Archives De Pediatrie最新文献

Congenital central hypoventilation syndrome (CCHS) is an autosomal dominant disease that is caused by heterozygous mutations in the paired-like homeobox 2B gene (PHOX2B). Madani et al. described an abnormally high degree of not only central apnea but also obstructive and mixed apnea in Phox2b^27Ala/+newborn mice. Newborns with CCHS must undergo polysomnography for obstructive respiratory events in order to guide the optimal ventilation strategy if oxygen desaturation, bradycardia, and malaise persist under noninvasive ventilation. Newborns and infants with CCHS must be systematically tested for obstructive apnea, especially in cases of inefficient noninvasive ventilation.

Background

The COVID-19 pandemic caused a global public health problem with high morbidity and mortality rates. In this study, we aimed to evaluate the 25-hydroxyvitamin D (25(OH)D) status of patients presenting to the Pediatrics Department of Gaziantep Maternity and Children's Hospital in the 1-year period after the onset of the COVID-19 pandemic according to ethnicity, age, and gender.

Method

This cross-sectional study included the data of 7640 patients whose 25(OH)D levels were assessed at our hospital between March 2021 and March 2022. Vitamin D levels, age, gender, and the ethnic origin of the patients were retrospectively scanned and recorded from the laboratory results system. Based on the World Health Organization (WHO) classification of vitamin D levels, patients were divided into three groups: <10 ng/mL = vitamin D deficiency; 10–19 ng/mL = vitamin D insufficiency, and 20 ng/mL and over = normal vitamin D status.

Results

The mean age of the 7640 patients who presented to the pediatrics department was 7.47 (±5.3) years. Of these patients, 48 % (3665) were male and 52 % (3975) were female. The mean vitamin D level of girls was 18.1 (±15.2) ng/mL, and of boys it was 20.2 (±15.4) ng/mL, with a statistically significant difference (p < 0.001). In total, 21.2 % (1650) of patients had deficient, 43.3 % (3310) of patients had insufficient, and 35.5 % (2710) of patients had normal 25(OH)D levels. Overall, 21.8 % of the patients (1667) were immigrants, and in this group the deficiency was found to be statistically significantly higher at 27.4 % (n = 456; p < 0.001). There was a low negative correlation between the age of the patients and their 25(OH)D levels (r=−0.35; p < 0.001).

Conclusions

Vitamin D deficiency remains a serious public health problem. Since the most important production source is exposure to the sun, it must be kept in mind that vitamin D should be supported during lockdown pandemic processes.

Background

Prematurity is one of the risk factors for sudden unexpected infant death (SUID), a phenomenon that remains poorly explained.

Materials and methods

The analysis of specific factors associated with SUID among very premature infants (VPI) was performed through a retrospective review of data collected in the French SUID registry from May 2015 to December 2018. The factors associated with SUID among VPI were compared with those observed among full-term infants (FTI). Results are expressed as means (standard deviation [SD]) or medians (interquartile range [IQR)].

Results

During the study period, 719 cases of SUID were included in the registry, 36 (incidence: 0.60 ‰) of which involved VPI (gestational age: 29.2 [2] weeks, 1157 [364]) g] and 313 (0.18 ‰) involved FTI (gestational age: 40 [0.8] weeks, 3298 [452] g). The infants’ postnatal age at the time of death was similar in the two groups: 15.5 (12.2–21.8) vs. 14.5 (7.1–23.4) weeks. We observed low breastfeeding rates and a high proportion of fathers with no occupation or unemployment status among the VPI compared to the FTI group (31% vs. 55 %, p = 0.01 and 32% vs. 13 %, p = 0.05, respectively). Among the VPI, only 52 % were in supine position, and 29 % were lying prone at the time of the SUID (compared to 63 % and 17 %, respectively, in the FTI group).

Conclusion

This study confirms prematurity as a risk factor for SUID with no difference in the SUID-specific risk factors studied except for breastfeeding and socioeconomic status of the fathers. VPI and FTI died at similar chronological ages with a high proportion of infants dying in prone position. These results argue for reinforcement of prevention strategies in cases of prematurity.

Background

Heterozygous familial hypercholesterolemia (HeFH) predisposes to premature cardiovascular diseases. Since 2015, the European Atherosclerosis Society has advocated initiation of statins at 8–10 years of age and a low-density lipoprotein cholesterol (LDL-C) target of <135 mg/dL. Longitudinal data from large databases on pharmacological management of pediatric HeFH are lacking.

Objective

Here, we describe treatment patterns and LDL-C goal attainment in pediatric HeFH using longitudinal real-world data.

Methods

This was a retrospective and prospective multicenter cohort study (2015–2021) of children with HeFH, diagnosed genetically or clinically, aged <18 years, and followed up in the National French Registry of FH (REFERCHOL). Data on the study population as well as treatment patterns and outcomes are summarized as mean±SD.

Results

We analyzed the data of 674 HeFH children (age at last visit: 13.1 ± 3.6 years; 82.0 % ≥10 years; 52.5 % females) who were followed up for a mean of 2.8 ± 3.5 years. Initiation of lipid-lowering therapy was on average at 11.8 ± 3.0 years of age for a duration of 2.5 ± 2.8 years. At the last visit, among patients eligible for treatment (573), 36 % were not treated, 57.1 % received statins alone, 6.4 % statins with ezetimibe, and 0.2 % ezetimibe alone. LDL-C was 266±51 mg/dL before treatment and 147±54 mg/dL at the last visit (−44.7 %) in treated patients. Regarding statins, 3.3 %, 65.1 %, and 31.6 % of patients received high-, moderate-, and low-intensity statins, respectively. Overall, 59 % of children on statin therapy alone and 35.1 % on bitherapy did not achieve the LDL-C goal; fewer patients in the older age group did not reach the treatment goal.

