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BackgroundA collaboration between the University of Michigan (UM) Cystic Fibrosis Center (CFC) and Marmara University (MU) CFC was initiated in MU through conducting Quality Improvement projects (QIP). The global aim was to improve nutritional status of children with CF (cwCF), with a specific aim to increase the mean BMI percentile (BMIp) for cwCF by 10 percentile points in 12 months. MethodsBody mass index (BMI) percentiles of cwCF were categorized as: nutritionally adequate (BMIp >= 50%); at risk (BMIp 25%-49%); urgently at risk (BMIp 10%-25%); critically at risk (BMIp < 10%). Appropriate interventions were made according to BMIp category every three months. Forced expiratory volume in one-second percent predicted (FEV1pp), and health-related quality of life (HRQoL) were evaluated. ResultsOne hundred and eight-two cwCF with a mean age of 9.1 +/- 4.3 years were included in the project. Baseline BMIp increased from 25.6 to 37.2 at the 12th month (p < 0.001). In the critically at-risk group BMIp increased from 3.6 to 20.5 (p < 0.001), in the urgently at risk group from 15.9 to 30.8 (p < 0.001), in the at risk group from 37.0 to 44.2 (p < 0.079) and in the nutritionally adequate group the increase was from 66.8 to 69.5 (p < 0.301). FEV1pp also improved significantly, from 81.3 +/- 20.6 to 85.9 +/- 20.8 (p < 0.001). Physical functioning, eating problems, and respiratory symptoms domains of the HRQoL evaluation improved (p < 0.05). ConclusionThis project has led to significant improvements in BMIp, FEV1pp and HRQoL of cwCF; similar projects could easily be implemented by centers in other developing countries.

Warburg micro syndrome (WARBM) is a rare, autosomal recessive, neurodevelopmental disorder characterized by microcephaly, cortical dysplasia, corpus callosum hypoplasia, congenital hypotonia leading to subsequent spastic quadriplegia, severe developmental delay and hypogenitalism. Ophthalmologic findings that may affect any ocular segment including characteristic, small, atonic pupils. WARBM is known to be caused by biallelic, pathogenic variants in at least five genes although additional genetic loci may exist. The RAB3GAP1 c.748 + 1G>A, p.Asp250CysfsTer24 founder variant has been described in families of Turkish ancestry. We report the clinical and molecular findings in three, unrelated, Turkish families with WARBM. A novel c.974-2A>G variant causing WARBM in three siblings of Turkish descent was found. Functional studies of the novel, c.2606 + 1G>A variant in patients\" mRNA revealed skipping of exon 22 which results in a premature stop codon in exon 23. However, the clinical consequences of this variant are blended given that the individual also had a maternally inherited chromosome 3q29 microduplication.

Backgrounds: Brucellosis is a systemic zoonotic disease. Osteoarticular (OA) system involvement is a common complication and the predominant manifestation of brucellosis in children. We aimed to evaluate the epidemiologic, demographic, clinical characteristics, and laboratory and radiologic findings of children with brucellosis and how these related to OA involvement. Methods: This retrospective cohort study consisted of all consecutive children and adolescents diagnosed as having brucellosis who were admitted to the pediatric infectious disease department of University of Health Sciences Van Research and Training Hospital between August 1, 2017, and December 31, 2018, in Turkey. Results: A total of 185 patients diagnosed as having brucellosis were evaluated, 50.8% had OA involvement (n = 94). Seventy-two patients (76.6%) exhibited peripheral arthritis involvement, among of them, hip arthritis (63.9%; n = 46) was the most common manifestation, followed by arthritis of knee (30.6%; n = 22), shoulder (4.2%; n = 3) and elbow (4.2%; n = 3). A total of 31 patients (33.0%) had sacroiliac joint involvement. Seven patients (7.4%) had spinal brucellosis. Erythrocyte sedimentation rate level above 20 mm/h at admission and age were independent predictor of OA involvement (respectively odds ratio [OR] = 2.82; 95% confidential interval [CI] = 1.41-5.64, ORperyear= 1.10; 95% CI: 1.01-1.19). Increasing age was associated types of OA involvement. Conclusion: A half of brucellosis cases had OA involvement. These results can help physicians to make early identification and diagnosis of childhood OA brucellosis who present with arthritis and arthralgia to enable the disease to be treated in time.

Respiratory distress syndrome (RDS) care pathways evolve slowly as new evidence emerges. We report the sixth version of “European Guidelines for the Management of RDS” by a panel of experienced European neonatologists and an expert perinatal obstetrician based on available literature up to end of 2022. Optimising outcome for babies with RDS includes prediction of risk of preterm delivery, appropriate maternal transfer to a perinatal centre, and appropriate and timely use of antenatal steroids. Evidence-based lung-protective management includes initiation of non-invasive respiratory support from birth, judicious use of oxygen, early surfactant administration, caffeine therapy, and avoidance of intubation and mechanical ventilation where possible. Methods of ongoing non-invasive respiratory support have been further refined and may help reduce chronic lung disease. As technology for delivering mechanical ventilation improves, the risk of causing lung injury should decrease, although minimising time spent on mechanical ventilation by targeted use of postnatal corticosteroids remains essential. The general care of infants with RDS is also reviewed, including emphasis on appropriate cardiovascular support and judicious use of antibiotics as being important determinants of best outcome. We would like to dedicate this guideline to the memory of Professor Henry Halliday who died on November 12, 2022.These updated guidelines contain evidence from recent Cochrane reviews and medical literature since 2019. Strength of evidence supporting recommendations has been evaluated using the GRADE system. There are changes to some of the previous recommendations as well as some changes to the strength of evidence supporting recommendations that have not changed. This guideline has been endorsed by the European Society for Paediatric Research (ESPR) and the Union of European Neonatal and Perinatal Societies (UENPS).

