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Turkish Journal of Pediatrics

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https://www.readbyqxmd.com/read/30511554/arrhythmia-in-thiamine-responsive-megaloblastic-anemia-syndrome
#1
Mustafa Argun, Ali Baykan, Nihal Hatipoğlu, Leyla Akın, Yavuz Şahin, Nazmi Narin, Selim Kurtoğlu
Argun M, Baykan A, Hatipoğlu N, Akın L, Şahin Y, Narin N, Kurtoğlu S. Arrhythmia in thiamine responsive megaloblastic anemia syndrome. Turk J Pediatr 2018; 60: 348-351. Thiamine responsive megaloblastic anemia syndrome (TRMAS) is a rare, autosomal recessive disorder characterized by megaloblastic anemia, diabetes mellitus, and progressive sensorineural deafness. Mutations in the SLC19A2 gene that codes for thiamine transporter 1 protein cause TRMAS, and more than 30 homozygous mutations have been identified to date...
2018: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/30511553/arthropathy-like-findings-and-a-carpal-tunnel-syndrome-as-the-presenting-features-of-scheie-syndrome-three-cases-from-the-same-family
#2
Songül Gökay, Fatih Kardaş, Mustafa Kendirci, Betül Sözeri
Gökay S, Kardaş F, Kendirci M, Sözeri B. Arthropathy-like findings and a carpal tunnel syndrome as the presenting features of Scheie syndrome: Three cases from the same family. Turk J Pediatr 2018; 60: 344-347. Mucopolysaccharidosis (MPS) type I is a rare autosomal recessive disease caused by a deficiency of the lysosomal enzyme α-L-iduronidase. MPS I is divided into three subtypes based on the severity of symptoms: Hurler, Hurler-Scheie, and Scheie syndrome (severe, intermediate, and mild forms, respectively)...
2018: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/30511552/granulomatous-amebic-encephalitis-caused-by-acanthamoeba-in-an-immuncompetent-child
#3
Murat Sütçü, Hacer Aktürk, Sezen Gülümser-Şişko, Manolya Acar, Oğuz Bülent Erol, Ayper Somer, Bilge Bilgiç, Nuran Salman
Sütçü M, Aktürk H, Gülümser-Şişko S, Acar M, Erol OB, Somer A, Bilgiç B, Salman N. Granulomatous amebic encephalitis caused by Acanthamoeba in an immuncompetent child. Turk J Pediatr 2018; 60: 340-343. Acanthamoeba may lead to granulomatous amebic encephalitis (GAE) with high mortality rates generally in patients with immunosupression and/or chronic disease. Here, we present a rare GAE case, who was a previously healthy child. A Georgian 9 year old boy presented with focal seizure on his left arm and confusion...
2018: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/30511551/chelation-therapy-for-secondary-neonatal-iron-over-load-lessons-learned-from-rhesus-hemolytic-disease
#4
Fareed Khdair-Ahmad, Tariq Aladily, Olfat Khdair-Ahmad, Eman F Badran
Khdair-Ahmad F, Aladily T, Khdair-Ahmad O, Badran EF. Chelation therapy for secondary neonatal iron overload: Lessons learned from rhesus hemolytic disease. Turk J Pediatr 2018; 60: 335-339. Secondary neonatal iron overload occurs with intrauterine and post-natal blood transfusions. Treatment with intravenous Deferoxamine was reported only in four cases in the literature. Herein we report a case of a patient born at 36 weeks of gestation, who had rhesus hemolytic disease. He developed secondary iron overload, causing liver injury, after a total of six blood transfusions: four intrauterine and 2 post-natal transfusion therapies...
2018: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/30511550/an-infant-case-of-renovascular-hypertension-in-moyamoya-disease-treated-by-angioplasty
#5
Jianming Guo, Lianrui Guo, Gao Zeng, Zhu Tong, Xixiang Gao, Yongquan Gu
Guo J, Guo L, Zeng G, Tong Z, Gao X, Gu Y. An infant case of renovascular hypertension in moyamoya disease treated by angioplasty. Turk J Pediatr 2018; 60: 331-334. Here we report the treatment experience of an 18-month-old female infant case of renovascular hypertension due to moyamoya disease by angioplasty. Although renal blood flow was recovered immediately after operation, 12 months follow-up found severe restenosis which required us to perform a right renal autotransplantation.
