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J Paediatr Child Health [JOURNAL]

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Office Hours Versus Non-Office-Hours Admissions to the Paediatric Intensive Care Unit: A Cohort Study on the Impact of Illness Severity on Length of Stay and Mortality.

Pancharoen T, Stewart P, Sujjavorakul K

J Paediatr Child Health · 2026 Apr · PMID 41610027 · Publisher ↗

AIM: Paediatric intensive care unit (PICU) length of stay (LOS) significantly impacts healthcare resources and costs, yet the influence of admission timing remains uncertain. We compare PICU LOS in patients transferred f... AIM: Paediatric intensive care unit (PICU) length of stay (LOS) significantly impacts healthcare resources and costs, yet the influence of admission timing remains uncertain. We compare PICU LOS in patients transferred from wards during office hours versus non-office hours and examine predictors of mortality and LOS among survivors. METHODS: This retrospective cohort study analysed data from children under 18 years admitted to the PICU from wards at King Chulalongkorn Memorial Hospital, Bangkok, Thailand (1 July 2018-30 June 2022). Patients from the emergency room, outpatient department, other hospitals or for post-procedural care were excluded. Variables included demographics, clinical features, laboratory parameters, severity scores (Paediatric Index of Mortality 3 [PIM-3] and Paediatric Logistic Organ Dysfunction 2 [PELOD-2]). RESULTS: Of 536 patients, 151 (28%) were admitted during office hours and 385 (72%) during non-office hours, with a median age of 1.8 years (IQR 0.7-7.4). Office-hours admissions had higher severity scores and a longer median LOS (5 days, IQR: 2-14 vs. 3.4 days, IQR: 1.6-7.1; p = 0.001). ICU mortality did not differ significantly (7.3% vs. 3.9%; p = 0.10). Multivariate analysis revealed that admission timing was not independently associated with outcomes; however, higher PELOD-2 independently predicted mortality (adjusted hazard ratio 3.51, 95% CI: 1.37-8.99; p = 0.009), and prolonged LOS among survivors (adjusted coefficient 0.45, 95% CI: 0.08-0.83; p = 0.018). CONCLUSIONS: Longer LOS among office-hour admissions is attributable to greater illness severity rather than admission timing, underscoring the need for early identification and management of high-risk patients. TRIAL REGISTRATION: The protocol was registered on 19 May 2023, in the Thai Clinical Trials Registry (TCTR), ID TCTR 20230519001.

Lung Ultrasound in Bronchopulmonary Dysplasia: A Comparative Diagnostic Study With CT, Chest X-Ray and Pulmonary Function Tests.

Carnazzo SM, Balconara D, Papale M … +4 more , Pecora G, Mulè E, Parisi GF, Leonardi S

J Paediatr Child Health · 2026 Apr · PMID 41601265 · Publisher ↗

BACKGROUND: Chest x-ray (CXR) and computed tomography (CT) are commonly used for diagnosing bronchopulmonary dysplasia (BPD), though each modality has limitations. CXR has low sensitivity for early parenchymal changes, w... BACKGROUND: Chest x-ray (CXR) and computed tomography (CT) are commonly used for diagnosing bronchopulmonary dysplasia (BPD), though each modality has limitations. CXR has low sensitivity for early parenchymal changes, while CT involves radiation exposure. Lung ultrasound (LUS) has emerged as a promising, radiation-free alternative. OBJECTIVE: To assess the diagnostic accuracy of LUS in BPD compared to CT and CXR, and to evaluate correlations between LUS scores and pulmonary function parameters, including spirometry, interrupter resistance technique (RINT), and nocturnal respiratory monitoring (pulse oximetry, polygraphy). METHODS: This was a retrospective, single-center, cross-sectional study conducted over 12 months at San Marco University Hospital (Catania, Italy). Sixty paediatric patients with BPD underwent LUS, CXR and high-resolution CT (HRCT). Pulmonary function tests (spirometry, RINT) and nocturnal monitoring were performed when feasible. Diagnostic performance of LUS was evaluated using receiver operating characteristic (ROC) curves and intraclass correlation coefficient (ICC). Correlations with functional parameters were analysed using Spearman's coefficient. RESULTS: LUS showed good concordance with CT (ICC = 0.78; 95% CI: 0.72-0.85) and higher diagnostic accuracy than CXR (AUC = 0.87 vs. 0.67). LUS was particularly sensitive in detecting moderate parenchymal abnormalities. LUS scores correlated significantly with airway resistance (r = 0.85), FEV (r = -0.65), and oxygen desaturation index (r = 0.50). CONCLUSION: In this study, LUS demonstrated good concordance with CT and outperformed CXR. Its correlation with pulmonary function parameters suggests potential utility in the assessment and monitoring of BPD. Further studies with larger cohorts are needed to validate these findings.

