Paediatrics and International Child Health最新文献

Background: The aim of the study was to assess the health-related quality of life (HRQOL) and cognitive function in patients with Crigler-Najjar syndrome (CNS) type I and its impact on their lives.

Methods: Twenty-one patients diagnosed with CNS type I aged 1 month to 18 years in the Paediatric Hepatology Unit of Cairo University Children's Hospital were enrolled in this cross-sectional observational study. The patients' health-related quality of life (HRQOL) was assessed using the World Health Organization Quality Of Life BREF questionnaire (WHOQOL-BREF) and the Short Form 36 Health Survey Questionnaire (SF-36). Cognitive function was assessed using the Stanford-Binet Intelligence Scale: Fifth Edition (SB5).

Results: All patients had a history of admission to a neonatal intensive care unit, 17 were managed by phototherapy only and 5 also underwent exchange transfusion. According to the WHOQOL questionnaire, 11 cases (52.4%) had a low QOL score, and 7 of 13 patients had an average score for their total IQ test. Cases with poor compliance to phototherapy had statistically significantly lower QOL scores (p=0.001), while, according to the SF36 survey, cases who received exchange transfusion had statistically significantly higher cognitive function (p=0.03). There was a positive correlation between the neurological effect as a complication of the disease and poor physical QOL.

Conclusion: Paediatric patients with CNS have significantly lower HRQOL, especially physically, psychologically and environmentally. It is recommended that assessment of HRQOL should be a routine part of follow-up in CNS patients. Patients whose HRQOL is affected receive regular psychiatric counselling, social support and rehabilitation.Abbreviations: CNS: Crigler-Najjar syndrome; HRQOL: health-related quality of life; IQ: intelligence quotient; NICU: neonatal intensive care unit; QOL: quality of life; SB5: Stanford-Binet intelligence scale: 5th edition; SF-36: Short Form 36 Health Survey Questionnaire; UDGT: uridine diphosphate glucuronosyl transferase; UGT1A1: uridine 5'-diphosphate glucuronosyltransferase; WHOQOL-BREF: World Health Organization Quality of Life Brief Version.

Background: The World Health Organization recommends the use of a three-tier triage system to recognise a sick child in low- and middle-income countries. The three tiers are based on standardised emergency and priority signs. No studies have evaluated the prevalence or reliable detection of these emergency signs.

Aims: To determine the prevalence of WHO emergency signs and the underlying causes, and to determine whether nurses could reliably detect these signs in children presenting to the emergency department at Port Moresby General Hospital in Papua New Guinea.

Methods: A prospective study measured inter-rater agreement between nurses at triage and a blinded second assessor trained in paediatrics.

Results: The prevalence of emergency signs was 16.7%: 32 of 192 children had these signs at presentation; 18 (9.4%) had severe respiratory distress; 10 (5.2%) had severe dehydration; and 3 (1.6%) had convulsions. There was an acceptable inter-rater agreement between nurses and doctors (Cohen's Kappa score >0.4) for some signs: subcostal recession, intercostal recession, nasal flaring, lethargy, weak volume pulses, convulsions, sunken eyes and a poor conscious state. Obstructed breathing, cyanosis, tracheal tug and cold hands and feet were less commonly detected and had poor inter-rater agreement (Kappa score <0.4).

Conclusions: Effective screening at triage can enable prompt emergency treatment by nurses and can help focus doctors' attention on children who require it most. There is a need for additional training in the identification of some emergency signs.

Abbreviations: CED: children's emergency department; ETAT: emergency triage assessment and treatment; HCC: Hospital Care for Children; PMGH: Port Moresby General Hospital; PNG: Papua New Guinea; WHO: World Health Organization.

A 16-year-old female presented to an outpatient clinic with a 13-year history of recurrent episodes of abdominal pain, vomiting and mild cutaneous swelling, either spontaneously or following minor trauma. The episodes occurred every 1-2 months. There was no family history of a similar complaint or hereditary angio-oedema (HAE). At the age of 16, evaluation confirmed the diagnosis of HAE type II, characterised by low C4 levels and reduced C1 esterase inhibitor function. The patient was prescribed tranexamic acid 1 g twice daily as well as C1 esterase inhibitor used as rescue medication during symptomatic episodes. This case report emphasises the importance of considering a diagnosis of HAE in patients with recurrent, unexplained abdominal pain, even in the absence of a positive family history of HAE.Abbreviations: ANA Antinuclear antibodies; C1-INH C1-inhibitor; CBC Complete blood count; FMF Familial Mediterranean fever; HAE Hereditary angioedema; IBD Inflammatory bowel diseases; SDP Solvent detergent-treated plasma; SLE Lupus erythematosus.

Background: Enteritis is one of the rare systemic manifestations in childhood-onset systemic lupus erythematosus and its diagnosis is very challenging. This is a rare case of an adolescent girl with recurrent non-specific gastro-intestinal symptoms which were later diagnosed to be owing to lupus enteritis, the only presenting manifestation of an active flare.

