[Clinical phenotype and molecular genetic analysis of seven children with CHARGE syndrome].

OBJECTIVE: To explore the clinical phenotype and genetic etiology for seven children with CHARGE syndrome (CS). METHODS: Clinical data of seven children with CS diagnosed between March 2020 and December 2022 at the Children's Hospital Affiliated to Zhengzhou University were analyzed. Genomic DNA was extracted from peripheral blood samples from the children and their parents, and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing and pathogenicity analysis. RESULTS: The ages of the children had ranged from 1 day after birth to 12 years old, and all of them had shown growth retardation. The reasons for their admission had included postnatal breathing, swallowing and feeding difficulties in five cases. One child was found to have abnormal external genitalia in conjunct with hearing impairment, whilst another child had shown no secondary sexual characteristics during puberty. All of the children were found to harbor CHD7 gene variants, which included 3 nonsense variants, 2 frameshifting variants and 2 missense variants, i.e., c.6292C>T (p.R2098*), c.2754G>A (p.W918*), c.469C>T (p.R157*), c.3308T>A (p.V1103D), c.7111delC (p.Q2371Kfs), c.6023delA (p.D2008Vfs) and c.3565C>T (p.R1189C). All of the variants were de novo in origin. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.3308T>A (p.V1103D) and c.3565C>T (p.R1189C) variants were rated as likely pathogenic (PS2+PM2_Supporting+PP3), whilst the remainders were rated as pathogenic (PVS1+PS2+PM2_Supporting). CONCLUSION: There is strong clinical and genetic heterogeneity in CS. Early genetic testing may facilitate accurate diagnosis. The detection of novel variants has expanded the phenotypic spectrum of CS and the mutational spectrum of the CHD7 gene.

[Comprehensive diagnosis and genetic analysis of two children with ring chromosome 18].

OBJECTIVE: To clarify the genetic diagnosis of two children with ring chromosome 18 and explore their mechanisms and clinical phenotypes. METHODS: Two patients treated at the Children's Hospital of Henan Province respectively in June 2022 and March 2023 were selected as the study subjects. Genetic testing and diagnosis were carried out through copy number variation sequencing (CNV-seq), G-banded chromosomal karyotyping, and whole exome sequencing (WES). RESULTS: Child 1 had mainly manifested developmental delay, white matter hypoplasia, type 1 diabetes mellitus, and micropenis. He was found to have a chromosomal karyotype of 46,XY,r(18)(p11.21q22.1)[40]/46,XY[7], and CNV-seq results showed that he has a 14.86 Mb deletion at 18p11.21p11.32 and a 14.02 Mb deletion at 18q22.1q23. Child 2 had peculiar facial features, delayed white matter myelination, developmental delay, atrial septal defect, severe sensorineural deafness, and congenital laryngeal stridor. He was found to have a chromosomal karyotype of 46,XY,r(18)(p11.2q23). CNV-seq result proved that he had a 14.86 Mb deletion at 18p11-21p11.32 and a 20.74 Mb deletion at 18q21.32q23. WES has failed to detect single nucleotide variants (SNVs) in either child, but revealed a large segmental deletion at chromosome 18 in both of them. CONCLUSION: Both children were diagnosed with ring chromosome 18 syndrome. The different size of the deletional fragments in the 18q region and mosaicism of ring chromosome 18 in child 1 may underlay the variation in their clinical phenotypes. The type 1 diabetes mellitus and micropenis noted in both children are novel features for ring chromosome 18 syndrome.

Health Disparities in the Management and Outcomes of Critically Ill Children and Neonates: A Scoping Review.

To date, health disparities in critically ill children have largely been studied within, not across, specific intensive care unit (ICU) settings, thus impeding collaboration which may help advance the care of critically ill children. The aim of this scoping review is to summarize the literature intentionally designed to examine health disparities, across 3 primary ICU settings (neonatal ICU, pediatric ICU, and cardiac ICU) in the United States. We included over 50 studies which describe health disparities across race and/or ethnicity, area-level indices, insurance status, socioeconomic position, language, and distance.

