Application progress of high-throughput sequencing in antiphospholipid syndrome / 中华预防医学杂志

Antiphospholipid syndrome (APS) is characterized by arterial and venous thrombosis and(or) morbid pregnancy, accompanied by persistent antiphospholipid antibody (aPL) positivity. However, due to the complex pathogenesis of APS and the large individual differences in the expression of aPL profiles of patients, the problem of APS diagnosis, prognosis judgment and risk assessment may not be solved only from antibody level. It is necessary to use new technologies and multiple dimensions to explore novel APS biomarkers. The application of next generation sequencing (NGS) technology in diseases with high incidence of somatic mutations, such as genetic diseases and tumors, has been very mature. Thus, gradually understanding the research and application progress of APS by NGS technology from genome, transcriptome, epigenome and other aspects is meaningful. This article reviews the related research of NGS technology in APS, and provide more reference for the deep understanding of the APS-related screening markers and disease pathogenesis.

Nefrectomía radical con trombectomía de vena cava: 20 años de cirugías por tumor renal / Vena cava thrombectomy in kidney cancer. Report of 32 nephrectomies

BACKGROUND: Vena cava (VC) involvement in kidney tumors occurs in 4 to 10% of cases, and is associated with a higher mortality. Nephrectomy with thrombectomy of the VC, performed by a multidisciplinary team, improves survival. Aim: To report a series of consecutive nephrectomies with caval thrombectomy performed in an academic center. PATIENTS AND METHODS: We report 32 patients with cT3b and 3c renal tumors, who underwent radical nephrectomy with VC thrombectomy between 2001 and 2021. A descriptive analysis of clinical, surgical and pathological variables was performed. Overall survival (OS) and cancer-specific survival (CSS) was calculated using Kaplan-Meier curves. Results: The mean tumor size was 9.7 cm. According to Mayo classification 3/32 (9%) patients had a type I thrombus, 10/32 (31%) had a type II thrombus, 8/32 (25%) had a type III thrombus, and 5/32 (16%) had a type IV thrombus. The mean bleeding was 2000 cc. There was one intraoperative death. Nineteen percent of patients had complications >= 3 according to Clavien-Dindo classification. Reoperations occurred in 9%. Pre and postoperative creatinine levels were 1.17 and 1.91 mg/dl respectively (p < 0.01). Pre and postoperative Hematocrit levels were 47.9 and 31% respectively (p = 0.02). Sixty six percent of tumors were clear cell renal cancer, 9% were papillary and 3% were chromophobic. Mean OS was 10 months. Two-year SCE was 40%. CONCLUSIONS: Our results are similar to those reported elsewhere. Despite being an unusual pathology, the surgical technique has been improving, thanks to the multidisciplinary work of urologists and surgeons.

Observation of preventive effect of intervention strategy based on Caprini risk evaluation model on venous thromboembolism after total knee arthroplasty / 中国骨伤

OBJECTIVE@#To observe preventive effect of Caprini based thrombosis risk evaluation model on venous thromboembolism (VTE) after total knee replacement (TKA).@*METHODS@#Totally 257 TKA patients were admitted from May 2017 to December 2021 were selected. They were divided into conventional intervention strategies (121 patients in control group) and intervention strategies based on Caprini thrombosis risk evaluation model (136 patients in observation group), based on whether Caprini thrombosis risk evaluation model was introduced in May 2019. In normal gourp, there were 79 males and 42 females aged from 50 to 78 years old with an average of (63.10±11.86) years old;body mass index (BMI) ranged from 19 to 32 with an average of (25.21±4.95) kg/m2;55 patients on the left side and 66 on the right side. In observation group, there were 81 males and 55 females aged from 50 to 78 years old with an average of (64.35±10.54) years old;BMI ranged from 19 to 32 with an average of (24.43±5.18) kg/m2;87 patients on the left side and 49 on the right side. The incidence of VTE, visual analogue scale (VAS), Hospital for Special Surgery (HSS) score, affected limb swelling, mean velocity(Vm), peak velocity (PV), D-dimer (D-D), prothrombin time(PT), and incidence of complications were analyzed and compared.@*RESULTS@#The incidence of VTE in observation group was 1.47%(2/136), and 9.09%(11/121) in control group, and there was statistically difference between two groups (χ2=6.976, P=0.008). At 7 days after operation, VAS, HSS score and the difference in circumference of the affected limb in observation group were significantly better than those in control group, and had statistically differences (P<0.05). Blood flow Vm and PV levels between two groups were significantly increased (P<0.001), and blood flow Vm and PV levels in observation group were significantly higher than those in control group on the 7th day after operation, and had differences (P<0.001). The serum D-D level in observation group was significantly lower than that of in control group on the 7th day after operation, and PT level was significantly higher than that of in control group, and had difference(P<0.05). There was no difference in total incidence of complications between two groups (χ2=4.488, P=0.034).@*CONCLUSION@#Intervention strategy based on caprini thrombus risk evluation model could effectively reduce incidence of VTE and complications in TKA patients, improve swelling, hemodynamics and coagulation function of the affected limbs, and contribute to recovery of knee joint function.

