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Turkish Journal of Pediatrics

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https://www.readbyqxmd.com/read/29745129/primary-trimethylaminuria-fish-odor-syndrome-and-hypothyroidism-in-an-adolescent
#1
Mustafa Kılıç
Primary trimethylaminuria (fish-odor syndrome) is a rare autosomal recessive inherited metabolic disorder due to decreased metabolism of trimethylamine by enzyme flavin-containing monooxygenase 3. We report an adolescent boy who was socially distressed with malodor and diagnosed trimethylaminuria by molecular analyses. The patient was previously found to have primary hypothyroidism at another center when he was being investigated for malodor. Our aim is to remind awareness of this rare, socially devastating metabolic disorder to physicians, especially family doctors and specialists such as pediatricians, adolescent doctors, psychiatrists and dermatologists...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29745128/novel-nkx2-5-germline-mutation-in-a-moroccan-child-with-transitional-atrio-ventricular-septal-defect-tavsd
#2
Ihssane El-Bouchikhi, Khadija Belhassan, Fatima Zohra Moufid, Mohammed Iraqui Houssaini, Karim Ouldim, Samir Atmani
Atrioventricular septal defect is a complex congenital heart defects (CHD) with a prevalence of approximately 4% of all CHDs. Transitional form of atrio-ventricular septal defect (tAVSD) associates ostium primum atrial septal defect, common atrioventricular annulus with distinct atrioventricular valvar orifices in addition of restrictive ventricular septal defect. We describe in this report clinical and molecular features of a Moroccan boy that carries a novel NK2 homeobox 5 (NKX2-5) germline mutation (Pro141Ala), and exhibits a transitional atrio-ventricular septal defect...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29745127/radiological-picture-of-premature-baby-with-manifestation-of-brachytelephalangic-type-chondrodysplasia-punctata-myelomalacia
#3
Ural Koç, Pınar Karakaş
Chondrodysplasia punctata (CDP) is a heterogeneous disease with multiple syndromic types and characterization of the CDP subtype is important for prognostic purposes. The aim of this study is to provide information about brachytelephalangic CDP, discuss its radiographic findings and emphasize the importance of cervical spine findings. Physicians must be aware of the potentially serious complications of CDP especially its cervical spine findings. In order to prevent morbidity and mortality, early imaging with CT and MRI is recommended...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29745126/a-case-with-rubinstein-taybi-syndrome-a-novel-frameshift-mutation-in-the-crebbp-gene
#4
Metin Eser, Akif Ayaz, Gözde Yeşil
Rubinstein-Taybi syndrome (RSTS) is a developmental disorder characterized by a wide spectrum of multiple congenital anomalies and cognitive impairment. RSTS is primarily due to mutations in CREBBP (approximately 55% of cases) or EP300 (approximately 8% of cases) genes. A 2 month-old boy had atypical facial findings such as low anterior hairline, triangular face, hirsutism on forehead, down-slanting palpebral fissures, beaked nose, broad nasal bridge, triangular mouth and pointed chin and skeletal finding including broad great thumbs and halluces, and accessory nipple...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29745125/rapunzel-syndrome-in-a-seven-year-old-female
#5
Anand Gupta, Jaswinder Kaur, Nishant Wadhwa
Rapunzel syndrome is characterized by gastric trichobezoar with extension beyond pylorus. Seven year old female presented with chronic pain abdomen and loss of appetite. Upper gastrointestinal (UGI) endoscopy showed large trichobezoar in the stomach with its tail extending into proximal duodenum. Child underwent exploratory laparotomy and a large trichobezoar measuring 15 cm was removed. Psychiatric opinion revealed that the child was suffering from `trichotillomania`; an obsessive compulsive disorder. UGI endoscopy is the preferred modality for diagnosis, as it delineates the mass and its extent...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29745124/flow-volume-curve-in-the-diagnosis-and-follow-up-of-intrathoracic-airway-obstruction
#6
Özlem Cavkaytar, Ayşe Büyükçam, Özlem Tekşam, Deniz Doğru-Ersöz, Zuhal Akçören, Umut Akyol, Ayfer Tuncer, Cansın Saçkesen
Spirometry is an easy method to measure lung function and to show pathophysiology. It assists not only to determine the severity of bronchial obstruction in asthma but also to differentiate the characteristics of the intrathoracic diseases narrowing the central airways. Different types of benign and malignant tumors of the trachea may cause emergence of symptoms of airway obstruction. Herein a patient who had been initially diagnosed with asthma but later on shown to have intratracheal myofibroblastic tumor is presented...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29745123/child-with-ret-proto-oncogene-codon-634-mutation
#7
Dilek İnce, Bengü Demirağ, Eda Ataseven, Yeşim Oymak, Hale Tuhan, Osman Zeki Karakuş, Filiz Hazan, Ayhan Abacı, Erdener Özer, Kamer Mutafoglu, Nur Olgun
