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Revista Espanola de Salud Publica Jan 2021Thyroid hormones are essential for normal brain development, with congenital hypothyroidism (CH) being the most frequent cause of mental retardation that can be... (Review)
Review
BACKGROUND
Thyroid hormones are essential for normal brain development, with congenital hypothyroidism (CH) being the most frequent cause of mental retardation that can be prevented. The early detection of CH is of primary interest in Public Health and Preventive Medicine and is included in neonatal screening programs. In newborns detected and starting treatment in the first days of life, morbidity, mortality and possible disabilities associated with the disease are reduced. The objective of the review was to highlight the relevance of HC detection programs, to know the current situation at the national and global level and the challenges and future prospects.
METHODS
The review was based on the selection of studies and reviews of the disease and published studies of different screening programs for the detection of CH. As sources of information, bibliographic reference bases, guides and / or protocols of scientific societies, documents of technological evaluation agencies and documents of official organizations have been used.
RESULTS
In all the references consulted, it has been possible to verify based on the cases detected, positive predictive value and prevalences that the early detection of CH has been highly efficient for the diagnosis of the disease.
CONCLUSIONS
Neonatal screening for primary CH is an example of success in public health. Lines of research are needed to clarify whether other moderate forms of CH benefit from early detection and treatment.
Topics: Congenital Hypothyroidism; Humans; Infant, Newborn; Neonatal Screening; Program Evaluation; Spain
PubMed: 33496272
DOI: No ID Found -
Frontiers in Endocrinology 2022Preterm newborns are forced to adapt to harsh extrauterine conditions and endure numerous adversities despite their incomplete growth and maturity. The inadequate... (Review)
Review
Preterm newborns are forced to adapt to harsh extrauterine conditions and endure numerous adversities despite their incomplete growth and maturity. The inadequate thyroid hormones secretion as well as the impaired regulation of hypothalamus-pituitary-thyroid axis may lead to hypothyroxinemia. Two first weeks after birth are pivotal for brain neurons development, synaptogenesis and gliogenesis. The decreased level of thyroxine regardless of cause may lead to delayed mental development. Congenital hypothyroidism (CH) is a disorder highly prevalent in premature neonates and it originates from maternal factors, perinatal and labor complications, genetic abnormalities, thyroid malformations as well as side effects of medications and therapeutic actions. Because of that, the prevention is not fully attainable. CH manifests clinically in a few distinctive forms: primary, permanent or transient, and secondary. Their etiologies and implications bear little resemblance. Therefore, the exact diagnosis and differentiation between the subtypes of CH are crucial in order to plan an effective treatment. Hypothyroxinemia of prematurity indicates dynamic changes in thyroid hormone levels dependent on neonatal postmenstrual age, which directly affects patient's maintenance and wellbeing. The basis of a successful treatment relies on an early and accurate diagnosis. Neonatal screening is a recommended method of detecting CH in preterm newborns. The preferred approach involves testing serum TSH and fT4 concentrations and assessing their levels according to the cut-off values. The possible benefits also include the evaluation of CH subtype. Nevertheless, the reference range of thyroid hormones varies all around the world and impedes the introduction of universal testing recommendations. Unification of the methodology in neonatal screening would be advantageous for prevention and management of CH. Current guidelines recommend levothyroxine treatment of CH in preterm infants only when the diagnose is confirmed. Moreover, they underline the importance of the re-evaluation among preterm born infants due to the frequency of transient forms of hypothyroidism. However, results from multiple clinical trials are mixed and depend on the newborn's gestational age at birth. Some benefits of treatment are seen especially in the preterm infants born <29 weeks' gestation. The discrepancies among trials and guidelines create an urgent need to conduct more large sample size studies that could provide further analyses and consensus. This review summarizes the current state of knowledge on congenital hypothyroidism in preterm infants. We discuss screening and treatment options and demonstrate present challenges and controversies.
