína C/genética , Deficiencia de Proteína C/sangre , Deficiencia de Proteína C/diagnóstico , Deficiencia de Proteína C/genética , Proteína S/análisis , Proteína S/genética , Deficiencia de Proteína S/sangre , Deficiencia de Proteína S/diagnóstico , Deficiencia de Proteína S/genética , Protrombina/genética , Tromboembolia/epidemiología , Trombofilia/sangre , Trombofilia/diagnóstico , Trombofilia/epidemiologíaRESUMEN
Ductus arteriosus aneurysm (DAA) asymptomatically occurs in newborn infants and resolves spontaneously. High-risk DAA with compression, rupture, and thrombosis requires early surgical intervention. Newborn infants have the highest risk of thrombosis among pediatric patients, but the genetic predisposition is difficult to determine in infancy. We herein report a neonatal case of massive thromboses in DAA and pulmonary artery. Desaturation occurred in an active full-term infant 2 days after birth. Echocardiography and contrast-enhanced computed tomography indicated thrombotic occlusion of the DAA and pulmonary artery thrombus. Urgent thrombectomy and ductus resection were successfully performed. After 6 months of anticoagulant therapy, the dissociated low plasma activity levels of protein S from protein C suggested protein S deficiency. A genetic study of PROS1 identified a heterozygous variant of protein S K196E, a low-risk variant of thrombophilia in Japanese populations. There have been seven reported cases with neonatal-onset symptomatic thromboses of DAA involving the pulmonary artery. All survived without recurrence after surgical intervention in five and anticoagulant therapy alone in two. Two newborns had a heterozygous methylenetetrahydrofolate reductase ( MTHFR ) variant, but information on thrombophilia was not available for any other cases. A genetic predisposition may raise the risk of DAA thrombosis, leading to rapid progression.
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A 12-year-old Japanese boy suffered from severe acute hepatitis and pancytopenia. The patient underwent successful bone marrow transplantation from an HLA-identical sister. Torque teno virus (TTV) DNA of genotype 1a and IgM-class antibody against the virus were detected in sera at the onset of hepatitis. TTV/1a DNA and anti-TTV/1a IgM antibody levels were undetectable on the 16th and 46th days after the onset of illness, respectively. Anti-TTV/1a IgG antibody was positive throughout the observation period. Sequential viral load and anti-TTV/1a IgM antibody suggested a primary infection of TTV/1a. Genomic sequence of the virus coincided with that of the original strain first isolated from human. TTV DNA was quantified at 130 copies in 10(5) bone marrow mononuclear cells, which suggested that infection of hematopoietic cells might be the cause of aplasia. This is the first report of TTV hepatitis-associated aplastic anemia assessed by the anti-TTV antibodies and viral load in peripheral blood and bone marrow.
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Anemia Aplásica/virología , Infecciones por Virus ADN/complicaciones , Hepatitis Viral Humana/complicaciones , Torque teno virus , Anticuerpos Antivirales/sangre , Anticuerpos Antivirales/aislamiento & purificación , Niño , Humanos , Japón , Masculino , Pancitopenia/virología , Torque teno virus/inmunología , Carga ViralRESUMEN
OBJECTIVES: Tracheostomy is indicated for very-low-birth-weight infants (VLBWIs) with prolonged respiratory problems during the perinatal period. The objective of this study is to clarify the epidemiology and risk factors in VLBWIs with tracheostomy after birth in Japan. METHODS: A total of 40 806 VLBWIs were registered in the Neonatal Research Network of Japan database from 2003 to 2012. Among them, 34 674 infants (85%) survived over 28 days after birth and were subjected to this study. The clinical variables at birth, outcomes at hospital discharge and associated factors for tracheostomy were examined. RESULTS: The proportion of VLBWIs with tracheostomy did not increase during the study period (mean 36 cases per year, 0.93%). The rate of in-hospital death over 28 days after birth did not differ between tracheostomized and non-tracheostomized infants (2/324, 0.6% vs 314/34 350, 0.9%). Tracheostomized infants more frequently had severe or moderate bronchopulmonary dysplasia (BPD) (75.5% vs 26.0%, P < 0.01) and longer hospitalization (229 days vs 83 days, P < 0.01) than non-tracheostomized infants. Tracheostomized patients showed higher comorbidities with hypoxic ischemic encephalopathy (odds ratio [OR] 10.98, P < 0.01), muscular disease (OR 10.95, P < 0.01), severe or moderate BPD (OR 7.79, P < 0.01), chromosomal abnormality (OR 4.43, P < 0.01) or sepsis (OR 1.78, P < 0.05) at hospital discharge than non-tracheostomized patients. CONCLUSION: We demonstrated the non-increasing rate in tracheostomy for VLBWIs and such cases were associated with an excellent survival in Japan. These data provide evidence that more attentive care must be practiced in order to reduce the pulmonary and neuromuscular burdens of VLBWIs at birth.
