Fecal elastase levels in children diagnosed with functional abdominal pain-not otherwise specified.

BACKGROUND: Although the exact pathophysiology of functional gastrointestinal diseases remains unclear, numerous etiologies have been blamed, including visceral hypersensitivity, gastrointestinal motility disorders, psychological factors, intestinal mucosal inflammation, intestinal microbiota, and post-infectious syndromes. In the present study, we aimed to evaluate pancreatic insufficient patients diagnosed with functional abdominal pain-not otherwise specified (FAP-NOS) according to Rome IV criteria. METHODS: The study included a total of 110 patients aged 4-17 years who were diagnosed with FAP-NOS according to Rome IV criteria. The control group consisted of 80 patients with no gastrointestinal disorders and chronic diseases. Glucose, amylase, lipase, pancreatic amylase, immunoreactive trypsinogen (IRT) and fecal elastase (FE-1) levels were examined for each patient. RESULTS: No significant difference was found between the two groups with regard to lipase, pancreatic amylase, IRT, and serum glucose levels. However, the amylase levels were significantly higher and the FE-1 levels were significantly lower in the study group compared to the control group (p=0.007 and p < 0.001). The cut-off value detected in in ROC analysis for the diagnostic value of FE-1 in predicting FAP-NOS was found to be 140.107 µg/g. Based on this value, the sensitivity, specificity, PPV, and NPV of FE-1 were 82.1%, 66.2%, 77%, 73%, respectively. Accordingly, the likelihood of FE-1 in providing a positive value in patients with FAP-NOS was almost 9 times higher than in individuals without FAP-NOS. CONCLUSIONS: FE-1 levels were significantly lower in children diagnosed with FAP-NOS and we consider that this difference could be attributed to malabsorption secondary to dysbiosis as there is not enough data.

Identification of three novel pathogenic ITGA2B and one novel pathogenic ITGB3 mutations in patients with hereditary Glanzmann's thrombasthenia living in Eastern Turkey.

Glanzmann's thrombasthenia (GT) is an autosomal recessive disorder in which the underlying problem is the lack or dysfunction of the GpIIb/IIIa receptor on the platelet surface. The present study determines the genetic mutation typology and analyzes the association between mutation types and clinical findings in patients diagnosed with GT who were followed up in Department of Pediatric Hematology of the Yüzüncü Yil University School of Medicine. The medical charts of 17 patients who underwent therapy and that were followed up in the Department of Pediatric Hematology of the Yüzüncü Yil University Dursun Odabas Medical Center between January 2008 and April 2018 were reviewed retrospectively. Data on such patient characteristics as present genetic mutations, age, gender, age at diagnosis, presenting symptoms, clinical findings, and platelet count and volume were garnered from the patient records. Of the 12 patients identified with genetic mutations, six had the same type of mutation, while four were identified with novel mutations that have to date not been defined in literature. Of these four mutations, three were located in the ITGA2B gene and one in the ITGB3 gene. The present study identified no significant association between the genetic and clinical findings of the patients. Novel mutations were identified in four cases in the present study. No association was found between the mutation type, and the bleeding scores and bleeding phenotypes of the patients. Further studies involving a larger number of patients are required to determine the relationship between the genotypes and clinical findings in patients with GT.

Muscle strength and joint health in children with hemophilia: a cross-sectional study.

BACKGROUND AND OBJECTIVES: We aimed to evaluate joint health in children with hemophilia (CwH) and to investigate the effects of hemarthrosis on the musculoskeletal system. METHOD: Forty-one CwH aged between 6-18 years participated in the study. Joint health status was evaluated according to Hemophilia Joint Health Score (HJHS). Pain intensity level was assessed in resting and in activity using Visual Analog Scale. Range of motion was measured with goniometer and muscle strength was assessed with digital dynamometer. Arthropathic joints were examined in three groups named knee, elbow and ankle. RESULTS: Physical examination revealed arthropathy findings to be found in 29 knee, 19 elbow and 18 ankle joints. The median of flexion angle of the affected side were 120°, 122° and 12° for the knee, elbow and ankle and extension losses of these joints were 5°, 7° and 0, respectively. In CwH having knee and elbow arthropathy, index joint HJHS was found to be significantly higher than those with ankle arthropathy (p < 0.01). The flexor and extensor muscle strength significantly decreased in 11 CwH with unilateral elbow arthropathy compared to the non-arthropatic side (p < 0.05). In 15 CwH with unilateral ankle arthropathy decreased in the extensor muscle strength (plantarflexors) (p < 0.05). Extension loss showed a good correlation with index HJHS of elbow, knee and ankle joints, respectively. (rs= 0.599, 0.576, 0.606, p < 0.01). We observed that the muscle strength of elbow flexors/extensors and ankle extensors were significantly decreased compared to the non-arthropathic side. However this situation was not detected in knee joint despite having highest index HJHS. CONCLUSION: Our findings indicate that hemarthrosis may cause more muscle strength loss in the upper extremity than the lower extremity. Furthermore, extension loss was found to be an important parameter in physical examination of hemophilic arthropathy. Musculoskeletal system should be evaluated comprehensively at regular intervals and when necessary rehabilitative treatment should be planned.

Cutaneous side effects of doxycycline: a pediatric case series.

