Publications by authors named "Kismet Ciki"

9 Publications

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Correction to: DNAJC12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.

Metab Brain Dis 2021 Jun 9. Epub 2021 Jun 9.

Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.

A Correction to this paper has been published: https://doi.org/10.1007/s11011-021-00759-8.
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http://dx.doi.org/10.1007/s11011-021-00759-8DOI Listing
June 2021

DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.

Metab Brain Dis 2021 May 20. Epub 2021 May 20.

Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.

In addition to tetrahydrobiopterin deficiencies and phenylalanine hydroxylase deficiency (phenylketonuria) due to PAH variants, the deficiency of the co-chaperone protein DNAJC12 was identified in 2017 as a novel cause of inherited hyperphenylalaninemia, revealing the genetic etiology in previously unresolved cases. In this study, we aimed to investigate DNAJC12 deficiency in non-tetrahydrobiopterin-deficient persistent hyperphenylalaninemia cases without biallelic PAH variants in a single pediatric metabolic center. It was determined retrospectively that 471 patients with non-tetrahydrobiopterin deficiency-hyperphenylalaninemia had undergone PAH gene sequencing and 451 patients had biallelic variants in PAH. DNAJC12 sequencing was performed in the remaining 20 patients, identifying a previously reported homozygous splice-site variant (c.158-2A > T) in one patient with axial hypotonia and developmental delay, and a novel, homozygous c.404del (p.Arg135Lysfs*21) frameshift variant in an asymptomatic patient. In segregation analysis, the asymptomatic patient's both parents were also found to be homozygous for this variant and hyperphenylalaninemic. The parents may have had academic difficulties but intellectual disability could not be confirmed due to lack of cooperation. The symptomatic patient significantly benefited from treatment with sapropterin dihydrochloride and neurotransmitter precursors. DNAJC12 deficiency might be responsible for approximately 10% or more of cases with unexplained hyperphenylalaninemia. The phenotypic spectrum is broad, ranging from early infantile hypotonia to incidental diagnosis in adulthood. Similar to tetrahydrobiopterin deficiencies, early diagnosis and treatment with sapropterin dihydrochloride and neurotransmitter precursors can be beneficial, supporting the analysis of DNACJ12 gene in patients with unexplained hyperphenylalaninemia.
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http://dx.doi.org/10.1007/s11011-021-00753-0DOI Listing
May 2021

Evaluation of sleep-disordered breathing and its relationship with respiratory parameters in children with mucopolysaccharidosis Type IVA and VI.

Am J Med Genet A 2021 May 7. Epub 2021 May 7.

Department of Pediatric Pulmonology, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey.

The aims of the study were to evaluate the prevalence of sleep-disordered breathing (SDB) by using polysomnography (PSG) in children with MPS IVA and MPS VI who underwent enzyme replacement therapy (ERT) and to analyze the effect on SDB of having upper airway surgery, pulmonary functions, and exercise capacity. A retrospective cross-sectional study was conducted on patients with MPS IVA (n:17) and MPS VI (n:11) aged under 19 years who underwent polysomnography. Descriptive and nonparametric analyses were performed for demographic, PSG, pulmonary function and exercise capacity variables. The frequency of sleep apnea in the study sample was 85.7% (24/28). Four patients (14.3%) had no sleep apnea, 15 (53.6%) had mild, and nine (32.1%) had moderate-to-severe sleep apnea. Two patients (7.1%) had central sleep apnea and 22 had obstructive sleep apnea (OSA) (78.6%). Forced expiratory volume in 1 s (FEV1) and forced vital capacity (FVC) were negatively correlated to apnea-hypopnea index (AHI) (r = -0.594, p = .009; r = -0.636, p = .005, respectively). Despite ERT and previous upper airway surgery, the prevalence of OSA was high in patients with MPS IVA-MPS IV, emphasizing the importance of PSG screening for sleep disorders. Pulmonary function tests may be useful for predicting sleep apnea in patients with MPS IVA and MPS VI.
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http://dx.doi.org/10.1002/ajmg.a.62229DOI Listing
May 2021

Invisible burden of COVID-19: enzyme replacement therapy disruptions.

