RESUMO
Despite extensive studies into severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the effect of maternal infection on the neonate is unclear. To investigate this, we characterized the immunology of neonates born to mothers with confirmed SARS-CoV-2 infection during pregnancy. Here we show that maternal SARS-CoV-2 infection affects the neonatal immune system. Despite similar proportions of B cells, CD4+ T cells and CD8+ T cells, increased percentages of natural killer cells, Vδ2+ γδ T cells and regulatory T cells were detected in neonates born to mothers with recent or ongoing infection compared with those born to recovered or uninfected mothers. Increased plasma cytokine levels were also evident in neonates and mothers within the recent or ongoing infection group. Cytokine functionality was enhanced in neonates born to SARS-CoV-2-exposed mothers, compared to those born to uninfected mothers. In most neonates, this immune imprinting was nonspecific, suggesting vertical transmission of SARS-CoV-2 is limited, a finding supported by a lack of SARS-CoV-2-specific IgM in neonates despite maternal IgG transfer.
Assuntos
COVID-19/imunologia , Doenças do Recém-Nascido/imunologia , Transmissão Vertical de Doenças Infecciosas , Complicações Infecciosas na Gravidez/imunologia , SARS-CoV-2/imunologia , Adulto , Anticorpos Antivirais/imunologia , COVID-19/diagnóstico , COVID-19/virologia , Citocinas/sangue , Citocinas/imunologia , Citocinas/metabolismo , Feminino , Humanos , Imunidade Inata/imunologia , Imunoglobulina G/imunologia , Recém-Nascido , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/virologia , Células Matadoras Naturais/imunologia , Gravidez , Complicações Infecciosas na Gravidez/virologia , Receptores de Antígenos de Linfócitos T gama-delta/imunologia , Receptores de Antígenos de Linfócitos T gama-delta/metabolismo , SARS-CoV-2/fisiologia , Linfócitos T/imunologia , Linfócitos T/metabolismo , Linfócitos T Reguladores/imunologiaRESUMO
BACKGROUND: The diagnosis of neonatal diabetes can be problematic in preterm infants with fetal growth restriction (FGR). Growth restricted fetuses may have impaired insulin production and secretion; low birthweight infants may have a reduced response to insulin. We report a novel missense ABCC8 variant associated with a clinical phenotype compatible with transient neonatal diabetes mellitus (TNDM) in a fetal growth restricted preterm infant. METHODS AND RESULTS: A preterm growth restricted infant experienced hyperglycemia from the first day of life, requiring insulin therapy on the 13th and 15th day of life and leading to the diagnosis of TNDM. Glycemic values normalized from the 35th day of life onwards. Genetic screening was performed by next generation sequencing, using a Clinical Exon panel of 4800 genes, filtered for those associated with the clinical presentation and by means of methylation-specific multiplex ligation-dependent probe amplification analysis to identify chromosomal aberrations at 6q24. Genetic tests excluded defects at 6q24 and were negative for KCNJ11, SLC2A2 (GLUT-2) and HNF1B, but revealed the presence of the heterozygous missense variant c.2959T > C (p.Ser987Pro) in ABCC8 gene. The presence of the variant was excluded in parents' DNA and the proband variant was then considered de novo. CONCLUSIONS: In our infant, the persistence of hyperglycemia beyond 3 weeks of life led us to the diagnosis of TNDM and to hypothesize a possible genetic cause. The genetic variant we found could be, most likely, the main cause of both FGR and TNDM.
Assuntos
Diabetes Mellitus , Retardo do Crescimento Fetal , Mutação de Sentido Incorreto , Receptores de Sulfonilureias , Humanos , Retardo do Crescimento Fetal/genética , Mutação de Sentido Incorreto/genética , Receptores de Sulfonilureias/genética , Recém-Nascido , Diabetes Mellitus/genética , Feminino , Masculino , Recém-Nascido Prematuro , Insulina/metabolismo , Doenças do Recém-Nascido/genética , Doenças do Recém-Nascido/diagnósticoRESUMO
Neonatal hypoglycemia is a major source of concern for pediatricians since it has commonly been related to poor neurodevelopmental outcomes. Diagnosis is challenging, considering the different operational thresholds provided by each guideline. Screening of infants at risk plays a crucial role, considering that most hypoglycemic infants show no clinical signs. New opportunities for prevention and treatment are provided by the use of oral dextrose gel. Continuous glucose monitoring systems could be a feasible tool in the next future. Furthermore, there is still limited evidence to underpin the current clinical practice of administering, in case of hypoglycemia, an intravenous "mini-bolus" of 10% dextrose before starting a continuous dextrose infusion. This brief review provides an overview of the latest advances in this field and neurodevelopmental outcomes according to different approaches. Conclusion: To adequately define if a more permissive approach is risk-free for neurodevelopmental outcomes, more research on continuous glucose monitoring and long-term follow-up is still needed. What is Known: ⢠Neonatal hypoglycemia (NH) is a well-known cause of brain injury that could be prevented to avoid neurodevelopmental impairment. ⢠Diagnosis is challenging, considering the different suggested operational thresholds for NH (<36, <40, <45, <47 or <50 mg/dl). What is New: ⢠A 36 mg/dl threshold seems to be not associated with a worse psychomotor development at 18 months of life when compared to the "traditional" threshold (47 mg/dl). ⢠Further studies on long-term neurodevelopmental outcomes are required before suggesting a more permissive management of NH.
