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Purpose: To elucidate the clinical significance of sarcopenia in children with neuroblastic tumors (NTs). Methods: We conducted a retrospective observational study and analyzed the z-scores for height, body weight, body mass index, and skeletal muscle index (HT-z, BW-z, BMI-z, and SMI-z) along with the clinical characteristics of 36 children with NTs. SMI-z was calculated from 138 computed tomography scans at diagnosis, during treatment, and at follow-up. The International Neuroblastoma Risk Group classification was used to identify high-risk groups. We analyzed the data at diagnosis for prognostic analysis and changes over time after diagnosis in the HT-z, BW-z, BMI-z, and SMI-z groups. Results: Among the four parameters at diagnosis, only SMI-z predicted overall survival (hazard ratio, 0.58; 95% confidence interval, 0.34–0.99). SMI-z, HT-z, and BW-z significantly decreased over time after diagnosis (P < 0.05), while BMI-z did not (P = 0.11). In surviving high-risk NT cases without disease, SMI-z, HT-z, and BW-z significantly decreased over time (P < 0.05), while BMI-z did not (P = 0.43). Conclusion: In children with NT, the SMI-z at diagnosis was a significant prognostic factor and decreased during treatment and follow-up along with HT-z and BW-z. Monitoring muscle mass is important because sarcopenia may be associated with growth impairment. [ABSTRACT FROM AUTHOR]

Background: Risk factors that directly influence the incidence of stunting are the level of macronutrient and micronutrient intake. Micronutrient deficiencies cause about 1.1 million of the 3.1 million annual child deaths. This condition leads to hidden hunger, a condition of insufficient intake of micronutrients (especially iron, zinc, and iodine deficiencies). This study aimed to analyze hidden hunger in stunted and non-stunting toddlers with a multivariate model. Methods: A comparative cross-sectional study. A total of 71 toddlers were taken as respondents for the stunting group and 71 toddlers for the non-stunting group. The study used data collection was 2 x 24-hour food recall, FFQ, and blood serum collection to check zinc deficiency, iodine, hemoglobin, and urine tests. For data analysis, multivariate logistic regression and then bivariate analysis were used. The regression method used is “backward”. Data was considered statistically significant with a p-value of <0.05. Results: Toddlers with stunting were much more likely to have inadequate iron (92.95%) and zinc intake (91.54%) compared to the non-stunting group (78.87% and 77.46% respectively). A significantly higher proportion of the stunting group (40.84%) had anemia compared to the non-stunting group (5.63%). Unlike iron, zinc, and anemia, there wasn’t a statistically significant relationship between iodine deficiency (p = 0.459) or hidden hunger (p = 0.058) and stunting. The results of the multivariate analysis suggest that iron intake, anemia status, and zinc deficiency are all important risk factors for stunting in toddlers. The anemia status variable was the most dominant cause of stunting because it had the highest OR value of 41.733. Conclusion: Toddlers with stunting are significantly more likely to have inadequate iron and zinc intake and suffer from anemia compared to non-stunted toddlers, with anemia being the most dominant risk factor for stunting, evidenced by the highest OR value of 41.733. [ABSTRACT FROM AUTHOR]

Juvenile Idiopathic Arthritis (JIA) includes a range of inflammatory conditions that exhibit chronic arthritis with various clinical presentations. The disease's heterogeneity leads to different impacts on children's health, both short and long-term. Compromised growth, seen as growth retardation and delayed puberty, is a common complication in children with JIA, severely impacting their quality of life. This impairment is linked to disease duration and activity, with severe cases in systemic and polyarticular subtypes. Literature reports growth retardation incidence from 8% to 41%, but data on pubertal impairment is lacking. Growth in children is influenced by systemic and local mechanisms. Chronic inflammation, prolonged glucocorticosteroid (GCS) use, and nutritional issues contribute to growth stunting and pubertal delays. Chronic inflammation in JIA flattens growth curves, while steroid treatment impairs growth and causes weight gain. Disruption of the GH/IGF1 axis is known, but data on systemic hormonal resistance in JIA are insufficient. Optimizing JIA treatment, including biological therapies, is expected to improve growth velocity and reduce long-term impacts by better disease control and reduced GCS doses. Thyroid function also influences growth and puberty, but comprehensive studies on thyroid involvement in JIA are lacking. Given the early onset of chronic inflammatory consequences, preventive auxological screening measures are necessary for children with JIA. Early detection of developmental disorders can enhance therapeutic management. This article summarizes information from a cohort study on growth in children with JIA and proposes a diagnostic algorithm for clinical use. [ABSTRACT FROM AUTHOR]

Purpose: Long-term outcomes of slide tracheoplasty in patients with congenital tracheal stenosis (CTS) have rarely been reported. This study aimed to clarify the long-term outcomes of CTS after slide tracheoplasty. Methods: The medical records of 33 patients who underwent slide tracheoplasty for CTS at our institution between January 2005 and July 2018, with a follow-up duration > 5 years, were retrospectively reviewed. Patients' characteristics, perioperative condition, operative management, postoperative course, tracheal stenosis rates and growth data, were collected from medical records. Results: The median operative age, minimum tracheal diameter, length of stenosis, duration of hospital stays, and follow-up duration were 8 months, 2.4 mm, 35 mm, 39 days, and 90 months, respectively. One patient died of bleeding in the right lung at 126 months postoperatively. Among the 10 patients requiring postoperative tracheostomy, seven were successfully decannulated at a median of 65 months postoperatively. Tracheal stenosis rates improved postoperatively and were subsequently maintained. Growth impairment and psychomotor delay were observed in 9 and 16 patients, respectively with significant differences found only in cases with genetic abnormalities and not in tracheal stenosis severity. Conclusion: Slide tracheoplasty for CTS leads to favorable long-term outcomes. However, various associated anomalies may influence growth and psychomotor development, emphasizing the importance of adequate support. [ABSTRACT FROM AUTHOR]

