Journal of Dr. Behcet Uz Children's Hospital最新文献

{"title":"A case of propionic acidemia presenting with choreoathetoid movements","authors":"E. Kanık, H. Ağın, A. Ünalp, Rana İşgüder, M. Küçük, E. Kayserili","doi":"10.5222/BUCHD.2012.114","DOIUrl":"https://doi.org/10.5222/BUCHD.2012.114","url":null,"abstract":"Propionic acidemia is a disorder of branch-chain aminoacid metabolism. The defect is in the propionyl-CoA carboxylase enzyme with a resultant accumulation of toxic organic acid metabolites. This disorder most commonly is characterized by episodic decompansations with dehydration, lethargy, nause and vomiting. Patients with propionic acidemia usually present in the neonatal period with life-threatining ketoacidosis, often complicated by hyperammonemia. Neurological findings and mental retardation could accompanied clinical manifestations. We report a six-month-old child who had been investigated for choreoathetoid movements and pancytopenia in our clinic with unusual manifestations with a diagnosis of propionic acidemia.","PeriodicalId":428200,"journal":{"name":"Journal of Dr. Behcet Uz Children's Hospital","volume":"15 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2013-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132157557","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The use of quantitative ultrasound in assessing bone mineral density in children with Type 1 diabetes.","authors":"H. Korkmaz, C. Dizdarer, Selda Mohan Tarancı, Ozlem Murat, A. Çoban, N. Ünal","doi":"10.5222/buchd.2012.088","DOIUrl":"https://doi.org/10.5222/buchd.2012.088","url":null,"abstract":"Objective: Our aim was to determine bone mineral density (BMD) in children with type 1 diabetes by quantitative ultrasonography (QUS) and influential factors. Methods: BMD was measured by QUS using Sunlight Omnisense 7000 device from the radius after the calibration. BMD SDS values of all patients were measured and compared with the reference data of Sunlight Omnisense 7000 device and those of published for healthy Turkish children. Results: Eighty six (41 females, 45 males) type 1 diabetic patients who had the mean age of 10.9±3.7 years were included in the study. The mean score of Z1-SDS was 0156±0830 (2.2-1.8), The mean score of Z2-SDS score was 0155±0799 (-2.3-1.8). SDS<0 and ≥0 values of Z1 and Z2 in type 1 diabetic children were analyzed in terms of duration of diabetes, mean HbA1c, daily insulin dose for use (Z1: 39.3±31.6 and 32.7±21.2/mo p>0.05, Z2: 39.2±29.8 and 34.4±30.9/mo p>0.05, Z1: 0.84±0.23 and 0.75±0.23U/kg/d p>0.05 Z2: 0.90±0,24 and 0.76±0.22 U/kg/d p<0.05, Z1: 9.62±2.00 and 8.94±1.86% p>0.05 Z2: 9.87±1.90, and 9.02±1.91 %; p>0.05). The daily insulin dosage in the group with Z2 bone density score of <0 was significantly higher than those with Z2> 0 (0.90±0.24 and 0.76±0.22 U/kg/day, respectively p<0.05). Conclusion: Ultrasonographic bone density measurement method may be used along with follow up of children with type 1 diabetes mellitus.","PeriodicalId":428200,"journal":{"name":"Journal of Dr. Behcet Uz Children's Hospital","volume":"80 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2013-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130293342","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Viral serology of patients admitted with asthma exacerbation.","authors":"B. Öksüz, Y. Yıldız, Abdullah Guvenli, M. Iğde","doi":"10.5222/BUCHD.2012.068","DOIUrl":"https://doi.org/10.5222/BUCHD.2012.068","url":null,"abstract":"Objective: One of the factors which triggers asthma exacerbation is viral infections. Rhinovirus and Respiratory Syncytial Virus are frequent isolates. In this study active bacterial agents in acute asthma exacerbations and detection of the dominant viruses in our region were investigated. Methods: This study was performed with 35 randomly selected pediatric patients. Twentyone of them were admitted with acute exacerbation of asthma, and followed up in our allergy outpatient clinic between October 2011-February 2012 with diagnosis of asthma. As the control group 14 non-asthmatic patients who suffered from respiratory tract infections were included. Patients’ nasopharyngeal swab specimens were studied for the viral serologic panels with the method of multiplex PCR. Results: General characteristic features of the groups were similar. In asthmatic group 12 patients (57%), in the control group 3 patients (21%) had virus positive results. The most commonly encountered virus in the asthmatic group were Respiratory Syncytial Virus (n:5; 41.6%) and Human Rhinovirus (n:4; 33.3%), in the control group Adenovirus (n:1; 33,3%), Influenza A Virus (n:1; 33.3%), Influenza B Virus (n:1; 33.3%) were detected. Conclusion: Viral infections are the leading factors of asthma exacerbations. To determine the agent may be important for the prophylaxis and new therapies for the attacks. Viruses were isolated from a small number of patients in our study but studies with the large number of populations with different asthma phenotypes are needed to develop effective treatment strategies against asthma attacks which are triggered with specific viral pathogens seen regionally.","PeriodicalId":428200,"journal":{"name":"Journal of Dr. Behcet Uz Children's Hospital","volume":"112 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2013-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133109564","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Use of rhDNase in a 30-week premature baby with resistant atelectasis.","authors":"Midhat Kuşkaya","doi":"10.5222/buchd.2012.122","DOIUrl":"https://doi.org/10.5222/buchd.2012.122","url":null,"abstract":"Atelectasis is defined as partial or complete collapse of one lung. This condition generally