VENTRİKÜLER SEPTAL DEFEKTLİ BİR APERT SENDROMU OLGUSU

Apert syndrome is a congenital malformation syndrome which is associated withcraniosynostosis, craniofacial anomalies, syndactyly and congenital heart defects.Several cardiovascular abnormalities including atrial septal defect, ventricular septaldefect or patent ductus arteriosus were reported in 10% of the patients with Apertsyndrome. Herein, we report a case of Apert syndrome with ventricular septal defectdiagnosed at 2-month-old age and aim to emphasize the clinical and laboratoryfeatures of Apert syndrome in the light of this case. We also aim to attract the attentionof the pediatricians to the careful cardiologic examination in every newly diagnosedcase of Apert syndrome for early detection of possible heart defects.Apert sendromu, kraniyosinostoz, kraniyofasyal anomaliler, sindaktili ve konjenital kalpdefektleri ile giden bir konjenital malformasyon sendromudur. Apert sendromluhastaların %10'unda atriyal septal defekt, ventriküler septal defekt veya patent duktusarteriozus gibi çeşitli kardiyovasküler anormallikler bildirilmiştir. Bu yazıda 2 aylıkkentanı alan ventriküler septal defektli bir olgu sunuyor ve bu olgunun ışığında Apertsendromunun klinik ve laboratuar özelliklerini vurgulamayı amaçlıyoruz. Ayrıca yenitanı alan her Apert semdromlu olguda, olası kardiyak defektlerin erken teşhisi içindikkatlı bir kardiyak muayene yapılmasının gerekliliğine çocuk hekimlerinin dikkatiniçekmeyi amaçlıyoruz

WHEEZY CHILD UNRESPONSIVE TO BRONCHODILATOR THERAPY

Yabancı cisim aspirasyonları süt çocukluğu ve erken çocukluk döneminde sık ve hayatı tehdit edebilen bir durumdur. Yabancı cisim aspirasyonu olan hastaların %50'sinde tipik aspirasyon öyküsü bulunmayabilir. Bu çocuklarda, ilk öksürük nöbetine tanık olunmamış olabilir veya ailelerin bu semptomların önemini anlayacak kadar medikal bilgisi olmayabilir. Atipik veya uzamış solunum bulguları hekim için uyarıcı olmalı, klinik ve radyolojik bulgular olası yabancı cisim aspirasyonu açısından dikkatlice değerlendirilmelidir. Burada; infantil astım tanısı ile izlenmekte olan ve bronkodilatatör tedaviden fayda görmediği ağır atak sırasında çekilen toraks tomografi tetkikinde yabancı cisim saptanan bir vaka sunulmuştur. Foreign body aspiration in infants and young children is a common and potentially lifethreatening event. 50% of the patients with foreign body aspiration may not have a history of a typical aspiration. Initial choking episode of children was not witnessed or the parents did not have the adequate medical knowledge about the importance of these symptoms. Atypical or prolonged respiratory symptoms should alert the physician and clinical and radiological findings should be carefully evaluated for a possible foreign body aspiration. Here we report a child who was followed as infantil asthma and detected a foreign body with computerized tomography during a severe attack unresponisive to bronchodilators

Investigation of the immunoreactivities of nitric oxide synthase enzymes and the effect of sumatriptan and topiramate in adolescent rats using an experimental model of migraine