Assuntos
Hipoglicemia , Doenças do Recém-Nascido , Recém-Nascido , Lactente , Humanos , Glicemia , Automonitorização da Glicemia , Hipoglicemia/diagnóstico , Hipoglicemia/etiologia , Hipoglicemia/tratamento farmacológico , Doenças do Recém-Nascido/diagnóstico , Hipoglicemiantes/uso terapêutico , Géis/uso terapêutico , Glucose/uso terapêuticoRESUMO
Group B Streptococcus (GBS) is an important cause of neonatal sepsis in term and preterm infants. Because GBS colonizes human genitourinary and gastrointestinal tracts, a significant focus of neonatal GBS disease prevention is to interrupt vertical transmission of GBS from mother to infant during parturition. Routine antepartum GBS screening in pregnant women, as well as widespread use of intrapartum antibiotic prophylaxis, have aided in overall reductions in neonatal GBS disease during the past 3 decades. However, neonatal GBS disease persists and may cause mortality and significant short- and long-term morbidity among survivors. Herein, we highlight contemporary epidemiology, microbial pathogenesis, and the clinical presentation spectrum associated with neonatal GBS disease. We summarize obstetric recommendations for antenatal GBS screening, indications for intrapartum antibiotic prophylaxis, and considerations for antibiotic selection. Finally, we review national guidelines for risk assessment and management of infants at risk for GBS disease.
Assuntos
Doenças do Recém-Nascido , Complicações Infecciosas na Gravidez , Infecções Estreptocócicas , Lactente , Gravidez , Feminino , Recém-Nascido , Humanos , Complicações Infecciosas na Gravidez/diagnóstico , Complicações Infecciosas na Gravidez/tratamento farmacológico , Complicações Infecciosas na Gravidez/epidemiologia , Infecções Estreptocócicas/diagnóstico , Infecções Estreptocócicas/tratamento farmacológico , Infecções Estreptocócicas/epidemiologia , Recém-Nascido Prematuro , Antibacterianos/uso terapêutico , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/terapia , Streptococcus agalactiae , Transmissão Vertical de Doenças Infecciosas/prevenção & controleRESUMO
Neonatal hypoglycemia (NH) is broadly defined as a low plasma glucose concentration that elicits hypoglycemia-induced impaired brain function. To date, no universally accepted threshold (reference range) for plasma glucose levels in newborns has been published, as data consistently indicate that neurologic responses to hypoglycemia differ at various plasma glucose concentrations. Infants at risk for NH include infants of diabetic mothers, small or large for gestational age, and premature infants. Common manifestations include jitteriness, poor feeding, irritability, and encephalopathy. Neurodevelopmental morbidities associated with NH include cognitive and motor delays, cerebral palsy, vision and hearing impairment, and poor school performance. This article offers a timely discussion of the state of the science of NH and recommendations for neonatal providers focused on early identification and disease prevention.
Assuntos
Hipoglicemia , Humanos , Hipoglicemia/etiologia , Hipoglicemia/diagnóstico , Recém-Nascido , Glicemia/análise , Glicemia/metabolismo , Enfermagem Neonatal/normas , Enfermagem Neonatal/métodos , Doenças do Recém-Nascido/diagnósticoRESUMO
The blooming of neonatal neurocritical care over the last decade reflects substantial advances in neuromonitoring and neuroprotection. The most commonly used brain monitoring tools in the neonatal intensive care unit (NICU) are amplitude integrated EEG (aEEG), full multichannel continuous EEG (cEEG), and near-infrared spectroscopy (NIRS). While some published guidelines address individual tools, there is no consensus on consistent, efficient, and beneficial use of these modalities in common NICU scenarios. This work reviews current evidence to assist decision making for best utilization of neuromonitoring modalities in neonates with encephalopathy or with possible seizures. Neuromonitoring approaches in extremely premature and critically ill neonates are discussed separately in the companion paper. IMPACT: Neuromonitoring techniques hold promise for improving neonatal care. For neonatal encephalopathy, aEEG can assist in screening for eligibility for therapeutic hypothermia, though should not be used to exclude otherwise eligible neonates. Continuous cEEG, aEEG and NIRS through rewarming can assist in prognostication. For neonates with possible seizures, cEEG is the gold standard for detection and diagnosis. If not available, aEEG as a screening tool is superior to clinical assessment alone. The use of seizure detection algorithms can help with timely seizures detection at the bedside.