Effectiveness of Nutrition Support Team Intervention in Pediatric Patients with Cancer.

Malnutrition in children with cancer is associated with poor prognosis. This study aimed to determine whether nutritional support team (NST) interventions prevent adverse events and improve the nutritional status in pediatric patients admitted for cancer treatment. This was a historical cohort study of pediatric patients with acute lymphocytic leukemia, acute myeloid leukemia, neuroblastoma, or brain tumor who received chemotherapy or underwent hematopoietic stem cell transplantation. Patients admitted between June 2013 and October 2014 were classified into the intervention group. Those admitted between January 2011 and December 2012 were classified into the control group. We created a homogeneous probability model using the inverse probability of treatment weighting method, and compared outcomes. A total of 75 patients were included in the study (38 and 37 in the intervention and control groups, respectively). The intervention group had significantly fewer incidents of nothing by mouth (nil per os [NPO]) (p=0.037) and days of NPO (p=0.046) than the control group. There was no significant difference between the intervention and control groups regarding the change in body mass index z-score between admission and discharge (p=0.376). NST interventions for children with cancer were associated with a reduction in the number of NPO occurrences and NPO days. These findings suggest that NST interventions contribute to continued oral intake.

The role of secondary imaging in children aged under 24 months with proven skull fracture on initial computed tomography scan.

To assess the clinical significance of repeated head imaging in children with minor blunt force head trauma who underwent computed tomography (CT), limited to those who exclude with very low risk of important traumatic brain injury. We conducted a retrospective cohort study of children aged under 24 months with minor head trauma who underwent repeated head imaging and initial CT scans according to the Pediatric Emergency Care Applied Research Network (PECARN) rules. We enrolled 741 children and 110 with skull fracture (SF). Of the 96 patients with SF on initial CT who received head magnetic resonance imaging (MRI) a few days later, 36 (37.5%) patients' initial CT findings revealed intracranial injury in addition to SF. The number of children who exhibited new intracranial findings on follow-up MRI among those with isolated SF without intracranial damage and those with SF and intracranial injury on initial CT was 25/60 (40.7%) and 14/36 (38.9%), respectively. Subcutaneous hematoma on arrival and intersection with the coronal suture and lines of fracture were significantly associated with new intracranial findings. Four children with SF and intracranial injury on initial CT received neurosurgical intervention. No intervention was needed for those with isolated SF. We demonstrated that a proportion of children with head trauma had new findings on follow-up MRI, particularly in those without very low risk of clinically important traumatic brain injury. Patients who exhibit new intracranial MRI findings that satisfy the PECARN rules may not require neurosurgical intervention if their initial CT finding is isolated SF.

Evaluation of the repeatability of kinesiological measurements of spontaneous infant movements using OSESEC computer analysis algorithms.

Purpose: There is a need to create objective and reproducible tool for assessing the quality of infant movements. It's substantially important to detect movement disorders in infants as early as possible. The study aimed to evaluate the reproducibility of kinesiological measurements of spontaneous movements performed by 51 infants (aged 6 to 15 weeks) recorded three times for two consecutive days using OSESEC computer analysis algorithms by determining numerical values of parameters, i.e., speed, acceleration, direction, and movement trajectory. Methods: The study group consisted of 51 infants. The diagnostic method of Prechtl was used for qualitative assessment. The quantitative assessment was based on the use of a OSESEC system. Numerical values for all movement parameters were determined, and the data obtained in the study were used for statistical analysis. Results: Analysis including movement parameter values on three consecutive recordings for the same infant revealed no statistically significant differences in location ( p = 0.073), range ( p = 0.557), shape ( p = 0.289), mean acceleration ( p = 0.124) and mean speed ( p = 0.767). This confirms the reproducibility of measurements of the proposed parameters of the objectification of spontaneous infant movements. Conclusions: The interpretability and accuracy of the presented parameters were proved. All parameters estimation is fully automated. Further research and testing requires a larger study group to create an objective diagnostic device for infants.

