Journal of Pediatric and Neonatal Individualized Medicine最新文献

{"title":"The importance of screening for critical and severe congenital cardiac diseases by pulse oximetry in the early neonatal age – Position statement of the Hellenic Society of Perinatal Medicine (HSPM)","authors":"A. Petropoulos, George Daskalakis, F. Anatolitou, M. Eleftheriadis, P. Antsaklis, Athina Moutafi, P. Petropoulos, A. Varvarigou, Antonia Charitou","doi":"10.7363/100211","DOIUrl":"https://doi.org/10.7363/100211","url":null,"abstract":"Background: From its first reported use in 2002, the efficiency of pulse oximetry (POX) screening in detecting critical and severe congenital heart disease (c/s-CHD) in term neonates in early days after delivery has been proved by numerous studies. It is low-cost, non-invasive, easy to use, repeatable, time-saving, applicable by even less-skilled nursing staff, proven to have excellent sensitivity and high specificity. When used in addition to the initial physician’s examination before dismissing a newborn home, this postnatal test can increase the clinical accuracy of detecting c/s-CHD. In this sense, it must be used as an early detecting screening test. Its use is more important during the period in which the patent ductus arteriosus (PDA) conceals the signs and symptoms of low cardiac output syndrome (LCOs) or severe cyanosis that will lead to notably hypoxia and acidosis. These free-of-symptoms babies that leave maternity units although critically ill, as well as those that are born at home and assessed by primary care, will benefit the most through a compulsory use of this test. Despite the benefits, it has failed to become a universal screening test for early detection of c/s-CHD, especially in Europe.\u0000Aim: To discuss the existing evidence on safe, effective, and efficient screening, using POX in combination with initial pre-discharge physical examination at the end of its stay under maternity services, including births out of medical facilities, for every term baby as a compulsory health screening test in Greece.\u0000Methods: The authors, members of the Hellenic Society of Perinatal Medicine (HSPM), reviewed the existing up-to-date literature and the trend of using this test worldwide and especially in European countries. They also consulted with pioneers and experts in the field.\u0000Results: Based on published data, the authors clarify existing policies of using POX and initial clinical assessment, aiming to a standardized approach of screening and diagnostic follow-up, when needed. Key issues for future research and evaluation were identified and addressed.\u0000Conclusions: The authors clarify existing policies in the use of POX, aiming to suggest the most appropriate way of using the test for compulsory screening term newborns during the early neonatal period in Greece. Special conditions of screening are being discussed. Public health organizations and private health agencies will have an important role in quality assurance and surveillance of this screening test aiming to significantly reduce morbidity and mortality from c/s-CHD in Greece.","PeriodicalId":51914,"journal":{"name":"Journal of Pediatric and Neonatal Individualized Medicine","volume":"10 1","pages":""},"PeriodicalIF":0.4,"publicationDate":"2021-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42245856","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Seven secrets of COVID-19: fever, ACE2 receptors, gut-lung axis, metabolomics, microbiomics, probiotics, diet","authors":"V. Fanos, R. Pintus, Maria Cristina Pintus, M. Mussap, M. A. Marcialis","doi":"10.7363/100145","DOIUrl":"https://doi.org/10.7363/100145","url":null,"abstract":"The aim of this work is to investigate 7 secrets of COVID-19 (fever, ACE2 receptors, gut-lung axis, metabolomics, microbiomics, probiotics, diet), hoping to reveal a small part of some of these and to increase anyhow the knowledge on SARS-CoV-2 and its weaknesses to be able to defeat it.\u0000In particular, in the opinion of the authors, significant improvements in contrasting the Coronavirus, and the pandemics that will follow, could derive from the use of “omics” disciplines, namely metabolomics (the stethoscope of the future) and microbiomics (an unrecognized player).\u0000The discovery of new biomarkers using metabolomics could be used in clinical practice as predictive diagnostic tools or to evaluate the effectiveness and toxicity of a drug, in order to be able to provide the patient with a personalized, tailor-made medicine: precision medicine.\u0000Our understanding of the role of the gut microbiome in COVID-19 infection remains in its infancy, but future research may potentially aid our understanding of viral infection, and create new ways in which we might treat and prevent it.\u0000We strongly believe that the 3 M’s (Metabolomics, Microbiomics and Machine learning [Artificial Intelligence]) will be the right route to the future for risk assessment, early diagnosis, patient management and decision-making.