Assuntos
Encefalopatias , Doenças do Recém-Nascido , Recém-Nascido , Humanos , Convulsões/terapia , Convulsões/tratamento farmacológico , Encefalopatias/diagnóstico , Encefalopatias/terapia , Eletroencefalografia/métodos , Unidades de Terapia Intensiva Neonatal , Cuidados Críticos , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/terapiaRESUMO
BACKGROUND: To examine the use of abdominal ultrasound (AUS) as a diagnostic adjunct in the diagnosis of necrotizing enterocolitis (NEC) in cases where abdominal radiography (AXR) is equivocal in order to reduce unnecessary antibiotic use in neonates. METHODS: Retrospective study (2017-2019) of infants undergoing NEC evaluation with equivocal AXR findings (n = 54). Paired AXR and AUS were reviewed with respect to presence or absence of pneumatosis. Concordance of AUS findings with decision to treat for NEC was evaluated. RESULTS: Among 54 infants where AXR was equivocal, AUS demonstrated presence of pneumatosis in 22 patients (41%), absence of pneumatosis in 31 patients (57%), and was equivocal in 1 patient. All patients with pneumatosis on AUS were treated for NEC. Of 31 patients without pneumatosis on AUS, 25 patients (78%) were not treated for NEC. Patients without pneumatosis on AUS received a significantly shorter mean duration of antibiotics compared to those with pneumatosis (3.3 days (+/- 4.8 days) vs 12.4 days (+/- 4.7 days)); p < 0.001). Of those patients not treated, none required treatment within 1 week following negative AUS. CONCLUSION: AUS is a valuable tool for evaluating the presence or absence of pneumatosis in the setting of equivocal AXR. Absence of pneumatosis on AUS informs clinical decision making and reduces unnecessary treatment and antibiotic usage.
Assuntos
Enterocolite Necrosante , Doenças do Recém-Nascido , Lactente , Recém-Nascido , Humanos , Enterocolite Necrosante/diagnóstico , Estudos Retrospectivos , Radiografia Abdominal/métodos , Doenças do Recém-Nascido/diagnóstico , Ultrassonografia/métodosRESUMO
BACKGROUND: We have recently noted some sonographic features in necrotizing enterocolitis that have received little or no attention in the current literature. These include thickening of the mesentery, hyperechogenicity of intraluminal intestinal contents, abnormalities of the abdominal wall, and poor definition of the intestinal wall. It has been our impression that the above four sonographic findings are generally seen in neonates with more severe necrotizing enterocolitis and may be useful in predicting outcome. OBJECTIVES: The aim of this study is, firstly, to review a large series of neonates, known to have clinical NEC, to document how frequently the above four sonographic features occur in neonates with necrotizing enterocolitis and, secondly, to determine whether they are predictive of outcome. MATERIALS AND METHODS: We retrospectively analyzed the clinical, radiographic, sonographic, and surgical findings in neonates with necrotizing enterocolitis between 2018 and 2021. The neonates were categorized into two groups based on outcome. Group A included neonates with a favorable outcome defined as successful medical treatment with no surgical intervention. Group B included neonates with an unfavorable outcome defined as failed medical treatment requiring surgery (for acute complications or late strictures) or death because of necrotizing enterocolitis. The sonographic examinations were reviewed with attention to the features of mesenteric thickening, hyperechogenicity of intraluminal intestinal contents, abnormalities of the abdominal wall, and poor definition of the intestinal wall. We then determined the association of these four findings with the two groups. RESULTS: We included 102 neonates with clinical necrotizing enterocolitis: 45 in group A and 57 in group B. Neonates in group B were born at a significantly earlier gestational age (median 25 weeks, range 22-38 weeks) and had a significantly lower birth weight (median 715.5 g, range 404-3120 g) than those in group A (median age 32 weeks, range 22-39 weeks, p = 0.003; median weight 1190 g, range 480-4500 g, p = 0.002). The four sonographic features were present in both study groups but with different frequency. More importantly, all four were statistically significantly more frequently present in neonates in group B compared to group A: (i) mesenteric thickening, A = 31 (69%), B = 52 (91%), p = 0.007; (ii) hyperechogenicity of intestinal contents, A = 16 (36%), B = 41 (72%), p = 0.0005; (iii) abnormalities of the abdominal wall, A = 11 (24%), B = 35 (61%), p = 0.0004; and (iv) poor definition of the intestinal wall, A = 7 (16%), B = 25 (44%), p = 0.005. Furthermore, the proportion of neonates with more than two signs was greater in group B compared to group A (Z test, p < 0.0001, 95% CI = 0.22-0.61). CONCLUSION: The four new sonographic features described were found to occur statistically significantly more frequently in those neonates with an unfavorable outcome (group B) than in those with a favorable outcome (group A). The presence or absence of these signs should be included in the sonographic report to convey the radiologists concern regarding the severity of the disease in every neonate, suspected or known to have necrotizing enterocolitis, as the findings may impact further medical or surgical management.
