RESUMEN
BACKGROUND: Severe neonatal hypoglycemia may cause irreversible neurological sequelae. Although blood glucose (BG) screening in term neonates without risk factors for hypoglycemia (non-risk neonates) is not recommended in the current guidelines, severe hypoglycemia can occur in such neonates. To evaluate the necessity of BG screening in non-risk neonates, it is important to determine the accurate incidence of severe hypoglycemia in those neonates. METHODS: We conducted a 10 year survey of all normal-weight term neonates diagnosed with severe neonatal hypoglycemia who were treated at secondary- and tertiary-level neonatal centers in Toyama Prefecture, Japan, between January 2011 and December 2020. RESULTS: During the study period, 11 cases of severe neonatal hypoglycemia (six of which occurred in non-risk neonates) were identified. The overall incidence of severe hypoglycemia was 1 in 5,827 normal-weight term births, and the incidence in non-risk neonates was 1 in 10 682 normal-weight term births. All of the cases in non-risk neonates were diagnosed as hyperinsulinemic hypoglycemia. CONCLUSIONS: This is the first population-based study to have identified the actual incidence of severe pathological neonatal hypoglycemia in non-risk neonates. The incidence was not low compared with those of the newborn screening disorders, justifying the necessity of BG screening even in non-risk neonates.
Asunto(s)
Enfermedades Fetales , Hipoglucemia , Enfermedades del Recién Nacido , Glucemia , Femenino , Glucosa , Humanos , Hipoglucemia/diagnóstico , Hipoglucemia/epidemiología , Recién Nacido , Enfermedades del Recién Nacido/diagnóstico , Japón/epidemiología , Tamizaje NeonatalRESUMEN
BACKGROUND: Blood sodium and ketone are parameters of dehydration and fasting, respectively. Little is known, however, about the postnatal changes in these parameters in healthy, term, exclusively breast-fed neonates. METHODS: Capillary blood sodium, ß-hydroxybutyrate (ß-OHB), and glucose levels in 628 samples obtained from 392 healthy, term, exclusively breast-fed neonates during the first 12-143 h of life were examined. RESULTS: Blood sodium and ß-OHB gradually increased and reached a peak at 48-59 h of life (mean blood sodium, 142.3 ± 2.8 mEq/L; mean blood sodium increase, 3.3 mEq/L; mean ß-OHB, 1.16 ± 0.46 mmol/L; mean ß-OHB increase, 0.65 mmol/L), and then gradually decreased and reached a nadir at 120-143 h of life. Blood glucose gradually decreased and reached a nadir at 48-59 h of life (mean, 62.4 ± 12.2 mg/dL; mean decrease, 4.7 mg/dL), and then gradually increased and peaked at 120-143 h of life. These changes were synchronized with changes in weight-loss percentage. CONCLUSIONS: The postnatal changes in blood sodium, ketone, and glucose levels during the first 12-143 h of life are described in healthy, term, exclusively breast-fed neonates. The parameters seemed to be associated with the sufficiency of the breast-milk supply. These results can serve as normal reference values for healthy, term, exclusively breast-fed neonates during the early postnatal period.
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Ácido 3-Hidroxibutírico/sangre , Glucemia/metabolismo , Lactancia Materna , Recién Nacido/sangre , Sodio/sangre , Estudios de Cohortes , Femenino , Humanos , MasculinoRESUMEN
Branchio-oto-renal (BOR) syndrome is a rare autosomal dominant disorder characterized by branchiogenic anomalies, hearing loss, and renal anomalies. The aim of this study was to reveal the clinical phenotypes and their causative genes in Japanese BOR patients. Patients clinically diagnosed with BOR syndrome were analyzed by direct sequencing, multiplex ligation-dependent probe amplification (MLPA), array-based comparative genomic hybridization (aCGH), and next-generation sequencing (NGS). We identified the causative genes in 38/51 patients from 26/36 families; EYA1 aberrations were identified in 22 families, SALL1 mutations were identified in two families, and SIX1 mutations and a 22q partial tetrasomy were identified in one family each. All patients identified with causative genes suffered from hearing loss. Second branchial arch anomalies, including a cervical fistula or cyst, preauricular pits, and renal anomalies, were frequently identified (>60%) in patients with EYA1 aberrations. Renal hypodysplasia or unknown-cause renal insufficiency was identified in more than half of patients with EYA1 aberrations. Even within the same family, renal phenotypes often varied substantially. In addition to direct sequencing, MLPA and NGS were useful for the genetic analysis of BOR patients.
