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The male patient, one day old, was admitted to the hospital due to hypoglycemia accompanied by apnea appearing six hours after birth. The patient had transient hypoglycemia early after birth, and acute heart failure suddenly occurred on the eighth day after birth. Laboratory tests showed significantly reduced levels of adrenocorticotropic hormone and cortisol, and pituitary magnetic resonance imaging was normal. Genetic testing results showed that the patient had probably pathogenic compound heterozygous mutations of the TBX19 gene (c.917-2A>G+c.608C>T), inherited respectively from the parents. The patient was conclusively diagnosed with congenital isolated adrenocorticotropic hormone deficiency caused by mutation of the TBX19 gene. Upon initiating hydrocortisone replacement therapy, cardiac function rapidly returned to normal. After being discharged, the patient continued with the hydrocortisone replacement therapy. By the 18-month follow-up, the patient was growing and developing well. In neonates, unexplained acute heart failure requires caution for possible endocrine hereditary metabolic diseases, and timely cortisol testing and genetic testing should be conducted.
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Insuficiência Adrenal , Insuficiência Cardíaca , Hipoglicemia , Recém-Nascido , Humanos , Masculino , Hidrocortisona/uso terapêutico , Hipoglicemia/etiologia , Insuficiência Adrenal/congênito , Insuficiência Adrenal/diagnóstico , Insuficiência Adrenal/genética , Insuficiência Cardíaca/etiologia , Insuficiência Cardíaca/genética , Hormônio AdrenocorticotrópicoRESUMO
OBJECTIVES: To explore the application of whole-genome sequencing (WGS) in the rapid clinical diagnosis of critically ill neonates. METHODS: The critically ill neonates who admitted to the neonatal intensive care unit of Children's Hospital of Fudan University and underwent WGS from August to September, 2019 were enrolled in this prospective study. The genetic testing results and clinical outcome were analyzed with reference to the sequencing data and clinical features of the neonates. RESULTS: A total of 15 neonates were tested, among whom there were 9 boys and 6 girls. The main reason for hospitalization included abnormal breathing in 7 neonates, poor response in 2 neonates, feeding difficulty in 2 neonates, fever in 1 neonate, hypothermia in 1 neonate, preterm birth in 1 neonate, and convulsion in 1 neonate. The mean turn-around time was 4.5 days for WGS. Finally a genetic diagnosis was obtained for 3 neonates, with a positive diagnostic rate of 20% (3/15). Among the 3 neonates, 2 neonates were withdrawn from the treatment due to severe conditions and 1 neonate died on the day when the sample was sent for genetic testing, whose etiology could be explained by the results of genetic testing. CONCLUSIONS: WGS technique can provide a timely and effective diagnosis for critically ill neonates suspected of genetic diseases and provide genetic evidence for clinical treatment of critically ill cases.
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Estado Terminal , Nascimento Prematuro , Recém-Nascido , Masculino , Criança , Feminino , Humanos , Estudos Prospectivos , Dispneia , FebreRESUMO
Neonatal seizures are the most common clinical manifestations of critically ill neonates and often suggest serious diseases and complicated etiologies. The precise diagnosis of this disease can optimize the use of anti-seizure medication, reduce hospital costs, and improve the long-term neurodevelopmental outcomes. Currently, a few artificial intelligence-assisted diagnosis and treatment systems have been developed for neonatal seizures, but there is still a lack of high-level evidence for the diagnosis and treatment value in the real world. Based on an artificial intelligence-assisted diagnosis and treatment systems that has been developed for neonatal seizures, this study plans to recruit 370 neonates at a high risk of seizures from 6 neonatal intensive care units (NICUs) in China, in order to evaluate the effect of the system on the diagnosis, treatment, and prognosis of neonatal seizures in neonates with different gestational ages in the NICU. In this study, a diagnostic study protocol is used to evaluate the diagnostic value of the system, and a randomized parallel-controlled trial is designed to evaluate the effect of the system on the treatment and prognosis of neonates at a high risk of seizures. This multicenter prospective study will provide high-level evidence for the clinical application of artificial intelligence-assisted diagnosis and treatment systems for neonatal seizures in the real world.
