Assessment of newborn neuropsychomotor development born with exposure to SARS-CoV-2 in the perinatal period using the Bayley III scale at 6 months of age

Abstract Objective: This study aimed to evaluate the Neuropsychomotor Development (NPMD) of newborns exposed to SARS-CoV-2 in the perinatal period using the Bayley III scale at 6 months of age. Methods: Childcare appointments were scheduled for the included newborns in the study. During the 6-month consultation, the Screening Test for Bayley III Scale and, based on it, children were classified as "low risk", "moderate risk" or "high risk" in the domains: of cognitive, receptive language, expressive language, fine motor, and gross motor. Those classified as "moderate risk"; or "high risk" received guidance about NPMD stimuli and were instructed to maintain follow-up. Results: Only 13 (37.1 %) of the newborns were classified as low risk in receptive language and 18 (51.4 %) in gross motor skills, with the domains most affected. Prematurity was a risk for cognitive incompetence (moderate risk/high-risk classification) (coefficient: 1.89, Odds Ratio = 6.7, 95 % CI 1.3‒35, p = 0.02). Lower birth weight that 2.500g had a similar effect on cognitive incompetence (coefficient: 1.9, Odds Ratio = 6.2, 95 % CI 1.2‒32.2, p = 0.02). Exclusive breastfeeding at hospital discharge (n = 8) was protective for incompetence (high risk/moderate risk) in the language domain (coefficient -2.14, OR = 0.12, 95 % CI 0.02‒0.71, p = 0.02). Conclusions: The children included in the study must be monitored and their development monitored in order to clarify whether there is a relationship between the delay in NPMD and perinatal exposure to COVID-19, as delays were observed in these preliminary results.

Risk factors of acute kidney injury in very low birth weight infants in a tertiary neonatal intensive care unit

Abstract Objective Acute kidney injury (AKI) in the neonatal period is associated with worst outcomes as increased mortality and increased length of hospital stay. Very low birth weight (VLBW) newborns are at higher risk for developing several other conditions that are associated with worst outcomes. Understanding the risk factors for AKI may help to prevent this condition and improve neonatal care for this population. Methods This retrospective cohort study included 155 very low birth weight newborns admitted between 2015 and 2017. The authors compared the newborns who developed neonatal AKI with the non-AKI group and analyzed the main risk factors for developing AKI in the population. The authors also performed an analysis of the main outcomes defined as the duration of mechanical ventilation, length of stay, and death. Results From the cohort, a total of 61 (39.4%) patients had AKI. The main risk factors associated with Neonatal AKI were necrotizing enterocolitis (aOR 7.61 [1.69 - 34.37]; p = 0.008), neonatal sepsis (aOR 2.91 [1.17 - 7.24], p = 0.021), and hemodynamic instability (aOR 2.99 [1.35 - 6.64]; p = 0.007). Neonatal AKI was also associated with an increase in the duration of mechanical ventilation in 9.4 days (p = 0.026) and in an increase in mortality 4 times (p = 0.009), after adjusting for the other variables. Conclusion The present results highlight the importance of minimizing sepsis and necrotizing enterocolitis, as well as the importance of identifying hemodynamic instability, to prevent AKI and diminish the burden of morbimortality in VLBW newborns.

Complete blood count and C-reactive protein to predict positive blood culture among neonates using machine learning algorithms

Abstract Purpose: The authors aimed to develop a Machine-Learning (ML) algorithm that can predict positive blood culture in the neonatal intensive care unit, using complete blood count and C-reactive protein values. Methods: The study was based on patients' electronic health records at a tertiary neonatal intensive care unit in São Paulo, Brazil. All blood cultures that had paired complete blood count and C-reactive protein measurements taken at the same time were included. To evaluate the machine learning model's performance, the authors used accuracy, Area Under the Receiver Operating Characteristics (AUROC), recall, precision, and F1-score. Results: The dataset included 1181 blood cultures with paired complete blood count plus c-reactive protein and 1911 blood cultures with paired complete blood count only. The f1-score ranged from 0.14 to 0.43, recall ranged from 0.08 to 0.59, precision ranged from 0.29 to 1.00, and accuracy ranged from 0.688 to 0.864. Conclusion: Complete blood count parameters and C-reactive protein levels cannot be used in ML models to predict bacteremia in newborns.

