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【Objective】 To analyze the genetic variation characteristics and clinical phenotypes of a family with primary microcephaly (MCPH) caused by RTTN gene variation, and to provide reference for genetic counseling and prenatal diagnosis. 【Methods】 Clinical data of the three patients (including 2 fetuses and 2-year-old proband,and one fetus with clinical diagnosis) and their parents were collected and analyzed. Two of the children and their parents were tested by trio whole exome sequencing (trio-WES), sanger sequencing validation sites, and the hazard of their compound heterozygous variants was predicted. Literature review was conducted through domestic and international databases to collect reported RTTN gene mutation cases. 【Results】 Three patients in this family had anomalies of the septum pellucidum, hypoplasia of the corpus callosum and other brain malformations during fetal period. The proband (G2) and fetus (G3) showed intrauterine growth retardation and MCPH in late pregnancy; besides, G2 was born with global developmental delay. Trio-WES detected a c.2101(exon16)C>T(p.Arg701Ter,1526) nonsense and a c.2863(exon22)G>A(p.Glu955Lys)missense in the RTTN gene of G2 and G3, which were inherited from their father and mother, forming a compound heterozygous variant. According to the American College of Medical Genetics and Genomics (ACMG) variant classification guidelines, two variants were likely to be pathogenic (LP) and uncertain significance (VUS). Among them, c.2863(exon22)G>A was a newly discovered missense, which was predicted by the software to be harmful to the gene product. 【Conclusions】 Complex heterozygous variations of RTTN gene (c.2101C>T and c.2863G>A) are the genetic cause of MCPH in this family. This report has enriched the variation spectrum of RTTN gene, provided guidance for prenatal diagnosis and reproduction of this family, as well as material and reference for further understanding of the diseases caused by this gene mutation.
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Objective:To evaluate the safety and efficacy of n-butyl cyanoacrylate (NBCA) in treating great saphenous vein(GSV) incompetence.Methods:60 patients (60 limbs) with GSV incompetence were randomly divided into NBCA glue group (30 cases) and radiofrequency ablation(RFA) group in 30 cases. The clinical outcomes, venous clinical severity score(VCSS), and quality of life using the Aberdeen varicose vein questionnaire(AVVQ) were evaluated. The primary endpoint is the occlusion rate of GSV at 3 months after surgery.Results:For the two groups, the occlusion rate of GSV was 100% immediately after surgery and at 3 months follow-up. AVVQ and VCSS were improved in the two groups( P<0.05). In terms of complications, the NBCA group had scleroma in 3 cases, pain and skin redness in 1 case respectively, but no ecchymosis and numbness. In the RFA group, numbness occurred in 1 case, skin redness in 2 cases, scleroma in 3 cases, ecchymosis and pain in 4 cases respectively. The incidence of ecchymosis and total complications in the NBCA group was significantly lower than that in the RFA group( P<0.05). No DVT or other adverse event occurred in both groups. Conclusion:NBCA and RFA have the same short-term closure rate. Furthermore, the NBCA treatment requires less equipment, no use of tumescent anesthetic, and has lower incidence in terms of complications than that of RFA.
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Objective:To investigate the imaging characteristics of uncomplicated acute type B aortic dissection (uATBAD) and the short-term and mid-term outcomes treated with thoracic endovascular aortic repair (TEVAR).Methods:One hundred and forty uATBAD patients treated by TEVAR at Zhejiang Provincial People's Hospital from Jan 2015 to Aug 2021 were retrospectively analyzed. Patients were divided into non-high-risk characteristics group (uATBAD group, 22 cases) and high-risk characteristics group (high-risk uATBAD group, 118 cases) according to the presence or absence of high-risk characteristics. The clinical and follow-up data were analyzed, and the incidence of complications, re-intervention rate, and mortality in the perioperative period and 5-year follow-up were evaluated.Results:The aortic diameter, false lumen diameter and the proportion of laceration in lesser curvature in the high-risk group were higher than those in the non-high-risk group ( P<0.05). There was no significant difference in the incidence of perioperative complications and 30 day mortality between two groups ( P>0.05). The follow-up time ranged from 6 to 83 months (mean 38.3 months). The 5-year mid-term follow-up showed that there was no significant difference in the incidence of aorta-related complications, re-intervention rate, and mortality between two groups ( P>0.05). Conclusions:The imaging characteristics of different typing uATBAD were significantly different. The short- and mid-term clinical effects of TEVAR were similar between the two groups.
