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1.
BMJ ; 367: l6131, 2019 11 20.
Artigo em Inglês | MEDLINE | ID: mdl-31748223

RESUMO

OBJECTIVE: To evaluate if induction of labour at 41 weeks improves perinatal and maternal outcomes in women with a low risk pregnancy compared with expectant management and induction of labour at 42 weeks. DESIGN: Multicentre, open label, randomised controlled superiority trial. SETTING: 14 hospitals in Sweden, 2016-18. PARTICIPANTS: 2760 women with a low risk uncomplicated singleton pregnancy randomised (1:1) by the Swedish Pregnancy Register. 1381 women were assigned to the induction group and 1379 were assigned to the expectant management group. INTERVENTIONS: Induction of labour at 41 weeks and expectant management and induction of labour at 42 weeks. MAIN OUTCOME MEASURES: The primary outcome was a composite perinatal outcome including one or more of stillbirth, neonatal mortality, Apgar score less than 7 at five minutes, pH less than 7.00 or metabolic acidosis (pH <7.05 and base deficit >12 mmol/L) in the umbilical artery, hypoxic ischaemic encephalopathy, intracranial haemorrhage, convulsions, meconium aspiration syndrome, mechanical ventilation within 72 hours, or obstetric brachial plexus injury. Primary analysis was by intention to treat. RESULTS: The study was stopped early owing to a significantly higher rate of perinatal mortality in the expectant management group. The composite primary perinatal outcome did not differ between the groups: 2.4% (33/1381) in the induction group and 2.2% (31/1379) in the expectant management group (relative risk 1.06, 95% confidence interval 0.65 to 1.73; P=0.90). No perinatal deaths occurred in the induction group but six (five stillbirths and one early neonatal death) occurred in the expectant management group (P=0.03). The proportion of caesarean delivery, instrumental vaginal delivery, or any major maternal morbidity did not differ between the groups. CONCLUSIONS: This study comparing induction of labour at 41 weeks with expectant management and induction at 42 weeks does not show any significant difference in the primary composite adverse perinatal outcome. However, a reduction of the secondary outcome perinatal mortality is observed without increasing adverse maternal outcomes. Although these results should be interpreted cautiously, induction of labour ought to be offered to women no later than at 41 weeks and could be one (of few) interventions that reduces the rate of stillbirths. TRIAL REGISTRATION: Current Controlled Trials ISRCTN26113652.


Assuntos
Idade Gestacional , Doenças do Recém-Nascido , Trabalho de Parto Induzido , Conduta Expectante/estatística & dados numéricos , Adulto , Cesárea/estatística & dados numéricos , Feminino , Humanos , Lactente , Mortalidade Infantil , Recém-Nascido , Doenças do Recém-Nascido/epidemiologia , Doenças do Recém-Nascido/etiologia , Análise de Intenção de Tratamento , Trabalho de Parto Induzido/efeitos adversos , Trabalho de Parto Induzido/métodos , Trabalho de Parto Induzido/estatística & dados numéricos , Gravidez , Resultado da Gravidez/epidemiologia , Natimorto/epidemiologia , Suécia/epidemiologia , Nascimento a Termo
3.
BMJ ; 367: l5517, 2019 10 15.
Artigo em Inglês | MEDLINE | ID: mdl-31615781

RESUMO

OBJECTIVES: To investigate the effectiveness of routine ultrasonography in the third trimester in reducing adverse perinatal outcomes in low risk pregnancies compared with usual care and the effect of this policy on maternal outcomes and obstetric interventions. DESIGN: Pragmatic, multicentre, stepped wedge cluster randomised trial. SETTING: 60 midwifery practices in the Netherlands. PARTICIPANTS: 13 046 women aged 16 years or older with a low risk singleton pregnancy. INTERVENTIONS: 60 midwifery practices offered usual care (serial fundal height measurements with clinically indicated ultrasonography). After 3, 7, and 10 months, a third of the practices were randomised to the intervention strategy. As well as receiving usual care, women in the intervention strategy were offered two routine biometry scans at 28-30 and 34-36 weeks' gestation. The same multidisciplinary protocol for detecting and managing fetal growth restriction was used in both strategies. MAIN OUTCOME MEASURES: The primary outcome measure was a composite of severe adverse perinatal outcomes: perinatal death, Apgar score <4, impaired consciousness, asphyxia, seizures, assisted ventilation, septicaemia, meningitis, bronchopulmonary dysplasia, intraventricular haemorrhage, periventricular leucomalacia, or necrotising enterocolitis. Secondary outcomes were two composite measures of severe maternal morbidity, and spontaneous labour and birth. RESULTS: Between 1 February 2015 and 29 February 2016, 60 midwifery practices enrolled 13 520 women in mid-pregnancy (mean 22.8 (SD 2.4) weeks' gestation). 13 046 women (intervention n=7067, usual care n=5979) with data based on the national Dutch perinatal registry or hospital records were included in the analyses. Small for gestational age at birth was significantly more often detected in the intervention group than in the usual care group (179 of 556 (32%) v 78 of 407 (19%), P<0.001). The incidence of severe adverse perinatal outcomes was 1.7% (n=118) for the intervention strategy and 1.8% (n=106) for usual care. After adjustment for confounders, the difference between the groups was not significant (odds ratio 0.88, 95% confidence interval 0.70 to 1.20). The intervention strategy showed a higher incidence of induction of labour (1.16, 1.04 to 1.30) and a lower incidence of augmentation of labour (0.78, 0.71 to 0.85). Maternal outcomes and other obstetric interventions did not differ between the strategies. CONCLUSION: In low risk pregnancies, routine ultrasonography in the third trimester along with clinically indicated ultrasonography was associated with higher antenatal detection of small for gestational age fetuses but not with a reduced incidence of severe adverse perinatal outcomes compared with usual care alone. The findings do not support routine ultrasonography in the third trimester for low risk pregnancies. TRIAL REGISTRATION: Netherlands Trial Register NTR4367.