Trombosis aórtica en tres pacientes con COVID-19 / Aortic thrombosis in three patients with COVID-19

Resumen En el curso de la pandemia por COVID-19, se ha observado un aumento de casos de patología trombótica, particularmente en pacientes que cursan con neumonías y formas graves de la enfermedad. Con mayor frecuencia se ha descrito la trombosis venosa profunda y el tromboembolismo pulmonar, no obstante, también se han reportado casos de trombosis aórtica y de otras arterias. La fisiopatología no es del todo conocida, pudiendo explicarse por la influencia de múltiples factores. Este artículo presenta tres casos clínicos de trombosis aórtica y revisa la literatura en materia del estado procoagulante asociado a la infección por COVID-19.

In the course of the COVID-19 pandemic, an increase in cases of thrombotic pathology has been observed, particularly in patients who present with pneumonia and severe forms of the disease. Deep venous thrombosis and pulmonary thromboembolism have been more frequently described. However cases of thrombosis affecting aorta and other arteries have also been reported. Its pathophysiology is not entirely known and could be explained by the influence of multiple factors. This article presents three clinical cases of aortic thrombosis and reviews the literature on the procoagulant state associated with COVID-19 infection.

Funcionabilidad y durabilidad de fístulas arterio-venosas para hemodiálisis en pacientes no diabéticos / Functionability and durability of arterio-venous fistulas for haemodialysis in non-diabetic patients

Introducción: Existe un incremento anual de pacientes con insuficiencia renal crónica tributarios a hemodiálisis. Para la realización de esta se requiere de la correcta inserción de accesos vasculares que sean duraderos y funcionales. Objetivo: Caracterizar la durabilidad y funcionabilidad de las fístulas arterio-venosas en pacientes no diabéticos con enfermedad renal crónica. Métodos: Se realizó un estudio ambispectivo en 60 pacientes no diabéticos, con enfermedad renal crónica, portadores de una fístula arterio-venosa interna autóloga. Se describieron las variables: edad, sexo, grado de la enfermedad, lugar de confección, durabilidad, funcionabilidad, intentos, superficialización, uso de prótesis de poli-tetra-fluoro-etileno y complicaciones. Resultados: La edad media de los pacientes fue de 55,7 ± 12,7 años y la mitad estuvo entre 40 y 59 años. Los del sexo masculino ocuparon el 71,7 por ciento. Las fístulas duraderas (66,7 por ciento) y las funcionales (71,7 por ciento) se mostraron como las de mayor aparición. Los pacientes con la enfermedad en grado 4 ocuparon el 51,7 por ciento. Las fístulas en zonas radio-cefálica (43,3 por ciento) y húmero-cefálica (45 por ciento) primaron. Solo el 71,7 por ciento tuvo un intento de cirugía. Únicamente en el 20 por ciento se realizó superficialización y cuatro pacientes (6,4 por ciento) recibieron prótesis de poli-tetra-fluoro-etileno. La trombosis representó la complicación más frecuente (25 por ciento). Conclusiones: La durabilidad y la funcionabilidad de las fístulas elaboradas se asociaron con factores como el grado de la enfermedad, el número de intentos, el uso de prótesis vasculares y las complicaciones(AU)