Avaliação Eletrocardiográfica de Recém-Nascidos Normais na Primeira Semana de Vida - Estudo Observacional / Electrocardiographic Evaluation of Normal Newborns in the First Week of Life - Observational Study

Resumo Fundamento O período neonatal é marcado por muitas alterações importantes no sistema cardiovascular, principalmente na primeira semana de vida. Diferentemente da população adulta, estudos sobre dados de eletrocardiograma (ECG) no período neonatal são escassos. Este é o primeiro estudo a descrever alterações eletrocardiográficas em uma coorte de recém-nascidos com ecocardiogramas normais. Objetivos Analisar padrões eletrocardiográficos de uma população de recém-nascidos a termo, sem anomalias morfológicas ou funcionais cardíacas, e comparar os resultados com a literatura. Métodos Neste estudo observacional, ecocardiogramas e resultados de ECG de 94 neonatos divididos em três grupos etários (até 24 horas, entre 25 e 72 horas, e entre 73 e 168 horas de vida) foram avaliados e comparados com aqueles descritos por Davignon et al. Um valor de p < 0,05 foi considerado estatisticamente significativo. Resultados Diferenças significativas na direção da onda T foram detectadas nas derivações V1 (p= 0,04), V2 (p= 0,02), V3 (p= 0,008) e V4 (p= 0,005). Houve diferenças entre nossos resultados e a literatura atual na maioria dos parâmetros. Conclusão Recém-nascidos a termo com menos de 24 horas de vida apresentaram significativamente mais ondas T positivas que aqueles com mais horas de vida. Encontramos muitas diferenças nos parâmetros de ECG em comparação aos descritos por Davignon et al., particularmente nas amplitudes de P, Q, R, S, duração do QRS, R/S e R+S. Esses achados indicam a necessidade de mais estudos para uma interpretação definitiva do ECG em recém-nascidos.

Abstract Background The neonatal period is marked by major changes in the cardiovascular system, especially in the first week of life. Unlike the adult population, studies on electrocardiogram (ECG) data in the neonatal period are scarce. This is the first study to describe electrocardiographic changes in a cohort of newborns with normal echocardiograms. Objectives To analyze the electrocardiographic patterns of a population of full-term NB, without any cardiac morphological or functional anomalies, and compare the results with the literature. Methods In this observational study, echocardiograms and ECG results from 94 newborns divided in three age groups (up to 24 hours, between 25 and 72 hours, and between 73 and 168 hours of life) were evaluated and compared with those reported by Davignon et al. A p-value <0.05 was considered statistically significant. Results There were significant differences in T-wave direction in leads V1 (p= 0.04), V2 (p= 0.02), V3 (p= 0.008) and V4 (p= 0.005) between the three age groups. There were differences between our findings and the current literature in most of the parameters. Conclusion Term newborns within 24 hours of life showed significantly more positive T waves than older ones. Many differences from the Davignon's ECG parameters were found, particularly in the P, Q, R, S amplitudes, QRS duration, R/S and R+S. These findings indicate that more studies are needed for a definitive interpretation of the ECG in newborns.

Clinical characteristics and evolution of 71 neonates born to mothers with COVID-19 at a tertiary center in Brazil

Abstract Introduction Limited data are available on pregnant women with COVID-19 and their neonates. Objective This study aimed to describe clinical characteristics and evolution from birth to discharge of a retrospective cohort of 71 neonates, with one set of twins, born to women with COVID-19 diagnosed at the end of pregnancy. The authors included all newborns admitted into a neonatal unit of a tertiary hospital in Brazil, between March 2020 and March 2021, whose unvaccinated mothers had COVID-19 symptoms and RT-PCR (Real-Time Polymerase Chain Reaction) for SARS-CoV-2 positive within fourteen days prior to delivery. Newborns to mothers with COVID-19 symptoms and negative tests for SARS-CoV-2 were excluded. Results The main route of birth delivery was cesarean, corresponding to 60 pregnant women (84.5%). The foremost indications for cesarean were pregnant with critical disease (24.6%) and acute fetal distress (20.3%). The mean birth weight was 2452 g (865‒3870 g) and the mean gestational age was 345/7weeks (25‒40 weeks). There were 45 premature newborns (63.3%), of which 21 newborns (29.5%) were less than 32 weeks of gestational age. RT-PCR for SARS-CoV-2 on oropharyngeal swabs was positive in 2 newborns (2.8%) and negative in the other 69 newborns (97.2%). Most newborns (51.4%) needed respiratory support. Therapeutic interventions during hospitalization were inotropic drugs (9.9%), antibiotics (22.8%), parenteral nutrition (26.8%), and phototherapy (46.5%). Conclusion Maternal COVID-19 diagnosticated close to delivery has an impact on the first days of neonatal life.

