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Journal Turk. J. Pediatr.

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Congenital esophageal diverticulum in a very low birth weight infant: case report and review of literature.

Burcu Cebeci, Aslan Babayiğit, Seyithan Özaydın, Gökhan Büyükkale, Merih Çetinkaya,

BACKGROUND:A diverticulum is an outpouching of a tubular organ that is classified as congenital and acquired according to the involved layers of the gastrointestinal wall. Congenital true diverticulum has been very rarely seen in neonatal period and it is very difficult to diagnose it especially in premature infants. CASE:A male ... Read more >>

Turk. J. Pediatr. (The Turkish journal of pediatrics)
[2020, 62(3):520-524]

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Pyloroduodenal intussusception due to diffuse juvenile polyposis in a 3 year-old child: case report.

Tutku Soyer, Bilge Gördü, Özlem Boybeyi Türer, Berna Oğuz,

BACKGROUND:Pyloroduodenal intussusception (PDI) due to gastric and pyloric polyps is very rare and has not been reported previously in children. CASE:A 3 year-old boy was admitted with non-bilious vomiting and abdominal distention. Abdominal X-ray showed gastric air-fluid level and ultrasonography showed 5 cm intussusception at right upper quadrant. Upper gastrointestinal ... Read more >>

Turk. J. Pediatr. (The Turkish journal of pediatrics)
[2020, 62(3):501-504]

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Recurrent debilitating calf pain associated with fasciitis in Familial Mediterranean fever and response to canacinumab.

Belde Kasap Demir, Demet Alaygut, Caner Alparslan, Eren Soyaltın, Fatma Mutlubaş, Seçil Arslansoyu Çamlar, Önder Yavaşcan,

BACKGROUND:Myalgia is one of the presenting symptoms of Familial Mediterranean Fever (FMF), which is reported at a rate of 27-39.6%. Recurrent fasciitis in those cases are extremely rare. We aimed to present a case with FMF having radiologically proven fasciitis. CASE:An 11-year-old male patient with a diagnosis of FMF and ... Read more >>

Turk. J. Pediatr. (The Turkish journal of pediatrics)
[2020, 62(3):482-486]

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Congenital myotonia: a review of twenty cases and a new splice-site mutation in the CLCN1 gene.

Nezir Özgün, Hasan Taşlıdere,

BACKGROUND AND OBJECTIVES:Congenital Myotonia (CM) is a disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1). Mutations can be transmitted as autosomal dominant (Thomsen's disease) or recessive (Becker's disease). CM is more common in men and Becker myotonia may be 10 times more common than Thomsen myotonia. ... Read more >>

Turk. J. Pediatr. (The Turkish journal of pediatrics)
[2020, 62(3):450-460]

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Role of kallistatin in pediatric patients with pulmonary arterial hypertension.

Özge Pamukçu, Derya Ay, Kazım Üzüm, Didem Barlakketi, Mehmet Köse, Ali Baykan, Süleyman Sunkak, Nazmi Narin,

BACKGROUND AND OBJECTIVES:Kallistatin, a serine proteinase inhibitor, exerts its effect by vascular repair, angiogenesis inhibition, strong vasodilation, inhibition of vascular endothelial growth factor (VEGF), antiinflammation, and anti-apoptosis. We hypothesized as to whether it has a protective role in pulmonary arterial hypertension (PAH). METHODS:The study included 5 subgroups (78 patients; 44 ... Read more >>

Turk. J. Pediatr. (The Turkish journal of pediatrics)
[2020, 62(3):405-410]

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Effect of long-term glucocorticoid therapy on bone mineral density of the patients with congenital adrenal hyperplasia.

Sezin Ünal, Ayfer Alikaşifoğlu, Alev Özön, Nazlı Gönç, Nurgun Kandemir,

BACKGROUND AND OBJECTIVES:Congenital adrenal hyperplasia (CAH) is characterized by androgen excess which should be treated with life-long glucocorticoid therapy, thus can affect bone mineralization. We aimed to evaluate the bone mineral density (BMD) and determine the factors affecting bone mineralization in patients with CAH. METHOD:This prospective case-control study was conducted ... Read more >>

Turk. J. Pediatr. (The Turkish journal of pediatrics)
[2020, 62(3):359-366]

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A rare case of syndromic severe congenital neutropenia: JAGN1 mutation.

