Risk of birth defects in children of mothers with defects.

BACKGROUND: There is evidence that women with congenital anomalies are at risk of having an infant with the same defect. However, the risk of having an infant with a different type of defect is less well described. AIMS: We evaluated the extent to which offspring of women with congenital anomalies were at risk of having a birth defect, including defects that were similar to or different from their mother's. METHODS: We analyzed a retrospective cohort of 1,311,532 infants born in Canada between 2006 and 2022. The exposure was a maternal congenital anomaly, and the outcome included birth defects in the newborn. We estimated risk ratios (RR) and confidence intervals (CI) for the association of specific maternal anomalies with the risk of having an infant with a similar or different defect using log-binomial regression models adjusted for patient characteristics. RESULTS: While mothers with anomalies were at risk of having an infant with the same defect, associations with other types of defects were not as strong. For example, compared with no maternal anomaly, maternal urogenital defects were associated with up to 45 times the risk of having an infant with a similar urogenital defect (RR 45.33, 95 % CI 31.92-64.36), but <2 times the risk of having an infant with orofacial clefts (RR 1.89, 95 % CI 1.07-3.34) and clubfoot (RR 1.36, 95 % CI 1.02-1.81). CONCLUSION: The findings suggest that maternal congenital anomalies are only weakly associated with occurrence of a different type of defect in offspring.

Ocular manifestation of vertical transmission of dengue: case report / Manifestação ocular de transmissão vertical de dengue: relato de caso

ABSTRACT A 7-week-old male delivered by cesarean section presented with a positive serology for dengue along with preretinal and retinal hemorrhages, vitreous opacities and cotton wool spots. The patient and his mother had positive serologies for Non Structural Protein 1 (NS1) by ELISA. Retinal and vitreous findings improved over a sixteen-week period. Spectral domain optical coherence tomography (OCT) showed preserved macular architecture. In this case report, we suggest that retinal and vitreous changes may be the ocular presenting features of vertically transmitted dengue in newborns, and that those findings may resolve with no major structural sequelae.

RESUMO Neonato de 7 semanas, do sexo masculino, nascido de parto cesárea, apresentou sorologia positiva para dengue com hemorragias retinianas e pré-retinianas, opacidades vítreas e manchas algodonosas. O paciente e sua mãe haviam apresentado sorologias positivas para Non Structural Protein 1 através de ELISA. Achados na retina e no vítreo melhoraram em um período de dezesseis semanas. O exame de tomografia de coerência óptica de domínio espectral demonstrou arquitetura macular preservada. Neste relato de caso, sugerimos que alterações na retina e no vítreo podem ser os achados oculares aparentes em neonatos com infecção vertical por dengue, e que estes podem se resolver sem maiores sequelas estruturais.

Progress of newborn screening in China. / 中国新生儿筛查进展.

Newborn screening (NBS) plays a significant role in reducing the risk of birth defects. NBS in China began in the early 1980s. Under the protection of laws and regulations and the leadership of the national health administration, approved screening centers in public hospitals took the responsibility for publicity, screening, diagnosis, treatment, follow-up and management of birth defects. As of 2022, 31 provinces (autonomous regions and municipalities directly under the central government) have carried out NBS for phenylketonuria, congenital hypothyroidism, and hearing loss, 23 provinces have carried out screening for glucose-6-phosphate dehydrogenase (with a screening rate of 89.24%), and 24 provinces have carried out screening for congenital adrenal cortical hyperplasia (91.45% screening rate). Over the past four decades, screening techniques have evolved from bacterial inhibition, fluorescence analysis, and tandem mass spectrometry for the detection of biochemical markers to genetic testing, which has greatly contributed to the expansion of the types of diseases screened for. The combined use of metabolomics and genomics is currently being explored. Effective management and rigorous quality control of NBS are prerequisites for improving the quality and ensuring the accuracy of screening. The Quality Management System for Newborn Screening System Network (QMS-NBS), established by the National Center for Clinical Laboratories, covers all screening centers and related blood collection agencies. The operation of the QMS-NBS allows the quality and performance of screening to be transparent and measurable, ensuring the quality and efficiency of screening. This article provides an overview of the history of NBS, especially the evolution of policies for the NBS in China, the construction of screening institutions, the number of newborns screened, the incidence rates of screened diseases, the changes in screening technology, the expansion of new diseases screened for, and the quality control of NBS. Overall, the progress in NBS in China has not only benefited from the development and standardization at the technological level, but also benefited from the construction of policies, regulations and ethics.