İnce D, Demirağ B, Ataseven E, Oymak Y, Tuhan H, Karakuş OZ, Hazan F, Abacı A, Özer E, Mutafoglu K, Olgun N. Child with RET proto-oncogene codon 634 mutation. Turk J Pediatr 2017; 59: 590-593. Herein we reported a 7-year-old child with RET proto-oncogene c634 mutation. Her mother had been diagnosed with medullary thyroid carcinoma (MTC), and treated six years ago. Heterozygous mutation of the RET proto-oncogene at c634 had been detected in her mother. Genetic analysis showed the presence of the same mutation in our patient...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29745122/primary-pulmonary-langerhans-cell-histiocytosis-associated-with-smoking-in-an-adolescent-boy
#8
Elvan Çağlar Çıtak, Erdem Ak, Fatih Sağcan, Yüksel Balcı, Rabia Bozdoğan-Arpacı, Necdet Kuyucu
Pulmonary Langerhans cell histiocytosis (PLCH) is a well known entity in adults but is exceedingly rare in children. It is better described in adults than in children. Smoking is a major etiological factor in adulthood. We report a case of a previously healthy 16-year-old male with a history of cigarette smoking, who presented with cough with sputum, breathlessness, easy fatigability and loss of appetite for two weeks. He was first diagnosed with bronchiectasis according to the cystic pulmonary changes demonstrated by computed tomography...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29745121/complete-paralytic-botulism-mimicking-a-deep-coma-in-a-child
#9
Ebru Azapağası, Tanıl Kendirli, Gökçen Öz-Tuncer, Pelin Albayrak, Serap Teber, Gülhis Deda
Botulism is a rare cause of neuroparalysis. Delay in diagnosis and treatment exerts adverse impact on mortality and morbidity. We report a child with complete flaccid paralysis followed by progression to coma-like consciousness. The patient required mechanical ventilation. As serological tests could not be performed, detailed history and physical examinations led to the suspicion of botulism, and repetitive nerve stimulation tests supported the diagnosis. Botulinum antitoxin was administered. The patient`s neuromuscular function improved rapidly...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29745120/hemolytic-uremic-syndrome-with-multiple-organ-involvement-secondary-to-complement-factor-h-p-arg1215x-mutation
#10
Osman Yeşilbaş, Esra Şevketoğlu, Mey Talip Petmezci, Hasan Serdar Kıhtır, Meryem Benzer, Afig Berdeli
Complement mediated hemolytic uremic syndrome which is caused by excessive activation of the alternative complement system is a thrombotic microangiopathy. The disease frequently occurs as a result of mutations in the genes that regulates complement proteins. Complement factor H gene has the most common mutations. A nine-month-old male patient was transferred to pediatric intensive care unit with the diagnosis of hemolytic uremic syndrome. Nonsense heterozygous p.Arg1215X mutation in the complement factor H gene was detected...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29745119/expanding-spectrum-of-scn1a-related-phenotype-with-novel-mutations
#11
Semra Hız-Kurul, Semra Gürsoy, Müge Ayanoğlu, Uluç Yiş, Derya Erçal
Mutations in the genes encoding voltage-gated sodium channels cause a variety of epilepsy syndromes, with most of the mutations occurring in SCN1A gene. It is one of the most well-researched epilepsy genes. The SCN1A gene, which seems to be a relevant regulator of excitability of the CNS, is implicated in various epilepsy phenotypes through various genetic mechanisms ranging from common variants to rare monogenic variants. It is known that SCN1A gene is tightly linked to severe myoclonic epilepsy of infancy (SMEI)...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29745118/b-type-natriuretic-peptide-is-a-useful-biomarker-predicting-disease-severity-in-children-with-isolated-bronchiolitis-in-the-emergency-department
#12
Murat Anıl, Zeynep Göç, Ramazan Avcı, Gamze Gökalp, Yüksel Bıcılıoğlu, Fulya Kamıt-Can, Fatih Durak, Alkan Bal, Neslihan Zengin, Ayse Berna Anıl
The aim of the study was to determine whether the B-type natriuretic peptide (BNP) plasma level predicted the severity of bronchiolitis without additional pathology in children admitted to an emergency department (ED). A total of 232 children (mean age: 7.7±1.2 months [range: 1-23 months]) presenting to ED with isolated bronchiolitis and 32 age- and gender-matched control subjects were included in the study. BNP levels differed significantly among the control (8.5±1.1 pg/ml) and mild (27.7±2.6 pg/ml), moderate (51...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29745117/defective-pneumococcal-antibody-response-in-patients-with-recurrent-respiratory-tract-infections
#13
Baran Erman, Duygu Demirtaş, Hacer Neslihan Bildik, Deniz Çağdaş-Ayvaz, Özden Sanal, İlhan Tezcan
Streptococcus pneumoniae is a common pathogen responsible for pulmonary infections and the leading cause of mortality and morbidity in patients with particularly B cell immunodeficiencies. Antibody production is the principal protective immune response against S. pneumoniae and measurement of the production of antipolysaccharide antibodies is important in the evaluation of B cell deficiencies. We quantified serotype-specific immunoglobulin G antibodies against seven common pneumococcal serotypes before and three weeks after unconjugated vaccine in 416 patients with recurrent respiratory tract infections; fifty-five (13%) of whom showed impaired antibody response...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29745116/subtype-frequencies-demographic-features-and-remission-rates-in-juvenile-idiopathic-arthritis-265-cases-from-a-turkish-center
#14
Mustafa Çakan, Nuray Aktay-Ayaz, Gonca Keskindemirci, Dilbade Yıldız Ekinci, Şerife Gül Karadağ
