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Vascular malformations present diagnostic and treatment challenges. In particular, malformations of vessels to the viscera are often diagnosed late or incorrectly due to the insidious onset and deep location of the disease. Therefore, a better knowledge of the genetic mutations underlying such diseases is needed. Here, we evaluated a four-generation family carrying vascular malformations of major vessels that affect multiple organs, which we named "multiorgan venous and lymphatic defect" (MOVLD) syndrome. Genetic analyses identified an association between a mutation in DEAD-box helicase 24 (DDX24), a gene for which the function is largely unknown, and MOVLD. Next, we screened 161 patients with sporadic vascular malformations of similar phenotype to our MOVLD family and found the same mutation or one of the two additional DDX24 mutations in 26 cases. Structural modeling revealed that two of the mutations are located within the adenosine triphosphate-binding domain of DDX24. Knockdown of DDX24 expression in endothelial cells resulted in elevated migration and tube formation. Transcriptomic analysis linked DDX24 to vascular system-related functions. Conclusion: Our results provide a link between DDX24 and vascular malformation and indicate a crucial role for DDX24 in endothelial cell functions; these findings create an opportunity for genetic diagnosis and therapeutic targeting of malformations of vessels to the viscera.
Assuntos
Quilotórax/genética , RNA Helicases DEAD-box/genética , Malformações Vasculares/genética , Vísceras/irrigação sanguínea , Adulto , Sequência de Aminoácidos , Movimento Celular , Células Endoteliais/fisiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Modelos Químicos , Mutação , Linhagem , Conformação ProteicaRESUMO
OBJECTIVES: The purpose of this study was to introduce a modified transjugular intrahepatic portosystemic shunt (TIPS), a percutaneous transhepatic intrahepatic portosystemic shunt (PTIPS), and to evaluate its feasibility and efficacy in patients with variceal bleeding with chronic portal vein occlusion (CPVO) after splenectomy. METHODS: Twenty-four cirrhotic patients with CPVO after splenectomy who received PTIPS between 2010 and 2015 were included in this retrospective study. The indication was elective control of variceal bleeding. Success rates, effectiveness and complications were evaluated, with comparison of the pre- and post-portosystemic pressure gradient (PPG). Patients' clinical outcomes and shunt patency were followed periodically. RESULTS: PTIPS was successfully placed in 22 patients (91.7%) and failed in two. The mean PPG fell from 22.0 ± 4.9 mmHg to 10.6 ± 1.6 mmHg after successful PTIPS (p < 0.05). No fatal procedural complications occurred. During the median follow-up of 29 months, shunt dysfunction occurred in five cases and hepatic encephalopathy in four cases. Three patients died because of rebleeding, hepatic failure and pulmonary disease, respectively. The other patients remained asymptomatic and the shunts patent. CONCLUSIONS: We conclude that PTIPS, as a modified TIPS procedure with a high success rate, is safe and effective for variceal bleeding with CPVO after splenectomy. KEY POINTS: ⢠Portal vein occlusion used to be contraindication to transjugular intrahepatic portosystemic shunt. ⢠Portal vein thrombosis is common in patients with previous splenectomy. ⢠We developed a new method, percutaneous transhepatic intrahepatic portosystemic shunt (PTIPS). ⢠PTIPS is feasible in patients with portal vein thrombosis and splenectomy. ⢠PTIPS is effective and safe for these kind of complicated portal hypertension.