Neonatal infection and passive acquisition of serum total IgG and reactive with Streptococcus B, anti-LPS of Klebsiella spp and Pseudomonas spp antibodies in twins

SUMMARY OBJECTIVE To describe the concentration of total and specific IgG antibodies anti-Streptococcus B, anti-lipopolysaccharide of Klebsiella spp, and anti-lipopolysaccharide of Pseudomonas spp in the umbilical cord of newborn(NB) twins and to analyze the association between neonatal infection and antibody concentration in the umbilical cord blood. METHODS A prospective cross-sectional study of a cohort of NB twins admitted during the period of 20 months. Patients with malformations and mothers with infection were excluded. Variables analyzed: gestational age(GA); birth weight(BW); antibody concentrations in umbilical cord blood; infection episodes. We used the paired Student t-test, Spearman correlation, and generalized estimation equation. RESULTS 57 pairs of twins were included, 4 excluded, making the sample of 110 newborns. GA=36±1.65weeks and BW=2304.8±460g(mean±SD). Antibody concentrations in twins(mean±SD): total IgG=835.71±190.73mg/dL, anti-StreptococcusB IgG=250.66±295.1 AU/mL, anti-lipopolysaccharide of Pseudomonas spp IgG=280.04±498.66 AU/mL and anti-lipopolysaccharide of Klebsiella spp IgG=504.75±933.93 AU/mL. There was a positive correlation between maternal antibody levels and those observed in newborns(p <0.005). The transplacental transfer of maternal total IgG and anti-LPS Pseudomonas IgG antibodies was significantly lower at NB GA <34 weeks(p <0.05). Five newborns were diagnosed with an infection. Infants with infection had significantly lower total IgG concentration(p <0.05). CONCLUSION This study showed a positive correlation between maternal and newborn antibodies levels. In infants younger than 34 weeks there is less transfer of total IgG and anti-LPS Pseudomonas IgG. The highest incidence of infection in the newborn group who had significantly lower total IgG serum antibodies reinforces the importance of anti-infectious protection afforded by passive immunity transferred from the mother.

RESUMO OBJETIVOS Descrever o título de anticorpos IgG total e específico anti-Streptococcus B, anti-lipopolissacarídeos(LPS) de Klebsiella e Pseudomonas no cordão umbilical em gêmeos e analisar a possível associação entre os títulos desses anticorpos e a ocorrência de infecção. MÉTODOS Estudo prospectivo transversal de uma coorte de recém-nascidos (RN) gemelares em 20 meses. Excluídos: malformação, infecção congênita ou materna. Variáveis estudadas: idade gestacional(IG); peso de nascimento(PN); título de anticorpos e episódios de infecção. Foram utilizados testes t-Student pareado, correlação de Spearman e equações de estimação generalizadas. RESULTADOS Elegíveis 59 pares de gêmeos, excluídos 4 e incluídos 55 pares (n=110RN). A IG foi 36±1,65semanas e o PN foi 2304,8±460g (média±DP). Concentrações de anticorpos dos RN(média±DP): IgG total=835,71±190,73 mg/dL, IgG anti-Streptococcus B=295,1±250,66 UA/mL, IgG anti-LPS Pseudomonas=280,04±498,66 UA/mL e IgG anti-LPS Klebsiella=504,75± 933,93UA/mL. Houve correlação positiva entre níveis de anticorpos maternos e aqueles observados nos RN (p<0,005). A transferência transplacentária de anticorpos maternos IgG total e IgG anti-LPS Pseudomonas foi significativamente menor em RN IG < 34semanas (p<0,05). Foram diagnosticados 5 RN com infecção. Os RN que apresentaram infecção tinham concentração de IgG total significativamente menor (p<0,05). CONCLUSÕES Na população estudada existe correlação entre os anticorpos maternos e os níveis de anticorpos no RN. Nos gêmeos menores que 34 semanas há menor transferência de IgG total e IgG anti-LPS Pseudomonas. Nos RN com infecção a concentração de IgG total é significativamente menor, o que demonstra a maior vulnerabilidade e risco de infecção dessa população e a importância da imunidade passiva transferida pela placenta.

