Screening Of Infants Research Articles

Serendipitous Discovery of Lipemia Retinalis in a Premature Infant: A Case Report

Introduction Lipemia retinalis (LR) is a rare ocular condition characterized by a creamy white appearance of the retinal vessels, which is indicative of significantly elevated serum triglyceride (TG) levels. This condition is particularly noteworthy in pediatric populations, especially in preterm infants who are at risk for various metabolic disorders. Case Presentation We report a case of LR in a 44-day-old preterm infant identified during routine retinopathy of prematurity (ROP) screening. Unusual retinal findings led to metabolic investigations, revealing elevated TG levels confirming LR. The infant was managed with a dietary regimen including skimmed milk, resulting in a substantial decrease in TG levels and complete resolution of the retinal changes. Conclusion Fundus examination serves as a portal to the systemic health of an individual, enabling rare identification of LR, indicative of underlying dyslipidemia. This case underscores the necessity for comprehensive metabolic screening in preterm infants, particularly during ROP assessments. Furthermore, it emphasizes the effectiveness of dietary interventions in managing LR. The favorable outcomes stress the significance of early detection of LR in pediatric patients and implementing nutritional strategies to enhance metabolic well-being, thereby averting severe hypertriglyceridemia complications.

Neurological assessment tool for screening infants during the first year after birth: The Brief-Hammersmith Infant Neurological Examination.

https://onlinelibrary.wiley.com/doi/10.1111/dmcn.15871

Community-based infant hearing screening: Outcomes of a rural pilot programme.

Community-based universal newborn hearing screening (UNHS) has not been fully realised in South Africa despite the availability of contextually relevant early hearing detection and intervention guidelines. Research has confirmed the feasibility of implementing UNHS programmes in urban contexts; however, limited information exists for rural contexts. The aim of the study was to describe the outcomes in terms of coverage rate, referral rate and follow-up rate of a 1-year UNHS pilot programme implemented at three primary health care (PHC) clinics in the Limpopo province. A descriptive retrospective review of 2 302 audiological records of infants who underwent NHS between July 2014 to June 2015 was conducted. The mean age at first-stage screen was 112 days (16 weeks). The coverage rate was 87% for the infants screened at 3- and 10- days clinic visits and 27% for infants screened at the 6-week immunisation visit. The first-stage referral rate was 33.9% and 8.3% for the overall second stage referral for diagnostic audiology services. The follow-up rate for rescreens at the clinical level was 77%, while for initial diagnostic assessments, it was 26%. Although not all benchmarks were met within the first year of implementation, the high coverage- and low referral rates, especially in the last 6 months, are the first steps in improving the outcomes of the screening programme.Contribution:The findings confirm the feasibility of implementing community-based UNHS programmes in rural areas in South Africa. Regular monitoring and evaluation contribute to the success of screening programmes.

A Groundbreaking Prevalence Survey Conducted in Mauritania for Enhanced Sickle Cell Control

Abstract Issue/Problem Sickle cell disease is a major concern in sub-Saharan Africa, with a prevalence of 0.5 to 2% among children and a mortality rate exceeding 50% in untreated cases. However, the lack of reliable data hampers effective public health policies and resource allocation. To address this, Mauritania’s Ministry of Health, with technical support from NGO Santé Sud, conducted its first prevalence survey in 2023-24. The findings will support advocacy for a national strategy on the disease and offer valuable insights for neighboring countries with similar challenges. Description of the problem The prevalence survey comprised 3 field missions over 7 weeks, conducted across 24 primary healthcare facilities during immunization days, in Nouakchott, Dakhlet-Nouadibou, Trarza, Ghorgol, Brakna, Guidimakha and Assaba regions: 1,642 infants (0-9 months) underwent screening for sickle cell disease, with parents’ consent, and 30 paramedics and laboratory technicians were trained to administer point-of-care tests. Results The survey found that 9.7% of tested children were carriers of hemoglobinopathies, with 0.6% diagnosed with sickle cell disease. Lab technicians and nurses have improved knowledge about the disease and are better equipped for point-of-care testing. This initiative is expected to enhance sickle cell disease control by providing crucial data for advocacy and may lead to a nationwide newborn screening program, in line with WHO recommendations. Lessons This initiative highlighted the efficiency of screening infants for sickle cell disease, emphasizing the need for effective organization involving stakeholders from central to local levels. Screening during immunization days proved highly efficient in testing numerous children. Success depends on adequate human resources, technical skills, and dedicated health personnel. Additionally, having a team member to inform and counsel families, especially when test results are positive, proved crucial. Key messages • A prevalence survey on sickle cell disease to generate robust data for advocacy efforts in Mauritania. • Conducting a prevalence survey on sickle cell disease in Mauritania for a better control of the disease.