2018: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/30511549/polyarteritis-nodosa-in-case-of-familial-mediterranean-fever
#6
İbrahim Gökçe, Ülger Altuntaş, Deniz Filinte, Harika Alpay
Gökçe İ, Altuntaş Ü, Filinte D, Alpay H. Polyarteritis nodosa in case of familial Mediterranean fever. Turk J Pediatr 2018; 60: 326-330. Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent self-limited attacks of fever accompanied by peritonitis, pleuritis, and arthritis. Protracted febrile myalgia syndrome (PFMS) is a rare form of vasculitic disease which is an uncommon dramatic manifestation of FMF, characterized by severe crippling myalgia and high fever. Polyarteritis nodosa (PAN) is a systemic necrotizing vasculitis affecting medium or small arteries...
2018: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/30511548/a-case-of-myeloid-sarcoma-presenting-with-an-orbital-mass-hearing-loss-and-multiple-cranial-neuropathies
#7
Seon-Hee Lim, Hye-Na Nam, Kyung-In Lim, In-Sang Jeon
Lim SH, Nam HN, Lim KI, Jeon IS. A case of myeloid sarcoma presenting with an orbital mass, hearing loss, and multiple cranial neuropathies. Turk J Pediatr 2018; 60: 322-325. Primary myeloid sarcoma occurring in multiple sites; orbit, ear, brain, and spinal cord is a rare clinical entity. A 15-year-old male adolescent presented with bilateral orbital mass, hearing difficulty, and clinical signs of multiple cranial nerves palsy. Approximately 6 weeks later, acute myeloid leukemia was confirmed. This case alerts us that in patients with diverse sarcomatous lesions, acute myeloid leukemia presenting as myeloid sarcoma should be considered...
2018: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/30511547/a-case-of-atypically-located-leiomyoma-mimicking-axillary-lymphadenomegaly
#8
Mehmet Nuri Cevizci, Ali Fettah, Mehmet Eşref Kabalar
Cevizci MN, Fettah A, Kabalar ME. A case of atypically located leiomyoma mimicking axillary lymphadenomegaly. Turk J Pediatr 2018; 60: 319-321. Leiomyomas are benign smooth muscle tumors rarely seen in children and may occur anywhere in the body containing smooth muscle. Here, we report a case of a 4-year-old girl presenting with swelling in the left axillary region and with pain during arm movements. The solid mass in the axillary region was totally excised. The patient was discharged without complications on the same day...
2018: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/30511546/a-novel-mutation-of-the-myh7-gene-in-a-patient-with-hypertrophic-cardiomyopathy
#9
Nicholas Goel, Charles B Huddleston, Andrew C Fiore
Goel N, Huddleston CB, Fiore AC. A novel mutation of the MYH7 gene in a patient with hypertrophic cardiomyopathy. Turk J Pediatr 2018; 60: 315-318. Hypertrophic cardiomyopathy (HCM) is a genetic disorder characterized by asymmetric cardiac hypertrophy due to inherited mutations in genes that encode sarcomeric proteins. MYH7, which encodes β-myosin heavy chain, is among the most commonly mutated genes in patients affected by HCM. We aimed to identify the specific mutation responsible for HCM in a six-month old Caucasian patient...
2018: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/30511545/a-case-of-steroid-resistance-hashimoto-s-encephalopathy-presenting-with-sensorimotor-polyneuropathy
#10
Serhat Emeksiz, Nurettin Onur Kutlu, Nuri Alaçakır, Hüseyin Çaksen
Emeksiz S, Kutlu NO, Alaçakır N, Çaksen H. A case of steroid-resistance Hashimoto's encephalopathy presenting with sensorimotor polyneuropathy. Turk J Pediatr 2018; 60: 310-314. Hashimoto`s encephalopathy (HE) is a rare, auto-immune disease characterized by symptoms of acute or subacute encephalopathy associated with increased anti-thyroid antibody levels. The course of most HE cases is relapsing and remitting, which is similar to that of vasculitis and stroke. Steroids are the first line treatment in HE...
