ATP7B Gene Variant Profile Identified by NGS in Wilson's Disease.

Background: Wilson's disease (WD) is a copper metabolism disorder caused by ATP7B gene mutations and shows an autosomal recessive pattern of inheritance. We aimed to contribute to the mutation profile of ATP7B and show demographic and phenotypic differences in this study. Materials and methods: The clinical and demographic characteristics of patients who underwent ATP7B gene sequence analysis using next-generation sequencing were evaluated to improve genotype-phenotype correlation in WD. Results: An uncertain significance (D563N) and seven likely pathogenic (Y532D, Y715Y, T977K, K1028*, E1086K, A1227Pfs*103, and E1242K) variants were identified as associated with WD. Uniparental disomy was detected in one case. Conclusion: Our work expanded the ATP7B variant spectrum and pointed to clinical heterogeneity in ATP7B variants among patients with WD. All symptomatic patients had hepatic involvement and were clinically and/or genetically diagnosed with WD in the pediatric period. T977K, A1003V, H1069Q, E1086K, and N1270S variants were associated with hepatic failure.

Does Liver Transplant Improve Neurological Symptoms in Wilson Disease? Report of 24 Cases.

OBJECTIVES: Wilson disease is an inherited disorder that results in copper accumulation in the tissues with liver injury and failure. Orthotopic liver transplant is one of the treatments of choice for this disease. The aim of this study was to compare the neurological symptoms, before and after orthotopic livertransplant, of patients with liver cirrhosis due to Wilson disease, who represent a special group of patients with liver failure. MATERIALS AND METHODS: Between 2007 and 2020, there were 24 patients with Wilson disease resistant to medical treatment who underwent deceased donor orthotopic livertransplant and were followed up for 1 year, 5 years, and 10 years for evaluation with neurological scoring systems. Patients were also evaluated for postoperative complications and survival. RESULTS: Of the 24 patients evaluated, there were 13 (54.2%) female patients and 11 (45.8%) male patients, and the mean age was 34 years (range, 14-57 years). One of the patients died from early postoperative sepsis. After orthotopic livertransplant, disease scores returned to normal in 16 patients and improved in the remaining patients. Before transplant, all patients required help in their daily activities. After transplant, there were significant improvements in some symptoms, and the patients became more independent in their daily lives. CONCLUSIONS: Our study shows that orthotopic liver transplant provides significant improvement in neurological symptoms and quality of life in patients with Wilson disease.

Normal or elevated prolactin is a good indicator to show pituitary stalk interruption syndrome in patients with multiple pituitary hormone deficiency.

OBJECTIVES: To determine the importance of serum prolactin (PRL) in the detection of pituitary stalk interruption syndrome (PSIS) in children with multiple pituitary hormone deficiency (MPHD). We hypothesized that PRL elevation might be a diagnostic indicator of pituitary stalk pathologies. METHODS: Clinical, radiological, and laboratory features of the 50 cases of MPHD were studied. RESULTS: The median age at presentation of the 50 cases (52%, n=26 were female) was 6.61 (0.02-18.9) years. PSIS was detected in 60% (n=30), pituitary hypoplasia in 32% (n=16), partial empty sella in 6% (n=3), and only 2% (n=1) was reported as normal. Out of 50 patients, 21.3% (n=10) were hypoprolactinemic, 44.7% (n=19) were normoprolactinemic, and 34% (n=16) were hyperprolactinemic. The median PRL value was 27.85 (4.21-130) ng/mL in patients with PSIS and 5.57 (0-41.8) ng/mL in patients without PSIS. Additional hormone deficiencies, especially ACTH and LH were detected in follow-up. CONCLUSIONS: Patients with normal or high prolactin levels deserve special attention regarding the possibility of PSIS. Furthermore, we emphasize the importance of regular follow-up and monitoring for multiple pituitary hormone deficiencies in all patients with a single pituitary hormone deficiency.

Multichannel Intraluminal Impedance and pH Monitoring are Complementary Methods in the Diagnosis of Gastroesophageal Reflux Disease in Children.

