The frequency of and factors affecting functional gastrointestinal disorders in infants that presented to tertiary care hospitals.

This study aimed to determine the prevalence of infantile functional gastrointestinal disorders (FGIDs) based on Rome IV diagnostic criteria, and to determine the associated patient demographic and nutritional characteristics. A total of 2383 infants aged 1-12 months which were evaluated by 28 general pediatricians and pediatric gastroenterologists on the same day at nine tertiary care hospitals around Istanbul, Turkey, between November 2017 and March 2018, were included in the study. Patients included consulted the pediatric outpatient clinics because of any complaints, but not for vaccines and/or routine well child follow-ups as this is not part of the activities in the tertiary care hospitals. The patients were diagnosed with FGIDs based on Rome IV diagnostic criteria. The patients were divided into a FGID group and non-FGID group, and anthropometric measurements, physical examination findings, nutritional status, risk factors, and symptoms related to FGIDs were evaluated using questionnaires. Among the 2383 infants included, 837 (35.1%) had ≥1 FGIDs, of which 260 (31%) had already presented to hospital with symptoms of FGIDs and 577 (69%) presented to hospital with other symptoms, but were diagnosed with FGIDs by a pediatrician. Infant colic (19.2%), infant regurgitation (13.4%), and infant dyschezia (9.8%) were the most common FGIDs. One FGID was present in 76%, and ≥2 FGIDs were diagnosed in 24%. The frequency of early supplementary feeding was higher in the infants in the FGID group aged ≤6 months than in the non-FGID group (P = 0.039).Conclusion: FGIDs occur quite common in infants. Since early diversification was associated with the presence of FGIDs, nutritional guidance and intervention should be part of the first-line treatment. Only 31% of the infants diagnosed with a FGID were presented because of symptoms indicating a FGID. What is Known: • The functional gastrointestinal disorders (FGIDs) are a very common disorder and affect almost half of all infants. • In infants, the frequency of FGIDs increases with mistakes made in feeding. When FGIDs are diagnosed in infants, nutritional support should be the first-line treatment. What is New: • This study shows that only a third of children presented to hospital because of the symptoms of FGIDs, but pediatricians were able to make the diagnosis in suspected infants after appropriate evaluation. • The early starting of complementary feeding (<6 months) is a risk factor for the development of FGIDs.

Association between Consumption of Cow's Milk and Iron Deficiency Anemia in Children: Are There Roles for Hepcidin-25/Ferroportin? A Case-Control Study.

Systemic iron homeostasis is regulated by the interaction of the peptide hormone, hepcidin and the iron exporter, ferroportin. The objective was to investigate the relationship between the consumption of cow's milk and iron deficiency anemia in children 2-10 years old and its association with the hepcidin-25 and ferroportin concentrations. The study population consisted of 187 prepubescent children of similar ideal body weight (IBW:90-120%); 82 children with iron deficiency anemia (37girls and 45boys; 4.27 ± 0.28 years) and 105 (47girls and 58boys; 4.25 ± 0.34 years) healthy age-sex-matched controls. Serum fasting hepcidin-25/ferroportin concentrations were measured by enzyme immunoassay in all subjects. Mean cow's milk consumption in the anemic group (373 ± 248 mL/d) tended to be higher than that in the control group (320 ± 226 mL/d), but the result was not statistically significant (p = 0.063).The mean hepcidin-25 level was significantly higher in the anemic group (19.5 ± 18.4 ng/mL) than in the healthy controls (11.0 ± 10.7, p < 0.001). The mean ferroportin level was lower in the anemic group (21.04 ± 5.74 ng/mL) than in the healthy controls (22.68 ± 4.77 ng/ml, p = 0.037). Consuming cow's milk was not associated with IDA in prepubertal children, provided that it was adequately supplemented with iron-enriched foods. We observed a significant increase in hepcidin-25 levels and a decrease in ferroportin levels in children with iron deficiency anemia compared with healthy controls. Children who consumed more cow's milk had higher levels of hepcidin-25. Iron deficiency anemia is not a concern when cow's milk is given to children if the complementary foods are rich in iron.

