Paediatrics and International Child Health最新文献

Background: Wilson disease is an autosomal recessive disorder owing to defective copper metabolism which causes abnormal accumulation of copper and damage to the liver, brain, kidneys and other organs.

Aim: To describe the clinical features, laboratory investigations and outcome of Wilson disease in children.

Methods: A retrospective observational study was conducted in the paediatric department of a tertiary- care hospital in South India by reviewing medical records between January 2018 and March 2023. The diagnosis of Wilson disease was confirmed by the presence of low serum ceruloplasmin and/or high urine copper excretion in combination with clinical and ophthalmological features.

Results: A total of 32 cases were analysed. The mean (SD) age at presentation was 110 (36) months with a M:F ratio of 1.6:1. Isolated hepatic involvement was seen in 19 (60%) patients while 13 (40%) patients had a neurological presentation, either as an isolated entity or in combination with hepatic manifestations. Low serum ceruloplasmin levels were detected in 31 (96%) patients. Urine copper levels were elevated in all patients. Twenty-one patients were commenced on D penicillamine while 11 patients were treated with a combination chelation therapy with zinc. Eighteen patients (56%) were on regular follow-up.

Conclusion: The clinical presentation of Wilson disease in children is diverse, varying from the more common hepatic or neurological manifestations to the less common atypical forms of the disease. Diagnosis is based on clinical and ophthalmological features in combination with biochemical abnormalities in the form of low ceruloplasmin and high urinary copper. The majority of patients can be medically managed with chelation therapy.

Objectives: Antibiotic use is increasing in low- and middle-income countries (LMIC); however, few studies have examined the rates of use in a population. The use of antibiotics for liveborn infants in LMIC was examined.

Design: The study, a planned prospective, observational secondary analysis of the A-PLUS randomised controlled trial of azithromycin, was conducted in Global Network sites in seven countries: Bangladesh, Pakistan, India (two sites), Kenya, Zambia, the Democratic Republic of Congo and Guatemala. The analyses included liveborn infants of women planning a vaginal delivery who were enrolled in the A-PLUS trial.

Methods: Data were collected on liveborn infants related to non-study antibiotic use in two time-periods: (i) after delivery while in the facility, and (ii) after discharge until 42 days post-partum. Antibiotic use was also examined in preterm and term infants. The most commonly used antibiotics were classified into three groups: penicillins, cephalosporins and aminoglycosides. Antibiotics used in <1% of infants are not presented.

Results: Of the 29,354 eligible infants in the study, 2224 (7.6%, 95% CI 7.3-7.9) received non-study antibiotics in the facility after delivery, and 3847 (13.1%, 95% CI 12.7-13.5) received non-study antibiotics after facility discharge until Day 42. In the facility, antibiotics were given to newborns more frequently in sites in Asia and less frequently in sites in Africa and Guatemala. Similarly, after facility discharge, infants were more likely to receive antibiotics in the Asian sites and less so in the African sites and Guatemala. In the facilities, antibiotics were used predominately for prophylaxis (70.7%) but after facility discharge antibiotics were given more often for treatment (56.8%). Preterm infants received more non-study antibiotics than term infants. The antibiotics used varied substantially by time-period and site but, in general, penicillins, cephalosporins and aminoglycosides were the antibiotic categories used more frequently.

Conclusions: Across the Global Network sites, which represent a range of LMIC, nearly 8% of infants received non-study antibiotics more often for prophylaxis, with 13% of infants receiving non-study antibiotics following hospital discharge. With concerns about increasing antimicrobial resistance worldwide, further attention should be given to appropriate antibiotic use.

Individuals with autism spectrum disorder (ASD) often exhibit limited food preferences and sensory sensitivity. Co-existing food allergies in this population can further limit their already restricted diets, increasing the risk of nutritional deficiencies. Two children with ASD and food allergies presented with non-specific symptoms and were found to have hypocalcaemia secondary to severe vitamin D deficiency. The report highlights the importance of a greater degree of suspicion of vitamin D deficiency in children with co-existing ASD and food allergies. Non-specific symptoms related to hypocalcaemia can be difficult to evaluate in non-verbal patients. A thorough dietary history is an essential part of the care of children with ASD. It is proposed that limited diets should be screened for common nutritional deficiencies.

Background: Vitamin B₁₂ and folate are essential micronutrients, a deficiency of which causes anaemia, poor growth and an increased risk of infections, along with irreversible neurological damage to the developing brain in children.