© 2022 Elsevier B.V.Objective: Objective methods to monitor the sleep of preterm infants at the neonatal intensive care unit (NICU) are required to prevent potentially adverse neurodevelopmental outcomes. This study aimed to determine the concordance of actigraphy and amplitude-integrated electroencephalogram (aEEG) against gold standard direct observation (DO) in assessing sleep/wake states of typically developing preterm infants. Methods: This prospective observational study was conducted in a single center level III NICU. Sleep variables were measured using Philips Respironics Mini-Mitter® Actiwatch-2 for 24 h and compared with 8-h matched data of aEEG and DO. Sensitivity-specificity analysis, Cohen's kappa, prevalence-adjusted and bias-adjusted kappa (PABAK), and Bland Altman plots were generated. Results: Seventeen preterm infants were recruited. A total of 11252 epochs were studied. Sensitivity (86.4%), agreement rate (67.9%), and predictive value for wake (47.9%) for the actigraphy were highest at the automatic activity threshold whereas specificity (54.5%) and predictive value for sleep (75.5%) were highest at low threshold. The sensitivity of aEEG was 79.3% and the specificity was 54.3%. At all thresholds, the agreement was largely equivalent with low kappas (0.14–0.17) and PABAK coefficients (0.22–0.35) for actigraphy and DO. Moderate agreement was observed between aEEG and DO according to the PABAK coefficient (0.44). Mean differences in sleep parameters were not different between DO and aEEG as well as DO/aEEG and actigraphy at medium threshold (p > 0.05). Conclusions: Actigraphy at medium threshold can be used in depicting sleep in typically developing preterm infants at NICU. aEEG may be an alternative adjunctive method to actigraphy for the evaluation of sleep/wake states in the NICU setting. Clinical trial registration number: NCT04145362

Introduction The Plethysmographic Variability Index can be measured by both finger and forehead probes. Vasoconstriction may jeopardize the reliability of finger PVI measurements in pediatric patients undergoing surgery. However, forehead vasculature exhibits more marked resistance to alterations in the vasomotor tonus. Objective Our aim was to compare the Plethysmographic Variability Index measured via finger or forehead probes in mechanically ventilated pediatric surgery patients in terms of their ability to predict fluid responsiveness as well as to determine the best cut-off values for these two measurements. Materials and Methods A total of 50 pediatric patients undergoing minor elective surgery were included after provision of parental consent and ethics committee approval. Perfusion index measured at the finger or forehead and Plethysmographic Variability Index monitoring comprised the primary assessments. Hemodynamic parameters monitored included perfusion index, Plethysmographic Variability Index, and cardiac output. A >= 15% increase in cardiac output following passive leg raise maneuver was considered to show fluid responsiveness. Two groups were defined based on fluid responsiveness: Group R (responsive) and Group NR (non-responsive). Student\"s t-test, Mann-Whitney U test, DeLong test, and ROC were used for statistical analysis. Results The area under curve for finger and forehead Plethysmographic Variability Index prior to passive leg raise maneuver were 0.699 (p = .011) and 0.847 (p < .001), respectively. The sensitivity for finger and forehead measurements at a cut-off value of

© 2022-IOS Press. All rights reserved.Sjögren-Larsson syndrome (SLS) is a rare neurocutaneous disorder characterized by the presence of congenital ichthyosis, spasticity, and mental retardation. As with other rare genetic diseases, treatment is mainly symptomatic. Due to the absence of definitive treatment, lifelong follow-up and support of patients are important to improve the quality of life. A 7-year-old female child who was diagnosed as having SLS was referred to the rehabilitation clinic. After 20 sessions of a rehabilitation program, she started walking independently with the additional contribution of ankle-foot orthoses (AFOs). The contribution of the short-term rehabilitation approach and especially the administration of AFOs to the independence level of the patient is emphasized herein.

Background and Aim Pulmonary embolism (PE) is a potentially life-threatening disease in children. The objective of the study is to evaluate the utility of adult-based pulmonary embolism rule-out criteria (PERC), Pediatric PE Model, and D-dimer in the diagnosis of PE in children. Material and Methods The study consisted of patients under 18 years of age who were consulted to the Pediatric Pulmonology Clinic for the evaluation of PE. Patients were divided into two groups based on the confirmation of PE. The group with the presence of PE (n = 20) consisted of children who were diagnosed with PE. The group with the absence of PE (n = 28) consisted of children with clinically suspected PE but negative diagnostic imaging. Adult validated clinical decision PERC rule and Pediatric PE Model were retrospectively applied to the patients. Results In the study, PERC demonstrated a sensitivity of 60% and a specificity of 46% for the diagnosis of PE in children. When PE Model was evaluated for the children, it was found a 50% sensitivity and 75% specificity. Combining PE Model and PERC rule with D-dimer did not increase the specificity and sensitivity. Smoking was found to be relevant for PE in the childhood. Twenty-five percent of the patients had a genetic tendency for PE. All of the patients had an underlying disease as well. Conclusion None of the current risk assessment tools (PE Model, PERC, D-dimer) were found to be accurate in predicting PE. Further larger population studies are still required to develop a better diagnostic approach.

Objective: We aimed to present the characteristics, genetic analysis results, long-term prognosis of our patients with distal kidney tubular acidosis, and the relationship between hyperammonemia and distal kidney tubular acidosis. Materials and Methods: Biochemical, clinical, and imaging findings were collected at presentation and the last clinic visit, and results of the genetic analysis were recorded. Results: Our study included 9 patients (3 female, 33%). The median age at diagnosis was 3 months, and the median follow-up period was 111 months. Height standard deviation scores were less than −2 in 4 (44%) patients at presentation and in 3 (33%) at the last clinic visit. The median estimated glomerular filtration rate was 98 mL/min/1.73 m2 at presentation and 126 mL/min/1.73 m2 at the last clinic visit. We have found 8 different types of mutations of 2 genes, including 6 in the ATP6V0A4 gene, 2 in the SLCA4A1 gene, and 2 of them were novel. At the time of presentation, nephrocalcinosis and hypercalciuria were present in all our patients, but at the last visit, only 1 patient had hypercalciuria. Sensorineural hearing loss was found in 4 of our patients with a mutation in the ATP6V0A4 gene. Serum ammonia levels were found to be high in 3 patients with mutations in the ATP6V0A4 gene. Conclusion: Adequate metabolic control is essential for optimal growth and preserved kidney function in distal kidney tubular acidosis patients. Distal kidney tubular acidosis may be associated with hyperammonemia. We recommend keeping potassium levels at high-normal levels to reduce ammonia levels, especially in the absence of acidosis.

