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1.
Afr Health Sci ; 24(1): 228-238, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38962342

ABSTRACT

Background: Early detection of hearing loss and subsequent intervention leads to better speech, language and educational outcomes giving way to improved social economic prospects in adult life. This can be achieved through establishing newborn and infant hearing screening programs. Objective: To determine the prevalence of hearing loss in newborns and infants in Nairobi, Kenya. Methods: A cross-sectional pilot study was conducted at the National hospital and at a sub county hospital immunization clinic. A total of 9,963 babies aged 0-3 years, were enrolled in the hearing screening program through convenient sampling over a period of nine months. A case history was administered followed by Distortion Product Oto-acoustic emissions (DPOAEs) and automated auditory brainstem response (AABR) hearing screening. Results: The screening coverage rate was 98.6% (9963/10,104). The referral rate for the initial screen was 3.6% (356/ 9,963), the return rate for follow-up rescreening was 72% (258 babies out of 356) with a lost to follow-up rate of 28% (98/356). The referral rate of the second screen was 10% (26/258). All the 26 babies referred from the second screen returned for diagnostic hearing evaluation and were confirmed with hearing loss, yielding a prevalence of 3/1000. Conclusions: Establishing universal newborn and infant hearing screening programs is essential for early detection and intervention for hearing loss. Data management and efficient follow-up systems are an integral part of achieving diagnostic confirmation of hearing loss and early intervention.


Subject(s)
Early Diagnosis , Hearing Loss , Hearing Tests , Neonatal Screening , Humans , Kenya/epidemiology , Infant, Newborn , Hearing Loss/diagnosis , Hearing Loss/epidemiology , Infant , Neonatal Screening/methods , Cross-Sectional Studies , Female , Pilot Projects , Male , Hearing Tests/methods , Prevalence , Child, Preschool , Mass Screening/methods , Evoked Potentials, Auditory, Brain Stem
2.
Mol Genet Metab Rep ; 40: 101099, 2024 Sep.
Article in English | MEDLINE | ID: mdl-38962402

ABSTRACT

Background: Those diagnosed with PKU in the early years of newborn screening (NBS) were often discharged from clinic in childhood. Long-term lost to clinic patients may be impacted by untreated PKU and uninformed about current recommendations. We aimed to contact adults away from clinic for 5-50+ years, share current recommendations, offer clinical care, and elicit factors underlying not returning to clinic. Methods: Former patients were identified and offered a virtual meeting with a physician and dietitian for structured interview and education about current guidelines and treatments. Results: We identified 53 eligible patients who had PKU and had not returned to clinic in ≥5 years. Of those 53, 27 were successfully contacted, 16 completed the educational intervention, and 5/16 returned to clinic. Reasons for having been away from clinic included discharge from clinic in childhood and inadequate insurance coverage. Experiences varied and some denied negative impacts after diet discontinuation. Individuals expressed a desire for convenient treatments that aligned with overall health goals. Most participants who completed the educational intervention expressed interest in returning to clinic; however, most did not return within the timeframe of the project. All 27 individuals successfully contacted agreed to be re-contacted with future updates or research opportunities. Discussion: We successfully contacted half of individuals identified as having been lost to clinic follow-up long-term. Limitations included inability to make initial contact, and unwillingness to re-engage by some we reached. Those who agreed to participation desired ongoing PKU clinic and community connection. This experience will inform our process to engage current patients and re-engage those currently lost to care.

3.
Front Vet Sci ; 11: 1348084, 2024.
Article in English | MEDLINE | ID: mdl-38962706

ABSTRACT

A newborn female, Holstein calf weighing approximately 38.5 kg developed severe, persistent colic caused by a large colostrum curd located within the calf's abomasum. Based upon 10% body weight, the calf had been fed 4 liters (L) of first-milking colostrum approximately 30 min after birth and an additional 2 L of first-milking colostrum 6 h after the first feeding. Both the first and second feedings used an esophageal tube feeder to deliver the colostrum. Colic developed shortly after the second colostrum feeding. The affected calf did not respond to on-farm supportive medical therapy and was humanely euthanized by a penetrating captive bolt approximately 22 h after the onset of colic. This on-farm colostrum feeding protocol is routinely observed in the current dairy industry. This case demonstrates calves that are fed large volumes of colostrum during a relatively short window of time may develop a large, firm colostrum curd within the abomasum that causes abdominal distension, colic, and occasional death. There is an urgent need for prospective analytical studies that determine the optimal immunoglobulin mass (g/L) and the ideal volume of colostrum fed to newborn calves for both the first and second colostrum feedings within the most beneficial time frame. Guidelines should be developed that minimize complications that adversely affect calf health and well-being while ensuring the successful transfer of passive immunity.

