Acute Type A Aortic Dissection in a Patient with Situs Inversus Totalis

We describe the occurrence of acute type A aortic dissection in a patient with situs inversus totalis. A 37-year-old man presented to the emergency department with acute chest pain. Initial chest X-ray findings showed a right-sided heart and a left-sided liver. Contrast-enhanced computed tomography revealed a Stanford type A acute aortic dissection, aortic root dilatation, and situs inversus totalis. All of the thoracic structures were mirror-image reversed and an abnormal coronary artery was observed. The Bentall operation was performed. This report demonstrates that computed tomography and echocardiography were useful for understanding the anatomy and the presence or absence of concurrent anomalies in a patient with situs inversus totalis. The patient’s postoperative course was uneventful.

Array Comparative Genomic Hybridization as the First-line Investigation for Neonates with Congenital Heart Disease: Experience in a Single Tertiary Center

BACKGROUND AND OBJECTIVES@#The purpose of the present study was to investigate the advantages and disadvantages of verifying genetic abnormalities using array comparative genomic hybridization (a-CGH) immediately after diagnosis of congenital heart disease (CHD).@*METHODS@#Among neonates under the age of 28 days who underwent echocardiography from January 1, 2014 to April 30, 2016, neonates whose chromosomal and genomic abnormalities were tested using a-CGH in cases of an abnormal finding on echocardiography were enrolled.@*RESULTS@#Of the 166 patients diagnosed with CHD, 81 underwent a-CGH and 11 patients (11/81, 13.5%) had abnormal findings on a-CGH. 22q11.2 deletion syndrome was the most common (4/11, 36.4%). On the first a-CGH, 4 patients were negative (4/81, 5%). Three of them were finally diagnosed with Williams syndrome using fluorescent in situ hybridization (FISH), 1 patient was diagnosed with Noonan syndrome through exome sequencing. All of them exhibited diffuse pulmonary artery branch hypoplasia, as well as increased velocity of blood flow, on repeated echocardiography. Five patients started rehabilitation therapy at mean 6 months old age in outpatient clinics and epilepsy was diagnosed in 2 patients. Parents of 2 patients (22q11.2 deletion syndrome and Patau syndrome) refused treatment due to the anticipated prognosis.@*CONCLUSIONS@#Screening tests for genetic abnormalities using a-CGH in neonates with CHD has the advantage of early diagnosis of genetic abnormality during the neonatal period in which there is no obvious symptom of genetic abnormality. However, there are disadvantages that some genetic abnormalities cannot be identified on a-CGH.

Array Comparative Genomic Hybridization as the First-line Investigation for Neonates with Congenital Heart Disease: Experience in a Single Tertiary Center

BACKGROUND AND OBJECTIVES: The purpose of the present study was to investigate the advantages and disadvantages of verifying genetic abnormalities using array comparative genomic hybridization (a-CGH) immediately after diagnosis of congenital heart disease (CHD). METHODS: Among neonates under the age of 28 days who underwent echocardiography from January 1, 2014 to April 30, 2016, neonates whose chromosomal and genomic abnormalities were tested using a-CGH in cases of an abnormal finding on echocardiography were enrolled. RESULTS: Of the 166 patients diagnosed with CHD, 81 underwent a-CGH and 11 patients (11/81, 13.5%) had abnormal findings on a-CGH. 22q11.2 deletion syndrome was the most common (4/11, 36.4%). On the first a-CGH, 4 patients were negative (4/81, 5%). Three of them were finally diagnosed with Williams syndrome using fluorescent in situ hybridization (FISH), 1 patient was diagnosed with Noonan syndrome through exome sequencing. All of them exhibited diffuse pulmonary artery branch hypoplasia, as well as increased velocity of blood flow, on repeated echocardiography. Five patients started rehabilitation therapy at mean 6 months old age in outpatient clinics and epilepsy was diagnosed in 2 patients. Parents of 2 patients (22q11.2 deletion syndrome and Patau syndrome) refused treatment due to the anticipated prognosis. CONCLUSIONS: Screening tests for genetic abnormalities using a-CGH in neonates with CHD has the advantage of early diagnosis of genetic abnormality during the neonatal period in which there is no obvious symptom of genetic abnormality. However, there are disadvantages that some genetic abnormalities cannot be identified on a-CGH.

