Browsing by Author "Gokturk, Bahar"

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DiGeorge Syndrome
(2016) Gokturk, Bahar; Reisli, Ismail
DiGeorge syndrome, which is caused by abnormal development and migration of neural crest cells, is the most common microdeletion syndrome. The phenotype is variable due to the existence of more than 35 genes in the typical deletion region. However, the genotypephenotype correlation is very weak in this patient group. Every patient with facial dysmorphism, delay in developmental milestones and macrothrombocytopenia should be questioned for the other specific findings of DGS, and tested if needed. All findings do not have to be together to make the diagnosis. It should be known that patients experience different problems at different stages of their lives, and genetic counseling should be provided to the patients and their families. Our aim in this review was to provide detailed information and raise awareness about DGS as it is common but rarely diagnosed, and presents many difficulties during follow-up.
Familial 22q11.2 deletion syndrome with autosomal dominant inheritance
(2016) Gokturk, Bahar; Gokdemir, Mahmut; Reisli, Ismail; Yildirim, Mahmut Selman
22q11.2 deletion syndrome is the most frequent microdeletion syndrome in humans and caused by hemizygote deletion on only one chromosome. Most of probands have a de novo deletion of 22q11.2, but 8-20% have inherited the 22q11.2 deletion from a parent (autosomal dominant mutation). Genotype-phenotype correlation is weak in this patient group. We aimed to present three members in the same family due to an autosomal dominant inheritance with 22q11.2 deletion and different clinical findings.
Long-Term Follow-Up of a Case with Nijmegen Breakage Syndrome
(2018) Gokturk, Bahar; Genc Yuzuak, Serap; Hazar Sayar, Esra; Yildirim, Mahmut Selman; Reisli, Ismail
The Nijmegen Breakage Syndrome (NBS) is a rare chromosomal instability disorder clinically characterized by microcephaly, typical facial appearance, growth and mental retardation, immunodeficiency and a significant predisposition to lymphoid malignancy. The gene mutated in NBS, NBS1, has been mapped to the 8q21 chromosome. The product of this gene is a protein with a molecular weight of 95 kDa named nibrin. One of the common features of NBS is dysregulation of both cellular and humoral arms of the immune system, resulting in recurrent bacterial and viral infections, mainly of the respiratory tract. NBS is a rare syndrome. It should be considered that NBS may be associated with immunodeficiency
Misdiagnosis of Asthma May Delay the Post Infectious Bronchiolitis Obliterans Diagnosis
(2019) Onay, Zeynep Reyhan; Gursoy, Tugba Ramasli; Aslan, Ayse Tana; Eyubolgu, Tugba Sismanlar; Kibar, Busra Sultan; Pekcan, Sevgi; Hangu, Melih; Kose, Mehmet; Budakoglu, Isil Irem; Gokturk, Bahar
A Novel Homozygous Mutation With Different Clinical Presentations in 2 IRAK-4-Deficient Siblings: First Case With Recurrent Salmonellosis and Non-Hodgkin Lymphoma
(2018) Gokturk, Bahar; Casanova, J.L.; Picard, C.; Ayvaz, Cagdas D.; Erman, B.; Tezcan, I.; Ozdemir, H.; Ozel, A.; Reisli, I.; 30073964
Oxidant and Antioxidant Balance in Patients with Childhood Non-Cystic Fibrosis-Related Bronchiectasis
(2018) Gokturk, Bahar; Pekcan, Sevgi; Kose Karatas, Seda; Kurban, Sevil; Guner, Sukru Nail
Objective: To evaluate the role of the oxidant and antioxidant balance in the pathogenesis and prognosis of non-cystic fibrosis bronchiectasis (non-CF BE) in children. Materials and Methods: Twenty-nine children with non-CF BE were enrolled between June 2009 and October 2010. Thirty healthy children were enrolled as controls. Paraoxonase 1 (PON1), total oxidant status (TOS), and total antioxidant status (TAS) serum levels were measured in controls and in patients when stable and at acute exacerbation. Results: PON1 and TAS levels were lower in patients at acute exacerbation than in controls (P=0.05 and P=0.01, respectively). TOS levels indicative of oxidative stress were higher, and TAS/TOS levels were lower, in immune-deficient patients than control group (P=0.008 and P=0.01, respectively). TAS levels and PON1/TOS ratio were significantly lower in patients with moderate-severe bronchiectasis than in patients with mild bronchiectasis (P=0.043 and P=0.03, respectively). Conclusion: Oxidative stress was increased and antioxidant capacity decreased in patients with non-CF BE during the exacerbation period. Antioxidant treatment in patients with non-CF BE, especially in patients with immunodeficiency and/or with moderate-severe bronchiectasis, could be helpful to reduce the frequency and severity of the attacks by reducing oxidative stress-induced damage, ultimately contributing to a better prognosis.