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Síndrome Branquio Oto Renal/diagnóstico , Síndrome Branquio Oto Renal/genética , Estudios de Asociación Genética , Variación Genética , Genotipo , Fenotipo , Adolescente , Adulto , Anciano , Niño , Preescolar , Hibridación Genómica Comparativa , Femenino , Marcadores Genéticos , Humanos , Lactante , Recién Nacido , Péptidos y Proteínas de Señalización Intracelular/genética , Masculino , Persona de Mediana Edad , Proteínas Nucleares/genética , Proteínas Tirosina Fosfatasas/genética , Adulto JovenRESUMEN
OBJECTIVE: To determine the utility of capillary blood ketone levels as an indicator of inadequate intake of breast milk in the early postnatal period. STUDY DESIGN: Levels of capillary blood beta-hydroxybutyrate (ßOHB), the main ketone body in the blood, were measured with a bedside ketone meter in 585 full-term neonates aged 48-95 hours who were breastfed exclusively. Relationships between weight-loss percentage, blood sodium, glucose, pH, partial pressure of carbon dioxide, base-deficit levels, and ßOHB levels were investigated. The diagnostic accuracy of ßOHB for predicting excessive weight loss (weight loss ≥10% of birth weight) and hypernatremic dehydration (blood sodium level ≥150 mEq/L) was determined. RESULTS: ßOHB levels were correlated positively with weight-loss percentage and blood sodium levels and were correlated negatively with blood glucose levels. The diagnostic accuracy of ßOHB was 0.846 (optimal cut off, 1.55 mmol/L; sensitivity, 80.9%, specificity, 74.0%) for predicting excessive weight loss and 0.868 (optimal cut off, 1.85 mmol/L; sensitivity, 94.3%; specificity, 69.9%) for predicting hypernatremic dehydration according to the area under the receiver operating characteristic curve. Multiple logistic analysis revealed that ßOHB and weight loss percentage were the only independent predictors of hypernatremic dehydration. Increases in ßOHB levels also were associated with worsening metabolic acidosis and hypocapnia. CONCLUSION: High ßOHB levels were associated with inadequate intake of breast milk in the early postnatal period. The use of bedside capillary blood ketone levels may be clinically useful as an indicator of dehydration, energy depletion, and acid-base imbalance in breastfeeding infants in the early postnatal period.
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Ácido 3-Hidroxibutírico/sangre , Desequilibrio Ácido-Base/diagnóstico , Lactancia Materna , Deshidratación/diagnóstico , Desnutrición/diagnóstico , Desequilibrio Ácido-Base/sangre , Desequilibrio Ácido-Base/etiología , Biomarcadores/sangre , Capilares , Deshidratación/sangre , Deshidratación/etiología , Femenino , Humanos , Cuidado del Lactante , Recién Nacido , Modelos Logísticos , Masculino , Desnutrición/sangre , Desnutrición/etiología , Pruebas en el Punto de Atención , Sensibilidad y Especificidad , Pérdida de PesoRESUMEN
Herein we describe the case of a 1-month-old boy with acute viral myocarditis, who presented with two kinds of paroxysmal supraventricular tachycardia, and who was cured after medical treatment. He was brought to the emergency room with poor feeding due to fever. On the third day of hospitalization, a narrow QRS tachycardia (180-200 beats/min) was detected. Echocardiography showed a high echoic area at the atrial septum around the atrioventricular node. The patient was clinically diagnosed with acute myocarditis. The narrow QRS tachycardia was diagnosed as incessant junctional ectopic tachycardia. The patient was treated with propranolol and landiolol. The frequency of the tachycardia decreased, but a different narrow QRS tachycardia was detected on the 15th day of hospitalization on electrocardiogram (220 beats/min), which was ascribed to atrioventricular nodal re-entrant tachycardia. Atenolol was effective for the tachycardia. At 2 years follow up, cardiac function was normal and tachycardia had not recurred.