Effect of maternal prebiotic supplementation on human milk immunological composition: Insights from the SYMBA study.

BACKGROUND: Immunomodulatory proteins in human milk (HM) can shape infant immune development. However, strategies to modulate their levels are currently unknown. This study investigated whether maternal prebiotic supplementation alters the levels of immunomodulatory proteins in HM. METHODS: The study was nested within the SYMBA double-blind randomized controlled trial (ACTRN12615001075572), which investigated the effects of maternal prebiotic (short-chain galacto-oligosaccharides/long-chain fructo-oligosaccharides) supplementation from <21 weeks gestation during pregnancy until 6 months postnatal during lactation on child allergic disease risk. Mother-child dyads receiving prebiotics (n = 46) or placebo (n = 54) were included in this study. We measured the levels of 24 immunomodulatory proteins in HM collected at 2, 4, and 6 months. RESULTS: Cluster analysis showed that the overall immunomodulatory protein composition of milk samples from both groups was similar. At 2 months, HM of prebiotic-supplemented women had decreased levels of TGF-ß1 and TSLP (95% CI: -17.4 [-29.68, -2.28] and -57.32 [-94.22, -4.7] respectively) and increased levels of sCD14 (95% CI: 1.81 [0.17, 3.71]), when compared to the placebo group. At 4 months, IgG1 was lower in the prebiotic group (95% CI: -1.55 [-3.55, -0.12]) compared to placebo group. CONCLUSION: This exploratory study shows that prebiotic consumption by lactating mothers selectively alters specific immunomodulatory proteins in HM. This finding is crucial for understanding how prebiotic dietary recommendations for pregnant and lactating women can modify the immune properties of HM and potentially influence infant health outcomes through immune support from breastfeeding.

Risk factors and hearing outcomes in infants and young children in KwaZulu-Natal, South Africa.

BACKGROUND:  Targeted new-born hearing screening, based on high risk factors is recommended in the absence of universal new-born hearing screening in resource-constrained settings. The relevance of risk factors listed in the guidelines of high-income countries and used by low-middle income countries remains relatively unknown. Risk factors consistent with the epidemiological profile, evolution of risks and disease burden in these countries need to be considered. OBJECTIVES:  This study aimed to profile the frequency of risk factors and their manifestation in hearing outcomes of young children in the KwaZulu-Natal province of South Africa. METHOD:  A chart review of N = 1433 patients' archival audiology records was conducted, conveniently sampled from a single tertiary hospital (n = 351), a provincial assessment and therapy centre (n = 649), a university clinic (n = 291), and two schools for the deaf (n = 142). RESULTS:  Overall, 56% of the participants presented with either a conductive, sensorineural or a mixed hearing loss; 62% of the children had between 1 and 2 risk factors present (Mean [M] = 1.1; standard deviation [s.d.] = 0.98). Admission to neonatal intensive care unit, maternal infections, bacterial and viral infections and chemotherapy, from the Joint Committee on Infant Hearing list of high risk factors were significantly associated with hearing loss (p  0.05). Known non-JCIH risks, emerging risks and other statistically significant contextually relevant risk factors were also noted. CONCLUSION:  Understanding the profile of high risk factors in a given context has implications for prevention, early hearing identification and intervention services.Contribution: Targeted new-born hearing screening needs to be based on risk factors that are contextually relevant. This study is one of the first profiling high risk factors for hearing loss in children in KZN, the province with the second highest population in South Africa.

Molecular detection and genotyping of HMPV in patients with severe acute respiratory infection in India.