Genetic and Clinical Characteristics of Patients with Vitamin D Dependent Rickets Type 1A

Objective: Vitamin D dependent rickets type 1A (VDDR1A) is an autosomal recessive disorder caused by mutations in the 1α-hydroxylase gene (CYB27B1). As it may be confused with nutritional rickets and hypophosphatemic rickets, genetic analysis is important for making a correct diagnosis. Methods: We analysed genomic DNA from 11 patients from eight different Turkish families. The patients were recruited for our studies if they presented with a diagnosis of VDDR. Results: The mean ± standard deviation age at diagnosis was 13.1±7.4 months. Seven patients had mild hypocalcemia at presentation while four patients had normal calcium concentrations. All patients underwent CYP27B1 gene analysis. The most prevalent mutation was the c.195 + 2T>G splice donor site mutation, affecting five out of 11 patients with VDDR1A. Two patients from the fourth family were compound heterozygous for c.195 + 2T>G and c.195 + 2 T>A in intron-1. Two patients, from different families, were homozygous for a previously reported duplication mutation in exon 8 (1319_1325dupCCCACCC, Phe443Profs*24). One patient had a homozygous splice site mutation in intron 7 (c.1215 + 2 T>A) and one patient had a homozygous mutation in exon 9 (c.1474 C>T). Conclusion: Intron-1 mutation was the most common mutation, as previously reported. All patients carrying that mutation were from same city of origin suggesting a "founder" or a "common ancestor" effect. VDDR1A should definitely be considered when a patient with signs of rickets has a normal 25-OHD level or when there is unresponsiveness to vitamin D treatment.

A Case of the Perinatal Form Hypophosphatasia Caused by a Novel Large Duplication of the ALPL Gene and Report of One Year Follow-up with Enzyme Replacement Therapy

Hypophosphatasia (HPP) is a rare disease caused by mutations in the ALPL gene encoding tissue-non-specific isoenzyme of alkaline phosphatase (TNSALP). Duplications of the ALPL gene account for fewer than 1% of the mutations causing HPP. It has been shown that asfotase alfa enzyme replacement treatment (ERT) mineralizes the skeleton and improves respiratory function and survival in severe forms of HPP. Our patient was a newborn infant evaluated for respiratory failure and generalized hypotonia after birth. Diagnosis of HPP was based on low-serum ALP activity, high concentrations of substrates of the TNSALP and radiologic findings. On day 21 after birth, ERT using asfotase alfa (2 mg/kg three times per week, subcutaneous injection) was started. His respiratory support was gradually reduced and skeletal mineralization improved during treatment. We were able to discharge the patient when he was seven months old. No mutation was detected in the ALPL gene by all exon sequencing, and additional analysis was done by quantitative polymerase chain reaction (qPCR). As a result, a novel homozygote duplication encompassing exons 2 to 6 was detected. Early diagnosis and rapid intervention with ERT is life-saving in the severe form of HPP. qPCR can detect duplications if a mutation cannot be detected by sequence analysis in these patients.

Glycogen storage disease type 0 due to a novel frameshift mutation in glycogen synthase 2 (GYS2) gene in a child presenting with fasting hypoglycemia and postprandial hyperglycemia.

Hacihamdioglu B, Özgürhan G, Çaran B, Meydan-Aksanli E, Keskin E. Glycogen storage disease type 0 due to a novel frameshift mutation in glycogen synthase 2 (GYS2) gene in a child presenting with fasting hypoglycemia and postprandial hyperglycemia. Turk J Pediatr 2018; 60: 581-583. Glycogen storage disease type 0 (GSD0) has been considered a rare disorder, it is characterized with ketotic hypoglycemia after prolonged fasting and postprandial hyperglycemia. Herein, we report a novel mutation in the glycogen synthase 2 gene in a Turkish child, as well as her clinical characteristics and 12-month follow-up. We evaluated a 5-year-old girl for asymptomatic fasting ketotic hypoglycemia with postprandial hyperglycemia diagnosed with glycogen storage disease type 0. We identified a novel frameshift mutation, c.1081delA (p.Thr361Glnfs*2) in exon 8 on glycogen synthase 2 gene. Children with GSD0 may have a mild phenotype and GSD0 may be underdiagnosed due to subclinical or asymptomatic hypoglycemia. The diagnosis of GSD0 should be considered in a child with ketotic fasting hypoglycemia with postprandial hyperglycemia but without hepatomegaly.

Risk factors for childhood obesity: Do the birth weight, type of delivery, and mother's overweight have an implication on current weight status?

BACKGROUND: The aim of this study was to identify risk factors, including the type of delivery, breastfeeding and its duration, birth weight, the timing of solid food introduction, the mother's education level at birth, and smoking status during pregnancy, that are associated with obesity in children living in Istanbul. METHODS: This study involving 4990 healthy children aged 2-14 years, at an outpatient clinic in a tertiary care hospital from June 2012 to July 2014. RESULTS: The overall rates of overweight and obesity in children were 13.1% and 7.8%, respectively. Results demonstrated that 44.5% of children were delivered by caesarean section. In all age groups, 7.8% of children delivered by caesarean section were obese compared with 7.9% of children born vaginally. No significant association between caesarean section delivery and obesity in childhood was found in our study [odds ratio (OR)=0.98, 95% confidence interval (CI)=0.64-2.87, P=0.454]. There was also no association between duration of breastfeeding and the introduction of solid foods before 4 months or after 6 months of age and childhood obesity (OR=0.95, 95% CI=0.69-1.3, P=0.771; OR=0.99, 95% CI=0.64-1.53, P=0.261). Regression analyses revealed that children with birth weights greater than 3801 g or those with maternal body mass index (BMI) equal to or greater than 30 had an increased risk of being obese or overweight (OR=1.78, 95% CI=1.19-2.65; OR=3.95, 95% CI=1.94-5.81). CONCLUSIONS: This study demonstrated that increased birth weight and maternal BMI are significant risk factors for obesity in children living in Istanbul, Turkey. No relation between caesarean section delivery and childhood obesity was found in this study.