4.
Front Pediatr ; 12: 1396102, 2024.
Article in English | MEDLINE | ID: mdl-38966491

ABSTRACT

Fetal growth restriction (FGR) impacts 5%-10% of pregnancies and is associated with increased risk of mortality and morbidity. Although adverse neurodevelopmental outcomes are observed in up to 50% of FGR infants, a diagnosis of FGR does not indicate the level of risk for an individual infant and these infants are not routinely followed up to assess neurodevelopmental outcomes. Identifying FGR infants at increased risk of adverse neurodevelopmental outcomes would greatly assist in providing appropriate support and interventions earlier, resulting in improved outcomes. However, current methods to detect brain injury around the time of birth lack the sensitivity required to detect the more subtle alterations associated with FGR. Blood biomarkers have this potential. This systematic review assessed the current literature on blood biomarkers for identifying FGR infants at increased risk of adverse neurodevelopmental outcomes at >12 months after birth. Four databases were searched from inception to 22 February 2024. Articles were assessed for meeting the inclusion criteria by two reviewers. The quality of the included article was assessed using Quality Assessment of Diagnostic Accuracy Studies-2. A summary of findings is presented as insufficient articles were identified for meta-analysis. Excluding duplicates, 1,368 records were screened with only 9 articles considered for full text review. Only one article met all the inclusion criteria. Quality assessment indicated low risk of bias. Both blood biomarkers investigated in this study, neuron specific enolase and S100B, demonstrated inverse relationships with neurodevelopmental assessments at 2 years. Four studies did not meet all the inclusion criteria yet identified promising findings for metabolites and cytokines which are discussed here. These findings support the need for further research and highlight the potential for blood biomarkers to predict adverse outcomes. Systematic Review Registration: https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=369242, Identifier CRD42022369242.

5.
Ceska Gynekol ; 89(3): 173-179, 2024.
Article in English | MEDLINE | ID: mdl-38969510

ABSTRACT

OBJECTIVE: This paper aims to analyze the factors that can influence the method of childbirth in women with multiple pregnancies. MATERIALS AND METHODS: Retrospective analysis of selected parameters in women with multiple pregnancies who gave birth at the 2nd Clinic of Gynecology and Obstetrics of the Faculty of Medicine (FM), Comenius University (CU) and University Hospital (UH) Bratislava in the years 2010-2022. RESULTS: Between 2010 and 2022, at the 2nd Clinic of Gynecology and Obstetrics of the FM CU and UH in Bratislava, 1.13% of births were multiple pregnancies. After statistical data processing, primiparity appeared statistically significant as a risk of acute caesarean section (C-section); multiparous women had a higher probability to give birth vaginally. Since 2017, the clinic has had a decreasing trend in the number of caesarean sections. Women with an acute caesarean section, in turn had on average a lower pH of both fetuses compared to vaginal delivery. However, the incidence of asphyxia in fetuses was not statistically significantly different. We found no risk factor increasing the likelihood of acute caesarean section for fetus B in twins. CONCLUSION: Multiple pregnancy has a higher morbidity not only for the woman but also for the fetuses. The incidence of multiple pregnancies is influenced by assisted reproduction. Delivery method depends on various factors such as chorionicity, fetal presentation, and history of a previous caesarean section.