Semi-Automated Analysis of Dome-Shaped Macula in Preterm and Full-Term Infants Using Handheld Swept-Source Optical Coherence Tomography.

Dome-shaped macula (DSM) is known to occur in highly myopic adults and, recently, preterm infants. This study uses investigational handheld swept-source optical coherence tomography (SS-OCT) to further characterize infantile DSM. In this prospective, observational study, preterm infants undergoing retinopathy of prematurity screening and full-term infants within 72 hours of birth were imaged. Two trained graders assessed macular features, including DSM, subretinal fluid, and macular edema. A semi-automated program measured foveal immaturity, dome height, and diameter. Two hundred seventeen imaging sessions from 50 full-term and 30 preterm infants were included (46% female, preterm birth weight 1038 ± 335 g, and gestational age 28.7 ± 3.1 weeks). DSM occurred in 40% preterm versus 14% full-term infants (P = 0.01). Mean postmenstrual age at first DSM diagnosis was 38.4 ± 0.0 weeks among preterm and 40.4 ± 1.1 weeks among full-term infants (P < 0.001). Dome height and diameter measured 55.67 ± 44.22 µm and 3583.15 ± 1090.35 µm for preterm versus 88.37 ± 44.73 µm and 3581.97 ± 355.07 µm for full-term infants (P = 0.24 and P = 0.96, respectively). All 27 images (11 preterm and 7 full-term infants) with 3-dimensional analysis had round dome configuration. No other associations were seen, including macular fluid (P = 0.17). Infants frequently exhibit DSM without an association with macular fluid. Preterm infants were more likely than full-term infants to have DSM. Unlike DSM in children and adults, infantile DSM configuration is mostly round rather than ridge-shaped.

Design and Pilot Implementation of an ECHO Module to Facilitate Treatment of Hepatitis C Virus Infection During Pregnancy

Abstract Background Pregnant patients are largely excluded from Hepatitis C virus (HCV) research and treatment. Studies show that pregnant patients want to discuss treatment while providers feel they lack the knowledge and training for these discussions. To bridge this gap, we designed an ECHO module about management of HCV in pregnancy and infancy. Methods Content experts from pediatric infectious diseases, hepatology, maternal-fetal medicine, bioethics and members of ECHO-Chicago discussed: prior data, potential topics, target audience and scheduling of sessions. We held 8 one-hour sessions with 20-30 minutes of didactics and 30-40 minutes of solicited case discussion. Participants included those who participated in prior ECHO training and prenatal providers in local and regional practices. A 7-point Likert scale pre- and post-training survey was administered to assess metrics of self-efficacy for management of HCV in pregnancy and childhood. Results The sessions were conducted from May to June 2023 on the following topics: HCV screening; HCV pathophysiology/clinical presentations; staging fibrosis in HCV; HCV Treatment in non-pregnant patients; harm reduction; clinical considerations of HCV in pregnancy; shared decision-making for HCV treatment in pregnancy; and HCV screening in infants &amp; treatment for children. Fourteen participants completed pre- and post-surveys. In the pre-survey, participants had low ratings of self-efficacy (average 3.0). In the post-survey (Table 1), participants reported dramatic increases in all areas (average 5.2, increase of 2.2) with the largest in the following areas: “Ability to discuss and manage timing of hepatitis C treatment in a pregnant person”, average 5.1, increase of 3; “Ability to identify suitable pregnant candidates for treatment for Hepatitis C”, average 5.2, increase of 2.7. For context, a 1-point increase in self-efficacy is considered meaningful. All respondents reported increased ability to address HCV in a preconception, pregnant, postpartum, or neonatal population. Conclusion As pivotal studies of pan-genotypic antivirals indicate efficacy and safety during pregnancy, this ECHO module could be distributed to support providers who are discussing therapy initiation. Table 1: Average Change in Self-Efficacy between Pre- &amp; Post-Series Surveys

Longitudinal echocardiographic parameters for evaluation of pulmonary hypertension in preterm infants with very low birth weight.