Funda Erol Çipe, Çiğdem Aydoğmuş, Kübra Baskın, Gonca Keskindemirci, Wojciech Garncarz, Kaan Boztuğ,

BACKGROUND:Neutrophils are essential innate cells to fight bacterial and fungal pathogens. Jagunal homolog 1 (JAGN1) mutations were recently defined as rare genetic defects causing severe congenital neutropenia. JAGN1 participates in the secretory pathway and is required for granulocyte colony-stimulating factor receptormediated signalling. This gene is required for normal ultrastructure and ... Read more >>

Turk. J. Pediatr. (The Turkish journal of pediatrics)
[2020, 62(2):326-331]

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Congenital afibrinogenemia in a 4-year-old girl complicated with acute lymphoblastic leukemia.

Alper Özcan, Bahadır Samur, Şefika Akyol, Necdet Arda Erdoğmuş, Türkan Patıroğlu, Musa Karakükçü, Ekrem Ünal,

BACKGROUND:Congenital fibrinogen deficiency is one of the rare inherited coagulation disorders. Congenital fibrinogen deficiency complicated with a hematological malignancy can be life threatening. CASE:We present a four-year-old girl with congenital fibrinogen deficiency complicated with acute lymphoblastic leukemia. CONCLUSION:This case aims to highlight therapeutic approaches for the management of afibrinogenemia patients ... Read more >>

Turk. J. Pediatr. (The Turkish journal of pediatrics)
[2020, 62(2):289-292]

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Ambulatory arterial stiffness index is increased in obese children.

Mehmet Taşdemir, Ergin Erginöz, Özlem Bostan Gayret, Ilmay Bilge,

BACKGROUND AND OBJECTIVES:One way to measure arterial stiffness is the ambulatory arterial stiffness index (AASI), which is the relationship between diastolic and systolic ambulatory blood pressure (BP) over 24-hours. METHODS:We studied the difference in AASI between obese and lean children. AASI was calculated from 24- hour ambulatory blood pressure monitoring ... Read more >>

Turk. J. Pediatr. (The Turkish journal of pediatrics)
[2020, 62(2):259-266]

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Clinical manifestation and outcomes of children with hypertrophic cardiomyopathy in Kosovo.

Ramush A Bejiqi, Ragip Retkoceri, Naim Zeka, Armend Vuçiterna, Aferdita Mustafa, Arlinda Maloku, Rinor Bejiqi,

BACKGROUND AND OBJECTIVES:Identification of the manifestations, assessment and follow up of children with hypertrophic cardiomyopathy (HCM) by transthoracic echocardiography may be important for clinical management and our understanding of pathogenesis. METHODS:We present a comprehensive analysis of 43 children seen in Kosovo, 23 were male, aged between 4 months and 9 ... Read more >>

Turk. J. Pediatr. (The Turkish journal of pediatrics)
[2020, 62(2):215-223]

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Sacroiliitis associated with familial Mediterranean fever in childhood: a case series and review of literature.

Deniz Gezgin Yıldırım, Hatice Kibriya Fidan, Sevim Gönen, Oğuz Söylemezoğlu,

BACKGROUND AND OBJECTIVES:Familial Mediterranean fever (FMF) is an autosomal-recessive auto-inflammatory disorder characterized by recurrent episodes of fever with serositis. Sacroiliitis associated with FMF is very rare, especially in children. We aimed to describe the demographic, clinical, laboratory features, and treatment responses of pediatric patients with FMF -related sacroiliitis. METHODS:The study ... Read more >>

Turk. J. Pediatr. (The Turkish journal of pediatrics)
[2020, 62(2):175-181]

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Obstructive jaundice and severe pancreatitis due to the foramen of Winslow hernia with multiple anomalies.

Neslihan Ekşi Bozbulut, İsmail Akdulum, Sinan Sarı, İbrahim Onur Özen, Yusuf Hakan Çavuşoğlu, Öznur Boyunağa, Aydın Dalgıç, Buket Dalgıç,

Internal hernia through the foramen of Winslow is a very rare condition, especially in children. Here we report a 16-month-old girl who presented with obstructive jaundice and elevation of pancreatic enzymes and was ultimately diagnosed with internal hernia and malrotation by radiologic investigation and open approach surgery. To the best ... Read more >>

Turk. J. Pediatr. (The Turkish journal of pediatrics)
[2020, 62(1):152-155]

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Dropped head related lamin A/C associated congenital muscular dystrophy case; previously defined as emerydreifuss muscular dystrophy.