Assuntos
Enterocolite Necrosante , Doenças do Recém-Nascido , Recém-Nascido , Humanos , Lactente , Enterocolite Necrosante/diagnóstico por imagem , Enterocolite Necrosante/terapia , Estudos Retrospectivos , Ultrassonografia , Doenças do Recém-Nascido/diagnóstico , Recém-Nascido de Baixo PesoRESUMO
Necrotizing enterocolitis (NEC) is a common condition in the neonatal intensive care unit that continues to present challenges in terms of diagnosis and management. Traditionally NEC has been diagnosed and managed by clinical and radiographic findings, but US has shown promise in characterizing and prognosticating NEC. In this manuscript we review the abdominal US technique for NEC, the clinical significance of individual sonographic findings of NEC, and how US can be integrated in the clinical decision process for diagnosing and managing NEC. We also discuss the potential value-added role of a limited abdominal US protocol that focuses on the sonographic findings most indicative of a poor prognosis to include pneumoperitoneum, complex free fluid and focal fluid collections.
Assuntos
Enterocolite Necrosante , Doenças Fetais , Doenças do Recém-Nascido , Feminino , Recém-Nascido , Humanos , Enterocolite Necrosante/diagnóstico por imagem , Ultrassonografia , Doenças do Recém-Nascido/diagnóstico , Abdome/diagnóstico por imagem , Unidades de Terapia Intensiva NeonatalRESUMO
Perinatal brain damage is still one of the leading contributors to perinatal death and postnatal disability worldwide. However, the term perinatal brain damage encompasses very different aetiological entities that result in an insult to the developing brain and does not differentiate between the onset, cause and severity of this insult. Hypoxic-ischemic encephalopathy (HIE), intraventricular haemorrhage, periventricular leukomalacia and perinatal stroke are often listed as the major aetiologies of perinatal brain damage. They differ by type and timing of injury, neuropathological and imaging findings and their clinical picture. Along the timeline of neurodevelopment in utero, there appears to be a specific "window of vulnerability" for each type of injury, but clinical overlap does exist. In the past, peripartum acute hypoxia was believed to be the major, if not the only, cause of perinatal brain damage, but intrauterine inflammation, prematurity, chronic hypoxia/growth retardation and genetic abnormalities appear to be at least equally important contributors.
Assuntos
Lesões Encefálicas , Hipóxia-Isquemia Encefálica , Doenças do Recém-Nascido , Recém-Nascido , Gravidez , Feminino , Humanos , Obstetra , Encéfalo/patologia , Hipóxia-Isquemia Encefálica/diagnóstico , Hipóxia-Isquemia Encefálica/etiologia , Hipóxia-Isquemia Encefálica/patologia , Hipóxia , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/etiologiaRESUMO
OBJECTIVES: To evaluate, using video documentation, the sensitivity, specificity, and interobserver reliability of visualizable signs of neonatal hypoglycemia at different glucose concentrations in neonates. STUDY DESIGN: In a prospective cohort study of 145 neonates with and without risk factors for hypoglycemia, 430 videos were recorded before blood glucose measurements and analyzed by 10 blinded investigators of different professions. The primary outcome measures were sensitivity and specificity for clinical detection of hypoglycemia. RESULTS: The overall sensitivity to detect low blood glucose (<55 mg/dL [<3.1 mmol/L]) based on signs was 30%, and the specificity was 82%. Significantly more investigators suspected hypoglycemia while viewing videos of infants with blood glucose levels of 46-54 mg/dL (2.6-3.0 mmol/L) and 30-45 mg/dL (1.7-2.5 mmol/L) compared with ≥55 mg/dL (≥3.1 mmol/L) (29 ± 3% and 31 ± 4% vs 18 ± 1%; P = .001; P = .007). After 48 hours of life, significantly more investigators suspected hypoglycemia in videos of infants with blood glucose levels of ≤45 mg/dL (≤2.5 mmol/L) compared with blood glucose levels of >45 mg/dL (>2.5 mmol/L) (28.9 ± 8.1% vs 10.9 ± 1.8%; P = .007). For blood glucose levels 30-45 mg/dL (1.7-2.5 mmol/L), sensitivity varied widely between investigators, ranging from 5% to 62%. Three hypoglycemic episodes <30 mg/dL (<1.7 mmol/L) were only partially recognized. CONCLUSIONS: Clinical observation of signs is neither sensitive nor specific to detect neonatal hypoglycemia, and there are large interobserver differences. Thus, guidelines on neonatal hypoglycemia should reconsider whether distinguishing between asymptomatic and symptomatic hypoglycemia provides useful information for the management of neonatal hypoglycemia, because it may pose a risk for systematic under-recognition and undertreatment, leading to an increased risk for neurodevelopmental impairment. TRIAL REGISTRATION: German Clinical Trials Register: DRKS00021500 www.drks.de/drks_web/setLocale_EN.do.