Guidance on breastfeeding during the Covid-19 pandemic

SUMMARY OBJECTIVE These recommendations aim to provide guidance on breastfeeding for mothers with suspected or confirmed Covid-19. METHODS We performed a review of the recent medical literature on breastfeeding mothers with suspected or confirmed Covid-19, focusing on the neonatal period. RESULTS We analyzed 20 recent publications on breastfeeding, Covid-19, and its transmission through breastmilk. We presented possible options for breastfeeding and their consequences for the mother and the child. CONCLUSION All maternal decisions in relation to breastfeeding are justifiable since the infection by Covid-19 is still poorly known. However, puerperal women and their families must be very well informed to make a conscious choice based on the information available in the literature so far.

RESUMO OBJETIVO Estas recomendações têm como objetivo orientar o aleitamento materno de mães com Covid-19 suspeita ou confirmada. MÉTODO Foi realizada revisão da literatura médica recente sobre aleitamento materno de mães com Covid-19 suspeita ou confirmada, focando o período neonatal. RESULTADOS Foram analisadas 20 publicações recentes sobre aleitamento materno, Covid-19 e sua transmissão pelo leite. Foram apresentadas as possíveis opções maternas em relação ao aleitamento e suas consequências para o binômio mãe-filho. CONCLUSÃO Todas as opções maternas em relação à amamentação são justificáveis, porque a infecção por Covid-19 ainda é pouco conhecida. Porém, as puérperas e seus familiares devem ser muito bem orientados, realizando uma opção consciente e baseada nas informações disponíveis na literatura até o momento.

Expert recommendations for the care of newborns of mothers with COVID-19

This article presents expert recommendations for assisting newborn children of mothers with suspected or diagnosed coronavirus disease 2019 </mac_aq>(COVID-19). The consensus was developed by five experts with an average of 20 years of experience in neonatal intensive care working at a reference university hospital in Brazil for the care of pregnant women and newborns with suspected or confirmed COVID-19. Despite the lack of scientific evidence regarding the potential for viral transmission to their fetus in pregnant mothers diagnosed with or suspected of COVID-19, it is important to elaborate the lines of care by specialists from hospitals caring for suspected and confirmed COVID-19 cases to guide multidisciplinary teams and families diagnosed with the disease or involved in the care of pregnant women and newborns in this context. Multidisciplinary teams must be attentive to the signs and symptoms of COVID-19 so that decision-making is oriented and assertive for the management of the mother and newborn in both the hospital setting and at hospital discharge.

Síndrome do desconforto respiratório: influência do manejo sobre o estado hemodinâmico de recém-nascidos pré-termo ≤ 32 semanas nas primeiras 24 horas de vida / Respiratory distress syndrome: influence of management on the hemodynamic status of ≤ 32-week preterm infants in the first 24 hours of life

