Evaluation of an amplicon-based custom gene panel for the diagnosis of hereditary tumors.

Genetic testing based on next-generation sequencing (NGS) analysis has recently been used to diagnose hereditary diseases. In this study, we explored the usefulness of our custom amplicon panel that targeted 23 genes related to hereditary tumors given in the American College of Medical Genetics and Genomics recommendations. We applied our custom NGS panel to samples from 12 patients previously diagnosed by Sanger sequencing as having the diseases or diagnosed clinically by meeting the diagnostic criteria in this study. Our gene panel not only successfully identified all variants detected by Sanger sequencing but also identified previously unrecognized variants that resulted in confirmation of the disease, or even in the revision of the diagnosis. For instance, a patient identified with an SDHD gene mutation actually had von Hippel-Lindau (VHL) syndrome, as determined by the presence of a pathogenic VHL gene variant. We also identified false-positive results that were generated by amplification of genome regions that are not intended to be investigated. In conclusion, NGS-based amplicon sequencing is a highly effective method to detect germline variants, as long as they are also carefully reviewed by manual inspection.

Tricuspid regurgitation due to blunt chest trauma. Report of a case and review of the literature.

A 25-year-old female developed high-grade atrioventricular block and markedly elevated central venous pressure after sustaining a crushing injury to the chest while driving a car. An echocardiographic examination with color Doppler revealed severe tricuspid regurgitation due to a torn papillary muscle. An extensive review of the literature showed the following: 1) correct diagnosis is often delayed because of coexisting multisystem involvement and the subtleness of abnormal physical signs, 2) identification of abnormally elevated right atrial pressure with a prominent "v" wave, and characteristic electrocardiogram appeared to be the key to early diagnosis, and 3) the final diagnosis may be confirmed by echocardiography with Doppler and/or cardiac catheterization. The role of echocardiographic examination with color Doppler technique deserves special emphasis because the final diagnosis can be easily reached during the acute phase at the bedside noninvasively.

A case of effusive constrictive pericarditis caused by Streptococcus milleri.

A 55-year-old male presented with hypotension and marked elevation of jugular venous pressure suggesting impaired ventricular filling. Echocardiography demonstrated a moderate amount of pericardial effusion and dense and shaggy fibrinous strands attached to the pericardia. Pericardiocentesis was performed under the diagnosis of cardiac tamponade, but normal ventricular filling could not be restored even after pericardiocentesis. Hemodynamic evaluation after pericardiocentesis revealed persisting low cardiac output, elevation and equilibration of right atrial, right ventricular end-diastolic and pulmonary capillary wedge pressures, and deep y descent. Later, surgical removal of the thickened pericardium was required. This case appeared to be typical effusive-constrictive pericarditis. Regarding etiology, a rare organism, Streptococcus milleri, proved to be responsible, while the case history and clinical situation were suggestive of a tuberculous or tumorous origin.