Subject(s)
Cesarean Section , Delivery, Obstetric , Pregnancy, Multiple , Humans , Female , Pregnancy , Retrospective Studies , Cesarean Section/statistics & numerical data , Delivery, Obstetric/methods , Adult , Risk Factors , Parity
6.
Pediatr Pulmonol ; 2024 Jul 02.
Article in English | MEDLINE | ID: mdl-38953730

ABSTRACT

INTRODUCTION: An inadequate clearance of lung fluid plays a key role in the pathogenesis of transient tachypnea of the newborn (TTN). OBJECTIVES: To evaluate if left ventricular diastolic dysfunction contributes to reduced clearance of lung fluid in TTN. MATERIALS AND METHODS: This was a prospective, observational study. Echocardiography and lung ultrasound were performed at 2, 24 and 48 h of life (HoL) to assess biventricular function and calculate lung ultrasound score (LUS). Left atrial strain reservoir (LASr) provided surrogate measurement of left ventricular diastolic function. RESULTS: Twenty-seven neonates with TTN were compared with 27 controls with no difference in gestation (36.1 ± 2 vs. 36.9 ± 2 weeks) or birthweight (2508 ± 667 vs. 2718 ± 590 g). Biventricular systolic function was normal in both groups. LASr was significantly lower in cases at 2 (21.0 ± 2.7 vs. 38.1 ± 4.4; p < 0.01), 24 (25.2 ± 4.5 vs. 40.6 ± 4.0; p < 0.01) and 48 HoL (36.5 ± 5.8 and 41.6 ± 5.2; p < 0.01), resulting in a significant group by time interaction (p < 0.001), after adjusting for LUS and gestational diabetes. A logistic regression model including LUS, birth weight and gestational diabetes as covariates, showed that LASr at 2 HoL was a predictor of respiratory support at 24 HoL, with an adjusted odds ratio of 0.60 (CI 0.36-0.99). CONCLUSIONS: LASr was reduced in neonates with TTN, suggesting diastolic dysfunction, that may contribute to the delay in lung fluid clearance.

7.
Acta Paediatr ; 2024 Jul 02.
Article in English | MEDLINE | ID: mdl-38953873

ABSTRACT

AIM: To investigate the clinical feasibility of ultra-high-frequency abdominal ultrasound (UHFUS) scans of preterm and term infants. METHODS: Prospectively, 19 healthy term newborn infants were examined with conventional ultrasound (CUS) (Toshiba, Aplio i700, linear probe 14L5) and UHFUS (Visualsonics VevoMD, linear probes UHF48 and UHF70) according to a standardised protocol. Measurements of wall thickness were performed for; stomach, small intestine, colon and peritoneum. Five preterm infants, with or without suspected necrotising enterocolitis (NEC), were also examined with UHF48. Of these, only one was later diagnosed with NEC. RESULTS: Differences between CUS and UHFUS (UHF48) were found in measurements of thickness; for peritoneum 0.25 versus 0.13 mm (p < 0.001), small intestine 0.76 versus 0.64 mm (p = 0.039) and colon 0.7 versus 0.47 mm (p < 0.001) in healthy term infants. Gaining frequency from 46 to 71 MHz showed a mean reduction in measurements of peritoneum from 0.13 to 0.09 mm (p < 0.001). One preterm infant with NEC showed a fivefold and twofold increase in peritoneal and gastrointestinal wall thickness respectively, compared to healthy preterm infants. CONCLUSION: UHFUS was a clinically feasible, promising method with potential to improve gastrointestinal diagnostics in infants. Lower peritoneum thickness and gastrointestinal wall thickness were demonstrated with UHFUS compared to CUS, suggesting an overestimation by CUS.