Foreign Concepts in Paediatric Oesophageal Foreign Bodies: A Health Knowledge Study.

Crimi N, Siu JM, Walsh CM … +2 more , Propst EJ, Wolter NE

J Paediatr Child Health · 2026 Apr · PMID 41601260 · Publisher ↗

AIM: Non-food object ingestion and resulting oesophageal foreign body (EFB) impactions are a common problem in children, with potentially severe consequences requiring urgent management. This study aimed to assess public... AIM: Non-food object ingestion and resulting oesophageal foreign body (EFB) impactions are a common problem in children, with potentially severe consequences requiring urgent management. This study aimed to assess public knowledge of paediatric EFBs, including prevention, risks and management to inform future primary prevention efforts: METHODS: Members of the public were surveyed between January and May 2024. The pretested, electronic survey was distributed via social media and printed notices. Collected data included demographics, preventative household safety measures, recognition, perceptions of object danger and knowledge of EFB management. Responses were analysed using descriptive statistics. RESULTS: Overall, 516 respondents completed the survey, including 444 (86%) with children in their home or workplace. Rated on a Likert-type scale from 1 (not dangerous) to 10 (most dangerous), button batteries were perceived as most dangerous EFBs (mean ± standard deviation [SD]: 8.7 ± 2.1), followed by high-powered magnets (8.3 ± 2.4). However, only 33% of participants with children at home reported storing dangerous objects away, most commonly sharp objects (94%), small toys (72%) and coins (69%). Despite being perceived as most dangerous, only 59% of participants stored button batteries and 34% stored high-powered magnets away from children. Upon survey completion, 84% of respondents indicated they would like to learn more about EFBs in children. CONCLUSIONS: Paediatric EFBs represent a significant public health concern, and this study highlights substantial gaps in public knowledge regarding safety and preventative measures. By focusing public health initiatives on addressing these knowledge gaps, there is potential to significantly reduce the prevalence and impact of ingestion incidents in children.

An Oral Human Papillomavirus Lesion in a Neonate: A Clinical Case Report.

Vieira SS, Belo C, Duarte H … +2 more , Garcia M, Silva JS

J Paediatr Child Health · 2026 Apr · PMID 41582557 · Publisher ↗

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Allied Health Provision of Therapy in the Neonatal Units in New Zealand: A Cross-Sectional Survey.

Atkins D, Kanagasabai P, Battin M … +2 more , Desha L, Graham F

J Paediatr Child Health · 2026 Apr · PMID 41582433 · Publisher ↗

AIMS: To benchmark early rehabilitative intervention by occupational therapists, physiotherapists and speech and language therapists (Neonatal Neurodevelopmental Therapists, NNTs) in Neonatal Intensive Care Units (NICU)... AIMS: To benchmark early rehabilitative intervention by occupational therapists, physiotherapists and speech and language therapists (Neonatal Neurodevelopmental Therapists, NNTs) in Neonatal Intensive Care Units (NICU) and Special Care Baby Units (SCBU) in Aotearoa New Zealand (NZ). Benchmarking included content and amount of service provision of neurodevelopmental therapy, and respondent views on workforce priorities. METHODS: An online cross-sectional survey was conducted with clinical directors of NICU/SCBU and NNTs recruited via professional networks. The survey included multiple-choice and open-ended questions. Descriptive statistics were used to analyse quantitative responses and thematic analysis for qualitative data. RESULTS: Completed surveys (n = 64) were received from 17 clinical directors (85% of all clinical directors in New Zealand) and 47 NNTs. Early rehabilitation intervention delivered by NNTs is substantially below international recommended levels in all units. Only 5/17 (29%) of units employed dedicated NNTs. Within their limited time, NNT's activity included assessment (100%), intervention (82%), parent education and support (92.3%) and staff education and support (82%). Few NNTs (36.2%) had specialist training with this population. Themes in workforce priorities were the desire for continuity of care of infants by NNTs, a preference for dedicated NNT and greater access to training. CONCLUSIONS: The limited availability of NNT in NICU/SCBU is likely to compromise the amount of early rehabilitation intervention and reach to neonates and their families, particularly more vulnerable populations such as Māori and Pacific. Substantial scale up of service provision and establishment of a national network of NNT are proposed to advance training, continuity and equity of care.