Influence of Radiologically Evident Residual Intimal Tear on Expansion of Descending Aorta Following Surgery for Acute Type I Aortic Dissection

BACKGROUND: Although a residual intimal tear may contribute to the dilatation of the descending aorta following surgical repair of acute type I aortic dissection (AD), its causal relationship has not been elucidated by clinical data due to the limited resolution of imaging modalities. METHODS: This study enrolled 41 patients (age, 55.2+/-11.9 years) who were evaluated with dual-source computed tomography (CT) imaging of the whole aorta in the setting of the surgical repair of acute type I AD. Logistic regression models were used to determine the predictors of a composite of the aortic aneurysm formation (diameter >55 mm) and rapid aortic expansion (>5 mm/yr). RESULTS: On initial CT, a distal re-entry tear was identified in 9 patients. Two patients failed to achieve proximal tear exclusion by the surgery. Serial follow-up CT evaluations (median, 24.6 months; range, 6.0 to 67.2 months) revealed that 14 patients showed rapid expansion of the descending aorta or aortic aneurysm formation. A multivariate analysis revealed that the residual intimal tear (odds ratio [OR], 4.31; 95% confidence interval [CI], 1.02 to 19.31) and the patent false lumen in the early postoperative setting (OR, 4.64; 95% CI, 0.99 to 43.61) were predictive of the composite endpoint. CONCLUSION: The presence of a residual intimal tear following surgery for acute type I AD adversely influenced the expansion of the descending aorta.

Primary Ewing's Sarcoma of the Lung

Most cases of Ewing's sarcoma are reported in the bone, and extraosseous Ewing's sarcoma is an extremely rare disease. Here, we report a rare case of primary pulmonary Ewing's sarcoma in a patient with hemoptysis. The patient underwent right upper lung lobe lobectomy with adjuvant chemotherapy and radiation therapy and has been free of recurrent disease for 4 years.

Schwannoma of the Heart

We present a case of a 55-year-old woman who complained of chest pain at rest. A mass was detected adjacent to her left atrium. The mass was completely excised, and a pathologic examination revealed it to be a schwannoma. Schwannomas are tumors that originate in the nerve sheath and are rarely detected in the heart. Here, we describe a rare case of primary schwannoma of the left atrium.

Neuronal Autophagy and Neurodevelopmental Disorders

Neurodevelopmental disorders include a wide range of diseases such as autism spectrum disorders and mental retardation. Mutations in several genes that regulate neural development and synapse function have been identified in neurodevelopmental disorders. Interestingly, some affected genes and pathways in these diseases are associated with the autophagy pathway. Autophagy is a complex, bulky degradative process that involves the sequestration of cellular proteins, RNA, lipids, and cellular organelles into lysosomes. Despite recent progress in elucidating the genetics and molecular pathogenesis of these disorders, little is known about the pathogenic mechanisms and autophagy-related pathways involved in common neurodevelopmental disorders. Therefore, in this review, we focus on the current understanding of neuronal autophagy as well as recent findings on genetics and the roles of autophagy pathway in common neurodevelopmental disorders.

A Case of Ileoileocolic Type Intussusception Presented with Hematemesis Due to Meckel's Diverticulum / 대한소아소화기영양학회지

Intussusception is the most common cause of intestinal obstruction in early childhood and characterized by periodic colicky abdominal pain or irritability, vomiting, current jelly stool, and sausage-like abdominal mass. Meckel's diverticulum is common intestinal anomaly presenting with painless rectal bleeding during first 2 year of age. It is recognized as a common leading point of intussusception in childhood. Hematemesis is the rare clinical manifestation of both intussusception and Meckel's diverticulum. A 7-year-old girl presented with hematemesis was diagnosed as having intussusception by abdominal ultrasonography. Meckel's diverticulum was the leading point of intussusception in this case.