There is limited data on hypotheses linking autoimmune thyroid diseases (AITD) and hypothyroidism with pulmonary hypertension (PH). Moreover, the prevalence of this coincidence, as well as the possible common pathogenic mechanisms, are even less explicit in paediatric population. We present a review of recently published articles regarding relatively large cohorts of children with PH, coming from paediatric PH registries, aiming to clarify the coincidence of PH and AITD, especially hypothyroidism, and discuss its possible mutual impact. Although thyroid disorders have been excluded from the latest PH classification, it is still important to remember the possibility of this coincidence as it may significantly influence patients' clinical outcome. Moreover, children with PH may need multidisciplinary care due to the relatively frequent coexistence with not only hormonal abnormalities but also growth impairment, genetic disorders, and mental delay. Further specific paediatric studies are needed to improve the care in this rare disease, especially in patients with other comorbidities present. [ABSTRACT FROM AUTHOR]

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Purpose: To elucidate the clinical significance of sarcopenia in children with neuroblastic tumors (NTs). Methods: We conducted a retrospective observational study and analyzed the z-scores for height, body weight, body mass index, and skeletal muscle index (HT-z, BW-z, BMI-z, and SMI-z) along with the clinical characteristics of 36 children with NTs. SMI-z was calculated from 138 computed tomography scans at diagnosis, during treatment, and at follow-up. The International Neuroblastoma Risk Group classification was used to identify high-risk groups. We analyzed the data at diagnosis for prognostic analysis and changes over time after diagnosis in the HT-z, BW-z, BMI-z, and SMI-z groups. Results: Among the four parameters at diagnosis, only SMI-z predicted overall survival (hazard ratio, 0.58; 95% confidence interval, 0.34–0.99). SMI-z, HT-z, and BW-z significantly decreased over time after diagnosis (P < 0.05), while BMI-z did not (P = 0.11). In surviving high-risk NT cases without disease, SMI-z, HT-z, and BW-z significantly decreased over time (P < 0.05), while BMI-z did not (P = 0.43). Conclusion: In children with NT, the SMI-z at diagnosis was a significant prognostic factor and decreased during treatment and follow-up along with HT-z and BW-z. Monitoring muscle mass is important because sarcopenia may be associated with growth impairment. [ABSTRACT FROM AUTHOR]

Purpose: Long-term outcomes of slide tracheoplasty in patients with congenital tracheal stenosis (CTS) have rarely been reported. This study aimed to clarify the long-term outcomes of CTS after slide tracheoplasty. Methods: The medical records of 33 patients who underwent slide tracheoplasty for CTS at our institution between January 2005 and July 2018, with a follow-up duration > 5 years, were retrospectively reviewed. Patients' characteristics, perioperative condition, operative management, postoperative course, tracheal stenosis rates and growth data, were collected from medical records. Results: The median operative age, minimum tracheal diameter, length of stenosis, duration of hospital stays, and follow-up duration were 8 months, 2.4 mm, 35 mm, 39 days, and 90 months, respectively. One patient died of bleeding in the right lung at 126 months postoperatively. Among the 10 patients requiring postoperative tracheostomy, seven were successfully decannulated at a median of 65 months postoperatively. Tracheal stenosis rates improved postoperatively and were subsequently maintained. Growth impairment and psychomotor delay were observed in 9 and 16 patients, respectively with significant differences found only in cases with genetic abnormalities and not in tracheal stenosis severity. Conclusion: Slide tracheoplasty for CTS leads to favorable long-term outcomes. However, various associated anomalies may influence growth and psychomotor development, emphasizing the importance of adequate support. [ABSTRACT FROM AUTHOR]

Background: Aflatoxins are regarded as the most potent genotoxic and carcinogenic type of mycotoxins. This meta-analysis was performed to investigate a the relation of aflatoxin B1 (AFB1) to growth measurements of infants/children, including wasting, underweight, stunting, as well as weight-for-age (WAZ), height-for-age (HAZ), and weight-for-height (WHZ) z-scores. Methods: Electronic databases of PubMed, Web of Science, and Scopus were searched to identify related publications. Effect sizes for associations were pooled using the random effects analysis. Subgroup analysis by study design, method used to assess AFB1, and adjustment for covariateswas performed to detect possible sources of heterogeneity. Results: Pooled analysis of available data showed that AFB1 exposure was negatively associated growth z-scores, including WHZ (β = -0.02, 95%CI = -0.07 to 0.03), with WAZ (β = -0.18, 95%CI = -0.33 to -0.02), and HAZ (β = -0.17, 95%CI = -0.30 to -0.03) in infants/children. There was a remarkable heterogeneity among studies on WAZ and HAZ (P ≤ 0.001). In prospective cohort studies, AFB1 exposure was found to be significantly associated with the elevated risk of underweight (OR = 1.20, 95%CI = 1.03 to 1.40) and stunting (OR = 1.21, 95%CI = 1.11 to 1.33). Conclusions: This meta-analysis highlighted the importance of AFB1 exposure as a potential risk factor for growth impairment in infants/children. [ABSTRACT FROM AUTHOR]

Background: Childhood stunting is one of our community's most prevalent public health nutrition problems. Many factors may lead to the development of stunning. Growth hormones and diet might play a role in the treatment. This study aims to investigate the effect of nutritional status on the growth rate among children with short stature who underwent growth hormone therapy the previous year. Methods: A one-year retrospective, cross-sectional study was carried out among 4-10-year-old children with stunting. Laboratory tests, anthropometric measurements, and dietary intake were measured at the start of the research and one year after the application of growth hormone therapy. Results: A significantly higher growth rate was observed among males than females (P = 0.040). Also, males had significantly higher calorie intake (P). This study found that the patients had a less than 8.5% difference in energy intake vs. total energy requirement. There is a significant association between food consumption from two food groups (milk and meat) (P = 0.04 and 0.021, respectively. Conclusion: Diet plays a significant role in the improvement of growth velocity. [ABSTRACT FROM AUTHOR]