Biallelic RNPC3 variants have been reported in a few patients with growth hormone deficiency, either in isolation or in association with central hypothyroidism, congenital cataract, neuropathy, developmental delay/intellectual disability, hypogonadism, and pituitary hypoplasia. To describe a new patient with syndromic congenital hypopituitarism and diffuse brain atrophy due to RNPC3 mutations and to compare her clinical and molecular characteristics and pituitary functions with previously published patients. A 20-year-old female presented with severe growth, neuromotor, and developmental delay. Her weight, height, and head circumference were 5135 gr (-25.81 SDS), 68 cm (-16.17 SDS), and 34 cm (-17.03 SDS), respectively. She was prepubertal, and had dysmorphic facies, contractures, and spasticity in the extremities, and severe truncal hypotonia. There were no radiological signs of a skeletal dysplasia. The bone age was extremely delayed at 2 years. Investigation of pituitary function revealed growth hormone, prolactin, and thyroid-stimulating hormone deficiencies. Whole-exome sequencing revealed a novel homozygous missense (c.1328A > G; Y443C) variant in RNPC3. Cranial MRI revealed a hypoplastic anterior pituitary with diffuse cerebral and cerebellar atrophy. The Y443C variant in RNPC3 associated with syndromic congenital hypopituitarism and abnormal brain development. This report extends the RNPC3-related hypopituitarism phenotype with a severe neurodegenerative presentation.

The diagnosis of brain death is primarily clinical. Sometimes ancillary tests are needed.This study compared sensitivity and interobserver agreement of the 10-, 7- and 4-point CT angiography scoring systems for the diagnosis of brain death in children.CT angiography examinations of 50 pediatric patients with a clinical diagnosis of brain death were evaluated according to 10-, 7- and 4-point scoring systems. Images were evaluated by two radiologists who considered the vessel opacification first in the arterial phase (AUsing the clinical exam as the reference standard, we found sensitivities for 10-, 7- and 4-point scoring systems to be 70%, 88% and 92% in the AJust as in adult age groups, in children the 4-point scale appears to be more sensitive than the 10- and 7-point scales for CT angiography-based assessment of brain death. Because the scoring systems have similar sensitivities, they could be used as ancillary tests in pediatric cases.

European CF Society Neonatal Screening Working Group (ECFS NSWG): Sabine Renner , Max Zeyda , Elke de Wachter , Luc Regal , Felix Votava, Andrea Holubova, Marianne Skov , Tessa Morgan, Paul Bregeaut , Loretta O'Grady, Ines Bucci , Stefano Pantano , Simonetta Simonetti, Domenica De Venuto, Donatello Salvatore, Nicola Perrotti, Mimma Caloiero, Giuseppe Castaldo, Antonella Tosco, Francesca Righetti, Giovanna Pisi, Fiorella Battistini, Antonio Angeloni, Giuseppe Cimino, Giovanni Fiocchi, Antonella Angiolillo, Michela Cassanello, Luisella Alberti, Laura E Claut, Raffaele Badolato, Enza Pavanello, Benedetta Fabrizzi, Elisabetta Bignamini, Anna Cardillo, Mariangela Lombardo, Letizia Cocciadiferro, Lisa Termini, Daniela Dolce, Vito Terlizzi, Anna Tamanini, Francesca Pauro, Giancarlo la Marca, Elina Aleksejeva, Dita Gaidule-Logina, Stoika Fustik, Violeta Anastasovska, Marelle Bouva, Alastair Reid, Jennifer Cundick, Emma Lundman, Egil Bakkeheim, Katarzyna Zybert, Mariusz Oltarzewski, Laura Vilarinho, Victoria Sherman, Elena Kondratyeva, Sarah Smith, Gordana Vilotijevic Dautovic, Maria Knapkova, Zuzana Mydlova, Rosa Mª López, Valle Velasco, Felicitas Díaz Flores, Cristóbal Colón Mejeras, Eva Sl Pedersen, Ugur Ozcelik, Bulent Karadag, Halyna Makukh, Moat Stuart. European CF Society Neonatal Screening Working Group (ECFS NSWG): INSA - Laura Vilarinho Background: The aim of this study was to record the current status of newborn bloodspot screening (NBS) for CF across Europe and assess performance. Methods: Survey of representatives of NBS for CF programmes across Europe. Performance was assessed through a framework developed in a previous exercise. Results: In 2022, we identified 22 national and 34 regional programmes in Europe. Barriers to establishing NBS included cost and political inertia. Performance was assessed from 2019 data reported by 21 national and 21 regional programmes. All programmes employed different protocols, with IRT-DNA the most common strategy. Six national and 11 regional programmes did not use DNA analysis. Conclusions: Integrating DNA analysis into the NBS protocol improves PPV, but at the expense of increased carrier and CFSPID recognition. Some programmes employ strategies to mitigate these outcomes. Programmes should constantly strive to improve performance but large datasets are needed to assess outcomes reliably. Highlights: In 2022, newborn bloodspot screening (NBS) for CF is undertaken in 30 European countries, 26 of them are national programmes; Some programmes are still not achieving ECFS standards. Compared to 2014, there is an improvement in sensitivity but a deterioration in achieving a sufficient PPV; There continues to be a wide variety of approaches, but the majority of national programmes are now using DNA analysis as a 2nd tier; This survey demonstrates areas of good practice, but there is considerable scope for improvement in the quality of NBS for CF across Europe; The framework of the 20 parameters to calculate the 8 key outcomes should be part of any annual report of a CF NBS programme, and thus improve future surveys. The survey was funded by the European CF Society info:eu-repo/semantics/publishedVersion

Introduction: Endogenous Cushing’s syndrome (CS) is a rare, severe disease that can cause multiple systemic involvement and behavioral problems due to excessive cortisol production. Structural changes can be noted in the brain magnetic resonance imaging (MRI) scans of these cases. Cases: A 9-year-old girl and a 13-year-old boy were admitted with hypercortisolism. In the female patient, altered consciousness was prominent along with cerebral and cerebellar brain atrophy, and findings indicating posterior reversible encephalopathy syndrome were detected in the brain MRI. Although the male patient's neurological examination was normal, significant cerebral atrophy was seen in the brain MRI. Case 1 was diagnosed as having ectopic ACTH syndrome (EAS) due to a thymic carcinoid tumor. Case 2 underwent a pulmonary lobectomy upon detection of a bronchial lesion in the Ga-68 DOTATATE PET/CT scan while being examined for EAS due to a lack of suppression in the high-dose dexamethasone suppression test. However, hypercortisolism persisted despite the removal of the bronchial lesion, and subsequently, a diagnosis of Cushing’s disease was established following bilateral inferior petrosal sinus sampling. Discussion: Endogenous hypercortisolism may cause brain atrophy of varying severity. Central nervous system findings can be overlooked in children with CS. More comprehensive studies are needed to better understand the behavioral changes caused by the effects on the brain and to evaluate whether these changes are reversible. In addition, identifying the source of hypercortisolism can be difficult due to a lack of experience related to the rarity of the disease in children.

