keyword
https://read.qxmd.com/read/38391361/extensive-intramural-calcification-in-neonatal-ileal-atresia-an-unusual-finding
#21
JOURNAL ARTICLE
Pallavi Prasad, Paturu Radha, Basant Kumar, Pujana Kanneganti
No abstract text is available yet for this article.
July 26, 2023: Indian Journal of Pathology & Microbiology
https://read.qxmd.com/read/38391190/rapid-systematic-review-of-interventions-to-improve-antenatal-screening-rates-for-syphilis-hepatitis-b-and-hiv-in-low-and-middle-income-countries
#22
REVIEW
J Harrison, P Lind, S Sawleshwarkar, D Pasupathy, H M Yapa
BACKGROUND: Infectious diseases including syphilis, HIV, and hepatitis B are major contributors to maternal and neonatal morbidity and mortality worldwide, especially in low- and middle-income countries (LMICs). The World Health Organization has prioritized elimination of vertical transmission of these three diseases. OBJECTIVES: To rapidly assess the impact of interventions designed to improve antenatal screening rates for syphilis, HIV, and hepatitis B in LMICs and to identify areas for future implementation research...
February 23, 2024: International Journal of Gynaecology and Obstetrics
https://read.qxmd.com/read/38391188/maternal-and-congenital-human-cytomegalovirus-infection-laboratory-testing-for-detection-and-diagnosis
#23
REVIEW
Amy L Leber
Human cytomegalovirus (CMV) is the leading cause of congenital infection worldwide and the most common cause of non-genetic sensorineural hearing loss. As there is no vaccine or other specific intervention to prevent congenital CMV infection, there is a need to identify maternal and congenital infections with sensitive and specific testing as early as possible. There is no widely accepted practice for screening during pregnancy or in all newborns for identification of possible cases of congenital CMV. Currently, screening during pregnancy is limited to those identified as at risk followed by fetal and/or neonatal testing when congenital infection is suspected...
February 23, 2024: Journal of Clinical Microbiology
https://read.qxmd.com/read/38390980/history-of-neonatal-screening-of-congenital-hypothyroidism-in-portugal
#24
JOURNAL ARTICLE
Maria José Costeira, Patrício Costa, Susana Roque, Ivone Carvalho, Laura Vilarinho, Joana Almeida Palha
Congenital hypothyroidism (CH) leads to growth and development delays and is preventable with early treatment. Neonatal screening for CH was initiated in Portugal in 1981. This study examines the history of CH screening in the country. Data were obtained from annual reports and from the national database of neonatal screening laboratory. The CH screening strategy primarily relies on the thyroid-stimulating hormone (TSH), followed by total thyroxine measurement as the second tier for confirmation. The TSH cutoff started at 90 mIU/L, decreasing to the actual 10 mIU/L...
February 20, 2024: International Journal of Neonatal Screening
https://read.qxmd.com/read/38390979/using-the-c14-1-medium-chain-acylcarnitine-ratio-instead-of-c14-1-to-reduce-false-positive-results-for-very-long-chain-acyl-coa-dehydrogenase-deficiency-in-newborn-screening-in-japan
#25
JOURNAL ARTICLE
Go Tajima, Junko Aisaki, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Fumiaki Sakura, Hideo Sasai, Miori Yuasa, Yosuke Shigematsu, Satoshi Okada
Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a long-chain fatty acid oxidation disorder that manifests as either a severe phenotype associated with cardiomyopathy, a hypoglycemic phenotype, or a myopathic phenotype. As the hypoglycemic phenotype can cause sudden infant death, VLCAD deficiency is included in newborn screening (NBS) panels in many countries. The tetradecenoylcarnitine (C14:1) level in dried blood specimens is commonly used as a primary marker for VLCAD deficiency in NBS panels...
February 20, 2024: International Journal of Neonatal Screening
https://read.qxmd.com/read/38390978/impact-of-cytomegalovirus-cmv-on-an-academic-pediatric-infectious-diseases-outpatient-clinic-referral-population-2005-2020-will-the-advent-of-universal-congenital-cmv-ccmv-screening-change-clinical-practice-referral-patterns
#26
JOURNAL ARTICLE
Katelyn J Rypka, Mark R Schleiss
Cytomegalovirus (CMV) infections exert a substantial impact on the practice of pediatric infectious diseases. Although most infections in children are minimally symptomatic, several populations are at risk for CMV-associated disease, including immunosuppressed children, children with HIV infection, and, most significantly, children with congenital CMV (cCMV) infection. In spite of the ubiquitous nature of CMV infection, few studies have quantified the impact of CMV-associated care in a pediatric outpatient clinic setting...