X-linked hypophosphatemia (XLH) is a rare type of hereditary hypophosphatemic rickets. Patients with XLH have various symptoms that lower their QOL as defined by HAQ, RAPID3, SF36-PCS, and SF36-MCS in adult patients and SF-10 and PDCOI in pediatric patients. Early diagnosis and treatment are needed to reduce the burden, but the condition is often diagnosed late in childhood. The present review aims to summarize the symptoms, radiological and biological characteristics, and long-term prognosis of pediatric XLH. Typical symptoms of XLH are lower leg deformities (age six months or later), growth impairment (first year of life or later), and delayed gross motor development with progressive lower limb deformities (second year of life or later). Other symptoms include dental abscess, bone pain, hearing impairment, and Chiari type 1 malformation. Critical, radiological findings of rickets are metaphyseal widening, cupping, and fraying, which tend to occur in the load-bearing bones. The Rickets Severity Score, validated for XLH, is useful for assessing the severity of rickets. The biochemical features of XLH include elevated FGF23, hypophosphatemia, low 1,25(OH)2D, and elevated urine phosphate. Renal phosphate wasting can be assessed using the tubular maximum reabsorption of phosphate per glomerular filtration rate (TmP/GFR), which yields low values in patients with XLH. XLH should be diagnosed early because the multisystem symptoms often worsen over time. The present review aims to help physicians diagnose XLH at an early stage. [ABSTRACT FROM AUTHOR]

The biological meaning of the parameters a and b of the empirical and in fisheries science and management omnipresent relationship Weight = a * Length b is still unclear; the depicting body size trajectory has been associated thus far with body form and with food/energy considerations. When I analyzed a 116 species large and 36 years long subset of the port biosampling program of the US Virgin Islands fishery, Eastern Caribbean, using regression prediction intervals and fish life traits, I found out that the power law model is not a perfect fit due to individual variation. Concurrent stunting and starvation are generated at marginal values of the a and b parameters; their frequency is independent of fish body form and habitat type; dependent on species, trophic level and life stage; and changes the fundamental fish body size growth model from (log transformed) linear to curvilinear for three demo species. Also, variation in the parameter b could not be explained by trophic level, body form or habitat type. An alternative explanation is proposed, where b is the "accelerator" and a is the "break"; it expresses the correspondence of fish condition to environmental condition. [ABSTRACT FROM AUTHOR]

Purpose: This study aimed to evaluate the clinical features, prognostic factors, and survival outcomes for patients with intracranial nongerminomatous germ cell tumors (NGGCTs), with a particular focus on treatment toxicity for long-term survivors. Methods: Intracranial NGGCTs treated with platinum-based chemotherapy and craniospinal irradiation (CSI) in our institution were retrospectively analyzed. Hematological complications following sequential chemoradiotherapy as well as height and weight in childhood survivors were evaluated. Plasma growth hormone (GH) concentrations prior to and after radiotherapy were obtained for the comparisons. Results: A total of 111 intracranial NGGCTs were included. The 3‑year overall survival (OS) and event-free survival (EFS) rates were 83.5% ± 3.9% and 71.0% ± 4.8%, respectively. A combined treatment modality consisting of ≥ 4 cycles of platinum-based chemotherapy and CSI was associated with an improved OS (P = 0.003) and EFS (P < 0.001). Thrombocytopenia of any grade occurred in 35.4% (34/96) of patients, and the threshold age for an increased risk of thrombocytopenia was 14 years (area under the curve AUC = 0.752, P < 0.0001) as derived from receiver operating characteristic (ROC) analysis. Growth impediment was found in 8 of 56 (14%) patients. The age for receiving radiotherapy was found to inversely correlate with height development, revealing a cut-off age of 11.5 years for risking growth impairment (AUC = 0.806, P = 0.004). Consistently, a significant decline in plasma growth hormone after radiotherapy was observed in patients ≤ 11.5 years (P < 0.01) but not patients > 11.5 years. (P > 0.05). Conclusion: Our study suggested that a combined treatment modality with at least four cycles of chemotherapy and CSI was safe and effective for patients with intracranial NGGCTs. Radiotherapy should be used with caution for patients < 11.5 years due to growth impairment. [ABSTRACT FROM AUTHOR]

Background: Growth impairment is the most common complication in patients with childhood-onset systemic lupus erythematosus (cSLE). There are limited data on risk factors affecting growth development in Asian patients with cSLE. This study aimed to determine the predictors of growth impairment in such patients. Methods: All SLE patients aged < 15 years diagnosed in Ramathibodi Hospital between 2006 and 2016 were enrolled in a retrospective cohort study. Baseline characteristics, including height, weight, clinical manifestations, disease activity score, and medications, were reviewed from medical records from the time at diagnosis to achievement of final adult height (FAH). Age at menarche in girls, adult voice appearance in boys, and parental height were collected by interview. Parent-adjusted FAH (PaFAH) Z-score was calculated as the difference between FAH Z-score for chronological age of the patients and their mid parental height-Z score. The patients were classified into two groups: (1) normal growth (PaFAH Z-score ≥ − 1.5, 2) growth impairment (PaFAH Z-score < − 1.5). Descriptive statistics and logistic regression analysis were used to analyze the data. Results: Of 106 cSLE patients, 19 (18%) were male and 87 (82%) were female. The mean age at study enrollment was 20.6 ± 3.0 years, mean age at diagnosis 12.1 ± 2.3 years, and mean age at achievement of FAH 17.5 ± 1.9 years. Growth impairment was found in 23.6% of patients (52.6% in boys and 17.2% in girls). Predictors of growth impairment were male sex, duration of disease before menarche in girls and adult voice appearance in boys, and cumulative corticosteroid dose (prednisolone equivalent) ≥230 mg/kg received before the late phase of puberty, with odds ratios of 7.07 (95%CI 2.11–23.74), 1.26 (95% CI 1.02–1.56), and 6.99 (95%CI 1.63–30.02), respectively. Conclusions: One-fourth of cSLE patients developed growth impairment, which mostly affected male patients. Longer duration of disease before the late phase of puberty and corticosteroid dose ≥230 mg/kg received before the late phase of puberty were factors predictive of growth impairment. [ABSTRACT FROM AUTHOR]