Assuntos
Doenças do Recém-Nascido , Ultrassonografia Pré-Natal , Adolescente , Índice de Apgar , Análise por Conglomerados , Feminino , Retardo do Crescimento Fetal/diagnóstico por imagem , Humanos , Incidência , Recém-Nascido , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/epidemiologia , Recém-Nascido Pequeno para a Idade Gestacional , Tocologia/métodos , Tocologia/estatística & dados numéricos , Países Baixos/epidemiologia , Mortalidade Perinatal , Gravidez , Resultado da Gravidez/epidemiologia , Terceiro Trimestre da Gravidez , Gravidez na Adolescência , Ultrassonografia Pré-Natal/métodos , Ultrassonografia Pré-Natal/estatística & dados numéricos
4.
Medicine (Baltimore) ; 98(41): e17521, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31593123

RESUMO

BACKGROUND: Previous studies have neglected to report the specific action of different probiotic genera in preterm infants. To evaluate the efficacy and safety of specific probiotic genera, we performed a network meta-analysis (NMA) to identify the best prevention strategy for necrotizing enterocolitis in preterm infants. METHODS: MEDLINE, PubMed, EMBASE, and the Cochrane Central Register of Controlled Trials had been searched for randomized control trials reporting the probiotics strategy for premature infants. RESULTS: We identified 34 eligible studies of 9161 participants. The intervention in the observation group was to add probiotics for feeding: Lactobacilli in 6 studies; Bifidobacterium in 8 studies; Bacillus in 1 study; Saccharomyces in 4 studies and probiotic mixture in 15 studies. This NMA showed a significant advantage of probiotic mixture and Bifidobacterium to prevent the incidence of necrotizing enterocolitis in preterm infants. A probiotic mixture showed effectiveness in reducing mortality in preterm infants. CONCLUSION: The recent literature has reported a total of 5 probiotic strategies, including Bacillus, Bifidobacterium, Lactobacillus, Saccharomyces, and probiotic mixture. Our thorough review and NMA provided a piece of available evidence to choose optimal probiotics prophylactic strategy for premature infants. The results indicated that probiotic mixture and Bifidobacterium showed a stronger advantage to use in preterm infants; the other probiotic genera failed to show an obvious effect to reduce the incidence of NEC, sepsis and all-cause death. More trials need to be performed to determine the optimal probiotic treatment strategy to prevent preterm related complications.


Assuntos
Enterocolite Necrosante/tratamento farmacológico , Enterocolite Necrosante/prevenção & controle , Doenças do Recém-Nascido/prevenção & controle , Probióticos/uso terapêutico , Bifidobacterium/fisiologia , Enterocolite Necrosante/epidemiologia , Humanos , Incidência , Lactente , Recém-Nascido , Doenças do Recém-Nascido/epidemiologia , Recém-Nascido Prematuro , Lactobacillus/fisiologia , Placebos/administração & dosagem , Cuidado Pré-Natal/métodos , Probióticos/administração & dosagem , Ensaios Clínicos Controlados Aleatórios como Assunto , Sepse/epidemiologia , Sepse/mortalidade , Resultado do Tratamento
5.
Int J Gynaecol Obstet ; 147(3): 404-412, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31479156

RESUMO

OBJECTIVE: To characterize the demographics, comorbidities, management, and outcomes of pregnant women with pre-gestational and gestational diabetes (GDM), including overt and true GDM, taking into account HIV infection and the influence of exposure to oral hypoglycemic agents (OHAs). METHODS: A review of medical records of 1071 diabetic pregnancies (between 2012 and 2018) at a tertiary hospital in South Africa. RESULTS: Of the women, 43% had GDM, 19% had type 1 diabetes (T1DM), and 38% had type 2 diabetes (T2DM). Each group had a mean initial body mass index (BMI) >25 kg/m2 . Despite poor initial HbA1c for pre-gestational groups, over 90% of the cohort achieved glycemic control by the time of delivery. The rate of prematurity was 30.9%. Perinatal mortality (PNM) was 5.1% for the pre-gestational group and 1.8% for GDM. Of the cohort, 23.9% was HIV infected. PNM was higher in the HIV-infected pregnancies (9.4%) than non-HIV exposed pregnancies (1.8%, P<0.001). The macrosomia rate was higher in the glibenclamide-exposed group than the insulin-alone group (12.2% vs 0%, P=0.025). CONCLUSION: Obesity is a significant predictor for macrosomia and was high in all groups. In a low-/middle-income country setting with a high prevalence of HIV and high usage of OHAs as an alternative to insulin therapy, HIV might be associated with higher PNM and glibenclamide with increased rates of macrosomia, which warrants further exploration.