\u0000By now, probiotics could help, fighting face to face against the virus. Moreover, the diet may be a key driver in determining the severity of COVID-19 and further studies are needed to explore the secret language between diet, bacteria, viruses and metabolites in determining individualized susceptibility or resilience to COVID-19.","PeriodicalId":51914,"journal":{"name":"Journal of Pediatric and Neonatal Individualized Medicine","volume":"10 1","pages":"1-18"},"PeriodicalIF":0.4,"publicationDate":"2021-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47251235","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An urgent need to review the approach to a febrile child in the COVID-19 era?","authors":"R. D'Souza, J. Freitas, V. Rainsley, F. Mason, J. Kenny, Jessica Thomas","doi":"10.7363/100103","DOIUrl":"https://doi.org/10.7363/100103","url":null,"abstract":"Background: There have been reports of a new hyperinflammatory syndrome in children defined as the Paediatric Inflammatory Multisystem Syndrome temporally associated with COVID-19 (PIMS-TS). Our hospital has experienced a great proportion of children attending an Emergency Department (ED) with possible PIMS-TS so far reported in the UK. Objectives: We describe the clinical and biochemical findings in children with possible PIMS-TS in the context of a local ED. Settings: Queen Elizabeth Hospital (QEH), Woolwich, a District General Hospital (DGH) in South London. Participants: From 14th March to 18th May 2020, children presenting to QEH and transferred to tertiary care for possible PIMS-TS, with a history of fever and hyperinflammatory symptoms, raised inflammatory markers and without a clear clinical or microbial cause were identified. Demographic data, clinical and laboratory data were recorded as median [range]. Results: 17 children (12 male) were identified aged 11 [1-16] years. 17/17 had a fever; other common symptoms were conjunctival injection, rash and gastrointestinal symptoms. Lymphopenia and raised inflammatory markers were evident. 15/17 were tested with nasopharyngeal and oropharyngeal SARS-CoV-2 PCR swabs and 15/15 were negative. Before transfer, one child required intubation and four required inotropes. All children were transferred to a tertiary unit, 10 within the first 24 hours. After transfer, 2/17 had microbial causes evident on urine/stool culture. Conclusions: PIMS-TS is proving challenging to diagnose in a DGH ED because of heterogeneity of symptoms and laboratory markers, overlapping with other diseases, and cardiac complications despite deceptively benign presentations. There is an urgent need to review the approach to a febrile child in this setting, to optimise identification of PIMS-TS. Prognostic markers and risk stratification methods would help paediatricians working in the ED and general paediatric wards.","PeriodicalId":51914,"journal":{"name":"Journal of Pediatric and Neonatal Individualized Medicine","volume":"10 1","pages":"1-7"},"PeriodicalIF":0.4,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71290927","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Conservative management of paraphimosis via telecommunication: an option in the COVID-19 era?","authors":"A. Alyanak, O. U. Cakici","doi":"10.7363/090235","DOIUrl":"https://doi.org/10.7363/090235","url":null,"abstract":"Paraphimosis is a urological emergency that is best managed by a manual reduction or incision of the narrowed band when manual reduction has failed. Facilitator options for this reduction are proposed, which are mostly involved in creating a hyperosmolar environment to decrease edema in the trapped prepuce. However, all series to date and the best of the authors’ knowledge have reported the reduction of the paraphimosis at hospital admission, either by manual maneuver or surgical interventions. In this report, we present two paraphimosis cases that were successfully managed by parent-education, close observation via telecommunication, and locally applied steroid and antihistaminic therapy.","PeriodicalId":51914,"journal":{"name":"Journal of Pediatric and Neonatal Individualized Medicine","volume":" ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2020-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49320010","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The importance of laboratory medicine in the era of COVID-19 pandemic: a challenge for patients, pediatricians, obstetricians, and clinical pathologists","authors":"M. Mussap","doi":"10.7363/090201","DOIUrl":"https://doi.org/10.7363/090201","url":null,"abstract":"The dramatic and rapid widespread of the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) infection is causing millions of infected subjects and thousand of deaths worldwide. The current global goal is to mitigate or suppress the burden of COronaVIrus Disease 2019 (COVID-19) and to adopt effective targeted therapies. Laboratory tests include molecular diagnostics and viral antigens recognition for the identification of SARS-CoV-2 in human biological materials, serologic methods for detecting serum antibodies against SARS-CoV-2 and routine blood and urine tests. Many molecular tests, mainly based on real-time polymerase chain reaction (RT-PCR), have been developed after the publication of the SARS-CoV-2 full-length genome sequence; several factors may affect their accuracy, including inadequate sample collection, thermal inactivation, viral load, and cross-reactivity. In-vitro diagnostic (IVD) companies have developed serologic methods optimized