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Turkish Journal of Pediatrics

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https://www.readbyqxmd.com/read/29624235/a-rare-situation-in-acute-rheumatic-carditis-involvement-of-all-four-valves
#1
Osman Güvenç, Derya Çimen
Güvenç O, Çimen D. A rare situation in acute rheumatic carditis: Involvement of all four valves. Turk J Pediatr 2017; 59: 497-500. Acute rheumatic fever continues to be an important health problem, especially in countries that are socioeconomically underdeveloped. Carditis, which develops in approximately half of the patients, is responsible for both early-stage mortality as well as late-stage surgical treatment due to heart valve insufficiency or stenosis. The most frequent and severe valve involvement is with the mitral valve, while the aortic valve has the second highest incidence of involvement...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29624234/the-role-of-plasmapheresis-in-organophosphate-poisoning-case-reports-of-three-pediatric-patients
#2
Ufuk Yükselmiş, Mustafa Özçetin, Yakup Çağ, Dinçer Yıldızdaş, Hayri Levent Yılmaz
Yükselmiş U, Özçetin M, Çağ Y, Yıldızdaş D, Yılmaz HL. The role of plasmapheresis in organophosphate poisoning: Case reports of three pediatric patients. Turk J Pediatr 2017; 59: 491-496. The aim of the study was to assess the impact of plasmapheresis treatment in the management of three pediatric patients with organophosphate poisoning who did not respond to standard treatment. The treatment of signs and symptoms, and supportive treatment has been evaluated in this paper. Patients were initially given atropine infusion and 0...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29624233/arc-syndrome
#3
Mehmet Mutlu, Yakup Aslan, Filiz Aktürk-Acar, Murat Çakır, Erol Erduran, Mukaddes Kalyoncu
Mutlu M, Aslan Y, Aktürk-Acar F, Çakır M, Erduran E, Kalyoncu M. ARC syndrome. Turk J Pediatr 2017; 59: 487-490. Arthrogryposis-renal dysfunction-cholestasis (ARC) is an autosomal recessive multisystem disorder characterized by arthrogryposis, renal tubular dysfunction and neonatal cholestasis with low gamma glutamyl transpeptidase activity. Most of the mutations in ARC syndrome are associated with the vacuolar protein sorting 33B (VPS33B) gene on chromosome 15q26.1. Herein, we report a female newborn with ARC syndrome caused by homozygous mutations in VPS33B [IVS1-2A > C (c...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29624232/a-rare-large-mutation-involving-two-exons-of-the-sp-b-gene-in-an-infant-with-severe-respiratory-distress
#4
Şahin Takcı, Deniz Anuk-İnce, Malek Louha, Remy Couderc, Nursen Çakar, Reşit Doğan Köseoğlu, Ömer Ateş
Takcı Ş, Anuk-İnce D, Louha M, Couderc R, Çakar N, Köseoğlu RD, Ateş Ö. A rare large mutation involving two exons of the SP-B gene in an infant with severe respiratory distress. Turk J Pediatr 2017; 59: 483-486. Hereditary surfactant protein-B (SP-B) deficiency is a rare autosomal recessive disease of newborn infants causing severe respiratory failure and death within the first year of life. The most common cause of SP-B deficiency is a frameshift mutation in exon 4 (121ins2) in the gene encoding SP-B...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29624231/identification-of-two-novel-pnpla1-mutations-in-turkish-families-with-autosomal-recessive-congenital-ichthyosis
#5
Serap Dökmeci-Emre, Zihni Ekim Taşkıran, Ayşe Yüzbaşıoğlu, Gizem Önal, Ayşe Nurten Akarsu, Ayşen Karaduman, Meral Özgüç
Dökmeci-Emre S, Taşkıran ZE, Yüzbaşıoğlu A, Önal G, Akarsu AN, Karaduman A, Özgüç M. Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis. Turk J Pediatr 2017; 59: 475-482. Autosomal recessive congenital ichthyosis (ARCI) is a group of inherited keratinization disorders that are characterized by abnormal epidermal keratinization. ARCI patients generally represent serious symptoms including collodion baby phenotype accompanied by dehydration, heat loss, electrolytic imbalance, and sepsis...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29624230/beta-ketothiolase-deficiency-an-unusual-cause-of-recurrent-ketoacidosis
#6
Gonca Kılıç-Yıldırım, Sultan Durmuş-Aydoğdu, Serdar Ceylaner, Jörn Oliver Sass