Topics: Congenital Hypothyroidism; Female; Humans; Infant; Infant, Newborn; Infant, Premature; Neonatal Screening; Pregnancy; Thyroid Dysgenesis; Thyroxine
PubMed: 35370986
DOI: 10.3389/fendo.2022.860862 -
American Journal of Human Genetics Sep 2022Newborn screening (NBS) dramatically improves outcomes in severe childhood disorders by treatment before symptom onset. In many genetic diseases, however, outcomes... (Review)
Review
Newborn screening (NBS) dramatically improves outcomes in severe childhood disorders by treatment before symptom onset. In many genetic diseases, however, outcomes remain poor because NBS has lagged behind drug development. Rapid whole-genome sequencing (rWGS) is attractive for comprehensive NBS because it concomitantly examines almost all genetic diseases and is gaining acceptance for genetic disease diagnosis in ill newborns. We describe prototypic methods for scalable, parentally consented, feedback-informed NBS and diagnosis of genetic diseases by rWGS and virtual, acute management guidance (NBS-rWGS). Using established criteria and the Delphi method, we reviewed 457 genetic diseases for NBS-rWGS, retaining 388 (85%) with effective treatments. Simulated NBS-rWGS in 454,707 UK Biobank subjects with 29,865 pathogenic or likely pathogenic variants associated with 388 disorders had a true negative rate (specificity) of 99.7% following root cause analysis. In 2,208 critically ill children with suspected genetic disorders and 2,168 of their parents, simulated NBS-rWGS for 388 disorders identified 104 (87%) of 119 diagnoses previously made by rWGS and 15 findings not previously reported (NBS-rWGS negative predictive value 99.6%, true positive rate [sensitivity] 88.8%). Retrospective NBS-rWGS diagnosed 15 children with disorders that had been undetected by conventional NBS. In 43 of the 104 children, had NBS-rWGS-based interventions been started on day of life 5, the Delphi consensus was that symptoms could have been avoided completely in seven critically ill children, mostly in 21, and partially in 13. We invite groups worldwide to refine these NBS-rWGS conditions and join us to prospectively examine clinical utility and cost effectiveness.
Topics: Child; Critical Illness; Genetic Testing; Humans; Infant, Newborn; Neonatal Screening; Precision Medicine; Retrospective Studies
PubMed: 36007526
DOI: 10.1016/j.ajhg.2022.08.003 -
CoDAS Feb 2019To analyze the association between ankyloglossia and breastfeeding.
PURPOSE
To analyze the association between ankyloglossia and breastfeeding.
METHODS
A cross-sectional study was undertaken on 130 newborn infants in exclusive breastfeeding with Apgar score ≥ 8 within the first five days of life. The research was approved by the Ethics Committee on Human Research. The data collection was performed by the researcher and by three trained speech therapists of the team. The protocols applied were the Neonatal Tongue Screening Test from the Lingual Frenulum Protocol for Infants, the UNICEF Breastfeeding Observation Aid, and the collection of maternal complaints related to the difficulty in breastfeeding was also considered. The data were submitted to statistical analysis - chi-square test and Fisher's exact test, with a significance level of 5%.
RESULTS
When correlating the data, the statistical analysis revealed an association between ankyloglossia and the items of suckling category of the Breastfeeding Observation Aid. The association between complaint of difficulty in breastfeeding and ankyloglossia was also seen.
CONCLUSION
On the first days of life, ankyloglossia is associated with the mother's breastfeeding complaint and with the newborn's sucking difficulty.
Topics: Ankyloglossia; Breast Feeding; Cross-Sectional Studies; Female; Humans; Infant, Newborn; Lingual Frenum; Neonatal Screening; Sucking Behavior
PubMed: 30810632
DOI: 10.1590/2317-1782/20182018264 -
The Cochrane Database of Systematic... May 2023Jaundice is a very common condition in newborns, affecting up to 60% of term newborns and 80% of preterm newborns in the first week of life. Jaundice is caused by... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Jaundice is a very common condition in newborns, affecting up to 60% of term newborns and 80% of preterm newborns in the first week of life. Jaundice is caused by increased bilirubin in the blood from the breakdown of red blood cells. The gold standard for measuring bilirubin levels is obtaining a blood sample and processing it in a laboratory. However, noninvasive transcutaneous bilirubin (TcB) measurement devices are widely available and used in many settings to estimate total serum bilirubin (TSB) levels.
