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OBJECTIVES: To investigate the association between multimorbidity during pregnancy and neurodevelopmental delay in offspring using data from a Japanese nationwide birth cohort study. DESIGN: This study was a prospective birth cohort study. SETTING: This study population included 104 059 fetal records who participated in The Japan Environment and Children's Study from 2011 to 2014. PARTICIPANTS: Pregnant women whose children had undergone developmental testing were included in this analysis. PRIMARY AND SECONDARY OUTCOME MEASURES: Neurodevelopment of offspring was assessed using the Japanese version of the Ages and Stages Questionnaire, third edition, comprising five developmental domains. The number of comorbidities among the pregnant women was categorised as zero, single disease or multimorbidity (two or more diseases). Maternal chronic conditions included in multimorbidity were defined as conditions with high prevalence among women of reproductive age. A multivariate logistic regression analysis was conducted to examine the association between multimorbidity in pregnant women and offspring development. RESULTS: Pregnant women with multimorbidity, single disease and no disease accounted for 3.6%, 30.6% and 65.8%, respectively. The ORs for neurodevelopmental impairment during the follow-up period were similar for infants of mothers with no disease comorbidity and those with a single disease comorbidity. However, the ORs for neurodevelopmental impairment were significantly higher for children born to mothers with multimorbidity compared with those born to healthy mothers. CONCLUSION: An association was observed between the number of comorbidities in pregnant women and developmental delay in offspring. Multimorbidity in pregnant women may be associated with neurodevelopmental delay in their offspring. Further research is required in this regard in many other regions of the world.
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Cohorte de Nacimiento , Multimorbilidad , Trastornos del Neurodesarrollo , Complicaciones del Embarazo , Humanos , Femenino , Embarazo , Japón/epidemiología , Estudios Prospectivos , Adulto , Trastornos del Neurodesarrollo/epidemiología , Complicaciones del Embarazo/epidemiología , Lactante , Masculino , Preescolar , Desarrollo Infantil , Efectos Tardíos de la Exposición Prenatal/epidemiología , Modelos Logísticos , Recién Nacido , Enfermedad Crónica/epidemiología , NiñoRESUMEN
Socioeconomic status and smoking are reportedly associated with underweight and obesity; however, their associations among pregnant women are unknown. This study aimed to investigate whether socioeconomic factors, namely educational attainment, household income, marital status, and employment status, were associated with pre-pregnancy body mass index (BMI) categories, including severe-moderate underweight (BMI ≤ 16.9 kg/m2), mild underweight (BMI, 17.0-18.4 kg/m2), overweight (BMI, 25.0-29.9 kg/m2), and obese (BMI ≥ 30.0 kg/m2) among Japanese pregnant women using data from the Japan Environment and Children's Study (JECS). In total, pregnant women were included 96,751. Age- and parity-adjusted multivariable multinomial logistic regression analyses assessed socioeconomic factors and smoking associations with falling within abnormal BMI categories (normal BMI as the reference group). Lower education and lower household were associated with overweight and obesity, and, especially, lowest education and household income had relatively higher point estimate relative ratios (RRs) of 3.97 and 2.84, respectively. Regarding the risks for underweight, however, only junior high school education had a significantly higher RR for severely to moderately underweight. Regarding occupational status, homemakers or the unemployed had a higher RR for severe-moderate underweight, overweight, and obesity. Unmarried, divorced, or bereaved women had significantly higher RRs for mildly underweight status. Quitting smoking early in pregnancy/still smoking had higher RRs for all four not having normal BMI outcomes; however, quitting smoking before pregnancy had a higher RR only for obese individuals. Lower educational attainment and smoking are essential intervention targets for obesity and severe-moderate underweight prevention in younger women. Lower household income is also a necessary target for obesity.
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Índice de Masa Corporal , Delgadez , Humanos , Femenino , Embarazo , Japón/epidemiología , Adulto , Estudios Transversales , Delgadez/epidemiología , Factores Socioeconómicos , Obesidad/epidemiología , Fumar/epidemiología , Sobrepeso/epidemiología , Adulto Joven , Factores de RiesgoRESUMEN
Pathogenic variants of HECW2 have been reported in cases of neurodevelopmental disorder with hypotonia, seizures, and absent language (NDHSAL; OMIM #617268). A novel HECW2 variant (NM_001348768.2:c.4343 T > C,p.Leu1448Ser) was identified in an NDHSAL infant with severe cardiac comorbidities. The patient presented with fetal tachyarrhythmia and hydrops and was postnatally diagnosed with long QT syndrome. This study provides evidence that HECW2 pathogenic variants can cause long QT syndrome along with neurodevelopmental disorders.