Assuntos
Hipoglicemia , Doenças do Recém-Nascido , Glicemia , Humanos , Hipoglicemia/diagnóstico , Hipoglicemia/etiologia , Lactente , Recém-Nascido , Doenças do Recém-Nascido/diagnóstico , Estudos Prospectivos , Reprodutibilidade dos TestesRESUMO
Invasive fungal infections remain the leading causes of morbidity and mortality in neonates, especially preterm and very low birth weight infants. Most invasive fungal infections are due to Candida or Aspergillus species, and other fungi are increasingly reported and described. Appropriate identification and treatment are required to augment activity and reduce the toxicity of antifungal drugs. Successful use of antifungals in the vulnerable neonatal population is important for both prevention and treatment of infection. Strategies for prevention, including prophylactic antifungal therapy as well as reducing exposure to modifiable risk factors, like limiting antibiotic exposure, discontinuation of central catheters, and hand hygiene are key techniques to prevent and decrease rates of invasive fungal infections. In conclusion, this is a review of the most common causes, prevention strategies, prophylaxis, and treatment of invasive fungal infections in neonates.
Assuntos
Antifúngicos/uso terapêutico , Doenças do Recém-Nascido/tratamento farmacológico , Infecções Fúngicas Invasivas/tratamento farmacológico , Humanos , Hospedeiro Imunocomprometido , Recém-Nascido , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/microbiologia , Doenças do Recém-Nascido/fisiopatologia , Infecções Fúngicas Invasivas/diagnóstico , Infecções Fúngicas Invasivas/microbiologia , Infecções Fúngicas Invasivas/fisiopatologia , Fatores de RiscoRESUMO
BACKGROUND: Hypothermia is widely used for infants with hypoxic-ischemic neonatal encephalopathy but its impact remains poorly described at a population level. We aimed to describe brain imaging in infants born at ≥36 weeks' gestation, with moderate/severe encephalopathy treated with hypothermia. METHODS: Descriptive analysis of brain MRI and discharge neurological examination for infants included in the French national multicentric prospective observational cohort LyTONEPAL. RESULTS: Among 575 eligible infants, 479 (83.3%) with MRI before 12 days of life were included. MRI was normal for 48.2% (95% CI 43.7-52.8). Among infants with brain injuries, 62.5% (95% CI 56.2-68.5) had damage to more than one structure, 19.8% (95% CI 15.0-25.3) showed a pattern-associating injuries of basal ganglia/thalami (BGT), white matter (WM) and cortex. Overall, 68.4% (95% CI 62.0-74.3) of infants with normal MRI survived with a normal neurological examination. The rate of death was 15.4% (95% CI 12.3-19.0), predominantly for infants with the combined BGT, cortex, and/or WM injuries. CONCLUSIONS: Among infants with neonatal encephalopathy treated with hypothermia, two-thirds of those with normal MRI survived with a normal neurological examination at discharge. When present, brain injuries often involved more than one structure. TRIAL REGISTRATION: The trial was registered at ClinicalTrials.gov (NCT02676063). IMPACT: In this multicentric cohort of infants with neonatal encephalopathy (LYTONEPAL) two-thirds survived with normal MRI and neurological examination at discharge. In total, 10% of newborns showed a pattern associating injuries of the basal ganglia-thalami, white matter, and cortex, which was correlated with a high risk of death at discharge. The evolution of MRI techniques and sequences in the era of hypothermia calls for a revisiting of imaging protocol in neonatal encephalopathy, especially for the timing. The neurological examination did not give evidence of brain injuries, thus questioning the reproducibility of the clinical exam or the neonatal brain functionality.