BACKGROUND: Human metapneumovirus (HMPV) is a common respiratory pathogen that causes respiratory tract infections. In India, HMPV has been identified as one of the leading causes of morbidity and mortality in infants and young children with respiratory tract infections. The most reported sublineages of HMPV in India are B1, B2, A2b and A2c. OBJECTIVE: A retrospective study was conducted to determine the circulating genotypes of HMPV among SARI cases from January 2016 to December 2018. MATERIALS AND METHODS: Positive throat swab samples were confirmed with real-time RT-PCR. Subsequently, these samples were analysed using semi-nested conventional RT-PCR targeting the G gene, followed by sequencing and phylogenetic analysis. Clinical data analysis was also performed using SPSS 15.0 software. RESULTS: All 20 samples from the SARI cases were classified under the A2c sublineage of HMPV. Phylogenetic analysis indicated that these strains were genetically related to those circulating in Japan, China, and Croatia. Among the samples, ten showed 111-nucleotide duplications, while the other ten had 180-nucleotide duplications. CONCLUSION: Clinical analysis showed that four cases had coinfections with other pathogens. Our extensive analysis of patient samples determined that HMPV, especially the A2c genotype, significantly contributed to SARI cases within our study population, which signifies the importance of considering HMPV as a probable aetiological agent when investigating SARI outbreaks.

Disease burden of AIDS in last 30-year period and its predicted level in next 25-years based on the global burden disease 2019.

BACKGROUND: This study examines global trends in acquired immune deficiency syndrome (AIDS) incidence, mortality, and disability-adjusted life years (DALYs) from 1990 to 2019, focusing on regional disparities in AIDS incidence, mortality, and DALYs across various levels of socio-demographic index (SDI). It also investigates variations in AIDS incidence, mortality, and DALYs across different age groups, and projects specific trends for the next 25 years. METHODS: Comprehensive data on AIDS from 1990 to 2019 in 204 countries and territories was obtained from a GBD study. This included information on AIDS incidence, mortality, DALYs, and age-standardized rates (ASRs). Projections for AIDS incidence and mortality over the next 25 years were generated using the Bayesian age-period-cohort model. RESULTS: From 1990 to 2019, the global incidence of HIV cases increased from 1,989,282 to 2,057,710, while the age-standardized incidence rate (ASIR) decreased from 37.59 to 25.24 with an estimated annual percentage change (EAPC) of -2.38. The ASIR exhibited an upward trend in high SDI and high-middle SDI regions, a stable trend in middle SDI regions, and a downward trend in low-middle SDI and low SDI regions. In regions with higher SDI, the ASIR was higher in males than in females, while the opposite was observed in lower SDI regions. Throughout 1990 to 2019, the age-standardized death rate (ASDR) and age-standardized DALY rate remained stable, with EAPCs of 0.24 and 0.08 respectively. Countries with the highest HIV burden affecting women and children under five years of age are primarily situated in lower SDI regions, particularly in sub-Saharan Africa. Projections indicate a significant continued decline in the age-standardized incidence and mortality rates of AIDS over the next 25 years, for both overall and by gender. CONCLUSIONS: The global ASIR decreased from 1990 to 2019. Higher incidence and death rates were observed in the lower SDI region, indicating a greater susceptibility to AIDS among women and < 15 years old. This underscores the urgent need for increased resources to combat AIDS in this region, with focused attention on protecting women and < 15 years old as priority groups. The AIDS epidemic remained severe in sub-Saharan Africa. Projections for the next 25 years indicate a substantial and ongoing decline in both age-standardized incidence and mortality rates.

Formal and informal human milk donation in New Zealand: a mixed-method national survey.