OBJECTIVE: Gastroesophageal reflux is considered to be a disease when reflux of gastric contents causes troublesome symptoms in infants and children. The aim of this study was to compare the diagnostic value of the multichannel intraluminal impedance monitoring and only pH monitoring in the diagnosis of gastroesophageal reflux disease in infants and children. MATERIALS AND METHODS: This prospective cross-sectional study consisted of pediatric patients aged between 1 month and 18 years old with symptoms suggestive of gastroesophageal reflux disease. Patients were divided into 2 groups as younger than 24 months (group 1) and older than 24 months (group 2). Twentyfour hours multichannel intraluminal impedance-pH monitoring was performed on the patients. RESULTS: This study included 50 pediatric patients. The mean age of the patients was 5.35 ± 4.92 years. In group 1, total reflux events were fewer than group 2 (P = .03) by pH monitoring. In group 1, the number of non-acid reflux events was higher than in group 2 and in group 2, the number of acidic reflux events was higher than group 1 (P = .04). Reflux was detected by multichannel intraluminal impedance-pH monitoring in 13 (40%) of 32 patients who were assessed as negative by pH monitoring. CONCLUSION: It was concluded that more reliable results were obtained when the 2 methods were used together in this study.

Turkish Translation, Validation, and Reliability Analysis of Pediatric Eosinophilic Esophagitis Symptom Severity Module Version 2.0.

The Paediatric Eosinophilic Esophagitis Symptom Severity Modules Version 2.0 (T-PEESv2.0) was developed in English as a valid, reliable questionnaire for follow up. This work aimed to develop a Turkish version of T-PEESv2.0 via translation and cultural adaptation and then to test its validation and reliability. Methods: The PEESv2.0 was translated into Turkish by standardized procedural steps completed in cooperation with the Mapi Research Trust. The final version of the questionnaire was submitted to eosinophilic oesophagitis patients or their parents at 2 times point separated by 1 week. An age-matched control group was used to test the discriminant validity. Construct validity was tested using the Wilcoxon test, and internal consistency was tested using Cronbach's alpha. Test-retest reliability was measured with Cohen's kappa and intraclass correlation coefficient. Results: One hundred twenty-eight participants (70 patients, 58 parents) were enrolled. Fifty-eight (39.1%) of them completed T-PEESv2.0-parent by proxy and 70 (54.7%) were T-PEESv2.0. The Cronbach's alpha coefficient and intraclass correlation coefficient for test-retest reliability were >0.70 for both questionnaires and for all domain (frequency and severity) and total scores. For discriminant validity analysis, subscale (frequency and domain) and total scores of the patient group were compared with those of the control group. The subscale and total scores were significantly different between the groups (P < 0.05). Conclusion: T-PEESv2.0 appeared to be valid and reliable, ready to be introduced as a clinical and research tool for the assessment of patients with eosinophilic oesophagitis.

The Assessment of the Quality of Life in Children with Chronic Liver Disease.

BACKGROUND: Improvement in the quality of life (QoL) of patients with chronic diseases is as important as medical care. This study aimed to evaluate the QoL of children with chronic liver diseases and to determine related factors. METHODS: For this study, 101 children with chronic liver disease, 100 healthy controls, and their parents were included. The Pediatric Quality of Life Scale (PedsQL) was used to evaluate health-related QoL; higher scores indicate better QoL. Patients were evaluated before and after initiation of treatment and being educated about their illness. RESULTS: The mean patient age was 12.9 ± 3.9 years. Total PedsQL scores of the patients and the healthy control group were 38.6 ± 18.9 and 55.4 ± 14.3, respectively (P = .01). The scores of the parents of the patient and control groups were 35.4 ± 14.2 and 54.0 ± 16.9, respectively (P = .02). Patient and parent scores were positively correlated. Significantly higher scores were found in the 5-10 age group compared to the 10-15 and 15-18 age groups in the psychosocial score category. An increase in the QoL scores of patients who were started on medication other than steroid treatment was observed in the sixth month of treatment (35.8 ± 13.4 vs. 33.6 ± 8.9, P = .01, respectively). CONCLUSION: Both children with chronic liver diseases and their parents have a perceived lower QoL than healthy peers. The effect of chronic liver disease on psychosocial health is more pronounced in children older than 10 years. The quality of life is inversely proportional to the severity of the disease. It was observed that primary or symptomatic treatments have a positive impact on the perception of QoL, with the exception of steroid treatment.

Liver Transplantation in Alstrom Syndrome: A Case Report.