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OBJECTIVES: Multimorbidity is defined as the coexistence of two or more chronic physical or psychological conditions within an individual. The association between maternal multimorbidity and adverse perinatal outcomes such as preterm delivery and low birth weight has not been well studied. Therefore, this study aimed to investigate this association. METHODS: We conducted a prospective cohort study using data from the Japan Environment and Children's Study of pregnant women between 2011 and 2014. Those with data on chronic maternal conditions were included in the study and categorised as having no chronic condition, one chronic condition or multimorbidities. The primary outcomes were the incidence of preterm birth (PTB), low birth weight (LBW) and small for gestational age (SGA). Adjusted logistic regression was performed to estimate ORs (aORs) and 95% CIs. RESULTS: Of the 104 062 fetal records, 86 885 singleton pregnant women were analysed. The median maternal age and body mass index were 31 years and 20.5 kg/m2, respectively. The prevalence of pregnant women with one or more chronic conditions was 40.2%. The prevalence of maternal multimorbidity was 6.3%, and that of PTB, LBW, and SGA were 4.6%, 8.1%, and 7.5%, respectively. Pre-pregnancy underweight women were the most common, observed in 15.6% of multimorbidity cases, followed by domestic violence from intimate partner in 13.0%. Maternal multimorbidity was significantly associated with PTB (aOR 1.50; 95% CI 1.33-1.69), LBW (aOR 1.49; 95% CI 1.35-1.63) and SGA (aOR 1.33; 95% CI 1.20-1.46). CONCLUSION: Maternal multimorbidity was associated with adverse perinatal outcomes, including PTB, LBW and SGA. The risk of adverse perinatal outcomes tends to increase with a rise in the number of chronic maternal conditions. Multimorbidity becomes more prevalent among pregnant women, making our findings important for preconception counselling.
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Nacimiento Prematuro , Femenino , Recién Nacido , Embarazo , Niño , Humanos , Nacimiento Prematuro/epidemiología , Estudios Prospectivos , Estudios de Cohortes , Edad Gestacional , Japón/epidemiología , Multimorbilidad , Factores de Riesgo , Recién Nacido de Bajo Peso , Recién Nacido Pequeño para la Edad Gestacional , Retardo del Crecimiento Fetal/epidemiología , Peso al NacerRESUMEN
BACKGROUND: In Japan, the mortality rate of extremely low birth weight (ELBW) infants is notably low in comparison with other developed countries, but the prevalence of chronic lung disease (CLD) and retinopathy of prematurity (ROP) is relatively high. This study aimed to estimate the mortality and morbidity of ELBW infants born in 2015 who were admitted to neonatal intensive care units (NICUs) in Japan and to examine the factors that affected the short-term outcomes of these infants. We also compared the mortality of ELBW infants born in 2005, 2010, and 2015. METHODS: We analyzed the mortality, morbidity, and factors related to short-term outcomes of ELBW infants, using data from 2782 infants born in 2015 and registered at NICUs in Japan. RESULTS: The mortality rates during NICU stays were 17.0%, 12.0%, and 9.8% for ELBW infants born in 2005, 2010, and 2015, respectively. Among ELBW infants born in 2015, multiple logistic regression analysis showed that short gestational age and low birthweight Z-score contributed to the increased risk of death. Births by cesarean section and antenatal corticosteroid administration were significantly associated with a reduced risk of death. Among infants who survived, CLD was observed in 53.1% and ROP requiring treatment was observed in 30.4%. CONCLUSIONS: Mortality in ELBW infants decreased significantly from 2005 to 2015. As CLD and ROP may affect quality of life and long-term outcomes of infants who survived, prevention strategies and management for these complications are critical issues in neonatal care in Japan.