BACKGROUND: Mother's milk provides optimal nutrition for infants. Donor human milk (DHM) is recommended for low birthweight infants when mother's milk is unavailable. Little is known about human milk (HM) donation practices in New Zealand (NZ), where few HM banks are available. This study aimed to investigate parents' and health professionals' (HP) experiences with formal and informal HM donation in NZ. METHODS: Two electronic surveys were disseminated in 2022 to parents and HPs involved with HM donation in NZ. The surveys covered respondents' views and experiences with HM donation. HPs were also asked about HM donation practices in their workplace. Chi-squared and Fisher-Freeman-Halton exact tests were used for quantitative analysis and qualitative data were thematically analysed using inductive approach. RESULTS: A total of 232 HP and 496 parents completed the surveys. Most parents either donated (52%) or sought DHM (26%) for their infant and most donations were informal, arranged between individuals (52%) or through hospital staff (22%). HP reported DHM was used in 86% of facilities, with only 20% of donations facilitated by HM banks. Almost half (48%) of HP stated they would like to use DHM in their workplace but access was limited. The most common screening processes undertaken by parents and HP before informal HM donation were lifestyle including smoking status, medication, drug and alcohol intake (44% and 36%, respectively) and serological screening such as CMV, HIV, Hepatitis C or B (30% and 39%, respectively). Pasteurisation of DHM obtained informally was not common. Most donors were satisfied with their HM donation experiences (informal and/or formal, 91%) and most respondents supported use of DHM in hospitals and community. Participants reported HM donation could be improved (e.g., better access) and identified potential benefits (e.g., species-specific nutrition) and risks (e.g., pathogens) for the infant. Potential benefits for the donor were also identified (e.g., altruism), but respondents acknowledged potential negative impacts (e.g., cost). CONCLUSION: Informal HM donation in NZ is common. Most parents and HP support the use of DHM; however, improvements to current practices are needed to ensure safer and more equitable access to DHM.

Targeted gene sequencing and transcriptome sequencing reveal characteristics of NUP98 rearrangement in pediatric acute myeloid leukemia.

BACKGROUND: NUP98 rearrangements (NUP98-r) are rare but overrepresented mutations in pediatric acute myeloid leukemia (AML) patients. NUP98-r is often associated with chemotherapy resistance and a particularly poor prognosis. Therefore, characterizing pediatric AML with NUP98-r to identify aberrations is critically important. METHODS: Here, we retrospectively analyzed the clinicopathological features, genomic and transcriptomic landscapes, treatments, and outcomes of pediatric patients with AML. RESULTS: Nine patients with NUP98-r mutations were identified in our cohort of 142 patients. Ten mutated genes were detected in patients with NUP98-r. The frequency of FLT3-ITD mutations differed significantly between the groups harboring NUP98-r and those without NUP98-r (P = 0.035). Unsupervised hierarchical clustering via RNA sequencing data from 21 AML patients revealed that NUP98-r samples clustered together, strongly suggesting a distinct subtype. Compared with that in the non-NUP98-r fusion and no fusion groups, CMAHP expression was significantly upregulated in the NUP98-r samples (P < 0.001 and P = 0.001, respectively). Multivariate Cox regression analyses demonstrated that patients harboring NUP98-r (P < 0.001) and WT1 mutations (P = 0.030) had worse relapse-free survival, and patients harboring NUP98-r (P < 0.008) presented lower overall survival. CONCLUSIONS: These investigations contribute to the understanding of the molecular characteristics, risk stratification, and prognostic evaluation of pediatric AML patients.

Epidemiology and genetic characterization of human parainfluenza virus-1 infection in pediatric patients from Hangzhou China, 2021-2022.

BACKGROUND: Human parainfluenza virus-1 (HPIV-1) is a notable pathogen instigating acute respiratory tract infections in children. The article is to elucidate the epidemiological and genetic characteristics of HPIV-1 circulating in Hangzhou during the period of 2021-2022. METHODS: A cohort of 2360 nasopharyngeal swabs were amassed and subsequently examined via RT-PCR, with HPIV-1 positive samples undergoing P gene sequencing. RESULTS: The highest HPIV-1 infection rates were found in children aged between 3 and 6 years. A pronounced positive rate persisted through the latter half of 2021, with a notable decline observed in the initial half of 2022. All HPIV-1 strains could be clustered into 2 groups: Cluster 1, with strains similar to those found in Japan (LC764865, LC764864), and Cluster 2, with strains similar to the Beijing strain (MW575643). CONCLUSION: In conclusion, our study contributes to the comprehensive data on the epidemiological and genetic characteristics of HPIV-1 in pediatric patients from Hangzhou, post the COVID-19 peak.

[Fontan associated liver disease]. / Maladie hépatique associée à la chirurgie de Fontan.