© 2023 Elsevier B.V.Objective: This longitudinal study aimed to investigate the maturational development of P1 latency and the effects of a short inter-implant delay in children who received bilateral sequential cochlear implants. Materials and methods: Fourteen children (first CI mean age: 1.4 ± 0.4 years and Second CI mean age: 3.3 ± 0.5 years) who had received sequential bilateral cochlear implants during the sensitive period for auditory maturation participated in our study. The speech-evoked cortical P1 response was recorded after the activation of the second CI at four intervals (implant activation, 3 months, 6 months, 12 months) under three listening conditions (first CI, second CI, binaural). Results: Our results showed that the P1 latencies of the second CI reached normative values within 3 months, but did not reach the P1 latency of the first CI until 12 months. We found a strong negative correlation between the inter-implant delay and the P1 latencies of the second CI when the second CI was activated. Conclusion: Changes in cortical auditory responses over time resulted in normal auditory maturation in children with sequential bilateral cochlear implants during the sensitive period. The results also provide evidence that the timing of auditory experience in the first ear during the sensitive period may influence the speed of compensation in children receiving sequential cochlear implants.

Objectives: Central precocious puberty (CPP) develops as a result of early stimulation of the hypothalamic-pituitary-gonadal (HPG) axis. The loss-of-function mutations in the Makorin-ring-finger3 (MKRN3) gene appear to be the most common molecular cause of familial CPP. We aimed to identify MKRN3 gene mutations in our CPP cohort and to investigate the frequency of MKRN3 mutations.Methods: 102 patients with CPP included. 53 of them had family history of CPP in the first and/or second-degree relatives. MKRN3 gene was analyzed by next-generation sequencing.Results: Possible pathogenic variants were found in 2/53 patients with family history of CPP (3.8%) and 1/49 patient without family history (2%). A novel heterozygous c.1A > G (p.Met1Val) mutation, a novel heterozygous c.683_684delCA (p.Ser228*) and a previously reported c.482dupC (Ala162Glyfs*) frameshift variations were detected. The two novel variants are predicted to be pathogenic in silico analyses.Conclusions: In our cohort, possible pathogenic variants in MKRN3 gene were detected in 2.9% of the total cohort, 3.8% of the familial and 2% of the nonfamilial cases, slightly lower than that reported in the literature. Two novel variants detected contribute to the molecular repertoire of MKRN3 defects in CPP. Classical pattern of paternal inheritance has been demonstrated in all three cases. However, the father of the patient 3 did not have history of CPP suggesting that the father inherited this variant from his mother and had phenotype skipping. Therefore, we emphasize that the absence of history of CPP in the father does not exclude the possibility of a MKRN3 mutation.

Evaluation of emergency department (ED) presentation by Syrian refugee children might provide important information about their health care needs. For this purpose, we compared ED presentation of refugee and resident children in a tertiary university hospital in Istanbul, Turkey.Electronic medical records of Syrian refugee children ≤ 18 years old presenting to the ED between January 2013 and July 2019 were retrospectively reviewed and compared with resident children.The study population consisted of 7299 refugees and 690,127 resident children admitted to the ED. High-acuity cases were more frequent in Syrian refugees (2.2% vs 1% p 0.001). One-third of Syrian children were under 12 months of age (31% vs 17%, p 0.001). Syrian children were more commonly hospitalized (7.9% vs 3.1% p 0.001). The median age (and interquartile range - IQR) was lower in hospitalized refugee than in resident children [12 (0-83) months vs 41 (8-111) months, p 0.001]. Rate of intensive care unit hospitalization (13% vs 9.4%, p = 0.001) and neonatal hospitalization was higher in Syrians compared to resident children (29% vs 12%, p 0.001). The median NICU stay was longer in refugees [6 (IQR 4-17) days vs 3 (IQR 1-9) days, p 0.001].Refugee children, as compared to resident children, are more likely to present to the ED with high acuity conditions and at a younger age resulting in higher rates of inpatient admissions. Strategies to increase access to preventive health care services for young refugee children should be explored to decrease ED and hospital services and improve health outcomes.• Children are the most affected victims of armed conflicts in terms of health outcomes. • Refugees prefer to access healthcare through the emergency department.• Refugee children were more likely to present as urgent when compared to resident children. • Admission to neonatal and intensive care units was more frequent among refugee than resident children.

There are various oral symptoms related to the disease and its management in individuals with chronic kidney disease (CKD). The aim of the study was to investigate the oral health status of children with different stages of CKD, kidney transplant recipients (KTR), and healthy children.A total of seventy-one children diagnosed with CKD and fifty-two healthy children were included in the study. Each patient was examined for dental caries by the decayed-missing-filled-teeth (DMFT/dmft) index and the International Caries Detection and Assessment System (ICDAS-II), developmental defects of enamel (DDE) by the DDE index, and oral hygiene by the debris (DI), calculus (CI), and simplified oral hygiene (OHI-S) indices.The median number of DMFT/dmft was 1.00 (interquartile range (IQR):1.00-4.00) in children with stage 1-3 CKD, 0.00 (IQR: 0.00-2.50) in stage 4-5 children, 0.00 (IQR: 1.00-3.00) in KTR, and 8.00 (IQR: 1.00-13.00) in healthy children. According to ICDAS-II categories, the percentage of children with severe caries was 53.8% in healthy children, while it was 44.4% in KTR, 25.9% in stage 1-3, and 11.4% in stage 4-5 children. While the percentage of children with DDE was 88.8% in KTR, 80% in stage 4-5, and 66.7% in stage 1-3 children, this rate was 44.2% in healthy children. The highest mean OHI-S score was observed in stage 4-5 children (2.10 ± 1.08), followed by KTR (1.46 ± 1.19), stage 1-3 (1.27 ± 0.61), and healthy children (0.45 ± 0.44), respectively.Compared to healthy children, children with CKD had more debris accumulation, calculus formation, and more DDE but a lower severity of dental caries. A higher resolution version of the Graphical abstract is available as Supplementary information.