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Displasia Broncopulmonar/epidemiología , Displasia Broncopulmonar/cirugía , Traqueostomía , Causas de Muerte , Femenino , Edad Gestacional , Humanos , Lactante , Recién Nacido , Recién Nacido de muy Bajo Peso , Japón , Pulmón/fisiopatología , Masculino , Alta del Paciente , Embarazo , Factores de Riesgo , Sepsis/complicaciones , Encuestas y Cuestionarios , Resultado del TratamientoRESUMEN
BACKGROUND: To investigate the hematological features of infants with bronchopulmonary dysplasia (BPD) and their relationships with clinical severity. METHODS: This prospective observational study enrolled 73 BPD patients from a total of 331 infants with a birth weight of <1500 g from 2005 to 2013. The clinical severity of BPD was defined by the duration of oxygen supplementation and positive pressure ventilation (PPV) in line with the diagnostic criteria of BPD. The hematological status and cytokine levels were surveyed from blood samples at birth and at 2 and 4 weeks of life. RESULTS: Thirty-four (46.6%) cases were classified as "moderate-to-severe" BPD. Small-for-gestational-age (SGA) was associated with the severity of BPD (OR: 5.05; 95% CI: 1.45 to 17.2). The CRP level at 2 weeks (partial regression coefficient [rc]: 21.8; 4.01 to 39.7) and the neutrophil count at 4 weeks (0.005; 0.001 to 0.007) were positively correlated with the oxygenation period. The PPV period was found to be correlated with the CRP level at 2 weeks (27.2; 14.9 to 39.5), and the neutrophil count (0.003; 0.001 to 0.004) at 4 weeks. CONCLUSION: The aggravation of BPD was associated with both SGA at birth and inflammation during neonatal period.
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Displasia Broncopulmonar/etiología , Retardo del Crecimiento Fetal , Inflamación/complicaciones , Displasia Broncopulmonar/terapia , Proteína C-Reactiva/análisis , Femenino , Humanos , Lactante , Recién Nacido , Recién Nacido Pequeño para la Edad Gestacional , Masculino , Respiración con Presión Positiva , Estudios ProspectivosRESUMEN
OBJECTIVE: To determine clinical features of very low birth weight infants (VLBWIs) who had developed epilepsy by age 3 years. STUDY DESIGN: Multicenter cohort study using the Neonatal Research Network of Japan database. We analyzed clinical variables of 8431 VLBWIs who had recorded data of neurological sequelae at age 3 years. Logistic regression identified the association between variables and development of epilepsy. RESULT: One hundred and forty-three (1.7%) infants developed epilepsy, 683 (8.1%) showed cerebral palsy (CP), and 1114 (13.2%) had psychomotor delay. Epilepsy was associated with history of sepsis [adjusted odds ratio (AOR) 3.23], severe intraventricular hemorrhage (IVH; AOR 5.13), and cystic periventricular leukomalacia (PVL; AOR 12.7). Severe IVH and cystic PVL were also frequently associated with CP and psychomotor delay. CONCLUSION: Severe IVH and cystic PVL are strongly associated with development of epilepsy, as well as other neurological sequelae, and are potential critical therapeutic targets.
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Parálisis Cerebral/epidemiología , Epilepsia/epidemiología , Recién Nacido de muy Bajo Peso , Trastornos Psicomotores/epidemiología , Hemorragia Cerebral/complicaciones , Preescolar , Estudios de Cohortes , Bases de Datos Factuales , Femenino , Edad Gestacional , Humanos , Lactante , Recién Nacido , Recien Nacido Prematuro , Japón/epidemiología , Leucomalacia Periventricular/complicaciones , Modelos Logísticos , MasculinoRESUMEN
ABSTARCT: OBJECTIVE: The diagnosis of neonatal-onset protein C (PC) deficiency is challenging. This study aimed to establish the neonatal screening of heritable PC deficiency in Japan. STUDY DESIGN: We determined the changes in plasma activity levels of PC and protein S (PS) in healthy neonates, and studied newborn patients with PROC mutation in the Japanese registry. RESULT: Physiological PC and PS levels increased with wide range. The PC/PS-activity ratios converged after birth. The PC/PS-activity ratios of 19 patients with biallelic mutations, but not, 9 with monoallelic mutation, were lower than those of 13 without mutation. The logistic regression analyses established a formula including two significant variables of PC activity (cut-off < 10%, odds ratio = 30.0) and PC/PS-activity ratio (cut-off < 0.35, odds ratio = 22.7), with 93% sensitivity and 44% specificity for determining patients with mutation(s). CONCLUSION: The PC/PS-activity ratio is an effective parameter for the genetic screening of neonatal-onset PC-deficiency in Japanese population.