Fontan surgery is vital for infants born with a single-ventricle heart. This intervention establishes a new blood flow circuit bypassing the single ventricle, thereby the separating pulmonary and systemic circulation to preserve single ventricular function. However, it carries risks of hepatic complications, collectively termed Fontan-associated liver disease (FALD), characterized by progressive hepatic congestion and fibrosis potentially leading to an equivalent of cirrhosis. Diagnosis and staging of FALD are complex, requiring multidisciplinary management. In advanced FALD, consideration is given to heart transplantation alone or combined heart-liver transplantation, underscoring the importance of an integrated approach to optimize care for these increasingly more common patients.

La chirurgie de Fontan est vitale pour les nouveau-nés naissant avec un cœur univentriculaire. Cette intervention crée un ­nouveau circuit sanguin palliant l'absence de ventricule sous-pulmonaire en connectant les veines caves directement aux ­artères pulmonaires. Elle permet de séparer les circulations pulmonaire et ­systémique et de préserver la fonction du ventricule unique. Cela expose néanmoins les patients à des complications à moyen et long terme, parmi lesquelles l'atteinte hépatique, nommée ­Fontan-Associated Liver Disease (FALD), se caractérisant par une congestion et une fibrose hépatiques progressives pouvant conduire à l'équivalent d'une cirrhose et à ses complications. Son diagnostic ainsi que l'évaluation de sa sévérité ­impliquent différents éléments biologiques, radiologiques et ­histopathologiques ainsi qu' une expertise multidisciplinaire. Lors de FALD avancée, la transplantation cardiaque seule ou combinée cœur-foie est discutée, au cas par cas.

Temporal Trends of Infant Mortality Secondary to Congenital Heart Disease: National CDC Cohort Analysis (1999-2020).

BACKGROUND: Infant mortality continues to be a significant problem for patients with congenital heart disease (CHD). Limited data exist on the recent trends of mortality in infants with CHD. METHODS: The CDC WONDER (Centers for Disease Control and Prevention Wide-Ranging Online Data for Epidemiologic Research) was queried to identify deaths occurring within the United States with CHD listed as one of the causes of death between 1999 and 2020. Subsequently, trends were calculated using the Joinpoint regression program (version 4.9.1.0; National Cancer Institute). RESULTS: A total of 47,015 deaths occurred in infants due to CHD at the national level from the year 1999 to 2020. The overall proportional infant mortality (compared to all deaths) declined (47.3% to 37.1%, average annual percent change [AAPC]: -1.1 [95% CI -1.6 to -0.6, p < 0.001]). There was a significant decline in proportional mortality in both Black (45.3% to 34.3%, AAPC: -0.5 [-0.8 to -0.2, p = 0.002]) and White patients (55.6% to 48.6%, AAPC: -1.2 [-1.7 to -0.7, p = 0.001]), with a steeper decline among White than Black patients. A statistically significant decline in the proportional infant mortality in both non-Hispanic (43.3% to 33.0%, AAPC: -1.3% [95% CI -1.9 to -0.7, p < 0.001]) and Hispanic (67.6% to 57.7%, AAPC: -0.7 [95% CI -0.9 to -0.4, p < 0.001]) patients was observed, with a steeper decline among non-Hispanic infant population. The proportional infant mortality decreased in males (47.5% to 53.1%, AAPC: -1.4% [-1.9 to -0.9, p < 0.001]) and females (47.1% to 39.6%, AAPC: -0.9 [-1.9 to 0.0, p = 0.05]). A steady decline in for both females and males was noted. CONCLUSION: Our study showed a significant decrease in CHD-related mortality rate in infants and age-adjusted mortality rate (AAMR) between 1999 and 2020. However, sex-based, racial/ethnic disparities were noted, with female, Black, and Hispanic patients showing a lesser decline than male, White, and non-Hispanic patients.

Past trends and future projections of palliative care needs in Chile: analysis of routinely available death registry and population data.