2018: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/30511544/neonatal-atrial-flutter-three-cases-and-review-of-the-literature
#11
Seda Yılmaz-Semerci, Helen Bornaun, Dilek Kurnaz, Burcu Cebeci, Aslan Babayigit, Gökhan Büyükkale, Merih Çetinkaya
Yılmaz-Semerci S, Bornaun H, Kurnaz D, Cebeci B, Babayiğit A, Büyükkale G, Çetinkaya M. Neonatal atrial flutter: Three cases and review of the literature. Turk J Pediatr 2018; 60: 306-309. Atrial flutter (AFl) is known to be a seldom type of fetal and neonatal arrhythmia. Although it could end in severe morbidities such as hydrops fetalis or even death, with early prenatal diagnosis and prompt therapeutic approaches the majority of AFl cases show good prognosis. Neonatal AFl might be resistant to first step therapies...
2018: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/30511543/birth-outcomes-after-inadvertent-use-of-category-x-drugs-contraindicated-in-pregnancy-where-is-the-real-risk
#12
Zeynep Öztürk, Ercüment Ölmez, Tuğba Gürpınar, Kamil Vural
Öztürk Z, Ölmez E, Gürpınar T, Vural K. Birth outcomes after inadvertent use of category X drugs contraindicated in pregnancy: Where is the real risk? Turk J Pediatr 2018; 60: 298-305. Drugs contraindicated in pregnancy are medicines that should be avoided by pregnant women, since they carry a concern for teratogenicity or there is no indication for their use during pregnancy. It does not mean that exposures to these drugs always cause harm. The aim of the present study was to investigate the risk of adverse outcomes following maternal exposure to the drugs contraindicated in pregnancy...
2018: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/30511542/attitudes-of-physicians-concerning-vaccines-not-included-in-the-national-immunization-schedule
#13
Tülin Çataklı, Aysu Duyan-Çamurdan, F Nur Aksakal-Baran, Ahmet Enes Güven, Ufuk Beyazova
Çataklı T, Duyan-Çamurdan A, Aksakal-Baran FN, Güven AE, Beyazova U. Attitudes of physicians concerning vaccines not included in the national immunization schedule. Turk J Pediatr 2018; 60: 290-297. The aim of this study was to identify attitudes of family physicians and pediatricians working in sub-provinces of central Ankara concerning rotavirus (RV), human papilloma virus (HPV), meningococcal conjugate vaccine (MenACWY-MCV4) and adolescent and adult pertussis (Tdap) vaccines which are not included in the National Immunization Schedule (NIS)...
2018: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/30511541/gelsolin-levels-in-patients-with-bronchiolitis
#14
Feyza Hüsrevoğlu-Esen, Yasemin Altuner-Torun, Çiğdem Karakükçü, Seçil Köse, Ahmet Şehriyaroğlu, Dilek Kafadar, Aydın Esen, Mehmet Köse
Hüsrevoğlu-Esen F. Altuner-Torun Y, Karakükçü Ç, Köse S, Şehriyaroğlu A, Kafadar D, Esen A, Köse M. Gelsolin levels in patients with bronchiolitis. Turk J Pediatr 2018; 60: 286-289. Bronchiolitis is the leading cause of hospitalization in infants. Biomarkers can show severity of the disease and help in clinical management. In this study, the aim was to determine the clinical predictiveness of plasma gelsolin levels (pGSN) in acute bronchiolitis. From December 2013 to May 2014, 52 patients with bronchiolitis (aged < 24 months) were included in this study...
2018: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/30511540/high-alert-medications-administration-errors-in-neonatal-intensive-care-unit-a-pediatric-tertiary-hospital-experience
#15
John Rene Labib, Meray Rene Labib-Youssef, Shaimaa Fatah
Labib JR, Youssef MRL, Abd El Fatah SAM. High alert medications administration errors in neonatal intensive care unit: A pediatric tertiary hospital experience. Turk J Pediatr 2018; 60: 277-285. Labib JR, Youssef MRL, Abd El Fatah SAM. High alert medications administration errors in neonatal intensive care unit: A pediatric tertiary hospital experience. Turk J Pediatr 2018; 60: 277-285. This is a hospital-based descriptive cross sectional study, implemented in the NICU, at Cairo University Pediatric hospital...
