Çocukluk Çağı Supravetriküler Taşikardilerinde Holter, "Event Recorder" ve Transözofageal Elektrofizyolojik Çalışma Yöntemlerinin Karşılaştırılması

Supraventricular tachycardia (SVT) is a common rhythm problem in childhood and usually temporary even without ECG findings. Patients with a preliminary diagnosis of SVT is investigated in two groups. Group 1 (40 patients) was evaluated with Holter, event recorder and transesophageal electrophysiologic study (TEEPS) and group 2 (95 patients) was evaluated with Holter and TEEPS. All patients in group 1 underwent Holter monitoring. TEEPS was applied to half of patients after event recorder. Event recorder was applied to rest of the patients after TEEPS. Results of the first half of patients who underwent event recorder and then TEEPS showed 4 supraventricular extrasystoles (SVE) and 2 ventricular extrasystoles (VES) on Holter monitoring. Event recorder showed 13 arrhythmia and/or tachycardia (1 SVT, 1 atrial tachycardia(AT), 1 Wolff-Parkinson-White(WPW), 1 ventricular tachycardia(VT), 1 SVE and 8 sinus tachycardia (ST)). Of the 8 patients who were found to have sinüs tachycardia from results of event recorder, two of them had SVE and one of them had VES on Holter monitoring. Event recorder result of one patient was VT instead of VES which showed up with Holter monitoring. Holter monitoring and event recorder result of one patient was the same (SVE). Two of eight patients TEEPS results were atrioventricular nodal reentrant tachycardia (AVNRT) which were ST on event recorder. Event recorder results were normal in 7 patients. In these patients one of them had AVNRT and another one had AVRT on TEEPS. Event recorder and TEEPS results were the same in two patients (VT,WPW). TEEPS results were normal in 3 patients which had SVT, AT and SVE on event recorder. Six patients were diagnosed SVT with TEEPS and successfully ablated. Results of second half of patients who underwent TEEPS and then event recorder showed 2 SVE and 1 VES on Holter monitoring. Only one of 20 patients had AVNRT with TEEPS. Tachycardia wasn't induced in the rest of 19 patients. TEEPS results were normal in 3 patients which were abnormal (arrhythmia) on Holter monitoring. Of 19 patients who were found to have normal TEEPS, 10 of them had ST and 1 of them had SVT on event recorder. Two patients were diagnosed SVT with event recorder and TEEPS, and were successfully ablated. In the second group, Holter monitoring results were normal in 52 patients and displayed arrhythmia in 43 (18 SVT, 10 SVE, 7 WPW, 6 VES, 2 VES+SVE) patients. SVT was induced with TEEPS in all 95 patients. Sixty of 95 patients who were diagnosed SVT were applied intracardiac electrophysiology study (EPS) then ablation. In our study, we observed TEEPS is more valuable than Holter and event recorder in the diagnosis of SVT. Event recorder may be applied to patients before invasive prosedures when TEEPS results are normal in case of continued symptoms of patients.Supraventriküler taşikardiler (SVT) çocukluk çağında sık görülen ritim bozukluğudur ve genellikle kısa sürelidir, EKG kaydı alınamadan sonlanabilir. Çalışmamızda Hacettepe Üniversitesi Çocuk Kardiyoloji Bilim Dalı’nda SVT ön tanısı ile Holter, “event recorder” ve transözofageal elektrofizyolojik çalışma (TEEPS) uygulanan 40 hastanın (1.Grup) ve Holter ve TEEPS uygulanan 95 hastanın (2.Grup) bulguları değerlendirildi. 1. Grupta, Holter sonrası hastaların 20’sine öncelikle “event recorder”, ardından TEEPS, 20’sine ise öncelikle TEEPS ardından “event recorder” uygulandı. Holter sonrasında öncelikle ”event recorder”, ardından TEEPS uygulanan 20 hastanın sonuçları incelendiğinde; Holter kayıtlarında 4 supraventriküler ekstrasistol (SVE) ve 2 ventriküler ekstrasistol (VES) saptanan 20 hastanın “event recorder” sonuçlarında; 13 hastada aritmi ve /veya taşikardi ( 1 SVT, 1 atriyal taşikardi /AT, 1 Wolff Parkinson White /WPW, 1 ventriküler taşikardi /VT, 1 SVE, 8 sinüs taşikardisi /ST) gözlendi. “Event recorder” ile Holter kayıtları karşılaştırıldığında; event kayıtlarında ST saptanan 8 hastanın 2’sinde SVE, 1’inde VES, VT saptanan 1 hastada VES, SVE saptanan 1 hastada yine SVE vardı. “Event recorder” ile TEEPS sonuçları karşılaştırıldığında; event kayıtlarında sinüs taşikardisi saptanan 8 hastanın 2’sinde AVNRT (atriyoventriküler nodal reentran taşikardi), event kayıtları normal olan 7 hastanın 1’inde AVNRT, 1’inde AVRT (atriyoventriküler reentran taşikardi), event ile WPW tanısı alan 1’inde yine WPW /AVRT, VT tanısı alan 1’inde yine VT saptandı. “Event recorder” ile SVT, AT ve SVE saptanan hastaların TEEPS sonuçları normaldi. TEEPS sonuçlarında SVT saptanan 6 hastaya ablasyon uygulandı. Holter sonrasında öncelikle TEEPS ardından “event recorder” uygulanan 20 hastanın sonuçlarında, Holter kayıtlarında 2 SVE ve 1 VES saptanan 20 hastanın TEEPS kayıtlarında; 1 hastada AVNRT saptandı, 19 hastada taşikardi uyarılamadı. Holter ve TEEPS kayıtları karşılaştırıldığında; TEEPS ile AVNRT tanısı alan 1 hastanın Holter kaydı normal, TEEPS sonuçları normal olan 3 hastanın Holter kayıtlarının 2’sinde SVE, 1’inde VES vardı. TEEPS ve “event recorder” kayıtları karşılaştırıldığında; TEEPS ile AVNRT saptanan 1 hastada “event recorder” ile SVT, TEEPS sonuçları normal olan 19 hastanın “event recorder” ile 1’inde SVT, 10’unda sinüs taşikardisi (ST) saptandı. TEEPS ve “event recorder” sonuçlarında SVT saptanan 2 hastaya ablasyon uygulandı. 2. Grupta, Holter sonuçları normal olan 52 hastada ve Holter sonuçlarında aritmi saptanan 43 hastada (18 SVT, 10 SVE, 7 WPW, 6 VES, 2 VES+SVE) TEEPS ile SVT uyarıldı. SVT tanısı alan 95 hastanın 60’ına intrakardiyak elektrofizyolojik çalışma (IEPS) ve sonrasında ablasyon uygulandı. Çalışmamızda TEEPS sonuçlarının Holter ve “event recorder” sonuçları ile karşılaştırıldığında SVT tanısında TEEPS çalışmasının daha değerli olduğu saptanmıştır. TEEPS sonuçları normal olan hastaların semptomlarının devam etmesi durumunda invaziv yöntemlerden önce noninvaziv yöntemlerden “event recorder” uygulanabileceği kanısındayız