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Epilepsia , Doenças do Recém-Nascido , Inteligência Artificial , Eletroencefalografia/métodos , Epilepsia/diagnóstico , Humanos , Recém-Nascido , Doenças do Recém-Nascido/diagnóstico , Unidades de Terapia Intensiva Neonatal , Estudos Multicêntricos como Assunto , Estudos Prospectivos , Ensaios Clínicos Controlados Aleatórios como Assunto , Convulsões/diagnóstico , Convulsões/tratamento farmacológicoRESUMO
BACKGROUND: The clinical features of KCNQ2-related disorders range from benign familial neonatal seizures 1 to early infantile epileptic encephalopathy 7. The genotype-phenotypic association is difficult to establish. OBJECTIVE: To explore potential factors in neonatal period that can predict the prognosis of neonates with KCNQ2-related disorder. METHODS: Infants with KCNQ2-related disorder were retrospectively enrolled in our study in Children's Hospital of Fudan University in China from Jan 2015 to Mar 2020. All infants were older than age of 12 months at time of follow-up, and assessed by Bayley Scales of Infant and Toddler Development-Third Edition (BSID-III) or Wechsler preschool and primary scale of intelligence-fourth edition (WPPSI-IV), then divided into three groups based on scores of BSID-III or WPPSI-IV: normal group, mild impairment group, encephalopathy group. We collected demographic variables, clinical characteristics, neuroimaging data. Considered variables include gender, gestational age, birth weight, age of the initial seizures, early interictal VEEG, variant location, delivery type. Variables predicting prognosis were identified using multivariate ordinal logistic regression analysis. RESULTS: A total of 52 infants were selected in this study. Early interictal video-electro-encephalography (VEEG) (ß = 2.77, 1.20 to 4.34, P = 0.001), and variant location (ß = 2.77, 0.03 to 5.5, P = 0.048) were independent risk factors for prognosis. The worse the early interictal VEEG, the worse the prognosis. Patients with variants located in the pore-lining domain or S4 segment are more likely to have a poor prognosis. CONCLUSIONS: The integration of early initial VEEG and variant location can predict prognosis. An individual whose KCNQ2 variant located in voltage sensor, the pore domain, with worse early initial VEEG background, often had an adverse outcome.
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Epilepsia Neonatal Benigna , Espasmos Infantis , Eletroencefalografia , Epilepsia Neonatal Benigna/diagnóstico , Epilepsia Neonatal Benigna/genética , Humanos , Lactente , Canal de Potássio KCNQ2/genética , Prognóstico , Estudos Retrospectivos , Espasmos Infantis/diagnóstico , Espasmos Infantis/genéticaRESUMO
OBJECTIVES: To study the change in regional oxygen saturation (rSO2) of intestinal tissue in preterm infants with hemodynamically significant patent ductus arteriosus (hsPDA) by near-infrared spectroscopy, and the clinical significance of the change in intestinal oxygen level in preterm infants with hsPDA. METHODS: The preterm infants with patent ductus arteriosus (PDA) who had gestational age <32 weeks and/or birth weight <1 500 g were prospectively enrolled, who were admitted to the Department of Neonatology, Shenzhen Longgang Central Hospital from October 2017 to October 2020.According to the diagnostic criteria for hsPDA, the preterm infants with patent ductus arteriosus (PDA) were divided into two groups: hsPDA and non-hsPDA. According to closure of the ductus arteriosus after oral administration of ibuprofen, the preterm infants in the hsPDA group were subdivided into two groups: hsPDA closure and hsPDA non-closure. Hemodynamic parameters were measured at diagnosis of PDA and after treatment, and the level of intestinal tissue rSO2 was monitored continuously to analyze its change. RESULTS: A total of 241 preterm infants with PDA were enrolled, with 55 infants (22.8%) in the hsPDA group and 186 infants (77.2%) in the non-hsPDA group. There were 36 infants (65%) in the hsPDA closure group and 19 infants (35%) in the hsPDA non-closure group. Compared with the non-hsPDA group, the hsPDA group had a significantly higher left atrial diameter/aortic root diameter ratio and significantly lower left ventricular ejection fraction and fractional shortening (P<0.05). At each time point within 6 hours after diagnosis (1, 2, 4, and 6 hours), the hsPDA group had significantly lower intestinal tissue rSO2 than the non-hsPDA group (P<0.05), and intestinal tissue rSO2 gradually decreased over time in the hsPDA group (P<0.05), with the lowest level of 0.448±0.014 at 6 hours. Compared with the hsPDA non-closure group, the hsPDA closure group had a significantly lower left atrial diameter/aortic root diameter ratio and significantly higher left ventricular ejection fraction and fractional shortening (P<0.05). At each time point within 48-96 hours after treatment (48, 72, and 96 hours), the hsPDA closure group had significantly higher intestinal tissue rSO2 than the hsPDA non-closure group (P<0.05), and intestinal tissue rSO2 gradually increased since 24 hours after treatment in the hsPDA closure group (P<0.05), with the highest level of 0.578±0.031 at 96 hours. CONCLUSIONS: hsPDA has an impact on intestinal tissue oxygenation in preterm infants, and continuous monitoring of intestinal tissue rSO2 by near-infrared spectroscopy can help to guide the clinical management of hsPDA in preterm infants.