Background: Although the number of studies showing the efficacy of conservative treatment in adolescent idiopathic scoliosis has increased, studies with long-term follow-up are very limited. The aim of this study was to present the long-term effects of a conservative management method including exercise and brace in adolescent idiopathic scoliosis patients. Methods: This retrospective cohort study included patients with idiopathic scoliosis who presented at our department and were followed up for at least 2 years after completing the treatment. The main outcome measurements were the Cobb angle and angle of trunk rotation (ATR). Results: The cohort participants were 90.4% female, with a mean age of 11 years and the maximum Cobb angle was mean 32.1°. The mean post-treatment follow-up period was 27.8 months (range 24–71 months). The improvements after treatment in mean maximum Cobb angle (p < 0.001) and ATR (p = 0.001) were statistically significant. At the end of treatment, the maximum Cobb angle was improved in 88.1% of the patients and worsened in 11.9% compared to baseline. In the long-term follow-up evaluations, 83.3% of the curvatures remained stable. Conclusions: The results of this study showed that moderate idiopathic scoliosis in growing adolescents can be successfully halted with appropriate conservative treatment and that long-term improvement is largely maintained.

© 2022, The Author(s), under exclusive licence to International Pediatric Nephrology Association.Background: Automated peritoneal dialysis (APD) is increasingly preferred worldwide. By using a software application (Homechoice with Claria sharesource system (CSS)) with a mod-M added to the APD device, details of the home dialysis treatment become visible for PD nurses and physicians, allowing for close supervision. We aimed to evaluate the perceptions of patients/caregivers, PD nurses, and physicians about the advantages and disadvantages of CSS. Methods: Three different web-based questionnaires for patients/caregivers, nurses, and physicians were sent to 15 pediatric nephrology centers with more than 1 year of experience with CSS. Results: Respective questionnaires were answered by 30 patients/caregivers, 22 pediatric nephrologists, and 15 PD nurses. Most of the nurses and physicians (87% and 73%) reported that CSS improved patient monitoring. A total of 73% of nurses suggested that CCS is not well known by physicians, while half of them reported reviewing CSS data for all patients every morning. Sixty-eight percent of physicians thought that CSS helps save time for both patients/caregivers and healthcare providers by reducing visits. However, only 20% of patients/caregivers reported reduced hospital visits. A total of 90% of patients/caregivers reported that being under constant monitoring made them feel safe, and 83% stated that the patient’s sleep quality improved. Conclusions: A remote monitoring APD system, CSS, can be successfully applied with children for increased adherence to dialysis prescription by giving shared responsibility and may help increase the patient’s quality of life. This platform is more commonly used by nurses than physicians. Its potential benefits should be evaluated in further well-designed clinical studies with larger patient groups. Graphical abstract: A higher resolution version of the Graphical abstract is available as Supplementary information. [Figure not available: see fulltext.]

Background: A collaboration between the University of Michigan (U of M) Cystic Fibrosis Center (CFC) and Marmara University (MU) CFC was initiated to improve the health status of people with cystic fibrosis (pwCF) at MU through implementing Quality Improvement (QI) initiatives. The main aim was to improve lung function in children with FEV1pp

Objective: To assess serial methemoglobin (MetHb) levels in preterm infants as a possible diagnostic method for late-onset sepsis (LOS). Methods: Preterm infants were assigned into two groups: those with culture-proven LOS and controls. Serial MetHb levels were measured. Results: The MetHb values of the LOS group were found to be significantly increased (p 1.75%, optimized for a sensitivity of 81.9% and specificity of 90%. After antimicrobial therapy, MetHb values were found to decrease significantly (p 2% (p 2% is associated with LOS mortality.

Impaired muscle strength, proprioceptive and vestibular deficits, and orthopedic dysfunction are common disorders associated with Down syndrome (DS). Hippotherapy uses the horses’ multidimensional movement to improve posture, balance, and overall function, both motor and sensory. Research evidence supports hippotherapy as an effective, medically recognized intervention for the rehabilitation of gross motor skills. The aim of this study was to determine the effect of hippotherapy on balance, functional mobility, and functional independence in children with DS. Thirty-four children with DS were randomly assigned to the experimental (hippotherapy) and control groups after the initial assessment. Both groups received physiotherapy including balance exercises, and the experimental group also received hippotherapy as an integrative therapy. Pediatric Balance Scale (PBS), Timed Up and Go Test (TUG), and Functional Independence Measure for Children (WeeFIM) were used before and after the intervention. Baseline outcome measures (PBS, TUG, WeeFIM) were statistically similar between groups (p > 0.05). After the intervention, PBS and TUG scores improved in both groups (p < 0.05). On the other hand, WeeFIM scores improved just in the hippotherapy group (p < 0.05). Conclusion: Therefore, providing hippotherapy as an integrative therapy to physiotherapy will be more effective in improving the functional independence of children with DS. Trial registration: NCT05297149 (March 2022, retrospectively registered).What is Known:• Hippotherapy has an improvement effect on balance and functional independence in different diseases and age groups, but the evidence is limited in DS.• There is limited evidence about the effect of hippotherapy on functional mobility in different diseases and age groups, but there is no evidence in DS.What is New:• Hippotherapy is a safe and effective approach to support improvement in functional independence in children with DS.

BackgroundThe direct and indirect effects of the COVID-19 pandemic on children and youth people are well documented. Little is known about children\"s experiences of the pandemic in their own words. We aimed to explore Turkish children\"s experiences and views about the pandemic, across private and public educational systems. MethodsSix focus group discussions were conducted online with 30 children aged between 7 to 18 years in 2021. Children were enrolled through snowball sampling technique according to developmental age groups. A thematic analysis was conducted. ResultsWe identified five themes: Compliance with public health measures about preventing the spread of COVID-19, changes in daily routines, emotional responses to the pandemic, distance education, and adaptive responses. Overall, children were well informed and receptive to the public health preventive measures with the exception of older children\"s tendency to disregard physical distancing with friends. They reported frustration with those who did not comply with measures and believed that the authorities should strictly enforce public health requirements. Emotional responses comprised fear of family members and themselves being infected, anxiety produced by the uncertainty of the virus, and the loss of social support. There was a perceived disparity between students from public and private schools regarding academic self-competence. Positive aspects of the pandemic included positive interactions with family members and the acquisition of new hobbies. Although most children acknowledged the support of their parents to deal with challenges, children of health workers were particularly isolated in terms of emotional support. ConclusionOur findings offer additional insights and validate previous research on the negative and positive effects of COVID-19 from the child\"s perspective across private and public educational systems. This study contributes to global advocacy efforts aimed at understanding the impact of the pandemic on children.