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Mortalidad Infantil , Recien Nacido con Peso al Nacer Extremadamente Bajo , Cesárea , Morbilidad , Japón/epidemiología , Retinopatía de la Prematuridad/epidemiología , Prevalencia , Lesión Pulmonar/epidemiología , Humanos , Masculino , Femenino , Calidad de VidaRESUMEN
This study aimed to document the complication status of infants with orofacial clefts born between 2011 and 2014 in Japan. This was a descriptive study using data from the Japan Environment and Children's Study. Among 103 060 pregnancies, 248 infants with orofacial clefts were included (livebirth, 239; stillbirth, 4; miscarriage, 5). The items of interest were complication status of orofacial clefts: isolated (typical orofacial clefts only); multi-malformed (orofacial clefts with unrelated major defects); syndromic (orofacial clefts with a syndrome or a chromosomal defect). Regarding the cleft subtypes, of 248 infants with orofacial clefts, 104 had cleft lip with cleft palate (CLP) (41.9%), 68 had cleft lip without cleft palate (CL) (27.4%), 58 had cleft palate without cleft lip (CP) (23.4%), and 18 were nonclassified (7.3%). In infants with CLP, the proportions of isolated, multi-malformed, and syndromic phenotypes were 73.1%, 15.4%, and 11.5%, respectively. In infants with CL, the proportions were 79.4%, 16.2%, and 4.4%, respectively. In infants with CP, the proportions were 69.0%, 13.8%, and 17.2%, respectively. The most frequently associated congenital anomaly was congenital heart disease. In infants with syndromic CLP, 41.7% had trisomy 13. In infants with syndromic CP, 80.0% had the Pierre Robin sequence. Congenital heart disease could be the most frequently associated congenital anomaly. The most frequently associated syndrome could be trisomy 13 in those with CLP and Pierre Robin sequence in those with CP.
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Labio Leporino , Fisura del Paladar , Cardiopatías Congénitas , Síndrome de Pierre Robin , Humanos , Embarazo , Femenino , Labio Leporino/diagnóstico , Labio Leporino/epidemiología , Labio Leporino/genética , Fisura del Paladar/diagnóstico , Fisura del Paladar/epidemiología , Fisura del Paladar/genética , Síndrome de la Trisomía 13 , Japón/epidemiología , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/epidemiologíaRESUMEN
BACKGROUND: Iron deficiency during infancy is associated with poor neurological development, but iron overload causes severe complications. Appropriate iron supplementation is therefore vital. Reticulocyte hemoglobin content (RET-He) provides a real-time assessment of iron status and chracterezes hemoglobin synthesis in preterm infants. However, the existing literature lacks detailed reports assessing chronological changes in RET-He. The aim of this study was to assess the chronological changes in RET-He during oral iron dietary supplementation, and concomitant therapy with recombinant human erythropoietin (rHuEPO) in preterm very low birthweight infants. METHODS: Very low birthweight infants, admitted to our neonatal intensive care unit were analyzed retrospectively. Hemoglobin (Hb), reticulocyte percentage (Ret), mean corpuscular volume, RET-He, serum iron (Fe), and serum ferritin were recorded. Data at birth (T0), the initial day of rHuEPO therapy (T1), the initial day of oral iron supplementation (T2), 1-2 weeks (T3), 3-4 weeks (T4), 5-6 weeks (T5), and 7-8 weeks (T6) from the initial day of oral iron supplementation were extracted, and their changes over time were examined. RESULTS: Reticulocyte hemoglobin content was highest at birth and declined rapidly thereafter, especially after starting rHuEPO therapy. There was no upward trend in RET-He after the initiation of oral iron supplementation, with a slower increase during 5-6 weeks after the initiation of iron therapy. CONCLUSIONS: During the treatment of anemia of prematurity, low RET-He levels may be prolonged. Anemia of prematurity should therefore be assessed and treated on a case-by-case basis, while considering the iron metabolic capacity of preterm infants.
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Anemia Ferropénica , Anemia , Eritropoyetina , Enfermedades del Prematuro , Lactante , Recién Nacido , Humanos , Reticulocitos/química , Anemia Ferropénica/etiología , Estudios Retrospectivos , Recien Nacido Prematuro , Hemoglobinas/análisis , Anemia/complicaciones , HierroRESUMEN
Although children with orofacial clefts have an increased risk for sleep-disordered breathing, no studies have examined the association of sleep duration. Thus, this study aimed to examine associations between orofacial clefts and sleep duration at 1 month, 6 months, 1 year, and 3 years of age in Japan.A cohort study from the Japan Environment and Children's Study.This study consisted of 91â 497 children, including ones with isolated cleft lip and palate (n = 69), isolated cleft lip only (n = 48), and isolated cleft palate only (n = 37), for which recruitment was undertaken during 2011 to 2014.Seep durations (hours per day) at 1 month, 6 months, 1 year, and 3 years of age, as reported by their mothers.In the control group, mean sleep durations and standard deviations at 1 month, 6 months, 1 year, and 3 years of age were 15.2 (2.5), 13.6 (1.9), 12.9 (1.6), and 11.6 (1.2) h, respectively. Compared to the control group, linear regression models reported effect sizes and 95% confidence intervals shorter than 1â h for sleep duration of each type of isolated orofacial cleft at each time point.This study suggested null associations between isolated orofacial clefts and sleep duration at 1 month, 6 months, 1 year, and 3 years of age. Children with isolated orofacial clefts had sufficient mean sleep duration.