Escherichia coli Meningitis after Rotavirus Gastroenteritis in an Infant.

Although rotavirus gastroenteritis is quite common in the pediatric population, secondary bacterial sepsis following rotavirus infection is a rare clinical entity. Gram-negative bacilli are the fifth most common cause of meningitis in infants but this infection rarely occurs after gastroenteritis. Here, we report a 2.5-month-old infant who developed Escherichia coli (E. coli) meningitis after acute rotavirus gastroenteritis. The 2.5-month-old male infant with fever, vomiting, and watery diarrhea that started 1 day earlier was admitted to the hospital. Rotavirus antigen in stool sample was positive. He was hospitalized, and fever was measured at 39.5°C on the second day. Lumbar puncture was done for suspicion of meningitis, and cerebrospinal fluid (CSF) findings suggested meningitis. Intravenous vancomycin and cefotaxime were started empirically. Since E. coli reproduction was seen in blood culture and CSF culture, treatment was continued with cefotaxime. The patient was discharged with minimal midlevel hydrocephalus findings in cranial ultrasonography and magnetic resonance imaging following 21 days of antibiotics treatment. Septicemia development following rotavirus gastroenteritis is an extremely rare clinical condition. It is vital to start prompt antibiotic treatment as soon as the diagnosis of secondary bacterial infection is made because of high mortality and morbidity rates.

Risk assessment of obstructive sleep apnea syndrome in pediatric patients with vitamin D deficiency: A questionnaire-based study.

The aim of the following study is to evaluate the risk of obstructive sleep apnea syndrome (OSAS) in subjects with vitamin D deficiency.Prospective and comparative study.We enrolled 240 subjects into the study. The participants were divided into 2 groups based on 25-hydroxyvitamin D (25[OH]D) levels: low level of 25(OH)D (<20 ng/mL) group (n = 120) and control (>20 ng/mL) group (n = 120). Subjects were classified as being at a high or low risk of developing OSAS by using the Berlin Questionnaire. Risk of developing OSAS, gender, age, and body mass index (BMI) z-score were assessed by comparing the low level of 25(OH)D group and control group.No statistically significant difference was observed between the low level of 25(OH)D group and control group in terms of gender, age, and BMI z-score distributions; P = 0.323, P = 0.387, and P = 0.093, respectively. There were 24 subjects with high risk of developing OSAS in 2 groups (17 subjects in the low level of 25[OH]D group and 7 subjects in the control group). In the low level of 25(OH)D group, the risk of developing OSAS was found to be significantly higher than the control group (P = 0.030). BMI z-score was found significantly higher in high-risk groups than low-risk groups (P = 0.034 for low-level 25[OH]D group and P = 0.023 for control group).The findings revealed that low level of 25(OH)D increases the risk of developing OSAS.

Relationship between newborn craniotabes and vitamin D status.

OBJECTIVE: In recent studies, vitamin D deficiency during pregnancy and early infancy has been reported to predispose children to many chronic diseases, except those of the skeletal system. The aim of this study was to investigate whether craniotabes in otherwise healthy newborns is physiological, its relationship to vitamin D deficiency and whether or not it requires treatment. METHODS: A total of 150 healthy newborns with a weight of over 2000 g were included. Newborns were divided into two groups during postnatal discharge (1-3.'s day): those with and without craniotabes. The 25-hydroxy (OH) vitamin D levels of the newborns' mothers were measured, and all infants were re-evaluated for craniotabes, as well as tested to determine levels of serum calcium (Ca), phosphorus (P), alkaline phosphatase (ALP), parathyroid hormone (PTH) and 25(OH) vitamin D, urine calcium and creatinine. RESULTS: Craniotabes was present in 45 (30%) of newborns enrolled in the study. Craniotabes of the newborns born during the winter months was significantly higher. PTH level was significantly higher in 1-month-old newborns with craniotabes than those without craniotabes. No relationship was observed between diet and craniotabes, but in exclusively breastfed infants, vitamin D level was statistically significantly lower. No statistically significant difference was found in the occurrence of craniotabes in newborns with or without vitamin D support. CONCLUSION: The relationship between newborn craniotabes and maternal vitamin D deficiency is not clear. However, the present study illustrates that maternal vitamin D deficiency is still a major problem. Therefore, measures to prevent maternal vitamin D deficiency should be strengthened.

