A Case Report after Two Years of Total Debranching and Endovascular Repair for Kommerell Diverticulum / 日本心臓血管外科学会雑誌

A 78-year-old woman with abnormal shadows on computed tomography (CT) was given a diagnosis of right-sided aortic arch and Kommerell diverticulum (KD), accompanied by aberrant left subclavian artery. Although no symptoms were observed, the maximum diameter of the aneurysm was 63 mm, and surgical intervention was chosen because of the possibility of rupture. At first, a 4-branched blood vessel prosthesis with a side branch was anastomosed to the ascending aorta. Next, after reconstructing the cervical branches, a Conformable GORE® TAG® (W.L. Gore and Associates, 34 mm×200 mm) was inserted from the side branch and expanded in the range of Zones 0 to Th 7. Finally, ALSA coil embolization was performed. She was discharged on postoperative day 36, and at her 2-year follow-up, she was doing well, with shrinkage of Kommerell diverticulum.

Different surgical procedures for Stanford type A aortic dissection: A case control study / 中国胸心血管外科临床杂志

@#Objective    To analyze the near-term clinical efficacy of two different surgical procedures (Sun's procedure and Debranching combined endovascular stent-graft procedure) to cure Stanford type A aortic dissection, and summarize the clinical experience to help better master the indications of the two surgical procedures. Methods     We retrospectively analyzed the clinical data of 46 patients with Stanford A aortic dissection in our hospital between September 2014 and September 2017. There were 39 males and 7 females at age of 20–74 (48.67±11.80) years. According to different surgical methods, the patients were divided into a Sun's procedure group (26 patients) and a debranching combined endovascular stent-graft procedure group (20 patients). The clinical effect of the two groups was compared. Results     The debranching combined endovascular stent-graft procedure group was significantly superior to the Sun's group in cardiopulmonary bypass (CPB) time, aortic cross clamp(ACC) time, intraoperative urine output, postoperative mechanical ventilation time, postoperative 24 h volumes of drain, CICU time, renal function recovery of postoperative 72 h and total hospital stay(P<0.05). The incidence of transient neurological damage after operation in the debranching combined endovascular stent-graft procedure group was significantly lower than that of the Sun's procedure group(P<0.05). The follow-up time ranged from 3 to 36 months. And the follow-up rate was 90.5%. One patient in the Sun's procedure group died of serious pulmonary infection postoperative 30 days. One patient in the debranching combined endovascular stent-graft group was found to have internal leakage in the early postoperative examination and   disappeared after 6 months. Sun's procedure group did not find endoleak. All patients during the follow-up time did not appear brain, coagulation disorders, stroke, paraplegia, upper limb ischemia and other complications. Conclusion     For Stanford type A aortic dissection, debranching combined surgery may have the risk of postoperative endoleak, but the overall effect is superior to Sun's operation. Therefore, debranching combined surgery should be preferred for the treatment of this type of dissection.

Debranching and Endovascular Repair of a Saccular Aneurysm of the Aortic Arch with Preoperatively Devised, Fenestrated and Branched Stent Grafts (Surgeon-Modified Fenestrated and Retrograde Branched Technique) / 日本心臓血管外科学会雑誌

An 85-year-old man being treated for idiopathic interstitial pneumonia underwent chest CT 6 months prior to the current admission and was diagnosed as having an expanding saccular aneurysm of the aortic arch. Due to the patient's advanced age and the anatomical position of the aneurysm, it was difficult to perform total aortic arch replacement or hybrid arch repair with a commercially available device. After ethical approval had been obtained from the institutional review board, a commercially available stent graft (Relay Plus®) was fenestrated with a 12-mm hole. Under general anesthesia, bypass grafting was performed between the bilateral axillary arteries and the right common carotid artery with a T-shaped ring-supported e-PTFE prosthesis. The fenestrated stent graft was advanced through the left femoral artery and deployed with the device fenestration located at the bifurcation of the brachiocephalic artery. Then, a branched stent graft was deployed through the right common carotid artery in a retrograde manner between the brachiocephalic artery and the ascending aorta through the fenestration to complete the procedure. The patient had an uneventful postoperative course, with no detectable endoleak on postoperative digital subtraction angiography. The current technique, involving the use of an easy-to-make device，is effective for endovascular aneurysm repair, especially when a proximal neck needs to be created in the ascending aorta.

