Elevations of serum aminotransferase in muscular dystrophy

Albayrak, Meryem/0000-0003-2711-5150WOS: 000262761200015PubMed: 19115161

Case 3: Fetal intracardiac tumour - A feature of a genetic disease? - Diagnosis: Tuberous sclerosis

WOS: 000238197800024PubMed: 16754565

Transposition of the great arteries in a newborn whose mother was treated with carbamazepine during pregnancy

WOS: 000254244100044PubMed: 17785243

Do cerebral blood flow velocities change in iron deficiency anemia?

WOS: 000251077300006PubMed: 17984692Infants with iron deficiency had lower scores when tested for mental and motor development than their peers with better iron status. The aim of this study was to examine cerebral blood flow velocity in infants with iron deficiency anemia. Thirty-six infants (27 male, 9 female) with iron deficiency anemia, aged 6 to 36 months were divided into 2 groups according to the hemoglobin (Hb) values [group 1 (n = 23) Hb Hb >= 10g/dL]. In anterior and middle cerebral arteries only end-diastolic velocity (EDV) was increased in group 1 as compared with group 2 (P = 0.05 and P = 0.016, respectively), whereas in posterior cerebral artery both EDV and peak-systolic velocity were different between the groups (P = 0.024 and P = 0.004). Both peak-systolic velocity and EDV showed significant correlation with Hb level in the posterior cerebral artery (r = -0.38, P = 0.023 and r = - 0.35, P = 0.037) but not in the anterior and middle cerebral arteries. Increased cerebral blood flow velocities in children with lower Hb values may be due to increased cardiac output, decreased vascular resistivity caused by anemia

Remembering the Importance of an Old Friend: History Taking in Preoperative Evaluation of Healthy Children: A Single Center Experience

Albayrak, Meryem/0000-0003-2711-5150WOS: 000386045600005Objective: To investigate the consequences of routine laboratory tests that lead to surgical delay or high cost in patients with a normal medical history and physical examination who undergo minor surgical interventions. Patients and Method: Files of 1,322 patients aged between 0-16 years that had undergone elective surgical intervention within six years were reviewed. Results: Of the 1,322 patients, 1,246 (94.3%) had normal physical examination and laboratory findings. Seventy-six children who had abnormalities in laboratory findings and physical examination were referred to pediatrics. Of the 76 pediatric referees, 42 (55.3%) were reevaluated and were diagnosed with upper respiratory tract infection (n=23; 30.2%), iron deficiency anemia (n=5; 6.5%), innocent murmur (n=4; 5.3%), thalassemia minor (n=2; 2.6%), lower respiratory tract infection (n=2; 2.6%), urinary tract infection (n=1; 1.3%), mumps (n=1; 1.3%), acute gastroenteritis (n=1; 1.3%), minimal aortic and tricuspid valve insufficiency (n=1; 1.3%), minimal aortic stenosis (n=1; 1.3%), atrial septal defect (n=1; 1.3%). Surgical interventions were delayed until the recovery of the infectious diseases. In 25 of the patients, repeated tests showed normal ranges after the second test; however nine (n=9) of the patients showed increased or decreased numbers of white blood cell counts and whose medical history and physical examination revealed signs and symptoms related to infection. Conclusion: Routine laboratory tests contribute little to preoperative evaluation of children with normal history and physical examination undergoing low grade surgery

Intracranial Hemorrhage Due To Vitamin K Deficiency in Infancy: Clinical and Radiological Findings

WOS: 000264808100004This retrospective study presents clinical and radiological findings and outcomes of 25 infants with intracranial hemorrhage due to vitamin K deficiency and evaluates the risk factors. Two of the infants (8%) were classical type and the others were late onset. Of the patients, 18 (72%) were male and 7 (28%) were female. Twenty four infants (96%) were being fed exclusively on breast milk. Eighteen of them (72%) had not received vitamin K prophylaxis at birth. The most disabling clinical symptoms were vomiting (44%) and convulsions (40%). The most common presentations were bulging fontanel (40%) and paleness (40%). Eleven patients (44%) showed intracranial hemorrhages at more than one site. Intraparenchymal hemorrhage was the commonest (68%) type of hemorrhage. Twelve of cases (57%) were developmentally normal. Mortality rate was 8%. Late type is frequently associated with intracranial hemorrhage particularly intraparenchymal. Lack of administration of vitamin K at birth to breastfeed babies is the most important risk factor for intracranial hemorrhage