RESUMO Objetivo: Investigar a influência do manejo da síndrome do desconforto respiratório sobre parâmetros clínicos e ecocardiográficos de avaliação hemodinâmica em recém-nascidos ≤ 32 semanas. Métodos: Foram avaliados prospectivamente 33 recém-nascidos ≤ 32 semanas, submetidos à ventilação mecânica invasiva. A necessidade de surfactante exógeno e os parâmetros clínicos e ecocardiográficos nas primeiras 24 horas de vida foram detalhadas nesse grupo de pacientes. Resultados: O valor da pressão média de vias aéreas foi significativamente maior nos recém-nascidos que necessitaram de inotrópicos [10,8 (8,8 - 23) cmH2O versus 9 (6,2 - 12) cmH2O; p = 0,04]. Houve correlação negativa entre pressão média de vias aéreas e integral velocidade-tempo da artéria pulmonar (r = -0,39; p = 0,026), débito do ventrículo direito (r = -0,43; p = 0,017) e medidas da excursão do plano do anel tricúspide (r = -0,37; p = 0,036). Verificou-se correlação negativa entre o número de doses de surfactante exógeno e: débito de ventrículo direito (r = -0,39; p = 0,028) e a integral velocidade-tempo da artéria pulmonar (r = -0,35; p = 0,043). Conclusão: Nos recém-nascidos ≤ 32 semanas em ventilação mecânica invasiva, elevações de pressão média de vias aéreas e do número de doses de surfactante correlacionam-se com piora da função cardíaca precoce. Aparentemente, o manejo mais agressivo da síndrome do desconforto respiratório contribui para a instabilidade hemodinâmica desses pacientes.

ABSTRACT Objective: To investigate the influence of respiratory distress syndrome management on clinical and echocardiographic parameters used for hemodynamic evaluation in ≤ 32- week newborns. Methods: Thirty-three ≤ 32-week newborns were prospectively evaluated and subjected to invasive mechanical ventilation. The need for exogenous surfactant and clinical and echocardiographic parameters in the first 24 hours of life was detailed in this group of patients. Results: The mean airway pressure was significantly higher in newborn infants who required inotropes [10.8 (8.8 - 23) cmH2O versus 9 (6.2 - 12) cmH2O; p = 0.04]. A negative correlation was found between the mean airway pressure and velocity-time integral of the pulmonary artery (r = -0.39; p = 0.026), right ventricular output (r = -0.43; p = 0.017) and measurements of the tricuspid annular plane excursion (r = -0.37; p = 0.036). A negative correlation was found between the number of doses of exogenous surfactant and the right ventricular output (r = -0.39; p = 0.028) and pulmonary artery velocity-time integral (r = -0.35; p = 0.043). Conclusion: In ≤ 32-week newborns under invasive mechanical ventilation, increases in the mean airway pressure and number of surfactant doses are correlated with the worsening of early cardiac function. Therefore, more aggressive management of respiratory distress syndrome may contribute to the hemodynamic instability of these patients.

An unfavorable intrauterine environment may determine renal functional capacity in adulthood: a meta-analysis

Since studies show that an unfavorable environment during intrauterine development predisposes individuals to several diseases in adulthood, our objective is to assess the relation between fetal growth restriction and chronic renal disease in adults. We searched four different electronic databases through November 2017: CENTRAL, EMBASE, LILACS and MEDLINE. We selected studies with longitudinal or transversal designs associating kidney function in adulthood with low birth weight. Two reviewers evaluated the inclusion criteria and the risk of bias and extracted data from the included papers. Thirteen studies were selected for the systematic review and meta-analysis. We observed increased risks of presenting end-stage renal disease (risk ratio 1.31, 95% confidence interval: 1.17, 1.47), a lower glomerular filtration rate (ml/min) (mean difference 7.14; 95% confidence interval: -12.12, -2.16), microalbuminuria (risk ratio 1.40; 95% confidence interval: 1.28, 1.52) and a small increase in the albumin/creatinine ratio (mean difference 0.46; 95% confidence interval: 0.03, 0.90) in the low birth weight patients, compared with control group. These findings suggest that low birth weight is associated with renal dysfunction in adults.

Type II and III selective fetal growth restriction: perinatal outcomes of expectant management and laser ablation of placental vessels

OBJECTIVES: To describe the perinatal outcomes of type II and III selective fetal growth restriction (sFGR) in monochorionic-diamniotic (MCDA) twin pregnancies treated with expectant management or laser ablation of placental vessels (LAPV). METHODS: Retrospective analysis of cases of sFGR that received expectant management (type II, n=6; type III, n=22) or LAPV (type II, n=30; type III, n=9). The main outcomes were gestational age at delivery and survival rate. RESULTS: The smaller fetus presented an absent/reversed "a" wave in the ductus venosus (arAWDV) in all LAPV cases, while none of the expectant management cases presented arAWDV. The median gestational age at delivery was within the 32nd week for expectant management (type II and III) and for type II LAPV, and the 30th week for type III LAPV. The rate of at least one twin alive at hospital discharge was 83.3% and 90.9% for expectant management type II and III, respectively, and 90% and 77.8% for LAPV type II and III, respectively. CONCLUSION: LAPV in type II and III sFGR twins with arAWDV in the smaller fetus seems to yield outcomes similar to those of less severe cases that received expectant management.