Juvenile idiopathic arthritis (JIA) is the most common cause of chronic arthritis in children. It is a group of heterogeneous disorders that have chronic arthritis as a common feature. It has a worldwide distribution and many studies have shown that subtype frequencies in JIA seem to be showing geographical distribution. The aim of this study was to define subtype frequencies, demographic features, and the rates of macrophage activation syndrome, uveitis and remission in Turkish JIA patients. The files of all JIA patients (378 cases) that were being followed in Pediatric Rheumatology Clinic of our institution, between May 2010 and February 2016 were reviewed...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29745115/is-diet-quality-associated-with-early-childhood-caries-in-preschool-children-a-descriptive-study
#15
Elif İnan-Eroğlu, Cansu Özşin-Özler, Rüveyda Esra Erçim, Zehra Büyüktuncer, Meryem Uzamış-Tekçiçek, Bahar Güçiz-Doğan
Limited evidence about the role of diet quality, an important component of nutritional status, in the etiology of dental caries has been reported. The aim of this study was to examine the association between diet and dental caries in children by using the dietary intake data, anthropometrical measurements and dental examination. A total of 395 children (52.7% boys and 42.8% girls) who were 36-71 months of age (mean age 58.7±8.6 months) and attended one of the eleven preschools within a district of Ankara participated in this descriptive study...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29745114/the-therapeutic-effect-of-gelatin-tannate-in-acute-diarrhea-in-children
#16
Soner Sertan Kara, Burcu Volkan, İbrahim Erten
Gelatin tannate (GT) is a nonabsorbable antidiarrheal agent investigated in few clinical studies. The aim of this study was to investigate the effects of GT on children with acute gastroenteritis. This randomized, placebo-controlled, single-blinded, prospective study involved children aged from six months to 10 years with acute diarrhea. The study group received GT and the control group placebo for five days. Stool frequency and numbers of patients with diarrhea in each group were compared at 12, 24, 48, 72, 96, and 120 hours...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29745113/frequency-and-outcomes-of-endotracheal-intubation-in-the-pediatric-emergency-department
#17
Ali Yurtseven, Caner Turan, Mehmet Arda Kılınç, Eylem Ulaş Saz
Intubation is a core airway skill in Pediatric Emergency Medicine (PEM). The data on pediatric endotracheal intubation in the emergency department, especially in developing countries, is currently very limited. This study was designed to describe the frequency, clinical features and outcomes of pediatric intubation in a large children`s hospital. We performed a retrospective analysis of PEM medical records between January 2014 and December 2015 that involved any attempted intubations of children younger than 18 years...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29745112/risk-factors-for-intensive-care-need-in-children-with-bronchiolitis-a-case-control-study
#18
Yesim Coskun, Filiz Sağlam, Müzeyyen Mamal-Torun, İpek Akman
Bronchiolitis is the most common cause of lower respiratory tract infection and hospitalization in infancy and some of the patients may require admission to Intensive Care Unit (ICU) due to severe form of the disease. The aim of this study was to determine the risk factors for ICU need. The study group was composed of 30 patients admitted to ICU with the diagnosis of bronchiolitis and 30 bronchiolitis patients that were treated in the regular ward at the same period were enrolled to the study as the control group...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29745111/effects-of-respiratory-viruses-on-febrile-neutropenia-attacks-in-children
#19
Bilge Aldemir-Kocabaş, Adem Karbuz, Esra Pekpak, Zeynep Ceren Karahan, İştar Dolapçı, Elif İnce, Zümrüt Uysal, Gülsan Yavuz, Ergin Çiftçi, Erdal İnce
Respiratory tract viruses have an important effect on morbidity and mortality in patients with febrile neutropenia (FN). The aim of this study was to determine frequency and clinical influence of viral respiratory viruses as potential etiologic agents in episodes of FN in children. A total of 100 children (62 boys, 38 girls) with 166 FN episodes were included in this prospective study. Nasopharyngeal aspirate samples were analyzed for respiratory viral agents using multiplex real-time polymerase chain reaction...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29745110/tuberculosis-screening-in-pediatric-patients-receiving-tnf-alpha-inhibitor-therapy
#20
Manolya Acar, Murat Sütçü, Hacer Aktürk, Selda Hançerli-Torun, Oğuz Bülent Erol, Nuran Salman, Ayper Somer
Tumor necrosis factor-alpha inhibitors (TNFIs) increase the risk of tuberculosis (TB). The aim of this study was to evaluate pediatric patients who are under TNFIs regarding the emergence of TB, and to determine the effectiveness of screening methods. This was a retrospective observational study of 73 patients receiving TNFIs therapy for at least 6 months duration between January 2011 and January 2016. Detailed demographic and clinical data were gathered from patients` files. Seventy-three patients (female n=41, 56...
2017: Turkish Journal of Pediatrics
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