The Crystal Clue: Miliaria Crystallina in the Wake of Neonatal Hypernatremic Dehydration.

Babu D, Shetty P, Martis J … +2 more , Fernandes M, Shetty A

J Paediatr Child Health · 2026 Mar · PMID 41582427 · Publisher ↗

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Paediatric Sport-Related Concussion and Hospitalisation in Australia.

Davis GA, Babl FE, Rausa VC … +2 more , Davies K, Anderson V

J Paediatr Child Health · 2026 Feb · PMID 41578759 · Publisher ↗

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Analysis of OTC Gene Variations in Early-Onset Ornithine Transcarbamylase Deficiency: A Case Report and Review of the Literature.

Zhang X, Wu W, Wang C … +3 more , Han J, Yan X, Wang F

J Paediatr Child Health · 2026 Mar · PMID 41578699 · Publisher ↗

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Multi-Strain Probiotic and Common Infections in Early Childhood Education Settings: A Randomised Controlled Trial.

Ahmad HH, Peck B, Terry D

J Paediatr Child Health · 2026 Mar · PMID 41574644 · Full text

OBJECTIVE: This randomised controlled trial aimed to evaluate the effect of a multi-strain probiotic on the incidence of common infections among children in early childhood education (ECE) settings. METHODS: Prospective,... OBJECTIVE: This randomised controlled trial aimed to evaluate the effect of a multi-strain probiotic on the incidence of common infections among children in early childhood education (ECE) settings. METHODS: Prospective, randomised, double-blind, placebo-controlled trial was conducted using a multi-strain (mixture of 5 strains) probiotic at a daily dose of 10 billion active fluorescent units. Participating children were randomly assigned to either the intervention or control group. The supplementation period lasted 24 weeks, during which weekly questionnaires were administered to track the incidence of infections. RESULTS: A total of 118 children were enrolled in the trial. An intention-to-treat analysis revealed a 62% reduction in the incidence of gastrointestinal tract infections (GITIs) (incidence rate ratio: 1.62, p = 0.055) between the placebo and probiotic groups in the last 16 weeks of the study. Notably, it took up to 8 weeks for probiotics to exhibit a significant protective effect. However, probiotic supplementation had no impact on respiratory tract infections (RTIs). Additionally, probiotic use led to an estimated cost saving of AU$4748 in relation to reducing GITIs for 16 weeks after the protective effect was achieved. CONCLUSION: Multi-strain probiotic has the potential to reduce the risk of GITIs among children in ECE settings, though no beneficial effect was observed on RTIs despite recording over 450 infections. Larger, multi-arm trials are recommended to further investigate this area. TRIAL REGISTRATION: ClinicalTrials.gov identifier: ACTRN12622000153718.

Management and Outcomes of Paediatric Bone and Joint Infections in a Regional Australian Hospital: A 10-Year Retrospective Study.