Kılıç-Yıldırım G, Durmuş-Aydoğdu S, Ceylaner S, Sass JO. Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis. Turk J Pediatr 2017; 59: 471-474. Beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase, MAT or T2 deficiency) is a rare autosomal recessive disorder of isoleucine and ketone body metabolism due to acetyl-CoA acetyltransferase-1 (ACAT1) gene mutations. The disease is characterized by recurrent episodes of ketoasidosis which starts with vomiting and followed by dehydration and tachypnea...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29624229/two-cases-of-periodic-fever-syndrome-with-coexistent-mevalonate-kinase-and-mediterranean-fever-gene-mutations
#7
Mustafa Çakan, Nuray Aktay-Ayaz, Gonca Keskindemirci, Şerife Gül Karadağ
Çakan M, Aktay-Ayaz N, Keskindemirci G, Karadağ ŞG. Two cases of periodic fever syndrome with coexistent mevalonate kinase and Mediterranean fever gene mutations. Turk J Pediatr 2017; 59: 467-470. The periodic fever syndromes are autoinflammatory diseases that present with recurrent fever, serositis and rash. Familial Mediterranean fever is the most common periodic fever syndrome and characterized by recurrent attacks of fever, arthritis, peritonitis, pleuritis that typically last 1-3 days. Hyperimmunoglobulinemia D syndrome is another example of periodic fever syndromes and patients have recurrent fever attacks for 3-7 days accompanied by abdominal pain, rash, vomiting, diarrhea, arthralgia, arthritis, aphthous ulcers, and cervical lymphadenopathy...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29624228/febrile-infection-related-epilepsy-syndrome-fires-treated-with-immunomodulation-in-an-8-year-old-boy-and-review-of-the-literature
#8
Caner Alparslan, Fulya Kamit-Can, Ayşe Berna Anıl, Nihal Olgaç-Dündar, Dilek Çavuşoğlu, Zeynep Göç
Alparslan C, Kamit-Can F, Anıl AB, Olgaç-Dündar N, Çavuşoğlu D, Göç Z. Febrile infection-related epilepsy syndrome (FIRES) treated with immunomodulation in an 8-year-old boy and review of the literature. Turk J Pediatr 2017; 59: 463-466. Febrile infection-related epilepsy syndrome (FIRES) is a catastrophic epilepsy syndrome which is characterized by acute onset of refractory status epilepticus following a febrile infection occurring in previously normal children. Despite the various treatment options that have been tried, exact treatment strategy is still undetermined...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29624227/conventional-insulin-pump-therapy-in-two-neonatal-diabetes-patients-harboring-the-homozygous-ptf1a-enhancer-mutation-need-for-a-novel-approach-for-the-management-of-neonatal-diabetes
#9
Erdal Kurnaz, Zehra Aycan, Nurdan Yıldırım, Semra Çetinkaya
Kurnaz E, Aycan Z, Yıldırım N, Çetinkaya S. Conventional insulin pump therapy in two neonatal diabetes patients harboring the homozygous PTF1A enhancer mutation: Need for a novel approach for the management of neonatal diabetes. Turk J Pediatr 2017; 59: 458-462. The enhancer of PTF1A mutation causes developmental defects of the pancreas. This condition can result in insulin-requiring diabetes and exocrine pancreatic insufficiency. We report two patients with diabetes mellitus harboring the homozygous PTF1A enhancer mutation...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29624226/clinical-and-imaging-features-of-malignant-infantile-osteopetrosis
#10
Miniar Tfifha, Mehdi Gaha, Wided Gamaoun, Jalel Chemli, Sameh Mabrouk, Saida Hassayoun, Noura Zouari, Hela Jemni, Saoussen Abroug
Tfifha M, Gaha M, Gamaoun W, Chemli J, Mabrouk S, Hassayoun S, Zouari N, Jemni H, Abroug S. Clinical and imaging features of malignant infantile osteopetrosis. Turk J Pediatr 2017; 59: 452-457. Human osteopetrosis is a rare genetic disorder caused by osteoclast failure. It encompasses a group of highly heterogeneous forms, ranged widely in severity. Patients with autosomal recessive osteopetrosis are the most severely affected osteopetrotic patients. Here we describe Tunisian children with severe phenotype...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29624225/nutritional-rehabilitation-for-children-with-congenital-heart-disease-with-left-to-right-shunt