Molecular diagnosis of tuberous sclerosis complex in fetuses and infants: an institutional case series.

OBJECTIVE: We describe the clinical and genetic characteristics of fetuses and infants diagnosed with tuberous sclerosis complex (TSC) in our centre, prenatally or neonatally, for a better understanding of the benefits of early screening. METHODS: In this retrospective study, we analysed the data on one fetus and nine infants with a definitive TSC diagnosis by genetic criteria (five patients carrying TSC1 variants and 5 patients carrying TSC2 variants). We explored the differences between phenotypes of patients carrying TSC1 and TSC2 pathogenic variants. RESULTS: The most common initial presenting features of TSC were cardiac rhabdomyomas (CRs) that were observed in nine out of ten patients. The most common postnatal features, besides CR, were presented with subependymal nodules-in five patients, and hypomelanotic macules-in four patients. In total, 10 variants causing TSC were detected in this study, including 5 novel variants. We demonstrated that patients with TSC2 variants had earlier onset and more severe clinical manifestations compared with patients carrying TSC1 variants. CONCLUSION: Early diagnosis of TSC improves genetic counselling and perinatal management.

Características clínicas de la mortalidad neonatal en un hospital de tercer nivel del Paraguay: un estudio observacional retrospectivo

Introducción: La mortalidad neonatal sigue siendo un importante problema de salud pública en todo el mundo, especialmente en países en desarrollo. La mayoría de las muertes neonatales son atribuibles a complicaciones prevenibles, como la prematuridad, la sepsis neonatal y la asfixia al nacer. Objetivo: Determinar las características clínicas de la mortalidad neonatal en un hospital de tercer nivel del Paraguay mediante un estudio observacional retrospectivo. Metodología: El presente estudio es de diseño observacional, descriptivo y retrospectivo, se realizó en el Hospital de Clínicas de Paraguay. Este diseño permitió obtener información de los registros médicos de los recién nacidos atendidos en el hospital durante un período de cinco años. Resultados: En el periodo comprendido entre el 2018 y el 2022, se registraron un total de 131 casos de mortalidad neonatal en el Hospital de Clínicas del Paraguay. El peso medio al nacer de 2009,5 ± 991,4 kilogramos y una edad gestacional media de 32,87 ± 4,5 semanas. Los diagnósticos de óbito más frecuentes en los neonatos fueron sepsis (37 casos), afectación cardiaca (61 casos) y síndrome genético (39 casos). Discusión: Los datos obtenidos del estudio sugieren que existen factores de riesgo maternos y neonatales que están vinculados con la mortalidad neonatal en el Hospital de Clínicas del Paraguay. Se necesitan estudios posteriores que permitan profundizar en el análisis de estos factores y que permitan el desarrollo de estrategias preventivas para disminuir la tasa de mortalidad neonatal en el país.

Introduction: Neonatal mortality remains a major public health problem worldwide, particularly in developing countries. Most neonatal deaths are attributable to preventable complications, such as premature birth, neonatal sepsis, and birth asphyxia. Objective: To determine the clinical characteristics of neonatal mortality in a tertiary-level hospital in Paraguay through a retrospective observational study. Methods: This observational, descriptive, and retrospective study was conducted at the Hospital de Clínicas in Paraguay. This design allowed information to be obtained from the medical records of newborns who attended the hospital over a period of five years. Results: Between 2018 and 2022, 121 cases of neonatal mortality were recorded at the Hospital de Clínicas del Paraguay. The mean birth weight was 2013.51 ± 1021 kg and mean gestational age was 32.87 ± 4.6 weeks. The most frequent diagnoses of neonatal death were sepsis (37 cases), cardiac involvement (61 cases), and genetic syndromes (39 cases). Discussion: The data obtained from this study suggest that maternal and neonatal risk factors are associated with neonatal mortality in the Hospital de Clínicas of Paraguay. Further studies are needed to analyze these factors and develop preventive strategies to reduce the neonatal mortality rate in the country.

