The early management of neonates with meconium ileus (MI) and cystic fibrosis (CF) is highly variable across countries and is not standardized. We conducted a systematic review according to the Preferred Reporting Items for Systematic Reviews and Meta-analyses statement. The protocol was registered in PROSPERO (CRD42024522838). Studies from three providers of academic search engines were checked for inclusion criteria, using the following search terms: meconium ileus AND cystic fibrosis OR mucoviscidosis. Regarding the patient population studied, the inclusion criteria were defined using our predefined PICOT framework: studies on neonates with simple or complicated meconium which were confirmed to have cystic fibrosis and were conservatively managed or surgically treated. Results: A total of 566 publications from the last 10 years were verified by the authors of this review to find the most recent and relevant data, and only 8 met the inclusion criteria. Prenatally diagnosed meconium pseudocysts, bowel dilation, and ascites on ultrasound are predictors of neonatal surgery and risk factor for negative 12-month clinical outcomes in MI-CF newborns. For simple MI, conservative treatment with hypertonic solutions enemas can be effective in more than 25% of cases. If repeated enemas fail to disimpact the bowels, the Bishop–Koop stoma is a safe option. No comprehensive research has been conducted so far to determine the ideal surgical protocol for complicated MI. We only found three studies that reported the types of stomas performed and another study comparing the outcomes of patients depending on the surgical management; the conclusions are contradictory especially since the number of cases analyzed in each study was small. Between 18% and 38% of patients with complicated MI will require reoperation for various complications and the mortality rate varies between 0% and 8%. Conclusion: This study reveals a lack of strong data to support management decisions, unequivocally shows that the care of infants with MI is not standardized, and suggests a great need for international collaborative studies.

Background: Vitamin D plays an important role in maintaining bone health with numerous benefits for extraskeletal health as well. Objectives: We aimed to assess the prevalence of vitamin D deficiency in children (0–18 years old) in a tertiary hospital in Romania between August 2019 and January 2024 and to investigate the role of adequate supplementation in this vulnerable population. Methods: The serum 25(OH)D levels were measured using a chemiluminescence binding assay. Results: A total of 744 participants were included in this study: 396 female (53.23%) and 348 male (46.77%). The serum levels of 25(OH)D ranged between 2.2 and 125.4 ng/mL, with a mean value of 27.4 ng/mL and a median value of 23.5 ng/mL. According to the cutoff values for the definition of vitamin D status (severe deficiency: <10 ng/mL, deficiency: <20 ng/mL, insufficiency: 20–29 ng/mL, and sufficiency: ≥30 ng/mL), the sample consisted of 77 (10.34%) cases of severe deficiency, 221 (29.7%) cases of deficiency, 194 (26.07%) cases of insufficiency, and 245 (32.93%) cases of sufficiency. There were seven cases of hypervitaminosis D with values above 100 ng/mL. The mean values (and corresponding 95% confidence intervals, CIs) were as follows: 27.85 ng/mL [25.95–29.76] in the males, 22.45 ng/mL [25.12–28.82] in the females, 24.82 ng/mL [21.86–27.77] in the spring, 28.62 ng/mL [26.42–30.81] in the summer, 32.30 ng/mL [29.16–35.44] in the autumn, and 24.01 ng/mL [21.57–26.44] in the winter. We observed a notable decline in the serum 25(OH)D levels with age, with 82.08% of the children in the age group above 6 years old having serum 25(OH)D levels below 30 ng/mL. In obese subjects, a higher prevalence of hypovitaminosis D was observed compared to non-obese subjects, with a mean value of 19.54 [17.50–21.57] ng/mL in obese children versus 28.89 [27.39–30.40] ng/mL in normal weight children. Conclusions: In our sample, the mean serum concentration of 25(OH)D was 27.4 ng/mL. Notably, 66.11% of the cases demonstrated varying degrees of hypovitaminosis D, with a significantly higher prevalence of 86.16% observed in the obese group. Healthcare providers should prioritize routine screening for vitamin D levels in pediatric patients with obesity to facilitate timely intervention and personalized supplementation strategies tailored to individual needs

This paper delineates several aspects of cystic fibrosis-related diabetes (CFRD)—a common complication of cystic fibrosis (CF). CFRD exhibits a predilection for older individuals with CF, yet it also extends its influence on children and adolescents. Scientific insights postulate a potential link between CFRD and the aberrant mucus production within the pancreas, thereby culminating in pancreatic insufficiency. This, in turn, perturbs the synthesis of insulin, a pivotal endocrine hormone responsible for the regulation of glycemic levels. Standardized protocols advocate for the systematic screening of CFRD among all individuals with CF, commencing at the age of 10 years using the oral glucose tolerance test (OGTT). Therapeutic modalities encompass insulin therapy, dietary adjustments, and the vigilant monitoring of glycemic parameters. The overarching objective is to maintain blood glucose levels within a targeted range to mitigate the advent of diabetic complications. Untreated or sub-optimally managed CFRD can precipitate a spectrum of deleterious health ramifications, encompassing cardiovascular afflictions, neuropathy, renal dysfunction, and ocular complications.