J Pediatr Endocrinol Metab 2021 May 5;34(5):539-545. Epub 2021 Apr 5.

Department of Pediatrics, Hacettepe University Faculty of Medicine, Pediatric Metabolism and Nutrition Unit, Ankara, Turkey.

Objectives: Lysosomal storage diseases (LSD) constitute an important group of metabolic diseases, consisting of approximately 60 disorders. In some types of lysosomal diseases, enzyme replacement therapy (ERT) is administered intravenously in weekly or biweekly doses. Unfortunately, scheduled ERT during COVID-19 was disrupted. We considered the possibility of adverse outcomes caused by the disruption in the treatment of patients with lysosomal storage disorders.

Methods: During the COVID-19 pandemic, we conducted a questionnaire that was delivered via Internet to assess how this vulnerable patient group was affected by the pandemic in terms of their access to treatment and their disease-related symptoms.

Results: The questionnaire was filled out by 75 patients. There were 35 patients whose treatment dose was missed because of COVID-19. The most common reason for skipping treatment was not wanting to go to the hospital for fear of contracting COVID-19. These 35 patients missed a median of four doses of ERT (range: 1-16 dosages). Twenty-one patients (60%) claimed that they were affected physically by not taking ERT (20 mucopolysaccaridoses, 1 Fabry disease), whereas 14 (40%) did not.

Conclusions: Interruption of ERT during the COVID-19 pandemic may have significant consequences. It may be beneficial to switch to home treatment or reserve dedicated facilities. With proper planning and management, the treatment disruptions of this particular group can be avoided.
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http://dx.doi.org/10.1515/jpem-2021-0067DOI Listing
May 2021

A rare cause of acute abdominal pain in a patient with Primary ciliary dyskinesia with situs inversus totalis.

Turk J Pediatr 2020 ;62(1):156-159

Departments of Pediatric Pulmonology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Primary ciliary dyskinesia (PCD) is a rare, genetic disease characterized by ciliary dysfunction. Patients may present with respiratory distress during neonatal period; chronic sinopulmonary disease, bronchiectasis, recurrent otitis media, sinusitis and infertility in later periods. About 50% of PCD patients have situs inversus totalis and 6-12% have situs ambiguous known as heterotaxy syndromes. Herein, we present a case of PCD and accompanying situs inversus who had acute abdominal pain and was diagnosed with torsion of one of the multiple spleens. Evaluation of acute abdominal pain in these patients has great importance since the internal organs are not at their typical locations.
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http://dx.doi.org/10.24953/turkjped.2020.01.024DOI Listing
January 2020

Caring for a Child with Phenylketonuria: Parental Experiences from a Eurasian Country.

J Dev Behav Pediatr 2020 04;41(3):195-202

Departments of Pediatrics, Pediatric Metabolism, Biostatistics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Objectives: Phenylketonuria (PKU) and mild hyperphenylalaninemia (HPA) are characterized by increased blood phenylalanine concentrations varying from mild to severe. Management of PKU was reported to be time consuming and burdensome for caregivers. This study intended to explore the experiences of families caring for a child with PKU/HPA in a country with a high PKU rate. The aim of this study was to compare parental well-being between parents of children with and without dietary restrictions and to explore the factors associated with parental psychological well-being.

Methods: Participants were interviewed about their experiences, concerns, and challenges related to the disease by using a semistructured questionnaire. After the interview, parents filled out the Beck Depression Inventory and State-Trait Anxiety Inventory-Trait.