Call for a More Specific Diagnosis of Infant of a Diabetic Mother to Optimize Neonatal Care.

Hyperglycemia is the diagnostic feature of diabetes mellitus (DM), and during pregnancy, hyperglycemia has numerous serious implications for organogenesis and fetal growth. Each type of DM has different neonatal implications based on pathogenesis, length of disease, and comorbidities. Currently, limited attention is given to the woman's type of DM when evaluating risks for neonates. The diagnosis of infant of a diabetic mother is not sufficient because of the varying pathophysiology of diabetes classifications and associated neonatal outcomes. By expanding the diagnosis to include the woman's classification and glucose control, maternity and neonatal care providers could develop plans of care based on potential neonatal outcomes, including anticipatory guidance for families. In this commentary, we propose a more specific diagnosis, rather than infant of a diabetic mother, to better serve these infants.

Neonatal Deep Palmar Space Infection: An Unusual Presentation.

Deep palmar space infection is a rare but potentially serious condition in neonates that requires prompt diagnosis and management. We present the case of a neonate who developed a deep palmar space infection on day two of life. The neonate presented with swelling, erythema, tenderness, and limited movement of the affected hand. The diagnosis was confirmed with imaging using ultrasound, which revealed evidence of fluid collection suggestive of an abscess. Surgical drainage of the abscess and appropriate antibiotic therapy resulted in a successful outcome with complete resolution of symptoms and recovery of hand function. This case highlights the importance of early recognition, appropriate diagnostic workup, and prompt surgical intervention for deep palmar space infection in neonates to prevent complications and achieve favourable outcomes. Additionally, infection prevention measures such as maintaining strict aseptic techniques during invasive procedures in neonates should be emphasised to prevent similar infections in the future.

Treatment of Congenital Afibrinogenemia in a Neonate With Critical Pulmonary Stenosis.

Fibrinogen deficiencies in neonates can lead to bleeding complications. In this report, we describe a case of congenital afibrinogenemia in a newborn with critical pulmonary stenosis who presented with bilateral cephalohematomas after an uncomplicated delivery. The initial use of cryoprecipitate was followed by administration of fibrinogen concentrate. We estimated a half-life of 24 to 48 hours with the concentrate product. This patient received fibrinogen replacement and had a subsequent successful cardiac repair. The drug's shorter half-life in this neonate contrasts with prior reports of longer half-life in older patients and is important to note in treating future neonatal patients with this diagnosis.

A Case of Multiple Self-Involuting, Mixed Presentation, Giant Congenital Juvenile Xanthogranuloma.

Juvenile xanthogranuloma (JXG) is an uncommon benign skin disorder of infants and young children characterized by dermal proliferation and infiltration of dendrocytes. We present a unique case of giant congenital JXG with a mixed presentation of macules, papules, nodules, and ulcerations in a neonatal male who was observed until the age of 23 months, by which time all lesions had spontaneously self-involuted. Prior to complete resolution, some lesions took the form of pedunculated protrusions. To our knowledge, this is the first of this atypical case to be presented in the literature.

Women with preeclampsia exposed to air pollution during pregnancy: Relationship between oxidative stress and neonatal disease - Pilot study.