Introduction: There is an annual increase of patients with chronic renal impairment who need haemodialysis. The correct insertion of vascular accesses that are durable and functional is required to perform haemodialysis. Objective: Characterize the durability and functionability of arterio-venous fistulas in non-diabetic patients with chronic kidney disease. Methods: An ambispective study was conducted in 60 non-diabetic patients, with chronic kidney disease carrying an autologous internal arterio-venous fistula. The described variables were: age, sex, stage of the disease, place of manufacture, durability, workability, attempts, superficialization, use of polytetrafluoroethylene prostheses, and complications. Results: The average age of patients was 55.7 ± 12.7 years and half were between 40 and 59 years old. Males were 71.7 percent. Durable (66.7 percent) and functional (71.7 percent) fistulas were shown as the most common ones. Patients with a grade 4 disease represented the 51.7 percent. Fistulas in radio-cephalic zones (43.3 percent) and humerus-cephalic zone (45 percent) prevailed. Only 71.7 percent had an attempt of surgery. Only 20 percent had superficialization and four patients (6.4 percent) received polytetrafluoroethylene prostheses. Thrombosis was the most common complication (25 percent). Conclusions: The durability and functionability of the prepared fistulas were associated with factors such as the stage of the disease, the number of attempts, the use of vascular prostheses, and the complications(AU)

Caracterización de los pacientes con fístulas arterio-venosas para hemodiálisis / Characterization of patients with arteriovenous fistulas for hemodialysis

Introducción: La insuficiencia renal crónica es una enfermedad frecuente que requiere del uso vital de la hemodiálisis, procedimiento común en los pacientes que la padecen, por lo cual resulta necesario disponer de un acceso vascular adecuado. Objetivo: Caracterizar a los pacientes con fístulas arterio-venosas para hemodiálisis en el Hospital Clínico-Quirúrgico "General Freyre de Andrade". Métodos: Se realizó un estudio descriptivo-retrospectivo en 88 pacientes con fístulas arterio-venosas. Se recogieron las siguientes variables: edad, sexo, tipo de acceso vascular, localización, complicaciones inmediatas y tardías, y procedimiento corrector. El período de estudio abarcó desde enero de 2018 hasta enero de 2019. Resultados: Se les realizaron a los pacientes un total de 88 fístulas arterio-venosas. Predominó el sexo masculino (67 por ciento). Prevaleció el grupo de edades de 50 a 59 años (36,4 por ciento). La fístula arterio-venosa humero-cefálica (48,9 por ciento) resultó el procedimiento más realizado. El hematoma, la trombosis y la infección fueron las complicaciones inmediatas con mayor frecuencia (3,4 por ciento). De las complicaciones tardías, predominó la trombosis (3,4 por ciento), mientras que la trombectomía prevaleció como procedimiento corrector (37,5 por ciento). Conclusiones: Como parte del acceso vascular, la fístula humero-cefálica presentó los mejores resultados en cuanto a permeabilidad y durabilidad. Por otra parte, la fístula humero-humeral constituyó una alternativa cuando no se pudieron usar las venas cefálica y basílica a nivel del pliegue del codo(AU)

Introduction: Chronic kidney disease is a frequent condition that demands the vital use of hemodialysis, a common procedure in patients who suffer from it; therefore, it is necessary to have adequate vascular access. Objective: To characterize patients with arteriovenous fistulas for hemodialysis at General Freyre de Andrade Clinical-Surgical Hospital. Methods: A descriptive-retrospective study was carried out in 88 patients with arteriovenous fistulas. The following variables were selected: age, sex, type of vascular access, location, immediate and late complications, and corrective procedure. The study period covered from January 2018 to January 2019. Results: A total of 88 arteriovenous fistulas were approached among all the patients. The male sex predominated (67 percent). The age group 50-59 years (36.4 percent) prevailed. The procedure for creating a humeral cephalic arteriovenous fistula (48.9 percent) was the most performed. Hematoma, thrombosis and infection were the immediate complications with the highest frequency (3.4 percent). Among late complications, thrombosis prevailed (3.4 percent); while thrombectomy prevailed as a corrective procedure (37.5 percent). Conclusions: As part of vascular access, the procedure for creating humeral cephalic fistula presented the best outcome in terms of patency and durability. On the other hand, the procedure for creating the humeral fistula was an alternative when the cephalic and basilic veins could not be used at the level of the elbow crease(AU)

Limb ischemia in patients with COVID-19 / Isquemia de membros em pacientes com COVID-19

Abstract This narrative review covers the life-threatening thromboembolic events associated with SARS-CoV-2 infection/COVID-19. It addresses the physical changes that cause vascular and arterial damage to limbs, laboratory management of coagulation, and management of anticoagulation. COVID-19's relationship with deep venous thrombosis and arterial thrombosis is also emphasized. The main thromboembolic events described in the literature are illustrated with examples from our experience with COVID-19 patients.