Introduction: Microbiota in healthy individuals includes many and different microorganisms. Infections, use of antibiotics, various chemicals (antiseptic solutions, soaps, shampoos, etc.) can change the human microbiota. This study was planned to compare the effect of wiping bath with 2% daily chlorhexidine gluconate and soap-free body washing solution on the skin microbiota of the patients hospitalized in the pediatric intensive care unit. Methods: The research was carried out as a randomized controlled experimental study with 60 children hospitalized in the pediatric intensive care unit of a training and research hospital in February 2021-January 2022. In the study, the children in group I (n=30) were given a wiping bath with 2% chlorhexidine gluconate, which is the routine application of the unit and the children in group II (n=30) were given a soap-free body wash solution. In both groups, swab samples were taken from the armpits and groin for 3 days just before the application of the wiping bath and 6 hours after the application of the wiping bath. Results Children participating in the study 36.7% (n=22) were girls and 63.3% (n=38) were boys. The mean age of the participants was determined as 6.05±5.04. When the reproductive changes in the permanent skin flora between the groups were examined, a significant difference was found between group I and group II before and after bathing on the 1st, 2nd and 3rd days (p=0.001). Persistent skin flora decreased significantly in group I on the 1st day, while it disappeared completely on the 2nd and 3rd days. In group II, the permanent skin flora continued to be preserved for 3 days. Conclusion: As a result of the research, it was determined that 2% chlorhexidine gluconate wiping bath in children hospitalized in the PICU significantly reduced the persistent skin flora in the armpits and groin. Giriş: Sağlıklı bireylerde flora, çok sayıda ve farklı mikroorganizmaları içermektedir. Enfeksiyonlar, antibiyotik kullanımı, çeşitli kimyasallar florayı değiştirebilmektedir. Bu çalışma çocuk yoğun bakım ünitesinde yatan çocukların günlük %2’lik klorheksidin glukonat ve sabunsuz vücut yıkama solüsyonu ile yapılan silme banyosunun kalıcı deri floralarına etkisinin karşılaştırılması amacıyla yapılmıştır. Yöntemler: Çalışma, Şubat 2021-Ocak 2022 yılında bir eğitim ve araştırma hastanesi çocuk yoğun bakım ünitesinde yatmakta olan 60 çocuk ile randomize kontrollü deneysel olarak gerçekleştirildi. Çalışmada grup I’deki (n=30) çocuklara ünitenin rutin uygulaması olan %2’lik klorheksidin glukonat ile grup II’deki (n=30) çocuklara ise sabunsuz vücut yıkama solüsyonu ile silme banyosu uygulanmıştır. Her iki grupta da 3 gün boyunca silme banyo uygulamasından hemen önce ve 6 saat sonrasında koltuk altı ve kasıktan sürüntü örnekleri alınmıştır. Bulgular: Çalışmamıza katılan çocukların %36,7’si (n=22) kız, %63,3’ü (n=38) erkektir. Katılımcıların ortalama yaşı 6,05±5,04 olarak belirlenmiştir. Gruplar arası kalıcı deri florasındaki üreme değişimleri incelendiğinde 1., 2. ve 3. günlerde banyo öncesi ve sonrasında grup I ve grup II arasında anlamlı düzeyde farklılık saptanmıştır (p=0,001). Birinci günde grup I’de kalıcı deri florası anlamlı düzeyde azalırken, 2. ve 3. günlerde ise tamamen yok olmuştur. Grup II’de ise 3 gün boyunca kalıcı deri florası korunmaya devam etmiştir. Sonuç: Araştırma sonucunda çocuk yoğun bakım ünitesinde yatan çocuklarda %2’lik klorheksidin glukonatlı silme banyosunun koltuk altı ve kasıktaki kalıcı deri florasını anlamlı düzeyde azalttığı saptanmıştır.

Objectives In this study, we examined executive function (EF) abilities, behavioral and emotional (BE) issues, and overall quality of life (QoL) of adolescents with obesity and compared them with a control group and also aimed to investigate whether the presence of insulin resistance (IR) is associated with these problems. Methods This cross-sectional study included a sample of 50 adolescents aged 11–18 years with obesity and age- and gender-matched 50 normal weight adolescents who had attended and were treated at the pediatric outpatient clinic. Sociodemographic data were collected through personal interviews with the adolescents and their parents. Measurements of the height and weight, fasting blood glucose, and insulin levels of all adolescents were assessed. In addition, the participants and their parents completed the Kiddo-KINDL, the Strengths and Difficulties Questionnaire, and the Behavior Rating Inventory Scale from Executive Function. Results Of the 50 adolescents with obesity, 27 (54.0 %) were girls, and 23 (46.0 %) were boys, with a mean age of 14.06 ± 1.83 years. Adolescents with obesity have more EF deficiencies, BE difficulties, more problems in peer relationships and lower QoL scores than those without obesity. The QoL was worse in girls, adolescents with obesity, and those with IR. Adolescents with obesity and those with and without IR did not differ about EF deficiencies and BE problems. Conclusions Addressing these EF deficits and BE problems in interventions for adolescents who have difficulty adapting to lifestyle changes, an essential part of obesity treatment in clinical practice, may contribute to treatment success.

