Acquired factor VII deficiency in pediatric inflammatory bowel disease: Report of three cases.

Bleeding disorders can exacerbate gastrointestinal bleeding in inflammatory bowel disease (IBD) at the time of diagnosis or flares. Factor VII (FVII) deficiency is a life-threatening rare congenital bleeding disorder in childhood. This study describes three adolescent patients with IBD accompanied by acquired FVII deficiency. This is the first case series of patients with IBD accompanied by FVII deficiency. We hypothesized that inflammation, accelerated consumption, disease severity, and weight loss can cause decreased FVII activity in patients diagnosed with IBD. To control intestinal bleeding, we must keep in mind factor deficiencies in IBD.

The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study.

Introduction: Elevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children with isolated hypertransaminasemia. Methods: This multi-center, prospective study enrolled patients aged 3-216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2× the upper limit of normal (ULN) for ≥3 months. Patients with a known history of liver or muscle disease or physical examination findings suggestive of liver disease were excluded. Patients were screened for creatinine phosphokinase (CPK) levels, and molecular genetic tests for DMD/BMD in male patients and enzyme analysis for PD in male and female patients with elevated CPK levels were performed. Genetic analyses confirmed PD. Demographic, clinical, and laboratory characteristics of the patients were analyzed. Results: Overall, 589 patients [66.8% male, mean age of 63.4 months (standard deviation: 60.5)] were included. In total, 251 patients (188 male and 63 female) had CPK levels above the ULN. Of the patients assessed, 47% (85/182) of male patients were diagnosed with DMD/BMD and 1% (3/228) of male and female patients were diagnosed with PD. The median ALT, AST, and CPK levels were statistically significantly higher, and the questioned neurological symptoms and previously unnoticed examination findings were more common in DMD/BMD patients than those without DMD/BMD or PD (p < 0.001). Discussion: Questioning neurological symptoms, conducting a complete physical examination, and testing for CPK levels in patients with isolated hypertransaminasemia will prevent costly and time-consuming investigations for liver diseases and will lead to the diagnosis of occult neuromuscular diseases. Trial Registration: Clinicaltrials.gov NCT04120168.

Interaction of functional gastrointestinal disorders with postpartum conditions related to mother and baby.

BACKGROUND: Functional gastrointestinal disorders (FGID) may affect or may be affected by postpartum depression (PPD), mode of feeding and postpartum life quality. We aimed to evaluate the interaction between FGID and these parameters in infants. METHODS: The study group consisted of babies attending our outpatient clinics. There were three age groups: 4-6 weeks, 3-4 months and 6-7 months. Demographic data of the babies and mothers, and data of feeding were collected. For the diagnosis of FGID, Rome III criteria were used. Mothers were screened with the Edinburgh Depression Scale. Quality of life (QoL) scores were obtained by using the `Maternal Postpartum Quality of Life Questionnaire`. Factors affecting the presence of FGID, PPD and quality of life were analyzed. RESULTS: Two hundred thirteen infants were enrolled during the study period. FGID was present with similar rates in both genders and was lower (31.5%) in the 6-7 month-old group (p=0.001). Infantile colic was higher in girls (68.6% vs. 31.4%, p=0.016). In 4-6 week-old infants with infantile dyschesia, the delivery route was mostly cesarean (83.3% vs. 16.7%, p=0.006). Similarly, regurgitation was more frequent in 6-7 month-old infants born by cesarean (88.9% vs. 11.1%, p=0.035), and was more frequent in infants being exclusively breastfed (60.9%, p=0.037). QoL scores were lower in mothers with depression (20.9±3.4 vs. 23.9±3.6, p=0.003). Infantile colic was higher in mothers with depression, but not significantly (29.3% vs. 11.4%, p=0.057). CONCLUSIONS: Caesarian section delivery and breastfeeding were influential on infantile dyschesia and regurgitation subgroups. No other studied factor seemed to affect FGID.

Serum total and free carnitine levels in children with asthma.