Postinfectious bronchiolitis obliterans masked by misdiagnosis as asthma
(2020) Onay, Zeynep R.; Gursoy, Tugba Ramasli; Aslan, Ayse T.; Eyuboglu, Tugba Sismanlar; Kibar, Busra S.; Pekcan, Sevgi; Hangul, Melih; Kose, Mehmet; Budakoglu, Isil I.; Gokturk, Bahar; 32049442
Objectives Asthma and postinfectious bronchiolitis obliterans (PIBO) have similar clinical findings, and PIBO may be misdiagnosed with asthma. This study aimed to determine the clinical features of PIBO in children and the causes of delay in its diagnosis. Methods We retrospectively evaluated all patients diagnosed with PIBO in four pediatric pulmonology centers between 2007 and 2018. In total, 64 PIBO patients were retrospectively reviewed. We compared the clinical and laboratory differences between PIBO patients who had initially been misdiagnosed with asthma and correctly diagnosed with PIBO. Results Of the 64 patients, 22 (34.4%) had initially been misdiagnosed with asthma. Adenovirus was the most common infectious agent in children. The age upon diagnosis was older, and the symptom duration was significantly longer in patients misdiagnosed with asthma (P < .05). There were no statistical differences in terms of sex, history of prematurity, duration of hospitalization, treatment, history of oxygen or mechanical ventilation support, pulmonary function test (PFT) results and asthma-predisposing findings between the two groups (P > .05). Conclusions Patients with PIBO who had initially been misdiagnosed with asthma were correctly diagnosed at older ages and had longer symptom duration. Asthma may mask PIBO diagnosis by the similarity of symptoms and the clinical response to inhaled beta 2-agonist or steroid treatment. PFTs may not help clinicians because of the age of children. The delay in the diagnosis of PIBO is probably attributable to the fact that some clinicians fail to include PIBO in the differential diagnosis when there is no clinical response to asthma medication.
Reactivation of Resolved Hepatitis B Virus Infection Before The Relapse of Lymphoma : Immunosuppressive Effect of the Lymphoproliferative Disorders ?
(2016) Gokturk, Huseyin Savas; Unler, Gulhan Kanat; Gokturk, Bahar; https://orcid.org/0000-0003-0182-002X; 26852769
Hepatitis B virus (HBV) infection is a heterogeneous disease with distinct phases determined mainly by the interaction between virus replication and host immune response. HBV reactivation can occur spontaneously, developing resistance to antiviral treatment while the patient is undergoing treatment, after cessation of antiviral drugs, or be triggered by immunosuppressive drugs and chemotherapy. HBV reactivation can be severe and sometimes fatal because of liver failure. Here we report a patient with resolved HBV infection who presented with reactivation before being diagnosed with a relapse of non-Hodgkin lymphoma.