Assuntos
Diabetes Gestacional/epidemiologia , Infecções por HIV/epidemiologia , Gravidez em Diabéticas/epidemiologia , Adulto , Estudos de Coortes , Estudos Transversais , Feminino , Macrossomia Fetal/epidemiologia , Macrossomia Fetal/etiologia , Humanos , Recém-Nascido , Doenças do Recém-Nascido/epidemiologia , Doenças do Recém-Nascido/etiologia , Recém-Nascido Prematuro , Mortalidade Perinatal , Gravidez , Estudos Retrospectivos , África do Sul/epidemiologia , Adulto Jovem
6.
PLoS Med ; 16(8): e1002904, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31469827

RESUMO

BACKGROUND: In Bangladesh, neonatal sepsis is the cause of 24% of neonatal deaths, over 65% of which occur in the early-newborn stage (0-6 days). Only 50% of newborns in Bangladesh initiated breastfeeding within 1 hour of birth. The mechanism by which early initiation of breastfeeding reduces neonatal deaths is unclear, although the most likely pathway is by decreasing severe illnesses leading to sepsis. This study explores the effect of breastfeeding initiation time on early newborn danger signs and severe illness. METHODS AND FINDINGS: We used data from a community-based trial in Bangladesh in which we enrolled pregnant women from 2013 through 2015 covering 30,646 newborns. Severe illness was defined using newborn danger signs reported by The Young Infants Clinical Science Study Group. We categorized the timing of initiation as within 1 hour, 1 to 24 hours, 24 to 48 hours, ≥48 hours of birth, and never breastfed. The analysis includes descriptive statistics, risk attribution, and multivariable mixed-effects logistic regression while adjusting for the clustering effects of the trial design, and maternal/infant characteristics. In total, 29,873 live births had information on breastfeeding among whom 19,914 (66.7%) initiated within 1 hour of birth, and 4,437 (14.8%) neonates had a severe illness by the seventh day after birth. The mean time to initiation was 3.8 hours (SD 16.6 hours). The proportion of children with severe illness increased as the delay in initiation increased from 1 hour (12.0%), 24 hours (15.7%), 48 hours (27.7%), and more than 48 hours (36.7%) after birth. These observations would correspond to a possible reduction by 15.9% (95% CI 13.2-25.9, p < 0.001) of severe illness in a real world population in which all newborns had breastfeeding initiated within 1 hour of birth. Children who initiated after 48 hours (odds ratio [OR] 4.13, 95% CI 3.48-4.89, p < 0.001) and children who never initiated (OR 4.77, 95% CI 3.52-6.47, p < 0.001) had the highest odds of having severe illness. The main limitation of this study is the potential for misclassification because of using mothers' report of newborn danger signs. There could be a potential for recall bias for mothers of newborns who died after being born alive. CONCLUSIONS: Breastfeeding initiation within the first hour of birth is significantly associated with severe illness in the early newborn period. Interventions to promote early breastfeeding initiation should be tailored for populations in which newborns are delivered at home by unskilled attendants, the rate of low birth weight (LBW) is high, and postnatal care is limited. TRIAL REGISTRATION: Trial Registration number: anzctr.org.au ID ACTRN12612000588897.


Assuntos
Aleitamento Materno/estatística & dados numéricos , Doenças do Recém-Nascido/epidemiologia , Doença Aguda , Fatores Etários , Bangladesh/epidemiologia , Feminino , Humanos , Lactente , Mortalidade Infantil , Recém-Nascido , Doenças do Recém-Nascido/mortalidade , Doenças do Recém-Nascido/prevenção & controle , Masculino , População Rural/estatística & dados numéricos , Adulto Jovem
7.
Handb Clin Neurol ; 162: 347-361, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31324320

RESUMO

The first weeks of life are a time of heightened risk for seizures due to age-dependent physiologic features of the developing brain that lead to increased neuronal excitation and decreased inhibition. Usually, seizures in neonates are a symptom of an acute brain injury; seizures are only rarely due to neonatal-onset epilepsy syndromes. Neonatal seizures are harmful to the developing brain; early and accurate diagnosis is critical. For suspected seizures, EEG monitoring should be initiated as soon as is feasible, in order to evaluate for events of concern, screen for subclinical seizures, and assess the EEG background. Amplitude-integrated EEG can provide excellent complementary data, particularly with regard to evolution of background patterns, but has limited sensitivity to detect individual neonatal seizures. An urgent and systematic approach to precise etiologic diagnosis is key for optimal management and estimates of prognosis. Evaluation of the seizure etiology must occur in parallel with initiation of appropriate treatment. It is critical that neonatologists and neurologists develop hospital-specific, consensus-based practice pathways for neonatal seizure evaluation and treatment. Such practice pathways can streamline medical decision making, facilitate rapid medication administration, and potentially decrease seizure burden and optimize outcomes. Herein, the pathophysiology, epidemiology, treatment, and long-term management considerations for neonatal seizures are presented.