Assuntos
Lesões Encefálicas Traumáticas , Lesões Encefálicas , Hipotermia Induzida , Hipotermia , Hipóxia-Isquemia Encefálica , Doenças do Recém-Nascido , Lesões Encefálicas/terapia , Lesões Encefálicas Traumáticas/terapia , Humanos , Hipotermia/terapia , Hipotermia Induzida/métodos , Hipóxia-Isquemia Encefálica/complicações , Hipóxia-Isquemia Encefálica/diagnóstico por imagem , Hipóxia-Isquemia Encefálica/terapia , Lactente , Recém-Nascido , Doenças do Recém-Nascido/diagnóstico , Imageamento por Ressonância Magnética/métodos , Reprodutibilidade dos TestesRESUMO
The aim of the study was to describe the pregnancy outcome of a large cohort of women with toxoplasmosis seroconversion in pregnancy and to investigate the relation between maternal lymphadenopathy and risk of congenital toxoplasmosis (CT). This was a retrospective study involving women with confirmed toxoplasmosis seroconversion in pregnancy between 2001 and 2017. Women were clinically evaluated for lymphadenopathy and classified as follows: lymphadenopathy absent (L-) or lymphadenopathy present (L+). The mothers were treated and followed-up according to local protocol, and neonates were monitored at least for 1 year in order to diagnose CT. A total of 218 women (one twin pregnancy) were included in the analysis. Pregnancy outcome was as follows: 149 (68%) of children not infected, 62 (28.3%) infected, 4 (1.8%) first trimester termination of pregnancy, 2 (0.9%) first trimester miscarriages, and 3 (1.4%) stillbirths (of which one already counted in the infected cohort). 13.8% of women were L+ , and they were nearly three times more likely to have a child with CT compared to L- women (aOR, 2.90; 95%CI, 1.28-6.58). Moreover, the result was still statistically significant when the analysis was restricted to 81 children whose mothers were clinically examined and received treatment within 5 weeks from estimated time of infection. In conclusion, there is a positive association between L+ status in pregnant women, and risk of CT also confirmed when restricting the analysis to women with early diagnosis of seroconversion and treatment. This data could be very useful in counselling pregnant women with toxoplasmosis seroconversion and lead to direct a more specific therapeutic and diagnostic protocol.
Assuntos
Anticorpos Antiprotozoários/sangue , Doenças do Recém-Nascido/diagnóstico , Linfadenopatia/sangue , Complicações Infecciosas na Gravidez/sangue , Efeitos Tardios da Exposição Pré-Natal/diagnóstico , Toxoplasmose Congênita/diagnóstico , Toxoplasmose/sangue , Adulto , Feminino , Humanos , Lactente , Recém-Nascido , Doenças do Recém-Nascido/parasitologia , Transmissão Vertical de Doenças Infecciosas , Linfadenopatia/diagnóstico , Linfadenopatia/parasitologia , Masculino , Gravidez , Complicações Infecciosas na Gravidez/diagnóstico , Complicações Infecciosas na Gravidez/parasitologia , Resultado da Gravidez , Efeitos Tardios da Exposição Pré-Natal/parasitologia , Estudos Retrospectivos , Soroconversão , Toxoplasmose/diagnóstico , Toxoplasmose/parasitologia , Toxoplasmose/transmissão , Toxoplasmose Congênita/parasitologia , Adulto JovemRESUMO
OBJECTIVE: To describe clinical presentation/longterm outcomes of patients with ABCC8/KCNJ11 variants in a large cohort of patients with diabetes. RESEARCH DESIGN AND METHODS: We analyzed patients in the Diabetes Prospective Follow-up (DPV) registry with diabetes and pathogenic variants in the ABCC8/KCNJ11 genes. For patients with available data at three specific time-points-classification as K+ -channel variant, 2-year follow-up and most recent visit-the longitudinal course was evaluated in addition to the cross-sectional examination. RESULTS: We identified 93 cases with ABCC8 (n = 54)/KCNJ11 (n = 39) variants, 63 of them with neonatal diabetes. For 22 patients, follow-up data were available. Of these, 19 were treated with insulin at diagnosis, and the majority of patients was switched to sulfonylurea thereafter. However, insulin was still administered in six patients at the most recent visit. Patients were in good metabolic control with a median (IQR) A1c level of 6.0% (5.5-6.7), that is, 42.1 (36.6-49.7) mmol/mol after 2 years and 6.7% (6.0-8.0), that is, 49.7 (42.1-63.9) mmol/mol at the most recent visit. Five patients were temporarily without medication for a median (IQR) time of 4.0 (3.5-4.4) years, while two other patients continue to be off medication at the last follow-up. CONCLUSIONS: ABCC8/KCNJ11 variants should be suspected in children diagnosed with diabetes below the age of 6 months, as a high percentage can be switched from insulin to oral antidiabetic drugs. Thirty patients with diabetes due to pathogenic variants of ABCC8 or KCNJ11 were diagnosed beyond the neonatal period. Patients maintain good metabolic control even after a diabetes duration of up to 11 years.
