Comparison of the Metabolic Profiles in the Plasma and Urine Samples Between Autistic and Typically Developing Boys: A Preliminary Study.

Background: Autism spectrum disorder (ASD) is defined as a pervasive developmental disorder which is caused by genetic and environmental risk factors. Besides the core behavioral symptoms, accumulated results indicate children with ASD also share some metabolic abnormalities. Objectives: To analyze the comprehensive metabolic profiles in both of the first-morning urine and plasma samples collected from the same cohort of autistic boys. Methods: In this study, 30 autistic boys and 30 tightly matched healthy control (HC) boys (age range: 2.4~6.7 years) were recruited. First-morning urine and plasma samples were collected and the liquid chromatography-mass spectrometry (LC-MS) was applied to obtain the untargeted metabolic profiles. The acquired data were processed by multivariate analysis and the screened metabolites were grouped by metabolic pathway. Results: Different discriminating metabolites were found in plasma and urine samples. Notably, taurine and catechol levels were decreased in urine but increased in plasma in the same cohort of ASD children. Enriched pathway analysis revealed that perturbations in taurine and hypotaurine metabolism, phenylalanine metabolism, and arginine and proline metabolism could be found in both of the plasma and urine samples. Conclusion: These preliminary results suggest that a series of common metabolic perturbations exist in children with ASD, and confirmed the importance to have a comprehensive analysis of the metabolites in different biological samples to reveal the full picture of the complex metabolic patterns associated with ASD. Further targeted analyses are needed to validate these results in a larger cohort.

[Stented elephant trunk and femoral artery bypass grafting surgery for extended aneurysmal dilation of Stanford A aortic dissection or aortic aneurysm].

OBJECTIVES: To summarize the clinical experience of stented elephant trunk with femoral artery bypass grafting procedure to treat severe aneurysmal dilation of Stanford A aortic dissection or aortic aneurysm. To study the surgical indication and surgical strategy of chronic Stanford A aortic dissection and aneurysmal dilation, also to summarize the early follow-up results. METHODS: From February 2006 to November 2011, 19 patients with Stanford A aortic dissection or aortic aneurysm with extented aneurysmal dilation (megaaorta) received stented elephant trunk with femoral artery bypass grafting procedure. There were 3 acute cases and 16 chronic cases with 14 male patients and 5 female patients. Average age of this group was (42 ± 8) years and average body weight was (70 ± 15) kg. One patient was aortic aneurysm and all the other were Stanford A aortic dissection. Eight patients were Mafan's syndrome. Ascending aorta replacement or Bentall's operation was done first and total arch replacement and stented elephant trunk operation was done under deep hypothermia and circulatory arrest. After the patient was weaned from cardiopulmonary bypass, bypass from ascending aorta to femoral artery was done subcutaneously using the 10 mm graft in the same femoral incision. RESULTS: There was no operative mortality. One patient had chylothorax which recovered with medical treatment and one patient got paraplegia after surgery. The cardiopulmonary bypass time was (176 ± 42) minutes, aortic cross clamping time was (88 ± 25) minutes and deep hypothermia and low flow rate time was (23 ± 8) minutes. The blood pressure of the lower extremities were normal after operation. Follow-up time was (22 ± 19) months. All patients survived. False lumen closure rate at the stent level was 100%. CT scan at 3 to 6 months after operation showed no obvious dilation of the descending aorta. Two patient successfully received second stage operation of total (subtotal) thoracoabdominal aorta replacement. CONCLUSIONS: Stented elephant trunk and aorta to femoral artery bypass is a safe procedure to treat aortic dissection or aortic aneurysm with extended aneurysmal dilation. This procedure can effectively increase the blood supply of the lower extremities due to small true lumen of the descending aorta, and may decrease the speed of dilation of the false lumen. It is also a practical procedure to lay the foundation for the second stage operation of normothemia thoracoabdominal aorta replacement.

[Diagnostic value of echocardiography for cardiac tumors in infancy and childhood].

OBJECTIVE: The present study was designed to evaluate the clinical manifestations, surgical findings, pathologic types and treatment of cardiac tumor and to analyze the echocardiographic characteristics of the cases. METHODS: Records of 19 patients with cardiac tumors confirmed by operations and pathology at Fuwai Cardiovascular Hospital in Beijing, China between Jan, 1983 and Dec, 2003 were reviewed. Clinical and echocardiographic data of all patients were analyzed. RESULTS: The median age of patients was 7 +/- 5 years, ranging from 5 months to 14 years. There were 8 male and 11 female cases. The surgical findings revealed that 57.9% (11 cases) of cardiac tumors were found in left heart, 36.8% (7 cases) in right heart, 5.3% (1 case) in two ventricles. The pathological study revealed that 17 cases (89.5%) were diagnosed as primary cardiac benign tumors including myxoma in 10 cases (52.6%), rhabdomyoma in 4 cases (21.1%), fibroma in 2 cases (10.5%) and lipoma in 1 case (5.3%). Two cases were diagnosed (10.5%) as cardiac malignant tumors including a primary cardiac rhabdomyosarcoma and a metastatic epithelioid sarcoma. By using echocardiography 11 cases were diagnosed as myxomas and rhabdomyoma (11/19, 57.9%), 8 cases were diagnosed as space occupying lesions of the heart or myxoma (8/19, 42.1%). CONCLUSIONS: Myxomas are the most common heart tumors seen in infancy and childhood, followed in frequency by rhabdomyomas, fibromas and lipomas. Surgery is recommended for patients with refractory and severe clinical symptoms.