Resumo Esta revisão narrativa abrange os eventos tromboembólicos com risco de vida associados a infecção por SARS-CoV-2/COVID-19. Aborda as mudanças físicas que causam danos vasculares e arteriais aos membros, o manejo laboratorial da coagulação e o manejo da anticoagulação. A relação de COVID-19 com trombose venosa profunda e trombose arterial também é enfatizada. Os principais eventos tromboembólicos descritos na literatura são ilustrados a partir de nossa experiência com pacientes COVID-19.

Acute arterial ischemia in COVID-19 / Isquemia arterial aguda em pacientes com COVID-19

Abstract Since the coronavirus pandemic set in in Spain in March 2020, a noteworthy increase in the incidence of acute limb ischemia (ALI) has been observed. It has been recently discovered that SARS-CoV 2 may lead to ALI secondary to arterial thrombosis. Elevation of D-dimer (DD) in patients with coronavirus infection (COVID-19) indicates that a hypercoagulable state causes acute arterial thrombosis. A remarkably high DD elevation has been reported to be a poor prognosis factor in COVID-19. The ways in which SARS-CoV 2 results in arterial thrombosis may be multiple. On the other hand, surgical revascularization for ALI is associated with poor outcomes in COVID-19 patients, probably in relation to hypercoagulability. Here, we describe two ALI cases in patients who required urgent surgical treatment for limb salvage and were positive for the novel coronavirus infection (COVID 19).

Resumo Desde que a pandemia pelo novo coronavírus se estabeleceu na Espanha, em março de 2020, um aumento notável da incidência de isquemia aguda de membros foi observado. Recentemente, descobriu-se que o coronavírus 2 causador da síndrome respiratória aguda grave (SARS-CoV-2) pode ocasionar isquemia aguda de membros secundária à trombose arterial. A elevação do D-dímero em pacientes acometidos pela doença do novo coronavírus (COVID-19) indica o estado de hipercoagulabilidade como causa da trombose arterial aguda. Vale destacar que a alta elevação do D-dímero foi relatada como um fator de prognóstico reservado na COVID-19. Há diversas maneiras pelas quais o SARS-CoV-2 pode resultar em trombose arterial. Em pacientes com COVID-19, a revascularização cirúrgica para isquemia aguda de membros está associada a desfechos desfavoráveis, provavelmente relacionados a hipercoagulabilidade. Descrevemos dois casos de isquemia aguda de membros de pacientes que necessitaram de tratamento cirúrgico de urgência para salvamento de membro e que haviam testado positivo para COVID-19.

Cavernomatosis de la porta: presentación de un caso / Portal cavernomatosis: a case report

Fundamento: La cavernomatosis portal es una enfermedad poco frecuente causada por la trombosis de la vena porta, que provoca hipertensión portal (HP). Se ha relacionado con la realización de cateterismo umbilical, traumatismos abdominales e infecciones del período neonatal. La presentación clínica más frecuente es la hemorragia digestiva alta, con o sin melena, esplenomegalia, red venosa colateral y en etapas tardías puede observarse pancitopenia. Los métodos diagnósticos son ecografía abdominal, endoscopía digestiva y la angiotomografía. El diagnóstico definitivo es anatomopatológico. La literatura internacional y nacional es escasa para esta enfermedad, predominando el reporte de casos referidos a la edad pediátrica. Objetivo: presentar las características que definen esta enfermedad, en ocasión de darle seguimiento terapéutico a un paciente. Presentación de caso: se presenta un paciente de 20 años de edad, cuyo diagnóstico fue eventual por hallazgo ultrasonográfico en el periodo neonatal, con retraso madurativo y malnutrición proteico-energética. Conclusiones: la cavernomatosis portal o transformación cavernomatosa de la porta se define como la dilatación de las venas paracoledocianas y epicoledocianas generalmente secundaria a una trombosis portal, con una escasa prevalencia, fundamentalmente en edades pediátricas, que constituye la primera causa de hipertensión portal en este grupo etario. Provoca retardo del desarrollo pondoestatural, malnutrición proteicoenergética y sangramientos digestivos.