Oxidative imbalance as a pathophysiological mechanism has been reported as an adverse outcome in pregnant women who develop preeclampsia and in their newborns. Furthermore, emerging evidence suggests the same mechanism by which air pollutants may exert their toxic effects. Therefore, the objective of the study was to evaluate the biomarkers of oxidative stress and their relationship with neonatal disease in premature newborns from mothers with preeclampsia exposed to air pollution during pregnancy. The data of air pollutants (PM2.5, PM10 and ozone) were collected at fixed monitoring stations. Oxidative and antioxidant status markers were obtained through special techniques in women with preeclampsia and in umbilical cord blood of their premature newborns. The oxidative stress markers were significantly higher in women with preeclampsia and their newborns who were exposed to higher levels of ambient air pollutants in the first and second trimester of pregnancy. Neonatal diseases are associated with preeclampsia in pregnancies, specifically intrauterine growth restriction (IUGR) and necrotizing enterocolitis (NEC). A significant correlation was identified in the levels of prooxidant agents and antioxidant enzyme activity in the presence of neonatal diseases associated with preeclampsia. There is increased oxidative damage in both the maternal and fetal circulation in women who develop preeclampsia exposed to air pollution during pregnancy. Therefore, these pregnancies complicated by preeclampsia have a greater adverse outcome as neonatal disease in the preterm infant.

Progress of newborn screening in China / 浙江大学学报·医学版

Newborn screening (NBS) plays a significant role in reducing the risk of birth defects. NBS in China began in the early 1980s. Under the protection of laws and regulations and the leadership of the national health administration, approved screening centers in public hospitals took the responsibility for publicity, screening, diagnosis, treatment, follow-up and management of birth defects. As of 2022, 31 provinces (autonomous regions and municipalities directly under the central government) have carried out NBS for phenylketonuria, congenital hypothyroidism, and hearing loss, 23 provinces have carried out screening for glucose-6-phosphate dehydrogenase (with a screening rate of 89.24%), and 24 provinces have carried out screening for congenital adrenal cortical hyperplasia (91.45% screening rate). Over the past four decades, screening techniques have evolved from bacterial inhibition, fluorescence analysis, and tandem mass spectrometry for the detection of biochemical markers to genetic testing, which has greatly contributed to the expansion of the types of diseases screened for. The combined use of metabolomics and genomics is currently being explored. Effective management and rigorous quality control of NBS are prerequisites for improving the quality and ensuring the accuracy of screening. The Quality Management System for Newborn Screening System Network (QMS-NBS), established by the National Center for Clinical Laboratories, covers all screening centers and related blood collection agencies. The operation of the QMS-NBS allows the quality and performance of screening to be transparent and measurable, ensuring the quality and efficiency of screening. This article provides an overview of the history of NBS, especially the evolution of policies for the NBS in China, the construction of screening institutions, the number of newborns screened, the incidence rates of screened diseases, the changes in screening technology, the expansion of new diseases screened for, and the quality control of NBS. Overall, the progress in NBS in China has not only benefited from the development and standardization at the technological level, but also benefited from the construction of policies, regulations and ethics.

Clinical analysis of 172 cases of neonatal death after giving up treatment / 中国医师杂志

Objective:To summarize the situation of dead newborns and their parents after parents gave up treatment, and analyze the reasons and emotional needs of parents who gave up treatment, so as to provide reference for reducing neonatal mortality and negative emotions of parents.Methods:A retrospective study was conducted to collect the data of neonates and mothers who died after giving up treatment reported in Hunan Children′s Hospital from January 2019 to December 2021. The general information, perinatal risk factors, and the incidence of in-hospital diseases were analyzed. Then, semi-structured interviews were conducted with parents of newborns who died after giving up treatment from February to December 2021. Understand why parents give up treatment and their emotional needs.Results:A total of 172 newborns died after giving up were included in the analysis, including 103 males (59.88%) and 74 premature infants (43.02%); Umbilical cord, placenta and amniotic fluid abnormalities were 21 cases (12.21%), 39 cases (22.67%) and 25 cases (14.53%), respectively. Birth asphyxia was 31 cases (18.02%), including severe asphyxia in 18 cases (10.46%); There were 21 (12.21%), 35 (20.35%) and 30 (17.44%) cases of maternal infection in the third trimester, hypertension in pregnancy and diabetes in pregnancy, respectively. The top three causes of death were septicemia (18.02%), congenital malformation (16.86%) and severe pneumonia (10.47%). The main reason why parents give up treatment was that the child′s disease was critical and irreversible, and parents had strong emotional needs for hospice care in their hearts.Conclusions:There are many high risk factors of perinatal death of newborns after giving up treatment. Sepsis is the primary cause of death, and strengthening perinatal health care is fundamental. Parents have a strong demand for hospice care, so it is of practical significance to implement family-centered hospice care model for such special newborns.