2018: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/30511539/advantage-of-the-subcutaneous-immunoglobulin-replacement-therapy-in-primary-immunodeficient-patients-with-or-without-secondary-protein-loss
#16
Pınar Gür-Çetinkaya, Deniz Nazire Çağdaş-Ayvaz, Ayça Burcu Öksüz, Ayşe Ertoy, Umut Hayran, Feride Özkan, Meliha Erol, İlhan Tezcan
Gür-Çetinkaya P, Çağdaş-Ayvaz DN, Öksüz AB, Ertoy A, Hayran U, Özkan F, Erol M, Tezcan İ. Advantage of the subcutaneous immunoglobulin replacement therapy in primary immunodeficient patients with or without secondary protein loss. Turk J Pediatr 2018; 60: 270-276. In recent years subcutaneous immunoglobulin is widely used for primary immunodeficient patients. Subcutaneous administration provides a more stable and higher serum immunoglobulin levels due to continuous and steady transition from lymphatics to the systemic circulation...
2018: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/30511538/hereditary-spherocytosis-retrospective-evaluation-of-65-children
#17
Ali Güngör, Neşe Yaralı, Ali Fettah, İkbal Ok-Bozkaya, Namık Özbek, Abdurrahman Kara
Güngör A, Yaralı N, Fettah A, Ok-Bozkaya İ, Özbek N, Kara A. Hereditary spherocytosis: Retrospective evaluation of 65 children. Turk J Pediatr 2018; 60: 264-269. Hereditary spherocytosis (HS) is a common cause of congenital hemolytic anemia in Caucasians and it could be diagnosed at any age. The aim of this study is to examine the demographic characteristics, clinical features and laboratory findings of children with HS and their complications observed during follow up. Sixty-five patients, with hereditary spherocytosis between January 2008 and September 2013, were enrolled into this retrospective study...
2018: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/30511537/the-influence-of-media-on-the-sleep-quality-in-adolescents
#18
Duygu Akçay, Bülent Devrim Akçay
Akçay D, Akçay BD. The influence of media on the sleep quality in adolescents. Turk J Pediatr 2018; 60: 255-263. This study was conducted to evaluate the influence of media devices on sleep quality in adolescents. Applying a descriptive design, the study was carried out with 9th, 10th and 11th grade students (N=392, 52.0% female, average age 16.04±0.86) who were attending Konya High School between the dates of January 18 and 22, 2016. Changes were seen to occur in the wake-up times of those who had either a television or a computer in their bedrooms (p < 0...
2018: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/30511536/glycemic-control-and-health-behaviors-in-adolescents-with-type-1-diabetes
#19
Aylin Yetim, Müjgan Alikaşifoğlu, Firdevs Baş, Kayı Eliaçık, Gülnaz Çığ, Ethem Erginöz, Oya Ercan, Rüveyde Bundak
Yetim A, Alikaşifoğlu M, Baş F, Eliaçık K, Çığ G, Erginöz E, Ercan O, Bundak R. Glycemic control and health behaviors in adolescents with type 1 diabetes. Turk J Pediatr 2018; 60: 244-254. The purpose of this study was to determine the health/health risk behaviors of a group of Turkish adolescents with type 1 diabetes (T1D) to determine the prevalence and explore the exact effect of these behaviors on glycemic control (GC). A total of 210 adolescents (age 12-20 years; diabetes duration > 6 months; no additional comorbidities), completed a self-administered questionnaire (including some questions from Health Behavior in School-aged Children study questionnaire)...
2018: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/30511535/efficacy-of-rufinamide-in-childhood-refractory-epilepsy
#20
Edibe Pembegül Yıldız, Zeynep Hızlı, Gonca Bektaş, Melis Ulak-Özkan, Burak Tatlı, Nur Aydınlı, Mine Çalışkan, Meral Özmen
Yıldız EP, Hızlı Z, Bektaş G, Ulak-Özkan M, Tatlı B, Aydınlı N, Çalışkan M, Özmen M. Efficacy of rufinamide in childhood refractory epilepsy. Turk J Pediatr 2018; 60: 238-243. Rufinamide has been used as a new antiepileptic drug in the treatment of drug-resistant epilepsy, in recent years. The objective of this study was to evaluate the reliability of rufinamide and its impact on seizure frequency in patients diagnosed with drug-resistant epilepsy, where seizures could not be controlled with `classical` antiepileptic drugs...
2018: Turkish Journal of Pediatrics
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