Helicobacter pylori infection in mother and infant pairs in Anatolia

KISA, Ucler/0000-0002-8131-6810WOS: 000283606200001PubMed: 20872322Background/aims: The aim of this prospective study was to determine the seroprevalence rates of Helicobacter pylori in mother and infant pairs and to discuss the possible fecal-oral transmission route of Helicobacter pylori infection in the early years of life. Methods: Forty-eight mother-child pairs were followed for 12 months. Helicobacter pylori IgG and hepatitis A virus (HAV) IgG levels were measured in maternal sera, infant sera and breast-milk samples at birth and in breast-milk samples and infant sera at follow-up visits. Results: At birth, the rate of Helicobacter pylori positivity was 81.25% in breast-milk and 95.8% in maternal and infant sera. Although there was a decrease in seropositivity in both baby sera and breast-milk at the age of nine months, an increase was observed in the 12(th) month. Hepatitis A virus IgG was measured to show whether Helicobacter pylori and hepatitis A virus use the same transmission routes. Hepatitis A was positive in all infants' sera, in 95.8% of mothers' sera, and in 68.75% of breast-milk samples. Seropositivity rates in infants whose mothers were seropositive for Helicobacter pylori and hepatitis A virus decreased gradually. There was an increase after the 9(th) month of life. Conclusions: Helicobacter pylori seroprevalence rates are high in Anatolia. It is possible that the decrease in breastfeeding with increased introduction of supplemental foods may lead to an increased risk of exposure to Helicobacter pylori.Carmosan 1st Scientific Researches and Projects CompetitionThis study was granted by Carmosan 1st Scientific Researches and Projects Competition, 1998. We would like to express our special thanks to Prof. Dr. Ender Pehlivanoglu for encouraging us in each phase of the study

The spectrum of FMF mutations and genotypes in the referrals to molecular genetic laboratory at K&Aumlaut +/- r&Aumlaut +/- kkale University in Turkey

WOS: 000263798400019PubMed: 18389382Familial Mediterranean Fever (FMF) is an autosomal recessive genetic disorder characterised by recurrent and self-limited abdominal pain, synovitis and pleuritis. MEFV gene mutations are responsible from the disease and its protein product, pyrin or marenostrin, plays an essential role in the regulation of the inflammatory reactions. MEFV gene contains 10 exons and most of the mutations have been found on the last exon. Up to date, 152 mutations and polymorpisms have been reported inwhere V726A, M694V, M694I, M680I and E148Q are the most common mutations. In this study, MEFV allele frequencies of 136 individuals (60 from Pediatry, 76 from Internal Medicine) have been evaluated, and compared with each other. Asymptomatic individuals with FMF family history (4 from Pediatry, 6 from Internal Medicine) were excluded from the analysis. The prominent mutations indicated in the Pediatry group are V726A, M694V and M680I (G/C) and with the allele frequency of 0.06, 0.05 and 0.04 respectively while they were E148Q, M694V, M680I (G/C) in the Internal Medicine group with the allele frequency of 0.12, 0.08 and 0.04. The E148Q mutation is significantly overrepresented in the adult referrals (P = 0.02). Mutation on both alleles was observed in only 12% of cases. Overall mutation frequency was low, seen in 26.2% (66/252). However, when only diagnosed patients were analyzed it is 72.7% (16/22). It is also interesting that 63% of individuals are female that there may be sex influence on FMF phenotype

Clinical and etiologic evaluation of the children with chronic urticaria

Annual Congress of the European-Academy-of-Allergology-and-Clinical-Immunology -- JUN 11-15, 2016 -- Vienna, AUSTRIAKaya, Aysenur/0000-0002-8183-0190;WOS: 000387572300012PubMed: 27931300Background: Chronic urticaria (CU) is a skin disorder defined as daily or almost daily exhibition of pruritic and transient wheals that last for >6 weeks. CU is divided into two subtypes: chronic spontaneous urticaria (CSU) and chronic inducible urticaria (CIndU). Objectives: To evaluate the clinical features, possible causes, associated findings, and laboratory results of different subtypes of CU in children according to a new classification. Methods: In this study, we evaluated the clinical features, laboratory investigations, and provocation tests of children with different subtypes of CU according to a new classification. Results: Two hundred and twenty-two children (59.9% girls) were enrolled in the study. Of the study patients, 59.9% and 40.1% were diagnosed as having CSU and CIndU, respectively. Antithyroid antibody levels were positive in 7.1% of the patients with CSU, 32.8% of the children had positive 14C-urea breath test results, and 6.5% of the patients had positive stool examination results for parasites. Autologous serum skin test results were positive in 53.5% of the patients with CSU. Of the patients with CIndU, 77.5% had symptomatic dermographism, 16.8% had cold urticaria, 2.2% had cholinergic urticaria, 2.2% had solar urticaria, and 1.1% had aquagenic urticaria. Conclusion: Children with CSU represent the majority of patients with CU, and more than a half of these patients might have autoimmune urticaria. Symptomatic dermographism was the most common type of CIndU.European Acad Allergol & Clin Immuno