Conclusion

Pediatric patients with FH followed up in specialist lipid clinics in France receive late treatment, undertreatment, or suboptimal treatment and half of them do not reach the therapeutic LDL-C goal. Finding a more efficient framework for linking scientific evidence to clinical practice is needed.

Background

Necrotizing pneumonia (NP) is a serious and rare disease in children. Pediatric data on NP are limited and the impact of the 13-valent pneumococcal conjugate vaccine has been very poorly evaluated.

Patients and methods

We conducted a retrospective study at Toulouse University Hospital between 2008 and 2018. Children who presented with thin-walled cavities in the areas of parenchymal consolidation on imaging were included in the study.

Results

The incidence of NP did not decrease during this period. Bacterial identification occurred in 56% of cases (14/25) and included six cases of Streptococcus pneumoniae, five of Staphylococcus aureus, two of Streptococcus pyogenes, and one of Streptococcus viridans. Streptococcus pneumoniae NP are more frequently associated with empyema/parapneumonic effusion compared to S. aureus NP (p = 0.02). Patients with S. pyogenes NP more often required volume expansion than did S. pneumoniae cases (p = 0.03). When comparing children born before and after implementation of the 13-valent pneumococcal conjugate vaccine, we identified a relative modification of the bacterial epidemiology, with an increase in the proportion of S. pyogenes NP and S. aureus NP and a decrease in the proportion of NP caused by S. pneumoniae.

Conclusion

Future studies are needed to assess the epidemiology of NP in children. Continued surveillance of identified pneumococcal serotypes is essential to document epidemiological changes in the coming years.

Objectives

Despite a significant increase in the prevalence of vegetarianism and veganism in children in France, data on the care pathway of these children are scarce. This study aimed to describe the characteristics of the medical follow-up of vegan/vegetarian children, to evaluate the medical practices, and to analyze the perceptions of parents.

Materials and methods

This was a double cross-sectional survey. One questionnaire was sent to parents of vegetarian/vegan children, and the other to French doctors (pediatricians or general practitioners).

Results

A total of 241 vegetarian families responded to the study and nearly one quarter (n = 67, 28 %) were unsatisfied with the medical follow-up of their child. Parents considered that their child's diet was responsible for refusing a medical consultation in 11 % (n = 27) of cases. In almost one third of cases (n = 70, 29 %), participants declared that the doctor was unaware of their child's diet. Vitamin B₁₂ supplementation was commonly used (n = 195, 81 %), mainly by self-medication, and laboratory testing was performed for 30 % (n = 72) of children. Regarding the questionnaire for doctors, most of the participants (n = 318/501, 63 %) reported having vegetarian/vegan children in their cohort. A few of them (n = 70, 14 %) declared they did not systematically screen for meat and fish consumption during consultations. Doctors caring for vegetarian/vegan children had 27 % correct answers to questions regarding the nutrition guidelines. Overall, 36 % of them (n = 117) systematically referred the child to a specialist.

Conclusion

The medical follow-up of vegetarian/vegan children in France is very heterogeneous. Parents and doctors alike stressed the need to develop reliable sources of knowledge. A systematic screening of the diet and a referral to a specialist could help to improve the management of vegetarian/vegan children.

Aldosterone synthase deficiency (ASD) is a rare autosomal recessive disorder involving isolated aldosterone deficiency without any compromise of other adrenal hormones. This condition manifests mainly in the neonatal period and in infants as a salt wasting syndrome with vomiting and failure to thrive. Due to its potentially life-threatening effects, ASD requires a careful and early diagnosis based on appropriate hormonal investigations in order to initiate adequate management: rehydration as well as salt and fludrocortisone supplementation. Genetic analysis of the CYP11B2 gene will confirm ASD in most cases. We report the case of a newborn with a typical clinical presentation associated with some uncommon phenotypic features (hyperhidrosis, liver injury). Furthermore, our patient carries a new CYP11B2 splicing variant to be added to the approximately 60 pathogenic or likely pathogenic variants already reported.

Background

Persons with achondroplasia develop early obesity, which is a comorbidity associated with other complications. Currently, there are no validated specific predictive equations to estimate resting energy expenditure in achondroplasia.

Methods

We analyzed the influence of body composition on this parameter and determined whether predictive models used for children with standard height are adjusted to achondroplasia. In this cross-sectional study, we measured anthropometric parameters in children with achondroplasia. Fat mass was obtained using the Slaughter skinfold-thickness equation and resting energy expenditure was determined with a Fitmate-Cosmed calorimeter and with predictive models validated for children with average height (Schofield, Institute of Medicine, and Tverskaya).

Results

All of the equations yielded a lower mean value than resting energy expenditure with indirect calorimetry (1256±200 kcal/day [mean±SD]) but the closest was the Tverskaya equation (1017 ± 64 kcal/day), although the difference remained statistically significant. We conclude that weight and height have the greatest influence on resting energy expenditure.

Conclusion

We recommend studying the relationship between body composition and energy expenditure in achondroplasia in more depth. In the absence of valid predictive models suitable for clinical use to estimate body composition and resting energy expenditure in achondroplasia, it is recommended to use the gold standard methods by taking into account certain anthropometric parameters.