Background: Urolithiasis is endemic in Turkey and characteristics of urolithiasis vary in different regions of the world. The aim of the present study was to evaluate the etiological and clinical characteristics and course of pediatric urolithiasis in south-east Turkey. Methods:The study population consisted of 81 children (52 girls) with urolithiasis at a mean age of 6.2 ± 4.2 years who were followed up for 1-32 months.Results: Metabolic disorders, anatomical defects and infection stones were found to be the etiological factor in 34.6, 29.6 and 22.2% of patients, respectively, while 13.6% of patients were considered idiopathic. Of all patients, 28.4% were admitted with acute renal failure (ARF) and 72.8% had urinary tract infection. Recurrence was seen in 19.8% of patients at presentation. The localization of the stone was found to be in the upper urinary tract, the lower urinary tract or both in 65.4, 14.8% and 17.3% of patients, respectively. Patients with multiple and bilateral stones had a higher risk for ARF than the others. The risk for chronic renal failure was significantly higher in children with multiple, bilateral or recurrent stones and with ARF at presentation. Conclusions: Early diagnosis and management of renal stones and urinary tract infections is necessary to prevent the development of ARF or chronic renal failure and to improve the quality of a patient's life.
Double-chambered left ventricle (DCLV) is a rare congenital abnormality in which the left ventricle is divided into two separate chambers by a septum or anomalous muscular structure. The chambers are observed mostly parallel to each other without stenosis, and less frequently in a superior-inferior arrangement. An asymptomatic girl is presented here who was diagnosed with DCLV on echocardiographic examination that was performed for the evaluation of cardiac murmur detected by a pediatrician. She has been followed up without treatment.
Background Despite implementation of a controlled diet, children with classical galactosemia (CG) may develop a variety of developmental and cognitive problems. In this study, we examined the early developmental status of, as well as the neurological and neuroradiological findings for, children with CG. Methods We retrospectively evaluated 46 galactosemia patients who were followed between 2003 and 2017. We included those who exhibited CG and p.gln188arg homozygous mutation without concomitant disease and who had undergone detailed neurological examination, brain magnetic resonance imaging (MRI), and Denver II developmental testing. Results The mean ages at the time of the most recent neurological examination and Denver II testing were 48.5 ± 28.5 months and 34.4 ± 18.2 months, respectively. Developmental delay was defined as developmental age ≥ 20% lower than chronological age. The results were normal in 25 patients and delayed ≥ 20% in least in one domain, primarily in language development, in 21 patients. Brain MRI was abnormal in 22 patients. Conclusions This analysis of the youngest children with the same genetic mutation reported thus far showed that, despite treatment, developmental delays and abnormalities on brain MRI may begin at an early age.
Objectives: To analyze the clinical and laboratory data of neonates diagnosed with Zellweger syndrome and to estimate the incidence of the syndrome. Methods: The databases of four institutions that admitted newborns diagnosed with Zellweger syndrome to intensive care units between January 2013 and December 2016 were examined. Results: A total of 105,887 live babies were born in the four centers during the study period. Seven were diagnosed with Zellweger syndrome; the incidence was thus 1/15,126. Birth weights were 2,200 -3,300 g. Six cases were born to consanguineous parents. Dysmorphic findings, respiratory failure, and hypotonia were evident in all patients. Hepatomegaly was apparent in four cases, congenital cardiac defects in four, characteristic cerebral magnetic resonance imaging findings in four, renal cysts in five, hepatic cysts in three, and splenomegaly in one. PEX1 mutations were identified in three patients, and one mutation was novel. Conclusions:The incidences of Zellweger syndrome and cardiac disease were higher than reported previously, being (to the best of our knowledge) among the highest reported worldwide. This is the first time that such incidences have been calculated in Turkey. The syndrome is more common in regions where consanguineous marriage rates are higher.
Aim: In this study, it was aimed to determine the problems of the neonates who were diagnosed with congenital heart disease requiring early intervention in our hospital. Material and Methods:The files of the newborn babies with congenital heart disease requiring early intervention who were admitted to the neonatal intensive care unit of our hospital between January 2011 and January 2013 were evaluated retrospectively. In all cases, echocardiography and ''Score for Neonatal Acute Physiology-II" (SNAP-II) scoring were performed within the first day of admission. The data were interpreted using Number Cruncher Statistical System 2007 software. The statistical significance was set at p<0.05. Results: A total of 83 babies were included in the study. Forty six of the patients were male (55%), and 37 (45%) were female. Sixty eight percent of the patients were referred from the neighboring provinces and 32% were transferred from the centers within the city. The age range was between 0 and 28 (5.6±6.4 day) days. The SNAP-II scores upon admission ranged between 0 and 90 (mean: 20±20.3). None of the patients was diagnosed prenatally. The most common diagnoses included transposition of the great arteries (33.7%) and pulmonary atresia (19.3%). Nineteen (22%) patients were lost in the neonatal intensive care unit. There was a significant relationship between the mortality and the SNAP-II scores (p=0.0001) and use of vasopressors (p=0.004). The diagnosis, gender, use of alprostadil and age were not related to mortality. Three patients were discharged following planning of elective surgery and 60 patients were referred to a tertiary center by air ambulance. Conclusions:The results of our study indicated that prenatal diagnosis could not be made in neonates with congenital heart disease requiring intervention in our region. The mortality rates of these patients were related to the severity of the clinical status at presentation rather than to the age, gender and type of congenital heart disease. The mortality was much higher in the patients who developed circulatory failure. Most of the patients who survived were sent by air ambulance to the centers where the intervention was to be performed. (Turk Pediatri Ars 2015; 50: 158-62)
Objective: The aim of the study was to examine and compare hepatitis A seropositivity in children. Materials and Methods: The study included patients aged 0-18 years who presented to our hospital and were examined for hepatitis A virus serology between 2009 and 2018. Patients were separated into 2 groups: those who presented before (group I) or after (group II) September 2012, when the mandatory hepatitis A vaccination program came into effect in Turkey. Results: In total, 34 809 patients were evaluated: 20 111 (57.8%) males and 14 698 (42.2%) females, with a mean age of 8.2 ± 5.3 years. Anti-hepatitis A virus immunoglobulin M positivity was observed in 3.3% of patients, most often in January and from January to April when the region experiences more rainfall. Anti-hepatitis A virus immunoglobulin M positivity decreased dramatically in group II compared to group I (0.26% vs. 7.42%, P < .001). Anti-hepatitis A virus immunoglobulin G positivity was observed in 53.8% of all patients. A statistically significant increase was determined in anti-hepatitis A virus immunoglobulin G seropositivity in group II compared to group I (81.9% vs. 42.1%, P < .001). Conclusion : Hepatitis A virus infection in Turkey decreased dramatically following improvements to infrastructure and sanitation and implementation of the vaccination program. This study is the most comprehensive report of hepatitis A seropositivity in Turkey to date.
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