Alstrom syndrome is a genetic disorder with autosomal recessive inheritance and multiple organ failure. Hearing loss, childhood obesity, diabetes mellitus, and nonalcoholic fatty liver disease are common disorders in this disease. Degree of nonalcoholic fatty liver disease ranges from benign steatosis to cirrhosis. Since it first description in 1959, 89 cases have been reported, and none in the literature underwent liver transplant. In this report, we describe a 19-year-old male patient with a diagnosis of hearing loss, obesity, and diabetes mellitus started since childhood. He was evaluated for bloody vomiting, and grade 3 esophageal varices were detected, with liver cirrhosis findings made with abdominal tomography. The patient had a Model for End-Stage Liver Disease score of 23, and deceased donor liver transplant was planned. After an appropriate donor was identified, the patient underwent liver transplant with an operation lasting approximately 6 hours. Cold ischemia time was about 5 hours, and anastomosis time was about 30 minutes. The patient was extubated on posttransplant day 1. On posttransplant day 10, his vital parameters remained normal, but he had blurred consciousness and loss of orientation. Neurological examination and imaging revealed minimal subdural effusion and mild cerebral cortical dysfunction in electroencephalogram. The patient's symptoms improved after medical treatment, and the patient was discharged on day 13 posttransplant. At the month 24 outpatient follow-up, the patient had no problems. Alstrom syndrome is an autosomal recessive genetic disorder with multiple organ failure. Although various degrees of liver disease have been described in the literature that may progress to cirrhosis of the liver, our present case is considered original because of the absence of liver transplant descriptions in the literature.

The effectiveness of serum amyloid A for prediction of neonatal cholestasis associated with parenteral nutrition in premature infants.

Özkan H, Köksal N, Dogan P, Güney-Varal I, Bagci O, Özgür T. The effectiveness of serum amyloid A for prediction of neonatal cholestasis associated with parenteral nutrition in premature infants. Turk J Pediatr 2019; 61: 26-33. Parenteral nutrition (PN) has been widely used in premature infants untill enteral feeding can be tolerated. Cholestasis is an important complication of PN. The objective of this study was to evaluate the role of serial measurements of serum amyloid A (SAA) during PN and compare its` effectiveness with C-reactive protein (CRP) and procalcitonin (PCT). We also aimed to determine the risk factors for PN associated cholestasis (PNAC). Premature infants ( < 34 weeks` gestational age) who were started on PN during hospitalization were included in this prospective study. SAA, CRP and PCT levels were measured on days 0, 3, 7, 14, and 21 of PN in all infants. Infants who had PN for less than 2 weeks, who developed sepsis and/or necrotizing enterocolitis were excluded. A total of 85 infants were included. The mean birth weight was 1226±329 g, and the mean gestational age was 29.4±1.8 weeks. The birth weight of infants who developed cholestasis were significantly lower. Enteral nutrition was started significantly later in infants with cholestasis. CRP and PCT did not correlate with conjugated bilirubin levels at any time point. SAA levels on days 7 and 14 showed a significant correlation with conjugated bilirubin levels. SAA levels on day 7 was found to have the highest sensitivity for prediction of PNAC. Low birth weight, late commencement of enteral feeding, and prolonged PN were the main risk factors for PNAC development. This is the first study that shows the predictive value of SAA for PNAC development. We suggest that SAA may be used as an accurate and useful biomarker for prediction of PNAC in high risk premature infants receiving PN.

Liver Involvement in Congenital Hypopituitarism.

OBJECTIVE: Cholestatic jaundice in early infancy is a complex diagnostic challenge. Cholestasis caused by endocrine disease is rare and poorly recognized. The aim of this paper is to report patients with liver dysfunctions resulting from hypopituitarism. METHODS: Six patients with liver dysfunction diagnosed as hypopituitarism were studied and followed up at Uludag University Faculty of Medicine. RESULTS: The median age of the patients at first presentation was 2.5 mo. Three patients were diagnosed with congenital hypopituitarism at the first visit, and the other three were diagnosed during follow-up. Serum aminotransferase levels were very high in two patients and only moderately elevated in the others. Combined adrenal, thyroid, and growth hormone deficiencies were diagnosed in two patients, while remaining 4 patients had various combinations of adrenal, thyroid, and growth hormone deficiencies. Liver function abnormalities resolved between 10 d and 2 mo follow-up after hormone replacement therapy. CONCLUSIONS: Abnormal liver biochemical test results due to hormonal deficiencies in infants should be considered in the differential diagnosis by pediatricians. Hormone replacement therapy is the basis of treatment.