BACKGROUND: Serum carnitine is decreased in recurrent pulmonary infections. We aimed to evaluate serum carnitine levels in asthmatic children. METHODS: Study group consisted of children with stable asthma and those with acute asthma attacks, while control group included healthy children. Attack severity was determined by the pulmonary score system. Total and free carnitine levels were studied in one blood sample from the control group and stable asthmatics and in two samples from children with acute asthma exacerbation during and after the attack. RESULTS: All the 40 patients in the study group had moderate asthma including 30 with acute attack (13 mild and 17 moderate) and 10 with stable asthma. Carnitine levels were significantly lower in acute attack asthmatics than in the stable asthmatics and controls, while there was no significant difference between the latter two groups. Carnitine levels were not different between asthmatics with mild and moderate attack, and were similar during and after an acute attack. CONCLUSIONS: Serum carnitine levels decrease in children with moderate asthma during exacerbation of asthma and shortly thereafter. Further studies are needed to evaluate the effect of carnitine treatment on serum carnitine level.

Predictors of renal scar in children with urinary infection and vesicoureteral reflux.

We evaluated the predictors of renal scar in children with urinary tract infections (UTIs) having primary vesicoureteral reflux (VUR). Data of patients who were examined by dimercaptosuccinic acid (DMSA) scintigraphy between 1995 and 2005 were evaluated retrospectively. Gender, age, reflux grade, presence/development of scarring, breakthrough UTIs, and resolution of reflux, were recorded. The relation of gender, age and VUR grade to preformed scarring and the relation of gender, age, VUR grade, presence of preformed scarring, number of breakthrough UTIs and reflux resolution to new scarring were assessed. There were 138 patients [male/female (M/F) 53/85]. Multivariate analysis showed that male gender [odds ratio (OR) 2.5], age > or = 27 months in girls (OR 4.2) and grades IV-V reflux (OR 12.4) were independent indicators of renal scarring. On the other hand, only the presence of previous renal scarring was found to be an independent indicator for the development of new renal scar (OR 13.4). In conclusion, while the most predictive variables for the presence of renal scarring among children presenting with a UTI were male gender, age > or = 27 months in girls, and grades IV-V reflux, the best predictor of new scar formation was presence of previous renal scarring.

Hepatic glycogenosis: a rare cause of hepatomegaly in Type 1 diabetes mellitus.

Hepatomegaly, with or without abnormal liver function tests, was a common feature of both pediatric and adult patients with diabetes mellitus. We are reporting a case of a 16-year-old diabetic boy in whom we found hepatomegaly, mildly elevated transaminases and elevated serum lipids never noticed before. Abdominal ultrasound confirmed hepatomegaly; liver biopsy pointed out a picture compatible with glycogenosis. The patient's abnormal liver function tests, elevated serum lipids and hepatomegaly decreased over a period of 4 weeks with tight metabolic control. This situation was due to overinsulinization because the patient assumed an excessive quantity of food and therefore took an excessive quantity of insulin. In conclusion, hepatomegaly may be seen in diabetic patients due to hepatic glycogen accumulation as a result of excessive food and insulin consumption. In hepatic glycogenosis, the pathological findings improve in 4 weeks when good metabolic control is provided. Therefore, the other reasons must be investigated when hepatomegaly persists for a longer period.

Developmental characteristics of children aged 1-6 years with food refusal.

OBJECTIVE: The aim of this study was to compare the sociodemographic and developmental characteristics of children with food refusal and children with no history of feeding problems. DESIGN: Cross-sectional case-control study. SAMPLE: 30 children aged 1-6 years who were seen in the outpatient clinics for food refusal formed the case group, and 30 healthy children matched for age, sex, and socioeconomic status formed the control group. METHODS: Anthropometric indices and early developmental characteristics of all the children in the study were evaluated and also their developmental levels were determined using the Ankara Developmental Screening Inventory. RESULTS: The mean age of children with food refusal was 42.4+/-17.6 months, and the male/female ratio was 12/18. Children with food refusal had shorter mean breastfeeding durations and lower mean birth weights, body mass index, percentage height for age, and percentage weight for height values than those of the controls. There were no significant differences between the 2 groups in developmental delays. CONCLUSIONS: These results suggest that food refusal may be related to lower birth weight and shorter breastfeeding duration. Further research with larger samples is needed to clarify these relationships and the effects of feeding problems on the growth and development of children.