Assuntos
Convulsões/classificação , Convulsões/congênito , Adulto , Eletroencefalografia , Feminino , Humanos , Recém-Nascido , Doenças do Recém-Nascido/classificação , Doenças do Recém-Nascido/epidemiologia , Doenças do Recém-Nascido/terapia , Gravidez , Convulsões/epidemiologia , Convulsões/terapia
8.
BMC Pregnancy Childbirth ; 19(1): 249, 2019 Jul 16.
Artigo em Inglês | MEDLINE | ID: mdl-31311547

RESUMO

BACKGROUND: In April 2012 our institution chose to switch from a two- step criteria for Gestational Diabetes Mellitus (GDM) screening, to the International Association of Diabetes in Pregnancy Study Group (IADSPG) criteria. This shift led to an increased prevalence of GDM in our pregnant population. We designed a study in order to estimate the magnitude of the increase in GDM prevalence before and after the switch in screening strategy. As a secondary objective we wanted to evaluate if there was a significant difference between the two periods in the percentage of maternal and neonatal complications such as gestational hypertensive disorders (GHD), primary cesarean section (pCS), preterm birth, large for gestational age (LGA) newborns, macrosomia, shoulder dystocia, 5' Apgar score less than to 7 at birth, neonatal intensive care unit (NICU) transfer and neonatal hypoglycemia. METHODS: We selected retrospectively 3496 patients who delivered between January 2009 and December 2011 who were screened with the two-step criteria (group A), and compared them to 2555 patients who delivered between January 2013 and December 2014 and who were screened with IADPSG criteria (Group B). We checked patients' electronic files to establish GDM status, baseline characteristics (age, body mass index, nationality, parity) and the presence of maternal and neonatal complications. RESULTS: GDM prevalence increased significantly from group A (3.4%; 95%CI 2.8-4.06%) to group B (16.28%; 95%CI 14.8 -17.7%). In group B there were significantly more non-Belgian and primiparous patients. There was no statistically significant difference in maternal and neonatal complications between the two groups, even after adjustment for nationality and parity. There was a non-significant reduction of the proportion of macrosomic and of LGA babies. CONCLUSIONS: In our population the introduction of IADPSG screening criteria has increased the prevalence of GDM without having a statistically significant impact on pregnancy outcomes.


Assuntos
Diabetes Gestacional , Programas de Triagem Diagnóstica , Doenças do Recém-Nascido/epidemiologia , Programas de Rastreamento , Complicações do Trabalho de Parto/epidemiologia , Adulto , Bélgica/epidemiologia , Diabetes Gestacional/diagnóstico , Diabetes Gestacional/epidemiologia , Programas de Triagem Diagnóstica/normas , Programas de Triagem Diagnóstica/estatística & dados numéricos , Feminino , Humanos , Recém-Nascido , Doenças do Recém-Nascido/classificação , Masculino , Programas de Rastreamento/métodos , Programas de Rastreamento/organização & administração , Complicações do Trabalho de Parto/classificação , Gravidez , Resultado da Gravidez/epidemiologia , Cuidado Pré-Natal/métodos , Cuidado Pré-Natal/normas , Prevalência , Estudos Retrospectivos
9.
Indian J Public Health ; 63(2): 128-132, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31219061

RESUMO

Background: To reduce neonatal mortality in North Bihar, evidence is required about the impact of sick newborn care units (SNCUs) in secondary level hospitals on mortality at the end of the neonatal period. Objectives: The objective of the study is to assess the profile of neonates admitted to an SNCU and the outcome at the completion of neonatal period. Methods: A cohort of neonates admitted from March to June 2014 to an SNCU was assessed through family interviews and hospital records. Demographic details (age, sex, and socioeconomic status) and clinical details (antenatal care, birthplace, weight, diagnosis, and family history) were documented. Follow-up was done at discharge or death or referral and the completion of neonatal period. The primary outcome was survival at the completion of neonatal period. Secondary outcomes were case fatality rate at discharge and weight gain. Results: Of 210 neonates assessed, 87.6% (95% confidence interval [CI] 82.4-91.4) survived till the end of the neonatal period. The case fatality rate at the time of discharge was 0.9% (95% CI 0.3-3.4). Majority of the diagnoses were infections, hyperbilirubinemia, and infant of diabetic mother. Mean weight gain at the end of neonatal period (n = 157) was 706 g (P = 0.00). Sex ratio at admission was 567 girls to 1000 boys (95% CI 428/1000-751/1000). No neonate from lower socioeconomic families was admitted. Conclusions: SNCUs in remote areas can bring down neonatal mortality in North Bihar. Unequal access of SNCUs services to girls and lower socioeconomic groups highlighted the existing barriers which require attention.


Assuntos
Unidades de Terapia Intensiva Neonatal/estatística & dados numéricos , Centros de Cuidados de Saúde Secundários/estatística & dados numéricos , Feminino , Humanos , Índia/epidemiologia , Recém-Nascido , Doenças do Recém-Nascido/epidemiologia , Doenças do Recém-Nascido/mortalidade , Masculino , Admissão do Paciente/estatística & dados numéricos , Fatores de Risco , Fatores Socioeconômicos , Resultado do Tratamento
10.
Int J Infect Dis ; 86: 31-39, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31207385