Amaç: Deneysel bir migren modeli oluşturarak adolesan ratların beyninde nitrik oksit sentetaz enzimlerinin immunreaktivitelerinin incelenmesi ve sumatriptan ve topiramat tedavilerinin bu enzimlerin immunreaktivitelerine olan etkilerinin araştırılmasıdır. Gereç ve Yöntem: Wistar cinsi erkek adolesan sıçanlar (66-115g) kullanılmıştır. Trigeminovasküler sistemin uyarılması amacıyla anestezi altındaki sıçanlara sisterna magnaya proinflamatuvar bir madde olan carrageenan uygulanmıştır. Sumatriptan ve topiramat gruplarında sıçanlar 3'er alt gruba ayrılmıştır: Grup 1 sıçanlar intrasisternal carrageenan ve ilaç tedavisi almamışlardır. Grup 2 sıçanlara intrasisternal carrageenan uygulanmış, ancak ilaç tedavisi verilmemiştir. Grup 3 sıçanlara sumatriptan grubunda intrasisternal carrageenan uygulanmadan iki saat önce sumatriptan, topiramat grubunda ise intrasisternal carrageenan uygulanmasından önce dört hafta boyunca topiramat tedavisi uygulanmıştır. Sıçanlar intrasisternal carrageenan uygulanmasından bir saat sonra feda edilmiştir. Beyin dokuları alınarak eNOS, nNOS ve iNOS için immunuhistokimyasal inceleme yapılmış, sumatriptan ve topiramat gruplarındaki her 3 alt grup kendi içinde birbiri ile karşılaştırılmıştır. Bulgular: Sumatriptan ve topiramat gruplarında sıçanların beyin sapı ve frontal kortekslerinde ortalama eNOS, nNOS ve iNOS immunreaktivite yoğunluklarının grup 2'de grup 1'e göre anlamlı olarak arttığı saptanmıştır. Sumatriptan grubunda beyin sapında ortalama eNOS, nNOS ve iNOS, frontal kortekste nNOS immunoreaktivite yoğunluklarının grup 3'te grup 2'ye göre anlamlı olarak azaldığı gözlenmiştir. Topiramat grubunda ise beyin sapında nNOS ve iNOS, frontal kortekste eNOS ve nNOS ortalama immunoreaktivite yoğunluklarının grup 3'te grup 2'ye göre anlamlı olarak azaldığı saptanmıştır. Sonuç: Bulgular adolesan sıçanlarda intrasisternal carrageenan uygulanmasının NOS izoenzimlerinin immunreaktivitelerinde anlamlı artışa neden olduğunu ve bu artışın sumatriptan ve topiramat tedavileri ile önlenebildiğini göstermiştir. Bu bulgular çalışmamızın gelecekte NOS inhibitörlerini içeren yeni tedavi stratejilerinin geliştirilmesine katkıda bulunacağını düşündürmektedir. Anahtar sözcükler: migren, ergenlik, carrageenan, nitrik oksit, nitrik oksit sentetaz, sumatriptan, topiramat Objective: The aim of this study was to investigate the immunoreactivities for nitric oxide synthase enzymes in the brains of the adolescent rats using an experimental model of migraine and the effect of sumatriptan and topiramate pre-treatments on the immunoreactivities of the nitric oxide synthase enzymes. Material and Methods: Male adolescent Wistar rats (66-115g) were used. The stimulation of the trigeminovascular system was induced by injecting a pro-inflammatory molecule, carrageenan, into the cisterna magna of the anaesthetized rats. In the sumatriptan and topiramate groups, the rats were divided into 3 subgroups: Group 1 rats did not taken intracisternal carrageenan injection nor antimigraine pretreatment. Group 2 rats were taken intracisternal carrageenan injection, but did not taken antimigraine pretreatment. Group 3 rats were treated with sumatriptan succinate 2 hours before intracisternal carrageenan injection in sumatriptan group and with topiramate throughout four weeks before intracisternal carrageenan injection in topiramate group. Rats were sacrificed at one hour after intracisternal carrageenan injection. Brain tissues were removed and eNOS, nNOS and iNOS immunohistochemistry was performed. The mean values of the three subgroups were compared to each other both in sumatriptan and topiramate groups. Results: In sumatriptan and topiramate groups, the mean values of immunolabeling intensities for eNOS, nNOS and iNOS in brain stem and frontal cortex of the rats were significantly increased in group 2 compared to group 1. In sumatriptan group, the mean values of immunolabeling intensities for eNOS, nNOS and iNOS in brain stem and nNOS in frontal cortex of the rats were significantly decreased in group 3 compared to group 2. In topiramate group, the mean values of immunolabeling intensities for nNOS and iNOS in brain stem and eNOS and nNOS in frontal cortex of the rats were significantly decreased in group 3 compared to group 2 Conclusion: These findings suggest that, intracisternal injection of carrageenan caused a significant increase in the immunoreactivities of NOS enzymes in brains of adolescent rats. The increased NOS immunoreactivities could be antagonized by pre-treatment with sumatriptan and topiramate. These data may allow in the future to try new therapeutic strategies for NOS inhibitors in order to alleviate migraine headache. Key words: migraine, adolescence, carrageenan, nitric oxide, nitric oxide synthetase, sumatriptan, topiramat

Antenatal diagnosis of left atrial isomerism and heterotaxy syndrome in fetus with Meckel-Gruber syndrome