OBJECTIVE: Brucellosis is highly endemic in Turkey and doxycycline is commonly used for its treatment. The present study aimed at documenting the cutaneous side effects of doxycycline in pediatric brucellosis patients in Turkey. MATERIALS AND METHODS: Pediatric patients with brucellosis that were treated between February 2014 and January 2016 were analyzed retrospectively, and those that developed doxycycline-related cutaneous side effects were identified. Demographic data, epidemiological history, physical examination findings, laboratory test results, anti-brucellosis treatment regimen, duration of follow up and outcome were recorded. RESULTS: Among the 189 brucellosis patients, 141 treated with doxycycline plus rifampicin. Seven patients (5%) (two female and five male) developed doxycycline-related cutaneous side effects. Mean duration of treatment before the onset of cutaneous side effects was 9.5 weeks. Doxycycline therapy was continued in five of these patients and was changed in two patients. In the patients that continued to receive doxycycline the cutaneous side effects gradually improved. CONCLUSIONS: Cutaneous side effects of doxycycline should always be a consideration, especially in regions in which brucellosis is endemic and doxycycline is commonly used to treat it.

An analysis of children with brucellosis associated with haemophagocytic lymphohistiocytosis.

This retrospective study included seven paediatric cases aged from 4 to 14 (10.2±3.4) years with pathologically proved haemophagocytic lymphohistiocytosis from a single institution during 2009 and 2013. Over this time period, 496 patients with brucellosis were diagnosed. None of the patients (3 boys and 4 girls) had a history of any haematologic disorder. All patients had an anamnesis for recently consumed unpasteurised homemade dairy products or had a contact history with sheep and/or cows. The diagnosis of brucellosis was confirmed by standard tube agglutination test in all patients; titres were 1: 1280 in seven patients. Blood culture was positive for Brucella melitensis in three patients (42%). Bone marrow cultures were positive for B. melitensis in four patients (57%). Fever was present in all patients (100%) with haemophagocytic lymphohistiocytosis. The other most common symptoms were malaise, myalgia, anorexia, sweating and weight loss. In addition, sweating was observed in five patients, and lymphadenopathy, petechiae, and weight loss were observed in one patient. Hepatomegaly, splenomegaly, and hepatosplenomegaly were found in four (57%), six (85%) and four (57%), patients, respectively. Haemophagocytosis was documented in bone marrow examinations of all children except in two cases. All patients recovered completely, and their peripheral blood counts returned to normal by 2 to 4 weeks after antibiotic treatment of brucellosis.

Evaluation of the Hemostatic Disorders in Adolescent Girls with Menorrhagia: Experiences from a Tertiary Referral Hospital.

Bleeding disorders are a common cause of menorrhagia in the adolescent age group. We aimed to evaluate the incidence of hemostatic disorders, using clinical and laboratory findings of bleeding disorders in adolescent girls with menorrhagia. A retrospective chart review used to evaluate adolescent girls with menorrhagia who were referred to Yuzuncu Yil University Pediatric Hematology clinic between January 2010 and December 2014. Out of 52 patients referred for investigation, 50 patients were included in the study. The mean age and mean menarche age were 14.8 ± 1.42 (range: 12-17) and 12.47 ± 0.55, respectively. In 42 % (n = 21) of patients, anemia was detected. In 22 % (n = 11) of patients, a bleeding disorder was detected: five cases with von Willebrand disease, two cases with acute immune thrombocytopenic purpura, one case with Bernard-Soulier syndrome, one case with Glanzmann thrombasthenia, one case with aplastic anemia and one case with factor X deficiency. The remaining 39 out of the 50 patients were finally diagnosed with dysfunctional uterine bleeding. When compared the patients with bleeding disorders and without bleeding disorders, bleeding from other sites, including gingival bleeding or epistaxis, low platelet counts and prolonged activated partial thromboplastin time were found statistically more frequent in patients with bleeding disorders (p < 0.05). Menorrhagia in adolescents is frequently associated with underlying bleeding disorders. Adolescents with heavy menstrual bleeding and a history of nose or gingival bleeding should be evaluated for congenital bleeding disorders.

Diagnostic evaluation of our patients with hemophilia A: 17-year experience.

AIM: Hemophilia A is a rare inherited bleeding disorder resulting from factor VIII deficiency and is a group of diseases characterized by intra-articular and intramuscular bleeding. In this study, we aimed to retrospectively evaluate the treatment outcomes, demographic and clinical characteristics of our patients who were treated and followed up for last 17 years in our pediatric hematology unit with a diagnosis of Hemophilia A. MATERIAL AND METHODS: The medical records of 83 patients who were diagnosed with Hemophilia A and followed up between 1997 and 2014 in our hospital's pediatric hematology clinic were reviewed retrospectively. The demographic data, prophylaxis state, development of inhibitors and clinical characteristics of the patients were evaluated. RESULTS: When the complaints at presentation were examined, it was found that 27 (32%) patients had hemarthrosis, 24 (29%) patients had ecchymosis and hematoma, 13 (16%) patients had prolonged bleeding after trauma or cut, 10 (12%) patients had gingival, mouth or nose bleeding, 4 (5%) patients had prolonged bleeding after circumcision, 4 (5%) patients had gastrointestinal bleeding, 1 (1%) patient had hematuria. Fifty (60%) patients were considered severe hemophilia A, 20 (24%) patients were considered moderate hemophilia A and 13 (16%) patients were considered mild hemophilia A according to factor activity. Among severe hemophilia A patients, primary prophylaxis was being administered in 2 (2%) patients and secondary prophylaxis was being administered in 40 (48%) patients. Inhibitor positivity was found in 8 (10%) of these patients. It is found that hemophilic artropathy developed in 17 patients and 8 of these 17 patients had undergone radioisotope synovectomy. CONCLUSIONS: Treatment of severe bleeding in hemophilia A patients should be performed in hospital and the presence of inhibitor must be investigated in cases of uncontrolled bleeding where adequate doses of factor concentrates have been administered for treatment. In order to decrease the development of inhibitor, prophlaxis should be suggested to patients rather than repetetive treatment when bleeding occurs. The radioactive synovectomy should not be overlooked in countries like ours in which factors can not be used adequately.