RESUMO

OBJECTIVES: Little is known about the birth prevalence and characteristics of congenital cytomegalovirus (CMV) infection in developing countries. To determine the prevalence and characteristics of congenital CMV infection in Indonesia, we conducted a prospective study in an urban birth cohort of neonates at a national referral hospital in 2016-2017, Jakarta, Indonesia. METHODS: Consecutively born neonates were screened for the presence of CMV by using pan-herpesvirus nested-PCR and Sanger sequencing in saliva and/or urine specimens. Both the neonatal clinical findings as well as maternal characteristics were also evaluated. RESULTS: From a total of 411 newborns screened, congenital CMV infection was confirmed in 5.8% of the neonates. These CMV-positive newborns were more likely to have ventriculomegaly and thrombocytopenia compared to CMV-negative neonates. Notably, 67% CMV-positive neonates in our study had clinical findings that required medical intervention, from which only nine presented with symptoms suggestive of congenital CMV infection. Furthermore, congenital CMV infected babies were almost four times more likely to be born to mothers that had placenta previa and placental abruption. CONCLUSIONS: Our work highlights the high prevalence of congenital CMV infection in neonates born in one of the biggest referral hospitals in metropolitan Jakarta, Indonesia.


Assuntos
Infecções por Citomegalovirus/virologia , Citomegalovirus/fisiologia , Doenças do Recém-Nascido/virologia , Adulto , Citomegalovirus/genética , Citomegalovirus/isolamento & purificação , Infecções por Citomegalovirus/congênito , Infecções por Citomegalovirus/epidemiologia , Feminino , Humanos , Indonésia/epidemiologia , Recém-Nascido , Doenças do Recém-Nascido/epidemiologia , Masculino , Reação em Cadeia da Polimerase , Gravidez , Complicações Infecciosas na Gravidez/epidemiologia , Prevalência , Estudos Prospectivos , Saliva/virologia
11.
Rev Bras Ter Intensiva ; 31(2): 186-192, 2019 May 23.
Artigo em Português, Inglês | MEDLINE | ID: mdl-31141086

RESUMO

OBJECTIVE: To describe the characteristics of the heel prick test in newborns admitted to the intensive care unit of a university hospital as well as to determine whether maternal and fetal conditions could have affected the results of this test. METHODS: Retrospective longitudinal study with a quantitative approach that evaluated 240 medical records. The data collected were analyzed by descriptive statistical analysis. RESULTS: There was a predominance of pregnant women aged 20 to 34 years who had a complete secondary education and who had more than six prenatal care visits. Maternal complications or pathologies occurred in 60% of the mothers, and most (67.5%) did not present any condition that could have affected the heel prick test results. Most newborns were premature and exhibited low birth weight. Approximately 90% of newborns exhibited conditions that could have influenced the test, especially prematurity, parenteral nutrition and blood transfusion. Of the 240 newborns, 25% had abnormal heel prick test results, especially for cystic fibrosis and congenital adrenal hyperplasia. CONCLUSION: There are maternal and neonatal conditions that can affect heel prick test results, and therefore, their investigation is essential, aiming to guide measures that promote mother and child health and consolidate neonatal screening in this population.


Assuntos
Doenças do Recém-Nascido/diagnóstico , Unidades de Terapia Intensiva Neonatal , Triagem Neonatal/métodos , Complicações na Gravidez/epidemiologia , Adolescente , Adulto , Feminino , Calcanhar , Humanos , Recém-Nascido de Baixo Peso , Recém-Nascido , Doenças do Recém-Nascido/epidemiologia , Recém-Nascido Prematuro , Estudos Longitudinais , Gravidez , Cuidado Pré-Natal/estatística & dados numéricos , Estudos Retrospectivos , Adulto Jovem
12.
J Pediatr Endocrinol Metab ; 32(6): 607-613, 2019 Jun 26.
Artigo em Inglês | MEDLINE | ID: mdl-31141482

RESUMO

Background Wolcott-Rallison syndrome is a rare autosomal recessive disorder characterized by neonatal/early-onset non-autoimmune insulin-dependent diabetes, multiple epiphyseal dysphasia and growth retardation. It is caused by mutations in the gene encoding eukaryotic translation initiation factor 2α kinase 3 (EIF2AK3). We aimed to study the clinical characteristics and frequency of the disease in the Iranian population. Methods We recruited 42 patients who referred to the endocrine and metabolism clinic at Mashhad Imam Reza Hospital with neonatal diabetes. Molecular screening of KCNJ11, INS, ABCC8 and EIF2AK3 was performed at the Exeter Molecular Genetics Laboratory, UK. We calculated the frequency of the disease in 124 patients referred from Iran to the Exeter Molecular Genetics Laboratory for genetic screening and compared it to other countries worldwide. Results We identified seven patients as having Wolcott-Rallison syndrome. Genetic testing confirmed the clinical diagnosis and indicated five novel mutations. Only two patients developed clinical features of the syndrome by 6 months of age. Of all 124 cases of Iranian neonatal diabetes referred to the Exeter Molecular Genetics Laboratory for genetic screening, 28 patients (22.58%) had a recessive mutation in EIF2AK3. Conclusions The results of this study raises awareness of the condition and provides further accurate data on the genetic and clinical presentation of Wolcott-Rallison syndrome in the Iranian population. Our study highlights the importance of genetic testing in patients from consanguineous families with diabetes diagnosed within the first 6 months of life.