Vedolizumab treatment in a patient with X-linked agammaglobulinemia, is it safe and efficient?

Çekiç S, Özgür T, Karali Y, Özkan T, Kiliç SS. Vedolizumab treatment in a patient with X-linked agammaglobulinemia, is it safe and efficient? Turk J Pediatr 2019; 61: 937-940. The loss of inflammatory regulation resulting from the absence of B-lymphocytes leads to a risk for autoimmune and autoinflammatory complications. There is no data on the use of Vedolizumab in patients with X-linked agammaglobulinemia (XLA) as well as children with another primary immunodeficiency (PID) diseases. A 4-year-old boy was admitted to our clinic with a history of recurrent respiratory tract infections. He was diagnosed with XLA based on extremely low immunoglobulins, very low level of B cells, genetic mutation of BTK gene, and family history. At the age of 8, he suffered from intermittent fever attacks, abdominal pain, weakness, oral aft, and weight loss. His clinical and laboratory features were consistent with inflammatory bowel disease. Histopathological examination of the biopsy material obtained from terminal ileum, colon and cecum showed Crohn`s disease. Initially, he was treated with prednisolone and infliximab. Because of the lack of response, infliximab treatment was switched to adalimumab. Terminal ileum was resected to relieve obstruction complication. Although he had been treated with adalimumab, a significant improvement was not observed. Vedolizumab (Entyvio™), a humanized monoclonal antibody α4ß7 integrin-receptor antagonist, was commenced. After treatment with vedolizumab, his fever and abdominal pain attacks reduced, his total daily calorie intake increased and weight gain improved. He began to walk again and continued his school education properly. No side effects were observed in 18 months. This is the first immunocompromised child treated with vedolizumab. The symptoms of the patient receded and no side effect were seen during the treatment.

Vitamin B12 deficiency associated with hyperbilirubinemia and cholestasis in infants.

OBJECTIVE: To study the correlation between vitamin B12 deficiency and hyperbilirubinemia and cholestasis in infants. METHODS: The study group consisted of 215 infants who were tested for serum B12 and bilirubin levels out of 335 cases referred to the Centre from June 2011 to 2016 as a part of the screening program established by the Ministry of Health. The following information was obtained from the case files: demographic data; background; family history; serum vitamin B12, folate, plasma homocysteine, and urine methylmalonic acid (MMA) levels; and direct, indirect, and total bilirubin levels. RESULTS: About 48.8 percent of cases had vitamin B12 deficiency. No significant differences were found when those cases with vitamin B12 deficiency and those without vitamin B12 deficiency were compared in terms of total, direct, or indirect bilirubin levels. Only two cases (0.9 percent) had cholestasis. CONCLUSION: The study suggests vitamin B12 deficiency is a common phenomenon (48.4 percent), similar to what has been suggested by other studies conducted in Turkey. Therefore, the presence of vitamin B12 deficiency in cases with cholestasis or hyperbilirubinemia may show an association. To prove the correlation between them, more studies are required.

Helicobacter pylori Infection in Children: Nutritional Status and Associations with Serum Leptin, Ghrelin, and IGF-1 Levels.

BACKGROUND: Helicobacter pylori is associated with gastrointestinal diseases such as gastritis, peptic ulcers, malignancy and lymphoma, and extra-gastrointestinal conditions. H. pylori infection is negatively associated with children's growth. Chronic inflammation of the stomach that results in the loss of appetite and, dysregulation of neuroendocrine hormones such as leptin, and ghrelin are the probable reasons of this negative association. The objective of this study is to determine the serum levels of leptin, ghrelin, and IGF-1 in H. pylori-infected children and their relations with growth. MATERIALS AND METHODS: A hundred and sixty-one school children aged between 6 and 14 years were selected randomly from five primary schools representing a cross section of population. Demographic and sociocultural characteristics, and anthropometric measurements were recorded. Serum H. pylori IgG, insulin-like growth factor-1, leptin, and ghrelin levels were measured in all children. The children were grouped according to the nutritional status and Helicobacter pylori seropositivity. Nutritional indices were compared among groups in association with serum leptin, ghrelin, and insulin-like growth factor-1 levels. RESULTS: H. pylori IgG positivity was found in 34.2%, and 14.9% of children were malnourished. H. pylori seropositivity was significantly higher in older ages (10.32 ± 2.26 vs 9.53 ± 2.36 years, p = .036), and body weight and height Z scores were significantly lower in H. pylori-seropositive children (-0.33 ± 1.08 vs 0.04 ± 1.26, p = .044 and 0.13 ± 0.92 vs 0.23 ± 0.91, p = .018 respectively). H. pylori seropositivity was found to be an independent risk factor for shorter body height (p = .01). Serum leptin, ghrelin, and IGF-1 levels were not associated with H. pylori IgG seropositivity (0.35 vs 0.55 ng/mL, p = .3; 3267.4 ± 753.0 vs 2808.3 ± 911.4 pg/mL, p = .06; 470 ± 176 vs 521 ± 179 ng/mL, p = .32, respectively). CONCLUSIONS: Children infected with H. pylori are prone to short stature. This effect seems to be independent of neuroendocrine hormones.