accompanies many lung or chest diseases, and becomes manifest with the symptoms of the underlying disease. Mucous plugs contain a lot of deoxyribonucleic acid (DNA). Recombinant human DNase (rhDNase) liquefies the extracellular deoxyribonucleic acid (DNA) in mucous plugs and transforms it from a viscous gel to a flowing liquid. Limited therapeutic options in newborns with resistant atelectasis created the need for a new treatment which would be safe and effective. In this article, a 30-week premature baby who was diagnosed as atelectasis and hospitalized 15th day after birth and treated with a non-invasive nebulized rhDNAse is presented, and discussion of rhDNase treatment in newborns is aimed.","PeriodicalId":428200,"journal":{"name":"Journal of Dr. Behcet Uz Children's Hospital","volume":"12 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2013-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129104382","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"B12 vitamin level in children and its relationship with complete blood count parameters.","authors":"A. Çolak, M. Anıl, B. Toprak, E. Köse, Füsun Üstüner","doi":"10.5222/BUCHD.2012.075","DOIUrl":"https://doi.org/10.5222/BUCHD.2012.075","url":null,"abstract":"Objective: In our study, we aimed to determine the level of vitamin B12, and the relationship between complete blood count parameters and vitamin B12 level in children aged 1-5 years admitted to our outpatient clinic. Methods: Children aged 1-5 years who were consulted to Izmir Tepecik Training and Research Hospital between 2008-2012 without chronic disease, but thought to have B12 vitamin deficiency were included in the study. Serum vitamin B12, folic acid levels and complete blood counts were measured in all cases. Results: A total of 404 children (mean age: 3.2±1.1 years, median age: 4 years, age range: 1-5; 183 females/221 males) were included. Ninty-four (23.3%) children had vitamin B12 deficiency. Patient’s age, gender, the frequency of folic acid acid deficiency, and anemia and the levels of complete blood count parameters were not significantly different in cases with and without B12 deficiency (p>0.05). Serum vitamin B12 levels were not significantly correlated with the complete blood count parameters (p>0.05). Conclusion: Vitamin B12 deficiency is a common condition in children. Measurement of complete blood count is insufficient to predict vitamin B12 deficiency in children.","PeriodicalId":428200,"journal":{"name":"Journal of Dr. Behcet Uz Children's Hospital","volume":"26 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2013-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131463832","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epididymal cyst, a rare cause of pediatric childhood scrotal mass: case report.","authors":"F. Karaca, Erdal Türk, Y. Edirne, A. Tan","doi":"10.5222/buchd.2012.111","DOIUrl":"https://doi.org/10.5222/buchd.2012.111","url":null,"abstract":"Epididymal cysts are very rare benign cysts of the rete testis, ductuli efferentes or epididymis. They usually present in peripubertal males with scrotal pain or mass and can also be diagnosed incidentally during a physical examination. They can be seen at a rate of 5-14% depending on age of the children with a scrotal anomaly. The etiology is not fully known but they are seen more commonly (20%) in children whose mother received diethylstilbestrol during pregnancy. The diagnosis is with physical examination and ultrasonography. The cysts resolve spontaneously in most cases and can be therefore safely monitored unless they are very big or cause pain. Painful cysts may need to be excised. We present a 13-year-old case with an epididymal cyst who presented with a left scrotal mass and pain and had to undergo excision after 6 months of monitoring as the pain did not resolve.","PeriodicalId":428200,"journal":{"name":"Journal of Dr. Behcet Uz Children's Hospital","volume":"114 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2013-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123410488","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Closed lip schizencephaly: a case report.","authors":"V. Arıca, A. Karakuş, I. Silfeler, S. Arıca, M. Altaş, M. Tutanç, F. Basarslan, T. Çelik, R. Davran","doi":"10.5222/BUCHD.2012.118","DOIUrl":"https://doi.org/10.5222/BUCHD.2012.118","url":null,"abstract":"Schizencephaly, has been defined as an almost symmetrical bilateral cleft along the cerebral hemisphere. Clinical findings in patients with schizencephaly depends on the type of clefts (on of off type) and the amount of malformed parenchyma. Incidence of schizencephaly is unclear, while a population-based study performed in the United States reported its incidence as 1.54:100000. These types of cortical developmental malformations had variable clinical signs depending on the function of the affected area which range widely from mental-motor retardation and epilepsy to focal neurological disorders. We also presented a very rare case with bilateral cleft palate aged 4 years who was referred with recurrent afebrile convulsive episodes and diagnosed as schizencephaly, subependimal heterotopia and temporal lobe epilepsy by cranial MRI","PeriodicalId":428200,"journal":{"name":"Journal of Dr. Behcet Uz Children's Hospital","volume":"76 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2013-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134189087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluating blood pressure of children with tonsillar hypertrophy without OSAS by 24-hour ambulatory blood pressure monitorization.","authors":"S. Gozmen, I. Akil","doi":"10.5222/BUCHD.2012.080","DOIUrl":"https://doi.org/10.5222/BUCHD.2012.080","url":null,"abstract":"Objective: Respiratory disorders related to sleeping problems are examined in a wide spectrum ranging from simple snoring to obstructive sleep apnea syndrome. Hypertension and the risk for cardiovascular morbidity because of obstructive sleep apnea syndrome have been demonstrated in many previous studies. But, there are limited number of studies demonstrating the influential blood pressure changes during the rime interval from primary snoring to obstructive sleep apnea syndrome. Methods: Twenty children who had no obstructive sleep apnea symptoms with tonsillar hypertrophy (grade 3-4) and twenty children as control subjects (range: 6-13 years) were included in this study. Healthy children consisting of equal number of boys and girls who were in the same age group with the patient group with no complaints were chosen as a control group. All participants were evaluated by twenty 24-ambulatory blood pressure monitorization, and the data obtained were compared. Results: There was no significant difference between the groups as for average blood pressure measurements obtained during the whole day, daytime and at night Still blood pressure load, blood pressure index and blood pressure variability of both groups did not differ statistically significantly. The number of non-dippers in the patient group was greater than the those in the control group. Although intergroup difference did not reach a statistical significance. Conclusion: This study showed that cardiovascular complications like systemic hypertension did not become manifest in children with tonsillar hypertrophy but without any sign of clinical obstructive sleep apnea. Higher number of non-dippers in the patient group, reveal the requirement for larger population-based studies.","PeriodicalId":428200,"journal":{"name":"Journal of Dr. Behcet Uz Children's Hospital","volume":"146 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2013-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123545270","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurodevelopmental follow-up results in very low birth weight premature infants and influential factors.","authors":"S. Sutçuoglu, Aysu Dikerler, O. Halıcıoğlu, M. Akkaya, C. Ozturk, S. Akman, E. Ozer","doi":"10.5222/buchd.2012.094","DOIUrl":"https://doi.org/10.5222/buchd.2012.094","url":null,"abstract":"Objective: To investigate the frequency of long-term neurodevelopmental disorders and evaluate risk factors it was aimed for growth, and developmental retardation in very low birth weight infants who were discharged from Neonatal Intensive Care Unit. Methods: Sixty-one preterm infants with birth weights under 1500 grams hospitalized in Neonatal intensive Care Units at Izmir Tepecik Teaching and Research Hospital between January and December 2007 were retrospectively evaluated. Demographical features, complications encountered during hospitalization and clinical risk factors affecting growth retardation were recorded. Infants were examined for growth and neurological development corrected for 18 and 24 months of age and Denver Developmental Screening Test was used for determining neurological development. Results: The main findings were as follows: 45.9% of the cases was male, the mean gestational age was 29 ± 2.1 weeks and mean birth weight was 1205 ± 214 grams. Risk factors that influenced the neurodevelopmental prognosis were respiratory distress syndrome (80.3%), clinical sepsis (50.8%), monitorization with mechanical ventilation (39.3%) and need for surfactant (37.7%). Denver Developmental Screening test found smaller head circumference and height of infants with growth retardation at 18., and 24. months of age relative to their peers with normal neurodevelopmental status.The rates of clinical sepsis, surfactant administration, mechanical ventilation, bronchopulmonary dysplasia and intraventricular hemorrhage were statistically significant height in very low birth weight infants with abnormal neurodevelopment corrected for 24 months of age (p<0,05). These infants also showed growth retardation both at 18 and 24 months of age (p<0,05). Conclusion: Clinical sepsis, surfactant need, monitorization with mechanical ventilation, bronchopulmonary dysplasia and severe intraventricular hemorrhage are risk factors that influence neurodevelopmental prognosis in very low birth weight preterm infants.","PeriodicalId":428200,"journal":{"name":"Journal of Dr. Behcet Uz Children's Hospital","volume":"51 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2013-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129292343","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Canavan disease in the differential diagnosis of macrocephaly: case report.","authors":"E. Bayram, Y. Topçu, P. Karakaya, U. Yiş, H. Çakmakçı, S. Kurul","doi":"10.5222/BUCHD.2012.107","DOIUrl":"https://doi.org/10.5222/BUCHD.2012.107","url":null,"abstract":"Canavan disease, is an autosomal recessive disorder caused by decreased function of the enzyme aspartoacylase due to genetic mutations. The highest prevalence is among Ashkenazi jewish. The clinical symptoms include macrocephaly, hypotonia, developmental delay, seizures, optic atrophy and dystonia. A patient with psychomotor developmental delay, hypotonia and macrocephaly, who was diagnosed as Canavan disease after the investigations is presented to highlight the neurodegenerative diseases in the differential diagnosis of early childhood macrocephaly.","PeriodicalId":428200,"journal":{"name":"Journal of Dr. Behcet Uz Children's Hospital","volume":"14 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2013-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126252674","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}