Predictable and Unusual Adverse Effects of Immunosuppression in Pediatric Liver Transplant Patients.

Our aim was to determine potentially adverse effects of immunosuppressive protocols after liver transplantation in children

The Frequency of Lysosomal Acid Lipase Deficiency in Children With Unexplained Liver Disease

Objectives: Evidence suggests that lysosomal acid lipase deficiency (LAL-D) is often underdiagnosed because symptoms may be nonspecific. We aimed to investigate the prevalence of LAL-D in children with unexplained liver disease and to identify demographic and clinical features with a prospective, multicenter, cross-sectional study

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

Purpose: Pathogenic variants in neuroblastoma-amplified sequence (NBAS) cause an autosomal recessive disorder with a wide range of symptoms affecting liver, skeletal system, and brain, among others. There is a continuously growing number of patients but a lack of systematic and quantitative analysis. ----- Methods: Individuals with biallelic variants in NBAS were recruited within an international, multicenter study, including novel and previously published patients. Clinical variables were analyzed with log-linear models and visualized by mosaic plots; facial profiles were investigated via DeepGestalt. The structure of the NBAS protein was predicted using computational methods. ----- Results: One hundred ten individuals from 97 families with biallelic pathogenic NBAS variants were identified, including 26 novel patients with 19 previously unreported variants, giving a total number of 86 variants. Protein modeling redefined the β-propeller domain of NBAS. Based on the localization of missense variants and in-frame deletions, three clinical subgroups arise that differ significantly regarding main clinical features and are directly related to the affected region of the NBAS protein: β-propeller (combined phenotype), Sec39 (infantile liver failure syndrome type 2/ILFS2), and C-terminal (short stature, optic atrophy, and Pelger-Huët anomaly/SOPH). ----- Conclusion: We define clinical subgroups of NBAS-associated disease that can guide patient management and point to domain-specific functions of NBAS