Enfermedad por almacenamiento de glucógeno de tipo III en pacientes colombianos: caracterización clínica y molecular / Molecular and clinical characterization of Colombian patients suffering from type III glycogen storage disease

Resumen Introducción. La enfermedad por almacenamiento de glucógeno de tipo III es una alteración autosómica recesiva, en la cual las mutaciones del gen AGL causan una deficiencia en la enzima desramificadora de glucógeno. Se caracteriza por hipoglucemia, hepatomegalia y miopatías progresivas. El análisis molecular del gen AGL ha evidenciado mutaciones que difieren según la población estudiada. En la actualidad, no existen reportes que describan mutaciones en el AGL de pacientes colombianos con esta condición. Objetivo. Describir las características clínicas y moleculares de diez pacientes colombianos con enfermedad por almacenamiento del glucógeno de tipo III. Materiales y métodos. Se analizaron diez pacientes pediátricos colombianos con la enfermedad y se hizo su estudio genético mediante la secuenciación de las regiones que codifican y las intrónicas circundantes del gen AGL con el método de Sanger. Resultados. Todos los pacientes tenían el fenotipo clásico de la enfermedad. El estudio genético reveló la mutación p.Arg910X en dos pacientes. Uno presentó la mutación p.Glu1072AspfsX36 y otro resultó heterocigoto compuesto con las mutaciones p.Arg910X y p.Glu1072AspfsX36. Asimismo, en tres pacientes se detectó la deleción de los exones 4, 5 y 6 del gen AGL. Los estudios de simulación computacional predijeron que estos defectos eran patogénicos. En tres pacientes no se encontraron mutaciones en las regiones amplificadas. Conclusión. Se encontraron mutaciones y deleciones que explican el fenotipo clínico de los pacientes. Este es el primer reporte en el que se describe el fenotipo clínico y el espectro de mutaciones en el gen AGL de pacientes colombianos, lo cual es importante para ofrecer un apropiado pronóstico, y asesoría genética al paciente y a su familia.

Abstract Introduction: Type III glycogen storage disease (GSD III) is an autosomal recessive disorder in which a mutation in the AGL gene causes deficiency of the glycogen debranching enzyme. The disease is characterized by fasting hypoglycemia, hepatomegaly and progressive myopathy. Molecular analyses of AGL have indicated heterogeneity depending on ethnic groups. The full spectrum of AGL mutations in Colombia remains unclear. Objective: To describe the clinical and molecular characteristics of ten Colombian patients diagnosed with GSD III. Materials and methods: We recruited ten Colombian children with a clinical and biochemical diagnosis of GSD III to undergo genetic testing. The full coding exons and the relevant exon-intron boundaries of the AGL underwent Sanger sequencing to identify mutation. Results: All patients had the classic phenotype of the GSD III. Genetic analysis revealed a mutation p.Arg910X in two patients. One patient had the mutation p.Glu1072AspfsX36, and one case showed a compound heterozygosity with p.Arg910X and p.Glu1072AspfsX36 mutations. We also detected the deletion of AGL gene 3, 4, 5, and 6 exons in three patients. The in silico studies predicted that these defects are pathogenic. No mutations were detected in the amplified regions in three patients. Conclusion: We found mutations and deletions that explain the clinical phenotype of GSDIII patients. This is the first report with a description of the clinical phenotype and the spectrum of AGLmutations in Colombian patients. This is importantto provide appropriate prognosis and genetic counseling to the patient and their relatives.

Progress in diagnosis and treatment of aortic dissection / 天津医药

Aortic dissection is a serious disease,and it has a high mortality and disability rates.In recent years,with the application of a variety of imaging tests,especially the development of CT imaging technology,the diagnostic rate of aortic dissection is increased significantly. The recognition and prognostic evaluation of aortic dissection also deepened with the improvement of biochemical detection. A variety of operative modes can be selected according to involved scope of aortic dissection.Especially to the therapeutic method of aortic arch department,not only traditional elephant trunk technique but also Sun's operation and triple-branched stent grafting can be selected.Mortality and complication rates have been dropped significantly after using new operative modes. The application of thoracic endovascular aortic repair (TEVAR) turns the invasive therapy to minimally invasive therapy for the treatment of aortic dissection. But TEVAR has strict imaging constraints.However TEVAR's indications are extended by debranching operation,which makes the patients with surgical contraindications to conform to the operation indication. In this article, on the basis of development of diagnosis and treatment of aortic dissection in recent years,the current early diagnosis,laboratory examination,prognostic evaluation,and the present treatment methods are summarized for reference in basic and clinical research.