Background: Dubowitz syndrome (DS) is a complex and rare condition characterized by postnatal growth retardation, microcephaly, short stature, mild developmental delay, facial dysmorphism, skin eruption and bone marrow failure. Though approximately 200 cases have been described so far, no specific genetic analysis, laboratory tests or radiological exams are available to confirm the diagnosis which is still based on clinical and facial features. Although short stature is a major feature of the syndrome, no endocrine alterations have been reported so far and scant data are available about the efficacy and safety of GH treatment in these patients. Methods: A 13‐year‐old male patient was referred to our attention for short stature. Endocrinological evaluation including GH axis, adrenal and gonadal functions were assessed. aCGH was performed. Results: 14q terminal microdeletion associated with Dubowitz phenotype was found. Endocrinological investigations revealed the presence of hypopituitarism which showed a satisfactory response to short‐term growth hormone therapy. The subject also started glucocorticoid replacement therapy. Disorders in pubertal progression and gonadal function were noted. Conclusions: Dubowitz syndrome (DS) includes different clinical findings variably occurring. Subjects with a Dubowitz phenotype should be carefully monitored for endocrinological anomalies. The prompt recognition of potential life‐threatening endocrinological condition for example adrenal insufficiency is mandatory in order to start an adequate and early treatment. [ABSTRACT FROM AUTHOR]

Background: Growth hormone(GH) and epidermal growth factor (EGF) stimulate cell growth and differentiation, and crosstalking between their signaling pathways is important for normal cellular development. Growth hormone transduction defect (GHTD) is characterized by excessive GH receptor (GHR) degradation, due to over-expression of the E3 ubiquitin ligase, cytokine inducible SH2-containing protein (CIS). GH induction of GHTD fibroblasts after silencing of messenger RNA (mRNA) CIS (siCIS) or with higher doses of GH restores normal GH signaling. β-Transducing-repeat-containing protein (β-TrCP), another E3 ubiquitin ligase, also plays a role in GHR endocytosis. We studied the role of β-TrCP in the regulation of the GH/GHR and EGF/EGF receptor (EGFR) pathways in normal and GHTD fibroblasts. Materials and methods: Fibroblast cultures were developed from gingival biopsies of a GHTD (P) and a control child (C). Protein expression and cellular localization of β-TrCP were studied by Western immunoblotting and immunofluorescence, respectively, after: (1) GH 200 μg/L human GH (hGH) induction, either with or without silence CIS (siCIS), and (2) inductions with 200 μg/L GH or 1000 μg/L GH or 50 ng/mL EGF. Results: After induction with: (1) GH200/siCIS, the protein expression and cytoplasmic-membrane localization of β-TrCP were increased in the patient, (2) GH200 in the control and GH1000 in the patient, the protein and cytoplasmic-membrane localization of β-TrCP were increased and (3) EGF, the protein expression and cytoplasmic-membrane localization of β-TrCP were increased in both the control and the patient. Conclusions: (1) β-TrCP appears to be part of the negative regulatory mechanism of the GH/GHR and EGF/EGFR pathways. (2) There appears to be a negative correlation between β-TrCP and CIS. (3) In the control and GHTD patient, β-TrCP increases when CIS is suppressed, possibly as a compensatory inhibitor of the GH/GHR pathway. [ABSTRACT FROM AUTHOR]

In recent years, an aberrant gastrointestinal colonization has been found to be associated with an higher risk for postnatal sepsis, necrotizing enterocolitis (NEC) and growth impairment in preterm infants. As a consequence, the reasons of intestinal dysbiosis in this population of newborns have increasingly become an object of interest. The presence of a link between the gut and lung microbiome's development (gut-lung axis) is emerging, and more data show as a gut-brain cross talking mediated by an inflammatory milieu, may affect the immunity system and influence neonatal outcomes. A revision of the studies which examined gut and lung microbiota in preterm infants and a qualitative analysis of data about characteristic patterns and related outcomes in terms of risk of growing impairment, Necrotizing Enterocolitis (NEC), Bronchopulmonary Dysplasia (BPD), and sepsis have been performed. Microbiota take part in the establishment of the gut barrier and many data suggest its immune-modulator role. Furthermore, the development of the gut and lung microbiome (gut-lung axis) appear to be connected and able to lead to abnormal inflammatory responses which have a key role in the pathogenesis of BPD. Dysbiosis and the gut predominance of facultative anaerobes appear to be crucial to the pathogenesis and subsequently to the prevention of such diseases. [ABSTRACT FROM AUTHOR]

Background: Growth disturbance is a common phenomenon in children with congenital heart diseases (CHD). Malnutrition and nutritional disturbances have a higher prevalence among children with down syndrome, especially children with Down syndrome; on the other hand, the prevalence of CHD is higher among syndromic children, which needs surgical repair as the definitive treatment. The nutritional status plays an important role in determining the postoperative complications and recovery. The purpose of this study was to investigate the growth status of children with Down syndrome and congenital heart disease before cardiac surgery. Methods: This study was conducted as a retrospective study by evaluating the records of all syndromic patients undergoing cardiac surgery at Children’s Medical Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran, from March 2011 to March 2017. Age, weight, height, weight-for-age z-score (WAZ), weight-for-height zscore (WHZ), height-for-age z-score (HAZ), mortality and hospitalization rate in an intensive care unit (ICU) were recorded in these patients. The z-scores more than -1 were considered as normal, between -1 and -2 as mild malnutrition, between -2 and -3 as moderate malnutrition and below -3 as severe malnutrition. Results: 35 (51.5%) patients were female and 33 (48.5%) were male. The mean age, weight, and height of these children were 26.9±24.9 months, 9.1±4.95 kg, and 79.55±17.95 cm, respectively. The mean of WHZ, WAZ, and HAZ in these children was -2.18+1.65, -1.95+2.25 and -1.22+3.11, respectively. Based on the values of WAZ, WHZ, and HAZ, 85.3%, 77.9% and 75% of patients have malnutrition (mild to severe forms, z-score less than -1). The most common cardiac defect was ventricular septal defect (VSD) accompanied by pulmonary arterial hypertension. Conclusion: Considering the high prevalence of impaired nutritional status in these children and considering the effect of preoperative malnutrition on surgical outcomes, including mortality, assessing the nutritional status is much important. The adequate nutritional support in these patients leads to a reduction of the mortality, postoperative complications and morbidities. [ABSTRACT FROM AUTHOR]

