Journal of paediatrics and child health最新文献

Aim: As herpes simplex virus (HSV) in infancy is not a mandatory notifiable condition in Australia, completeness of ascertainment by the Australian Paediatric Surveillance Unit (APSU) has been difficult to evaluate to date. We evaluated case capture in Queensland (QLD) and Western Australia (WA) using statewide laboratory and clinical data and complementary surveillance data collected via the APSU.

Methods: HSV polymerase chain reaction positive results in infants (0-3 months) from 2007 to 2017 were obtained from statewide public pathology providers in QLD and WA. Clinical data were extracted from patient records and compared to APSU reported cases.

Results: A total of 94 cases of HSV disease in infancy (70 QLD; 24 WA) were identified from laboratory data sets, compared to 36 cases (26 QLD; 10 WA) reported to the APSU. In total there was 102 unique cases identified; 28 cases were common to both data sets (seven skin eye mouth (SEM) disease, 13 central nervous system (CNS) disease and eight disseminated disease). Active surveillance captured 35% (36/102) of cases overall including 74% (14/19) of CNS, 71% (10/14) of disseminated and 17% (12/69) of SEM disease cases, respectively. Surveillance reported cases had a higher case-fatality rate compared to those not reported (14% vs. 3%, P = 0.038). Neurological sequelae at discharge were comparable between the groups.

Conclusion: Active surveillance captures one third of hospitalised HSV cases in QLD and WA, including the majority with severe disease. However, morbidity and mortality remain high. Future studies on HSV will rely on observational studies. Enhanced case ascertainment through combined laboratory and surveillance data is essential for better understanding and improving outcomes.

Aim: Peritonitis is the most common complication of peritoneal dialysis (PD). This study aimed to investigate changes in the incidence, risk factors, microbiology, and clinical outcomes of PD-associated peritonitis in the past decades.

Methods: This was a retrospective study that included children who initiated chronic PD at our institution between 2000 and 2017. The patients were divided into two groups according to the year of initiation: those who initiated PD between 2000 and 2008 and those who initiated PD between 2009 and 2017. The incidence and characteristics of peritonitis were compared between the groups.

Results: A total of 184 patients with a median age of 10.2 years were included in this study. Of the patients, 92 experienced 210 episodes of peritonitis. The incidence rate of peritonitis decreased from 0.35 to 0.21 episodes/patient year during the study period (P = 0.001). During the 2000-2008 period, the 2-year peritonitis-free survival rate was significantly lower for patients under 2 years of age than for the other age groups (P = 0.004), whereas this was not observed during the 2009-2017 period. The multivariable Cox proportional hazard model showed that the <2 years age group had a significantly higher risk of developing peritonitis in the 2000-2008 period. However, this was not evident in the 2009-2017 period.

Conclusions: The incidence of PD-associated peritonitis decreased, particularly in children under 2 years of age. Thus, younger age may not be a risk factor for PD-associated peritonitis.

Aim: To evaluate the methodological quality of studies that analysed the relationship between accessibility to emergency services and infant mortality.

Methods: A systematic review with meta-analysis, registered on the international prospective register of systematic reviews (PROSPERO) platform under code CRD42021279854. Medline/Pubmed, Embase, SciElo, Lilacs, Scopus and web of science electronic databases were searched between November 2021 and May 2024, without language or publication time restriction. We included observational studies that compared the infant mortality outcome with the different distances travelled or travel time to health services in a paediatric emergency. Thus, we excluded studies with primary outcomes present in the pre- and perinatal periods, as well as distances or travel time to obstetric emergency units. We used the grade to assess the methodological quality of the studies and the Newcastle-Ottawa scale for the risk of bias, in addition to performing a meta-analysis.

Results: The evidence quality on infant mortality was moderate for four studies and low for three studies. The meta-analysis showed that children who travelled more than 5 km to the emergency service had a 28% increase in the chance of dying (P = 0.002), as well as those travelling for more than 40 min increased by 45% (P < 0.001).

Conclusions: There was a relationship between the increase in geographic accessibility distance and travel time with the increase in infant mortality. However, the studies still showed moderate to low methodological quality.

Aim: Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disease characterised by recurrent episodes of fever and polyserositis. Sacroiliac joint involvement is rare in FMF patients. The purpose of this study was to evaluate the demographic, clinical, laboratory and imaging findings of patients with FMF who developed sacroiliitis.

Methods: The files of paediatric patients aged 0-18 years who were followed up with a diagnosis of FMF were retrospectively reviewed. FMF patients with evidence of sacroiliitis on magnetic resonance imaging (MRI) were included in the study.

Results: Among 1062 FMF patients, 22 (12 males; median age 8.5) (2.1%) of them were found to have sacroiliitis. FMF was diagnosed before sacroiliitis in nine (40.9%) patients and after in 13 (59.1%) patients. The most common symptom in patients with sacroiliitis was low back pain (n = 21, 95.5%). In MEFV gene analysis, M694V was found in 16 (72.7%) patients and was the most common mutation. MRI showed evidence of sacroiliitis in all patients. All patients were using colchicine. Patients with FMF-associated sacroiliitis, remission was achieved with non-steroidal anti-inflammatory drugs in 12 (54.5%), conventional disease-modifying antirheumatic drugs in six (27.3%) and tumour necrosis factor inhibitor treatment in four (31.8%). Four (31.8%) patients experienced sacroiliitis when colchicine incompatible and four (31.8%) patients experienced sacroiliitis while using biologic agents for colchicine-resistant FMF.

Conclusions: FMF-associated sacroiliitis should be considered especially in patients with M694V mutation if they have symptoms such as low back pain. Colchicine-resistant FMF patients should be evaluated for sacroiliitis symptoms at each visit.

Aim: Hypovitaminosis A is a leading cause of preventable childhood blindness, especially in developing nations. Vitamin A is a fat-soluble essential micronutrient that serves vital functions in the visual system and in regulating bone resorption. We report on a series of four children with mixed nutritional and compressive optic neuropathy and provide a review of the literature.

Methods: A retrospective observational study of four males (ages 9-12), three with autism spectrum disorder who presented with loss of vision and multiple vitamin deficiencies including hypovitaminosis A.

Results: Patients presented with unexplained visual loss or a change in visual behaviour. All patients had severely restricted diet comprising of predominantly carbohydrates. Two of the four cases demonstrated optic nerve pallor at initial presentation with marked optic atrophy developing in all patients over time. Electrophysiology available in two patients demonstrated optic nerve dysfunction with preserved retinal function. Extensive investigations revealed profound deficiency in multiple vitamins including vitamin A (<0.1-0.2 μmol/L, normal = 0.9-1.7 μmol/L). Three patients also had low vitamin B12 (90-111 pmol/L, normal = 170-800 pmol/L) with normal folate. All four cases had radiological evidence of skull base thickening indicative of low vitamin A. Genetic testing did not find any relevant pathogenic variants.

Conclusions: Hypovitaminosis A is a crucial form of nutritional deprivation that results in significant visual loss with potential hyperostosis and optic nerve compression exacerbating nutritional optic neuropathy. Additional micronutrient deficiencies usually co-exist and may contribute. Extra vigilance in vitamin replacement is required of clinicians with patients with autism who have restricted diets.