Retrospective evaluation of pubertal development and linear growth of girls with Turner Syndrome treated with oral and transdermal estrogen.

OBJECTIVE: The objective of the study was to evaluate the pubertal development and linear growth of Turner Syndrome (TS) girls regularly monitored in our department. PATIENTS AND METHODS: The data of 13 patients with TS were evaluated retrospectively. Left hand radiograms were evaluated by three different pediatric endocrinologists to determine bone ages. RESULTS: Six (46.2%) of the TS girls were treated with oral estrogens, while 7 (53.8%) were treated with transdermal estrogen. The ratios of chronological age (CA) difference to bone age (BA) difference (ΔCA/ΔBA) in two groups of patients treated with estrogen were compared at the time of the last control. The ΔCA/ΔBA ratio in the transdermal estrogen-treated group was significantly higher (p=0.005). These results suggest slower BA progression in the TS girls treated with transdermal estrogen. CONCLUSION: BA advancement is less significant with transdermal estrogen, which is associated with adequate breast development.

Mannose-binding lectin gene polymorphism and chronic hepatitis B infection in children.

BACKGROUND/AIMS: Mannose-binding lectin (MBL) is a member of innate immune system that activates complement system through lectin pathway. MBL deficiency is associated with susceptibility to infectious diseases. In this study, the relation between MBL gene polymorphism and chronic hepatitis B infection in children is evaluated. PATIENTS AND METHODS: The study included 67 children with chronic hepatitis B and 99 healthy controls. The hepatitis B patients were divided into immuntolerant, chronic inactive, and treatment groups according to their laboratory findings. MBL gene codon 52, 54, and 57 polymorphisms were studied with polymerase chain reaction in all patients and controls. The associations of MBL gene polymorphism with clinical, laboratory, and histopathologic findings were evaluated. RESULTS: Homozygous codon 54 polymorphism of MBL was found significantly higher in chronic hepatitis B patients than controls. Rate of the polymorphism was similar in all groups and, responsive and nonresponsive patients in the treatment group. CONCLUSIONS: The hepatitis B patients who are homozygous for codon 54 of MBL are prone to develop chronic infection. Longitudinal studies with larger groups are needed.

The diagnostic value of endoscopic narrow band imaging in helicobacter pylori gastritis in children.

BACKGROUND/AIMS: In this study we aimed to investigate the sensitivity and specificity of Narrow Band Imaging (NBI) in H. pylori gastritis and compare them with those of rapid urease test and urea breath test. MATERIALS AND METHODS: A hundred sixty-five children who admitted to Uludag University Pediatric Gastroenterology Unit between October 2009-March 2011 with upper gastrointestinal symptoms were consecutively enrolled. During the endoscopy procedure gastric corporeal, antral and fundal images were obtained, afterwards the same areas were visualized with narrow band imaging and images were recorded again. RESULTS: The study included 68 (41.2%) boys and 97(58.8%) girls. The mean age of the patients were 11.88±4.55. Tissue culture positivity and/or histopathological staining for H. pylori was determined in 56 (33.9%) patients (Group 1) and the other patients (n:109, 43.6%) didn't have an evidence of H. pylori infection (Group 2). Narrow band images have supported H. pylori infection in 56.4%. The sensitivity of narrow band images for determining H. pylori infection was 92.86% (95% CI 82.7-98), specificity was 62.39% (95% CI 52.6-71.5). CONCLUSION: Our study is the first to show the role of NBI in diagnosing H. pylori infection in children, as well as determining the sensitivity and specificity of the technique. The specificity is low; however, we suggest that the specific mucosal view of H. pylori gastritis provided by NBI is useful for identifying the areas from which the biopsies should be taken. Moreover, by using this technique, treatment of H. pylori infection may be initiated immediately without performing rapid urease test and without waiting for histopathology report and tissue culture.

