Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report

<p>Abstract</p> <p>Background</p> <p>Because of low copy repeats (LCRs) and common inversion polymorphisms, the human chromosome 8p is prone to a number of recurrent rearrangements. Each of these rearrangements is associated with several phenotypic features. We report on a patient with various clinical malformations and developmental delay in connection with an inverted duplication event, involving chromosome 8p.</p> <p>Methods</p> <p>Chromosome analysis, multicolor banding analysis (MCB), extensive fluorescence in situ hybridization (FISH) analysis and microsatellite analysis were performed.</p> <p>Results</p> <p>The karyotype was characterized in detail by multicolor banding (MCB), subtelomeric and centromere-near probes as 46,XY,dup(8)(pter->p23.3::p12->p23.3::p23.3->qter). Additionally, microsatellite analysis revealed the paternal origin of the duplication and gave hints for a mitotic recombination involving about 6 MB in 8p23.3.</p> <p>Conclusion</p> <p>A comprehensive analysis of the derivative chromosome 8 suggested a previously unreported mechanism of formation, which included an early mitotic aberration leading to maternal isodisomy, followed by an inverted duplication of the 8p12p23.3 region.</p

Eisenmenger Syndrome: Identifying The Clues For Arrhythmia

Objective: The aim of this case-controlled, cross-sectional study is to investigate the tendency towards arrhythmia using noninvasive arrhythmia markers (QT dispersion and heart rate variability) in children with Eisenmenger syndrome. Methods: We studied 23 patients, whose pulmonary-to-systemic resistance ratio was calculated to be greater than 0.75, and who were diagnosed as Eisenmenger syndrome between 1990 and 2001. Twenty healthy children were studied as the control group. Electrocardiographic recordings with calculation of (IT dispersion, Holter monitoring, echocardiographic studies and heart rate variability (HRV) analysis were performed in both groups. Catheterization records were analyzed in all the patients. Results: (IT and QTc dispersion were higher (p=0.007 and p=0.006, respectively) and PR interval was longer (p=0.009) in the patients with Eisenmenger syndrome, than those in the control group. In addition, low frequency component, high frequency component, very low frequency component, and total power, obtained from HRV analysis were significantly lower in the patients with Eisenmenger syndrome (p=0.001, p=0.006, p=0.009 and p=0.011, respectively). Evaluation of Holter recordings revealed pathologic findings in 21.7% of the patients with Eisenmenger syndrome. Pulmonary-to-systemic resistance ratio of the patients with pathologic Holter findings were higher than in the patients with normal Holter recordings (p=0.011). It was also shown that there was a positive correlation between OT dispersion and pulmonary-to-systemic resistance ratio (p=0.048, r=0.416) and between (IT dispersion and PR interval (p=0.009, r=0.532) in the patients with Eisenmenger syndrome. Conclusion: Dispersion of repolarization, being associated with high pulmonary-to-systemic resistance ratio, is increased and autonomic modulation of heart rate is impaired in patients with Eisenmenger syndrome. These findings suggest that arrhythmia risk for patients with Eisenmenger syndrome is higher than in normal controls.Wo

Evaluation Of Tissue Doppler Echocardiographic Imaging Findings In Children With Pulmonary Hypertension

Tissue Doppler Imaging has become an important prognostic marker that can be used in follow-up and determination of the prognosis in pulmonary hypertension patients. We compared the Tissue Doppler imaging parameters of 34 patients with pulmonary hypertension and 43 healthy controls. In addition, Brain-Natriuretic Peptide levels, pulmonary artery systolic pressures measured with echocardiography, 6-minute walking tests and New York Heart Association functional classification were compared. Among patients with Eisenmenger syndrome and idiopathic pulmonary hypertension, Tissue Doppler imaging parameters were mostly similar. In patients with New York Heart Association functional class 3, mitral septal annulus E/Ea (p=0.050) and mitral lateral annulus myocardial performance index (p=0.009) were higher than class 2 patients. In patients with higher Brain Natriuretic Peptide level, mitral lateral annulus and tricuspid septal annulus Ea/Aa values were lower (p=0.046 and <0.001 respectively); tricuspid septal annulus E/Ea and interventricular septum myocardial performance index values were higher than in patients with normal Brain-Natriuretic Peptide level (p=0.006). In conclusion tissue Doppler imaging findings were significantly impaired in children with pulmonary hypertension compared to the control group. Findings were similar in patients with idiopathic pulmonary hypertension and Eisenmenger syndrome. Mitral lateral annulus myocardial performance index value may have a prognostic importance due its significant association with poor functional class. Due to the significant associations between mitral lateral annulus, tricuspid septal annulus Ea/Aa, tricuspid septal annulus Ea and E/Aa, interventricular septum-myocardial performance index values and brain natriuretic peptide levels, these parameters may be used in evaluating response to therapy.WoSScopu

Evaluation Of Diagnostic Accuracy Of Portable Echocardiography In Newborns

Objective: Congenital heart disease is the most common life-threatening anomaly in the neonatal period. Screening for this disease with portable echocardiography is crucial to diagnose in the early period, and it has benefits in saving time and decreasing the cost. Portable echocardiography has advantages of rapid access and lower costs and also has advantage that in intensive care units there is no necessity to move patients. With these advantages, it is aimed to compare the sensitivity of portable echocardiography comparing to standard echocardiography. Methods: In this study, the portable echocardiography results of the sequentially enrolled newborns hospitalized in the neonatal departments are revised. Portable echocardiography results were verified with standard echocardiography in 83(43%) female and 111 (57%) male patients. This study was planned as a study on diagnostic accuracy. Results: The gestational periods were between 24 weeks, 3 days and 42 weeks (average 35 weeks 4 weeks 3 days). Birth weights were between 500 and 4850 grams (average 2370 936 grams). The reason that portable echocardiography had been studied was murmur in 113(58.2%) patients, cyanosis in 47(24.2%) patients, prenatal anomaly in 12(6.2%) patients, bradycardia in 12 (6.2%) patients, maternal diabetes in 6(3.1%) patients and respiratory distress in 4(2.1%) patients. Out of 194 patients 8(4.1%) had differences between standard and portable echocardiography. Compared to standard echocardiography, portable echocardiography has the sensitivity values ranged between 99.3-100% and the specificity values ranged between 90.9-100% in diagnosis of specific CHD anomalies. Positive predictive value was between 50-100% whereas negative predictive value was between 97.9-100%. The agreement between results of two tests was determined as very good - kappa 0.886, 95%Cl -0.821-0.951, p<0.0001. Conclusion: It is demonstrated that portable echocardiography has a high sensitivity especially diagnosing major heart defects, and with advantages of rapid access and lower costs it is estimated that increasing usage of portable echocardiography could be beneficial. (Anadolu Kardiyol Derg 2011; 11: 627-32)WoSScopusTr-Dizi

Endovascular stents for treatment of coarctation of the aorta

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