8.
Front Pharmacol ; 15: 1391024, 2024.
Article in English | MEDLINE | ID: mdl-38957388

ABSTRACT

Severe neonatal hyponatremia represents a critical electrolyte imbalance with potentially severe neurological outcomes, a condition rarely documented in community-acquired, full-term newborns. This report underscores a unique case of a 23-day-old, previously healthy, full-term male neonate experiencing severe hyponatremia that precipitated seizures, underscoring the urgency of prompt recognition and intervention. The neonate presented with symptoms including vomiting, groaning, chills, fixed staring, and limb tremors. Critical findings upon admission encompassed hypothermia, hypotension, tachycardia, and tachypnea accompanied by significant weight loss. The clinical presentation was marked by dehydration, lethargy, weak crying, a fixed gaze, irregular breathing, and coarse lung sounds, yet a distended abdomen, hypertonic limb movements, and recurrent seizures were observed. Immediate interventions included establishing IV access, rewarming, mechanical ventilation, seizure management, volume expansion, dopamine for circulatory support, and initiation of empirical antibiotics. Diagnostic evaluations revealed a sodium ion concentration of 105.9 mmol/L, while amplitude-integrated electroencephalography (aEEG) detected pronounced seizure activity characterized by a lack of sleep-wake rhythmicity, noticeable elevation in both the lower and upper amplitude margins, and a sustained decrease in the lower margin voltage dropping below 5 µV, presenting as sharp or serrated waveforms. The management strategy entailed rapid electrolyte normalization using hypertonic saline and sodium bicarbonate, anticonvulsant therapy, and comprehensive supportive care, with continuous aEEG monitoring until the cessation of seizures. Remarkably, by the third day, the neonate's condition had stabilized, allowing for discharge in good health 10 days post-admission. At a 16-month follow-up, the child exhibited no adverse neurological outcomes and demonstrated favorable growth and development. Our extensive review on the etiology, clinical manifestations, aEEG monitoring, characteristics of seizures induced by severe neonatal hyponatremia, treatment approaches, and the prognosis for seizures triggered by severe hyponatremia aims to deepen the understanding and enhance clinical management of this complex condition. It stresses the importance of early detection, accurate diagnosis, and customized treatment protocols to improve outcomes for affected neonates. Additionally, this review accentuates the indispensable role of aEEG monitoring in managing neonates at elevated risk for seizures. Yet, the safety and efficacy of swiftly administering hypertonic saline for correcting severe hyponatremia-induced seizures necessitate further investigation through medical research.

9.
Sci Rep ; 14(1): 15448, 2024 07 04.
Article in English | MEDLINE | ID: mdl-38965288

ABSTRACT

Infusion extravasation has an increased incidence in newborns, which can result in various adverse outcomes. This study aimed to investigate the effects of different types of temperament on infusion extravasation in newborns. A total of 209 newborns aged 4-7 days who were treated with infusion therapy were assessed for temperament type using the neonatal behavioral assessment scale score (NBAS). The 2009 Infusion Nurses Society clinical grading criteria for extravasation were used, and the clinical data of the newborns, such as gestational age and body weight, were collected. Out of 209 newborns assessed, 107 developed infusion extravasations, with an incidence rate of 51.2%. Newborns with intermediate temperament type were more prone to develop infusion extravasation. Newborns with low body weight, amniotic fluid aspiration syndrome, or meconium aspiration syndrome were prone to develop infusion extravasation. Body weight, temperament type of consolability, temperament type of peak of excitement, diseases, general temperament type, and NBAS total scores of the neonates were independent risk factors for infusion extravasation. Thus, different types of temperament can have an impact on neonatal extravasation.


Subject(s)
Extravasation of Diagnostic and Therapeutic Materials , Temperament , Humans , Infant, Newborn , Female , Male , Risk Factors , Incidence , Infusions, Intravenous
10.
BMC Pediatr ; 24(1): 424, 2024 Jul 02.
Article in English | MEDLINE | ID: mdl-38956494

ABSTRACT

OBJECTIVES: Although recent discoveries regarding the biomarkers of newborn screening (NBS) programs by tandem mass spectrometry (MS/MS) highlight the critical need to establish reference intervals (RIs) specifically for preterm infants, no such RIs has been formally published yet. This study addressed the gap by offering a comprehensive set of reference intervals (RIs) for preterm neonates, and illustrating the dynamic changes of each biomarker with age. DESIGN AND METHODS: The NBS data of 199,693 preterm newborns (< 37 weeks of gestation) who met the inclusion and exclusion criteria from the NNSCP database were included in study analysis. The birth weight stratified dynamic trend of each biomarker were captured by their concentrations over age. Reference partitions were determined by the method of Harris and Boyd. RIs, corresponding to the 2.5th and 97.5th percentiles, as well as the 0.5th, 25th, 50th, 75th and 99.5th percentiles were calculated using a non-parametric rank approach. RESULTS: Increasing birth weight is associated with an elevation in the levels of arginine, citrulline, glycine, leucine and isobarics, methionine, ornithine, phenylalanine, and valine, whereas the levels of alanine, proline and tyrosine decrease. Additionally, two short-chain acylcarnitines (butyrylcarnitine + isobutyrylcarnitine and isovalerylcarnitine + methylbutyrylcarnitine) and a median-chain acylcarnitine (octenoylcarnitine) decrease, while four long-chain acylcarnitines (tetradecanoylcarnitine, palmitoylcarnitine, palmitoleylcarnitine and oleoylcarnitine) increase with increasing birth weight. Age impacts the levels of all MS/MS NBS biomarkers, while sex only affects the level of malonylcarnitine + 3-hydroxybutyrylcarnitine (C3-DC + C4-OH) in very low birth weight preterm neonates. CONCLUSION: The current study developed reference intervals (RIs) specific to birth weight, age, and/or sex for 35 MS/MS biomarkers, which can help in the timely evaluation of the health and disease of preterm neonates.