Desfechos maternos e neonatais em servidoras públicas estaduais de São Paulo com idade materna avançada / Maternal and neonatal outcomes in state public servants of São Paulo with advanced maternal age

Objetivo: Caracterizar a população das gestantes em diferentes faixas etárias; avaliar desfechos maternos e neonatais em pacientes com idade materna avançada; determinar a faixa etária a partir da qual os desfechos adversos foram mais prevalentes. Métodos: Parturientes atendidas no Hospital do Servidor Público Estadual de São Paulo entre junho/2019 e maio/2020 foram divididas em três grupos ­ 20 a 34 anos; 35 a 39 anos; 40 anos ou mais ­ e analisadas quanto a diversas variáveis. Resultados: Entre as gestantes do Serviço, 44,2% tinham idade materna avançada. A amostra foi composta por 927 pacientes, a maioria com relacionamento conjugal estável (75,2%) e ensino de nível superior (74,7%). Independentemente do grupo etário, foram observados elevados índices de obesidade (25,9%), sobrepeso (39,7%) e cesariana (76,4%). A frequência de iteratividade, diabetes gestacional e doença hipertensiva específica da gestação foi maior a partir dos 35 anos, e a frequência de hipertensão arterial crônica foi maior a partir dos 40 anos. Neonatos de pacientes com 40 anos ou mais tiveram maiores índices de baixo peso ao nascer, óbito neonatal, Apgar de quinto minuto < 7 e necessidade de reanimação neonatal. Conclusão: Pacientes com idade materna avançada representaram porcentagem expressiva da população e tiveram maior frequência de desfechos adversos. Complicações obstétricas foram mais prevalentes a partir dos 35 anos, com destaque para diabetes gestacional e distúrbios hipertensivos. Resultados neonatais desfavoráveis, como baixo peso ao nascer e óbito neonatal, foram mais prevalentes a partir de 40 anos.

Objective: Featuring the population of pregnant women in different age groups; assessing maternal and neonatal outcomes in patients at advanced maternal age; determining the threshold age for the potential prevalence of adverse outcomes. Methods: Women in labor assisted at Hospital do Servidor Público Estadual de São Paulo between June/2019 and May/2020 were divided into three age groups ­ 20 to 34 years; 35 to 39 years; over 40 years ­, who were assessed for several variables. Results: 44.2% of pregnant women in this Service were at advanced maternal age. The sample counted on 927 patients, most of them declared stable marital relationships (75.2%) and College degree (74,7%). High obesity levels (25.9%), overweight (39.7%) and cesarean delivery (76.4%) were observed, regardless of age group. Maternal request was the main indication for cesarean surgery. Iteration frequency, gestational diabetes and pregnancy-specific hypertensive disease was higher from the age of 35 years, on. Chronical high blood pressure was higher in the age group over 40 years. Newborns from patients older than over 40 years presented higher low weight at birth index, neonatal death, 5th minute Apgar score < 7 and the need of neonatal resuscitation. Conclusion: Patients at advanced maternal age recorded higher obstetric adversity frequency in the age group over 35 years, with emphasis on gestational diabetes and high blood pressure. Unfavorable neonatal outcomes related to low weight at birth and neonatal death were more prevalent in the age group over 40 years.

Seroprevalence of antibodies against to SARS-CoV 2 in umbilical cord blood in two hospital centers in Córdoba and Sucre, Colombia.