Background: The anatomical defect of the oral cavity in children with orofacial clefts presents them with feeding challenges which increase their risk of becoming malnourished. The objective of this review was to investigate the extent of malnutrition among children under 5 years with unrepaired cleft of the lip and/or palate. Materials and Methods: A systematic literature search of published articles that assessed malnutrition in children with unrepaired cleft lip and/or palate was conducted. Pubmed Central, Cochrane library, Pubmed (MEDLINE) and Google Scholar databases were searched. Result: A total of 4,489 papers were found of which 8 were included in the review after meeting the inclusion criteria. Malnutrition was found to be higher in isolated cleft palate and cleft lip and palate infants than in isolated cleft lip infants who had nutritional status close to that of non-cleft infants. Syndromic cleft infants were highly malnourished compared to nonsyndromic infants. Weight-for-age was the most assessed anthropometric indicator of nutritional status. Average prevalence of underweight (low weight-for-age) was 21.5%. Conclusion: Malnutrition is high especially within the first year of life in infants with unrepaired cleft lip and/or palate. [ABSTRACT FROM AUTHOR]

The most fundamental characteristics of a child are growth and development. Under normal circumstances growth follows a pattern that can be predicted. As a pediatrician we have to distinguish between normal and abnormal growth and recognize a normal variation from a pathological condition. Thorough height measurements performed every 6 months and plotted on the reference growth curve is the simplest and low-cost tool to detect an abnormal growth. Simple guideline is proposed to manage a child with short stature. [ABSTRACT FROM AUTHOR]

Growth impairment together with bone and joint involvement is common to most patients with mucopolysaccharidosis (MPS) disorders. The genetic basis for these metabolic disorders involves various enzyme deficiencies responsible for the catabolism of glycosaminoglycans (GAGs). The incomplete degradation and subsequent accumulation of GAGs result in progressive tissue damage throughout the body. Bone ossification is particularly affected, with the consequent onset of dysostosis multiplex which is the underlying cause of short stature. Joint manifestations, whether joint contractures (MPS I, II, VI, VII) or hyperlaxity (MPS IV), affect fine motor skills and quality of life. Subtle decreases in growth velocity can begin as early as 2-4 years of age. Pediatricians are in the front line to recognize or suspect MPS. However, given the rarity of the disorders and variable ages of symptom onset depending on disease severity, recognition and diagnostic delays remain a challenge, especially for the attenuated forms. Prompt diagnosis and treatment can prevent irreversible disease outcomes.Conclusion: We present a diagnostic algorithm based on growth velocity decline and bone and joint involvement designed to help pediatricians recognize early manifestations of attenuated forms of MPS. We illustrate the paper with examples of abnormal growth curves and subtle radiographic nuances. What is Known: • As mucopolysaccharidoses (MPSs) are rare genetic disorders infrequently seen in clinical practice, there can be a lag between symptom onset and diagnosis, especially of attenuated forms of the disease. • This highlights the need for increased disease awareness to recognize early clinical signs and subsequently initiate early treatment to improve outcomes (normal height potential) and possibly prevent or delay the development of irreversible disease manifestations. What is New: • Growth impairment co-presenting with limited range of joint motion and radiographic anomalies in children should raise suspicions of possible attenuated MPS (AMPS). • Experts present a diagnostic algorithm with detailed focus on the decline in growth velocity, delayed puberty and limitation in joint mobility seen in children with AMPS, to shorten time-to-diagnosis and treatment and potentially improve patient outcome. [ABSTRACT FROM AUTHOR]

Fumonisins are mycotoxins produced primarily by the fungi Fusarium verticillioides and F. proliferatum, which colonize maize in tropical, subtropical, and temperate climates worldwide. Fumonisin exposure is the highest in rural populations that consume large amounts of maize and maize products. Among them, infants and young children are the most vulnerable when they are weaned onto maize‐based foods. Therefore, it is critical to understand the impact of fumonisin on children's health and growth. This review describes the evidence linking fumonisin exposure to child growth impairment. First, toxicological studies that attempt to elucidate the mechanism by which fumonisin may impair growth are discussed. Next, a description is given of candidate biomarkers for accurately capturing fumonisin exposure in humans. Potential human health effects of fumonisin exposure beyond growth impairment, including esophageal cancer and neural tube defects (NTDs), are briefly described. We review epidemiological studies that collectively show an increasing weight of evidence linking fumonisin exposure to growth impairment, particularly in world regions where young children consume maize‐based weaning foods. Additionally, the evidence linking fumonisin exposure to growth impairment in plants and a variety of animal species are reviewed. Finally, we describe interventions to reduce fumonisin in parts of the world where dietary fumonisin exposure is high and is likely to predispose populations to increased health risk. [ABSTRACT FROM AUTHOR]

Growth impairment (GI) is one of the adverse effects of dexamethasone (DXM), and growth hormone (GH) has been used clinically to improve GI. The present study aimed to evaluate the manner in which DXM disturbs the growth rate of longitudinal bones, and the recovery effects of GH on DXM-induced GI in the longitudinal bones of adolescent male rats. In the first experiment, DXM (0, 0.5, 1, 2 and 5 mg/kg) was administered subcutaneously to identify a potential dose-dependent activity and calculate the median effective dose (ED50) of DXM-induced GI. The ED50 was identified to be 1.15 mg/kg. In the second experiment, GH (0, 2.5, 5 and 10 mg/kg) with 1.15 mg/kg DXM was injected subcutaneously to assess the recovery effects of GH on DXM-induced GI. The growth rates of the longitudinal bones, total height of the growth plate, local mRNA expressions of insulin-like growth factor 1 (IGF-1), GH receptor (GHR) and IGF-1 receptor (IGF-1R), and local protein expression of IGF-1 were measured to evaluate the recovery effects of GH on DXM-induced GI. The local expressions of IGF-1, GHR and IGF-1R mRNA, and IGF-1 protein were measured using quantitative polymerase chain reaction following laser microdissection and antigen-specific immunohistochemistry, respectively. GH administration partially recovered DXM-induced GI in the longitudinal bones and growth plate. GH significantly increased the levels of IGF-1, GHR and IGF-1R mRNA in the proliferative zone of the control group (P<0.05), whereas it failed to increase them in the proliferative zone of the DXM-treated group. Furthermore, GH increased the levels of IGF-1, GHR and IGF-1R mRNA in the hypertrophic zone of both the vehicle and DXM-treated groups (P<0.05). Immunohistochemical analysis of IGF-1 protein expression revealed a similar pattern to that of IGF-1 mRNA. These results suggest that increased GH insensitivity in the proliferative zone of the growth plate, induced by DXM, leads to GI in longitudinal bones. Thus, combined administration of GH with GH insensitivity-alleviating medications may be more effective in the treatment of DXM-induced GI. [ABSTRACT FROM AUTHOR]