BACKGROUND: The number of people with palliative care needs is projected to increase globally. Chile has recently introduced legislation for universal access to palliative care services for patients with severe and terminal illnesses, including non-cancer conditions. We aimed to estimate the number of people affected by serious health-related suffering and need for palliative care in Chile to 2050. METHODS: We used data on all deaths registered in Chile between 1997-2019 and population estimates for 1997-2050. We used Poisson regression to model past trends in causes of death adjusted by age, sex and population estimates, to project the number of deaths for each cause from 2021 to 2050. We applied the Lancet Commission on Palliative Care and Pain Relief weights to these projections to identify decedents and non-decedents with palliative care needs. RESULTS: Population palliative care needs in Chile are projected to increase from 117 (95% CI 114 to 120) thousand people in 2021 to 209 (95% CI 198 to 223) thousand people in 2050, a 79% increase (IRR 1.79; 95% CI 1.78-1.80). This increase will be driven by non-cancer conditions, particularly dementia (IRR 2.9, 95% CI 2.85-2.95) and cardiovascular conditions (IRR 1.86, 95% CI 1.83-1.89). By 2050, 50% of those estimated to need palliative care will be non-decedents (not expected to die within a year). CONCLUSIONS: Chile will experience a large increase in palliative care needs, particularly for people with dementia and other non-cancer conditions. Improved availability of high-quality services, expanded clinician training and new sustainable models of care are urgently required to ensure universal access to palliative care.

Prevalence and Risk Factors of Vitamin D, Calcium and Phosphate Deficiency among Apparently Healthy Children Aged 6-24 Months in a Semi-urban Community in Southwest, Nigeria.

BACKGROUND: Adequate levels of calcium, phosphate and Vitamin D are essential for bone physiology and growth, as well as preventing some common childhood illnesses. This study aimed to determine the prevalence of the deficiencies of these nutrients and factors affecting their serum levels in Nigerian children. METHODS: This was a cross-sectional study that involved 220 apparently healthy children aged 6-24 months in Ikenne Local Government Area of Ogun State, Nigeria. Serum calcium and phosphate were assayed using the calorimetric method, while Vitamin D (25-OH Vitamin D) was assayed with ELISA. RESULTS: The mean (±standard deviation [SD]) serum Vitamin D level was 55.07 ± 16.53 ng/ml, while the mean (±SD) serum calcium and phosphate were 2.27 ± 0.13 mmol/l and 1.28 ± 0.18 mmol/l, respectively. Eleven (5%) of the children had hypovitaminosis D, 23 (10.5%) had hypocalcaemia and 12 (5.5%) had hypophosphataemia. Factors found to be significantly associated with hypovitaminosis D included low consumption of milk and the use of a hijab veil, while malnutrition (both undernutrition and overnutrition) was significantly associated with hypocalcaemia. CONCLUSION: The prevalence levels of hypovitaminosis D and hypophosphataemia were low, while hypocalcaemia was more common. Low milk consumption and use of a hijab veil were risk factors for hypovitaminosis D, while malnutrition was a risk factor for hypocalcaemia. Malnourished children, especially overnourished ones, should be routinely screened for hypocalcaemia because of its high prevalence among them.

Factors Associated with the Outcome of 2023 Diphtheria Outbreak in Jigawa State, Nigeria: A Retrospective Review of the Surveillance Data.