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Urinary cotinine concentration (UCC) reflects smoking status. However, in pregnant women, its association with adverse birth outcomes related to fetal growth is not widely known. Thus, we aimed to explore this relationship by focusing on dose-response relationships. We investigated 86,638 pregnant women enrolled between 2011 and 2014 in a prospective cohort study in Japan and observed three birth outcomes (preterm birth, low birth weight, and small-for-gestational age). We measured UCC in the second or third trimester, and categorized the participants using cut-off values (negative cotinine concentration, passive cotinine concentration, and active cotinine concentration corresponding to non-smokers, passive smokers, and active smokers, respectively). Logistic regression analyses were conducted to evaluate the risks, and dose-response relationships were visualized using restricted cubic spline curves. Analyses based on self-reported smoking status were also performed. We found that in low active and highly active cotinine concentrations, the adjusted odds ratios (aORs) of birth outcomes were significantly increased (preterm birth, 1.24 [95% CI 1.06-1.46], 1.39 [95% CI 1.19-1.62]; low birth weight, 1.40 [95% CI 1.24-1.58], 2.27 [95% CI 2.05-2.53]; small-for-gestational age, 1.35 [95% CI 1.19-1.52], 2.39 [95% CI 2.16-2.65]). Restricted cubic spline curves demonstrated risk elevations in the active cotinine concentration range. Our research revealed dose-response relationships between UCC during pregnancy and the risks of preterm birth, low birth weight, and small-for-gestational age. Measurement of UCC to ascertain smoking status during pregnancy may be a useful approach for predicting the risks of these birth outcomes.
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Cotinina , Nacimiento Prematuro , Niño , Cotinina/análisis , Femenino , Humanos , Lactante , Recién Nacido , Japón/epidemiología , Embarazo , Nacimiento Prematuro/inducido químicamente , Nacimiento Prematuro/epidemiología , Estudios Prospectivos , Fumar/efectos adversos , Fumar/epidemiologíaRESUMEN
BACKGROUND: The extremes of maternal pre-pregnancy body mass index (BMI) are known to be risk factors associated with obstetric and adverse perinatal outcomes. Among Japanese women aged 20 years or older, the prevalence of underweight (BMI < 18.5 kg/m2) was 11.5% in 2019. Maternal thinness is a health problem caused by the desire to become slim. This study aimed to investigate the association between the severity of maternal low pre-pregnancy BMI and adverse perinatal outcomes, including preterm birth (PTB), low birth weight (LBW), and small-for-gestational age (SGA). METHODS: We conducted a prospective cohort study using data from the Japan Environment and Children's Study, which recruited pregnant individuals between 2011 and 2014. Pre-pregnancy BMI was categorized as severe-moderate underweight (BMI < 16.9 kg/m2), mild underweight (BMI, 17.0-18.4 kg/m2), low-normal weight (BMI, 18.5-19.9 kg/m2), high-normal weight (BMI, 20.0-22.9 kg/m2), overweight (BMI, 23.0-24.9 kg/m2), and obese (BMI ≥ 25.0 kg/m2). The high-normal weight group was used as the reference for statistical analyses. Adjusted logistic regression was performed to evaluate the association between pre-pregnancy BMI and PTB, LBW, and SGA. RESULTS: Of 92,260 singleton pregnant individuals, the prevalence was 2.7% for severe-moderate underweight, 12.9% for mild underweight, and 24.5% for low-normal weight. The prevalence of adverse outcomes was 4.6% for PTB, 8.1% for LBW, and 7.6% for SGA. The adjusted odds ratios (aORs) for PTB were 1.72 (95% confidence interval [CI], 1.46-2.03) for severe-moderate underweight and 1.26 (95% CI, 1.14-1.39) for mild underweight. The aORs of LBW were 2.55 (95% CI, 2.27-2.86) for severe-moderate underweight, 1.64 (95% CI, 1.53-1.76) for mild underweight, and 1.23 (95% CI, 1.16-1.31) for low-normal weight. The aORs of SGA were 2.53 (95% CI, 2.25-2.84) for severe-moderate underweight, 1.66 (95% CI, 1.55-1.79) for mild underweight, and 1.29 (95% CI, 1.21-1.38) for low-normal weight. CONCLUSIONS: A dose-response relationship was found between the severity of low pre-pregnancy BMI and PTB, LBW, and SGA. Even low-normal BMI (18.5-19.9 kg/m2) increased the risk of LBW and SGA. This study provides useful information for pre-conception counseling in lean individuals.