Subject(s)
Biomarkers , Dried Blood Spot Testing , Infant, Premature , Neonatal Screening , Tandem Mass Spectrometry , Humans , Infant, Newborn , Neonatal Screening/methods , Reference Values , Male , Female , Biomarkers/blood , Infant, Premature/blood , Retrospective Studies , Dried Blood Spot Testing/methods , China , Carnitine/blood , Carnitine/analogs & derivatives , Birth Weight , East Asian People
11.
Glob Health Action ; 17(1): 2329369, 2024 Dec 31.
Article in English | MEDLINE | ID: mdl-38967540

ABSTRACT

BACKGROUND: The Global Financing Facility (GFF) was launched in 2015 to catalyse increased domestic and external financing for reproductive, maternal, newborn, child, adolescent health, and nutrition. Half of the deaths along this continuum are neonatal deaths, stillbirths or maternal deaths; yet these topics receive the least aid financing across the continuum. OBJECTIVES: To conduct a policy content analysis of maternal and newborn health (MNH), including stillbirths, in GFF country planning documents, and assess the mortality burden related to the investment. METHODS: Content analysis was conducted on 24 GFF policy documents, investment cases and project appraisal documents (PADs), from 11 African countries. We used a systematic data extraction approach and applied a framework for analysis considering mindset, measures, and money for MNH interventions and mentions of mortality outcomes. We compared PAD investments to MNH-related deaths by country. RESULTS: For these 11 countries, USD$1,894 million of new funds were allocated through the PADs, including USD$303 million (16%) from GFF. All documents had strong content on MNH, with particular focus on pregnancy and childbirth interventions. The investment cases commonly included comprehensive results frameworks, and PADs generally had less technical content and fewer indicators. Mortality outcomes were mentioned, especially for maternal. Stillbirths were rarely included as targets. Countries had differing approaches to funding descriptions. PAD allocations are commensurate with the burden. CONCLUSIONS: The GFF country plans present a promising start in addressing MNH. Emphasising links between investments and burden, explicitly including stillbirth, and highlighting high-impact packages, as appropriate, could potentially increase impact.


Main finding: Maternal and newborn health care packages are strongly included in the Global Financing Facility policy documents for 11 African countries, especially regarding pregnancy and childbirth, though less for stillbirth, or postnatal care, or small and sick newborn care.Added knowledge: This study is the first independent content analysis of Global Financing Facility investment cases and related project appraisal documents, revealing mostly consistent content for maternal and newborn health across documents and overall correlation between national mortality burden and investments committed.Global health impact for policy and action: The Global Financing Facility have demonstrated promising initial investments for maternal and newborn health, although there are also missed opportunities for strengthening, especially for some neonatal high-impact packages and counting impact on stillbirths.


Subject(s)
Infant Health , Stillbirth , Vulnerable Populations , Humans , Stillbirth/epidemiology , Infant, Newborn , Female , Africa/epidemiology , Pregnancy , Infant Health/economics , Infant , Global Health , Maternal Health/economics , Infant Mortality , Maternal Mortality , Investments
12.
Trials ; 25(1): 459, 2024 Jul 06.
Article in English | MEDLINE | ID: mdl-38971756