Risk Factors and Clinical Determinants in Bronchiolitis of Infancy
(2020) Atay, Ozge; Pekcan, Sevgi; Gokturk, Bahar; Ozdemir, Mehmet; 32584231
OBJECTIVES: The aims of this study was to demonstrate the viral pathogens, to evaluate the clinical prognosis, risk factors for recurrence, severity of acute viral bronchiolitis episodes among pediatric patients. MATERIALS AND METHODS: Our study included 101 children aged between 2 months and 2 years diagnosed with clinical bronchiolitis between September 2011 and April 2012. The demographics and clinical, laboratory, and radiological results of the patients were recorded. Nasopharyngeal swab samples were collected and analyzed through polymerase chain reaction (PCR) method. The patients were followed up for at least one year for new episodes, existence of wheezing, frequency of pulmonary infections, and progression of asthma. RESULTS: In half of the patients, determinants were indicated through the PCR method, with the most frequent being respiratory syncytial virus (44%). The frequency of bronchiolitis was higher in prematures (p<0.005). There was a relationship between crowded family structure and the existence of wheezing (p=0.003), increased recurrence (p=0.014), and need for inhaler treatment (p=0.014). The frequency was higher in patients living in urban cities (p<0.001), in houses with heating stoves (p=0.001), and in houses with smokers (p=0.001). Patients living in houses with heating stoves had more severe episodes (p=0.018). Recurrent wheezing and the need for regular inhaler usage were positively correlated with high API scores (p=0.008 and p=0.002, respectively). CONCLUSION: Prematurity, exposure to smoking, living in a crowded house with heating stoves, and an urban life are the risk factors for frequent bronchiolitis. The API can be used to predict the recurrence of bronchiolitis.
Visual Hallucinations Induced by Clarithromycin in a Child: A Case Report and Literature Review
(2019) Gokturk, Bahar; Erden, Semih; 31232747
Objective Our aim was to present a child with visual hallucinations possibly associated with oral clarithromycin administration. Case report A 4-year-old child was admitted to our hospital with an onset of visual hallucinations after taking the second dose of clarithromycin by mouth. The symptoms gradually disappeared in a week once the clarithromycin therapy had been discontinued. She was observed for a month without any symptoms or further treatment. She was suspected of having Hoigne syndrome (also called as antibiomania) induced by clarithromycin syndrome. Conclusion This report highlights neuropsychological adverse effects due to therapeutic doses of clarithromycin therapy as a possible adverse effect in children.
Would Mean Platelet Volume/Platelet Count Ratio Be Used as A Novel Formula to Predict 22q11.2 Deletion Syndrome?
(2016) Gokturk, Bahar; Guner, Sukru Nail; Kara, Reyhan; Kirac, Mine; Keles, Sevgi; Artac, Hasibe; Zamani, Ayse Gul; Yildirim, Mahmut Selman; Reisli, Ismail; 27007839
Background: The diagnosis of 22q11.2 deletion syndrome depends on a time-consuming and expensive method, fluorescence in situ hybridisation (FISH). Objectives: We aimed to determine new parameters which can aid for in the diagnosis of 22q11.2 deletion syndrome. Methods: Twenty two patients with 22q11.2 or 10p13 deletion were evaluated retrospectively. Results: Facial-dysmorphism and mental-motor retardation were detected in 100% of patients. Mean platelet (PLT) counts were lower (224,980 versus 354,000, p = 0.001), mean PLT volume (MPV) (9.95 versus 7.07, p = 0.002), and MPV/PLTx10(5) ratios (5.36 versus 2.08, p < 0.001) were higher in patients with 22q11.2 deletion compared with the control group. Area under the receiver-operator characteristic (ROC) curve was 0.864, sensitivity was 84.6%, specificity was 90.9%, positive predictive value (PPV) was 91.7%, and negative predictive value (NPV) was 83.3% when MPV was 8.6. Area under ROC curve was 0.864, sensitivity was 76.9%, specificity was 90.1%, PPV was 90.1%, and NPV was 76.3% when PLT was 265,500. Area under ROC curve was 0.906, sensitivity was 84.6%, specificity was 100%, PPV was 100%, and NPV was 84.6% when MPV/PLTx10(5) was 3.3. Expression of PLT surface markers which were not in the GPIb-V-IX receptor complex (CD61, CD41a) increased as the surface area increased, but markers which were in a complex (CD42a, CD42b) did not change. Conclusions: High MPV/PLT value can be a good predictor for the diagnosis of 22q11.2 deletion syndrome. We suggest that in patients with facial dysmorphism and retardation in neurodevelopmental milestones and if MPV >= 8.6fl, MPV/PLTx10(5) ratio >= 3.3 and PLT count <= 265,500/mm(3), the patients should be tested by FISH analysis to confirm the 22q11.2 deletion. If there are no macrothrombocytes, the 10p13 deletion should be tested in suspected cases.