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Deficiencia de Proteína C/diagnóstico , Proteína C/análisis , Proteína S/análisis , Anticoagulantes/uso terapéutico , Coagulación Sanguínea , Pruebas de Coagulación Sanguínea , Estudios de Casos y Controles , Análisis Mutacional de ADN , Femenino , Predisposición Genética a la Enfermedad , Pruebas Genéticas , Humanos , Recién Nacido , Japón , Modelos Logísticos , Masculino , Fenotipo , Valor Predictivo de las Pruebas , Deficiencia de Proteína C/sangre , Deficiencia de Proteína C/genética , Factores de Riesgo , Sensibilidad y EspecificidadRESUMEN
OBJECTIVES: To determine neurodevelopmental outcomes at 3 years of age in children born with a birth weight (BW) of ≤500 g. METHODS: Infants who were born with a BW of ≤500 g from 2003 to 2012 in the Neonatal Research Network of Japan and survived to discharge from the NICU were eligible in this study. The study population consisted of 460 children (56.7% of 811 surviving infants) who were evaluated at 36 to 42 months of age. Neurodevelopmental impairment (NDI) was defined as having cerebral palsy, visual impairment, hearing impairment, or a developmental quotient score of <70. RESULTS: The overall proportion of NDI was 59.1% (95% confidence interval [CI]: 54.6%-63.5%). The trend revealed no significant change during the study period. In a multivariate modified Poisson regression analysis, NDI was associated with severe intraventricular hemorrhage (adjusted risk ratio [RR]: 1.42; 95% CI: 1.19-1.68; P < .01), cystic periventricular leukomalacia (adjusted RR: 1.40; 95% CI: 1.13-1.73; P < .01), severe necrotizing enterocolitis (adjusted RR: 1.31; 95% CI: 1.07-1.60; P < .01), surgical ligation for patent ductus arteriosus (adjusted RR: 1.29; 95% CI: 1.09-1.54; P < .01), and male sex (adjusted RR: 1.19; 95% CI: 1.01-2.40; P = .04). CONCLUSIONS: This cohort showed that neurodevelopmental outcomes of infants with a BW of ≤500 g have not improved from 2003 to 2012. Multivariate analysis revealed that severe intracranial hemorrhage and cystic periventricular leukomalacia were the strongest risk factors for NDIs. Our data suggested that measures aimed at reducing neurologic morbidities will be important for improving outcomes of infants with a BW of ≤500 g.
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Peso al Nacer/fisiología , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/epidemiología , Recien Nacido con Peso al Nacer Extremadamente Bajo/fisiología , Preescolar , Estudios de Cohortes , Bases de Datos Factuales/tendencias , Discapacidades del Desarrollo/fisiopatología , Femenino , Humanos , Recién Nacido , Masculino , Estudios Prospectivos , Sistema de Registros , Factores de RiesgoRESUMEN
Neonatal thromboembolism occurs with various predispositions and triggers. Early diagnosis of the thrombosis is challenging and essential for the therapeutic interventions. We herein report two newborns who presented with transient hemi-lower limb ischemia due to (1) arterial thrombosis or (2) a persistent sciatic artery (PSA). The patient with arterial thrombosis showed elevations of fibrin degradation product and D-dimer and received antithrombin and heparin intravenously. The patient with PSA was immediately assessed by a contrast-enhanced computed tomography because of a transient ischemic episode with no evidence of hypercoagulability. Newborns suspected of having arterial thrombosis may need urgent surgical intervention along with thrombolytic and anticoagulant therapy to prevent organ ischemia and amputation of extremities. Conversely, some PSA cases have reportedly been treated conservatively. This vascular anomaly was previously reported as a cause of lower limb ischemia only in a newborn. PSA is a critical differential diagnosis of neonatal arterial thrombosis that needs urgent therapeutic intervention.