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Índice de Masa Corporal , Recién Nacido de Bajo Peso , Recién Nacido Pequeño para la Edad Gestacional , Resultado del Embarazo/epidemiología , Nacimiento Prematuro , Delgadez/epidemiología , Adulto , Pueblo Asiatico/etnología , Estudios de Cohortes , Femenino , Humanos , Recién Nacido , Japón/epidemiología , Embarazo , Prevalencia , Estudios ProspectivosRESUMEN
Clinical diagnosis of transient abnormal myelopoiesis (TAM) relies on the detection of characteristic blasts and leukocytosis in peripheral blood. We report two patients of trisomy 21 with TAM with hypereosinophilia, who had neither circulating blasts nor leukocytosis. Genetic testing of polymorphonuclear leukocytes isolated from whole blood revealed heterozygous mutations in GATA1, suggesting that the mutations were harbored in increased eosinophils. Both patients had direct hyperbilirubinemia and one died of liver fibrosis. Our findings emphasize the importance of screening for GATA1 mutations in neonatal infants with Down syndrome and hypereosinophilia even if blasts are not detected in peripheral blood smears.
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Síndrome de Down/sangre , Eosinófilos/metabolismo , Mielopoyesis/genética , Síndrome de Down/genética , Eosinófilos/citología , Femenino , Humanos , Recién Nacido , MasculinoRESUMEN
INTRODUCTION: Although imatinib is the first-line of therapy for Philadelphia chromosome (Ph)-positive chronic myeloid leukemia (CML), in Japan, it is recommended by the manufacturer that lactating women treated with imatinib mesylate for CML should discontinue breastfeeding their infants. CASE: A 32-year-old pregnant patient was diagnosed with Ph-positive CML at 13 weeks of gestation. She received imatinib (400 mg/day) after 28 weeks of gestation. A female infant was delivered at a gestational age of 35 weeks and 3/7 days after preterm premature rupture of membranes. It was decided to feed only colostrum to the infant and formula feeding was done subsequently because of the risk of the transfer of imatinib to breast milk. The milk/plasma (M/P) ratio and the relative infant dose (RID) for imatinib were calculated to be 0.35 and 1.4%, respectively at 5 days of life. Moreover, the serum level of imatinib in the child of age 5 days was 27 ng/mL, which was much lower than the target trough value for CML (1000 ng/mL). CONCLUSION: The M/P ratio and RID values for maternally administered imatinib were within the safe range for breastfeeding, as reported in previous studies. In addition, it was found that the serum concentration of imatinib in the child was relatively low during short-term breastfeeding.
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Antineoplásicos/uso terapéutico , Lactancia Materna , Leucemia Mielógena Crónica BCR-ABL Positiva/tratamiento farmacológico , Complicaciones Neoplásicas del Embarazo/tratamiento farmacológico , Inhibidores de Proteínas Quinasas/uso terapéutico , Adulto , Antineoplásicos/efectos adversos , Lactancia Materna/efectos adversos , Femenino , Humanos , Mesilato de Imatinib/efectos adversos , Mesilato de Imatinib/uso terapéutico , Lactante , Recién Nacido , Japón , Lactancia/efectos de los fármacos , Lactancia/metabolismo , Leucemia Mielógena Crónica BCR-ABL Positiva/diagnóstico , Embarazo , Complicaciones Neoplásicas del Embarazo/diagnóstico , Inhibidores de Proteínas Quinasas/efectos adversosRESUMEN
BACKGROUND: Basal meningoceles are rare congenital defects and often clinically occult until they result in life-threatening complications. Therefore, it is important to know the diagnostic clues to early diagnosis. CASE PRESENTATION: We describe three cases of congenital basal meningocele in a 3-year-old Japanese boy, a 1-month-old Japanese baby boy, and a 10-month-old Japanese baby girl. One of our patients died of sepsis due to traumatic rupture of the meningocele during nasal suction. His meningocele remained undiagnosed until it resulted in the fatal complication. The other patients underwent surgical repair without any complications. Their meningoceles were complicated by midfacial anomalies including cleft palate and hypertelorism, or a sign of nasal obstruction such as snoring. CONCLUSIONS: These clinical features may be a clue to the early diagnosis of congenital basal meningocele, which enables its safe preoperative management and provides an opportunity for surgical repair before the condition results in serious complications.