Asunto(s)
Infecciones por Coxsackievirus/diagnóstico , Enterovirus Humano B/aislamiento & purificación , Miocarditis/diagnóstico , Taquicardia Supraventricular/etiología , Infecciones por Coxsackievirus/complicaciones , Humanos , Lactante , Masculino , Miocarditis/complicaciones , Miocarditis/virología , Taquicardia Ectópica de Unión/diagnóstico , Taquicardia Ectópica de Unión/etiología , Taquicardia Supraventricular/diagnósticoRESUMEN
A left atrium thrombus, potentially a life-threatening complication, is an extremely rare in early infancy. Most cases are caused by mal-placement of central venous catheters or related to congenital heart diseases with left atrial blood congestion. Here we present an extremely low birth weight infant who developed a left atrial thrombus during the course of late onset circulatory dysfunction. The thrombus was successfully treated by recombinant tissue plasminogen activator. A hemodynamically unstable condition like late onset circulatory dysfunction should be taken into consideration as a potential risk condition of this rare disease.
Asunto(s)
Circulación Sanguínea , Atrios Cardíacos , Cardiopatías/fisiopatología , Trombosis/fisiopatología , Cardiopatías/diagnóstico , Humanos , Recien Nacido con Peso al Nacer Extremadamente Bajo , Recién Nacido , Masculino , Trombosis/diagnóstico , Factores de TiempoRESUMEN
AIM: The aim of this study was to determine whether amniotic fluid levels of annexin A2, a phospholipid-binding protein that is abundant in amnion and regulates fibrin homeostasis, are associated with histological chorioamnionitis, preterm premature rupture of the membranes, and subsequent preterm delivery. MATERIALS AND METHODS: Amniotic fluid was obtained from 55 pregnant women with preterm labor and/or preterm premature rupture of the membranes before 32weeks of gestation, and amniotic fluid levels of annexin A2 were measured with a sandwich enzyme-linked immunosorbent assay. RESULTS: Amniotic fluid levels of annexin A2 in patients with histological chorioamnionitis was higher than that in the remainder (P=0.053), whereas amniotic fluid levels of annexin A2 in patients with preterm premature rupture of the membranes was significantly higher than that in the remainder (P=0.002). Amniotic levels of annexin A2 was a fair test (area under receiver-operator characteristic curve=0.679), and amniotic fluid levels of annexin A2>878.2ng/mL had a sensitivity of 68.8%, a specificity of 65.2%, a positive predictive value of 73.3%, and a negative predictive value of 60.0% for predicting delivery within 2weeks after amniotic fluid sampling. Furthermore, the combined use of amniotic fluid cut-off levels of 878.2ng/mL for annexin A2 and 13.3ng/mL for interleukin-8 improved the specificity (91.3%) and the positive predictive value (89.5%). CONCLUSIONS: We identified amniotic fluid levels of annexin A2, especially in combination with amniotic fluid levels of interleukin-8, as a novel predictive marker for preterm delivery.
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Líquido Amniótico/metabolismo , Anexina A2/metabolismo , Corioamnionitis/metabolismo , Rotura Prematura de Membranas Fetales/metabolismo , Nacimiento Prematuro/metabolismo , Adulto , Femenino , Humanos , Interleucina-8/metabolismo , Valor Predictivo de las Pruebas , EmbarazoRESUMEN
This report describes a 2-year-old girl with congenitally corrected transposition of the great arteries (ccTGA) who presented with transient complete atrioventricular (AV) block after a mild chest blow. Running around the house with her older sister, she fell to the floor. Her sister also fell and landed on her. The girl became cyanotic and pale and experienced a transient loss of consciousness. At arrival to the emergency department, she had regained consciousness, but she remained pale. An electrocardiogram (ECG) demonstrated complete AV block with a heart rate of 78 beats per minute (bpm). The ECG after admission showed a Wenckebach-type second-degree AV block. Day 2 after admission, a 12-lead ECG showed significant ST and T-wave abnormalities in the precordial leads, but the girl had no chest pain and a normal physical examination. Echocardiography demonstrated normal contractility of the systemic right ventricle. The first-degree AV block and the ST and T-wave abnormalities on the 12-lead ECG improved gradually without abnormal Q-waves. This is the first report of ccTGA in which a transient complete AV block naturally recovered after a presentation with commotio cordis.