OBJECTIVES
To determine the diagnostic accuracy of transcutaneous bilirubin measurement for detecting hyperbilirubinaemia in newborns.
SEARCH METHODS
We searched CENTRAL, MEDLINE, Embase, CINAHL and trial registries up to 18 August 2022. We also checked the reference lists of all included studies and relevant systematic reviews for other potentially eligible studies.
SELECTION CRITERIA
We included cross-sectional and prospective cohort studies that evaluated the accuracy of any TcB device compared to TSB measurement in term or preterm newborn infants (0 to 28 days postnatal age). All included studies provided sufficient data and information to create a 2 × 2 table for the calculation of measures of diagnostic accuracy, including sensitivities and specificities. We excluded studies that only reported correlation coefficients.
DATA COLLECTION AND ANALYSIS
Two review authors independently applied the eligibility criteria to all citations from the search and extracted data from the included studies using a standard data extraction form. We summarised the available results narratively and, where possible, we combined study data in a meta-analysis.
MAIN RESULTS
We included 23 studies, involving 5058 participants. All studies had low risk of bias as measured by the QUADAS 2 tool. The studies were conducted in different countries and settings, included newborns of different gestational and postnatal ages, compared various TcB devices (including the JM 101, JM 102, JM 103, BiliChek, Bilitest and JH20-1C) and used different cutoff values for a positive result. In most studies, the TcB measurement was taken from the forehead, sternum, or both. The sensitivity of various TcB cutoff values to detect significant hyperbilirubinaemia ranged from 74% to 100%, and specificity ranged from 18% to 89%.
AUTHORS' CONCLUSIONS
The high sensitivity of TcB to detect hyperbilirubinaemia suggests that TcB devices are reliable screening tests for ruling out hyperbilirubinaemia in newborn infants. Positive test results would require confirmation through serum bilirubin measurement.
Topics: Humans; Infant; Infant, Newborn; Bilirubin; Cross-Sectional Studies; Hyperbilirubinemia; Jaundice, Neonatal; Neonatal Screening; Prospective Studies
PubMed: 37158489
DOI: 10.1002/14651858.CD012660.pub2 -
Jornal de Pediatria 2021Inborn Errors of Immunity (IEI), also known as primary immunodeficiencies, correspond to a heterogeneous group of congenital diseases that primarily affect immune... (Review)
Review
OBJECTIVES
Inborn Errors of Immunity (IEI), also known as primary immunodeficiencies, correspond to a heterogeneous group of congenital diseases that primarily affect immune response components. The main clinical manifestations comprise increased susceptibility to infections, autoimmunity, inflammation, allergies and malignancies. The aim of this article is to review the literature on combined immunodeficiencies (CIDs) focusing on the diagnosis and treatment and the particularities of the clinical management of these patients.
SOURCE OF DATA
Critical integrative review, aimed to present articles related to primary immunodeficiencies combined with a searchin the PubMed and SciELO databases, with evaluation of publications from the last twenty years that were essential for the construction of knowledge on this group of diseases.
SUMMARY OF DATA
We highlight the main characteristics of CIDs, dividing them according to their pathophysiological mechanisms, such as defects in the development of T cells, TCR signaling, co-stimulatory pathways, cytokine signaling, adhesion, migration and organization of the cytoskeleton, apoptosis pathways, DNA replication and repair and metabolic pathways. In CIDs, clinical manifestations vary widely, from sinopulmonary bacterial infections and diarrhea to opportunistic infections, caused by mycobacteria and fungi. Neonatal screening makes it possible to suspect these diseases before clinical manifestations appear.
CONCLUSIONS
The CIDs or IEI constitute a complex group of genetic diseases with T-cell involvement. Neonatal screening for these diseases has improved the prognosis of these patients, especially in severe ones, known as SCIDs.