Methods: A hospital-based prospective observational study was conducted in 100 children with severe acute malnutrition (SAM) aged 6-59 months admitted to a tertiary-care facility in northern India from July 2021 to June 2022. A structured proforma was used to record socio-demographic information, a detailed clinical history, results of general and systemic physical examination and a detailed anthropometric assessment. Serum folate and vitamin B₁₂ were estimated by electrochemiluminescence.

Results: The mean age of the children was 24.18 months, and 64.0% were aged 6-12 months. The male-to-female ratio was 1.08:1. Anaemia was present in 87.0% of the children, and it was severe in 35% of them. There was serum vitamin B₁₂ and folate deficiency in 61.0% and 19.0%, respectively. A deficiency of vitamin B₁₂ was significantly associated with delayed developmental milestones in all domains, a mid-upper-arm circumference of <11.5 cm, severe anaemia, a low platelet count and folate deficiency, and a folate deficiency was significantly associated with older age, delayed developmental milestones in all domains, severe anaemia, a low platelet count and vitamin B₁₂ deficiency.

Conclusion: Vitamin B₁₂ deficiency is highly prevalent in children aged 6-59 months with SAM, but the prevalence of folate deficiency is much lower. Apart from iron and folic acid supplementation, government programmes should consider vitamin B₁₂ supplementation for children aged 6-59 months.

Background: Despite ample sunshine, vitamin D deficiency continues to be prevalent in the Middle East. This pilot study aimed to identify the rate of vitamin D deficiency at a tertiary hospital in Abu Dhabi and to identify the associated risk factors in children and adolescents.

Methodology: A retrospective observational study was conducted using electronic medical records of paediatric patients who underwent 25-hydroxyvitamin D testing at Sheikh Shakhbout Medical City, Abu Dhabi between 1 January 2020 and 31 December 2021. Data on age, gender, ethnicity, weight, body mass index and other potential risk factors for vitamin D deficiency in children were recorded. Patients who were already receiving treatment for vitamin D deficiency were excluded. The collected data were analysed using standard statistical methods.

Results: Of 26,818 patients under 18 years of age who attended the outpatient clinic, 1519 underwent 25-hydroxyvitamin D testing; 51% were male (n = 755). After applying the exclusion criteria, 1311 participants were included, 755 (58%) of whom had vitamin D concentrations of ≤50 nmol/L. Vitamin D deficiency was more common in children aged ≥10 years (69%) than in those <10 years of age (53%) (p < 0.0001). The highest prevalence of vitamin D deficiency was in those older than 16 years (86%). More females (63%, n = 407) than males (52%, n = 348) were identified as vitamin D-deficient (p = 0.0001). Vitamin D deficiency was more commonly identified during summer and autumn (59%) than in winter and spring (44%, p < 0.00001).

Conclusion: Vitamin D deficiency is prevalent in children seeking medical care in the UAE, especially in girls, older children and adolescents, and during the summer and autumn. Paediatricians should have a low screening threshold for hypovitaminosis D, or widespread supplementation should be considered.

Juvenile dermatomyositis (JDM) is an auto-immune disease characterised by muscle weakness and typical skin findings. Although peri-orbital oedema and facial swelling are compatible cutaneous findings in JDM, they are extremely rare. A 7-year-old boy who presented with peri-orbital oedema and facial swelling without muscle weakness is reported. In addition, he had cholestasis and marked cytopenia, which are uncommon in JDM, and malignancy and metabolic disorders were primarily considered in the aetiology. He had no musculoskeletal complaints other than elevated muscle enzymes on presentation but developed muscle weakness during follow-up, and a muscle biopsy was compatible with inflammatory myopathy. He responded favourably to conventional treatment and there were no physical limitations or skin findings by the 14th month of follow-up. Although patients presenting with typical clinical features are easy to diagnose, atypical skin findings are challenging for the clinician. In the presence of atypical skin and clinical findings in addition to muscle enzyme elevation, JDM should be considered in the differential diagnosis.Abbreviations: AHCE: asymptomatic hyper-CKemia; AST: aspartate aminotransferase; C: complement; CK: creatine kinase; IVIG: intravenous immunoglobulin; IIM: idiopathic inflammatory myopathy; JDM: juvenile dermatomyositis; LDH: lactate dehydrogenase; MAA: myositis-associated antibodies; MDA5: melanoma differentiation-associated gene 5; MRC: Medical Research Council; MRI: magnetic resonance imaging; MSA: myositis-specific antibodies; MTX: methotrexate NXP2: nuclear matrix protein 2; STIR: short tau inversion recovery; US: ultrasound.