Hybrid Technique for Extensive Aortic Arch Aneurysm after Thoracoabdominal Aortic Aneurysm Repair / 日本心臓血管外科学会雑誌

We report a case of operations using a hybrid technique for repeated extensive aortic aneurysm. A 71-year-old man had extensives aneurysms of the aortic arch and descending aorta. In the first operation, he had undergone thoracoabdominal aortic replacement with island repair for thoracoabdominal aortic aneurysm (Crawford type 3) at age 64. Six years later, computed tomography showed an aortic aneurysm around the region of the island repair and penetrating atherosclerotic ulcer (PAU). Therefore, he underwent abdominal debranching and thoracic endovascular aortic repair (TEVAR) at 70 years old. At the same time, he had an extensive aortic arch aneurysm. Considering the complicated surgical history and the affected region, we judged that conventional graft replacement was difficult. So, in the third operation, we performed TEVAR for the descending aorta at 71 years old. One month later, total arch replacement (TAR) with a frozen elephant trunk (FET) was performed (4th operation). The patient was discharged home 22 days after the 4th operation. This strategy of operations using hybrid techniques for extensive aortic aneurysm may be useful in high risk cases of surgical procedures and postoperative complications.

Debranching TEVAR with Left Vertebral Artery Transposition for Aortic Arch Aneurysm with Metal Allergy / 日本心臓血管外科学会雑誌

A 85-year-old man with an abnormal shadow on X-ray was given a diagnosis of aortic arch aneurysm by CT scan. Preoperative additional careful examinations revealed that his dominant vertebral artery was the left one and he had an allergy to metals such as platinum, tin and zinc. He underwent thoracic endovascular aortic repair (TEVAR) after revascularization of left vertebral artery by bypass grafting between bilateral axillary arteries and the left common carotid artery with a T-shape graft. Because of the position of the origin of the left vertebral artery from the left subclavian artery was comparatively proximal part, we made it transposition more distally to occlude the LSA by ligation. We selected conformable GORE® TAG® for zone-1 TEVAR because the stent graft, which was not composed of allergic metals, contained only less allergic metals than any other devices commercially available. More than two years have passed since his discharge and he was followed as an outpatient without any allergic symptom and other remarkable complications. Here, we report a rare case of 2 debranching TEVAR for aortic arch aneurysm with metal allergy.

Improving the expression of recombinant pullulanase by increasing mRNA stability in Escherichia coli

Background: Pullulanase production in both wild-type strains and recombinantly engineered strains remains low. The Shine-Dalgarno (SD) sequence and stem-loop structure in the 5' or 3' untranslated region (UTR) are well-known determinants of mRNA stability. This study investigated the effect of mRNA stability on pullulanase heterologous expression. Results: We constructed four DNA fragments, pulA, SD-pulA, pulA-3t, and SD-pulA-3t, which were cloned into the expression vector pHT43 to generate four pullulanase expression plasmids. The DNA fragment pulA was the coding sequence (CDS) of pulA in Klebsiella variicola Z-13. SD-pulA was constructed by the addition of the 5' SD sequence at the 5' UTR of pulA. pulA-3t was constructed by the addition of a 3' stem-loop structure at the 3' UTR of pulA. SD-pulA-3t was constructed by the addition of the 5' SD sequence at the 5' UTR and a 3' stem-loop structure at the 3' UTR of pulA. The four vectors were transformed into Escherichia coli BL21(DE3). The pulA mRNA transcription of the transformant harboring pHT43-SD-pulA-3t was 338.6%, 34.9%, and 79.9% higher than that of the other three transformants, whereas the fermentation enzyme activities in culture broth and intracellularly were 107.0 and 584.1 times, 1.2 and 2.0 times, and 62.0 and 531.5 times the amount of the other three transformants (pulA, SD-pulA, and pulA-3 t), respectively. Conclusion: The addition of the 5' SD sequence at the 5' UTR and a 3' stem-loop structure at the 3' UTR of the pulA gene is an effective approach to increase pulA gene expression and fermentation enzyme activity.