Repercussões da hiperinsuflação manual em recém-nascidos pré-termo sob ventilação mecânica / Effects of manual hyperinflation in preterm newborns under mechanical ventilation

RESUMO Objetivo: Avaliar as repercussões da hiperinsuflação manual, realizada com ressuscitador manual com e sem válvula de pressão positiva expiratória final, sobre a função respiratória de recém-nascidos pré-termo em ventilação mecânica. Métodos: Estudo transversal com recém-nascidos pré-termo com idade gestacional inferior a 32 semanas, em ventilação mecânica e dependentes desta aos 28 dias de vida, estáveis hemodinamicamente. A hiperinsuflação manual foi aplicada de forma randomizada, alternando o uso ou não uso da válvula de pressão positiva expiratória final, seguida de aspiração intratraqueal finalizando a manobra. Para os dados nominais, foi aplicado o teste de Wilcoxon com hipótese bilateral ao nível de significância de 5% e poder de teste de 80%. Resultados: Foram estudados 28 recém-nascidos pré-termo com peso médio de nascimento 1.005,71 ± 372.16g, idade gestacional média 28,90 ± 1,79 semanas, idade corrigida média de 33,26 ± 1,78 semanas, tempo médio de ventilação mecânica de 29,5 (15 - 53) dias. Ocorreu aumento dos volumes inspiratório e expiratório entre os momentos A5 (antes da manobra) e C1 (imediatamente após aspiração intratraqueal) tanto na manobra com válvula (p = 0,001 e p = 0,009) como sem válvula (p = 0,026 e p = 0,001), respectivamente. Também houve aumento da resistência expiratória entre os momentos A5 e C1 com p = 0,044. Conclusão: Os volumes pulmonares aumentaram na manobra com e sem válvula, havendo diferença significativa no primeiro minuto após a aspiração. Houve diferença significativa na resistência expiratória entre os momentos A5 (antes da manobra) e C1 (imediatamente após aspiração intratraqueal) no primeiro minuto após a aspiração dentro de cada manobra.

ABSTRACT Objective: To assess the effects of manual hyperinflation, performed with a manual resuscitator with and without the positive end-expiratory pressure valve, on the respiratory function of preterm newborns under mechanical ventilation. Methods: Cross-sectional study of hemodynamically stable preterm newborns with gestational age of less than 32 weeks, under mechanical ventilation and dependent on it at 28 days of life. Manual hyperinflation was applied randomly, alternating the use or not of the positive end-expiratory pressure valve, followed by tracheal aspiration for ending the maneuver. For nominal data, the two-tailed Wilcoxon test was applied at the 5% significance level and 80% power. Results: Twenty-eight preterm newborns, with an average birth weight of 1,005.71 ± 372.16g, an average gestational age of 28.90 ± 1.79 weeks, an average corrected age of 33.26 ± 1.78 weeks, and an average mechanical ventilation time of 29.5 (15 - 53) days, were studied. Increases in inspiratory and expiratory volumes occurred between time-points A5 (before the maneuver) and C1 (immediately after tracheal aspiration) in both the maneuver with the valve (p = 0.001 and p = 0.009) and without the valve (p = 0.026 and p = 0.001), respectively. There was also an increase in expiratory resistance between time-points A5 and C1 (p = 0.044). Conclusion: Lung volumes increased when performing the maneuver with and without the valve, with a significant difference in the first minute after aspiration. There was a significant difference in expiratory resistance between the time-points A5 (before the maneuver) and C1 (immediately after tracheal aspiration) in the first minute after aspiration within each maneuver.