February 15, 2024: International Journal of Neonatal Screening
https://read.qxmd.com/read/38390977/stakeholder-views-of-the-proposed-introduction-of-next-generation-sequencing-into-the-cystic-fibrosis-screening-protocol-in-england
#27
JOURNAL ARTICLE
Pru Holder, Corinna C Clark, Louise Moody, Felicity K Boardman, Jacqui Cowlard, Lorna Allen, Claire Walter, James R Bonham, Jane Chudleigh
The project aimed to gather, analyse, and compare the views of stakeholders about the proposed UK cystic fibrosis (CF) screening protocol incorporating next generation sequencing (NGS). The study design was based on principles of Q-methodology with a willingness-to-pay exercise. Participants were recruited from 12 CF centres in the UK. The study contained twenty-eight adults who have experience with CF (parents of children with CF ( n = 21), including parents of children with CF transmembrane conductance regulator (CFTR)-related metabolic syndrome (CRMS)/CF screen positive-inconclusive diagnosis (CFSPID), an uncertain outcome ( n = 3), and adults with CF ( n = 4)), and nine health professionals involved in caring for children with CF...
February 14, 2024: International Journal of Neonatal Screening
https://read.qxmd.com/read/38390976/past-as-prologue-predicting-potential-psychosocial-ethical-burdens-of-positive-newborn-screens-as-conditions-propagate
#28
JOURNAL ARTICLE
Lynn W Bush, Harvey L Levy
We look to the past as prologue for guidance in predicting and circumventing potential psychosocial-ethical challenges, including those that may influence the attachment process for some parents. We consider the evolution of bioethics and developmental psychology as they intersect with newborn screening while exploring potential implications of positive findings, be they false positives, true positives, or secondary as well as incidental findings. We reflect on navigating the complex landscape that may be significantly impacted by variable phenotypes, the age of onset, and uncertain prognoses, mindful of the diagnostic odyssey continuum ...
February 6, 2024: International Journal of Neonatal Screening
https://read.qxmd.com/read/38390975/leading-risk-factors-for-congenital-deafness-in-the-context-of-universal-neonatal-screening-our-observations-in-a-four-year-retrospective-study
#29
JOURNAL ARTICLE
Antoine Paul, Fanny Bense, Claire Boithias Guerot, Sofia De La Rubia, Cécile Lebeaux, Jean-François Papon
It has been demonstrated that universal hearing neonatal screening (UHNS) is efficient at providing early diagnosis and rehabilitation for deafness. The risk factors of deafness in children have been identified, but less specifically in those diagnosed after UHNS. In this study, we aim to study these factors in infants who were referred after screening and to compare our experience to recent data. We studied infants referred to our department for diagnosis after screening between January 2018 and December 2021...
January 30, 2024: International Journal of Neonatal Screening
https://read.qxmd.com/read/38390974/newborn-screening-for-krabbe-disease-status-quo-and-recommendations-for-improvements
#30
JOURNAL ARTICLE
Dietrich Matern, Khaja Basheeruddin, Tracy L Klug, Gwendolyn McKee, Patricia U Edge, Patricia L Hall, Joanne Kurtzberg, Joseph J Orsini
Krabbe disease (KD) is part of newborn screening (NBS) in 11 states with at least one additional state preparing to screen. In July 2021, KD was re-nominated for addition to the federal Recommended Uniform Screening Panel (RUSP) in the USA with a two-tiered strategy based on psychosine (PSY) as the determinant if an NBS result is positive or negative after a first-tier test revealed decreased galactocerebrosidase activity. Nine states currently screening for KD include PSY analysis in their screening strategy...