#11
Nehal El-Koofy, Amira M Mahmoud, Aya M Fattouh
El-Koofy N, Mahmoud AM, Fattaouh AM. Nutritional rehabilitation for children with congenital heart disease with left to right shunt. Turk J Pediatr 2017; 59: 442-451. Children with congenital heart disease (CHD) are prone to malnutrition. We aimed to assess the nutritional status of infants with CHD and evaluate the role of nutritional counseling. A cohort study included 50 patients with acyanotic CHD causing increased pulmonary blood flow consecutively enrolled from the cardiology clinic in Cairo University Children Hospital...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29624224/impaired-glucose-tolerance-in-fanconi-bickel-syndrome-eight-patients-with-two-novel-mutations
#12
Berna Şeker-Yılmaz, Deniz Kör, Fatma Derya Bulut, Bilgin Yüksel, Aysun Karabay-Bayazıt, Ali Kemal Topaloğlu, Gülay Ceylaner, Neslihan Önenli-Mungan
Şeker-Yılmaz B, Kör D, Bulut FD, Yüksel B, Karabay-Bayazıt A, Topaloğlu AK, Ceylaner G, Önenli-Mungan N. Impaired glucose tolerance in Fanconi-Bickel syndrome: Eight patients with two novel mutations. Turk J Pediatr 2017; 59: 434-441. Fanconi-Bickel syndrome (FBS) is a rare, autosomal recessive disorder of carbohydrate metabolism caused by defects in the facilitative glucose transporter 2 (GLUT2 or SLC2A2) gene. Prominent findings are failure to thrive, renal tubular acidosis, hypoglycemia and postprandial hyperglycemia even mimicking diabetes mellitus...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29624223/risks-associated-with-mother-to-child-transmission-of-hiv-infection
#13
Félicitée Nguefack, Paul Koki Ndombo, Rose Ngoh, Florence Soh Fru, Mina Ntoto Kinkela, Andreas Chiabi
Nguefack F, Koki-Ndombo P, Ngoh R, Soh Fru F, Kinkela MN, Chiabi A. Risks associated with mother-to-child transmission of HIV infection. Turk J Pediatr 2017; 59: 426-433. Early infant diagnosis (EID) permits the detection of Human Immunodeficiency Virus (HIV) infection in exposed children from 4-6 weeks by polymerase chain reaction (PCR). The aim of this study was to assess some maternal and infant characteristics associated with HIV infected children in an EID program. A retrospective study was performed using records of HIV exposed children enrolled in the EID program from 2009 to 2013...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29624222/the-diagnostic-and-prognostic-value-of-angiopoietins-compared-with-c-reactive-protein-and-procalcitonin-in-children-with-febrile-neutropenia
#14
Esra Mimaroğlu, Elvan Çağlar Çıtak, Necdet Kuyucu, Gülçin Eskendari
Mimaroğlu E, Çıtak EÇ, Kuyucu N, Eskendari G. The diagnostic and prognostic value of angiopoietins compared with C-reactive protein and procalcitonin in children with febrile neutropenia. Turk J Pediatr 2017; 59: 418-425. In this study, we aimed to determine serum angiopoetin (Ang) levels and compare them with levels of C-reactive protein (CRP) and procalcitonin (PCT). Cancer patients (aged 0-18 years) who experienced febrile neutropenia attacks were included in the study. Ang-1, Ang-2, CRP, and PCT were analyzed at admission and 2nd day...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29624221/clinical-and-epidemiological-characteristics-of-children-with-germ-cell-tumors-a-single-center-experience-in-a-developing-country
#15
Sonay İncesoy-Özdemir, Ulya Ertem, Gürses Şahin, Ceyhun Bozkurt, Nazmiye Yüksek, Ayşe Ceyda Ören, Eda Balkaya, Afra Alkan
İncesoy-Özdemir S, Ertem U, Şahin G, Bozkurt C, Yüksek N, Ören AC, Balkaya E, Alkan A. Clinical and epidemiological characteristics of children with germ cell tumors: A single center experience in a developing country. Turk J Pediatr 2017; 59: 410-417. Germ cell tumor (GCT) is a rare malignancy accounting for 2-3% of all pediatric tumors. The overall survival rate of children and adolescents with GCT is more than 80% after adopting combined therapy. The aim of this study is to review clinical presentation, management, and outcome in a single-center series with extracranial GCT...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29624220/vitamin-d-receptor-gene-polymorphisms-in-children-with-kidney-stone-disease
#16
Berivan Subaşı, İbrahim Gökçe, Kenan Delil, Harika Alpay