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Permeabilidade do Canal Arterial , Permeabilidade do Canal Arterial/diagnóstico por imagem , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Oxigênio , Estudos Prospectivos , Espectroscopia de Luz Próxima ao Infravermelho , Volume Sistólico , Função Ventricular EsquerdaRESUMO
OBJECTIVES: To investigate the diversity of peripheral blood T cell receptor (TCR) ß chain complementarity-determining region 3 (CDR3) based on immune repertoire sequencing in neonates with sepsis and the possible pathogenesis of neonatal sepsis. METHODS: A total of 12 neonates with sepsis were enrolled as the case group, and 9 healthy full-term infants, matched for gestational age, birth weight, and age, were enrolled as the control group. Omega nucleic acid purification kit (SQ blood DNA Kit II) was used to extract DNA from peripheral blood samples, TCR ß chain CDR3 was amplified by multiplex PCR, and then high-throughput sequencing was performed for the products to analyze the diversity of TCR ß chain CDR3 and the difference in expression. RESULTS: The length and type of TCR ß chain CDR3 were similar between the case and control groups, and Gaussian distribution was observed in both groups. With D50 and Shannon-Wiener index as the evaluation indices for diversity, the case group had a significantly lower diversity of TCR ß chain CDR3 than the control group (P<0.05). The frequency of 48 genes in TCR ß chain V segment was compared, and the results showed that compared with the control group, the case group had significantly higher frequencies of TRBV10-3, TRBV2, and TRBV20-1 (P<0.05). The frequency of 13 genes in TCR ß chain J segment were compared, and the results showed that compared with the control group, the case group had significantly higher frequencies of TRBJ2-3, TRBJ2-5, and TRBJ2-7 (P<0.05). CONCLUSIONS: There is a significant change in the diversity of TCR ß chain CDR3 in the peripheral blood of neonates with sepsis, suggesting that it might be associated with the immune pathogenesis of neonatal sepsis.
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Regiões Determinantes de Complementaridade , Sepse Neonatal , Regiões Determinantes de Complementaridade/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Reação em Cadeia da Polimerase Multiplex , Receptores de Antígenos de Linfócitos T alfa-beta/genéticaRESUMO
OBJECTIVE: To study the safety and efficacy of magnetic resonance imaging (MRI)-compatible incubator in cranial MRI examination for neonates. METHODS: A total of 120 neonates who were hospitalized in three hospitals and needed to undergo MRI examination were randomly divided into a control group and an experimental group, with 60 neonates in each group. The neonates in the experimental group were transferred with MRI-compatible incubator and underwent cranial MRI examination inside the MRI-compatible incubator, and those in the control group were transferred using a conventional neonatal transfer incubator and then underwent MRI examination outside the incubator. The two groups were compared in terms of the primary efficacy index (total examination time), secondary efficacy indices (times of examination, MRI completion rate on the first day of use), and safety indices (incidence rate of adverse events and vital signs). RESULTS: There were no significant differences in total examination time, times of examination, and MRI completion rate on the first day of use between the two groups (P > 0.05). There were also no significant differences between the two groups in the incidence rate of adverse events and vital signs such as respiratory rate, heart rate, blood pressure, and blood oxygen saturation rate at different time points before and after examination (P > 0.05). CONCLUSIONS: The use of MRI-compatible incubator does not significantly shorten the examination time of cranial MRI, but it does provide a relatively stable environment for examination with acceptable safety. There is a need for further studies with a larger population.