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Objective:To investigate thromboprophylaxis of patients with COVID-19.Methods:Clinical data of 31 patients with COVID-19 in Zhongnan Hospital of Wuhan University was analyzed retrospectively, including basic information, clinical characteristics, examination results, therapy and Padua scores. 5G remote ultrasound diagnosis system was used in the ultrasonography of lower limb vein, inferior vena cava and the heart. According to the patient′s status, the thromboprophylaxis was established, and the incidence of venous thromboembolism (VTE) was observed.Results:There were 20 cases of general types and 11cases of severe types. All patients underwent dynamic assessment and thromboprophylaxis. Basic prevention was applied in 28 cases and mechanical prevention was used in 3 cases. There was no VTE event in all patients during hospitalization.Conclusions:Prevention and monitoring of VTE is an important part of the treatment of patients with COVID-19, which can effectively reduce the incidence of lower extremity deep vein thrombosis and fatal pulmonary embolism in isolation ward.
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Objective To evaluate the long-term follow-up results of foam sclerosing agent in the treatment ofincompetent perforating vein.Methods 153 cases (316 incompetent perforating veins)received the treatment of foam sclerotherapy.The closure of perforating branches was followed up by ultrasound.Results 12 cases (27 incompetent perforating veins) were lost to follow up.289 incompetent perforating veins got follow up,The median follow-up time was 17 months (11-36 months).Closure rate was 100％ in vessels less than 3 mm in diameter,while that was 76％ invessels with the diameter between 3-5 mm.Closure rate was 16％ in vessels larger than 5 mm in diameter.Conclusion The long-term efficacy of the foam sclerosing agent in the treatment of incompetent perforating vein depends on the diameter of the vein.
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Objective To evaluate the effect of antiplatelet drugs and ischemic-events-free duration by thromboelastography (TEG) in patients undergoing peripheral endovascular treatment.Methods From Mar 2015 to Oct 2016,38 patients undergoing initial successful peripheral stenting and then coming back for recurrent ischemic events.TEG was used to evaluate the platelet inhibition rate induced by arachidonic acid (AA％) approach,the platelet inhibition rate induced by adenosine diphosphate (ADP％) approach,and the ADP-induced platelet-fibrin clot strength (MAADP).Clinical feature differences between patients with MAADP ＞ 47 mm and MAADP ≤ 47 mm were compared.Results AA％ less than 50％ was found in 9 patients(23.9％),and ADP％ less than 30％ in 14 patients(36.8％).5 patients met the two conditions.Patients with MAADp ＞ 47 mm had a significantly lower ADP％ (x2 =10.755,P ＜ 0.001),compared to patients with MAADP ≤47 mm.Univariate survival analysis showed ADP％ ＜ 30％ and MAADP ＞47 mm were risk factors for getting shorter ischemic-events-free duration,compared to patients with ADP％ ≥ 30 (P ＜ 0.001),with MAADP ≤47 mm (x2 =4.408,P =0.036).Conclusions TEG may detect those patients who has a low response to antiplatelet drugs,and some TEG parameters may have a ischemic predictive value.
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OBJECTIVE@#To sum up experience in unibody bifurcation stent graft in the treatment of abdominal aortic aneurysm with aortic bifurcation stenosis.@*METHODS@#Clinical data of 19 cases of abdominal aortic aneurysm and aortic bifurcation stenosis received endovascular treatment using unibody bifurcation stent graft in Zhejiang Provincial People's Hospital during March 2009 and March 2018 were collected. The clinical characteristics, surgery procedure and follow-up results were reviewed.@*RESULTS@#Stent graft was successful in all patients, and the average operation time was (70.0±2.3) min. Leakage was found in 3 patients, in which 2 patients with type Ⅰ leakage and 1 patient with type Ⅱ leakage. All leakage disappeared 15 days after surgery. The 19 cases were followed-up for 9-48 months with the median follow-up time of 27 months, and no displacement, leakage and lower limb ischemia was observed.@*CONCLUSIONS@#Unibody bifurcation stent graft is of satisfactory long-term effect for patients with abdominal aortic aneurysm and aortic bifurcation stenosis, and can avoid displacement of stent graft after operation.
الموضوعات
Humans , Aortic Aneurysm, Abdominal , General Surgery , Aortic Valve Stenosis , General Surgery , Blood Vessel Prosthesis Implantation , Stents , Treatment Outcomeالملخص
Objective To discuss the curative effect and clinical significance of sclerosing foam agent in the treatment of chronic venous diseases (CVD) with incompetent perforating veins.Methods 65 cases of C4,C5,C6 CVD (a total of 84 limbs) underwent foam sclerotherapy closure for incompetent perforating vein.Patients were followed-up for 3 months,ultrasonography was used to observe the closure of perforating veins and the curative effect.Results 7 patients (9 limbs) were lost to follow-up,all with grade C4.In the 66 (C4,C5) limbs,pigmentation significantly subsided in 45,partial regression in 9,no change in 2.In the 9 limbs with grade C6,complete healing of ulcer in 5,partially healed in 3.Ultrasound observed satisfactory perforating vein closure.Conclusion Foam sclerotherapy closure for incompetent perforating vein has satisfactory effect,with good short-term curative result.