Assuntos
Biomarcadores/análise , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus/etiologia , Epífises/anormalidades , Doenças do Recém-Nascido/etiologia , Osteocondrodisplasias/complicações , eIF-2 Quinase/genética , Criança , Pré-Escolar , Consanguinidade , Diabetes Mellitus/diagnóstico , Diabetes Mellitus/epidemiologia , Feminino , Humanos , Recém-Nascido , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/epidemiologia , Irã (Geográfico)/epidemiologia , Masculino , Mutação , Prognóstico
13.
Anesthesiology ; 131(2): 238-253, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31094750

RESUMO

BACKGROUND: The number of pregnancy-related deaths and severe maternal complications continues to rise in the United States, and the quality of obstetrical care across U.S. hospitals is uneven. Providing hospitals with performance feedback may help reduce the rates of severe complications in mothers and their newborns. The aim of this study was to develop a risk-adjusted composite measure of severe maternal morbidity and severe newborn morbidity based on administrative and birth certificate data. METHODS: This study was conducted using linked administrative data and birth certificate data from California. Hierarchical logistic regression prediction models for severe maternal morbidity and severe newborn morbidity were developed using 2011 data and validated using 2012 data. The composite metric was calculated using the geometric mean of the risk-standardized rates of severe maternal morbidity and severe newborn morbidity. RESULTS: The study was based on 883,121 obstetric deliveries in 2011 and 2012. The rates of severe maternal morbidity and severe newborn morbidity were 1.53% and 3.67%, respectively. Both the severe maternal morbidity model and the severe newborn models exhibited acceptable levels of discrimination and calibration. Hospital risk-adjusted rates of severe maternal morbidity were poorly correlated with hospital rates of severe newborn morbidity (intraclass correlation coefficient, 0.016). Hospital rankings based on the composite measure exhibited moderate levels of agreement with hospital rankings based either on the maternal measure or the newborn measure (κ statistic 0.49 and 0.60, respectively.) However, 10% of hospitals classified as average using the composite measure had below-average maternal outcomes, and 20% of hospitals classified as average using the composite measure had below-average newborn outcomes. CONCLUSIONS: Maternal and newborn outcomes should be jointly reported because hospital rates of maternal morbidity and newborn morbidity are poorly correlated. This can be done using a childbirth composite measure alongside separate measures of maternal and newborn outcomes.


Assuntos
Declaração de Nascimento , Parto Obstétrico/estatística & dados numéricos , Mortalidade Infantil , Doenças do Recém-Nascido/epidemiologia , Mortalidade Materna , Transtornos Puerperais/epidemiologia , Adolescente , Adulto , California , Feminino , Humanos , Lactente , Recém-Nascido , Pessoa de Meia-Idade , Gravidez , Adulto Jovem
14.
Malawi Med J ; 31(1): 77-81, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-31143401

RESUMO

Background: Delayed presentation might affect the ultimate management of children with congenital bowel obstructive bowel anomalies (CBA). We evaluated the profile, challenges of treatment and outcome of CBA presenting after neonatal age. Methods: We did a retrospective analysis of data of children with CBA presenting after neonatal age from January 2013 to November 2017. We used the Statistical Package for Social Sciences (SPSS) for data entry and analysis. Results: There were 57 cases in total comprising of Hirschsprung's disease (HD; 37 cases), anorectal malformation (ARM; 15 cases), and duodeno-jejunal web (5 cases), with median age of 9 months (IQR 4 months - 2 years) on presentation. Overall, 52 (91.2%) patients had one or more complications on presentation. Definitive procedure did not differ from established operations, but only 9 (15.8%) had primary procedures and 48 (84.2%) cases required multi-stage treatment. After an average follow up period of 19.5 months (range: 1-45 months), 18 (31.6%) cases developed procedure-related complications and 3 (5.3%) had residual bowel dysfunction, but there was no mortality. The morbidity was limited to cases with HD and ARM. Conclusion: In our setting, HD is the commonest bowel anomaly that presents after the neonatal age. The delayed presentation may predispose to complications and preclude single-stage treatment in some cases. Training of healthcare providers to improve recognition and early referral of these anomalies may lead to early diagnosis and minimize morbidity.


Assuntos
Malformações Anorretais/epidemiologia , Diagnóstico Tardio , Doença de Hirschsprung/epidemiologia , Doenças do Recém-Nascido/etiologia , Obstrução Intestinal/congênito , Obstrução Intestinal/epidemiologia , Intestino Delgado/anormalidades , Malformações Anorretais/diagnóstico , Pré-Escolar , Feminino , Doença de Hirschsprung/diagnóstico , Hospitais de Ensino , Humanos , Lactente , Recém-Nascido , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/epidemiologia , Obstrução Intestinal/etiologia , Malaui/epidemiologia , Masculino , Estudos Retrospectivos
15.
Hypertens Pregnancy ; 38(2): 111-118, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30939965

RESUMO

OBJECTIVE: To evaluate impact of 24-h proteinuria level in preeclampsia on maternal/perinatal outcomes. METHODS: Singleton pregnancies with preeclampsia delivered after 24 weeks of gestation were included. Patients were divided into mild (0.3 to <2 g) (n=72), severe (2 to <5 g) (n=30), and massive (≥5 g) (n=24) proteinuria groups, and cut-off values of 24-h proteinuria for composite adverse maternal and neonatal outcomes were calculated. RESULTS: Twenty-four hour  proteinuria level cut-offs for composite adverse outcomes were 3275 mg (72.2% sensitivity, 85.6% specificity) and 2395 mg (72.7% sensitivity, 78% specificity) respectively. CONCLUSION: Severe and massive proteinuria were related to poor maternal, perinatal, and neonatal outcomes.