Hande Tekin, Sanem Yılmaz, Hasan Tekgül, Sarenur Gökben, Gül Aktan,

Dropped head syndrome can be seen in many neuromuscular diseases. However, there are very few diseases in which neck extensors are weak among neuromuscular diseases. A 7 years old boy who had weakness of the neck extensor muscles, creatinine kinase elevation and dystrophy findings in biopsy followed up with the ... Read more >>

Turk. J. Pediatr. (The Turkish journal of pediatrics)
[2020, 62(1):130-135]

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A novel homozygous nonsense mutation (p.Y78*) in TMPRSS6 gene causing iron-refractory iron deficiency anemia (IRIDA) in two siblings.

Seda Çakmaklı, Çiğdem Kaplan, Mehmet Uzunoğlu, Merve Büyükbayram, Emel Görgülü, Nurten Özkan Zarif, Ebru Yılmaz Keskin,

Iron-refractory iron deficiency anemia (IRIDA) is an inherited iron metabolism disorder caused by mutations in TMPRSS6 gene encoding matriptase-2, which results in increased hepcidin synthesis. The hallmarks of the disease are hypochromic microcytic anemia, low transferrin saturation, slightly low or normal ferritin levels in contrast to classic iron deficiency anemia ... Read more >>

Turk. J. Pediatr. (The Turkish journal of pediatrics)
[2020, 62(1):103-108]

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Mother-child interaction and the development status of children who have been accidentally poisoned.

Ganime Ayar, Tülin Köksal, Funda Kurt, Aysun Kara Uzun, Bahar Çuhacı Çakır, Birgül Bayoğlu, Sıddıka Songül Yalçın,

Positive parent-child interaction, in particular bond between mother and child, is important for the mental and behavioral development of children. The aim of this study was to evaluate both mother-child interactions as well as the developmental status of children admitted to the pediatric emergency department with accidental poisoning using Parenting ... Read more >>

Turk. J. Pediatr. (The Turkish journal of pediatrics)
[2020, 62(1):61-67]

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Clinical and laboratory predictors of survival for pediatric patients on non-postcardiotomy extracorporeal membrane oxygenation (ECMO).

Güntülü Şık, Asuman Demirbuğa, Agageldi Annayev, Bahar Temur, Selim Aydın, Halil İbrahim Demir, Ersin Erek, Agop Çıtak,

Extracorporeal membrane oxygenation (ECMO) is used in pediatric patients with severe cardiopulmonary failure who do not respond to conventional therapy; only a few studies have been conducted in Turkey. We present the experience of pediatric ECMO with the aim of showing factors affecting mortality. We retrospectively reviewed our ECMO database ... Read more >>

Turk. J. Pediatr. (The Turkish journal of pediatrics)
[2020, 62(1):24-34]

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Choroid plexus papilloma in extragonadal teratoma with predominantly neurogenic elements: a case report and review of the literature.

İsmail Saygın, Emel Çakır, Mustafa Emre Ercin,

BACKGROUND:Teratoma is a germ cell tumor that develops gonadal or extragonadal. Benign or malign somatic tumors can develop in teratoma. Choroid plexus papilloma is a benign, grade I intraventricular neoplasm that occur mostly in children. Choroid plexus papilloma in a teratoma is not often seen. CASE:We present the fifth case ... Read more >>

Turk. J. Pediatr. (The Turkish journal of pediatrics)
[2020, 62(3):509-513]

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Low function of natural killer cells in treated classic Menkes disease.

Jayalakshmi Narayan Bhat, Paul Maertens,

BACKGROUND:Menkes disease (MD) is a rare lethal X-linked, multisystem disorder of copper metabolism resulting from mutations in the ATP7A gene. Features such as Ehlers- Danlos syndrome, trichopoliodystrophy, urologic and skeletal changes have been reported. We present a case of classic MD treated with copper infusions who suffered from persistent natural ... Read more >>

Turk. J. Pediatr. (The Turkish journal of pediatrics)
[2020, 62(3):498-500]

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The remarkable response to ponatinib therapy in a child with blastic phase of chronic myeloid leukemia.

Tekin Aksu, Şule Ünal, Fatma Gümrük,

BACKGROUND:Chronic myeloid leukemia (CML) rarely occurs in children and adolescents, which shows more aggressive features like high risk of more advanced disease at the time of diagnosis. Suboptimal response to tyrosine kinase inhibitors (TKIs), adverse events, or advanced disease may impede the treatment. CASE:Herein we present a nine-year-old chronic phase ... Read more >>

Turk. J. Pediatr. (The Turkish journal of pediatrics)
[2020, 62(3):479-481]

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Emotional support for parents with premature children admitted to a neonatal intensive care unit: a qualitative phenomenological study.