INTRODUCTION: Pregnant women continue to be vulnerable to COVID-19, and their immunosuppressed state could put them at greater risk of developing more severe forms of the disease. In Colombia and Latin America, there are few studies on the immune response of the newborn against SARS-CoV-2. AIM: To determine the prevalence of SARS-CoV-2 infection in umbilical cord blood in two hospital centers in Córdoba and Sucre. METHODS: Between March and June 2021, a prospective descriptive cross-sectional study was carried out. Two hospitals from the departments of Córdoba and Sucre, located in the Northwest Caribbean area of Colombia, participated. Three hundred sixty umbilical cord blood samples were taken at the two hospitals. A commercial ELISA was performed to detect total IgG, IgM, and IgA antibodies against the N protein of SARS-CoV-2. The ethics committee approved the study of the participating institutions. RESULTS: Of 3.291 women who gave birth in the hospital centers included in the study, 360 (11%) participated. Complete clinical data were obtained for 223 women. The mean age of the women was 24 years (range, 15-42). 29.4% (106/360) of the umbilical cord samples had total antibodies against SARS-CoV-2. Pregnant women did not have blood samples taken. 58% of the women were asymptomatic. There was no association between umbilical cord samples, clinical, epidemiological characteristics, and serological response to antibodies to SARS-CoV-2 (p > 0.05). CONCLUSIONS: The prevalence of umbilical cord blood samples was 29.4% for total SARS-CoV-2 antibodies. The study provides essential aspects for the epidemiological approach to neonates infected with SARS-CoV-2.

The attitude of Polish women planning pregnancy and/or having children towards vaccinations: a cross-sectional survey study.

OBJECTIVES: Infectious diseases in pregnant women can cause birth defects. Implementing appropriate prevention methods while planning pregnancy can help avoid some of them. MATERIAL AND METHODS: A cross-sectional survey study was performed. The questionnaire investigated attitudes towards vaccinations, as well as opinions on anti-vaccine movements and the so-called "chickenpox parties". The questionnaire was developed for the purpose of this study and the survey was conducted using the google form, which was posted on social media groups for women planning pregnancy, being pregnant or for mothers' groups from Poland. RESULTS: The study group consisted of 2402 women; their median age was 31 years (range 16-54 years). Most women were from cities > 100,000 inhabitants (49.7%, 1194/2402) and had higher education (71.9%, 1726/2402). A positive attitude towards vaccinations was more common among younger, nulliparous women from big cities (p = 0.02, p = 0.04 and p = 0.01, respectively). 2068/2402 (86.1%) of respondents were not vaccinated before pregnancy and 1931/2402 (80.4%) of women were not vaccinated during pregnancy. While most women (1545/2402, 64.3%) considered vaccination safe, and effective (1904/2402, 79.3%) against infectious diseases, many (n = 296/2402 12.3%) have no opinion on the so-called chickenpox party. CONCLUSIONS: Most surveyed women had a positive attitude towards vaccinations and consider vaccines a safe and effective method of protection against infectious diseases. Since a significant proportion of women were not vaccinated before or during pregnancy and about 12% of women are undecided, the physician's role is crucial in educating and persuading the patient to be vaccinated.

Neurodesarrollo en recién nacidos de muy bajo peso nacidos en Matanzas en el periodo 2016-2018

RESUMEN Fundamento La comparación de los resultados del neurodesarrollo en recién nacidos de muy bajo peso según cohortes de años de nacimiento permite evaluar el impacto de las diferentes intervenciones llevadas a cabo para prevenir y tratar las afecciones más frecuentes en este grupo de pacientes durante el período perinatal y neonatal, así como de las diferentes condiciones y enfermedades que se presentan en estas etapas del desarrollo. Objetivo evaluar el neurodesarrollo a los dos años de edad corregida en una cohorte de recién nacidos de muy bajo peso. Métodos estudio observacional prospectivo, que incluyó a recién nacidos pretérminos con peso al nacer <1500 g egresados vivos del Hospital Docente Ginecobstétrico Provincial de Matanzas, en el período 2016-2018, y que hubieran completado su seguimiento en consulta de neurodesarrollo a los dos años de edad corregida (N=52). Los datos contenidos en las historias clínicas fueron almacenados en una base de datos (SPSS v. 22.0), a partir de la cual se realizó el procesamiento estadístico. Se consideró significativo todo valor p <0,05. Resultados a los dos años de edad corregida, el 90 % de los pacientes eran normales; las alteraciones mayores y menores se encontraron, respectivamente, en 2 y 8 % de los casos. Las convulsiones neonatales clínicas se asociaron significativamente con la ocurrencia de alteraciones del neurodesarrollo. Conclusión La incidencia de alteraciones del neurodesarrollo a los dos años de edad corregida en recién nacidos de muy bajo peso en Matanzas fue menor en el período estudiado, en relación a años anteriores, aunque este hallazgo no resultó estadísticamente significativo.