Debranching and Endovascular Repair for Kommerell's Diverticulum Involving Right-Sided Aortic Arch with Mirror Image Branching / 日本心臓血管外科学会雑誌

A 71-year-old man with an abnormal shadow on chest x-ray was given a diagnosis of Kommerell's diverticulum involving the right-sided aortic arch with mirror image branching. Furthermore, mild funnel chest had been seen on CT scan more than 10 years earlier. The patient was followed up because there were no symptoms ; the Kommerell's diverticulum expanded to reach 63 mm in diameter. To eliminate the risk of rupture, we performed thoracic endovascular aortic repair (TEVAR) with a commercially available device, consisting of bypass grafting of the supra-aortic branches. The patient was discharged from the hospital in good clinical condition, with no signs of endoleak and currently shows no indications of device migration. We thus concluded that debranching TEVAR for Kommerell's diverticulum with right-sided aortic arch is minimally invasive, safe, and effective. Availability of this device that has a new performance feature is expected to improve treatment results and lead to advances in minimally invasive endovascular repair.

Hybrid Repair of Suprarenal Abdominal Aortic Aneurysm: Antegrade Debranching with Endovascular Aneurysm Repair

We report a hybrid repair approach to the treatment of abdominal aortic aneurysm in patients with complex anatomies when typical endovascular aneurysm repair is limited due to juxtarenal involvement. A 63-year-old man presented with a 3-day history of fever and abdominal pain. He was diagnosed with acute cholecystitis along with incidental findings of two separate aneurysms of the abdominal aorta: a 3.7 cm saccular aneurysm at the suprarenal level, and a 6.6 cm fusiform aneurysm above the iliac bifurcation. He was treated with a hybrid technique involving an open approach for antegrade debranching of the superior mesenteric artery, and renal arteries and endovascular stent placement for treatment of an abdominal aortic aneurysm. The procedure was successfully completed with no adverse events as of the most recent 6-month outpatient follow-up.

A Successfully Treated Case of Crawford Type I Thoracoabdominal Aortic Aneurysm with Supra-renal Abdominal Aorta Occulusion by Endovascular Repair and Debranching Visceral Arteries / 日本心臓血管外科学会雑誌

A 64-year-old man under dialysis was referred for surgical treatment of Crawford type I thoracoabdominal aortic aneurysm. He had a history of idiopathic portal hypertension and chronic total occulusion of supra-renal abdominal aorta and appeared to have massive development of collateral arteries and veins in the abdomen. We chose endovascular repair with debranching of visceral arteries and bypass grafting to bilateral superficial femoral artery considering bleeding from collateral arteries and veins by conventional open surgery. Postoperative CT scan revealed no endoleak and all debranched and bypass grafts were patent. He was discharged with no postoperative complications including paraplegia.

AGL gene mutation and clinical features in Korean patients with glycogen storage disease type III

PURPOSE: Glycogen storage disease type III (GSD-III) is a rare autosomal recessive disorder of glycogen metabolism. The affected enzyme, amylo-1,6-glucosidase, 4-alpha-glucanotransferase (AGL, glycogen debranching enzyme), is responsible for the debranching of the glycogen molecule during catabolism. The disease shows clinical and biochemical heterogeneity, reflecting genotype-phenotype heterogeneity among different patients. In this study, we aim at analyzing mutations of the AGL gene in three unrelated Korean GSD-III patients, and characterizing their clinical and laboratory findings. METHODS: We characterized the clinical features of three unrelated Korean GSD-III patients by biochemical, histological and imaging studies. The 35 exons and part of exon-intron boundaries of AGL were analyzed by direct sequencing using genomic DNA extracted from the peripheral leukocytes of patients. RESULTS: Diverse clinical features were observed in these patients including hepatomegaly (all patients), seizures (patient 2), growth failure (patients 1 and 2), hyperlipidemia (patients 1 and 3), raised transaminase and creatine kinase concentrations (all patients), and mild cardiomyopathy (patient 2). Liver transplantation was performed in patient 2 due to progressive hepatic fibrosis. Administration of uncooked corn starch maintained normoglycemia and improved biochemical and growth profiles. DNA sequence analysis revealed mutations in 5 out of 6 alleles. Patient 1 was a compound heterozygote of c.1282 G>A (p.R428K) and c.1306delA (p.S603PfsX6), patient 2 had c.1510_1511insT (p.Y504LfsX10), and patient 3 had c.3416 T>C (p.L1139P) and c.1735+1 G>T (p.Y538_R578delfsX4) mutations. Apart from the p.R428K mutation, the 4 other substitutions identified were novel. CONCLUSION: GSD-III patients display variable phenotypic characteristics resembling those of GSD-Ia. Molecular defects in the AGL gene of Korean GSD-III patients are genetically heterogeneous.