Assuntos
Diabetes Mellitus Tipo 2 , Diabetes Mellitus , Doenças do Recém-Nascido , Canais de Potássio Corretores do Fluxo de Internalização , Criança , Humanos , Lactente , Recém-Nascido , Áustria/epidemiologia , Estudos Transversais , Diabetes Mellitus/tratamento farmacológico , Diabetes Mellitus/epidemiologia , Diabetes Mellitus/genética , Diabetes Mellitus Tipo 2/genética , Hemoglobinas Glicadas , Hipoglicemiantes/uso terapêutico , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/epidemiologia , Doenças do Recém-Nascido/genética , Insulina/uso terapêutico , Mutação , Canais de Potássio Corretores do Fluxo de Internalização/genética , Estudos Prospectivos , Sistema de Registros , Receptores de Sulfonilureias/genéticaRESUMO
BACKGROUND: Abdominal ultrasonography (AUS) has been suggested to be valuable in the early detection of necrotizing enterocolitis (NEC). OBJECTIVE: Here, we intended to assess the efficiency of abdominal ultrasound in terms of predicting bowel resection in infants with NEC. METHODS: From January 2018 to March 2021, 164 hospitalized children with NEC who underwent surgical management were enrolled. The enrolled infants were separated into two groups according to whether they underwent bowel resection. We reviewed the clinical data, as well as dynamic sonographic and abdominal radiographic (AR) parameters. The potential performance of AUS parameters was identified and compared with that of AR using a logistic regression analysis and receiver operating characteristic (ROC) curve analysis. RESULTS: Several parameters were detected to be statistically significant in predicting the occurrence of bowel resection, including thick to thin transformation [p < 0.001, odds ratios (OR), 4.38; 95% confidence interval (CI) 2.26-8.52], absence of peristalsis certain areas (p = 0.001, OR, 2.99; 95% CI 1.53-5.86), absence of bowel wall perfusion (p < 0.001, OR 10.56; 95% CI 5.09-21.90), and portal venous gas (p = 0.016, OR, 2.21; 95% CI 1.12-4.37). Furthermore, the ROC curve analysis showed significant differences (p = 0.0021) in the area under the receiver operating curve (AUROC) for the logistic models of AUS (AUROC: 0.755, 95% CI 0.660-0.849) and AR (AUROC: 0.693, 95% CI 0.597-0.789) for the prediction of intestinal resection. CONCLUSIONS: A dynamic AUS examination play an important role to indicate the potential for bowel loss during the surgery.
Assuntos
Enterocolite Necrosante , Doenças do Recém-Nascido , Lactente , Criança , Recém-Nascido , Humanos , Enterocolite Necrosante/diagnóstico por imagem , Enterocolite Necrosante/cirurgia , Recém-Nascido Prematuro , Doenças do Recém-Nascido/diagnóstico , Abdome/diagnóstico por imagem , Abdome/cirurgia , UltrassonografiaRESUMO
BACKGROUND: Neonatal hypoglycaemia is one of the major metabolic disorders that causes irreversible brain injury. Assessing for maternal glucose metabolism disorders can predict and avoid this perinatal complication. Accordingly, diagnosing maternal gestational diabetes mellitus (GDM) is important in protecting neonatal neurological prognosis. However, there are various methods of screening for maternal GDM. The intervention for neonatal hypoglycaemia also varies within each guideline. CASE PRESENTATION: A female infant was born at 37 weeks of gestation by vaginal delivery with no asphyxia. Her mother had no abnormal findings, including glucose metabolism disorders, upon periodic prenatal visits. Upon routine examination at the first hour of life, the baby was lethargic, pale, hypotonic, and rarely cried. An emergent systemic evaluation was performed, and she was diagnosed with severe hyperinsulinemic hypoglycaemia with blood glucose of 11 mg/dL and insulin of 2.7 µU/mL. She was soon fed with milk and her symptoms of hypoglycaemia was resolved before receiving intravenous glucose infusion. Her blood glucose level reached 78 mg/dL 3 h after delivery. She was discharged home with her mother on day 6 of age without relapse of hypoglycaemia. Upon review, we determined that the mother was diagnosed with GDM during her previous pregnancy but not during this current pregnancy. The infant had no developmental delay upon check-up at 6 months. CONCLUSIONS: The infant of this case was not a candidate for neonatal hypoglycaemia screening since her mother had no identifiable risk factors. This case suggests that previous maternal history of GDM might be the cause of neonatal hyperinsulinemic hypoglycaemia. Clinicians need to be aware of the possibility of hypoglycaemia among newborns with a maternal previous history of GDM, regardless of the mother's current diagnosis. Immediate oral feeding can be one of the treatments, even for symptomatic neonatal severe hypoglycaemia, when rapid intravenous access is difficult. The present case also suggests the necessity of considering neonatal outcomes as well as maternal ones when screening for maternal disorders of glucose metabolism.