Background: Lactate is a by-product of thiamine-deficient cellular metabolism, and hyperlactataemia can indicate severe illness. However, little is known about the clinical significance of hyperlactataemia in thiamine deficiency disorders.

Aim: To describe the relationship between whole-blood lactate level and thiamine-responsive disorders (TRDs) in children with signs/symptoms of thiamine deficiency in a high-risk region.

Methods: This is a secondary analysis of data from the Lao Thiamine study, a prospective cohort study which enrolled hospitalised infants and children (aged 21 days to <18 months) who had at least one sign or symptom suggestive of thiamine deficiency in Lao PDR. Therapeutic thiamine was administered, and clinical evaluations were completed at several time-points over the next 72 h. Three paediatricians reviewed individual case reports to evaluate clinical response to thiamine and assigned TRD status. Data from 402 children were analysed by logistic regression and predictive modelling to examine the relationship between hyperlactataemia and TRDs.

Results: Baseline hyperlactataemia (lactate >4.0 mmol/L) was associated with an increased odds of clinical improvement after thiamine administration [OR (95% CI) 2.32 (1.28-4.45), p = 0.007]. Baseline hyperlactataemia was a significant predictor of thiamine deficiency (thiamine diphosphate <40 nmol/L) [area under the receiver operating curve (95% CI) 0.76 (0.67-0.84), p < 0.001], and increased odds of mortality [OR (95% CI) 3.51 (1.38-8.94), p = 0.009].

Conclusions: In children with signs/symptoms of thiamine deficiency, hyperlactataemia is associated with a favourable clinical response to thiamine, biochemical thiamine deficiency, and increased odds of mortality. Lactate may be useful in identifying children who might benefit from therapeutic thiamine.

Trichobezoars are conglomerates of hair within the gastro-intestinal tract, commonly detected in the stomach, and they can present with the Rapunzel syndrome. Isolated small-bowel trichobezoars are extremely rare. Three female patients presented with abdominal pain and bilious vomiting, and underwent various imaging examinations. Two were diagnosed with small-bowel trichobezoars with intestinal obstruction and one with intestinal obstruction only. All three underwent surgery. Two underwent laparoscopic exploration and one underwent a laparotomy. One and two patients had isolated small-bowel trichobezoars in the ileum and jejunum, respectively. Two patients were followed up by a psychiatrist, and all recovered well without recurrence. These three cases emphasise the importance of a comprehensive medical history and imaging in patients with small-bowel obstruction to determine the possibility of bezoars.

Background: Low birthweight (LBW) is when an infant is born too soon or too small, and it affects one in seven infants in low- and middle-income countries. LBW has a significant impact on short-term morbidity and mortality, and it impairs long-term health and human capital. Antenatal microbial and inflammatory exposure may contribute to LBW.

Methods: Ovid-Medline, Embase and Cochrane databases were searched for English-language articles evaluating inflammatory, microbial or infective causes of LBW, small-for-gestational age, intra-uterine growth restriction or prematurity. Inclusion criteria were human studies including published data; conference abstracts and grey literature were excluded. A narrative synthesis of the literature was conducted.

Results: Local infections may drive the underlying causes of LBW: for example, vaginitis and placental infection are associated with a greater risk of prematurity. Distal infection and inflammatory pathways are also associated with LBW, with an association between periodontitis and preterm delivery and environmental enteric dysfunction and reduced intra-uterine growth. Systemic maternal infections such as malaria and HIV are associated with LBW, even when infants are exposed to HIV but not infected. This latter association may be driven by chronic inflammation, co-infections and socio-economic confounders. Antimicrobial prophylaxis against other bacteria in pregnancy has shown minimal impact in most trials, though positive effects on birthweight have been found in some settings with a high infectious disease burden.

Conclusion: Maternal inflammatory and infective processes underlie LBW, and provide treatable pathways for interventions. However, an improved understanding of the mechanisms and pathways underlying LBW is needed, given the impact of LBW on life-course.

Abbreviations: ESR: erythrocyte sedimentation rate; Hb: haemoglobin; HSP: Henoch-Schönlein purpura; WCC: white-cell count.