Cantu syndrome: A longitudinal review of vascular findings in three individuals

Cantu syndrome is a rare autosomal dominant disorder caused by missense variants in ABCC9 and KCNJ8. It is characterized by hypertrichosis, neonatal macrosomia, coarse facial features, and skeletal anomalies. Reported cardiovascular anomalies include cardiomegaly, structural defects, collateral vessels, and rare report of arteriovenous malformation (AVM). Arterial dilation is reported in a few individuals including one with surgical intervention for a thoracic aortic aneurysm. The natural history of this aortopathy including the rate of progression or risk for dissection is unknown and longitudinal patient data is unavailable. We present data from vascular imaging in three individuals with genetically confirmed Cantu syndrome over 3 to 14 years of follow‐up. All patients had generally stable aortic dilation, which did not reach the surgical threshold, including one individual followed closely through pregnancy. In adulthood, one individual had a maximum ascending aortic measurement of 4.2 cm. Two pediatric patients had aortic root or ascending z‐scores of approximately +3. A large asymptomatic pelvic AVM was identified in one individual on head‐pelvis MRI. While the data reported in these individuals is reassuring regarding the risk for progressive disease, further data from additional individuals with Cantu syndrome is needed to best inform screening recommendations, improve understanding of dissection risk, and guide management.     

Long term follow up of through-the-scope balloon dilation as compared to strictureplasty and bowel resection of intestinal strictures in crohn’s disease

Background & aims: Ileo-colonic strictures are common complication of Crohn’s disease (CD), and may result in repeated endoscopic or surgical therapy with a risk of further complications, such as perforation or short bowel syndrome. Strictures develop as a consequence of tissue remodelling and fibrosis due to chronic inflammation. This study compares the outcome of CD patients undergoing primarily endoscopic treatment with those undergoing surgery at an university hospital. Methods: In this study we retrospectively included 88 CD patients with intestinal strictures (37 males, 51 females, mean age 40 years, range 19-65 years) of both our medical and our surgical department, who underwent either surgical or endoscopic therapy between January 2002 and January 2006 with prospective, controlled follow-up, extended till January 2010 (mean follow-up period: 5 years; range 4-8 years). The primary end-point was operation- and symptom-free time. Patients were primarily divided into four groups: only surgical therapy, only endoscopic therapy, endoscopy with subsequent surgery, and initial surgical therapy followed by endoscopic dilations. Results: 53% of all patients remained surgery-free with mean follow-up of 49 months; a single endoscopic dilation was sufficient enough in 9 patients to achieve a surgery-free time of 51 months, other patients required up to 5 dilations. The average interval between first and second dilation was 6.5 months, between second and third 10.5 months. In the group of patients with only endoscopic therapy, surgery- and symptom-free time was shorter, as compared to the group of only surgical therapy. We found that stenoses in the surgical group with an average length of 6.5 cm were as expected longer, as compared to the endoscopic group (3 cm, ranging from 2-4 cm). The surgery-free time was 49 months (42-71 months, P = 0.723) with a symptom-free time of 12 months (4.5-46 months, P = 0.921). In the group of only surgically treated patients, 68.4% of the patients had only one stenosis, 18.4% had 2-3 stenoses and 13.2% more than 3 stenoses. In all patients the surgery- and symptoms- free time was 69 months (57-83 months, P = 0.850 and 0.908). The other two groups showed similar results. We found no significant effect of characteristic of stenosis (length, inflammation, the number of stenoses), injection of prednisolone, disease activity at the time of dilation and medication at the time of dilation on the long-term outcome. Importantly, the success of symptom free time correlated with the diameter of the balloon. Conclusions: Endoscopic dilation should be considered as a first-line therapy for short, accessible, fibrotic strictures. Careful patient selection and proper diagnostic imaging pre-procedure are essential requirements for safe and successful treatment. The balloon diameter seems to correlate positively with the long term outcome of dilation. However, at ever shorter intervals between endoscopic interventions, surgery should be discussed as an option for further treatment.     

食管覆膜支架置入术和球囊扩张术在治疗中晚期食管癌中的临床价值探讨

目的:探究中晚期食道癌应用食管覆膜支架置入和球囊扩张术治疗的临床应用价值。方法:对我院收治中晚期食道癌患者110例进行回顾性分析,治疗前本组病例均有病理活检,患者均为不能手术或拒绝手术的患者。所有患者术前均行X线检查,确定病变部位、狭窄长度及与周围组织关系,本组病例均有在术前或术后配合化疗或放射治疗的情况。对110例患者分组,30例患者置入覆膜支架,对30例患者进行球囊扩张,对50例患者不分先后做了食管覆膜支架置入术和球囊扩张术。以术后狭窄扩张效果、生存质量及相关并发症进行比较分析。结果:支架置入成功率100%,平均生存期12个月,食道球囊扩张均经1~3次扩张达到预期效果,成功率70%,生存率9个月,食管覆膜支架置入术联合球囊扩张术治疗中晚期食道癌,总有效率100%,生存期平均16个月。结论:食管覆膜支架置入术联合球囊扩张术,在治疗中晚期食管癌能相对延长患者生存时间、提高生存质量方面明显优于单纯食道食管覆膜支架置入术及单纯球囊扩张术,患者疗效更高,具有理想的临床价值。     