Echocardiography is essential for the evaluation of pulmonary hypertension. We determined the feasible quantitative parameter for screening and monitoring pulmonary hypertension in preterm infants. This secondary analysis of a prospective cohort single-centre study was conducted between August 2019 and September 2020. Serial echocardiography was performed 7 and 28 days after birth and at 36 weeks postmenstrual age. The data of infants who developed pulmonary hypertension at 36 weeks postmenstrual age were compared with those without pulmonary hypertension. We also modelled the parameters' trend and performed an interaction test using multi-level Gaussian regression. Out of 30 infants enrolled in the study, 79 echocardiograms were analysed. Left ventricular eccentric index was obtainable in all infants, while tricuspid jet velocity was measurable in 44.1%. Left ventricular eccentric index correlated well with tricuspid regurgitation jet velocity (r = 0.77, P < 0.001). Six infants were diagnosed with newly developed or persistent pulmonary hypertension at 36 weeks postmenstrual age. Serial left ventricular eccentric index showed a significantly different increasing trend in the pulmonary hypertension group (change per day: +0.004; P = 0.090) from the decreasing trend among a non-pulmonary hypertension group (change per day: -0.001; P = 0.041) (P for interaction = 0.007). Right ventricular systolic function and right ventricular isovolumic systolic velocity revealed a reducing trend in the pulmonary hypertension group, which was different from the improving trend in non-pulmonary hypertension infants. Infants with low current weight, low postmenstrual age, and requiring high-flow oxygen therapy at day 28 of life trended to increase the risk of late pulmonary hypertension. Left ventricular eccentric index and right ventricular isovolumic systolic velocity were feasible for assessing pulmonary hypertension and should be incorporated into pulmonary hypertension evaluation. Serial left ventricular eccentric index and right ventricular isovolumic systolic velocity may help predict late pulmonary hypertension and early detection of right ventricular dysfunction.

Associations between shared book reading, daily screen time and infants’ vocabulary size

Abstract In the current pre-registered study, we examined the associations between shared book reading, daily screen time, and vocabulary size in 1,442 12- and 24-month-old Norwegian infants. Our results demonstrate a positive association between shared reading and vocabulary in both age groups, and a negative association between screen time and vocabulary in 24-month-olds. Exploratory analyses revealed that the positive relationship between shared reading and expressive vocabulary in 12-month-olds was stronger in lower SES groups, suggesting that shared reading may act as a compensatory mechanism attenuating potentially impoverished learning environment and parent-infant interactions in low-SES families.

Update on Whole-Body MRI Surveillance for Pediatric Cancer Predisposition Syndromes.

Whole-body MRI (WBMRI) is an integral part of screening infants, children, and adolescents for presymptomatic neoplasms in certain cancer predisposition syndromes, which include Li-Fraumeni and constitutional mismatch repair deficiency syndromes, among others. The list of syndromes in which WBMRI adds value, as part of a comprehensive surveillance protocol, continues to evolve in response to new evidence, growing experience, and more widespread adoption. In July 2023, the AACR reconvened an international, multidisciplinary panel to revise and update recommendations stemming from the 2016 AACR Special Workshop on Childhood Cancer Predisposition. That initial meeting resulted in a series of publications in Clinical Cancer Research in 2017, including "Pediatric Cancer Predisposition Imaging: Focus on Whole-Body MRI." This 2024 review of WBMRI in cancer predisposition syndrome updates the 2017 WBMRI publication, the revised recommendations derived from the 2023 AACR Childhood Cancer Predisposition Workshop based on available data, societal guidelines, and expert opinion. Different aspects of acquiring and interpreting WBMRI, including diagnostic accuracy, are discussed. The application of WBMRI in resource-poor environments, as well as integration of whole-body imaging techniques with emerging technologies, such as cell-free DNA ("liquid biopsies") and artificial intelligence/machine learning, is also considered.