January 28, 2024: International Journal of Neonatal Screening
https://read.qxmd.com/read/38390973/establishment-of-a-pilot-newborn-screening-program-for-spinal-muscular-atrophy-in-saint-petersburg
#31
JOURNAL ARTICLE
Anton Kiselev, Marianna Maretina, Sofia Shtykalova, Haya Al-Hilal, Natalia Maslyanyuk, Mariya Plokhih, Elena Serebryakova, Marina Frolova, Natalia Shved, Nadezhda Krylova, Arina Il'ina, Svetlana Freund, Natalia Osinovskaya, Iskender Sultanov, Anna Egorova, Anastasia Lobenskaya, Alexander Koroteev, Irina Sosnina, Yulia Gorelik, Olesya Bespalova, Vladislav Baranov, Igor Kogan, Andrey Glotov
Spinal muscular atrophy 5q (SMA) is one of the most common neuromuscular inherited diseases and is the most common genetic cause of infant mortality. SMA is associated with homozygous deletion of exon 7 in the SMN1 gene. Recently developed drugs can improve the motor functions of infants with SMA when they are treated in the pre-symptomatic stage. With aim of providing an early diagnosis, newborn screening (NBS) for SMA using a real-time PCR assay with dried blood spots (DBS) was performed from January 2022 through November 2022 in Saint Petersburg, which is a representative Russian megapolis...
January 25, 2024: International Journal of Neonatal Screening
https://read.qxmd.com/read/38390972/experiences-and-challenges-with-congenital-hypothyroidism-newborn-screening-in-indonesia-a-national-cross-sectional-survey
#32
JOURNAL ARTICLE
Aman Bhakti Pulungan, Helena Arnetta Puteri, Muhammad Faizi, Paul Leslie Hofman, Agustini Utari, Jean-Pierre Chanoine
The expansion of newborn screening (NBS) for congenital hypothyroidism (CH) is essential to reducing the number of preventable intellectual disabilities in children. Because of logistical issues, including geographic extremes, distinct cultures, and 4.8 million births annually, Indonesia has struggled to achieve universal NBS coverage. A national cross-sectional electronic survey was conducted to explore challenges in CH NBS. Responses from 423 healthcare professionals and program administrators across 30 provinces in Indonesia were collected...
January 19, 2024: International Journal of Neonatal Screening
https://read.qxmd.com/read/38390906/long-term-effects-of-neuraxial-analgesia
#33
JOURNAL ARTICLE
Rachel J Kearns, Malcolm A Broom, Dominique N Lucas
PURPOSE OF REVIEW: This review article explores the potential longer-term implications of neuraxial analgesia in labour for both the mother and her child. RECENT FINDINGS: Neuraxial techniques for labour analgesia are well tolerated and effective, and long-term adverse sequelae are rare. Labour epidural analgesia is not independently associated with long-term headache, backache, postnatal depression or anal sphincter injury, and evidence supports that epidurals may offer protection against severe maternal morbidity, particularly in women at a higher risk of complications...
February 22, 2024: Current Opinion in Anaesthesiology
https://read.qxmd.com/read/38390577/unusual-case-of-diffuse-neonatal-hemangiomatosis-case-report-and-literature-review
#34
Fatima Zahrae El Mansoury, Zakia El Yousfi, Mohamed Ismail Halfi, Najlae Lrhorfi, Nazik Allali, Latifa Chat
Diffuse neonatal hemangiomatosis (DNH) is an infrequent condition characterized by the simultaneous occurrence of multiple cutaneous hemangiomas and the involvement of 3 or more organs. DNH is suspected when multiple hemangiomas are identified on the skin of the infant. Although it is benign in nature, DNH can lead to critical and life-threatening complications. Diagnosis primarily relies on clinical evaluation with a significant emphasis on imaging techniques. In this case report, we present an unusual pediatric case of diffuse infantile hemangioendothelioma, for which the investigative approach included ultrasound and CT scans...
2024: Global Pediatric Health
https://read.qxmd.com/read/38390571/the-value-of-lung-ultrasound-score-in-neonatal-respiratory-distress-syndrome-a-prospective-diagnostic-cohort-study
#35
JOURNAL ARTICLE
Chunyan Huang, Shaoqin Zhang, Xiaoming Ha, Yanfang Cui, Hongxia Zhang
RATIONALE: The accurate diagnosis of critically ill patients with respiratory failure can be achieved through lung ultrasound (LUS) score. Considering its characteristics, it is speculated that this technique might also be useful for patients with neonatal respiratory distress syndrome (NRDS). Thus, there is a need for precise imaging tools to monitor such patients. OBJECTIVES: This double-blind randomized cohort study aims to investigate the impact of LUS and related scores on the severity of NRDS patients...