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Meningocele/patología , Cavidad Nasal/patología , Obstrucción Nasal/patología , Sepsis/etiología , Succión/efectos adversos , Pueblo Asiatico , Preescolar , Fisura del Paladar , Femenino , Humanos , Lactante , Masculino , Meningocele/diagnóstico por imagen , Meningocele/cirugía , Cavidad Nasal/diagnóstico por imagen , Obstrucción Nasal/diagnóstico por imagen , Obstrucción Nasal/cirugía , Sepsis/mortalidad , Resultado del TratamientoAsunto(s)
Atresia Biliar/diagnóstico , Grasas/análisis , Heces/química , Compuestos Azo , Colorantes , Humanos , Recién NacidoRESUMEN
Short-rib polydactyly syndrome type III is an autosomal recessive lethal skeletal ciliopathy, which is phenotypically similar to nonlethal asphyxiating thoracic dystrophy. Mutations in DYNC2H1 have been identified in both of these disorders, indicating that they are variants of a single disorder. However, short-rib polydactyly syndrome type III is the more severe variant. Here, we report novel compound heterozygous mutations in DYNC2H1 (p.E1894fsX10 and p.R3004C) in a patient with typical short-rib polydactyly syndrome type III phenotype. R3004 is located within the microtubule-binding domain of DYNC2H1, and its substitution is predicted to disrupt the interaction with microtubules. Considering the severe phenotype of our patient, our findings suggest that R3004 may be a key residue for the microtubule-binding affinity of dynein.
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Dineínas Citoplasmáticas/genética , Mutación/genética , Síndrome de Costilla Pequeña y Polidactilia/genética , Heterocigoto , Humanos , Recién Nacido , Masculino , FenotipoRESUMEN
OBJECTIVE: There is little available data on airway humidity during high-frequency ventilation (HFV). The purpose of this study is to evaluate the temperature drop in an endotracheal tube (ETT) during HFV. METHODS: We examined the airway temperature in a neonatal HFV system using Babylog® 8000 plus. We measured the temperature change of inspired gases in the ETT under various oscillatory frequencies and oscillatory volumes with a fixed base flow. The temperatures in the ETT during HFV were compared with the temperatures during conventional intermittent positive pressure ventilation (IPPV). RESULTS: As the oscillatory frequency was increased and the oscillatory volume (VThf) decreased, the difference in temperature between the Y piece and the inlet of an artificial lung in the ETT (ETT outside of body) increased. However, as the oscillatory frequency increased, there was no difference in the ETT temperature under constant oscillatory volume. In contrast, as the oscillatory volume was decreased, the difference in temperature in the ETT was greater under constant oscillatory frequency. Moreover, the temperature drop in the ETT with HFV was lower than that in the IPPV temperature with a similar respiratory volume. CONCLUSIONS: The temperature change in the ETT was not dependent on the oscillatory frequency when the oscillatory volume was fixed; however, the temperature was dependent on the oscillatory volume when the oscillatory frequency was fixed.
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Ventilación de Alta Frecuencia , Intubación Intratraqueal/instrumentación , Temperatura , Ventiladores Mecánicos , Humanos , Humidificadores , Ventilación con Presión Positiva Intermitente , Modelos BiológicosRESUMEN
BACKGROUND AND PURPOSE: A thrombosed dural sinus malformation (DSM) is a rare condition, the clinical features of which have not yet been completely characterized. Here, we describe the clinical course of a patient with a thrombosed DSM and discuss the outcomes in live birth cases from a review of the literature. CASE DESCRIPTION: An ultrasonography examination of a 32-year-old woman at 25 weeks' gestation indicated a fetal posterior fossa mass. The size of the intracranial mass remained constant during the second trimester and was observed to decrease from 33 weeks of gestation. A postnatal diagnosis of thrombosis in the dural sinus was established by magnetic resonance imaging and venography. No brain damage or hydrocephalus was noted. Although the circumference of the infant's head was enlarged at birth, her neurological outcome was normal at 1 year of age. CONCLUSIONS: Although normal cranial circumference is reportedly an essential factor for a favorable prognosis, the patient in this report with a cranial circumference at + 2.0 SD (35.6 cm) had a favorable prognosis. Further studies focused on improving clinical diagnostic accuracy in this rare entity will facilitate appropriate counseling.