Yenidoğan ve süt çocukluğunda kolestaz

During the newborn and infancy period, it is an important to demonstrate the condition which causes cholestatic liver diseases. If direct bilirubin level is more than 20% of total bilirubin, it is defined as cholestasis. Especially early diagnosis of diseases including biliary atresia, tyrosinaemia, galactosaemia is crucial for prevention of permanent damage in the future and for benefit from early treatment. Therefore, total, direct and indirect bilirubin levels should be measured in all newborns with jaundice lasting more than two weeks. If 20% of total bilirubin is direct bilirubin, liver-related disorders should be questioned. In this review, we aimed to show which clinical and laboratory features should be considered to demonstrate the cause of cholestatic diseases. (Turk Arch Ped 2012; 47: 1-7

Kronik karaciğer hastalığı olan çocukluklarda doğal antikoagülan düzeyleri

Aim: The aim of this study was to evaluate the serum levels of natural anticoagulants and their possible role as a marker in determining the severity of liver disease

Clinical characteristics and genetic analysis of cystic fibrosis transmembrane conductance reseptor‐related disease

Background Cystic fibrosis (CF) transmembrane conductance receptor (CFTR)-related disease is diagnosed in patients affected by CFTR dysfunction who do not fully meet the CF diagnostic criteria. Only 2% of all CF patients have CFTR-related disease. We define the demographic characteristics of such patients, described the performance of mutational analyses, and describe the clinical findings

Clinical characteristics and genetic analysis of cystic fibrosis transmembrane conductance reseptor-related disease

Background Cystic fibrosis (CF) transmembrane conductance receptor (CFTR)-related disease is diagnosed in patients affected by CFTR dysfunction who do not fully meet the CF diagnostic criteria. Only 2% of all CF patients have CFTR-related disease. We define the demographic characteristics of such patients, described the performance of mutational analyses, and describe the clinical findings

Long-Term Follow-Up of Children with Inflammatory Bowel Disease: Evaluation of 53 Cases

Introduction: In this study it was aimed to determine the long-term demographic, clinical and laboratory characteristics, together with the responses to therapy, in children diagnosed with inflammatory bowel disease (IBD)

Importance of the Human Leukocyte Antigen Tissue Type in Detecting Celiac Disease in Two Families

Celiac disease (CD) is strongly related to human leukocyte antigens (HLA) genes. The incidence of CD is very low in patients without the HLA-DQ2.5 and HLA-DQ8 leukocyte antigens. This study presents two families with CD and shows that the disease might be familial. The determination of HLA tissue groups is important and family screening tests may lead to early diagnose of the disease. In both of the families, the patients' siblings and fathers were asymptomatic, but diagnoses were made after family screening tests. HLA tissue typing was performed in all family members. The patients, siblings and fathers carried the HLADR3-DQA1*0501-DQB1*0201 tissue groups in both two families while this tissue group was not present in the mothers. As CD is strongly related to certain HLA groups and has a genetic predisposition, all members of a family must be screened when a case of CD is diagnosed in any family member. On the other hand, the determination of the HLA tissue type in patients with both symptoms and very positive serologic tests is important in terms of suspicion of the disease

Consensus statement on diagnosis, treatment and follow-up of cow's milk protein allergy among infants and children in Turkey

The present paper aims to provide experts' consensus on diagnosis and management of cow's milk protein allergy (CMPA) among infants and children in Turkey, based on review of available evidence-based guidelines, publications and experts' clinical experience. The experts agreed that CMPA diagnosis should be based on symptomatic evaluation and diagnostic elimination diet as followed by implementation of an open challenge test after disappearance of symptoms and confirmation of CMPA diagnosis in re-appearance of symptoms. For breastfed infants, differential diagnosis involves withdrawal of cow's milk-containing products from the mother's diet, while calcium supplements and appropriate dietary advice are given to mothers to prevent nutritional deficiency. For infants not breastfed exclusively, cow's milk-based formula and any complementary food containing cow's milk protein (CMP) should be avoided. The first line treatment should be extensively hydrolyzed formula (eHF) with use of amino acid-based formula (AAF) in severe cases such as anaphylaxis, enteropathy, eosinophilic esophagitis and food protein induced enterocolitis along with cases of multiple system involvement, multiple food allergies and intolerance to eHF. Introduction of supplementary foods should not be delayed in CMPA, while should be made one by one in small amounts and only after the infant is at least 17 weeks of age. Infants who are at-risk can be identified by family history of atopic disease. Exclusive breastfeeding for 4-6 months (17-27 weeks) is recommended as the best method of infant allergy prevention. There is no evidence that modifying the mother's diet during pregnancy and/or breast-feeding and delaying solid or even potentially allergic foods beyond 4-6 months in infants may be protective against allergy among at-risk infants. When exclusive breastfeeding is not possible, at-risk infants should get a partially or extensively hydrolyzed formula (pHF or eHF) to prevent allergy until risk evaluation by a health professional. In conclusion, the present consensus statement provides recommendations regarding diagnosis, prevention and management of CMPA in infants and children in Turkey, and thus expected to guide physicians to optimize their approach to CMPA and decrease burden of the disease on infants and their caregivers

Maternal Psychopathology and Psychomotor Development of Children With GERD

Objectives: The relation between gastroesophageal reflux disease (GERD) and maternal psychopathology as well as the role of impairments in mother child interactions in the perpetuation of feeding problems in children with GERD was previously implicated but not confirmed. The present study aimed to study the relation between maternal psychopathology and feeding problems in children with GERD and the effects of GERD on the psychomotor development of children