Results: This study highlighted the adverse psychological, financial, and social effects of the diagnosis and management of the disease regarding the lives of the families of children with PKU/HPA. Although parental anxiety scores of children with and without dietary restrictions were similar, depressive symptom scores were higher in parents of children with dietary restrictions. However, in multiple regression analysis, lower household income and absence of perceived social support were found to be independent factors associated with higher depressive symptom scores. Having a daughter diagnosed with PKU/HPA and lower household income were found to be factors associated with higher anxiety scores.

Conclusion: This study revealed that income level, perceived social support, and gender of the child were factors associated with psychological well-being of parents caring for children with PKU/HPA. Health care professionals should identify the challenges faced by families and should be aware of risk factors associated with lower parental well-being to achieve better family adjustment and better health outcomes.
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http://dx.doi.org/10.1097/DBP.0000000000000748DOI Listing
April 2020

Pulmonary complications following hematopoietic stem cell transplantation in children.

Turk J Pediatr 2019 ;61(1):59-60

Departments of Pediatric Pulmonology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Çıkı K, Doğru D, Kuşkonmaz B, Emiralioğlu N, Yalçın E, Özçelik U, Uçkan-Çetinkaya D, Kiper N. Pulmonary complications following hematopoietic stem cell transplantation in children. Turk J Pediatr 2019; 61: 59-70. Pediatric data about early or long-term pulmonary complications of hematopoietic stem cell transplantation (HSCT) are limited. Here we aimed to evaluate children who were treated with HSCT in the last 10 years and developed pulmonary complications following HSCT and to determine their risk factors associated with pulmonary complications. In this retrospective study, we evaluated 195 patients for the development of pulmonary complications after HSCT within a 10 years of period. Pulmonary complications developed in 71 (36.4%) patients. Of the 71 patients who had pulmonary complications, 60 had one pulmonary complication, 11 had two pulmonary complications. Pulmonary complications were diagnosed as early in 42 (51.2%) and late in 40 (48.8%) episodes. Pulmonary complications were infectious in 28 (34.1%), noninfectious in 20 (24.4%) and both infectious and nonfectious in 34 (41.5%) episodes. Pulmonary complications developed significantly more frequently in patients with malignancy, congenital immune deficiency and with at least one pulmonary disease before HSCT. The number of patients who had myeloablative conditioning regimen was significantly higher in the group of patients without pulmonary complications than the group with pulmonary complications. However, in multivariate analysis, none of these variables were shown to be effective in predicting pulmonary complications after HSCT (p > 0.05). During follow up, 54 (65.8%) episodes recovered, 20 (24.3%) episodes resulted with death due to pulmonary complications, 6 (7.3%) episodes had chronic pulmonary disease (bronchiolitis obliterans (BO) and bronchiolitis obliterans organizing pneumonia (BOOP)); 2 patients (each patient with one episode) were lost to follow up. In conclusion; identifying children who are at risk for severe pulmonary complications and close longitudinal follow-up after HSCT by pediatric pulmonologists is mandatory to increase survival and life quality of these patients.
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http://dx.doi.org/10.24953/turkjped.2019.01.010DOI Listing
January 2020

A fatal Clostridium perfringens infection with hemolysis after chemotherapy in an adolescent.

Arch Argent Pediatr 2017 04;115(2):e92-e95

Department of Pediatrics, Pediatric Intensive Care Unit, Faculty of Medicine, Hacettepe University.

Gas gangrene, clostridial myonecrosis, is one of the most serious infectious diseases, characterized by rapidly progressive destruction of deep soft tissues and production of gas within the tissues. We presented a case of fatal spontaneous gas gangrene due to Clostridium perfringens in a patient with acute lymphoblastic leukemia during remission induction chemotherapy phase.
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http://dx.doi.org/10.5546/aap.2017.eng.e92DOI Listing
April 2017

An Infant With Congenital Leukemia Cutis and AML-M5 With MLL Gene Rearrangement.

J Pediatr Hematol Oncol 2015 Oct;37(7):566-7

*Division of Pediatric Hematology †Department of Pediatrics, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1097/MPH.0000000000000405DOI Listing
October 2015