on high throughput analytical platforms; however very few methods currently detect IgM and the accurate quantitative measurement of antibodies are not still ready. Sensitivity and specificity require robust validation; point of care (POC) lateral flow immunochromatographic assays are far to be highly sensitive and specific and data obtained by these methods should be evaluated with caution. The effectiveness of serologic tests depends on the appropriateness of test request too. Routine biochemical data in adults with COVID-19 reveal alterations of various tests, including lymphopenia, thrombocytopenia, hypoalbuminemia, and serum elevation of several biomarkers, including D-dimer, ferritin, C-reative protein (CRP), cytokines. Cardiac troponins and N-terminal pro-brain natriuretic peptide (NT-pro BNP) are predictors of adverse outcome and death. Vertical transmission of SARS-CoV-2 has been not yet demonstrated exhaustively. Regrettably, in pregnant women, newborns and children with COVID-19, very limited and confusing data hamper a definitive conclusion on the value of routine laboratory tests. Emerging opportunities arise from the introduction of microbiomics, metabolomics, and pharmacometabolomics for improving patient’s care and outcome.","PeriodicalId":51914,"journal":{"name":"Journal of Pediatric and Neonatal Individualized Medicine","volume":" ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2020-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46165753","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lung microbiota in the acute respiratory disease: from coronavirus to metabolomics","authors":"V. Fanos, Maria Cristina Pintus, R. Pintus, M. A. Marcialis","doi":"10.7363/090139","DOIUrl":"https://doi.org/10.7363/090139","url":null,"abstract":"Healthy lungs are not sterile. In the last decade, it was demonstrated that the healthy lung has its specific microbiota. It is much smaller in numerical terms, compared to the gut microbiota, but it is a unique microbiota that can affect the health and the diseases. With an estimated number of 10-100 bacteria for 1.000 human cells, the lower respiratory tract is one of the less populated surfaces by the bacteria of the whole human body. Even human fetal lungs host a “signature” of the microbiota. The composition of the lung microbiota depends on several factors, including the so-called “microbial immigration” from micro-aspiration and inhalation of microorganisms.The connection between the lung and the gastrointestinal tract is not entirely understood. Patients with respiratory infections generally have gut dysfunctions complications, which are related to a more severe clinical course, thus indicating gut-lung crosstalk. In this review we analyse the lung microbiota in newborns, infants and adults with respiratory disease. In acute pulmonary diseases such as sepsis, trauma, and acute respiratory distress syndrome (ARDS), the lung microbiota becomes rich in gut bacteria, such as Bacteroidetes and Enterobacteriaceae. This phenomenon is also called “more gut in the lung”. In acute situations, the gut becomes hyper-permeable (leaky gut), and the bacteria can translocate through the colon wall and reach the lung affecting the inflammation, the infection, and the acute pulmonary damage. The increased gut permeability is associated with an increased alveolus-capillary hyper-permeability as well.There are tight correlations between the lung microbiota and the admission in intensive care. In particular, the modifications of the lung microbiota can help in predicting in which way the patients in critical condition will respond to the treatments. It has been investigated if the different incidence depending on age and the different courses between adults and children for Novel COronaVIrus Disease 2019 (COVID-19) could be due to the different concentrations and/or activation of angiotensin-converting enzyme 2 (ACE2) at the intestinal and pulmonary level. ACE2 is mainly localized on the luminal surface of the intestinal epithelial cells and it has been hypothesized that gut microbiota influences the action of ACE2. Thus, a close relationship between COVID-19 and the microbiota can be hypothesized (it has been studied in cats). Potential interventions for COVID-19 are: nutritional, antiviral, anti-coronavirus, and miscellanea. Other options could include also probiotics, especially Bifidobacteria and Lactobacilli, namely L. gasseri. In the next future, metabolomics could be applied in the study of COVID-19, deciphering the secret languages between viruses, bacteria and the organism.","PeriodicalId":51914,"journal":{"name":"Journal of Pediatric and Neonatal Individualized Medicine","volume":" ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2020-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45421925","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transient abnormal myelopoiesis without constitutional Down syndrome","authors":"Igne Kairiene, V. Dirsė, U. Mickys, Audrone Muleviciene, P. Vyas, J. Rascon","doi":"10.7363/090104","DOIUrl":"https://doi.org/10.7363/090104","url":null,"abstract":"Transient abnormal myelopoiesis (TAM) is a unique entity that usually occurs in children with Down syndrome (DS) or with trisomy 21 mosaicism. The