We aimed to present a fetus with Meckel-Gruber syndrome (MKS) who had left atrial isomerism, heterotaxy syndrome and complete heart block. A 26-year-old healthy female was referred to our clinic in the 23rd week of her preg- nancy. the fetus had multiple systemic anomalies including fetal heart. Fetal echocardiography revealed a horizontal liv- er, left-sided stomach and vena cava interruption with azygos continuation. There was also an apical trabecular ventricular septal defect, aorta and pulmonary artery arising from the left ventricle, pulmonary artery hypoplasia, pulmonary valve stenosis and left atrial isomerism. the heart rate was 46/min, consistent with third-degree atrioventricular block. Multiple anomalies including occipital encephalocele, bilateral poly- cystic kidneys, cleft lip, cleft palate, and polydactyly were also detected in the obstetric ultrasonography. the pregnan- cy was terminated in the 23rd gestational week based on the consensus of perinatology council. the autopsy examination confirmed the diagnosis of MKS, left atrial isomerism and heterotaxy syndrome. Although some cardiac defects have been reported previously in MKS fetuses, here we expand the cardiac spectrum of anomalies associated with MKS to include left atrial isomerism and heterotaxy syndrome.Bu yazıda, sol atriyum izomerizmi, heterotaksi sendromu ve tam kalp bloğu olan Meckel-Gruber sendrom’lu (MKS) bir fetüs sunuldu. Yirmi altı yaşındaki sağlıklı anne gebeliğinin 23. haftasında kliniğimize başvurdu. Fetüsün kalbi de içeren çok sayıda sistemik anomalisi vardı. Fötal ekokardiyografide horizontal karaciğer, sol yerleşimli mide ve azigos devamlılığı olan kesintili kaval veni vardı. Ayrıca apikal trabeküler ventriküler septal defekt, sol ventrikülden çıkan aorta ve pulmoner arter, pulmoner arter hipoplazisi, pulmoner kapak stenozu ve sol atriyum izomerizmi mevcuttu. Kalp hızı 46/dk idi ve üçüncü derece kalp bloğu ile uyumlu idi. Obstetrik ultrasonografisinde oksipital ensefalosel, iki taraflı polikistik böbrekler, yarık dudak, yarık damak ve polidaktiliyi içeren çok sayıda anomali saptandı. Perinatoloji konseyi kararı ile 23. gebelik haftasında gebelik sonlandırıldı. Otopsi incelemesi sol atriyum izomerizmi heterotaksi sendromu ve MKS tanısını doğruladı. Meckel-Gruber sendromlu fetüslerde daha önce birtakım kardiyak defektler bildirilmiş ise de, biz burada sol atriyum izomerizmi ve heterotaksi sendromunu da içeren MKS ile ilişkili kardiyak anomaliler spektrumunu genişletmiş olduk

Predictors of postnatal complications and congenital cardiac diseases in infants of mothers with pregestational and gestational diabetes

© 2014 by Turkish Pediatric Association.Aim: In this study, we aimed to evaluate the postnatal problems of infants of mothers with pregestational and gestational diabetes and the clinical properties of infants who were found to have congenital cardiac disease.Material and Methods: We retrospectively examined the records of 337 newborns who were followed up with a diagnosis of infant of diabetic mother between January 2010 and January 2012 in our Neonatology Unit. The demographic data of the diabetic mothers and their babies, the postnatal problems of the babies of diabetic mothers and congenital heart diseases found on transthoracic echocardiography were examined.Results: The patients were classified as group A, B and C in accordance with the recommendations of The American Congress of Obstetricians and Gynecologists (ACOG) according to the type of diabetes. The most common postnatal problems included hyperbilirubinemia, respiratory distress, hypoglycemia and hypocalcemia. The rate of congenital heart disease was found be 17.3% in group A, 50% in group B and 9% in group C. No correlation was found between congenital heart disease and gender, multiple pregnancy, diabetes type, diet treatment, use of oral antidiabetic drugs and drug usage. A positive significant correlation was found between congenital heart disease and genetic disease, murmur, cyanosis and presence of gestational hypertension. It was shown that use of insulin, genetic disease and presence of gestational diabetes increased the risk of congenital heart disease.Conclusions: In our study, the overall incidence of congenital heart disease was found to be 24% in infants of diabetic mothers. It should be kept in mind that it is important to investigate the infants of mothers with pregestational and gestational diabetes in terms of the risk of congenital heart disease