ABSTRACT

BACKGROUND: Particulate contamination due to infusion therapy (administration of parenteral nutrition and medications) carries a potential health risk for infants in neonatal intensive care units (NICUs). This particulate consists of metals, drug crystals, glass fragments, or cotton fibers and can be generated by drug packaging, incomplete reconstitution, and chemical incompatibilities. In-line filters have been shown to remove micro-organisms, endotoxin, air, and particles in critically ill adults and older infants, but its benefits in newborn remain to be demonstrated. Moreover, 50% of inflammatory episodes in the setting of NICUs are blood culture-negative. These episodes could be partly related to the presence of particles in the infusion lines. METHODS: A multicenter randomized single-blind controlled trial was designed. All infants admitted to NICUs for which prolonged infusion therapy is expected will be enrolled in the study and randomized to the Filter or Control arm. All patients will be monitored until discharge, and data will be analyzed according to a "full analysis set." The primary outcome is the frequency of patients with at least one sepsis-like event, defined by any association of suspected sepsis symptoms with a level of c-reactive protein (CRP) > 5 mg/L in a negative-culture contest. The frequency of sepsis, phlebitis, luminal obstruction, and the duration of mechanical ventilation and of catheter days will be evaluated as secondary outcomes. The sample size was calculated at 368 patients per arm. DISCUSSION: This is the first multicenter randomized control trial that compares in-line filtration of parenteral nutrition and other intravenous drugs to infusion without filters. Sepsis-like events are commonly diagnosed in clinical practice and are more frequent than sepsis in a positive culture contest. The risk of these episodes in the target population is estimated at 30-35%, but this data is not confirmed in the literature. If the use of in-line filters results in a significant decrease in sepsis-like events and/or in any other complications, the use of in-line filters in all intravenous administration systems may be recommended in NICUs. TRIAL REGISTRATION: ClinicalTrials.gov, NCT05537389, registered on 12 September 2022 ( https://classic. CLINICALTRIALS: gov/ct2/show/results/NCT05537389?view=results ).


Subject(s)
Filtration , Intensive Care Units, Neonatal , Multicenter Studies as Topic , Randomized Controlled Trials as Topic , Humans , Infant, Newborn , Filtration/instrumentation , Single-Blind Method , Infusions, Intravenous , Sepsis , Catheterization, Central Venous/adverse effects , Catheterization, Central Venous/instrumentation , Parenteral Nutrition/adverse effects , Parenteral Nutrition/methods , Treatment Outcome , C-Reactive Protein/analysis
13.
Cureus ; 16(6): e61948, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38978942

ABSTRACT

The Kidd blood group is clinically significant as Kidd antibodies have the potential to trigger both acute and delayed transfusion reactions, along with hemolytic disease of the fetus and newborn (HDFN). Here, we have reported a case of HDFN due to Jk-b antibodies. A 31-year-old pregnant female was found to have Jk-b antibodies on screening with the Bio­Rad ID Dia 11-cell panel (Bio-Rad Laboratories, Inc., CA) after her cross-matching results were incompatible. Emergency lower segment caesarian section was done; the baby was non-hydropic at birth with an increase in bilirubin that required high-intensity phototherapy. HDFN resulting from anti-Jk-b incompatibility is rare and tends to present with mild clinical symptoms and a favorable prognosis. However, monitoring of antibody titers is essential to prevent potentially fatal complications. Additionally, antenatal antibody screening should be mandatory for all pregnant women, regardless of their Rh-(D) antigen status, to detect red cell alloimmunization to other clinically significant blood group antigens.

14.
J Med Ethics ; 2024 Jul 11.
Article in English | MEDLINE | ID: mdl-38991763

ABSTRACT

Singh asserts that the parent-child relationship engenders a moral responsibility for the newborn. Simultaneously, he contends, drawing on the argument from potentiality, that the fetal stage of human development does not establish the parent-child relationship. Consequently, within Singh's proposed relational framework, moral responsibility for the developing fetus does not manifest. Thus, Singh advocates for abortion, citing the absence of moral responsibilities arising for the pregnant woman for the fetus. In this article, I critique Singh's argument from potentiality, identifying flaws and highlight the incoherence of the argument pertaining to the parent-child relationship.

15.
J Inherit Metab Dis ; 2024 Jul 11.
Article in English | MEDLINE | ID: mdl-38992987

ABSTRACT

Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder (LSD) caused by reduced activity of the acid sphingomyelinase (ASM) enzyme, which leads to progressive storage of sphingomyelin and related lipids in the body. ASMD is caused by biallelic variants in the SMPD1 gene, which encodes for the ASM enzyme. Current estimates of disease incidence range from 0.4 to 0.6 in 100 000 livebirths, although this is likely an underestimation of the true frequency of the disorder. While there is no cure for ASMD, comprehensive care guidelines and enzyme replacement therapy are available, making an early diagnosis crucial. Newborn screening (NBS) for ASMD is possible through measurement of ASM activity in dried blood spots and offers the opportunity for early diagnosis. In 2015, Illinois (IL) became the first to initiate statewide implementation of NBS for ASMD. This study describes the outcomes of screen-positive patients referred to Ann & Robert H. Lurie Children's Hospital (Lurie). Ten infants were referred for diagnostic evaluation at Lurie, and all 10 infants were classified as confirmed ASMD or at risk for ASMD through a combination of molecular and biochemical testing. Disease incidence was calculated using data from this statewide implementation program and was ~0.79 in 100 000 livebirths. This study demonstrates successful implementation of NBS for ASMD in IL, with high screen specificity and a notable absence of false positive screens.