Utility of Diffusion Tensor Imaging in Preterm Infants with Germinal Matrix Hemorrhage and Intraventricular Hemorrhage: A Systematic Review

IntroductionIntraventricular hemorrhage (IVH) and germinal matrix hemorrhage (GMH) are the most common brain injuries in preterm infants. Neonates with these injuries are at greater risk of impaired neurodevelopmental outcome. Current guidelines recommend screening infants with cranial ultrasound (CUS), although this is prone to missing subtle injury patterns, particularly within the posterior fossa. The present report sought to discuss the utility of diffusion tensor imaging (DTI) in preterm infants. MethodsA systematic review of PubMed, Ovid MEDLINE, and Ovid EMBASE was conducted following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Included manuscripts were methodically scrutinized for quality; DTI use; neurologic outcome. ResultsTwenty studies with 1574 infants who underwent DTI were included. There were 574 preterm infants with GMH-IVH on DTI. Twelve studies documented decreased fractional anisotropy (FA) while six demonstrated structural segregation and asymmetrical white matter myelination in these infants. Seven studies documented concurrent CUS use with two studies comparing DTI findings to CUS findings. In both studies, DTI more accurately detected presence of GMH, especially within the cerebellum. Among GMH-IVH preterm infants, 58.5% demonstrated cognitive, intellectual, and language delays at follow-up (mean: 32.4 months). Additionally, lower FA values on initial DTI were associated with cognitive, language, and motor delays. ConclusionAlthough DTI is more sensitive for picking up subtle injury patterns, CUS remains the standard of care when screening for injuries that would necessitate surgical intervention. DTI offers a refined understanding of the sequelae of GMH-IVH with microstructural changes found on DTI being associated with childhood motor and cognitive outcomes.

Postoperative respiratory difficulties following primary cleft palate repair in infants with Robin sequence versus isolated cleft palate: A retrospective study

The study aimed to: (1) compare the occurrence of postoperative respiratory difficulties (PRD) following primary cleft palate repair (CPR) in infants with an isolated cleft palate (iCP) and infants with Robin sequence (RS), and (2) describe the possible benefit of preoperative analysis with palatal plate in infants with RS.All consecutive infants with an iCP and infants with RS who underwent CPR between January 2009 and June 2022 in the Wilhelmina Children's Hospital were retrospectively reviewed.A total of 127 infants were included of which 74 infants with an iCP and 53 infants with RS. The group of infants with RS consisted of 35 infants with non-isolated RS (niRS) and 18 infants with isolated RS (iRS). Significant more PRD were seen in infants with RS compared to infants with an iCP (14/53 versus 9/74; p = 0.04). Especially infants with niRS have a significant higher risk of developing PRD in comparison with infants with an iCP (OR = 4.16, 95% CI [1.17–15.99], p = 0.031). The preoperative palatal plate screening in infants with RS (n = 25) did not show abnormalities and had no effect on the perioperative policy.Within the limitations of this study it seems that infants with niRS are more prone to develop PRD following primary CPR when compared to infants with iRS or an iCP. No clear benefit was found in postponing surgery until 12 months or later in infants with RS to avoid PRD. The preoperative palatal plate screening did not demonstrate signs of UAO in infants with RS that developed PRD. These findings suggest that preoperative analysis with palatal plate has a low predictive value.

Hearing Screening for Congenital CytoMegaloVirus-Exploring Parents' Experiences of Completing Targeted Congenital Cytomegalovirus Screening at the Time of Their Infants' Newborn Hearing Screening.

Background/Objectives: Congenital cytomegalovirus (cCMV) is the leading infectious cause of sensorineural hearing loss and neurodevelopmental disabilities, with prompt detection (<21 days of life) required to enable accurate diagnosis and anti-viral treatment where clinically appropriate. International guidelines recommend cCMV screening for infants who do not pass their Universal Newborn Hearing Screening (UNHS). This study aimed to explore parental experiences of targeted cCMV screening through the UNHS in Victoria, Australia between 2019 and 2020 (HearS-cCMV study). Methods: A qualitative study comprising 18 semi-structured interviews with parents who took saliva swabs from their infants who did not pass their UNHS. A maximum variation sampling strategy was used with data analysed using thematic analysis. Results: Four themes described 18 parents' experiences of cCMV screening: (1) parents' lack of CMV awareness prior to cCMV screening; (2) overall positive experience; (3) varied understanding of CMV post screening; and (4) parents were glad to screen their infant for cCMV. Enablers of targeted cCMV screening included the swab being simple and non-invasive, being easier to complete in the hospital than at home, and the screening being well delivered by the staff. Barriers included a potential increase in anxiety, especially with false positives, and the timing of cCMV screening coinciding with their infant not passing UNHS being difficult for some parents. Conclusions: Parent experiences of targeted cCMV screening were positive. Increasing public knowledge of cCMV and training staff members to complete the CMV swab would reduce the risk of false positives and associated parental anxiety. This would facilitate successful routine targeted cCMV screening.