P Wave Dispersion in Children with Breath-holding Spells

Objective: A breath-holding spell (BHS) is a clinical feature frequently seen in infancy and early childhood and generally bringing children to pediatric cardiology outpatient clinics with the suspicion of cardiac disease. In this study, P wave dispersion (PWD), which is a marker of regional differences in atrial depolarization in electrocardiography and has been demonstrated to be beneficial in defining the risk of supraventricular tachycardia in various patient groups, was studied in children who presented with breath-holding spells. Materials and Methods: Forty-seven patients with breath-holding spells and 36 healthy children as a control group were included in this study. We performed electrocardiography and transthoracic echocardiography on patients and controls. PWD, which is defined as the difference between maximum and minimum p wave duration, was also calculated. Statistical analysis in the study was performed using SPSS version 22.0 and p<0.05 was accepted as significant. Results: Our study indicated that there were no statistically significant differences between the patients and controls in minimum, maximum p wave duration and PWD. Conclusion: Our findings suggest that atrial conduction is probably unaffected in children with breath-holding spells

Fallot tetralojili olgularda tam düzeltme ameliyatı öncesi pulmoner arter gelişim indekslerini etkileyen faktörler: 100 olguda retrospektif gözlemsel bir değerlendirme

Objective: the present study aimed to evaluate the association between the equations indicating the pulmonary artery development prior to total correction surgery in patients diagnosed with Tetralogy of Fallot, such as McGoon ratio, Nakata index and pulmonary artery Z score and the course of aortic arch, presence/absence of accompanying patent foramen ovale (PFO) and the patient's gender.Methods: the study included 100 cases who had diagnostic angiography before the total correction surgery with the diagnosis of Tetralogy of Fallot between January 2003 and January 2011. the study retrospectively evaluated using estimated angiographic parametres as left ventricular end-diastolic diameter (LVEDd), the presence of PFO and the course of aortic arch as obtained by echocardiography, and the McGoon ratio, Nakata index and pulmonary artery Z scores.Results: of the patients, 72% were male and 28% were female. the median age was 21 months (min: 4,max: 228 mos) and the birth weight was 2960±550 gram. Left aortic arch dominancy (77%) was observed. LVEDd was below normal in 18% of the patients. PFO, coronary abnormalities, MAPCA, left superior vena were seen in 23, 4, 3, and 6% of the patients respectively. Pulmonary artery Z scores were found lower in patients with PFO compared to those without PFO (p;lt;0.05). the course of aortic arch and gender were not different among the patients.Conclusion: the presence of PFO may affect pulmonary artery Z scores in cases with Tetralogy of Fallot. on the other hand, we believe that the course of the aortic arch and gender of the patients are not among factors affecting pulmonary artery development before total correction surgery.Amaç: Fallot tetralojisi tanısı konulan hastaların tam düzeltme ameliyatı öncesi pulmoner arter gelişimini gösteren McGoon oranı, Nakata indeksi, pulmoner arter Z skoru ile arkus aortanın seyri, patent foramen ovalenin (PFO) varlığı veya yokluğu ve hastanın cinsiyeti arasındaki ilişkinin değerlendirilmesi amaçlandı. Yöntemler: Ocak 2003 ile Ocak 2011 tarihleri arasında Fallot tetralojisi tanısı ile tam düzeltme ameliyatı öncesi diyagnostik anjiografi yapılan, öncesinde şant cerrahisi geçirmeyen 100 olgu çalışmaya alındı. Retrospektif olarak ekokardiyografi ile elde edilen sol ventrikül diyastol sonu çapı (LVEDd), PFO ve arkus aortanın seyri, anjiografik olarak ölçülen McGoon oranı, Nakata indeksi, pulmoner arter Z skoru değerlendirildi. Bulgular: Olguların %72'si erkek, %28'i kızdı. Median yaş 21 ay (min: 4 ay max: 228 ay) olan hastaların doğum ağırlıkları ise 2960±550 gramdı. Hastalarda sol arkus aorta hâkimiyeti (%77) izlendi. LVEDd %18 hastada normalin altındaydı. PFO %23, koroner anomali %4, majör aorto pulmoner kollateral arterler (MAPCA) %3, sol superior vena kava %6 oranındaydı. PFO'su olan hastalarda pulmoner arter Z skoru olmayanlara göre daha düşük bulundu (p0.05). Arkus aorta seyrinin ve cinsiyetin ise hastalar arasında fark oluşturmadığı izlendi.Sonuç: Fallot tetralojili hastalarda PFO'nun varlığı pulmoner arter Z skorunu etkileyebilir. Bunun yanı sıra arkus aorta seyrinin ve cinsiyetin tam düzeltme ameliyatı öncesi pulmoner arter gelişimini etkileyen faktörler olmadığını düşünmekteyiz