2024: Frontiers in Medicine
https://read.qxmd.com/read/38390341/role-of-innate-t-cells-in-necrotizing-enterocolitis
#36
REVIEW
Jianyun Liu, Sharon Joseph, Krishna Manohar, Jasmine Lee, John P Brokaw, W Christopher Shelley, Troy A Markel
Necrotizing enterocolitis (NEC) is a destructive gastrointestinal disease primarily affecting preterm babies. Despite advancements in neonatal care, NEC remains a significant cause of morbidity and mortality in neonatal intensive care units worldwide and the etiology of NEC is still unclear. Risk factors for NEC include prematurity, very low birth weight, feeding with formula, intestinal dysbiosis and bacterial infection. A review of the literature would suggest that supplementation of prebiotics and probiotics prevents NEC by altering the immune responses...
2024: Frontiers in Immunology
https://read.qxmd.com/read/38390338/il-27-alters-inflammatory-cytokine-expression-and-limits-protective-immunity-against-mycobacterium-tuberculosis-in-a-neonatal-bcg-vaccination-model
#37
JOURNAL ARTICLE
Shelby D Bradford, Kenneth J Ryan, Ashley M Divens, Jessica M Povroznik, Sunilkanth Bonigala, Cory M Robinson
BACKGROUND: Efforts to control tuberculosis (TB), caused by the pathogen Mycobacterium tuberculosis (Mtb), have been hampered by the immense variability in protection from BCG vaccination. While BCG protects young children from some forms of TB disease, long-term protection against pulmonary disease is more limited, suggesting a poor memory response. New vaccines or vaccination strategies are required to have a realistic chance of eliminating TB disease. In TB endemic areas, routine immunization occurs during the neonatal period and as such, we hypothesized that inadequate protective immunity elicited by BCG vaccination could be the result of the unique early-life immune landscape...
2024: Frontiers in Immunology
https://read.qxmd.com/read/38390276/prevalence-and-determinants-of-adverse-perinatal-outcomes-of-preeclampsia-with-severe-features-at-two-selected-public-hospitals-in-addis-ababa-ethiopia
#38
JOURNAL ARTICLE
Mesfin Tadese, Wogene Asefa Damesa, Gebeyehu Shumet Solomon, Girma Wogie Fitie, Yohannes Moges Mitiku, Saba Desta Tessema, Agizew Endale
BACKGROUND: Preeclampsia is a new onset of hypertension and either proteinuria or end-organ failure after 20 weeks of gestation. It is a prevalent cause of perinatal mortality, morbidity, and neonatal complications in developing nations including Ethiopia. Thus, the aimed to assess the prevalence and determinants of adverse perinatal outcomes among women with preeclampsia with severity features (PEWSF) at two selected public hospitals in Addis Ababa, Ethiopia, 2023. METHOD: A cross-sectional study was carried out among 348 mothers between January 1, 2023, and July 1, 2023...
2024: Frontiers in Pediatrics
https://read.qxmd.com/read/38389529/gut-microbiota-of-preterm-infants-in-the-neonatal-intensive-care-unit-a-study-from-a-tertiary-care-center-in-northern-india
#39
JOURNAL ARTICLE
Prabavathi Devarajalu, Jogender Kumar, Sourabh Dutta, Savita Verma Attri, Jayakanthan Kabeerdoss
INTRODUCTION: Disruptions of the gut microbiota of preterm infants admitted to the neonatal intensive care unit (NICU) during the first 2 weeks of life are of critical importance. These infants are prone to various complications, including necrotizing enterocolitis (NEC) and sepsis. Studying the gut microbiota will improve outcomes in preterm infants. In the present study, we examined the gut microbiota of preterm infants admitted to the NICU in the first month of life. METHODS: Neonates admitted to the NICU were recruited, and stool samples were collected weekly from the seventh day of the infant's life until the 30th day of life...
2024: Frontiers in Microbiology
https://read.qxmd.com/read/38389487/outcomes-of-delayed-chest-closure-after-congenital-heart-surgery-in-neonates
#40
JOURNAL ARTICLE
Meletios Kanakis, George Samanidis, Kyriaki Kolovou, Sotirios Katsaridis, Athina Maria Sait, Georgios Kourelis, Nicholas Giannopoulos, Dimitrios Bobos
We present the outcomes of delayed chest closure in neonates who underwent congenital heart surgery under cardiopulmonary bypass. Eighty-one consecutive neonatal patients (age ≤ 28 days) with congenital heart diseases who underwent heart operations and after surgery, chest remained open in the intensive care unit until DCC. Correction of transposition of the great arteries pathology was the most common surgical procedure (48.1% of patients). Median sternal closure time from surgery was 3 (2-4) days. Median age of neonates was 9 (5-12) days...
February 22, 2024: La Pediatria Medica e Chirurgica: Medical and Surgical Pediatrics
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