Assuntos
Pré-Eclâmpsia/urina , Proteinúria/epidemiologia , Adulto , Feminino , Humanos , Recém-Nascido , Doenças do Recém-Nascido/epidemiologia , Pré-Eclâmpsia/epidemiologia , Valor Preditivo dos Testes , Gravidez , Resultado da Gravidez/epidemiologia , Proteinúria/etiologia , Estudos Retrospectivos , Turquia/epidemiologia
17.
PLoS One ; 14(4): e0214295, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30946761

RESUMO

BACKGROUND: Intrapartum antibiotic prophylaxis (IAP) to reduce the likelihood of neonatal early-onset group B streptococcal infection (EOGBS) has coincided with major reductions in incidence. While the decline has been largely ascribed to IAP following either universal screening or a risk-based approach to identify mothers whose babies may most benefit from IAP, there is lack of high quality evidence to support this view. AIMS: To describe management of maternal GBS colonisation in one local health district using universal screening and assess rates of EOGBS over time. METHODS: A retrospective cohort study was undertaken to describe compliance with GBS management, to determine the incidence of EOGBS and association between rates and maternal screening. Linking routinely collected maternity and pathology data, we explored temporal trends using logistic regression and covariates for potential effect modifiers. RESULTS: Our cohort included 62,281 women who had 92,055 pregnancies resulting in 93,584 live born babies. Screening occurred in 76% of pregnancies; 69% had a result recorded, 21.5% of those were positive for GBS. Prophylaxis was used by 79% of this group. Eighteen babies developed EOGBS, estimated incidence/1000 live births in 2006 and 2016 was 0.35 (95% CI, 0.07 to 0.63) and 0.1 (95% CI, 0 to 0.2) respectively. Seven of 10 term babies with EOGBS were born to mothers who screened negative. Data were unable to provide evidence of difference in rates of EOGBS between screened and unscreened pregnancies. We estimated the difference in EOGBS incidence from crude and weighted models to be 0 (95% CI, -0. 2 to 0.17) and -0.01 (95% CI, -0.13 to 0.10) /1000 live births respectively. CONCLUSION: No change was detected in rates of EOGBS over time and no difference in EOGBS in babies of screened and unscreened populations. Screening and prophylaxis rates were modest. Limitations of universal screening suggest alternatives be considered.


Assuntos
Antibioticoprofilaxia , Doenças do Recém-Nascido/epidemiologia , Doenças do Recém-Nascido/microbiologia , Triagem Neonatal , Infecções Estreptocócicas/epidemiologia , Streptococcus agalactiae/fisiologia , Idade de Início , Austrália/epidemiologia , Feminino , Humanos , Recém-Nascido , Doenças do Recém-Nascido/mortalidade , Gravidez , Nascimento Prematuro/microbiologia , Nascimento Prematuro/mortalidade , Infecções Estreptocócicas/diagnóstico , Infecções Estreptocócicas/microbiologia , Infecções Estreptocócicas/mortalidade
18.
Reumatol. clín. (Barc.) ; 15(2): 109-112, mar.-abr. 2019. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-184358

RESUMO

El síndrome de Sjögren primario (SSp) afecta preferentemente al sexo femenino. Los informes sobre la evolución de los embarazos en estas pacientes son pocos y contradictorios. Objetivo: Describir las características del embarazo y su desenlace en mujeres con SSp, así como la morbilidad del recién nacido. Material y métodos: Se incluyeron pacientes con SSp que quedaron embarazadas luego del comienzo de los síntomas de dicha enfermedad. Se describieron las características clínicas y serológicas, los factores de riesgo y las comorbilidades maternas previas. Se detalló la evolución de cada embarazo, el desenlace y las características del recién nacido. Resultados: Se evaluaron 11 pacientes con 18 embarazos posteriores al inicio de síntomas: todas presentaban FAN+; 10 anti-Ro/SSA+ y 7 anti-La/SSB+. El promedio de edad en años al inicio de los síntomas fue de 24,9 (DE 6,9) y al momento del embarazo fue de 30,3 (DE 5,4). Hubo 13 embarazos previos al diagnóstico, reportándose solo un aborto espontáneo. Después de la presentación del SSp, se informaron: 2 partos prematuros, un oligoamnios, 2 roturas prematuras de membranas y 2 recién nacidos con bajo peso al nacer. Se halló un caso con bloqueo cardíaco congénito y otro con lupus cutáneo neonatal. Todas las mujeres con complicaciones obstétricas (6) presentaban Ac anti-Ro/SSA+, 5 con Ac anti-La/SSB+. Quienes no tuvieron complicaciones (5): 2 presentaban anti-Ro/SSA y anti-La/SSB+, y 2 solo anti-Ro/SSA. Conclusiones: Casi la mitad de los embarazos de las pacientes con SSp analizados presentaron alguna complicación no atribuible a otro factor distinto de su enfermedad de base