Enhancing Caregiver Skills in Malnutrition Risk Screening for Infants and the Elderly A Community Health Disaster Prevention Initiative through Focus Group Discussions

The issue of malnutrition among infants and the elderly presents a significant public health challenge, particularly in communities with limited healthcare resources. This study aimed to enhance the skills of caregivers in screening for malnutrition risks as a preventive measure against health disasters, utilizing Focus Group Discussions (FGDs). The method involved the collection and analysis of health service management data by health cadres, followed by the design and implementation of FGD programs targeting caregivers, involving 16 health cadres in October and November. The program comprised stages of preparation, introduction, topic discussion, analysis, conclusion, and evaluation, utilizing various media tools. The findings revealed an improvement in knowledge and awareness among caregivers regarding malnutrition screening, with the majority having undergone specialized malnutrition training. However, the application of screening practices remains suboptimal. This initiative highlights the potential of community-based interventions in addressing malnutrition risks among vulnerable groups, suggesting a need for continued education, improved screening practices, and enhanced access to nutrition information. The study concludes that FGDs are an effective method for improving caregiver capabilities in malnutrition risk screening, thereby contributing to the prevention of health disasters in community settings.

Effect of prenatal glucocorticoid therapy on hearing screening in premature infants

Objective:To explore the effect of prenatal glucocorticoids therapy on hearing screening in premature infants Methods:Data of 693 preterm infants with gestational age of 24-34+6weeks admitted to theJiangxi Maternal and Child Health Hospital within 24 h after birth from June 2022 to June 2023 were retrospectively analyzed. The infants were divided into the DXM group （544 cases） and the non-DXM group （149 cases） based on whether dexamethasone （DXM） was administered prenatally. General data of preterm infants and parturients in two groups were compared, and the effects of different doses and timing of DXM on hearing screening were analyzed. Results:In the terms of preliminary hearing screening. the pass rate of initial hearing screening in DXM group was significantly higher than that in non-DXM group（53.9% vs 35.6%）, with statistical significance（P<0.05）. Further subgroup analysis showed that the passing rate of preliminary hearing screening in adequate prenatal dose（=4 doses） DXM group（58.1%） was significantly higher than that in insufficient group（48.0%） and excessive group（42.4%）, with statistical significance（P<0.05）. Administering DXM 48 hours to 7 days before birth resulted in a higher pass rate for initial hearing screening compared to administration <48 hours or >7 days before birth （56.4% vs. 48.6%）, with a statistically significant difference （P < 0.05）. In terms of re-hearing screening, the pass rate of secondary hearing screening was not significantly correlated with DXM treatment（P>0.05）, but was significantly correlated with gestational age, birth weight, hospital stays, invasive mechanical ventilation, and common neonatal diseases（bronchopulmonary dysplasia, respiratory distress syndrome）（P<0.05）. Among them, bronchopulmonary dysplasia was an independent risk factor forsecondary hearing screening referral（P<0.05）. Conclusion:A single course of adequate dexamethasone use within 48 h-7 d of prenatal has a positive effect on the preliminary hearing screening of preterm infants.

Assessment of the Knowledge of Retinopathy of Prematurity (ROP) in a Cohort of Nurses in Ogun State, Nigeria

Background: Retinopathy of prematurity (ROP) is a major cause of childhood blindness that can be prevented by early detection and treatment. Nurses and midwives are important stakeholders in neonatal services who can help increase awareness to ensure early detection, thereby reducing the risk of blindness. Objectives: To determine the knowledge of a cohort of nurses in Ogun state about ROP and ROP screening. Methods: A cross-sectional study was conducted among nurses and midwives in Ogun State, Nigeria. A self-administered structured Google form (questionnaire) was used to obtain information on their knowledge and practice concerning ROP in their centres. Results: A total of 117 nurses participated in the study. These comprised 93.2% females, and the mean age was 38.5±3.5years. The majority of the participants were within the 41-50 years age group. A total of 70.9% had ever worked in a neonatal unit. Ninety-seven (82.9%) were aware of ROP, of which 76.1% could correctly define the condition. Sixty-nine per cent had a good knowledge score for ROP, while there was a poor knowledge score for screening in 62.4%. Conclusion: Though the participants had good knowledge about ROP, their knowledge of screening for early detection was poor. There is a need for intense dissemination of information on ROP, especially the need for screening of newborn infants among nurses and midwives.