Growth retardation is a major manifestation of chronic kidney disease (CKD) in pediatric patients. The involvement of the various pathogenic factors is difficult to evaluate in clinical studies. Here, we present an experimental model of adenine-induced CKD for the study of growth failure. Three groups (n = 10) of weaning female rats were studied: normal diet (control), 0.5% adenine diet (AD), and normal diet pair fed with AD (PF). After 21 days, serum urea nitrogen, creatinine, parathyroid hormone (PTH), weight and length gains, femur osseous front advance as an index of longitudinal growth rate, growth plate histomorphometry, chondrocyte proliferative activity, bone structure, aorta calcifications, and kidney histology were analyzed. Results are means ± SE. AD rats developed renal failure (serum urea nitrogen: 70 ± 6 mg/dl and creatinine: 0.6 ± 0.1 mg/dl) and secondary hyperparathyroidism (PTH: 480 ± 31 pg/ml). Growth retardation of AD rats was demonstrated by lower weight (AD rats: 63.3 ± 4.8 g, control rats: 112.6 ± 4.7 g, and PF rats: 60.0 ± 3.8 g) and length (AD rats: 7.2 ± 0.2 cm, control rats: 11.1 ± 0.3 cm, and PF rats: 8.1 ± 0.3 cm) gains as well as lower osseous front advances (AD rats: 141 ± 13 μm/day, control rats: 293 ± 16 m/day, and PF rats: 251 ± 10 μm/day). The processes of chondrocyte maturation and proliferation were impaired in AD rats, as shown by lower growth plate terminal chondrocyte height (21.7 ± 2.3 vs. 26.2 ± 1.9 and 23.9 ± 1.3 μm in control and PF rats) and proliferative activity index (AD rats: 30 ± 2%, control rats: 38 ± 2%, and PF rats: 42 ± 3%). The bone primary spongiosa structure of AD rats was markedly disorganized. In conclusion, adenine-induced CKD in young rats is associated with growth retardation and disturbed endochondral ossification. This animal protocol may be a useful new experimental model to study growth in CKD. [ABSTRACT FROM AUTHOR]

Background: The 4H syndrome (hypomyelination, hypodontia, hypogonadotropic hypogonadism) is a newly recognized leukodystrophy. The classical form is characterized by the association of hypomyelination, abnormal dentition, and hypogonadotropic hypogonadism, but the recent identification of two genes (POLR3A and POLR3B) responsible for the syndrome demonstrates that these three main characteristics can be variably combined among "Pol-III (polymerase III)-related leukodystrophies". Case presentation: We report on the clinical, neuroradiological and endocrinological follow-up of a male affected by 4H syndrome with confirmed POLR3B mutations (c.1568 T > A/p.V523E variant in exon 15 and the novel c.1988C > T/p.T663I mutation in exon 19). Spastic-ataxic gait with worsening of motor performance, progressive moderate intellectual disability and language difficulties were the main neurological findings observed. The first six years of substantial stability of the clinical and imaging features were followed by additional six years that showed a progressive worsening of motor, language and learning disabilities in relation to a progression of the cerebellar involvement. Hypogonadotropic hypogonadism and growth hormone deficiency followed by central hypocortisolism became part of the patient's phenotype. Thyroid function resulted unaffected during follow up. Conclusions: A novel mutation in POLR3B in a patient with an analogue phenotype than those previously described but with more extensive endocrinological features, including hypogonadotropic hypogonadism, growth hormone deficiency and hypocortisolism, was described. These findings permit to better define the clinical spectrum of the disease, to direct specific genetic tests and to tailor clinical management. [ABSTRACT FROM AUTHOR]

Background: The 4H syndrome (hypomyelination, hypodontia, hypogonadotropic hypogonadism) is a newly recognized leukodystrophy. The classical form is characterized by the association of hypomyelination, abnormal dentition, and hypogonadotropic hypogonadism, but the recent identification of two genes (POLR3A and POLR3B) responsible for the syndrome demonstrates that these three main characteristics can be variably combined among “Pol-III (polymerase III)-related leukodystrophies.” Case presentation: We report on the clinical, neuroradiological and endocrinological follow-up of a male affected by 4H syndrome with confirmed POLR3B mutations (c.1568 T > A/p.V523E variant in exon 15 and the novel c.1988C > T/p.T663I mutation in exon 19). Spastic-ataxic gait with worsening of motor performance, progressive moderate intellectual disability and language difficulties were the main neurological findings observed. The first six years of substantial stability of the clinical and imaging features were followed by additional six years that showed a progressive worsening of motor, language and learning disabilities in relation to a progression of the cerebellar involvement. Hypogonadotropic hypogonadism and growth hormone deficiency followed by central hypocortisolism became part of the patient’s phenotype. Thyroid function resulted unaffected during follow up. Conclusions: A novel mutation in POLR3B in a patient with an analogue phenotype than those previously described but with more extensive endocrinological features, including hypogonadotropic hypogonadism, growth hormone deficiency and hypocortisolism, was described. These findings permit to better define the clinical spectrum of the disease, to direct specific genetic tests and to tailor clinical management. [ABSTRACT FROM AUTHOR]

Objective. Childhood onset Crohn's disease (CD) is considered more aggressive than adult onset disease. Epithelioid cell granulomas in intestinal biopsies are one, non-obligate, criterion of CD. We investigated granulomas as markers of CD severity in children followed to adulthood. Material and methods. Forty -five individuals with childhood onset CD were studied from diagnosis until attainment of final height, with data on disease location, medical and surgical management and with detailed growth data analyses. A blinded review of diagnostic biopsies was also performed. Results. We found granulomas in 22/45 (49%) children at diagnosis, altogether in 28/45 (62%) patients during the disease course (median overall follow-up - 12.3 years, range 9.3-18). Granulomas were found in 9/11 (82%) with upper gastrointestinal involvement (cumulatively 17/20, 85%) ( p = 0.017 and p = 0.006, respectively). The time from diagnosis to initiating immune modulating treatment (median 4.5 months, range 0-75) was shorter in the granuloma-positive group (16/22) compared to the granuloma-negative group (18/23) (median 33 months, range 2-105; p = 0.01). The median standard deviation score height at diagnosis and final adult height (both adjusted for target height) did not correlate to findings of granulomas. Conclusions. Epithelioid cell granulomas were associated with a shorter time to initiating immune modulating drugs, as a possible sign of more severe disease, but growth was not affected. [ABSTRACT FROM AUTHOR]