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Incubadoras para Lactentes , Imageamento por Ressonância Magnética/instrumentação , Crânio/diagnóstico por imagem , Humanos , Recém-Nascido , Estudos ProspectivosRESUMO
BACKGROUND: Extracorporeal membrane oxygenation (ECMO) not only significantly improves survival rates in severely ill neonates but also is associated with long-term neurodevelopmental issues. To systematically review the available literature on the neurodevelopmental outcomes of neonates and infants who have undergone ECMO treatment, with a focus on motor deficits, cognitive impairments, sensory impairments, and developmental delays. This review aims to understand the incidence, prevalence, and risk factors for these problems and to explore current nursing care and management strategies. DATA SOURCES: A comprehensive literature search was performed across PubMed, EMBASE, and Web of Science using a wide array of keywords and phrases pertaining to ECMO, neonates, infants, and various facets of neurodevelopment. The initial screening involved reviewing titles and abstracts to exclude irrelevant articles, followed by a full-text assessment of potentially relevant literature. The quality of each study was evaluated based on its research methodology and statistical analysis. Moreover, citation searches were conducted to identify potentially overlooked studies. Although the focus was primarily on neonatal ECMO, studies involving children and adults were also included due to the limited availability of neonate-specific literature. RESULTS: About 50% of neonates post-ECMO treatment exhibit varying degrees of brain injury, particularly in the frontal and temporoparietal white matter regions, often accompanied by neurological complications. Seizures occur in 18%-23% of neonates within the first 24 hours, and bleeding events occur in 27%-60% of ECMO procedures, with up to 33% potentially experiencing ischemic strokes. Although some studies suggest that ECMO may negatively impact hearing and visual development, other studies have found no significant differences; hence, the influence of ECMO remains unclear. In terms of cognitive, language, and intellectual development, ECMO treatment may be associated with potential developmental delays, including lower composite scores in cognitive and motor functions, as well as potential language and learning difficulties. These studies emphasize the importance of early detection and intervention of potential developmental issues in ECMO survivors, possibly necessitating the implementation of a multidisciplinary follow-up plan that includes regular neuromotor and psychological evaluations. Overall, further multicenter, large-sample, long-term follow-up studies are needed to determine the impact of ECMO on these developmental aspects. CONCLUSIONS: The impact of ECMO on an infant's nervous system still requires further investigation with larger sample sizes for validation. Fine-tuned management, comprehensive nursing care, appropriate patient selection, proactive monitoring, nutritional support, and early rehabilitation may potentially contribute to improving the long-term outcomes for these infants.
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Oxigenação por Membrana Extracorpórea , Humanos , Oxigenação por Membrana Extracorpórea/efeitos adversos , Recém-Nascido , Lactente , Deficiências do Desenvolvimento/etiologia , Deficiências do Desenvolvimento/epidemiologia , Feminino , Masculino , Encéfalo/crescimento & desenvolvimento , Transtornos do Neurodesenvolvimento/etiologia , Transtornos do Neurodesenvolvimento/epidemiologiaRESUMO
We report a case of cardiac tamponade due to air leak and fatal pneumopericardium that occurred after commercial flight transportation of a premature infant with chronic lung disease without respiratory distress. We review and discuss aspects of flight pathophysiology, and conclude that careful preparation before, and close monitoring during, commercial flight transportation is necessary for premature infants.
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Tamponamento Cardíaco/diagnóstico por imagem , Pneumopatias/fisiopatologia , Pneumopericárdio/diagnóstico por imagem , Transporte de Pacientes , Aeronaves , Tamponamento Cardíaco/terapia , Doença Crônica , Evolução Fatal , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Masculino , Pericardiocentese , Pneumopericárdio/terapia , Pneumotórax/diagnóstico por imagem , RadiografiaRESUMO
Randomized controlled trials have demonstrated the safety and efficacy of mild hypothermia in the treatment of neonatal hypoxic-ischemic encephalopathy (HIE), which can reduce mortality or the incidence of severe neurological sequelae. Mild hypothermia has been used in the neonatal intensive care unit (NICU) as a routine treatment method for neonatal HIE in many developed countries, and it is increasingly applied in some NICUs in China. However, 40%-50% of the neonates treated with mild hypothermia die or develop severe neurological disability. Thus, to achieve the best neuroprotective effect, issues such as selection of patients with indications for mild hypothermia, cooling method, optimal time for mild hypothermia, duration of mild hypothermia, optimal target temperature, and the safety and long-term effects of mild hypothermia combined with other therapies, need to be further discussed. This article reviews the latest progress in clinical research on these issues.
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Hipotermia Induzida/métodos , Hipóxia-Isquemia Encefálica/terapia , Humanos , Hipotermia Induzida/efeitos adversos , Recém-NascidoRESUMO
OBJECTIVE: To study the effect of selective moderate head cooling therapy on maximum length sequences brainstem auditory evoked potential (MLS-BAEP) in newborn piglets with hypoxic-ischemic brain damage. METHODS: Sixteen newborn piglets aged 5-7 day old were randomly divided into three groups: normothermic control (n=4), HI (n=6) and mild hypothermia-treated (n=6). HI was induced through temporary occlusion of both carotid arteries, followed by mechanical ventilation with low concentration of oxygen (FiO2=0.06) for 30 minutes. Mild hypothermia was induced by equipment via circulating water. MLS-BAER was recorded before HI and at 12 hours, 24 hours, 36 hours, 48 hours, 60 hours, 72 hours, 4 days, 7 days, 10 days, 13 days and 15 days after HI. RESULTS: Compared with the normothermic control group, all latencies and intervals tended to increase significantly at 72 hours in the HI group and reached peak values on day 7. From day 10, all latencies and intervals tended to decrease, but apart from wave I latency, still differed significantly from those of the normothermic control group. MLS-BAER variables did not reach normal values until day 15. â ¢ latency, â -â ¢ interval and â -â ¤ interval were significantly reduced in the hypothermia-treated group between 60 and 7 days after HI compared with the HI group (P<0.05). V latency and â ¢-â ¤ interval in the hypothermia-treated group were also reduced compared with the HI group between 72 hours and 7 days after HI (P<0.05). CONCLUSIONS: Both peripheral and central auditory systems are disturbed by HI, which shows as a significant increase in MLS-BAER variables (all latencies and intervals) in newborn piglets. Involvement in central brainstem auditory system reaches a peak on day 7 after injury. MLS-BAER variables still cannot reach to normal values until day 15. Selective moderate head cooling therapy can significantly reduce brainstem damage induced by HI.