Acute Kidney Injury Complicated Epstein-Barr Virus Infection in Infancy.

Infectious mononucleosis is an acute lymphoproliferative disorder caused by the Epstein-Barr virus (EBV) and seen most commonly in children and young adults. Clinical presentation of the disease is characterized by fever, tonsillopharyngitis, lymphadenopathy, and hepatosplenomegaly, whereas serological findings of this benign disorder include positive heterophilic antibody formation (transient increase in heterophilic antibodies) and prominence of hematological lymphocytosis of more than 10% of atypical lymphocytes. An EBV infection is usually asymptomatic in childhood, but acute kidney injury can be a rare complication during its course. Most cases recover from the disease completely. Early recognition of EBV infection and estimation of its complication are important for its prognosis. In light of previous literature, we discuss the case evaluated as an EBV infection complicated by acute kidney injury in early childhood and results of tubulointerstitial nephritis shown on a renal biopsy that was later diagnosed as an EBV infection by serological examination.

Are Growing Pains Related to Vitamin D Deficiency? Efficacy of Vitamin D Therapy for Resolution of Symptoms.

OBJECTIVES: The aim of this study was to investigate the 25-hydroxyvitamin D [25(OH)D] status of children with growing pains and to evaluate the efficacy of vitamin D treatment on the resolution of pain symptoms. SUBJECTS AND METHODS: One hundred and twenty children with growing pains were included in a prospective cohort study. Serum 25(OH)D and bone mineral levels were measured in all subjects at the time of enrollment. The pain intensity of those with vitamin D deficiency was measured using a pain visual analog scale (VAS). After a single oral dose of vitamin D, the pain intensity was remeasured by means of the VAS at 3 months. The 25(OH)D levels and VAS scores before and after oral vitamin D administration were compared by means of a paired Student's t test. RESULTS: In the 120 children with growing pains, vitamin D insufficiency was noted in 104 (86.6%). Following vitamin D supplementation, the mean 25(OH)D levels increased from 13.4 ± 7.2 to 44.5 ± 16.4 ng/ml, the mean pain VAS score decreased from 6.8 ± 1.9 to 2.9 ± 2.5 cm (a mean reduction of -3.8 ± 2.1, p < 0.001) and the difference was statistically significant. CONCLUSION: Supplementation with oral vitamin D resulted in a significant reduction in pain intensity among these children with growing pains who had hypovitaminosis D.

Recurrent meningitis in a child with IgG3 subclass deficiency.

Recurrent meningitis is an uncommon life-threatening condition. Here, the case of a 6-year-old boy is reported who had two episodes of meningitis with an IgG3 subclass deficiency. The boy had aseptic meningitis at the age of 3 years, followed by bacterial meningitis at the age of 4 years. Primary immunoglobulin deficiencies are a group of disorders associated with an increased incidence and/or severity of infection. Recurrent infections, sinusitis, bronchitis, and pneumonia are the most frequently observed illnesses in patients with IgG subclass deficiencies, of which an IgG3 subclass deficiency is the most common, especially in adults. Although cases of recurrent viral or bacterial meningitis have been reported, herein a patient is presented with recurrence of aseptic and bacterial meningitis 1 year after the initial episode. Some researchers recommend that all children with episodes of recurrent meningitis should be screened for primary immunoglobulin or complement deficiencies.

Hematological indices for differential diagnosis of Beta thalassemia trait and iron deficiency anemia.

Background. The two most frequent types of microcytic anemia are beta thalassemia trait ( ß -TT) and iron deficiency anemia (IDA). We retrospectively evaluated the reliability of various indices for differential diagnosis of microcytosis and ß -TT in the same patient groups. Methods. A total of 290 carefully selected children aged 1.1-16 years were evaluated. We calculated 12 discrimination indices in all patients with hemoglobin (Hb) values of 8.7-11.4 g/dL. None of the subjects had a combined case of IDA and ß -TT. All children with IDA received oral iron for 16 weeks, and HbA2 screening was performed after iron therapy. The patient groups were evaluated according to red blood cell (RBC) count; red blood distribution width index; the Mentzer, Shine and Lal, England and Fraser, Srivastava and Bevington, Green and King, Ricerca, Sirdah, and Ehsani indices; mean density of hemoglobin/liter of blood; and mean cell density of hemoglobin. Results. The Mentzer index was the most reliable index, as it had the highest sensitivity (98.7%), specificity (82.3%), and Youden's index (81%) for detecting ß -TT; this was followed by the Ehsani index (94.8%, 73.5%, and 68.3%, resp.) and RBC count (94.8%, 70.5%, and 65.3%). Conclusion. The Mentzer index provided the highest reliabilities for differentiating ß -TT from IDA.