超声造影在乳腺导管扩张性病变中应用价值

目的 分析乳腺导管扩张性病变的超声造影特点,探讨超声造影对乳腺扩张导管内病变良、恶性的鉴别诊断价值.方法 85例乳腺导管内病变患者,均行常规超声、超声造影和组织病理学检查,记录常规超声和超声造影的声像图特征,根据组织病理学检查结果将有肿瘤病灶者分为良性组和恶性组,比较2组病灶的造影参数始增时间(rise time,RT...     

球囊导管扩张术治疗老年人食管癌术后吻合口狭窄的临床应用

目的进一步探讨治疗老年人食管癌术后吻合口狭窄的方法。方法经口或鼻腔置管球囊扩张术治疗老年人食管癌术后吻合口狭窄50例。结果显效率为87．8％,且无复发,远期疗效甚佳。结论球囊扩张术是治疗老年人食管癌术后吻合口狭窄的首选方法。     

The relationship of endothelial function and arterial stiffness with subclinical target organ damage in essential hypertension

This study aimed to explore whether brachial‐ankle pulse wave velocity (baPWV) and brachial artery flow‐mediated dilation (FMD) or the interaction of both parameters are associated with subclinical target organ damage (STOD) indices in patients with essential hypertension. A total of 4618 patients registered from January 2015 to October 2020 were included. baPWV and FMD were measured to evaluate arterial stiffness and endothelial dysfunction. Whereas left ventricular hypertrophy (LVH), urine albumin‐creatinine ratio (UACR), and carotid intima‐media thickness (CIMT) were obtained as STOD indicators. On multivariable logistic regression analysis with potential confounders, higher quartiles of baPWV and FMD were significantly associated with an increased risk of STOD. In patients <65 years of age, the odds ratio (OR) of LVH, UACR, and CIMT ≥.9 mm for the fourth versus the first quartile of baPWV were 1.765 (1.390–2.240), 2.832 (2.014–3.813), and 3.075 (2.315–4.084), respectively. In interaction analysis, an increase in baPWV shows a progressively higher risk of STOD across the quartiles of FMD. Also, the estimated absolute risks of LVH, UACR, and CIMT ≥.9 mm for the first to fourth quartile of baPWV increased from 1.88 to 2.75, 2.35 to 4.44, and 3.10 to 6.10, respectively, in patients grouped by FMD quartiles. The addition of baPWV to FMD slightly improved risk prediction for STOD. BaPWV and FMD were independently associated with an increased risk of STOD in patients with essential hypertension especially among patients <65 years of age. Patients with elevated baPWV and decreased FMD parameters are at increased risk of STOD.     

Intrahepatic cholangiocarcinoma arising 10 years after the excision of congenital extrahepatic biliary dilation

Received: October 6, 2000 / Accepted: January 26, 2001     

早期2型糖尿病患者内皮依赖性血管舒张功能改变的研究

目的　探讨早期 2型糖尿病患者内皮功能的变化。方法　选择 5 0例无血管并发症的 2型糖尿病患者 ,和 2 5例年龄、性别匹配的健康个体。采用高分辨血管外超声法检测肱动脉血流介导的内皮依赖性血管舒张功能和硝酸甘油 (GNT)介导的内皮非依赖性血管舒张功能。结果　2型糖尿病组血流介导的血管舒张功能为 3 .62 % ,明显低于对照组的 4.68% (P <0 .0 5 )。基础血管内径、基础血流、GNT介导的血管舒张功能在 2组间无明显差异 (P >0 .0 5 )。结论　早期 2型糖尿病患者内皮依赖性血管舒张功能降低。     

氯沙坦对血管球囊损伤后内皮素与一氧化氮的影响

目的　观察血管紧张素Ⅱ受体拮抗剂 (ARB)类药物氯沙坦对动脉球囊损伤后内皮素与一氧化氮的影响。方法　 72只雄性新西兰兔随机分为对照组和药物组。两组又按球囊损伤后采血的时间段分为球囊损伤术前、术后 6小时、术后 1天、术后 3天、术后 1周、术后 2周组。其中药物组动物于术前 1周连续给予氯沙坦 (2 0mg/kg/Day)干预 ,术后坚持服药直到采血 ;对照组动物则只进行球囊损伤 ,不予药物干预。测定血浆内皮素 - 1与一氧化氮含量。结果　与单纯球囊损伤组相比 ,药物组球囊损伤术后血浆内皮素水平 (pg/ml)明显降低 ;血浆一氧化氮水平 (μmol/L)明显增高。 结论　氯沙坦能调节内皮素 /一氧化氮比值平衡 ,保护血管内皮细胞的功能。