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Potenciais Evocados Auditivos do Tronco Encefálico , Hipotermia Induzida , Hipóxia Encefálica/fisiopatologia , Hipóxia Encefálica/terapia , Animais , Animais Recém-Nascidos , SuínosRESUMO
BACKGROUND: Castration is one of the most common surgical procedures performed in dogs. However, based on increasing evidence, male animals experience significant pain after castration. Astragalus polysaccharide (APS), one of the main bioactive components in A. membranaceus bunge, has been widely used as part of Fu-Zheng therapy to enhance natural defense mechanisms. INTRODUCTION: This study was carried out to determine the effects of supplementing different doses of Astragalus polysaccharide (APS; control, 0 mg/kg; APSL, 400 mg/kg; and APSH, 800 mg/kg) for 8 weeks on the haematology and serum chemistry profiles, immune response, and oxidative stress status in weanling beagle dogs. METHODS: After adapting to the experimental environment for 1 week, 18 male beagle dogs (Sichuan Institute of Musk Deer Breeding, China; average initial weight, 3.80 ± 0.43 g; age, 3-month-old) were randomly allotted to diets supplemented with three doses of APS (Control, 0 mg/kg; low, 400 mg/kg; and high, 800 mg/kg), referred to as control, APSL, and APSH, respectively; six dogs were assigned to each treatment. The dogs were fed the respective diets twice daily at 08:30 and 16:30 h in sufficient quantity to supply the metabolizable energy requirements for 8 weeks. On day 43 (19 weeks old), the dogs were castrated. On days 42 (prior to castration, 19 weeks old), 50 (day 7 after castration, 20 weeks old), and 57 (day 14 after castration, 21 weeks old) to measure the haematology, blood chemistry, immune response, and oxidative stress status parameters. RESULTS: Based on our findings, the APSH diet decreased weight gain and increased the feed to gain ratio in dogs (P < 0.05). At 14 days after castration, the wound was almost closed, slightly swollen, dry, and clean in the groups supplemented with APS. In addition, optimal APS supplementation was found to decrease erythrocyte count (RBC), haematocrit (HCT), alkaline phosphatase (ALP), alanine aminotransferase (ALT), C-reactive protein (CRP), interleukin 1ß (IL-1ß), and tumor necrosis factor-α (TNF-α) levels, and cortisol and protein carbonyl (PC) concentrations (P < 0.05). Moreover, the mean corpuscular haemoglobin (MCH) and platelet (PLT) levels, interleukin 10 (IL-10) and glutathione (GSH) content, and Cu/Zn superoxide dismutase (SOD1), catalase (CAT), and glutathione peroxidase (Se-GPx) activities were increased in the APS supplemented groups (P < 0.05) CONCLUSION: This study demonstrated that supplementing weanling beagle dogs with optimum APS could positively affect wound healing by improving their haematological profile (decreased RBC and HCT content, increased MCH and PLT levels), serum biochemical parameters (decreased ALP and ALT content), immune status (decreased CRP, IL-1ß, and TNF-α levels; increased IL-10 content), and antioxidant defense (decreased cortisol and PC content; increased GSH content, and SOD1, CAT, and Se-GPx activities). However, the detailed mechanism whereby APS regulates these changes requires further investigation. In addition, the results of this study suggest that 400 mg/kg diet is the optimum APS dose for beagle dogs.