Subaşı B, Gökçe İ, Delil K, Alpay H. Vitamin D receptor gene polymorphisms in children with kidney stone disease. Turk J Pediatr 2017; 59: 404-409. Kidney stone disease has a multifactorial etiology involving the interaction of genetic and environmental factors. There is an increased risk of stone formation in the relatives of idiopathic stone patients, which can be explained up to 60% by genetic factors. This study was conducted to explore the association of vitamin D receptor (VDR) gene polymorphisms with the risk of urolithiasis (UL) in Turkish children...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29624219/evaluation-of-antimicrobial-susceptibilities-and-virulence-factors-of-staphylococcus-aureus-strains-isolated-from-community-acquired-and-health-care-associated-pediatric-infections
#17
Adem Karbuz, Zeynep Ceren Karahan, Bilge Aldemir-Kocabaş, Alper Tekeli, Halil Özdemir, Haluk Güriz, Refik Gökdemir, Erdal İnce, Ergin Çiftçi
Karbuz A, Karahan ZC, Aldemir-Kocabaş B, Tekeli A, Özdemir H, Güriz H, Gökdemir R, İnce E, Çiftçi E. Evaluation of antimicrobial susceptibilities and virulence factors of Staphylococcus aureus strains isolated from community-acquired and health-care associated pediatric infections. Turk J Pediatr 2017; 59: 395-403. The aim of this study was to investigate the enterotoxins and Panton-Valentine leukocidin (PVL) gene as virulence factor, identification if antimicrobial sensitivity patterns, agr (accessory gene regulator) types and sequence types and in resistant cases to obtain SCCmec (staphylococcal cassette chromosome mec) gene types which will be helpful to decide empirical therapy and future health politics for S...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29624218/ectopic-intrathyroidal-thymus-in-children-prevalence-imaging-findings-and-evolution
#18
Oğuz Bülent Erol, Dilek Şahin, Zuhal Bayramoğlu, Ravza Yılmaz, Yunus Emre Akpınar, Ömer Faruk Ünal, Ensar Yekeler
Erol OB, Şahin D, Bayramoğlu Z, Yılmaz R, Akpınar YE, Ünal ÖF, Yekeler E. Ectopic intrathyroidal thymus in children: Prevalence, imaging findings and evolution. Turk J Pediatr 2017; 59: 387-394. The aim of this study was to evaluate the ultrasound (US) features of intrathyroidal ectopic thymus (IET) and demonstrate the alterations after follow-up. This study included 36 lesions of 32 patients (mean age 95 ± 58 months) diagnosed with IET. The patients underwent follow-up US examination at least 22-months without a medication or surgical intervention...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29624217/assessment-of-sleep-in-pediatric-cancer-patients
#19
Dilek İnce, Bengü Demirağ, Tuba Hilkay Karapınar, Yeşim Oymak, Yılmaz Ay, Arife Kaygusuz, Ersin Töret, Canan Vergin
İnce D, Demirağ B, Karapınar TH, Oymak Y, Ay Y, Kaygusuz A, Töret E, Vergin C. Assessment of sleep in pediatric cancer patients. Turk J Pediatr 2017; 59: 379-386. The purpose of the study is to describe sleep habits, assess the prevalence of sleep disturbances in pediatric cancer patients and healthy controls, and to compare sleep patterns, sleep problems. One hundred-thirty-five patients and 190 healthy controls were evaluated. Healthy children matched for age, sex, economic status, parental education and family structure constituted the control group...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29624216/esophageal-eosinophilia-in-children-a-6-year-single-center-experience
#20
Murat Çakır, Elif Sağ, Sevdegül Mungan, Ulaş Emre Akbulut, Fazıl Orhan
Çakır M, Sağ E, Mungan S, Akbulut UE, Orhan F. Esophageal eosinophilia in children: A 6-year single-center experience. Turk J Pediatr 2017; 59: 369-378. Esophageal eosinophilia (EE) and eosinophilic esophagitis (EoE) are emerging clinical entities, the prevalence of which has increased during the last 15 years. However, there is a lack of data concerning the etiology and outcomes of EE in children. The aim of this study was therefore to analyze the clinical findings and outcomes of children with EE and EoE in our pediatric gastroenterology unit over a 6-year period...
2017: Turkish Journal of Pediatrics
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