Background: Portal cavernomatosis is a rare disease caused by portal vein thrombosis, causing portal hypertension. It has been associated with performing umbilical catheterization, abdominal trauma and infections in the neonatal period. The most frequent clinical presentation is bleeding upper digestive, with or without melena, splenomegaly, collateral venous network and pancytopenia can be observed in late stages. Diagnostic methods are abdominal ultrasound, digestive endoscopy, and angiotomography. The definitive diagnosis is pathological. The international and national literature is scarce for this disease, with the predominant reporting of cases referring to pediatric age. Objective: to present the characteristics that define this disease, on the occasion of giving therapeutic follow-up to a patient. Case presentation: a 20-year-old patient is presented, whose diagnosis was eventual by ultrasound finding in the neonatal period, with maturational delay and protein-energy malnutrition. Conclusions: portal cavernomatosis or cavernomatous transformation of the Porta is defined as the dilation of the paracholedocian and epicoledocian veins generally secondary to portal thrombosis, with a low prevalence, mainly at pediatric ages, which is the leading cause of portal hypertension in this group. etareo. It causes delayed development of the body, protein-energy malnutrition and digestive bleeding.

The role of platelet parameters in thrombosed hemorrhoids / O papel dos parâmetros plaquetários nas hemorróidas trombosadas

ABSTRACT Objectives: The most common disease of anus is hemorrhoids. The definition of external hemorrhoids suggests the acute phase, often characterized by thrombosis or edema. External thrombosed hemorrhoid is a specific complication. In this study, we aimed to investigate the effects of different platelet parameters in the presence of internal or external thrombosed hemorrhoids. Methods: Patients examined were divided into two groups: Group 1: Thrombosed hemorrhoids group (THG), Group 2: Hemorrhoidectomy group (HG). Demographic and clinical data were identified. In terms of laboratory findings, preoperative hemoglobin, hematocrit and all platelet parameters were recorded. Main results: Fifty-two patients in THG, and 75 patients in HG were included in the study. In female sex and young age group, the risk of developing thrombosed hemorrhoids was statistically significant (p= 0.029, p= 0.039, respectively). When the platelet parameters were evaluated; while PDW was higher in THG (p= 0.008), any significant difference could not found in all other values (p> 0.05). Thrombosed hemorrhoids were mostly (59.25%) found to be located in the left laterodorsal part of anus. Conclusion: Internal hemorrhoids are frequently seen in the ages of 45-65 with similar rates in both sexes, while external thrombosed hemorrhoids occur at a younger age (<45) and more often in women. Comparing in terms of platelet indexes, PDW value was found to be significantly higher in THG. In young people, thrombosed hemorrhoids may develop more frequently, as the connective tissue that forms the anal pads is not loose enough to form an internal hemorrhoid, as more seen in older patients.

RESUMO Objetivos: A doença anal mais comum são as hemorróidas. A definição de hemorróidas externas sugere a fase aguda, muitas vezes caracterizada por trombose ou edema. A hemorroida externa trombosada é uma complicação específica. Neste estudo, objetivamos investigar os efeitos de diferentes parâmetros plaquetários na presença de hemorróidas trombosadas internas ou externas. Métodos: Os pacientes examinados foram divididos em dois grupos: Grupo 1, Grupo de Hemorróidas Trombosadas (GHT); Grupo 2, Grupo de hemorroidectomia (GH). Os dados demográficos e clínicos foram identificados. Em termos de achados laboratoriais, a hemoglobina pré-operatória, o hematócrito e todos os parâmetros plaquetários foram registrados. Resultados principais: Cinquenta e dois pacientes em GHT e 75 pacientes em GH foram incluídos no estudo. No sexo feminino e na faixa etária jovem, o risco de desenvolver hemorróidas trombosadas foi estatisticamente significativo (p = 0,029, p = 0,039, respectivamente). Os parâmetros plaquetários avaliados mostraram que, enquanto a Amplitude de Distribuição de Plaquetas (PDW, do inglês platelet distribution width) foi maior no GHT (p = 0,008), nenhuma diferença significativa foi encontrada para todos os outros valores (p > 0,05). A maioria das hemorróidas trombosadas (59,25%) localizava-se na região lateral-dorsal esquerda do ânus. Conclusão: As hemorróidas internas são frequentemente vistas nas idades de 45 a 65 anos com taxas semelhantes em ambos os sexos, enquanto as hemorróidas externas trombosadas ocorrem em uma idade mais jovem (<45) e mais frequentemente em mulheres. Comparando em termos de índices de plaquetas, foi observado que o valor de PDW foi significativamente maior no GHT. Em pessoas jovens, as hemorróidas trombosadas podem se desenvolver com mais frequência, pois o tecido conjuntivo que forma as almofadas anais não é flácido o suficiente para formar uma hemorroida interna, como ocorre com mais frequência em pacientes mais velhos.