16.
Glob Health Action ; 17(1): 2336310, 2024 Dec 31.
Article in English | MEDLINE | ID: mdl-38979635

ABSTRACT

BACKGROUND: In 2015, Uganda joined the Global Financing Facility (GFF), a Global Health Initiative for Reproductive, Maternal, Newborn, Child, and Adolescent Health (RMNCAH). Similar initiatives have been found to be powerful entities influencing national policy and priorities in Uganda, but few independent studies have assessed the GFF. OBJECTIVE: To understand the policy process and contextual factors in Uganda that influenced the content of the GFF policy documents (Investment Case and Project Appraisal). METHODS: We conducted a qualitative policy analysis. The data collection included a document review of national RMNCAH policy documents and key informant interviews with national stakeholders involved in the development process of GFF policy documents (N = 16). Data were analyzed thematically using the health policy triangle. RESULTS: The process of developing the GFF documents unfolded rapidly with a strong country-led approach by the government. Work commenced in late 2015; the Investment Case was published in April 2016 and the Project Appraisal Document was completed and presented two months later. The process was steered by technocrats from government agencies, donor agencies, academics and selected civil society organisations, along with the involvement of political figures. The Ministry of Health was at the center of coordinating the process and navigating the contestations between technical priorities and political motivations. Although civil society organisations took part in the process, there were concerns that some were excluded. CONCLUSION: The learnings from this study provide insights into the translation of globally conceived health initiatives at country level, highlighting enablers and challenges. The study shows the challenges of trying to have a 'country-led' initiative, as such initiatives can still be heavily influenced by 'elites'. Given the diversity of actors with varying interests, achieving representation of key actors, particularly those from underserved groups, can be difficult and may necessitate investing further time and resources in their engagement.


Main findings: Existing policy priorities and platforms helped to shape the Global Financing Facility agenda in Uganda, with leadership from the Ministry of Health and subtle yet clear influences from global actors and national civil society.Added knowledge: The study contributes to the understanding of the complexities in translating a globally conceived initiative into one that is locally owned.Global health impact for policy and action: Global health initiatives must work with government to enable local ownership thorough more engagement with diverse national stakeholders in order to understand their expectations from inception and address them as part of processes of strengthening robust policy review and implementation.


Subject(s)
Global Health , Health Policy , Policy Making , Uganda , Humans , Child , Adolescent , Qualitative Research , Infant, Newborn
17.
Transl Pediatr ; 13(6): 908-920, 2024 Jun 30.
Article in English | MEDLINE | ID: mdl-38984031