Case report: A 15-year-old girl was admitted with recurrent episodes of abdominal pain, vomiting and loose stools. She had diffuse abdominal tenderness. Abdominal ultrasonography demonstrated moderate ascites. A contrast-enhanced abdominal computerised tomography scan revealed thickening of the small bowel wall. On colonoscopy, there were rectal erosions, and microscopic examination of the biopsy specimens demonstrated mild inflammation. Non-specific enteritis was diagnosed and she was given antibiotics and supportive care. She was re-admitted 6months later with abdominal pain. An abdominal contrast-enhanced computerised tomography scan revealed thickening of the bowel wall and the target sign and comb sign in the small intestine. The anti-nuclear antibody was positive. Renal biopsy demonstrated grade 2 lupus nephritis. Lupus enteritis was diagnosed and the case satisfied the 2019 EULAR-ACR criteria and SLICC criteria. She was treated with methylprednisolone, cyclophosphamide and hydroxychloroquine. She improved with treatment and has remained asymptomatic during follow-up.

Conclusion: This case emphasises the need for healthcare providers to be alert to the possibility of lupus enteritis. It also highlights the importance of close follow-up of cases who have non-specific gastro-intestinal symptoms. Lupus enteritis should be considered in the differential diagnosis of recurrent non-specific gastro-intestinal symptoms in children, especially adolescents, to ensure timely diagnosis and treatment.Abbreviations: ACR American College of Rheumatology; ANA anti-nuclear antibody; CRP: C-reactive protein; CT: computerised tomography; CECT: contrast-enhanced computerised tomography; EULAR: European League Against Rheumatism; GI: gastro-intestinal; LE: lupus enteritis; SLE systemic lupus erythematosis; SLICC: Systemic Lupus International Collaborating Clinics; SLEDAI: SLE disease activity index.

Introduction: Raised serum bilirubin levels can cause kernicterus, and premature infants are at increased risk owing to metabolic immaturity. The standard treatment for neonatal jaundice is phototherapy, but probiotics alone can reduce the duration of phototherapy and hospitalisation.

Objectives: To determine the effectiveness of phototherapy with and without probiotics for the treatment of indirect hyperbilirubinaemia in preterm neonates.

Patients and methods: The open-labelled randomised controlled trial was conducted from January 2022 to January 2023 in the neonatal unit of the University of Lahore Teaching Hospital, Pakistan. A total of 76 preterm neonates who fulfilled the selection criteria were included and divided into two groups. Both groups received standard phototherapy. In Group B, a probiotic (Saccharomyces boulardii) 125 mg, twice daily, orally (in 5 cc of whichever milk the infant was receiving) was given until discharge from hospital. The primary outcome measurements were the duration of phototherapy and the length of hospitalisation.

Results: The mean (SD) duration of phototherapy was 36.55 (14.25) hours in Group A and 24.61 (9.25) hours in Group B (p <0.05). The mean (SD) duration of hospital stay was 47.36 (16.51) hours in Group A and 33.13 (8.93) hours in Group B (p <0.05).

Conclusion: Oral probiotics (Saccharomyces boulardii) have a significant effect on the duration of phototherapy for neonatal hyperbilirubinaemia, and they decrease the chances of nosocomial infection. Exploration of clinical outcomes by investigating faecal flora and undertaking large randomised controlled trials of various probiotics are needed.

Abbreviations: ABE: acute bilirubin encephalopathy; CNS: central nervous system; GA: gestational age; IVIG: intravenous immunoglobulin; KSD: kernicterus; NNU: neonatal unit; RCT: randomised controlled trial; S. boulardii: Saccharomyces boulardii.

Thiamine (vitamin B₁) is available in common foods such as the outer husk of rice and is necessary for normal cardiovascular, neurological and metabolic processes. Thiamine deficiency is common in many parts of Asia and Africa, affecting up to a third or more of children and women of child-bearing age. The diagnosis is based on clinical suspicion, especially when noting heart failure in infants, encephalopathy in patients of any age, and peripheral neuropathy in older children and adults. Blood tests for whole-blood thiamine diphosphate (the quantity of biologically active thiamine present) and erythrocyte transketolase activity (the functional impact of thiamine) are not always readily available in areas where thiamine deficiency is common. Treatment is safe and effective, although dosing guidelines vary widely; 50 mg daily for 5 days is probably effective for treating acute thiamine deficiency disorders, and ongoing adequate thiamine intake is also needed. Prevention efforts depend on local and regional circumstances, including dietary diversification, food fortification, and/or supplementation of children and women at risk.Abbreviations: HIC: high-income countries; LMIC: low- and middle-income countries; MRI: magnetic resonance imaging; TDD: thiamine deficiency disorders.

Scurvy, a condition caused by vitamin C deficiency, is rare, especially in high-income countries. Symptoms of scurvy are typically characterised by dermatological disorders such as poor wound healing and tooth loss, but there is not usually cardiac involvement. A case of reversible pulmonary hypertension and right-sided heart failure owing to scurvy in a 7-year-old boy with autism spectrum disorder is reported. He had a very restricted diet and presented with polyarthralgia, gingival hyperplasia with ecchymosis, and fatigue. His condition, including pulmonary hypertension and right-sided heart failure, completely resolved with vitamin C supplementation. Paediatricians should have a high index of suspicion for scurvy in children with nutritional selectivity and be aware that it can manifest with cardiac symptoms. Scurvy may be life-threatening if not treated, but the symptoms can improve rapidly with vitamin C supplementation.