Pediatric Hepatitis C Screening by Maternal Hepatitis C Infection Status During Pregnancy.

Screening for perinatal hepatitis C virus (HCV) infections remains low despite increases in the number of at-risk infants. It is unknown if pediatric screening varies by maternal HCV infection status during pregnancy. Using a retrospective cohort of mother-infant pairs born from 2015 to 2019, we identified women with HCV and classified their infection status during pregnancy as active, probable, or previous based on HCV RNA testing obtained during pregnancy. We used logistic regression to assess odds ratio (OR) of infant screening based on maternal HCV infection status. Of the 503 HCV-exposed infants, 137 (27%) were born to women with previous infection, 106 (21%) to women with probable infection, and 260 (52%) to women with active infection. Completion of pediatric screening varied by maternal infection status (43% previous infection; 49% probable infection; 58% active; P = 0.014). Pediatric HCV infection ranged from 1.7 to 7.7% by maternal viral load (VL) status. Infants born to women with active infection were 2.5 times more likely (95% confidence intervals [CI]: 1.5-4.4) to have a screening test ordered versus infants of previously infected women; there was no difference for infants of women with probable infection (OR:1.6; 95% CI: 0.9-3.2). Test ordering was also associated with maternal smoking status, a visit at ≥18 months of age, and outpatient documentation of HCV exposure. If a test was ordered, there was no difference in test completion by maternal infection status. However, test completion was associated with living with a nonbiologic parent and earlier birth year. Infants born to women with active infection are more likely to be screened for HCV, but many children continue to be unscreened and pediatric HCV infections are going undetected. New Centers for Disease Control and Prevention pediatric HCV screening guidelines recommending earlier screening may improve screening rates.

Prevalence of Unscreened Premature Infants Presenting With Advanced Stages of Retinopathy of Prematurity in South India: An Analysis of 220 Eyes.

To evaluate the demographic profile of premature infants presenting with stage 4B and stage 5 retinopathy of prematurity (ROP) at a tertiary referral center in South India. This was a retrospective review including all premature infants with stage 4B and 5 ROP between January 1, 2015 and December 31, 2022. Parameters included the newborns born at the tertiary care nursery of various institutes, gestational age, birth weight, age at presentation to the hospital, risk factors, screening details, neonatal intensive care unit details, reason for consultation, and timing of referral to the center. Two hundred twenty eyes of 110 premature infants were included. Of 110 infants, 6 were born within the same city and 104 were from other districts or states. Mean birth weight was 1,125 ± 360 g and mean gestational age at birth was 28 ± 2 weeks. Mean age was 42 ± 82 weeks and median age at presentation was 17 weeks (range: 2.86 to 591 weeks). Male-to-female infant ratio was 1.34:1. Fifty (45.4%) infants had bilateral stage 5 ROP, 17 (15.4%) had stage 5 in one eye and stage 4B in the other eye, 15 (13.6%) had bilateral stage 4B and 23 (20.9%) had stage 4B in one eye and stage 4A/stage 3 in the other eye. Five (4.5%) had stage 5 in one eye and vitreous hemorrhage/stage 4A in the other eye. Among those with bilateral stage 5 ROP, 90% were from neighboring districts/states. Fifty-two (47.27%) infants underwent vitreoretinal surgery. Of 110 infants, 28 (25.45%) were self-referred (late presentation due to family-related issues), 80 (72.73%) were referred by ophthalmologists either after a few sessions of late screening or for further management, 1 (0.91%) was referred through telescreening, and 1 was referred from pediatricians directly to the hospital. This study highlights the importance of awareness of the disease and screening of premature infants. Lack of these two factors leads to late presentation of these infants with advanced stages and serious implications. [J Pediatr Ophthalmol Strabismus. 20XX;X(X):XX-XX.].

Retinopathy of Prematurity in Neonatal Intensive Care Unit at King Fahd University Hospital, Eastern Province: Prevalence, Risk Factors, and pattern of severity Seven years’ experience.