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Cervos , Hematologia , Animais , Cães , Masculino , Castração/veterinária , Cervos/metabolismo , Suplementos Nutricionais , Glutationa/metabolismo , Hidrocortisona , Imunidade , Interleucina-10/metabolismo , Estresse Oxidativo , Polissacarídeos/farmacologia , Superóxido Dismutase-1/metabolismo , Fator de Necrose Tumoral alfa/metabolismoRESUMO
BACKGROUND: After the global elimination of smallpox, monkeypox has become the most threatening orthopoxvirus to human health. Very few studies have been reported on pregnant women and newborns. In the case of monkeypox infection, the virus can cause serious adverse pregnancy events in women, which can lead to fetal or neonatal death. DATA SOURCES: We made a comprehensive review after an extensive literature search in the PubMed/Medline database and websites concerning smallpox and monkeypox. RESULTS: Two case reports reported a total of nine pregnant women, six of whom had fetal deaths. In the autopsy of a stillbirth, researchers found that the placenta was infected with monkeypox virus, but the mechanism of infection remains unclear. Smallpox vaccine should be administered to acutely exposed pregnant women and newborns. Several novel recombinant vaccinia immunogloblin (rVIG) and human-specific monoclonal antibodies are being developed for the prevention and treatment of monkeypox virus infection. After the fetus was delivered, the newborn should take a bath as soon as possible to remove the amniotic fluid and dirt from the body. The appropriate isolation protocol for the newborn should be selected according to the infection status of the mother. It is not known whether monkeypox virus is present in breast milk, and pasteurized breast milk can be given to newborns when breastfeeding is considered. CONCLUSION: This review presents an overview of monkeypox in the perinatal period and guides the future research direction.
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Mpox , Vacina Antivariólica , Varíola , Gravidez , Humanos , Feminino , Recém-Nascido , Perinatologia , Vacina Antivariólica/efeitos adversosRESUMO
BACKGROUND: Hemodynamically significant patent ductus arteriosus (hsPDA) is associated with increased comorbidities in neonates. Early evaluation of hsPDA risk is critical to implement individualized intervention. The aim of the study was to provide a powerful reference for the early identification of high-risk hsPDA population and early treatment decisions. METHODS: We enrolled infants who were diagnosed with PDA and performed exome sequencing. The collapsing analyses were used to find the risk gene set (RGS) of hsPDA for model construction. The credibility of RGS was proven by RNA sequencing. Multivariate logistic regression was performed to establish models combining clinical and genetic features. The models were evaluated by area under the receiver operating curve (AUC) and decision curve analysis (DCA). RESULTS: In this retrospective cohort study of 2199 PDA patients, 549 (25.0%) infants were diagnosed with hsPDA. The model [all clinical characteristics selected by least absolute shrinkage and selection operator regression (all CCs)] based on six clinical variables was acquired within three days of life, including gestational age (GA), respiratory distress syndrome (RDS), the lowest platelet count, invasive mechanical ventilation, and positive inotropic and vasoactive drugs. It has an AUC of 0.790 [95% confidence interval (CI) = 0.749-0.832], while the simplified model (basic clinical characteristic model) including GA and RDS has an AUC of 0.753 (95% CI = 0.706-0.799). There was a certain consistency between RGS and differentially expressed genes of the ductus arteriosus in mice. The AUC of the models was improved by RGS, and the improvement was significant (all CCs vs. all CCs + RGS: 0.790 vs. 0.817, P < 0.001). DCA demonstrated that all models were clinically useful. CONCLUSIONS: Models based on clinical factors were developed to accurately stratify the risk of hsPDA in the first three days of life. Genetic features might further improve the model performance. Video Abstract (MP4 86834 kb).
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OBJECTIVE: To determine the effects of therapeutic hypothermia (TH) in encephalopathic asphyxiated newborn infants on mortality, long-term neurodevelopmental disability and side effects by summarizing the data of hypoxic-ischemic encephalopathy(HIE) newborns undergoing mild hypothermia using meta-analysis. METHODS: The standard searching strategy of the Neonatal Review Group as outlined in the Cochrane Library was used to retrieve all clinical literatures about TH on HIE. RevMan 5.1 software was used to perform the meta-analysis of target papers. The primary outcome measure was a combination of death and severe major neurodevelopmental disabilities at 18 - 24 months of age. Secondary outcomes included mortality, cerebral palsy (CP), neurodevelopmental delay, blindness, deafness and main side effects of cooling therapy. RESULTS: A total of 276 papers fulfilled the search strategy and 11 trials were included. Overall TH resulted in a statistically significant and clinically important reduction in the combined outcome of death or major neurodevelopmental disabilities to 18-24 months of age (RR = 0.76, 95%CI: 0.68 - 0.84, P < 0.01). Moreover, as compared with the control group, TH significantly decreased the incidence of mortality (RR = 0.76, 95%CI: 0.65 - 0.90, P < 0.01), psychomotor development index(RR = 0.69, 95%CI: 0.55 - 0.87, P < 0.01), mental development index (RR = 0.66, 95%CI: 0.53 - 0.83, P < 0.01), CP (RR = 0.70, 95%CI: 0.54 - 0.91, P < 0.01) and blindness (RR = 0.54, 95%CI: 0.33 - 0.90, P < 0.05)except for severe hearing loss (deafness) (RR = 0.69, 95%CI: 0.35 - 1.34, P = 0.3000) in survivors. Adverse effects included significant thrombocytopenia in the TH group (P = 0.0400) but without deleterious consequences. There were no significant differences in arrhythmia, coagulopathy, hypotension requiring inotropic supports, sepsis and pulmonary hypertension between the TH and control groups (all P > 0.05). CONCLUSIONS: Mild hypothermia is effective in reducing death and major disabilities in infants with moderate-to-severe HIE without significant side effects. Infants presenting within the first hours after birth with the signs and symptoms of moderate-to-severe encephalopathy should be cooled in accordance with the established protocols of previous randomized controlled trials.
