{"title":"Familial Mediterranean fever presenting with protracted febrile myalgia: a case report.","authors":"C. Ozturk, S. Sutçuoglu, E. Ozer, S. Akman","doi":"10.5222/BUCHD.2013.063","DOIUrl":"https://doi.org/10.5222/BUCHD.2013.063","url":null,"abstract":"The clinical spectrum of familial Mediterranean fever (FMF) expanded especially in the last fifteen years, so “protracted febrile myalgia” is now considered as one of the clinical manifestations of the FMF. We present a 12-year-old girl who was admitted to the Pediatrics Clinic with fever and severe myalgia in her upper and lower extremities lasting for 10 days before the diagnosis of FMF. Her genetic diagnosis was homozygosity for M694V mutation. We emphasize that protracted febrile myalgia in some cases of FMF could be the first symptom during childhood. The case was presented with the review of the literature.","PeriodicalId":428200,"journal":{"name":"Journal of Dr. Behcet Uz Children's Hospital","volume":"27 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2013-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126025810","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}
C. Çevik, M. Tutanç, I. Silfeler, E. Akbay, Ummu Alakus
{"title":"A rare complication of acute otitis media: a 6-month old infant with peripheral facial paralysis.","authors":"C. Çevik, M. Tutanç, I. Silfeler, E. Akbay, Ummu Alakus","doi":"10.5222/buchd.2013.067","DOIUrl":"https://doi.org/10.5222/buchd.2013.067","url":null,"abstract":"","PeriodicalId":428200,"journal":{"name":"Journal of Dr. Behcet Uz Children's Hospital","volume":"23 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2013-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128499350","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":"How is atopic dermatitis diagnosed in children","authors":"P. Uysal, N. Uzuner","doi":"10.5222/buchd.2013.001","DOIUrl":"https://doi.org/10.5222/buchd.2013.001","url":null,"abstract":"Atopic dermatitis is a chronic inflammatory skin disease associated with cutaneous hyperreactivity to various environmental triggers including allergens, chemicals and infections. Atopic dermatitis is often the initial step in ‘atopic march’. Atopic dermatitis might be a cutaneous manifestation of a systemic disorder that also continues with food allergy and wheezing episodes in infancy period, and gives rise to asthma and allergic rhinitis. Severe atopic dermatitis is seen particulary in children with filaggrin (FLG) gene mutation and/or early beginning symptoms in high risky infants with a history of familial atopy. The diagnosis is based on the clinical findings, and an objective laboratory test does not exist. Therefore, it is important to determine the severity of atopic dermatitis with a validated clinical severity scoring index to predict both future development of allergic diseases and also possible fatal complications.","PeriodicalId":428200,"journal":{"name":"Journal of Dr. Behcet Uz Children's Hospital","volume":"26 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2013-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129347606","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}
H. Yıldırım, G. Diniz, S. Aktaş, R. Ortaç, M. Ergin, S. Targan, M. Bak
{"title":"Histopathologic differential diagnosis of neonatal cholestasis.","authors":"H. Yıldırım, G. Diniz, S. Aktaş, R. Ortaç, M. Ergin, S. Targan, M. Bak","doi":"10.5222/BUCHD.2013.028","DOIUrl":"https://doi.org/10.5222/BUCHD.2013.028","url":null,"abstract":"","PeriodicalId":428200,"journal":{"name":"Journal of Dr. Behcet Uz Children's Hospital","volume":"40 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2013-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130157514","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":"Rebound compulsive behaviors upon abrupt discontinuation of valproate in a child with autistic disorder.","authors":"Ozalp Ekinci, T. Çelik, F. Toros","doi":"10.5222/BUCHD.2013.071","DOIUrl":"https://doi.org/10.5222/BUCHD.2013.071","url":null,"abstract":"Compulsive behaviors are commonly encountered in children and adolescents with Autistic Spectrum Disorders (ASD). Psychotopic drugs are shown to be effective in the treatment of compulsive behaviors, stereotypical movements and aggressive symptoms. Valproate is usually used for the comorbid epilepsy in ASD. The role and efficacy of valproate in the psychiatric treatment of ASD, however, have been shown in a limited number of studies. In this case report, the abrupt discontinuation of valproate by family, which has been used for the treatment of epilepsy, in an 16-year-old girl with autistic disorder will be presented. In this case, rebound compulsive behaviors emerged with the discontinuation of valproate and symptoms disappeared with the restarting of the drug. In the management of ASD cases, especially for the drug treatment, family education and close follow up are of vital importance.","PeriodicalId":428200,"journal":{"name":"Journal of Dr. Behcet Uz Children's Hospital","volume":"20 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2013-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125659085","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}
A. Türedi, H. Demirbilek, S. Saygı, Ç. Aliosmanoğlu, M. Söker
{"title":"Combined nutritional anemia coexisting with microcytic anemia.","authors":"A. Türedi, H. Demirbilek, S. Saygı, Ç. Aliosmanoğlu, M. Söker","doi":"10.5222/BUCHD.2013.044","DOIUrl":"https://doi.org/10.5222/BUCHD.2013.044","url":null,"abstract":"","PeriodicalId":428200,"journal":{"name":"Journal of Dr. Behcet Uz Children's Hospital","volume":"4 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2013-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115642556","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}