[Family functioning, personality disorders, and depressive and anxiety symptoms in the mothers of children with food refusal]. / Yeme Reddi Olan Cocuklarin Annelerinde Kisilik Bozukluklari, Depresyon ve Anksiyete Belirtileri ve Aile Islevleri.

OBJECTIVE: A review of the literature reveals that feeding problems during early childhood can be related to maternal psychiatric disorders. We aimed to evaluate the personality disorders, levels of depression and anxiety symptoms in the mothers of children with food refusal in addition to family functioning. METHOD: Thirty children aged between 1 and 6 years admitted to the clinic for food refusal and their mothers were included in the study. The control group consisted of 30 healthy children and their mothers. The Beck Depression Inventory, State-Trait Anxiety Inventory, McMaster Family Assessment Device and Structured Clinical Interview for DSM-III-R Personality Disorders were performed in mothers, and the presence of any personality disorders was evaluated with the SCID-II Interview. RESULTS: The depression and anxiety scores of the mothers of patients were higher than those of the controls. Perceived family functioning by mothers of patients was more problematic than that of the controls. Rates of maternal personality disorders were not significantly different between the two groups. CONCLUSION: Food refusal is not only related to characteristics of the child or his/her mother, but also to problems in family functioning. An integrative approach which evaluates the whole family is helpful to assess and treat children with food refusal.

Cryptosporidium parvum diarrhea in an infant with short bowel syndrome.

Cryptosporidium parvum is an underdiagnosed cause of diarrhea in children. The case of a 1-year-old girl with short bowel syndrome presenting with severe dehydrating diarrhea with a protozoon named C parvum is reported. Although the resection of the small bowel in this patient seemed to cause this severe infection with C parvum, more cases are needed to include the resection of the small bowel as a risk factor for Cryptosporidium infection and/or for a more severe form of diarrhea. Awareness of this infection among clinicians will help to diagnose this infection since special acid fast staining is made on special request.

Immunohistochemical evaluation of p53 expression and proliferative activity in children with Helicobacter pylori associated gastritis.

OBJECTIVES: The aim of this study was to evaluate the significance of p53 expression and proliferative activity of glandular epithelium and intestinal metaplasia in Helicobacter pylori associated gastritis of pediatric patients. METHODS: The study included endoscopic gastric biopsies of 54 children with dyspeptic complaints. Immunohistochemistry was performed for evaluation of p53 expression and Ki-67 labeling index, an indicator of proliferative activity. Grading of H. pylori density, intestinal metaplasia and inflammatory cell infiltration were performed in histologic tissue sections stained with hematoxylin-eosin, Giemsa and Alcian-blue. RESULTS: Of 54 children, 35 (64%) were infected by H. pylori. Positive immunostaining for p53 was observed in 11 of 54 cases (20.4%). H. pylori infection was found in 10 (91%) of the p53-positive patients. There was a positive correlation between H. pylori density and Ki-67 labeling index in H. pylori infected children. H. pylori density, Ki-67 labeling index and inflammatory cell infiltration in the p53-positive group were significantly higher than in the p53-negative group. Although intestinal metaplasia was more common in H. pylori infected children (n = 11; 31.4%), there was no difference in the rate of intestinal metaplasia between the p53-positive and p53-negative groups. CONCLUSIONS: The present study shows that p53 mutations and higher proliferative activity of glandular epithelium may be related to H. pylori associated gastritis in children. Because p53 mutation does not appear to be associated with intestinal metaplasia, a precursor for gastric cancer in adults, we think that H.pylori associated p53 alterations do not initiate and promote gastric cancer that may occur in adulthood.