Association between Mean Platelet Volume-to-Lymphocyte Ratio and the Presence of Apical Mural Thrombus in Post-Myocardial Infarction Patients

Abstract Background Left ventricular apical thrombus (AT) is generally associated with ischemic and non-ischemic cardiomyopathies. The thrombo-inflammatory process plays an important role in the pathophysiology of acute coronary syndromes and post-myocardial thromboembolic complications. Mean platelet volume (MPV) has been linked to poor prognosis following myocardial infarction. Recently, platelet-to-lymphocyte ratio (PLR) has emerged as a new marker of worse outcomes linking inflammation and thrombosis. Objective We aimed to investigate the prognostic significance of the marker - mean platelet volume to lymphocyte ratio (MPVLR) in patients with AT. Methods Fifty-six patients with left ventricular AT after an anterior myocardial infarction and 51 patients without left ventricular AT after an anterior myocardial infarction were enrolled in this study retrospectively. Admission MPVLR was compared between the two groups. Logistic regression analysis was carried out to identify whether MPVLR is an independent predictor of AT. The receiver operating curve (ROC) analysis was used to show the optimal cut-off for MPVLR to predict AT. P values less than 0.05 were considered statistically significant. Results Age, gender, frequency of diabetes mellitus, hypertension and atrial fibrillation, and ejection fraction values did not differ between the groups. MPVLR was higher in patients with AT than patients without AT (7.91±2.5 vs 5.1±2.1, p<0.001). ROC analysis revealed moderate diagnostic value in predicting the presence of AT with a MPVLR cut-off > 4.75 (82.1% sensivity and 70.2% specifity (area under the curve=0.811, 95% confidence interval [CI]: 0.731-0.891, p<0.001). MPVLR was found to be an independent risk factor for the formation of AT (B:0.441, p.0.001). Conclusion MPVLR is a simple, cheap and easily accessible test that can predict left ventricular AT formation. (Int J Cardiovasc Sci. 2020; [online].ahead print, PP.0-0)

The relationship between epicardial adipose tissue thickness and presence of left atrial thrombus in mitral stenosis patients

Abstract Objective: To examine the relationship between the left atrial (LA) thrombus presence and the epicardial adipose tissue (EAT) thickness. Methods: Three hundred and twelve consecutive rheumatic mitral valve stenosis (RMVS) patients with mitral valve area (MVA) < 2 cm2 were included in this cross-sectional study. Patients were divided into two groups, those with and those without LA thrombus. Routine biochemical analysis and electrocardiographic examinations were carried out. EAT was measured using transthoracic echocardiography. Results: LA thrombus was determined in 84 (26.9%) RMVS patients. In echocardiographic examinations, higher mean gradient and LA diameter as well as lower MVA were found in the group with LA thrombus (P<0.001). In this group, higher C-reactive protein (CRP) and EAT values were also determined (P<0.001). There was significant correlation between EAT and MVA, CRP, LA appendage peak flow velocity, LA anteroposterior diameter, and mean gradient (P<0.001). Higher EAT values were identified as independently associated with the presence of LA thrombus (odds ratio 59.5; 95% confidence interval 12.1-290.10; P<0.001). Conclusion: Transthoracic echocardiography, routinely used in patients with RMVS, can measure EAT to determine patients who are under risk for thrombus.