Characterization of the motor performance of newborns in a neonatal unit of tertiary level / Caracterização do desempenho motor de recém-nascidos em unidade neonatal de nível terciário

Summary Objective: To characterize the motor performance of newborns in a neonatal unit of tertiary level and compare the results to the values recommended by the Test of Infant Motor Performance (TIMP). Method: Newborns between 34 and 416/7 weeks of corrected gestational age, breathing spontaneously and presenting state of consciousness 4 or 5, according to Brazelton, were included. TIMP was used to evaluate the motor performance. Results: The age groups of 34-35 and 36-37 weeks showed on average TIMP scores similar to the reference values (p>0.05), while in the age groups of 38-39 weeks and 40-41 weeks TIMP scores were statistically lower than the reference values (p<0.001 and p=0.018, respectively). The 34-35 and 36-37 week groups were rated as average, while the 38-39 and 40-41 week groups were defined as low average. Classifications below average and very below average were not observed. Conclusion: The newborns showed average scores compared to the TIMP reference values; however, there were two groups whose performances were within the low average. There was no significant difference in motor performance of newborns in the age groups of 38-39 and 40-41 weeks. This behavior suggests that the sample studied has special features that possibly negatively influenced their motor performance. The results showed that the TIMP is a very useful tool and can be used safely in tertiary neonatal units.

Resumo Objetivo: caracterizar o desempenho motor de recém-nascidos em unidade neonatal de nível terciário e comparar os resultados com os valores normativos preconizados pelo Test of Infant Motor Performance (TIMP). Método: foram incluídos recém-nascidos entre 34 e 416/7 semanas de idade gestacional corrigida, em respiração espontânea e estado de consciência 4 ou 5, segundo Brazelton. Para avaliar o desempenho motor, foi utilizado o TIMP. Resultados: os grupos etários de 34-35 e 36-37 semanas apresentaram em média escore TIMP semelhante aos valores de referência; já nos grupos etários 38-39 semanas e 40-41 semanas, os escores TIMP foram estatisticamente menores que os valores de referência (p<0,001 e p=0,018, respectivamente). Os grupos de 34-35 e 36-37 semanas foram classificados como dentro da média, enquanto os grupos 38-39 e 40-41 semanas como média baixa. As classificações abaixo da média e muito abaixo da média não foram observadas. Conclusão: os recém-nascidos apresentaram escores dentro da média quando comparados aos valores de referência do TIMP; porém, houve dois grupos cujo desempenho se situou na classificação média baixa. Houve diferença significativa no desempenho motor dos recém-nascidos nos grupos etários de 38-39 e 40-41 semanas. Esse comportamento sugere que a casuística estudada apresenta particularidades que, possivelmente, influenciaram de modo negativo o desempenho motor. Os resultados obtidos mostram que o TIMP é instrumento de grande utilidade e pode ser usado com segurança em unidade neonatal terciária.

Menkes disease: importance of diagnosis with molecular analysis in the neonatal period / Doença de Menkes: importância do diagnóstico com análise molecular no período neonatal

Summary Menkes disease is a congenital disorder caused by changes in copper metabolism derived from mutations in the ATP7A gene. It is characterized by physical and neurological alterations. In the neonatal period, these alterations can be nonspecific, which makes early diagnosis a challenge. Diagnosis can be suspected when there are low levels of ceruloplasmin and serum copper. Molecular analysis confirms the diagnosis. Treatment is parenteral administration of copper histidine. We report a familial case with molecular confirmation. The proband had clinical and biochemical suspicious. Treatment with copper histidine was indicated, but initiated at the age of 2 months and 27 days only. He did not present improvements and died at 6 months. The mother became pregnant again, a male fetus was identified and copper histidine was manufactured during pregnancy. He was born healthy, biochemical markers were reduced and treatment was indicated. Molecular analysis was performed confirming mutation in both the mother and the proband, while the other son did not have mutation, so treatment was discontinued. We support the clinical relevance of molecular confirmation for the correct diagnosis and genetic counseling, once clinical findings in the neonatal period are nonspecific and early treatment with parenteral copper histidine must be indicated.