Asunto(s)
Accidentes por Caídas , Commotio Cordis/complicaciones , Bloqueo Cardíaco/etiología , Transposición de los Grandes Vasos/complicaciones , Preescolar , Commotio Cordis/diagnóstico , Transposición Congénitamente Corregida de las Grandes Arterias , Diagnóstico Diferencial , Ecocardiografía , Electrocardiografía , Femenino , Estudios de Seguimiento , Bloqueo Cardíaco/diagnóstico , Humanos , Radiografía Torácica , Remisión Espontánea , Transposición de los Grandes Vasos/diagnósticoRESUMEN
RATIONALE: The clinicopathologic appearance of fetal closed head injury (FCHI) due to a maternal motor vehicle accident has not been fully investigated because of its extreme rarity. PATIENTS CONCERN: A 22-year-old woman at 31 weeks of gestation was riding in the front passenger seat of a car, and another rightward-turning car struck the right side of her vehicle. DIAGNOSIS: Uterine injury with placental abruption was strongly suspected. INTERVENTION: A live female infant in breech presentation was delivered by emergency caesarean section. OUTCOMES: Although the female infant was and showed no evidence of trauma on her body surface. She exhibited a convulsion on the day of birth, and subsequent ultrasonography revealed possible intracranial hemorrhage. Although laboratory parameters associated with circulatory and respiratory function suggested a good response to the intensive care administered during the treatment course, the infant died 6 days later despite intensive care. Autopsy showed severe brain softening, subarachnoid hemorrhage with cerebral and cerebellar contusion, and bilateral thalamic hemorrhage. No hypoxic/ischemic changes of the thoracoabdominal organs were evident at autopsy. LESSONS: This was a clear case of FCHI by both shear and tensile forces. Multiple factors including the structural vulnerability of the fetal brain, the head posture of the fetus, the crash location and direction of force on the vehicle, and the employment of safety equipment may have contributed to the occurrence of FCHI in the present case.
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Lesiones Traumáticas del Encéfalo/diagnóstico por imagen , Traumatismos Cerrados de la Cabeza/diagnóstico por imagen , Accidentes de Tránsito , Lesiones Traumáticas del Encéfalo/etiología , Presentación de Nalgas , Cesárea , Cuidados Críticos , Resultado Fatal , Femenino , Traumatismos Cerrados de la Cabeza/etiología , Humanos , Embarazo , Ultrasonografía , Adulto JovenRESUMEN
Chorioamnionitis (CAM) is a major cause of preterm delivery. Inflammatory cytokines and chemokines play important roles in the pathogenesis of preterm delivery. Interleukin (IL)-17 is a key cytokine which induces inflammation and is critical to host defense. In this study, we examined the role of IL-17 in the pathogenesis of preterm delivery. The levels of cytokines including IL-17, IL-8 and tumor necrosis factor (TNF) alpha were measured by ELISA in amniotic fluid from 154 cases of preterm labor. Flow cytometry and immunohistochemical staining were performed to determine the distribution of IL-17-producing cells. IL-8 secretion was evaluated in primary cultured human amniotic mesenchymal (HAM) cells and human amniotic epithelial (HAE) cells stimulated with IL-17, TNFalpha or IL-1beta. We also studied the signaling pathway of IL-17 and TNFalpha in HAM cells. Levels of inflammatory cytokines in amniotic fluid were higher in preterm delivery cases than in term delivery cases. Furthermore, IL-8, IL-17 and TNFalpha levels were significantly higher in the preterm cases with CAM stage II or III than those without CAM. Flow cytometry and immunohistochemical staining revealed that CD3(+)CD4(+) T cells were the main source of IL-17 in the chorioamniotic membrane. Interestingly, TNFalpha-induced IL-8 secretion was enhanced by IL-17 in a dose-dependent manner in HAM cells. The IKK inhibitor BMS-345541 and mitogen-activated protein kinase (MAPK) inhibitors p38, JNK and p42/44 (ERK1/2 pathway) reduced IL-8 secretion by IL-17-stimulated and TNFalpha-stimulated HAM cells. These results indicate that IL-17, produced by T cells, promotes inflammation at the fetomaternal interface in preterm delivery.