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Hipotermia Induzida/efeitos adversos , Hipotermia Induzida/métodos , Hipóxia-Isquemia Encefálica/terapia , Idade Gestacional , Humanos , Hipóxia-Isquemia Encefálica/mortalidade , Recém-Nascido , Resultado do TratamentoRESUMO
BACKGROUND: Electrical cardiometry (EC) is a continuous, non-invasive method for measuring cardiac output (CO). This study investigates the correlation and consistency of CO values in newborns obtained by using EC and M-mode echocardiography (Teichholz formula). METHODS: In this prospective observational study, simultaneous measurement of CO was implemented with EC (COec) and M-mode echocardiography (COm) in neonates. The absolute values of CO measured by the two methods were converted to Z-scores. Following that, Pears's correlation analyses and the Bland-Altman index were employed to analyze the correlation and consistency of COec Z-scores and COm Z-scores. RESULTS: A total of 136 neonates (93 preterm infants) were enrolled in this study, and EC and M-mode echocardiography comparative studies were conducted 155 times. The mean value of COec and COm demonstrated significant statistical differences (P<0.001). A moderate correlation (r=0.601; P<0.001) was found between the two methods. The Bland-Altman index value was 3.2%, which remained less than 5% in the low birth weight (LBW) (2.1%), non-LBW (3.4%), spontaneous respiration (3.1%), nasal continuous positive airway pressure (nCPAP) (4.0%), mechanical ventilation (2.9%), hemodynamic significance of the patent ductus arteriosus (hsPDA) (4.3%), and non-hsPDA (3.7%) groups, respectively. CONCLUSIONS: Although the absolute values of CO measured by EC and M-mode echocardiography were not interchangeable, the distribution of CO in EC and M-mode echocardiography was similar.
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BACKGROUND: Infantile hydrocephalus (IHC) is commonly related to other central nervous system diseases, which may have adverse effects on prognosis. The causes of IHC are heterogeneous, and the genetic etiologies are not fully understood. This study aimed to analyze the genetic etiologies of an IHC cohort. METHODS: The data for 110 IHC patients who had received exome sequencing at the Clinical Genetic Center of the Children's Hospital of Fudan University between 2016 and 2019 were reviewed and analyzed retrospectively. An exome-wide association analysis (EWAS) was performed within this cohort using IHC as the study phenotype. RESULTS: Of the 110 IHC patients, a pathogenic or likely pathogenic variant was identified in 16 (15%) patients, spanning 13 genes. The genes were mainly associated with metabolic disorders, brain abnormalities, and genetic syndromes. IHC patients who had unclear clinical etiology were more likely to possess a genetic etiology. Based on previous studies and on our EWAS results, ZEB1, SBF2, and GNAI2 were over-represented among IHC patients and might affect the signaling pathways involved in IHC formation. CONCLUSIONS: Our study showed heterogeneous genetic etiologies in an IHC cohort. It is essential to perform genetic testing on IHC patients who have unclear clinical etiology, and genes associated with metabolic disorders, brain abnormalities, and genetic syndromes should be noted. In addition, when aiming to discover IHC susceptibility genes, genes that might influence the signaling pathways involved in IHC formation should be prioritized.