Topics: Humans; Immunologic Deficiency Syndromes; Infant, Newborn; Neonatal Screening; Severe Combined Immunodeficiency; T-Lymphocytes
PubMed: 33340461
DOI: 10.1016/j.jped.2020.10.014 -
[Diagnosis and follow-up of patients with congenital hypothyroidism detected by neonatal screening].Anales de Pediatria Apr 2019The screening program of congenital hypothyroidism (CH) is probably one of the best achievements in paediatrics. Thyroid hormones are essential for brain development and...
The screening program of congenital hypothyroidism (CH) is probably one of the best achievements in paediatrics. Thyroid hormones are essential for brain development and brain maturation that continue through the neonatal period. Hypothyroidism that begins in the first months of life causes irreversible damage to the central nervous system, and is one of the most frequent and preventable causes of mental retardation. As children with congenital hypothyroidism are born with a normal appearance, analytical studies are required to immediately start the appropriate therapy. This article analyses the aims, diagnostic procedures, tests required, aetiology, and differential diagnosis in this disorder. Especially relevant is to perform frequent monitoring to ensure dose adjustments of L-Thyroxine therapy, avoiding infra- or supra-dosing that negatively affects neurosensory functions. Re-evaluation of the aetiology permanent vs transient hypothyroidism is always recommended after 3years of chronological age. The relevance of this screening program should be widely discussed in paediatrics. The main objective is to avoid cerebral damage in these patients, and has been highly successful and economically beneficial. Other aspects are required to optimise patient outcomes, to perform all the controls according to the recommendations and to include, in the near future, the diagnosis of central hypothyroidism. Implementation of this program is necessary to progress in accordance with current scientific knowledge.
Topics: Aftercare; Child, Preschool; Congenital Hypothyroidism; Diagnosis, Differential; Humans; Infant; Infant, Newborn; Neonatal Screening; Thyroid Hormones
PubMed: 30686624
DOI: 10.1016/j.anpedi.2018.11.002 -
Ugeskrift For Laeger Mar 2020
Topics: Humans; Infant, Newborn; Neonatal Screening; Oximetry
PubMed: 32138822
DOI: No ID Found -
Indian Journal of Ophthalmology Feb 2020
Topics: Delivery of Health Care; Gestational Age; Global Health; Humans; Infant, Newborn; Morbidity; Neonatal Screening; Ophthalmology; Quality of Health Care; Retinopathy of Prematurity
PubMed: 31937721
DOI: 10.4103/ijo.IJO_2378_19 -
Asia-Pacific Journal of Ophthalmology... 2019Retinopathy of prematurity (ROP) is a leading cause of preventable childhood blindness worldwide. Barriers to ROP screening and difficulties with subsequent evaluation... (Review)
Review
Retinopathy of prematurity (ROP) is a leading cause of preventable childhood blindness worldwide. Barriers to ROP screening and difficulties with subsequent evaluation and management include poor access to care, lack of physicians trained in ROP, and issues with objective documentation. Digital retinal imaging can help address these barriers and improve our knowledge of the pathophysiology of the disease. Advancements in technology have led to new, non-mydriatic and mydriatic cameras with wider fields of view as well as devices that can simultaneously incorporate fluorescein angiography, optical coherence tomography (OCT), and OCT angiography. Image analysis in ROP is also being employed through smartphones and computer-based software. Telemedicine programs in the United States and worldwide have utilized imaging to extend ROP screening to infants in remote areas and have shown that digital retinal imaging can be reliable, accurate, and cost-effective. In addition, tele-education programs are also using digital retinal images to increase the number of healthcare providers trained in ROP. Although indirect ophthalmoscopy is still an important skill for screening, digital retinal imaging holds promise for more widespread screening and management of ROP.
Topics: Health Services Accessibility; Humans; Image Processing, Computer-Assisted; Infant, Newborn; Neonatal Screening; Ophthalmoscopy; Reproducibility of Results; Retinopathy of Prematurity; Telemedicine; Tomography, Optical Coherence
PubMed: 31037876
DOI: 10.22608/APO.201963