Johnston N, Bhatia R, Butters C

J Paediatr Child Health · 2026 Mar · PMID 41572414 · Full text

AIM: To evaluate clinical features, management, and outcomes of paediatric bone and joint infection (BJI) in a regional Australian hospital and assess weight-based oral antibiotic prescribing. METHODS: We conducted a ret... AIM: To evaluate clinical features, management, and outcomes of paediatric bone and joint infection (BJI) in a regional Australian hospital and assess weight-based oral antibiotic prescribing. METHODS: We conducted a retrospective study of 171 children aged 0-18 years admitted with septic arthritis and/or osteomyelitis between 2011 and 2021. Cases were identified using ICD-10-AM codes, and data on clinical presentation, microbiology and treatment were extracted from medical records. Oral antibiotic doses were assessed against international evidence-based guidelines. RESULTS: A total of 171 children were included (median age 27 months); 59.6% were aged ≤ 5 years, and 13.5% identified as Aboriginal or Torres Strait Islander. Staphylococcus aureus was the most frequently identified pathogen overall (53/108, 49.1%), and Kingella kingae in children < 5 years of age (20/57, 35.1%). Severe disease occurred in 29.8%. Oral antibiotic doses were below international guideline recommendations in 43.3% of cases, mostly with amoxicillin-clavulanate and cephalexin. Relapse (4.1%) and long-term sequelae (6.1%) were infrequent. CONCLUSIONS: Paediatric BJI mostly occurred in young and in Aboriginal and Torres Strait Islander children. Oral antibiotic weight-based dosing was often lower than international guideline recommendations for BJI. These findings highlight the need for standardised antibiotic dosing in BJI and further studies to optimise dosing in children.

Antimicrobial Resistance and Infant Mortality in Sri Lanka: A Retrospective Cohort Study.

Gunaratna GPS, Harrison ML, Dickson BFR … +6 more , Sathanandaraja R, Perera TMR, Chandrasiri NS, Sutharson A, Baker J, Williams PCM

J Paediatr Child Health · 2026 Mar · PMID 41568588 · Full text

OBJECTIVE: Sepsis is a major cause of mortality among children, with the highest burden evident in neonates and young infants, particularly, in resource-constrained healthcare settings. Despite this burden, there are ins... OBJECTIVE: Sepsis is a major cause of mortality among children, with the highest burden evident in neonates and young infants, particularly, in resource-constrained healthcare settings. Despite this burden, there are insufficient published data to delineate the epidemiology of neonatal sepsis from many of these settings. We aimed to address this research gap by evaluating the epidemiology of sepsis in neonates and young infants in Sri Lanka, a populous country in Southeast Asia, and to evaluate the efficacy of currently-recommended empiric antibiotic regimens to treat these infections in the context of evolving antimicrobial resistance. DESIGN: We evaluated the pathogens (including susceptibility profiles) responsible for infections in neonates and young infants over a 7-year period alongside clinical outcomes (2015-2021). SETTING: A 1100 bed urban tertiary hospital in Colombo, Sri Lanka. PATIENTS: Neonates and young infants (aged 0 to ≤ 180 days). MAIN OUTCOME MEASURES: Blood culture-positive pathogen profiles, antibiotic susceptibility against empiric antibiotic regimens and mortality. RESULTS: We identified 231 neonates and young infants with clinically significant blood cultures incorporating 251 pathogens over the study period, of whom 22 died. Where gestational data were available, most babies with culture-positive sepsis were premature (71%, 65/91), born at a median gestational age of 32 weeks (interquartile range [IQR] 27-38 weeks). Gram-negative bacteria predominated as a cause of culture-positive infections (66%, 166/251), including in 86% of neonates and young infants who died (19/22). There were high rates of non-susceptibility to first- and second-line antibiotics currently recommended to treat neonatal sepsis. CONCLUSIONS: There is a high burden of antibiotic-resistant gram-negative infections in neonates and young infants in Sri Lanka, highlighting an urgent need to prioritise the development of new antimicrobial regimens to treat neonatal infections.

Hyperpigmentation in an Infant due to Vitamin B12 Deficiency: Case Report.

Barrantes EV, Medina LZ, Arredondo-Nontol M … +1 more , Gomez CM

J Paediatr Child Health · 2026 Mar · PMID 41566957 · Publisher ↗

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Empathological: Understanding the Bounds of Empathy in Paediatric Care.