The determination of normal percentages of syncytiotrophoblastic knots in various regions of placenta: where to count the syncytial knots.

OBJECTIVE: The marginal, basal and subchorial regions of the placenta are considered to be more hypoxic than other regions. Therefore, it is not recommended to determine the increase in syncytiotrophoblast knots, based on the major morphological change in placental hypoxia, from the samples taken from these regions. However, the normal count of knots at various regions of placenta is not investigated. MATERIAL AND METHOD: In this study we have sampled morphologically and clinically normal placenta with eccentric cord insertion from various sites, either close to cord entrance or away from it (marginal, non-marginal basal, non-marginal subchorial, and nonmarginal midparanchymal). The number of knots was calculated on a total of at least 100 villi for each placental sample. The normal amount of knots in different regions and comparison between them were investigated. Twenty-eight placentas with eccentric cord insertion were sampled in the same manner. Hot spots from the above mentioned regions were counted in a total of 100 villi. RESULTS: No significant difference was found between the dual comparison of the mean percentages of different regions (p: 0.148). The variety of hypoxia in different regions of the placenta could not be demonstrated in this study. CONCLUSION: It is found that there is no difference in perfusion that can be morphologically demonstrated with increase in syncytiotrophoblast knot, between different regions of placenta.

RSV frequency in children below 2 years hospitalized for lower respiratory tract infections.

Respiratory syncytial virus (RSV) is the most frequent agent of acute lower respiratory diseases and creates a significant burden of disease in children under 5 years all over the world. RSV causes severe lower respiratory tract infections (LRTI) that require hospitalization, especially in children ≤2 years. The aim of this study was to determine the incidence of RSV in children ≤2 years of age hospitalized for LRTI. Children ≤2 years of age hospitalized for one year for LRTI in the three largest hospitals of Bursa City Center, Turkey were evaluated. These three hospitals comprise 67.5% of all child beds in central Bursa, so this study allows us to evaluate the total disease burden and hospitalization incidence in central Bursa. Nasal swabs of the children were evaluated with RSV Respi- Strip (Coris Bioconcept Organization). A total of 671 children were hospitalized for LRTI, and 254 (37.9%) had at least one hospitalization that was positive for RSV. Of all patients with LRTI, 54.8% (368/671) were hospitalized for acute bronchiolitis, while 45.2% (303/671) were hospitalized for pneumonia. Of patients with acute bronchiolitis or pneumonia, 41% (151/368) and 34% (103/303) were RSV+, respectively. Of RSV+ hospitalized children, 59.5% (151/254) were diagnosed as acute bronchiolitis and 40.5% (103/254) as pneumonia. The annual incidences of hospitalization due to LRTI, acute bronchiolitis and pneumonia were 20.5/1000, 11.2/1000 and 9.3/1000, respectively, in children ≤2 years of age. The annual incidences of hospitalization due to RSV+ LRTI, acute bronchiolitis and pneumonia were found as 7.8/1000, 4.6/1000 and 3.2/1000, respectively, in children ≤2 years of age. More than one-third of all children hospitalized with LRTI (38.3%, n=257) were in the 0-3 months age group. Compared to other age groups, RSV positivity was highest in that age group for acute bronchiolitis (57%), pneumonia (39.5%) and also total children with LRTI (47.9%). RSV is a very important cause of lower respiratory infections in children ≤2 years of age and occurred most frequently in those 0-3 months of age in our study. Since there is no other study assessing the annual hospitalization incidence of RSV+LRTIs in one city in Turkey, our study has unique importance for providing valuable statistical data about RSV+LRTIs.

Comparison of the efficacy of serum amyloid A, C-reactive protein, and procalcitonin in the diagnosis and follow-up of necrotizing enterocolitis in premature infants.