ABSTRACT Background The comparison of neurodevelopmental results in very low birth weight newborns according to birth year cohorts allows evaluating the impact of the different interventions carried out to prevent and treat the most frequent conditions in this group of patients during the perinatal period and neonatal, as well as the different conditions and diseases that occur in these stages of development. Objective to evaluate neurodevelopment at two years of corrected age in a cohort of very low birth weight newborns. Methods prospective observational study, which included preterm newborns with birth weight <1500 g discharged alive from the Provincial Gynecobstetric Teaching Hospital of Matanzas, in the period 2016-2018, and who had completed their follow-up in a neurodevelopment consultation at two years old corrected age (N=52). The data contained in the medical records were stored in a database (SPSS v. 22.0), from which the statistical processing was performed. Any value p<0.05 was considered significant. Results at two years old of corrected age, 90% of the patients were normal; major and minor alterations were found, respectively, in 2 and 8% of cases. Clinical neonatal seizures were significantly associated with the occurrence of neurodevelopmental abnormalities. Conclusion The incidence of neurodevelopmental disorders at two years old of corrected age in very low birth weight newborns in Matanzas was lower in the period studied, in relation to previous years, although this finding was not statistically significant.

Clinical and epidemiological characterization of newborns with necrotizing enterocolitis / Caracterização clínica e epidemiológica de recém-nascidos com enterocolite necrosante

INTRODUCTION: Necrotizing enterocolitis (NEC) is a severe inflammatory disorder that can affect the whole gastrointestinal system, particularly the ileum, and is a major cause of morbidity in premature infants. OBJECTIVE: To describe the clinical and epidemiological profile of newborns with NEC, seeking to identify the causes, evolution and severity of the disease. METHODS: The study selected 94 patients who developed NEC (cases) and 60 patients who did not develop the disease during hospitalization (controls) and presented similar clinical signs of the case group. The variables analyzed divided into maternal and neonatal. The frequency tests were applied using the Statistical Package for the Social Sciences (SPSS) version 21.0 and comparative analysis using the GraphPad Prism® 5.0 software. RESULTS: There was a higher number of prenatal consultations in cases with NEC. Newborns with NEC had shorter hospital stay, longer parenteral nutrition and antibiotics use and a predominant use of infant formula. The Bell criteria modified by Walsh and Kleigman was negatively correlated to maternal age and positively correlated to gestational age, birth weight and time of parenteral nutrition. CONCLUSION: Although being a disease of the newborn, the present study indicated that maternal characteristics may be related to its onset of NEC. Therefore, the greater number of prenatal consultations and neonatal factors such as length of stay, prolonged use of parenteral nutrition and antibiotic therapy, and formula use may influence the development of the disease.