Background. The safety and efficacy of tocilizumab (TCZ), an anti-IL-6 receptor monoclonal antibody, have been reported in the treatment of children with systemic juvenile idiopathic arthritis (sJIA). Objectives. Growth of children during the TCZ study was analyzed. Methods. Forty-five sJIA patients (8.1 ± 4.2 years) were enrolled. Mean standard deviation score (SDS) for height (HTSDS), height velocity (HVSDS) and changes in SDS from baseline (∆SDS) were determined. Correlation between ∆SDS and several factors such as age, disease duration and corticosteroid exposure were evaluated. Yearly height velocity was analyzed for 28 patients for whom we had data for 1 year prior to TCZ administration and who had received TCZ for more than 1 year. Results. Of the 45 patients, 38 (84%) obtained a clinical response at week 144. The mean baseline HTSDS was − 2.7 ± 2.0 and inversely correlated with disease duration. Significant improvement was seen in change in HVSDS from 1 year prior to 1 year after baseline (− 6.0 ± 4.0 to − 2.5 ± 3.9, p = 0.0064). Reduction in corticosteroid exposure was significantly associated with improvement in HVSDS ( p = 0.0027). Conclusions. Growth impairment evidenced by HTSDS was more prominent in patients with longer standing disease. Catch-up growth was observed in patients who required less or no corticosteroid during TCZ treatment. [ABSTRACT FROM AUTHOR]

Human growth hormone (GH) causes a variety of physiological and metabolic effects in humans and plays a pivotal role in postnatal growth. In somatotroph cells of the anterior pituitary, GH is stored in concentrated forms in secretory granules to be rapidly released upon GH-releasing hormone stimulation. During the process of secretory granule biogenesis, self-association of GH occurs in the compartments of the early secretory pathway (endoplasmic reticulum and Golgi complex). Since this process is greatly facilitated by the presence of zinc ions, it is of importance to understand the potential role of zinc transporters that participate in the fine-tuning of zinc homeostasis and dynamics, particularly in the early secretory pathway. Thus, the role of zinc transporters in supplying the secretory pathway with the sufficient amount of zinc required for the biogenesis of GH-containing secretory granules is essential for normal secretion. This report, illustrated by a clinical case report on transient neonatal zinc deficiency, focuses on the role of zinc in GH storage in the secretory granules and highlights the role of specific zinc transporters in the early secretory pathway. © 2013 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Aflatoxins, fungal toxins produced by Aspergillus flavus and Aspergillus parasiticus in a variety of food crops, are well known as potent human hepatocarcinogens. Relatively less highlighted in the literature is the association between aflatoxin and growth impairment in children. Foodborne aflatoxin exposure, especially through maize and groundnuts, is common in much of Africa and Asia-areas where childhood stunting and underweight are also common, due to a variety of possibly interacting factors such as enteric diseases, socioeconomic status, and suboptimal nutrition. The effects of aflatoxin on growth impairment in animals and human children are reviewed, including studies that assess aflatoxin exposure in utero and through breastfeeding. Childhood weaning diets in various regions of the world are briefly discussed. This review suggests that aflatoxin exposure and its association with growth impairment in children could contribute a significant public health burden in less developed countries. [ABSTRACT FROM AUTHOR]

Background: Helicobacter pylori (H. pylori) has been recognized as one of the most common chronic bacterial infections in the world. Most children are colonized in early childhood, and the infection will last a lifetime unless the child is treated with appropriate antibiotics.Aim: To evaluate whether H. pylori infection has an influence on growth and whether the severity of endoscopic findings relates to the growth impairment.Methods: We formed four groups based on the presence or absence of H. pylori infection and gastrointestinal complaints as follows: group I: RAP +/H. pylori+; group II: RAP +/H. pylori-; group III: RAP -/H. pylori+; group IV: RAP -/H. pylori-. The relationship between endoscopic appearances, histological severity of gastritis, and antral H. pylori density with growth parameters was evaluated.Results: The BMI standard derivation scores of groups I and II were significantly lower than those of asymptomatic controls independent of their H. pylori status. A significant difference in height for age standard derivation scores was observed only between groups I and IV. When we compared the BMI and height for age standard derivation scores of group III and group IV combined with that of the endoscopically normal children in the recurrent abdominal pain group, there was no significant difference between the two groups.Conclusion: Recurrent abdominal pain associated with gastric mucosal injury plays a role in a decrease in BMI independent of H. pylori infection. However, if recurrent abdominal pain originates from H. pylori infection, it appears that linear growth is also affected. [ABSTRACT FROM AUTHOR]

Background/Aim: Linear growth impairment (LGI) is one of the most important features peculiar to children with inflammatory bowel disease (IBD). The aim of this report is to define the impact of IBD on the linear growth of children in the Kingdom of Saudi Arabia (KSA). Setting and Design: Multicenter retrospective study. Patients and Methods: Data from a cohort of newly- diagnosed children with IBD from 2003 to 2012 were analyzed retrospectively. The diagnosis of IBD was confirmed in accordance with the published criteria. Length/height for age was measured at diagnosis. The World Health Organization (WHO) reference was used and LGI was defined by length/height for age <-2 standard deviation. Chi-square test was used to test the significance of estimates and a P < 0.05 was considered significant. Results: There were 374 children from 0.33 to 16 years of age, including 119 ulcerative colitis (UC) (32%), and 255 Crohn's disease (CD) (68%) patients. The prevalence of LGI was 26%, 28%, and 21% in IBD, CD, and UC, respectively. In children below 10 years, LGI was significantly more common in CD (P = 0.010), while in UC children, it was more common in older children (P = 0.011). Conclusion: This study demonstrates a prevalence of LGI consistent with that reported in the literature, but higher in CD children with early onset (<10 years) and in older children with UC, underscoring the importance of monitoring growth in children with IBD in the Saudi population. Prospective studies are needed to define the impact of IBD on growth velocity, puberty, and final adult stature. [ABSTRACT FROM AUTHOR]