Background: This study evaluated of clinical characteristics, outcomes, and mortality risk factors of a severe multisystem inflammatory syndrome in children admitted to a the pediatric intensive care unit. Methods: A retrospective multicenter cohort study was conducted between March 2020 and April 2021 at 41 PICUs in Turkey. The study population comprised 322 children diagnosed with multisystem inflammatory syndrome. Results: The organ systems most commonly involved were the cardiovascular and hematological systems. Intravenous immunoglobulin was used in 294 (91.3%) patients and corticosteroids in 266 (82.6%). Seventy-five (23.3%) children received therapeutic plasma exchange treatment. Patients with a longer duration of the PICU stay had more frequent respiratory, hematological, or renal involvement, and also had higher D-dimer, CK-MB, and procalcitonin levels. A total of 16 patients died, with mortality higher in patients with renal, respiratory, or neurological involvement, with severe cardiac impairment or shock. The non-surviving group also had higher leukocyte counts, lactate and ferritin levels, and a need for mechanical ventilation. Conclusions: In cases of MIS-C, high levels of D-dimer and CK-MB are associated with a longer duration of PICU stay. Non-survival correlates with elevated leukocyte counts and lactate and ferritin levels. We were unable to show any positive effect of therapeutic plasma exchange therapy on mortality. Impact: MIS-C is a life-threatening condition.Patients need to be followed up in the intensive care unit.Early detection of factors associated with mortality can improve outcomes.Determining the factors associated with mortality and length of stay will help clinicians in patient management.High D-dimer and CK-MB levels were associated with longer PICU stay, and higher leukocyte counts, ferritin and lactate levels, and mechanical ventilation were associated with mortality in MIS-C patients.We were unable to show any positive effect of therapeutic plasma exchange therapy on mortality.

© 2023, AVES. All rights reserved.Objective: The aim of this study was to compare pre/post-coronavirus disease 2019 pandemic changes in mental health-related visits to the pediatric emergency department. Materials and Methods: We conducted a retrospective analysis of all mental health-related pediatric emergency department visits to a tertiary general hospital between June and September 2019, 2020, and 2021. We described pre/post-coronavirus disease 2019 changes in the use of pediatric emergency departments, such as timing of visits, sex discrepancies, diag-nostic distribution, discharge planning, and others. Results: Compared with the corresponding months before the pandemic (n = 187), mental health-related pediatric emergency department visits decreased by 20.8% in June–September 2020 (n = 148) and increased by 12.2% in 2021 (n = 210). The distributions of age, sex, timing of visits, reasons for presentations, hospitalization, and outpatient clinic appointment rates were not statistically significant between the years. Self-harm in females and aggression/violence in males were the most common reasons for presentation to pediatric emergency departments in each year. In the post-pandemic period, ambulance use and patients referred by other hospitals for psychiatric consultation increased, while the completion time of consultations decreased (P

Aims The study aimed to determine the effect of using a crochet octopus to reduce acute pain and maintain optimal physiological measurements that develops during procedural pain in neonates. Materials and methods This was a parallel design randomized controlled study. During the procedure of heel lance, experimental groups were delivered a crochet octopus 10 min before the process and let them touch the octopus during and for up to 10 min after the procedure. Control group experienced the process without any intervention. SpO2, duration of crying of neonates and pain they experienced were evaluated. Results The study was completed with 100 (50 for the experimental group and 50 for the control group) term neonates. SpO2 of neonates, touching the crochet octopus during and after in second minute of the process was found higher and also the duration of crying was shorter during whole the process, and the pain they experienced due to the process was lower than the control group. Conclusions Crochet octopus affected physiological measurements of the neonates positively and reduced the procedural pain as well.

The quick motor function test (QMFT) is used to evaluate Pompe patients' motor function. This study aims to evaluate the convergent validity and reliability of the cross-culturally adapted Turkish version of QMFT in patients with Duchenne muscular dystrophy (DMD). Twenty-eight patients diagnosed with DMD were included in the study. The QMFT was translated and adapted to Turkish. The functionality of the patients was assessed with the north star ambulatory assessment (NSAA) and the 6-minute walk test (6MWT); muscle strength was evaluated with a hand-held dynamometer. There were two separate practitioners on the first day of the QMFT study; it was applied a second time by the first practitioner 14 days later. The mean age of DMD patients was 9.03 ± 3.39 (minimum 4–maximum 18 . Twenty-seven patients concluded all the necessary assessments. Intrarater reliability of QMFT in patients with DMD was intraclass correlation coefficient (ICC) = 0.98, and interrater reliability ICC = 0.98 was excellent. QMFT correlated very well with 6MWT (r s = 0.86; p

Erken çocukluk gelişimi genetik, sosyal, biyolojik ve çevresel çok çeşitli faktörlerden etkilenir. Annenin ruhsal iyilik hali çocuklarda büyüme ve gelişmeyi etkileyen en önemli etmenlerden biridir. Son yıllarda yapılan araştırmalar, babaların ruh sağlığının da öneminin altını çizmektedir. Ebeveynlerin yaklaşık %18\"i ruhsal bozukluk yaşayabilmektedir. Perinatal depresyon, annelerde %20 sıklıkla, babalarda ise %10 sıklıkla bildirilmiştir. Anne veya babanın depresyon, anksiyete veya stres yaşaması, çocuklarda gelişimsel gecikmeler, büyüme geriliği, bodurluk, duygusal sorunlar ve davranış sorunlarıyla ilişkilendirilmiştir. Çocuklar üzerindeki etkiler henüz bebeklik döneminde ortaya çıkmakta ve adölesan ve erişkin dönemde de devam edebilmektedir. Annede peripartum depresyonun taranması rutin çocukluk çağı izlemlerinin bir parçası olarak önerilmektedir. Yeni araştırmalarla babaların da ruhsal iyilik halinin çocuklar üzerindeki etkileri ortaya konuldukça, babaların da babalığa geçiş sürecinde desteklenmesinin altı çizilmektedir. Çocuk sağlığı uzmanlarının, anne ve babanın ruh sağlığını değerlendirmesi, aile merkezli bütüncül yaklaşımın bir parçası olarak ele alınmalıdır. Numerous factors such as genetic, social, biologic and environmental can impact early childhood development. Maternal mental well-being is one of the most important factors that can affect child growth and development. Almost 18% of the parents experience mental disorders. The prevalence of perinatal depression is 20% in mothers and 10% in fathers. Parental depression, anxiety and stress are associated with developmental problems, failure to thrive, stunting, emotional and behavioral problems in children. These effects can become apparent early in infancy and extend throughout adolescence and adulthood. Screening maternal perinatal depression is recommended in pediatric primary care. As the effects of paternal mental health on child development have been demonstrated with recent findings, supporting the fathers during transition to fatherhood is emphasized. Evaluation of maternal and paternal mental health by child health specialists, should be integrated in well-child visits as part of family centered care.