Assuntos
Hidrocefalia , China/epidemiologia , Estudos de Coortes , Humanos , Hidrocefalia/genética , Estudos Retrospectivos , Sequenciamento do ExomaRESUMO
BACKGROUND: We collected neonatal neurological, clinical, and imaging data to study the neurological manifestations and imaging characteristics of neonates with coronavirus disease 2019 (COVID-19). METHODS: This case-control study included newborns diagnosed with COVID-19 in Wuhan, China from January 2020 to July 2020. All included newborns had complete neurological evaluations and head magnetic resonance imaging. We normalized the extracted T2-weighted imaging data to a standard neonate template space, and segmented them into gray matter, white matter, and cerebrospinal fluid. The comparison of gray matter volume was conducted between the two groups. RESULTS: A total of five neonates with COVID-19 were included in this study. The median reflex scores were 2 points lower in the infected group than in the control group (P = 0.0094), and the median orientation and behavior scores were 2.5 points lower in the infected group than in the control group (P = 0.0008). There were also significant differences between the two groups in the total scale score (P = 0.0426). The caudate nucleus, parahippocampal gyrus, and thalamus had the strongest correlations with the Hammersmith neonatal neurologic examination (HNNE) score, and the absolute correlation coefficients between the gray matter volumes and each part of the HNNE score were all almost greater than 0.5. CONCLUSIONS: We first compared the neurological performance of neonates with and without COVID-19 by quantitative neuroimaging and neurological examination methods. Considering the limited numbers of patients, more studies focusing on the structural or functional aspects of the virus in the central nervous system in different age groups will be carried out in the future.
Assuntos
COVID-19/diagnóstico por imagem , Imageamento por Ressonância Magnética , Neuroimagem/métodos , Pneumonia Viral/diagnóstico por imagem , Biomarcadores/sangue , COVID-19/epidemiologia , Estudos de Casos e Controles , Desenvolvimento Infantil , China/epidemiologia , Feminino , Humanos , Recém-Nascido , Transmissão Vertical de Doenças Infecciosas , Masculino , Exame Neurológico , Pneumonia Viral/epidemiologia , Pneumonia Viral/virologia , SARS-CoV-2RESUMO
OBJECTIVE: To investigate the efficacy and safety of selective head cooling with mild systemic hypothermia in hypoxic-ischemic encephalopathy (HIE) in newborn infants. STUDY DESIGN: Infants with HIE were randomly assigned to the selective head cooling or control group. Selective head cooling was initiated within 6 hours after birth to a nasopharyngeal temperature of 34 degrees+/-0.2 degrees C and rectal temperature of 34.5 degrees to 35.0 degrees C for 72 hours. Rectal temperature was maintained at 36.0 degrees to 37.5 degrees C in the control group. Neurodevelopmental outcome was assessed at 18 months of age. The primary outcome was a combined end point of death and severe disability. RESULTS: One hundred ninety-four infants were available for analysis (100 and 94 infants in the selective head cooling and control group, respectively). For the selective head cooling and control groups, respectively, the combined outcome of death and severe disability was 31% and 49% (OR: 0.47; 95% CI: 0.26-0.84; P=.01), the mortality rate was 20% and 29% (OR:0.62; 95% CI: 0.32-1.20; P=.16), and the severe disability rate was 14% (11/80) and 28% (19/67) (OR: 0.40; 95% CI: 0.17-0.92; P=.01). CONCLUSIONS: Selective head cooling combined with mild systemic hypothermia for 72 hours may significantly decrease the combined outcome of severe disability and death, as well as severe disability.
Assuntos
Hipotermia Induzida/métodos , Hipóxia-Isquemia Encefálica/terapia , China , Feminino , Cabeça , Humanos , Recém-Nascido , Masculino , Método Simples-CegoRESUMO
The RARS2 gene encodes mitochondrial arginine-tRNA synthetase. Patients with variants of the RARS2 gene have pontocerebellar hypoplasia type 6 (PCH6), which is characterized by early onset seizures, progressive microcephaly, and developmental delay. PCH6 is a rare mitochondrial encephalopathy. To the best of our knowledge, the onset seizure type which the ictal video-electroencephalogram (VEEG) was compatible with early myoclonic encephalopathy (EME) has not been reported. Here we reported a term female neonate with EME caused by heterozygous variants of the RARS2 gene [NM_020320: exon10: c.773G>A (p. R258H) Maternal, NM_020320: exon4: c.282_285delAGAG Paternal]. Groan was the first symptom manifested, followed by metabolic disorders, and early marked cerebral atrophy. Metabolic disorders were corrected after feeding with extensively hydrolyzed protein formula. Seizures started at the 19th day of life. Interictal VEEG showed a suppression-burst (SB) pattern and ictal VEEG revealed myoclonic seizures that were compatible with early myoclonic encephalopathy (EME). She had frequent myoclonic seizures resistant to multi-antiepileptic drugs including phenobarbital, levetiracetam and oxcarbazepine, and soon developed into convulsive status epilepticus. At 7 months of age, she had severe developmental delay, and developed infantile spasms. Our case report expands the phenotypic spectrum of the PCH6, meanwhile, RARS2 should be considered be a causative gene in patients with EME.