Assuntos
Varizes Esofágicas e Gástricas/cirurgia , Hemorragia Gastrointestinal/cirurgia , Derivação Portossistêmica Transjugular Intra-Hepática/métodos , Esplenectomia/efeitos adversos , Trombose Venosa/cirurgia , Adolescente , Adulto , Idoso , Doença Crônica , Varizes Esofágicas e Gástricas/diagnóstico por imagem , Varizes Esofágicas e Gástricas/etiologia , Estudos de Viabilidade , Feminino , Hemorragia Gastrointestinal/diagnóstico por imagem , Hemorragia Gastrointestinal/etiologia , Encefalopatia Hepática/etiologia , Humanos , Hipertensão Portal/etiologia , Hipertensão Portal/cirurgia , Masculino , Pessoa de Meia-Idade , Veia Porta/cirurgia , Estudos Retrospectivos , Tomografia Computadorizada por Raios X , Trombose Venosa/diagnóstico por imagem , Trombose Venosa/etiologia , Adulto JovemRESUMO
BACKGROUND AND OBJECTIVES: Endovascular therapy (EVT) has emerged as the standard for treating patients with acute ischemic stroke due to large vessel occlusion. The aim of this study was to investigate the relationship between early petechial hemorrhage and patient outcomes after successful EVT of anterior circulation. METHODS: We retrospectively analyzed multicenter data from 316 patients who underwent EVT for acute occlusion of anterior circulation. Patients were divided into petechial hemorrhage group and without hemorrhage group based on post-EVT head imaging. Logistical regression analysis was performed to determine independent predictors for petechial hemorrhage, and for petechial hemorrhage as a predictor of early neurological improvement, favorable outcome at 90 days (modified Rankin Scale 0-2), and 90-day mortality, with adjustment for all factors significantly associated with these endpoints in univariate regression to P < .10. RESULTS: Of 316 included patients with successful EVT, 49 (15.50%) had petechial hemorrhage. The petechial hemorrhage group showed less early neurological improvement (36.73% compared with 53.56%, P = .030), less favorable outcomes at 90 days (32.65% compared with 61.80%, P < .001, absolute risk difference 29.15%), and higher mortality at 90 days (28.57% compared with 10.49%, P = .001) then the group without hemorrhage. Petechial hemorrhage was inversely associated with favorable 90-day outcome (odds ratio = 0.415, 95% CI 0.206-0.835) and higher mortality rate at 90 days (odds ratio = 2.537, 95% CI 1.142-5.635) in multivariable regression but was not independently associated with early neurological improvement. CONCLUSION: In patients with anterior large vessel occlusion who underwent successful EVT, petechial hemorrhage was associated with poor functional outcome and 90-day mortality when adjusted for complete recanalization, pre-EVT National Institute of Health Stroke Scale/Score, and Alberta Stroke Program Early Computed Tomography Score. Despite the relatively lower rate of a favorable 90-day outcome with petechial hemorrhage compared with no petechial hemorrhage, the absolute rate of a favorable outcome exceeds the natural history of medical management for this condition.
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OBJECTIVE: To introduce an innovative procedure for portal hypertension with preliminary results and assess the technical feasibility and efficacy of portosystemic shunt creation through percutaneous transhepatic approach with its potential clinical significance. METHODS: Between November 2009 and January 2011, 8 patients with complicated portal hypertension underwent percutaneous transhepatic intrahepatic portosystemic shunt (PTIPS). The severity of liver disease was Child's A (n = 2), Child's B (n = 3) and Child's C (n = 3). Under fluoroscopic guidance, portal vein (PV) was punctured with a 22-gauge Chiba needle. A 0.018-inch guidewire was advanced through the needle into PV lumen. The needle was exchanged and a 7-French sheath inserted over the wire. Then retrohepatic inferior vena cava (RIVC) or hepatic vein (HV) was punctured with a 20-gauge, 20-cm Chiba needle through sheath. Another 0.018-inch guidewire was advanced through the needle into right internal jugular vein and then snared out of body. A 0.035-inch, 260-cm-long stiff shaft wire was then introduced through the transjugular sheath and manipulated into main portal vein (MPV) and then into superior mesenteric vein (SMV). Afterward the PTIPS procedure was completed in the standard transjugular fashion. RESULTS: The procedure was technically successful in all patients. And effective portal decompression and free antegrade shunt flow were achieved. The mean portal pressure gradient decreased from 31.0 ± 4.3 to 18.9 ± 2.7 mm Hg before and after PTIPS creation respectively and the difference was significant statistically (P < 0.01). Among 8 patients, 1 developed hepatic coma and died after 5 days while the other 7 patients survived. The median follow-up period was 9 months (range: 2 - 20). Among 5 patients with PTIPS created for bleeding varices, no recurrent bleeding occurred during the follow-up period. For the patient with diffuse portal vein thrombosis, the clinical symptoms disappeared after PTIPS and computed tomography (CT) showed the shunt was occluded after 4 months. One patient with refractory ascites had a recurrence of abdominal distention after 2 months. There was a stenotic shunt on CT. Cure was achieved by replanting a stent in MPV. CONCLUSION: PTIPS is both safe and effective for the treatment of portal hypertension with exceptionally challenging anatomy. It is an available supplement for transjugular intrahepatic portosystemic shunt.
Assuntos
Hipertensão Portal/cirurgia , Fígado/cirurgia , Derivação Portossistêmica Cirúrgica/métodos , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Associating liver partition and portal vein ligation for staged hepatectomy (ALPPS) has been recently demonstrated as a method to induce rapid and extensive hypertrophy within a short time and has been employed for a variety of primary and metastatic liver tumors. However, controversies remain due to its high morbidity and mortality. To enable safer surgery, liver surgeons have searched for better technical modifications, such as partial ALPPS, mini-ALPPS, minimally invasive ALPPS, and Terminal branches portal vein Embolization Liver Partition for Planned hepatectomy (TELPP). It seems that TELPP is very promising, because it has the main advantage of ALPPS - the rapid increase of future liver remnant volume, but the morbidity and mortality are much lower because only one surgical operation is required.