Introduction: Cystic fibrosis (CF) is a genetic condition affecting several organs and systems, including the pancreas, colon, respiratory system, and reproductive system. The detection of a growing number of CFTR variants and genotypes has contributed to an increase in the CF population which, in turn, has had an impact on the overall statistics regarding the prognosis and outcome of the condition. Given the increase in life expectancy, it is critical to better predict outcomes and prognosticate in CF. Thus, each person’s choice to aggressively treat specific disease components can be more appropriate and tailored, further increasing survival. The objective of our narrative review is to summarize the most recent information concerning the value and significance of clinical parameters in predicting outcomes, such as gender, diabetes, liver and pancreatic status, lung function, radiography, bacteriology, and blood and sputum biomarkers of inflammation and disease, and how variations in these parameters affect prognosis from the prenatal stage to maturity. Materials and methods: A methodological search of the available data was performed with regard to prognostic factors in the evolution of CF in children and young adults. We evaluated articles from the PubMed academic search engine using the following search terms: prognostic factors AND children AND cystic fibrosis OR mucoviscidosis. Results: We found that it is crucial to customize CF patients’ care based on their unique clinical and biological parameters, genetics, and related comorbidities. Conclusions: The predictive significance of more dynamic clinical condition markers provides more realistic future objectives to center treatment and targets for each patient. Over the past ten years, improvements in care, diagnostics, and treatment have impacted the prognosis for CF. Although genotyping offers a way to categorize CF to direct research and treatment, it is crucial to understand that a variety of other factors, such as epigenetics, genetic modifiers, environmental factors, and socioeconomic status, can affect CF outcomes. The long-term management of this complicated multisystem condition has been made easier for patients, their families, and physicians by earlier and more accurate identification techniques, evidence-based research, and centralized expert multidisciplinary care.

Cystic fibrosis (CF) is a rare autosomal recessive genetic disease that has a progressive and multisystemic course. The spectrum and frequency of mutations in the gene enco-ding the cystic fibrosis transmembrane conductance regulator (CFTR) varies both in European countries and in other geographical regions. The aim of the our retrospective study was to present the genetic variants identified in a group of 48 patients with CF patients from the Moldova region (Romania), as well as to establish genotype-phenotype correlations. Genetic testing was initially performed for 38 CFTR mutations, and in heterozygous patients or in whom no mutation was detected, CFTR gene sequencing (NGS) was performed.The compound heterozygous genotype was identified in 26 (54.16%) of the patients (one of the alleles being F508del), while 22 (45.83%) patients had the homozygous F508del genotype. The F508del variant was the most frequent (69.79%), followed by: G542X (6.25%, 6/96), c.621 +1G>T (3.12%, 3/96), 1677delTA (3.12%, 3/96), 185+1G->T (3.12%, 3/96), 2184insA (2.08%, 2/96), c.917dupA (2.08%, 2/96) and 3849G>A (2.08%, 2/96). Several new variants were also identified, which had not been reported in other studies from Romania (R1158X, K598*, R347H, c.2589_2599del, R496H, and CFTRdele2). We compared the results obtained with data from the literature and correlated the detected CFTR variant (genotype) with the phenotypic manifestations, highlighting certain particularities present in some patients. Genetic testing allows for early diagnosis and adapted management, including personalized treatment for each patient. Identification of novel unclassified CFTR variants still remains a challenge for clinicians. NGS-based screening of heterozygous healthy carriers is important for both genetic counseling and prenatal diagnosis.

Pediatric obesity is a growing public health concern, significantly increasing the risk of metabolic and cardiovascular comorbidities. Background/Objectives: This study aims to explore the burden of obesity, its associated comorbidities, and resting metabolic rate (RMR) assessed by indirect calorimetry among children and adolescents in a cohort of 223 participants from Nord-East of Romania. Methods: A cross-sectional study was conducted among 223 children and adolescents (aged 4–18 years) who were diagnosed with obesity at Saint Mary Emergency Children’s Hospital Iași. Anthropometric measurements, clinical assessment, and biochemical parameters were recorded. RMR was measured by indirect calorimetry, using the Fitmate Pro Metabolic Technology (Cosmed, Rome, Italy), under a stable environment for 15 min, following a fasting period of minimum 6–8 h. Data were analyzed using SPSS 22.0, applying descriptive statistics and Pearson correlations. Results: A total of 223 participants were included in the analysis, with a mean age of 12.03 ± 3.32 years (range 4–17 years) and a mean body mass index (BMI) of 31.21 ± 5.84 kg/m². The average RMR was 1687.5 ± 425.5 kcal/day, with higher values in males compared with females. RMR showed significant positive correlations with age (r = 0.60), BMI (r = 0.51), waist circumference (r = 0.67), and fat mass measured with a three-site formula technique (r = 0.51) and systolic (r = 0.45) and diastolic blood pressure (r = 0.19), all with p < 0.001. A weak inverse correlation was observed between RMR and the fitness index (r = −0.24, p < 0.001), indicating an association between lower fitness scores and higher RMR values. RMR showed no significant correlation with fasting glucose or lipid levels, indicating that metabolic rate was more influenced by body composition than by biochemical markers. Conclusions: Pediatric obesity is strongly linked to multiple comorbidities, emphasizing the need for early detection and targeted interventions. Higher BMI and central adiposity were associated with increased RMR. Indirect calorimetry provides valuable insights into the metabolic profile of children with obesity and can inform individualized management strategies.