PURPOSE: The aim of this study was to compare the efficacy of serum amyloid A (SAA) with that of C-reactive protein (CRP), and procalcitonin (PCT) in diagnosis and follow-up of necrotizing enterocolitis (NEC) in preterm infants. METHODS: A total of 152 infants were enrolled into this observational study. The infants were classified into 3 groups: group 1 (58 infants with NEC and sepsis), group 2 (54 infants with only sepsis), and group 3 (40 infants with neither sepsis nor NEC, or control group). The data including whole blood count, CRP, PCT, SAA, and cultures that were obtained at diagnosis (0 hour), at 24 and 48 hours, and at 7 and 10 days were evaluated. RESULTS: A total of 58 infants had a diagnosis of NEC. Mean CRP (7.4 ± 5.2 mg/dL) and SAA (46.2 ± 41.3 mg/dL) values of infants in group 1 at 0 hour were significantly higher than those in groups 2 and 3. Although the area under the curve of CRP was higher at 0 hour in infants with NEC, there were no significant differences between groups with respect to the areas under the curve of SAA, CRP, and PCT at all measurement times. Levels of SAA decreased earlier than CRP and PCT in the follow-up of NEC (mean SAA levels were 45.8 ± 45.2, 21.9 ± 16.6, 10.1 ± 8.3, and 7.9 ± 5.1 mg/dL at evaluation times, respectively). Levels of CRP and SAA of infants with NEC stages II and III were significantly higher than those with only sepsis and/or NEC stage I. CONCLUSIONS: Serum amyloid A, CRP, and PCT all are accurate and reliable markers in diagnosis of NEC, in addition to clinical and radiographic findings. Higher CRP and SAA levels might indicate advanced stage of NEC. Serial measurements of SAA, CRP, and PCT, either alone or in combination, can be used safely in the diagnosis and follow-up of NEC.

Pediatric Gaucher experience in South Marmara region of Turkey.

BACKGROUND/AIMS: The aim was to represent the clinical characteristics of six children with Gaucher disease and to describe the results of three years' enzyme replacement therapy. MATERIAL AND METHODS: The data of six Gaucher patients treated with imiglucerase for more than three years were collected. Age, gender, anthropometric measurements, physical examination findings, ophthalmological evaluations, blood counts, liver function tests, liver and spleen sizes, and bone mineral density of the patients were recorded. Clinical presentations, progressions and therapeutic achievements were evaluated. RESULTS: At the time of diagnosis, all patients were clinically type 1 Gaucher disease. Bone lesions, thrombocytopenia and hepatosplenomegaly were found in all patients at diagnosis. After three years of therapy, normalization of blood cell counts, liver and spleen sizes, bone mineral density, and growth was achieved in all patients. Two patients developed neurological symptoms on enzyme replacement therapy, and the diagnosis in these patients was changed to Gaucher type 3. We observed progression of vertebral bone lesions in three patients despite treatment. CONCLUSIONS: The results of enzyme replacement therapy are satisfying, but the possibility of deterioration in clinical findings despite therapy should be kept in mind.

The efficacy of serial serum amyloid A measurements for diagnosis and follow-up of necrotizing enterocolitis in premature infants.

PURPOSE: The purpose of this study was to evaluate the efficacy of serial serum amyloid A (SAA) measurements in diagnosis and follow-up of necrotizing enterocolitis (NEC) in preterm infants. METHODS: A total of 144 infants were enrolled in this observational study. The infants were classified into three groups: group 1 (infants with NEC and sepsis), group 2 (infants with sepsis), and group 3 (no sepsis and NEC, control group). Data including serial whole blood count (WBC), SAA measurements that were obtained at the initial work-up of NEC and/or sepsis episode (0 day), at 24, 48 h, 7, and 10 day were evaluated. In addition, initial and serial follow-up abdominal radiographies were obtained. RESULTS: A total of 50 infants were diagnosed NEC. Mean SAA values (43.2 +/- 47.5 mg/dl) of infants in group 1 at 0 h were significantly higher than those in group 2 and group 3. The percentage of infants with abnormal SAA levels was significantly higher in group 1 compared with that in group 2 at 24 h. In addition, the percentage of infants with abnormal SAA levels was slightly but not statistically higher in stage 2 and stage 3 NEC group compared with that stage 1 NEC at 0, 24, 48 h. SAA levels started to decline at 48 h of onset through day 10. The cut-off value for SAA for differentiating NEC from sepsis was 23.2 mg/dl. CONCLUSION: SAA may be recognized as an accurate laboratory marker in addition to clinical and radiographic findings for NEC diagnosis. It can also be used for determining the severity of NEC and response to therapy in infants with NEC.