Resumo A doença de Menkes é causada por uma alteração genética no metabolismo do cobre, por mutações no gene ATP7A. Caracteriza-se por alterações neurológicas e no exame físico. No período neonatal, essas alterações podem ser inespecíficas, o que torna o diagnóstico precoce um desafio. O diagnóstico pode ser suspeitado quando há baixos níveis séricos de cobre e ceruloplasmina. A análise molecular confirma o diagnóstico, e o tratamento deve ser feito com histidina de cobre. Nós relatamos um caso familial de doença de Menkes. O probando apresentava quadro clínico e alterações bioquímicas compatíveis com a doença de Menkes, em consulta com 1 mês de vida. O tratamento foi indicado, mas apenas iniciado com 2 meses e 27 dias. Ele não apresentou melhora clínica e veio a óbito com 6 meses. A mãe teve uma nova gestação, foi identificado um feto do sexo masculino e foi solicitada a manipulação da histidina de cobre ainda durante a gestação. O bebê nasceu saudável, os marcadores bioquímicos estavam diminuídos e o tratamento com histidina de cobre foi indicado. Realizamos a análise molecular, que confirmou mutação no gene ATP7A na mãe e no probando; porém, o outro filho não apresentava mutação e o tratamento foi interrompido. Nós defendemos a importância clínica da confirmação molecular para o correto diagnóstico e o aconselhamento genético da doença de Menkes, uma vez que os achados clínicos e as alterações bioquímicas no período neonatal são inespecíficos, e o tratamento com histidina de cobre parenteral deve ser rapidamente instituído.

Intrauterine growth restriction in monochorionic-diamniotic twins / Restrição de crescimento intrauterino em gêmeos monocoriônicos diamnióticos.

Objective: to evaluate neonatal morbidity and mortality in monochorionic- -diamniotic (MCDA) twin pregnancies complicated by selective intrauterine growth restriction (sIUGR) and non-selective intrauterine growth resctriction (nsIUGR). Methods: neonatal morbidity parameters and mortality were analyzed in 34 twins with IUGR (< 10th percentile on twins’ growth charts): 18 with sIUGR and 16 with nsIUGR. The sIUGR group was made up of 18 pregnancies in which growth was restricted in only one fetus (n = 18). The nsIUGR group was composed of 8 pregnancies in which both fetuses presented restricted growth (n = 16). Cases of twin-to-twin transfusion syndrome and fetal malformation were not included in the study. Results: the MCDA twin pregnancies with sIUGR had a higher rate of orotracheal intubation (p = 0.001) and mechanical ventilation (p = 0.0006), as well as longer than average fasting time (p = 0.014) compared to those in which the fetuses had nsIUGR. A higher incidence was also observed of types II and III umbilical artery Doppler velocimetry patterns in the sIUGR cases (p = 0.002). There was no significant difference between the two groups as to mortality during pregnancy and the neonatal period (p = 0.09). Conclusion: in MCDA twin pregnancies, sIUGR presents more severe umbilical artery Doppler velocimetry abnormalities and worse morbidity than nsIUGR. .

Objetivo: avaliar a morbidade e mortalidade neonatal em gestações monocoriônicas e diamnióticas (MCDA) acometidas pela restrição de crescimento fetal seletiva (RCFS) e não seletiva (RCFNS). Métodos: os parâmetros de morbidade e mortalidade neonatais foram avaliados em 34 gêmeos com RCF (abaixo do percentil 10 de uma curva de crescimento para gêgêmeos): 18 com RCFS e 16 com RCFNS. O grupo com RCFS teve origem em 18 gestações, em que somente um feto apresentava RCF. O grupo com RCFNS teve origem em 8 gestações em que ambos os fetos apresentavam RCF. Foram excluídos deste estudo casos da síndrome da transfusão feto-fetal e malformações fetais. Resultados: os gêmeos de gestações MCDA com RCFS apresentaram maior frequência de entubação orotraqueal (p=0,001), ventilação mecânica (p=0,0006) e maior tempo em jejum durante internação (p=0,014), quando comparados aos gêmeos de gestações MCDA com RCFNS. No grupo com RCFS, também foram observados maior frequência de tipos II e III de dopplervelocimetria de artéria umbilical (p=0,002). Não houve diferença significativa entre os grupos quanto à mortalidade neonatal (p=0,09). Conclusão: em gestações gemelares MCDA, a RCFS representa maior frequência de alterações severas na velocimetria Doppler da artéria umbilical e piores resultados na morbidade neonatal. .