OBJECTIVE: The objective of this study was to identify the factors associated with the outcome of the 2023 diphtheria outbreak in Jigawa State, Nigeria. METHODS: A descriptive cross-sectional study was conducted amongst all line-listed diphtheria cases reported from Jigawa State, Nigeria, using the 2023 Integrated Disease and Surveillance Response line list of cases that met the World Health Organization case definition of diphtheria. A total of 245 line-listed cases from January 2023 to December 2023 met the criteria for inclusion in the study. Data were analysed using IBM SPSS version 22.0 with a P value set at ≤5%. Binary logistic regression was used to identify the independent predictors of the outcome of the 2023 outbreak. RESULTS: The maximum age of the line-listed cases was 39 years, and the minimum was 1 year with a median of 8 (interquartile range = 5-8) years. More than two-thirds (68.2%) of the cases were ≥5 years of age. More than one-third of the cases (39.6%) were from the northeast senatorial zone of the state. Out of the total 245 cases, 14 died of the disease representing a case fatality rate of 6%, and an attack rate of 3.4 per 100,000 populations. The majority of the cases (95.5%) had fever, cough (81.2%), pharyngitis (86.9%), tonsillitis (96.7%) and laryngitis (82.0%). More diphtheria-related mortalities were recorded amongst cases <5 years of age (7.7%), female cases (5.9%), rural residence (7.7%) and cases from the northeast senatorial zone (8.2%) of the state. Significantly higher mortalities (8.8%, P = 0.003) were recorded amongst cases with nasopharyngitis. The odds of diphtheria-related mortality were higher amongst cases who presented clinically with nasopharyngitis and were 4 times more likely to die (adjusted odds ratio = 3.9; 95% confidence interval = 1.1-14.3) compared with those with no nasopharyngitis. CONCLUSIONS: Significantly higher mortalities were recorded amongst diphtheria cases whose samples were not taken, and those with nasopharyngitis. These findings underscored the importance of improved immunisation uptake, early and prompt case detection, investigation and proper management.

Home visits versus fixed-site care by community health workers and child survival: a cluster-randomized trial, Mali.

Objective: To test the effect of proactive home visits by trained community health workers (CHWs) on child survival. Methods: We conducted a two arm, parallel, unmasked cluster-randomized trial in 137 village-clusters in rural Mali. From February 2017 to January 2020, 31 761 children enrolled at the trial start or at birth. Village-clusters received either primary care services by CHWs providing regular home visits (intervention) or by CHWs providing care at a fixed site (control). In both arms, user fees were removed and primary health centres received staffing and infrastructure improvements before trial start. Using lifetime birth histories from women aged 15-49 years surveyed annually, we estimated incidence rate ratios (IRR) for intention-to-treat and per-protocol effects on under-five mortality using Poisson regression models. Findings: Over three years, we observed 52 970 person-years (27 332 in intervention arm; 25 638 in control arm). During the trial, 909 children in the intervention arm and 827 children in the control arm died. The under-five mortality rate declined from 142.8 (95% CI: 133.3-152.9) to 56.7 (95% CI: 48.5-66.4) deaths per 1000 live births in the intervention arm; and from 154.3 (95% CI: 144.3-164.9) to 54.9 (95% CI: 45.2-64.5) deaths per 1000 live births in the control arm. Intention-to-treat (IRR: 1.02; 95% CI: 0.88-1.19) and per-protocol estimates (IRR: 1.01; 95% CI: 0.87-1.18) showed no difference between study arms. Conclusion: Though proactive home visits did not reduce under-five mortality, system-strengthening measures may have contributed to the decline in under-five mortality in both arms.

IL13RA2 promotes progression of infantile haemangioma by activating glycolysis and the Wnt/ß-catenin signaling pathway.

Background: Interleukin 13 receptor subunit alpha 2 (IL13RA2) plays an essential role in the progression of many cancers. However, the role of IL13RA2 in infantile haemangioma (IH) is still unknown. Materials and Methods: IL13RA2 expression in IH tissues was analyzed using western blot, qRT-PCR, and immunofluorescence. The role of IL13RA2 in haemangioma-derived endothelial cells (HemECs) was determined following knockdown or overexpression of IL13RA2 using CCK-8, colony formation, apoptosis, wound healing, tubule formation, Transwell, and western blot. Results: IL13RA2 expression was upregulated in IH tissues. IL13RA2 overexpression promoted proliferation, migration, and invasion of HemECs and induced glycolysis, which was confirmed with a glycolysis inhibitor. Specifically, IL13RA2 interacted with ß-catenin and activated the Wnt/ß-catenin pathway in HemECs, which were involved in the above-mentioned effects of IL13RA2. Conclusions: These findings revealed that targeting IL13RA2 is a potential therapeutic approach for IH.