Preisz A

J Paediatr Child Health · 2026 Mar · PMID 41559485 · Publisher ↗

Empathy abounds in paediatrics and is deemed a valuable trait that enhances child and family care. Concurrently, research indicates there has been a decline in paediatric training applications, both medical and nursing,... Empathy abounds in paediatrics and is deemed a valuable trait that enhances child and family care. Concurrently, research indicates there has been a decline in paediatric training applications, both medical and nursing, and there are challenges to workforce retention related to empathy exhaustion. While the cause is unclear and likely multifactorial, there may be a correlation with empathy levels, requiring analysis by policy makers and governing bodies. Empathy is a disposition, generally understood as cognitive or affective, and I propose here that clinician empathy exists on a continuum. At the affective extreme, there may be an intense emotional transference or pathological empathy response-I use the portmanteau 'empathological' to describe this. Further, that this response may be associated with negative sequelae, and compromise child and family care when complexity, uncertainty, and tragedy co-occur. Identifying the appropriate empathy dose and duration is therefore key to mitigate harm to all parties. Developing strategies to harness empathy by judiciously employing reason and moral theory could be protective. To help understand empathy bounds and balance, I outline the moral foundations of clinical empathy and weigh its benefits and burdens in clinical settings. I conclude that reasoned empathy, which draws on specific elements of Paul Bloom's analysis of rational compassion, allows for engaging empathetically with children and families without paralysing moral action by overly deeply relating to tragic circumstances. Attending to a form of reasoned empathy could ultimately inform healthcare staff selection and training to sustain a healthier paediatric workforce, and lead to better care for sick children.

Clinical Parameters Predicting Obstructive Sleep Apnoea Syndrome and Its Severity in Children Referred to a Sleep Laboratory in Myanmar.

Aye Z, May WL, Win S

J Paediatr Child Health · 2026 Mar · PMID 41553840 · Publisher ↗

BACKGROUND: Paediatrics obstructive sleep apnoea syndrome (OSAS) is often underdiagnosed by medical practitioners due to its subtle and nonspecific symptoms in children. This study aimed to determine the prevalence of OS... BACKGROUND: Paediatrics obstructive sleep apnoea syndrome (OSAS) is often underdiagnosed by medical practitioners due to its subtle and nonspecific symptoms in children. This study aimed to determine the prevalence of OSAS and identify clinical predictors of its occurrence and severity. METHODS: Medical records of children (2-18 years) who underwent polysomnography (PSG) at a sleep laboratory in Myanmar during 2012-2023 were reviewed retrospectively. Children with incomplete PSG data, a prior PSG record in the same sleep laboratory, or a history of adenotonsillectomy were excluded from the study. RESULTS: This study included 349 children with mean ± SD age 6.8 ± 2.8 year. OSAS was identified in 82.2% (289/349). Boys, overweight/obesity and tonsil grade-4 were independently associated with OSAS and boys, overweight/obesity, lower resting SpO, witnessed apnoea, abnormal daytime sleepiness and tonsil grade-4 were independently associated with severe OSAS on multivariable logistic regression. Among 2-8-year-old children, there was a significant mild positive correlation between AHI and tonsil grades (r = 0.29, p < 0.001) and between AHI and BMI (r = 0.21, p < 0.001). Among 9-18-year-old children, there is a moderate positive correlation between AHI and BMI (r = 0.34, p = 0.003); however, the correlation between AHI and tonsil grades was not significant r = 0.08 (p = 0.51). CONCLUSION: Male sex, overweight/obesity and tonsil grade-4 can predict OSAS and its severity in children. Lower SpO levels, witnessed apnoea and excessive daytime sleepiness can also predict severe OSAS. Although the degree of obesity is correlated with OSAS severity in both older and younger children, the degree of tonsil grades is correlated with its severity only in younger children.

Fat-Free Mass Predictions From Anthropometrics in South African Prepubertal Children.