INTRODUÇÃO: A Enterocolite Necrosante (ECN) é um grave distúrbio inflamatório que pode afetar todo o sistema gastrointestinal, em particular o íleo, é uma causa de morbiletalidade em prematuros. OBJETIVO: Delinear o perfil clínico-epidemiológico de recém-nascidos com ECN, buscando identificar as causas, modo de evolução e gravidade da doença. MÉTODOS: Foram selecionados 94 pacientes que desenvolveram ECN (casos) e 60 pacientes que não desenvolveram a doença no período de internação (controles) e apresentavam sinais clínicos semelhantes do grupo caso. As variáveis analisadas foram classificadas em maternas e neonatais. Foram realizados testes de frequência usando o programa Statistical Package for the Social Sciences (SPSS) versão 21.0 e análise comparativa usando o teste programa GraphPad Prism® 5.0. RESULTADOS: Nos casos com ECN houve maior número de consultas pré-natal. Os recém-nascidos com ECN apresentaram menor tempo de internação, maior tempo de nutrição parenteral e uso de antibióticos tiveram predomínio no uso de fórmula infantil. A classificação modificada de Bell por Walsh and Kleigman apresentou correlação negativa com idade materna e positiva com idade gestacional, peso ao nascer e o tempo de nutrição parenteral. CONCLUSÃO: Apesar de ser uma doença do recém-nascido, esse estudo sugere que características maternas podem ter relação com o aparecimento da ECN. O número maior de consultas pré-natal e os fatores neonatais como o tempo de internação, uso prolongado de nutrição parenteral, antibioticoterapia e uso de fórmulas pode influenciar o desenvolvimento da doença.

Primary cutaneous mucormycosis in a premature neonate treated conservatively with amphotericin B.

Cutaneous mucormycosis is a rare, often fatal fungal infection that most commonly affects patients with underlying immunosuppression but also can occur in premature neonates. We report the case of an extremely premature boy (<25 weeks) who developed primary cutaneous mucormycosis shortly after birth. Although surgical debridement has been a mainstay of treatment in combination with antifungal therapy, our patient was successfully treated with amphotericin B alone-the management only reported in three other cases to date. We present this case to highlight that prompt initiation of treatment with amphotericin B alone may be an appropriate alternative to surgical intervention, particularly in patients with non-angioinvasive disease who are poor surgical candidates.

Neoseq for neonatal screening of fatty acid oxidation disorders / 中华围产医学杂志

Objective:To explore the value of Neoseq in screening and diagnosis of neonatal fatty acid oxidation disorders (FAOD).Methods:A retrospective case-control study was conducted on 163 500 live births in Changzhou city from April 2015 to April 2021. The following two models were adopted for FAOD screening and diagnosis. (1) Traditional mode: Heel blood samples were obtained from all subjects for initial screening using tandem mass spectrum (TMS), followed by next-generation sequencing (NGS) and other differential diagnostic testings for those with positive results. (2) Neoseq: Neoseq was performed on the true positive, negative and false positive cases according to the traditional mode screening results. The detection rate, additional discovery, reporting period, and other parameters of the two models for FAOD were described and compared.Results:(1) Detection and diagnosis of FAOD: A total of 18 confirmed cases of FAOD were detected through the traditional model, with an incidence of 1/9 083 in Changzhou city. The positive rate was 0.55% (907/163 500) for initial TMS and 0.04% (73/163 500) for the second. The positive predictive value was 2.0%(18/907), with a false positive rate of 98%(889/907) in the initial screening. (2) The results of Neoseq: ①Pathogenic mutations were detected in 16 of the 18 confirmed cases, and the coincidence rate of mutation sites between the two methods was 16/18. The other two confirmed cases were missed diagnosed by Neoseq, including one β-ketothiolase deficiency with only one detected pathogenic mutation and one medium-chain acyl-CoA dehydrogenase deficiency without any detected pathogenic mutation. ②No pathogenic mutations were detected in the 57 false-positive cases by Neoseq. ③Among the 100 negative cases in initial screening, DUOX2 heterozygous mutation, and MTTL1 hemizygous mutation were detected in one case each. ④The median period of results reporting was 43.5 d (28-104 d) for the traditional mode and 12 d (10-15 d) for the Neoseq mode. Conclusions:Neoseq has a high detection rate for FAOD. Combined with TMS screening, Neoseq reduces the false-positive rate of biochemical screening, rapidly identifies genetic causes by shortening the results waiting time and covers diseases that couldn't be detected by traditional biochemical methods.