Assuntos
Diabetes Gestacional , Hipoglicemia , Doenças do Recém-Nascido , Glicemia , Feminino , Humanos , Hipoglicemia/diagnóstico , Hipoglicemia/etiologia , Recém-Nascido , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/etiologia , Insulina/uso terapêutico , Triagem Neonatal , Gravidez , Fatores de RiscoRESUMO
Ultrasound has proved to be a useful modality for enhancing the diagnostic accuracy of necrotizing enterocolitis and associated complications. The standard imaging algorithm for evaluating necrotizing enterocolitis includes radiographs and clinical symptoms, the combination of which constitutes the Bell criteria. Major limitations of using the Bell criteria for diagnosing and clinically managing necrotizing enterocolitis include low diagnostic accuracy of radiographs and nonspecific symptomatology of preterm infants. In this regard, US can offer additional insights into bowel health by helping to characterize bowel motility, echogenicity, thickness, pneumatosis and perfusion. Extramural findings such as portal venous gas, nature and extent of ascites, and pneumoperitoneum can also be assessed. Recently, contrast-enhanced US was explored in a case series of preterm bowel disease and its diagnostic utility warrants further investigation. This article reviews the US features of necrotizing enterocolitis and highlights the role of US as a complement to radiographs, as well as the emerging use of contrast-enhanced US in necrotizing enterocolitis.
Assuntos
Enterocolite Necrosante , Doenças Fetais , Doenças do Recém-Nascido , Abdome/diagnóstico por imagem , Enterocolite Necrosante/diagnóstico por imagem , Feminino , Humanos , Lactente , Recém-Nascido , Doenças do Recém-Nascido/diagnóstico , Recém-Nascido Prematuro , Ultrassonografia/métodosRESUMO
BACKGROUND: Severe neonatal hypoglycemia may cause irreversible neurological sequelae. Although blood glucose (BG) screening in term neonates without risk factors for hypoglycemia (non-risk neonates) is not recommended in the current guidelines, severe hypoglycemia can occur in such neonates. To evaluate the necessity of BG screening in non-risk neonates, it is important to determine the accurate incidence of severe hypoglycemia in those neonates. METHODS: We conducted a 10 year survey of all normal-weight term neonates diagnosed with severe neonatal hypoglycemia who were treated at secondary- and tertiary-level neonatal centers in Toyama Prefecture, Japan, between January 2011 and December 2020. RESULTS: During the study period, 11 cases of severe neonatal hypoglycemia (six of which occurred in non-risk neonates) were identified. The overall incidence of severe hypoglycemia was 1 in 5,827 normal-weight term births, and the incidence in non-risk neonates was 1 in 10 682 normal-weight term births. All of the cases in non-risk neonates were diagnosed as hyperinsulinemic hypoglycemia. CONCLUSIONS: This is the first population-based study to have identified the actual incidence of severe pathological neonatal hypoglycemia in non-risk neonates. The incidence was not low compared with those of the newborn screening disorders, justifying the necessity of BG screening even in non-risk neonates.
Assuntos
Doenças Fetais , Hipoglicemia , Doenças do Recém-Nascido , Glicemia , Feminino , Glucose , Humanos , Hipoglicemia/diagnóstico , Hipoglicemia/epidemiologia , Recém-Nascido , Doenças do Recém-Nascido/diagnóstico , Japão/epidemiologia , Triagem NeonatalRESUMO
Congenital tuberculosis (CTB) is an uncommon yet, well-defined condition. CTB has a non-specific clinical presentation, making the diagnosis difficult. The rarity of CTB in neonates is due to the difficulty in distinguishing between congenital and postnatally acquired infection, and non-specific symptoms in the newborn, which are often misdiagnosed. Though it has a low incidence, it has significant mortality if the diagnosis is delayed. We are presenting two cases of CTB in newborns who showed signs of disease in the first few days of life. The diagnosis was suspected based on chest computed tomography, magnetic resonance imaging brain, cerebrospinal fluid studies, intrauterine growth restriction, non-response to standard treatment and a maternal history of active tuberculosis. These cases highlight the significance of having a high suspicion of CTB and timely treatment for better outcomes.