White Z, Walsh LM, Pretorius A … +1 more , Wenhold FAM

J Paediatr Child Health · 2026 Mar · PMID 41537676 · Full text

BACKGROUND: South African children face a double burden of malnutrition from undernutrition and rising obesity. Simple, accurate methods to estimate fat-free mass, a key health indicator, are needed, as bioelectrical imp... BACKGROUND: South African children face a double burden of malnutrition from undernutrition and rising obesity. Simple, accurate methods to estimate fat-free mass, a key health indicator, are needed, as bioelectrical impedance analysis is limited by cost, availability and lack of local validation. OBJECTIVES: To develop and validate prediction equations for fat-free mass using simple anthropometric measurements in children aged 6-9 years. METHODS: In this cross-sectional study, anthropometric and bioelectrical impedance data were obtained from 117 children. Bioelectrical impedance-derived fat-free mass was used as reference in multivariable regression models. Four equations were externally validated in 75 Black prepubertal children, using dual-energy X-ray absorptiometry-derived fat-free mass as standard. Relationships, mean differences, and agreement were assessed using Pearson's correlation, independent t-tests and Bland-Altman plots, respectively. RESULTS: Fourteen prediction equations, containing five to nine variables, were developed (R range: 0.88-0.92) in the sample of children (51% Black; 55% boys; 7.9 ± 0.8 years). Four equations were strongly correlated with dual-energy X-ray absorptiometry-derived fat-free mass (r > 0.95; p < 0.001) in the validation sample (8.5 ± 1.3 years), and three yielded estimates with acceptable agreement (mean difference: 0.16-0.94 kg; limit of agreement: ±5 kg). CONCLUSION: Fat-free mass of prepubertal children can be predicted using simple anthropometric measurements, allowing assessment of body composition in low-resource settings.

Persistent Nasal Congestion in the Newborn-Think Congenital Syphilis: A Case Report.

Silcock R, Moloney S, Clark JE … +1 more , Nourse C

J Paediatr Child Health · 2026 Mar · PMID 41527168 · Publisher ↗

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Abdominal Wall Varicosities: A Challenging Clinical Dilemma.

Ghosh U, Sarma MS

J Paediatr Child Health · 2026 Mar · PMID 41518062 · Publisher ↗

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Progress and Variation in Nutrition Care for Preterm Infants in Australasia: Results From the 2024 Australasian Neonatal Dietitians Network Survey.

Cormack B, Oliver C, Anscombe Y … +7 more , Carson G, Allworth S, Gilroy M, Page D, Little H, Alexander T, Australasian Neonatal Dietitians Network (ANDiN)

J Paediatr Child Health · 2026 Mar · PMID 41503953 · Publisher ↗

AIM: To evaluate neonatal nutrition practices in Australia and New Zealand (NZ) in 2024 and compare these with previous surveys, international recommendations and British Dietetic Association workforce standards. The sur... AIM: To evaluate neonatal nutrition practices in Australia and New Zealand (NZ) in 2024 and compare these with previous surveys, international recommendations and British Dietetic Association workforce standards. The survey aimed to investigate progress towards standardisation, variations in practice and priorities for neonatal dietetic service development. METHODS: A two-part online survey was distributed to members of the Australasian Neonatal Dietitians Network (ANDiN) and dietitians working in Australasian neonatal units. Part 1 gathered site-level data; Part 2 focused on individual dietitians' roles. Responses were analysed descriptively and compared with the 2018 ANDiN survey. Dietitian full-time equivalent (FTE) allocations were benchmarked against (BDA) service recommendations. RESULTS: About 39 neonatal units (26% NZ, 74% Australia) and 66 dietitians responded. Growth monitoring was near-universal, with 86% using Fenton 2013 charts and 91% using z-scores. However, 32% transitioned to WHO charts at 40 weeks, earlier than recommended. Parenteral nutrition hang time practices varied significantly. Donor breastmilk was available in 77% of units and probiotics were used in 89%. Only 23% of units met the recommended dietitian FTE and 16% reported ≤ 0.1 FTE. While 61% of dietitians attended ward rounds weekly or more, one-third never attended. Research participation remains low at 21%. CONCLUSIONS: Progress is evident in standardised growth assessment and nutrition practices. However, wide variation remains in feed strategies, parenteral nutrition protocols and workforce capacity. Greater alignment with consensus guidelines and workforce benchmarks is needed. Enhancing neonatal dietitian integration, research engagement and resourcing is critical to supporting equitable, high-quality neonatal nutrition care.