In this study, we determined serum cartilage oligomeric matrix protein (COMP) levels in systemic juvenile idiopathic arthritis (sJIA) patients during both the active and the remission phases to investigate how the growth cartilage turnover changed under tocilizumab treatment. Specimens were collected from 201 healthy children under 16 years of age with no growth impairment, and paired sera were collected from 11 sJIA patients treated with tocilizumab. Disease activity was assessed from white blood cell count, erythrocyte sedimentation rate, C-reactive protein, and ferritin, and the COMP concentration was determined by sandwich enzyme-linked immunosorbent assay. Serum COMP concentrations were found independent of age, and the mean value in healthy children was 17.74 ± 5.6 U/L. The mean serum COMP in sJIA patients during the active phase was 10.75 ± 3.9 U/L, lower than that of healthy children. The mean serum COMP in the remission phase (14.89 ± 3.9 U/L) was significantly higher than that in the active period ( P < 0.05). These results suggested that in sJIA patients, a reduced serum COMP concentration is a useful marker of active disease and growth impairment, and that the growth cartilage turnover suppressed during the active phase is improved in the remission phase under tocilizumab treatment. [ABSTRACT FROM AUTHOR]

In cases with short bowel syndrome (SBS), intestinal adaptation often requires a long time. In addition, the quality of life in SBS is not especially good due to some complications, including growth impairment, severe diarrhea, complications of parenteral nutrition (PN), and so on. We herein report an adolescent boy with SBS secondary to midgut volvulus. He suffered mainly from both severe high output syndrome, which caused a large amount of enteric fluid to flow out from the jejunostomy, and growth impairment, although PN continued after the occurrence of SBS. As a result, he thereafter could not continue his daily school life. Therefore, he was introduced to our department at 6 months after the operation. A closure of the jejunostomy combined with longitudinal intestinal lengthening using Bianchi's procedure was performed. Thereafter, the above-described symptoms disappeared. He was discharged and thereafter was again able to attend school with an improvement in his growth within 2 months after the second operation. Home PN was discontinued at 15 months after the second operation. Based on our experience, in cases of SBS without intestinal functional disorder, an early closure of the jejunostomy combined with Bianchi's procedure might therefore possibly lead to an early improvement in the complications related to SBS. [ABSTRACT FROM AUTHOR]

Plasma zinc, copper, and parameters of growth were measured in a group of 116 French preschool children, 2-5 yr-old from low-income households. Participants were selected on the basis of Z-scores of weight for height (WHZ) and height for age (HAZ). Zinc and copper concentrations of children with growth impairment (GI), defined by a WHZ and/or HAZ< −1 Z-score, were compared to those of age, sex, and ethnic origin matched controls (WHZ and HAZ >−1 Z-score). Mean (±SD) plasma zinc concentration was 12.58±1.84 μmol/L in the GI group, and 13.27±1.98 μmol/L in the controls. The difference of the means of paired samples was 0.69±2.34, and by paired t-test the significance reached p=0.028. This effect was primarily a result of the weight retarded group (WHZ <−1 Z-score, p<0.009) and to the girls ( p<0.05). There were no significant differences in plasma copper concentrations between groups. These results suggest the presence of marginal zinc deficiency in French preschool children with low weight for height Z-scores. [ABSTRACT FROM AUTHOR]

Implication for health policy/practice/research/medical education: Children with kidney disease and their families should be educated about the importance of potential benefits of routine psychological evaluations through the chronic kidney disease course. Peer groups of children with chronic kidney disease enable participants to share their experiences and support each other during this time of maturation. [ABSTRACT FROM AUTHOR]

Background: The phenotypic features of SHOX deficiency (SHOX-D) are highly variable and can be very mild, especially in young children. The aim of this retrospective study was to evaluate auxological and radiological indicators that could be predictive of SHOX-D in children. Methods: Molecular analysis of the SHOX gene was performed in 296 subjects with growth impairment or skeletal disproportion, without alternative diagnosis. Auxological variables and radiographs of the hand, wrist and forearm were evaluated. Results: SHOX mutations (88% inherited, 12% de novo) were identified in 52 subjects. The most predictive auxological indicators of SHOX-D were an increased sitting height/height ratio and a decreased arm span/height ratio. The convexity of distal radial metaphysis at X-ray, not yet reported in literature, was also found to be predictive of SHOX-D. In young children, stratification of data by bone age also highlighted ulnar tilt, lucency of the ulnar border of the distal radius and enlarged radius as the radiological signs most related to SHOX-D. Conclusions: In this study, the analysis of auxological and radiological indicators in SHOX-D children allowed to identify an additional early radiological sign and underlines the importance of family auxological evaluation. [ABSTRACT FROM AUTHOR]

A 12-year-old boy sustained a gunshot injury to the proximal femur. The bullet hole passed through the femoral neck very close to the proximal femoral physis (Ogden type 8 physeal injury) without neurovascular injury. The boy was treated conservatively with antibiotics and bedrest. Nine months later, avascular necrosis of the femoral head (Ratliff type 2) and limb shortening of 2 cm had developed. For this reason, a valgus intertrochanteric osteotomy was performed 1 year after the injury. However, only partial revascularization of a necrotic femoral head segment occurred. For the residual necrotic segment in the weight-bearing area and progressive shortening of the femur 3.5 years after injury, a valgus-extension intertrochanteric osteotomy was performed and remodelling of the necrotic fragment done. The boy is now over 19 years old. He has only minimal pain after sports activity and a slightly limited range of movement. The limb shortening is 1.5 cm. [ABSTRACT FROM AUTHOR]

Growth impairment and adrenal suppression secondary to inhaled corticosteroids (ICS) is a well-recognised phenomenon. We report a 13-year-old boy, treated long-term for asthma, who presented with short stature while on low-dose inhaled corticosteroid (beclomethasone 200 μg/d). Investigations revealed evidence of severe adrenal suppression. Weaning off the steroid treatment resulted in recovery of adrenal activity and rapid growth. While low-dose ICS are normally considered to have few side effects, this case illustrates the extreme variability of individual sensitivity and the need for careful surveillance of all children treated with long-term steroids. [ABSTRACT FROM AUTHOR]