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BACKGROUND:Bone cement has certain toxic effects on the human body. The probability of renovation is high after bone cement total hip arthroplasty. It is reported that the long-term effect of cementless total hip arthroplasty is apparently better than bone cement total hip arthroplasty, and can be renovated conveniently. OBJECTIVE:To investigate the clinical effect of cementless total hip arthroplasty on hip joint disease, and to compare the difference between unilateral replacement and bilateral replacement. METHODS: Clinical and folow-up data of 233 patients (280 hips), who were treated with cementless total hip arthroplasty in the Department of Orthopedics, Wuzhou Worker’s Hospital, Seventh Affiliated Hospital of Guangxi Medical University from July 2007 to December 2013, were retrospectively analyzed. According to the replacement program, they were divided into unilateral replacement group (n=186) and bilateral replacement group (n=47). Harris score of hip joint, visual analog scale score of thigh pain, the excelent and good rate of hip joint during final folow-up and complications were compared between the two groups before replacement, at 6, 12 and 24 months after replacement. RESULTS AND CONCLUSION:No significant difference in Harris scores was detected before replacement, at 6, 12 and 24 months after replacement (P > 0.05). Harris score was significantly higher at 6, 12 and 24 months after replacement compared with that before replacement in both groups (P 0.05). No significant difference in the visual analog scale score was seen before replacement, at 6, 12 and 24 months after replacement (P > 0.05). Visual analog scale scores were significantly lower at 6, 12 and 24 months after replacement than that before replacement in the two groups (P 0.05). These findings confirm that the effects of cementless total hip arthroplasty for hip joint disease are evident, can effectively restore hip joint function. No significant difference was detected between unilateral replacement and bilateral replacement. Strict replacement operation and matching of prosthesis and medulary cavity can effectively reduce thigh pain after replacement.
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Objective:To explore the therapeutic effect of monoclonal anti EGFR antibody leading chemotherapy to human tumors.Methods:To prepare immunoconjugate of chemotherapy drugs with anti EGFR antibody and apply to clinic,and to observe it′s therapeutic effect and side effect. Results: This conjugated method could relief clinic symptoms and reduce side effect of tissues and organs significantly.Conclusion:Conjugates of monoclonal therapy of anti EGFR antibody and drug attached chemotherapy is a new and effective way for treatment of human tumors, and it can reduce side effect of the drugs meanwhile.
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ObjectiveTo evaluate the effect of regional radical pancraticoduodenectomy (PD) combined with resection and reconstruction of invaded blood vessel (Fortner type Ⅰ?Ⅱ procedure) for pancreatic cancer.MethodsResult of 5 Fortner Ⅰ cases undergoing PD and resection of superior mesenteric-portal vein (SMPV),and 1 FortnerⅡ case with resection of SMPV,superior mesenteric artery(SMA)and hepatic artery(HA) was reviewed. ResultThe case undergoing Fortner Ⅱ surgery survived for 13 months.The 5 Fortner Ⅰ cases were followed-up for 5～34 months,with patent graft as identified by CT and ultrasonography and with no recurrence. ConclusionRegional pancreatectomy combined with resection of invaded blood vessel can be carried out in carefully selected patients of pancreatic cancer with favourable long term-result.
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Objective To evaluate surgical indications and method for regional pancreatoduodenectomy combined with blood vessel reconstruction. Methods Forty-four patients underwent pancreatoduodenectomy combined with superior mesenteric vein and portal vein(smv-pv) resection and reconstruction between April 1994 and March 2001.Among them superior mesenteric artery (SMA) and hepatic artery (HA) were reconstructed in 4 and 2 cases, respectively. Partial resection of the anterior wall of the inferior vena cava was performed in one case for tumor invasion. Results The overall mortality was 7.1%,with no complications. The resected endothelium or margins of the blood vessel and pancreas were microscopically tumor free in all cases. Histological specimen examinations demonstrated adenocarcinoma of pancreas head in 43 cases, neuroendocrine adenocarcinoma was diagnosed in one case. Patients were followed-up from 3～87 months with 2 cases lost after PV/SMV for pancreatoduodectomy. Six patients have survived more than 5 yearsand 21 cases more than 3 years. Conclusion Regional pancreatoduodenectomy combined with reconstructionof blood vessel could increase tumor resection rate in properly selected patients and could be performed safely without increased morbidity and mortality.