Diagnosis of Paediatric Inborn Errors of Immunity in a MENA Cohort Referred for Recurrent Infections Using a Structured Clinical Algorithm: A Real-Life Cross-Sectional Study.

Kökcü Karadağ Şİ, Topçak AB, Ertürk B … +8 more , Çalışkan N, Bologur H, Yıldırım G, Güngör H, Şahin MK, Erbay MF, Şarman HT, Özçeker D

J Paediatr Child Health · 2026 Mar · PMID 41498369 · Publisher ↗

AIM: To evaluate the diagnostic yield and clinical triage performance of a structured, multistep algorithm in children referred for suspected inborn errors of immunity (IEI) due to recurrent infections. METHODS: This sin... AIM: To evaluate the diagnostic yield and clinical triage performance of a structured, multistep algorithm in children referred for suspected inborn errors of immunity (IEI) due to recurrent infections. METHODS: This single-centre study included 705 children (0-18 years) referred for recurrent infections. All were screened using JMF and/or MENA criteria. Of these, 132 met at least one criterion and underwent stepwise immunologic evaluation, including advanced testing when indicated. RESULTS: Of 705 children referred with recurrent infections, 132 (18.7%) met screening criteria and underwent structured immunologic evaluation. Inborn errors of immunity were diagnosed in 50 patients (7.1%), with a 71% diagnostic confirmation rate. Pathogenic variants were detected in 74%, immunoglobulin abnormalities in 78% and all showed lymphocyte subset disturbances. The most common classifications were antibody deficiencies (32%) and syndromic combined immunodeficiencies (28%). Half received intravenous immunoglobulin, and no mortality occurred during follow-up. CONCLUSION: The structured diagnostic algorithm based on JMF and MENA criteria improved IEI diagnosis and enabled effective prioritisation of children presenting with non-infectious immune phenotypes. This model reduced unnecessary testing, supported efficient allocation of limited resources and facilitated timely diagnosis. The approach offers a practical, cost-effective solution particularly applicable in regions with high consanguinity rates and limited access to advanced immunologic diagnostics.

A Systematic Review of Clinical and Genetic Approaches to VACTERL Association.

Bowden R, Martinez NN

J Paediatr Child Health · 2026 Jan · PMID 41498361 · Publisher ↗

AIM: To systematically review clinical and genetic testing approaches to VACTERL association, a non-random co-occurrence of congenital anomalies involving the vertebrae, anus, cardiac system, trachea-oesophagus, renal sy... AIM: To systematically review clinical and genetic testing approaches to VACTERL association, a non-random co-occurrence of congenital anomalies involving the vertebrae, anus, cardiac system, trachea-oesophagus, renal system, and limbs. The review will examine investigation strategies used in clinical practice and evaluate the diagnostic yield of genetic testing in affected individuals. METHODS: A systematic search of PubMed, MEDLINE, EMBASE, Web of Science, and CINAHL was conducted from database inception to 1 December 2024. Eligible studies included English-language human studies reporting genetic testing in individuals with VACTERL association. Grey literature and studies limited to management were excluded. Risk of bias and certainty of evidence were assessed using Joanna Briggs Institute tools and the Grading of Recommendations Assessment, Development, and Evaluation. RESULTS: A total of 65 articles met inclusion criteria-32 observational studies, 20 case reports, 9 case series, and 4 expert opinions. Findings were tabulated and narratively synthesised. Reported diagnostic yields were 2%-31% for chromosomal microarrays and 5%-22% for whole-exome sequencing. CONCLUSIONS: Definitions of VACTERL and diagnostic approaches vary widely. Limitations of the evidence base include study heterogeneity, reliance on retrospective designs, outdated technologies, and lack of meta-analyses. Prospective studies are needed to develop protocols. In the interim, imaging, complete blood count and film, chromosomal microarray, chromosomal breakage studies, and exome or genome sequencing should be considered for patients with two or more VACTERL features, or selected individuals with an isolated feature. This recommendation is based on the implications of a molecular diagnosis for management. Key diagnostic elements and differential diagnoses are summarised.
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