Primary Sjögren's syndrome (pSS) is a condition that predominantly affects women. Reports of pregnancy outcome in these patients are limited and contradictory. Objective: To describe pregnancy characteristics and outcomes and newborn morbidity in women with pSS. Material and methods: We included women with pSS who became pregnant after the onset of the symptoms of the disease. Clinical and serological characteristics, risk factors and previous maternal comorbidities are described. For each pregnancy in a woman with pSS, we recorded pregnancy course and outcome and newborn condition. Results: We assessed 11 patients with 18 pregnancies after the onset of pSS symptoms. All of them presented FAN +; 10 anti-Ro / SSA + and 7 anti-La / SSB +. The mean age in years at the onset of symptoms was 24.9 (SD 6.9) and at the time of pregnancy was 30.3 (SD 5.4). Thirteen pregnancies happened before the diagnosis, reporting only one miscarriage. Two preterm births, 1 case of oligohydramnios, 2 of premature membrane rupture and 2 low birthweight babies were reported after the onset of pSS symptoms. There was 1 newborn with congenital atrioventricular block and another with neonatal cutaneous lupus. All the women with pregnancy complications (n=6) had anti-Ro/SSA antibodies. Conclusions: Almost half of the pregnancies assessed in women with pSS were associated with complications not attributable to factors other than the disease


Assuntos
Humanos , Feminino , Gravidez , Adolescente , Adulto Jovem , Adulto , Síndrome de Sjogren/complicações , Complicações na Gravidez/epidemiologia , Resultado da Gravidez/epidemiologia , Doenças do Recém-Nascido/epidemiologia , Bloqueio Cardíaco/congênito , Estudos Retrospectivos
19.
Fertil Steril ; 111(5): 962-970, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30922644

RESUMO

OBJECTIVE: To compare the neonatal outcomes of very low birth weight (VLBW) infants born after IVF with those of VLBW infants born after natural pregnancy (NP). DESIGN: Prospective cohort study. SETTING: Not applicable. PATIENT(S): A total of 6,871 VLBW infants born from January 2014 to December 2016. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Neonatal mortality and morbidities. RESULT(S): Of the 6,871 VLBW infants enrolled, 4,438 infants were born as singletons (IVF = 271; NP = 4,167), and 2,433 infants were born as multiplets (IVF = 1,301; NP = 1,132). After adjustment for maternal and neonatal baseline characteristics, infants born as singletons earlier than 28 weeks after IVF more frequently had high-stage retinopathy of prematurity than those born after NP, whereas infants born as multiplets between 28 and 31 weeks after IVF had fewer major congenital anomalies, high-grade intraventricular hemorrhage, and periventricular leukomalacia than those born after NP. Otherwise, no differences in mortality and neonatal outcomes were found. CONCLUSION(S): Very low birth weight infants born as singletons after IVF had comparable neonatal outcomes to those born after NP, except for an increased risk of high-stage retinopathy of prematurity. Very low birth weight infants born as multiplets after IVF had fewer neurologic morbidities than those born after NP.


Assuntos
Fertilização In Vitro/tendências , Fertilização/fisiologia , Doenças do Recém-Nascido/diagnóstico , Recém-Nascido de muito Baixo Peso/fisiologia , Adulto , Estudos de Coortes , Feminino , Fertilização In Vitro/efeitos adversos , Humanos , Recém-Nascido , Doenças do Recém-Nascido/epidemiologia , Doenças do Recém-Nascido/genética , Masculino , Gravidez , Estudos Prospectivos
20.
Hum Genet ; 138(4): 389-409, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30887117

RESUMO

Incidence rates of Mendelian diseases vary among ethnic groups, and frequencies of variant types of causative genes also vary among human populations. In this study, we examined to what extent we can predict population frequencies of recessive disorders from genomic data, and explored better strategies for variant interpretation and classification. We used a whole-genome reference panel from 3552 general Japanese individuals constructed by the Tohoku Medical Megabank Organization (ToMMo). Focusing on 32 genes for 17 congenital metabolic disorders included in newborn screening (NBS) in Japan, we identified reported and predicted pathogenic variants through variant annotation, interpretation, and multiple ways of classifications. The estimated carrier frequencies were compared with those from the Japanese NBS data based on 1,949,987 newborns from a previous study. The estimated carrier frequency based on genomic data with a recent guideline of variant interpretation for the PAH gene, in which defects cause hyperphenylalaninemia (HPA) and phenylketonuria (PKU), provided a closer estimate to that by the observed incidence than the other methods. In contrast, the estimated carrier frequencies for SLC25A13, which causes citrin deficiency, were much higher compared with the incidence rate. The results varied greatly among the 11 NBS diseases with single responsible genes; the possible reasons for departures from the carrier frequencies by reported incidence rates were discussed. Of note, (1) the number of pathogenic variants increases by including additional lines of evidence, (2) common variants with mild effects also contribute to the actual frequency of patients, and (3) penetrance of each variant remains unclear.


Assuntos
Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/genética , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/genética , Triagem Neonatal/métodos , Grupo com Ancestrais do Continente Asiático/genética , Grupo com Ancestrais do Continente Asiático/estatística & dados numéricos , Estudos de Coortes , Feminino , Frequência do Gene , Doenças Genéticas Inatas/epidemiologia , Estudo de Associação Genômica Ampla/normas , Heterozigoto , Humanos , Incidência , Recém-Nascido , Doenças do Recém-Nascido/epidemiologia , Japão/epidemiologia , Masculino , Padrões de Referência
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