Sabiniana San Rafael-Gutiérrez, Purificación Escobar García, Alicia Saelices Prellezo, Laura Rodriguez Paulí, Beatriz Longueira Del-Castillo, Rafaela Blanco Sánchez,

BACKGROUND AND OBJECTIVES:Parents who have a premature child in neonatal intensive care units (NICUs) are in a stressful situation. The aim of this paper is to analyze the emotional support received by parents with premature children admitted to NICUs. METHODS:A phenomenological qualitative study with an explanatory and interpretative approach was ... Read more >>

Turk. J. Pediatr. (The Turkish journal of pediatrics)
[2020, 62(3):436-449]

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Is there any relationship between initial hematological parameters and severity of scorpion envenomation?

Özden Özgür Horoz, Dinçer Yıldızdaş, Nagehan Aslan, Sinem Sarı Gökay, Faruk Ekinci, Sevcan Erdem, Zeliha Haytoğlu, Yaşar Sertdemir, Hayri Levent Yılmaz,

BACKGROUND AND OBJECTIVES:Most cases of severe scorpion envenomation occur in children and are associated with significant morbidity and mortality. Excessive systemic inflammatory response, which leads to multiple organ involvement, is an emerging challenge during severe envenomation. The aim of this study was to investigate if there was any relationship between ... Read more >>

Turk. J. Pediatr. (The Turkish journal of pediatrics)
[2020, 62(3):394-404]

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Zinc deficiency and febrile seizure: a systematic review and meta-analysis.

Farhad Heydarian, Alireza Ataei Nakhaei, Hasan Mehrad Majd, Elham Bakhtiari,

BACKGROUND AND OBJECTIVES:Zinc has been reported to be low in children with febrile seizure compared to febrile cases without seizures, but results are inconsistent. A meta-analysis was performed to systematically evaluate the serum level of zinc in febrile children aged between 6-72 months with or without seizures. MATERIAL AND METHODS:A ... Read more >>

Turk. J. Pediatr. (The Turkish journal of pediatrics)
[2020, 62(3):347-358]

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Acute necrotizing encephalopathy with organic psychosis: a pediatric case report.

Leman Tekin Orgun, Ebru Arhan, Kürşad Aydın, Yasemin Taş Torun, Esra Güney, Ayşe Serdaroğlu,

BACKGROUND:Enteroviruses-associated acute necrotizing encephalopathy (ANE) of childhood is rarely reported in the literature. Clinico-radiological features of ANE are well-recognized and bilateral thalamic nuclei are frequently affected by ANE. Neuropsychiatric symptoms are rarely seen. Thalamic damage can cause psychosis. CASE:Herein, we present a pediatric case of enterovirus-associated ANE presenting with psychosis ... Read more >>

Turk. J. Pediatr. (The Turkish journal of pediatrics)
[2020, 62(2):320-325]

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Children with lymphoma presenting with hemophagocytic lymphohistiocytosis.

Tekin Aksu, Turan Bayhan, Belgin Gülhan, Selma Çakmakcı, Ayşe Selcen Oğuz, Neşe Yaralı, Namık Yaşar Özbek, İnci İlhan,

BACKGROUND:< 7b > Hemophagocytic lymphohistiocytosis (HLH) may precede malignancy, in particular lymphomas and leukemias. However, the causative factors, appropriate treatment and the prognosis of this association is not established. CASE:Herein, we present two patients, one with nodular sclerosing Hodgkin lymphoma (HL) and concomitant Epstein-Barr virus (EBV) infection, and the other ... Read more >>

Turk. J. Pediatr. (The Turkish journal of pediatrics)
[2020, 62(2):284-288]

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Outcomes and prognostic factors for pediatric cancer patients admitted to an intensive care unit in a university hospital.

Adem Dursun, Serkan Özsoylu, Başak Nur Akyıldız,

BACKGROUND AND OBJECTIVES:The aim of this study was to investigate the factors predicting Pediatric Intensive Care Unit (PICU) mortality and the outcomes in cancer patients admitted to PICU. METHODS:We conducted a retrospective study in 48 consecutive cancer patients admitted to the PICU between January 1, 2015 and January 1, 2018. ... Read more >>

Turk. J. Pediatr. (The Turkish journal of pediatrics)
[2020, 62(2):252-258]

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