E. Bayram, Y. Topçu, P. Karaoğlu, U. Yiş, H. Guleryuz, S. Kurul
{"title":"Van der Knaap disease: case report.","authors":"E. Bayram, Y. Topçu, P. Karaoğlu, U. Yiş, H. Guleryuz, S. Kurul","doi":"10.5222/BUCHD.2013.060","DOIUrl":"https://doi.org/10.5222/BUCHD.2013.060","url":null,"abstract":"","PeriodicalId":428200,"journal":{"name":"Journal of Dr. Behcet Uz Children's Hospital","volume":"35 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2013-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127877116","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 potential effects of omega-3 fatty acids on asthma pathogenesis.","authors":"K. Eliaçık, A. Yenigün","doi":"10.5222/BUCHD.2012.055","DOIUrl":"https://doi.org/10.5222/BUCHD.2012.055","url":null,"abstract":"Asthma is a chronic lung disorder marked by recurring episodes of airway obstruction accompanied especially by wheezing and coughing and by a sense of constriction in the chest, and triggered by hyperreactivity to various stimuli. Its pathophysiology involves mucus hypersecretion, bronchial hyperresponsiveness, smooth muscle hypertrophy and airway obstruction. Current therapeutic modalities of asthma have not been proved to be successful in reversing the already established chronic changes in airways. Ultimately, an important part of the treatment will aim at immunomodulation and preventing the chronic irreversible changes in asthma. For this reason interventions including dietary changes before the sensitization and remodelling period would be beneficial in terms of preventing those changes. Very long chain fatty acids are the substrates for cyclooxygenase and lipoxygenase and give rise to mediators that often have different biological actions or potencies than those formed from arachidonic acid. This paper provides a short synopsis of the immunological pathology of asthma and discusses potential targets for omega-3 fatty acids.","PeriodicalId":428200,"journal":{"name":"Journal of Dr. Behcet Uz Children's Hospital","volume":"23 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":"121796221","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":"A significant screening test: red reflex examination.","authors":"S. M. Kayıran, S. Onal","doi":"10.5222/BUCHD.2012.051","DOIUrl":"https://doi.org/10.5222/BUCHD.2012.051","url":null,"abstract":"Red reflex testing is an essential component of the pediatric examination. The test is used to detect opacities in the visual axis, such as cataracts, corneal opacities, and abnormalities of the fundus including retinoblastoma and retinal detachment. When both eyes are viewed simultaneously, potential amblyogenic conditions, such as asymmetric refractive errors and strabismus, can be identified. Ophthalmoscope is focused on each pupil from 30-45 cm away. Then both eyes are viewed simultaneously from 90 cm away. Dark dots in the red reflex, a blunted or absent red reflex, or presence of a white reflex (leukocoria) are indications for referral of the patient to the ophtalmologist.","PeriodicalId":428200,"journal":{"name":"Journal of Dr. Behcet Uz Children's Hospital","volume":"11 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":"126434034","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}
Y. Oymak, A. Yıldırım, Y. Yaman, G. Ozek, Ozgur Carti, Burcak Tatli Gunes, Esin Albudak, Muhittin Dag
{"title":"Evaluation of bleeding symptoms of the patients with factor VII deficiency and its association with factor VII activity","authors":"Y. Oymak, A. Yıldırım, Y. Yaman, G. Ozek, Ozgur Carti, Burcak Tatli Gunes, Esin Albudak, Muhittin Dag","doi":"10.5222/buchd.2012.102","DOIUrl":"https://doi.org/10.5222/buchd.2012.102","url":null,"abstract":"Objective: Factor VII (FVII) deficiency has autosomal recessive inheritance and become increasingly important in areas where consanguineous marriages are common as is in our country. Clinical heterogeneity is the hallmark of this hemorrhagic disorder. In this study we aimed to assess the relationship between the clinical characteristics and levels of FVII of the patients with FVII deficiencies followed-up in our center. Materials and Methods: Medical files of 14 patients who were followed in Dr. Behçet Uz Children’s Hospital since 1997 were retrieved. Demographic characteristics, age, initial findings, prothrombin time (PT) and FVII levels were obtained from patients’ files. Age at diagnosis, the relationship between FVII levels and PT was evaluated with a nonparametric Pearson correlation test. Results: Mean age at the time of diagnosis was 8.29±4.86 years. The mean values of PZ and FVII were found as 24 (13.2-82.0) sec and 22.3% (2.32-45.0) respectively. Six patients were presented with different symptoms as intracranial hemorrhage (14.2%), post-traumatic splenic hematoma (7.1%), menorrhagia (7.1%), ecchymosis (7,1%) and epistaxis (7,1%). Eight patients admitted to the pre-operative prolonged PT. The patients’ prolonged PT values were associated with decreased FVII levels (r=-0.62, p=0.02). However no relationship was found between FVII levels and age at diagnosis (r=0.27, p=0.34). PT values were correlated with age of the patients at diagnosis (r=-0.59, p=0.03). Conclusions: Clinical heterogeneity and its independence to the levels of FVII were also observed in our study A significant correlation was found between PT and age at diagnosis. However, the level of FVII is not associated with age at diagnosis. This finding can be explained by independence of clinic findings from FVII level and some patients’ asympomatic clinical course.","PeriodicalId":428200,"journal":{"name":"Journal of Dr. Behcet Uz Children's Hospital","volume":"8 3 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":"126142551","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}