Objective:The aim of this study was to evaluate the features of asymptomatic siblings of index celiac patients who were diagnosed with celiac disease (CD) at the initial screening.Methods:We reviewed hospital records of 210 children with CD. The characteristics of sibling celiacs (n=24) were compared with index celiacs (n=186).Results:At diagnosis, sibling celiacs were older than index celiacs (mean (SD) 10.4 (2.7) vs 8.2 (4.3) years;P=0.02). There were no significant differences between sibling and index celiacs in terms of serum anti-tTG IgA titer (≥10xULN, 83.3% vs 85%), and most of the patients had moderate/severe villous atrophy in both groups. The rates of iron deficiency anemia, folic acid deficiency, wasting and stunting were comparable between sibling and index celiac patients.Conclusions:Siblings with CD were older than index children with CD at diagnosis, and their characteristics were similar to symptomatic index children with CD, despite not having any complaints.Keywords:Asymptomatic, Serology, Silent disease

© 2022 Wiley Periodicals LLC.Objectives: Postoperative ventilatory strategies in patients with esophageal atresia (EA) and tracheoesophageal fistula (TEF) may have an impact on early postoperative complications. Our national Esophageal Atresia Registry was evaluated to define a possible relationship between the type and duration of respiratory support on postoperative complications and outcome. Study Design: Among the data registered by 31 centers between 2015 and 2021, patients with esophago-esophageal anastomosis (EEA)/tracheoesophageal fistula (TEF) were divided into two groups; invasive ventilatory support (IV) and noninvasive ventilatory support and/or oxygen support (NIV-OS). The demographic findings, gestational age, type of atresia, associated anomalies, and genetic malformations were evaluated. We compared the type of repair, gap length, chest tube insertion, follow-up times, tensioned anastomosis, postoperative complications, esophageal dilatations, respiratory problems requiring treatment after the operation, and mortality rates. Results: Among 650 registered patients, 502 patients with EEA/TEF repair included the study. Four hundred and seventy of patients require IV and 32 of them had NIV-OS treatment. The IV group had lower mean birth weights and higher incidence of respiratory problems when compared to NIV-OS group. Also, NIV-OS group had significantly higher incidence of associated anomalies than IV groups. The rates of postoperative complications and mortality were not different between the IV and NIV-OS groups. Conclusion: We demonstrated that patients who required invasive ventilation had a higher incidence of low birth weight and respiratory morbidity. We found no relation between mode of postoperative ventilation and surgical complications. Randomized controlled trials and clinical guidelines are needed to define the best type of ventilation strategy in children with EA/TEF.

Rationale: Acute kidney injury (AKI) is a frequent complication after liver transplantation. In some patients, prompt intervention targeted at a specific etiology is of paramount importance.Presenting concerns of the patients: A 25 years old man with advanced liver cirrhosis caused by sclerosing cholangitis and autoimmune hepatitis underwent orthotopic liver transplantation. One month after surgery, severe AKI developed in conjunction with recurrent ascites and lower extremity edema. Notable clinical findings included a persistently low urinary sodium excretion, a bland urinary sediment, and an abnormally monophasic hepatic vein waveform on Doppler ultrasound.Diagnoses: Inferior vena cava stenosis.Interventions: Angioplasty with stent installation.Outcomes: Rapid improvement of renal function after stent installation.Lessons learned: The following case illustrates the importance of integrating clinical cues, ultrasound features, and laboratory findings. The combination of AKI associated with lower extremity edema, abnormal monophasic hepatic vein flow on Doppler ultrasound, and a low urinary sodium excretion after liver transplantation should evoke the possibility of inferior vena cava stenosis as the etiologic factor. Fondement: L’insuffisance rénale aiguë (IRA) est une complication survenant fréquemment à la suite d’une greffe hépatique. Pour certains patients, une intervention rapide et ciblée sur l’étiologie spécifique s’avère d’une importance capitale.Présentation du cas: Un homme âgé de 25 ans atteint d’une cirrhose hépatique avancée causée par une cholangite sclérosante et une hépatite auto-immune a subi une greffe hépatique orthotopique. Un mois après l’intervention, le patient a développé une sévère IRA conjointement à des ascites récurrentes et un œdème des membres inférieurs. Parmi les principales manifestations cliniques figuraient la persistance d’une faible excrétion urinaire du sodium, la présence de sédiments urinaires neutres et une forme d’onde anormalement monophasique pour la veine hépatique à l’échographie Doppler.Diagnostic: Sténose de la veine cave inférieureIntervention: Angioplastie avec implantation d’une endoprothèse vasculaireRésultats: Amélioration rapide de la fonction rénale à la suite de l’implantation de l’endoprothèse vasculaireEnseignements tirés: Ce cas illustre l’importance d’intégrer les indicateurs cliniques, les informations obtenues à l’échographie et les résultats de laboratoire. L’IRA survenant à la suite d’une greffe hépatique, lorsqu’elle est associée à de l’œdème des membres inférieurs, à des ondes anormalement monophasiques de la veine hépatique à l’échographie Doppler, de même qu’à une faible excrétion urinaire de sodium, devrait évoquer la possibilité d’une sténose de la veine cave inférieure comme facteur étiologique.

BackgroundThe aim of this study was to evaluate the prevalence of anxiety, depression, sleep, and associated factors in caregivers of children with spinal muscular atrophy (SMA). Materials and MethodsBeck Depression Inventory (BDI), the State-Trait Anxiety Inventory-State (STAI-S), the State-Trait Anxiety Inventory-Trait (STAI-T), and Pittsburgh Sleep Quality Index (PSQI) were used to assess the anxiety, depression, and sleep quality of the caregivers of children with SMA. Higher scores indicated worse outcome for all three questionnaires. ResultsFifty-six caregivers of children with SMA were included in the study. Median age of children was 6 (3.2-10) years and mean age of the caregivers was 37.0 +/- 6.5 years. Median scores of the BDI, STAI-S, STAI-T, and PSQI were 12 (7.2-17), 35.5 (31-44), 40.5 (35-48), and 7.0 (5.0-10.0), respectively. There was a positive correlation between BDI and PSQI scores (p < 0.05). There was a negative correlation between the age of the caregivers and PSQI, BDI, STAI-T scores (p = 0.01, r = -0.341; p = 0.006, r = -0.364; p = 0.003, r = -0.395, respectively). There was a negative correlation between the age of the patients and the PSQI scores of the caregivers (p = 0.01, r = -0.33). There was a negative correlation between BDI scores and household income (p = 0.01, r = -0.34). ConclusionCaregivers of children with SMA had elevated depression and anxiety levels and they also had decreased sleep quality. Economic and social support resources are needed to help caregivers of those children.