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Severe protein C-deficiency is a rare heritable thrombophilia of the newborn. Infants with biallelic PROC mutations present purpura fulminans and intracranial thromboembolism, while the prenatal onset of mutated heterozygotes remains unclear. We herewith present the first case of fetal ventriculomegaly and neonatal stroke associated with heterozygous PROC mutation. The infant was born to a healthy mother at 38 gestational weeks. The fetal growth had been normal, but the routine ultrasound screening had indicated mild hydrocephalus at 28 weeks of gestation. He developed convulsions two days after birth. Computed tomography of the brain revealed multiple hemorrhagic infarctions and ventriculomegaly. Dissociated levels of the plasma activity between protein C (21%) and protein S (42%) reached to determine the heterozygote of PROC c.574_576delAAG, a common thrombophilic predisposition in Asian ancestries. PC-mutant heterozygotes may have a limited high risk of cerebral thromboembolism during the perinatal course.
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Hidrocefalia/metabolismo , Deficiencia de Proteína C/fisiopatología , Proteína C/metabolismo , Accidente Cerebrovascular/metabolismo , Estudios de Asociación Genética , Heterocigoto , Humanos , Hidrocefalia/genética , Lactante , Recién Nacido , Masculino , Proteína C/genética , Deficiencia de Proteína C/genética , Deficiencia de Proteína C/metabolismo , Proteína S/metabolismo , Accidente Cerebrovascular/genética , Trombofilia/genética , Trombofilia/metabolismoRESUMEN
BACKGROUND: Increasing attention has been given to neuro-developmental problems of very low birth weight infants (VLBWIs) at school age. However, it remains unknown whether their neuro-cognitive function and psychiatric symptoms are mutually associated. AIM: The aim of this study was to investigate the characteristics of neuro-cognitive functions in VLBWIs and their relationship with psychiatric symptoms. METHODS: A total of 160 VLBWIs who were born at our institute between 2001 and 2005 were recruited consecutively and followed up until nine years of age. The developmental profiles were obtained from 77 children (45 males and 32 females) at six to nine years of age using the ADHD Rating Scale-Fourth edition (ADHD-RS), Autism Screening Questionnaire-Japanese version (ASQ-J) and the Wechsler Intelligence Scale for Children-Third edition (WISC-III). RESULTS: The full-scale intelligence quotient did not significantly differ between the male and female VLBWIs (median: 91 vs. 99, p=0.17). The males had higher total scores (median: 13 vs. 4, p<0.01) and higher scores on the subscales of Inattention (8 vs. 2, p<0.01) and Hyperactivity-Impulsivity (5 vs. 1, p<0.01) of the ADHD-RS compared with the females. The Verbal Comprehension Index (VCI) of the WISC-III was inversely correlated with the total scores of the ASQ-J for all VLBWIs (n=77, rc: -0.32, 95% CI: -0.19 to -0.01, p=0.04). We also observed that the Freedom from Distractibility Index (FDI) of the WISC-III was significantly correlated with the Inattentive scores of the ADHD-RS (n=45, rc: -0.18, 95% CI: -0.35 to -0.02, p=0.03) in male, but not female VLBWIs. CONCLUSIONS: We herein report that the VCI and FDI of the WISC-III were correlated with the autism spectrum disorder and attention deficit hyperactivity disorder symptoms, respectively, in male VLBWIs.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Trastorno del Espectro Autista/diagnóstico , Cognición/fisiología , Recién Nacido de muy Bajo Peso/psicología , Trastorno por Déficit de Atención con Hiperactividad/psicología , Trastorno del Espectro Autista/psicología , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Estudios Longitudinales , Masculino , Pruebas Neuropsicológicas , Evaluación de SíntomasRESUMEN
We reported two cases of massive bleeding due to critical hyperfibrinolysis during living-related liver transplantation (LRLT) for end stage liver cirrhosis. The total volume of bleeding amounted to 57930 ml with the case 1, and amounted to 55980 ml with the case 2. TEG was useful for diagnosis of the hyperfibrinolysis. We administrated large amounts of FFPs, MAPs, PLTs, and gabexate mesilate. By rapid transfusion, we could manage to finish the procedures without hypotension, and complications were not observed at the early postoperative stage. We thought that the cause of the hyperfibrinolysis is the increasing blood tissue plasminogen activator (t-PA) due to long-anhepatic stage and small graft size. During anesthesia, since the functional start of a transplant liver is indispensable to it, in order to support a transplant liver for an improvement of hyperfibrinolysis, it is important to keep the homeostasis, such as body temperature, blood pressure.