Background Premature newborns are susceptible to retinopathy of prematurity (ROP), a vasoproliferative disease of the developing retinal vessels, which is a major cause of potentially avoidable blindness. Due to geographical variations in newborn care, geographic variations in the epidemiology of ROP have been observed internationally during the last several decades. There was a correlation between the severity of the condition and the number of prenatal, postnatal, and other risk factors. This study aimed to examine the incidence and risk factors associated with retinopathy of prematurity in preterm infants. Methods A retrospective review of preterm newborns evaluated for retinopathy of prematurity between January 2016 and December 2022 was carried out at King Fahd Hospital of the University (KFHU), Khobar, Saudi Arabia. Infants who fulfilled the screening criteria (GA &lt; 34 or Birth Weight (WT) ≤ 1500 g) underwent the screening test, and the International Classification of Retinopathy of Prematurity was used to classify retinopathy of prematurity. Risk factors and demographic information regarding ROP were assessed. Statistical analysis was performed using SPSS (version 20) with a 95% confidence interval (CI). Statistical significance was set at p &lt; 0.05. Results Among the 200 preterm neonates that were evaluated and admitted to neonatal critical care units, 37% exhibited premature retinopathy, with 46.7% of those cases being in stage 1. The development of ROP was linked to gestational age, length of mechanical ventilation, septicemia, intraventricular hemorrhage, bronchopulmonary dysplasia, respiratory distress syndrome, and septicemia, according to univariate and multivariate logistic regression analyses. Conclusion The incidence of total retinopathy in premature infants in this population was 37%. Evaluating these risk factors during the screening of high-risk premature infants will help determine the appropriate timing of examinations and treatment.

It is Time to Screen for Homozygous Familial Hypercholesterolemia in the United States.

Homozygous familial hypercholesterolemia (HoFH) is an ultra-rare inherited condition that affects approximately one in 300,000 people. The disorder is characterized by extremely high, life-threatening levels of low-density lipoprotein (LDL) cholesterol from birth, leading to significant premature cardiovascular morbidity and mortality, if left untreated. Homozygous familial hypercholesterolemia is severely underdiagnosed and undertreated in the United States (US), despite guidelines recommendations for universal pediatric lipid screening in children aged 9-11. Early diagnosis and adequate treatment are critical in averting premature cardiovascular disease in individuals affected by HoFH. Yet, an unacceptably high number of people living with HoFH remain undiagnosed, misdiagnosed, and/or receive a late diagnosis, often after a major cardiovascular event. The emergence of novel lipid-lowering therapies, along with the realization that diagnosis is too often delayed, have highlighted an urgency to implement policies that ensure timely detection of HoFH in the US. Evidence from around the world suggests that a combination of universal pediatric screening and cascade screening strategies constitutes an effective approach to identifying heterozygous familial hypercholesterolemia (HeFH). Nevertheless, HoFH and its complications manifest much earlier in life compared to HeFH. To date, little focus has been placed on the detection of HoFH in very young children and/or infants. The 2023 Updated European Atherosclerosis Society Consensus Statement on HoFH has recommended, for the first time, broadening pediatric guidelines to include lipid screening of newborn infants. Some unique aspects of HoFH need to be considered before implementing newborn screening. As such, insights from pilot studies conducted in Europe may provide some preliminary guidance. Our paper proposes a set of actionable measures that states can implement to reduce the burden of HoFH. It also outlines key research and policy gaps that need to be addressed in order to pave the way for universal newborn screening of HoFH in the US.

Hearing Screening of Newborns and Infants by Otoacoustic Emission

Introduction: This study was undertaken to assess the hearing of newborns and infants using otoacoustic emission as a screening tool. Screening of hearing impairment in infants is done before the third month of life, and intervention, if any, required by the age of 6 months is of prime importance. The aim of this study was to screen 215 newborns for hearing.Materials and Methods: About 215 neonates and infants were included after a thorough ENT examination and history taking. Two stage DPOAE was done on the newborns with 2, 3, 4, and 6 kHz frequencies in both ears. Newborns who failed the first OAE in any ear were tested for a second OAE in both ears within 15 days to 3 months.Result: Out of 215 cases, 10.2% (n = 22) babies had referred results for 1st DPOAE in which low birth weight, prematurity, respiratory distress syndrome, post-natal sepsis, and maternal anemia and pregnancy-induced hypertension were among the identified infantile and maternal risk factors respectively. For these infants, repeated DPOAE screening was done. On repeat DPOAE testing, all babies passed the DPOAE 2nd test.Conclusion: This study was an attempt to show the importance of developing a hearing screen with DPOAE when repeated appropriately. The hearing of all infants should be screened at no later than one month of age; those that do not pass screening should have a comprehensive audiological evaluation at no later than three months of age, and infants with confirmed hearing loss should receive appropriate intervention by six months of age.