ABSTRACT

Background: Troponin (Tn) is of an important biomarker for the diagnosis and prognosis of myocardial injury and for evaluating the severity of cardiac involvement due to other systemic diseases in children. Unfortunately, high-sensitivity cardiac troponin I (hs-cTnI) specific reference intervals (RIs) are extremely limited. This study aimed to establish a preliminary pediatric hs-cTnI RI for newborns, children, and adolescents in Wuhan, China. Methods: A total of 1,355 healthy participants (1 day to 19 years) were recruited from a cross-sectional study implemented in Wuhan Children's Hospital from September 2022 to August 2023. Serum hs-cTnI levels were detected via the Mindray automated chemiluminescence immunoassay analyzer (CL-6000i). Specific serum hs-cTnI RIs were established according to the Clinical and Laboratory Standards Institute (CLSI) guidelines. The RIs were defined by the nonparametric median (P50), and 2.5th, 97.5th [P50 (P2.5-P97.5)] intervals. Results: Of the 1,355 pediatric participants, serum hs-cTnI concentrations of 1,332 children were measured. The serum overall P50 and 95% interval range (P2.5-P97.5) of serum hs-cTnI was 0.41 (0.00, 44.31) ng/L. This was higher in males of 0.47 (0.00, 44.90) ng/L than in females of 0.36 (0.00, 44.17) ng/L (P<0.01). Age- and sex-specific differences in hs-cTnI levels were observed. The levels were highly variable in children under 1 year of age (especially in newborns), deriving a P50 (P2.5-P97.5) of 22.06 (1.04, 154.22) ng/L, and gradually narrowed and decreased with increasing age, with a markedly lower established P50 (P2.5-P97.5) of 0.36 (0.00, 2.16) ng/L. However, the levels began to increase slightly at the age of 9-12 years and reached a small peak at the age range of 15 to 18 years in males with 0.71 (0.03, 3.29) ng/L, while females were less affected by puberty. Sex- and age-specific RIs for hs-cTnI were established: 5 age-specific RIs in males, 1 day-1 month: 30.16 (8.67, 171.81) ng/L; >1-12 months: 13.20 (0.63, 61.91) ng/L; >1-15 years: 0.36 (0.00, 1.86) ng/L; >15-18 years: 0.71 (0.03, 3.29) ng/L; >18-19 years: 0.52 (0.00, 1.92) ng/L; and 4 age-specific RIs in females, 1 day-1 month: 43.93 (18.82, 146.38) ng/L; >1-12 months: 5.22 (0.92, 42.54) ng/L; >1-6 years: 0.54 (0.00, 2.74) ng/L; >6-19 years: 0.23 (0.00, 1.56) ng/L. Conclusions: This study preliminarily established age- and sex-specific serum hs-cTnI RIs using the Mindray CL-6000i system in healthy children in Wuhan, China.

18.
Midwifery ; 136: 104098, 2024 Jul 05.
Article in English | MEDLINE | ID: mdl-38986390

ABSTRACT

BACKGROUND: The postpartum period is critical and challenging for women, implying emotional, physical, social and spiritual changes. For a positive postpartum experience, it is important to receive consistent information and support from health professionals. However, this is not always the case, as care is more focused on the newborn, forgetting the needs of the puerperal woman. AIM: The review aimed to map the published scientific knowledge about women's needs in the postpartum period. METHODS: A Scoping Review was carried out, according to the method proposed by The Joanna Briggs Institute, in the MEDLINE Complete, MedicLatina and CINAHL Complete databases, and were selected articles since 2017 that answered the research question "What is the available evidence on women's needs in the postpartum period?". For the selection of articles, the eligibility criteria were defined. RESULTS: A total of 6,647 articles were identified. After the exclusion of duplicate articles and the application of the eligibility criteria, at the end of the process, 27 articles were included in the review. The extracted data were grouped into four categories, which summarize the needs of women in the postpartum period: support, sharing, care and preparation for the postpartum period. CONCLUSION: In the articles analysed, women reveal that they do not feel prepared for the postpartum period and identify several unmet needs, so health education and parenting skills training during pregnancy are essential to improve the postpartum experience and the transition to parenthood.

19.
J Pediatr ; : 114186, 2024 Jul 08.
Article in English | MEDLINE | ID: mdl-38986928
20.
J Pak Med Assoc ; 74(6): 1136-1143, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38948986

ABSTRACT

Organic acid disorders are rare inherited metabolic disorders of key metabolic pathways. For the identification of specific organic acids, investigation of urinary metabolites and genetic testing are required through newborn screening programmes. Delayed diagnosis leads to complications, such as cardiac attacks, respiratory problems, neuro-developmental disorders, intellectual disability, and even premature death. The burden of such inherited disorders is quite high in developing countries of South Asia due to high rate of consanguinity in the region. Unfortunately, such disorders are left untreated due to the lack of screening facilities in such countries. The current narrative review was planned to highlight the urgent need for closing this gap and implementing effective newborn screening programmes for organic acid disorders in developing countries. The implementation of effective programmes is crucial for reducing morbidity and mortality, and for improving the quality of life for the affected children and of their families, thus promoting global health equity.


Subject(s)
Developing Countries , Neonatal Screening , Humans , Neonatal Screening/methods , Infant, Newborn , Metabolism, Inborn Errors/diagnosis , Metabolism, Inborn Errors/epidemiology , Amino Acid Metabolism, Inborn Errors/diagnosis
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