somatic GATA1 mutation is a distinct feature of TAM. At presentation, TAM can resemble congenital leukemia (CL), which unlike TAM has an extremely poor prognosis and requires prompt therapeutic interventions. Therefore, correct and timely distinction between the two entities is crucial. We report a case of a phenotypically normal infant diagnosed with CL during the first weeks of life that retrospectively was reassessed as TAM. No acute myeloid leukemia (AML) specific mutations were found except for trisomy 21 confined exclusively to leukemic blasts. Retrospectively GATA1 mutation was also detected in malignant cells, but somatic genome appeared to be intact.","PeriodicalId":51914,"journal":{"name":"Journal of Pediatric and Neonatal Individualized Medicine","volume":"9 1","pages":""},"PeriodicalIF":0.4,"publicationDate":"2020-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45025541","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"COVID-19 in newborns and in children: the state of the art","authors":"Valentina Paraluppi, Maria Cristina Pintus, V. Fanos, M. A. Marcialis","doi":"10.7363/090138","DOIUrl":"https://doi.org/10.7363/090138","url":null,"abstract":"Novel COronaVIrus Disease 2019 (COVID-19) is an emerging disease of public health concern because it is caused by a newly identified pathogen, against which humans have no pre-existing immunity. Since its outbreak, a growing number of studies have examined COVID-19 in adults, but the data on its epidemiological and clinical characteristics in newborns and in children are few and patchy. Children appear to develop moderate-mild or silent forms of the disease; to our knowledge, only two cases of death (a 14-year-old and a 16-year-old teenagers) have been reported. Arguably, the number of pediatric cases may be underestimated, since presumably cases with mild or no symptoms are not brought to the doctor’s attention. We have selected the most interesting and significant papers (including some pre-publication or ahead-of-print papers). The key factors in the pathophysiology of COVID-19, available data on pregnancy, the neonatal period, and later are discussed. A review of pediatric cases is available and 3 practical algorithms help the reader in clinical choices. Finally, diagnostic criteria and treatment are presented.","PeriodicalId":51914,"journal":{"name":"Journal of Pediatric and Neonatal Individualized Medicine","volume":" ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2020-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46559420","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Incidence and risk factors for moderate and severe bronchopulmonary dysplasia in very low birth weight infants in two Croatian perinatal regions – a retrospective cohort study","authors":"Darjan Kardum, B. Filipović-Grčić, Andrijana Müller, S. Dessardo","doi":"10.7363/080129","DOIUrl":"https://doi.org/10.7363/080129","url":null,"abstract":"Introduction: Bronchopulmonary dysplasia (BPD) is a significant cause of mortality and morbidity in preterm infants. The incidence of BPD varies widely between centers and is found in 20% to 40% of very low birth weight (VLBW) infants. Our work aimed to examine the incidence and risk factors for moderate and severe BPD in a population of VLBW infants. Materials and methods: Demographic data, risk factors, incidence and severity of BPD were analyzed for 178 VLBW infants treated in two Croatian perinatal regions (2 level III neonatal units, 2 level II neonatal units and 5 level I neonatal wards) in the period from January 1, 2014 to December 31, 2016. Results: The rate of BPD was 59.6% (106/178) which is significantly higher than reported earlier. Mild BPD accounted for 65.1% (69/106) and moderate/severe BPD is found in 34.9% (37/106) infants. Among infants with ≤ 28 weeks of gestation, the rate of moderate and severe BPD was 40.5% (30/74). Ultimate risk factors for the development of moderate/severe BPD were late-onset sepsis (p = 0.03; OR [95% CI]: 4.76 [1.22-18.5]), and higher initial neonatal risk as expressed by Critical Risk Index for Babies (CRIB) score (p < 0.001; OR [95% CI]: 1.73 [1.32-2.29]). Conclusion: The incidence of moderate and severe BPD in our study group is higher than previously reported, and the majority of affected infants are < 29 weeks of gestation. The factors that had the strongest influence on the development of moderate and severe BPD were a higher initial neonatal risk as expressed by CRIB score and late-onset sepsis.","PeriodicalId":51914,"journal":{"name":"Journal of Pediatric and Neonatal Individualized Medicine","volume":"8 1","pages":""},"PeriodicalIF":0.4,"publicationDate":"2019-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44775653","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Challenges in the management of short stature","authors":"pNashwa Mohamed Baha Elddinp","doi":"10.4172/2572-4983-C1-011","DOIUrl":"https://doi.org/10.4172/2572-4983-C1-011","url":null,"abstract":"","PeriodicalId":51914,"journal":{"name":"Journal of Pediatric and Neonatal Individualized Medicine","volume":"156 1","pages":""},"PeriodicalIF":0.4,"publicationDate":"2019-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88449676","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}