RESUMO
Charcot foot (CF) is a rare complication of diabetes associated with foot deformities and foot ulcers. Peripheral arterial disease (PAD) is a factor of poor prognosis in patients with diabetic foot ulcers (DFUs). However, PAD has infrequently been studied in CF. We aimed to determine the prevalence, the characteristics and the prognosis of PAD in a large group of patients with diabetic CF. We retrospectively compared 56 patients with diabetic CF to 116 patients with diabetic foot without CF. The prevalence of PAD in patients with CF was 66.1%. Compared to patients without CF, patients with CF had similar risks to have PAD (OR 0.98, 95%CI 0.50-1.94, p= .97) and neuro-ischemic DFUs (OR 1.19, 95%CI 0.57-2.49, p= .65), more risk to have lesions of distal arteries (OR 4.17, 95%CI 1.76-9.94, p= .001) and less risk to need revascularization (OR 0.14, 95%CI 0.06-0.36, p< .001). In patients with CF, PAD was strongly predicted by DFUs (OR 24.55, 95%CI 1.80-334.43, p= .016) and coronary artery disease (OR 17.11, 95%CI 1.75-167.43, p =.015). Survival rate and limb salvage rate in patients with CF were not worsened by PAD and by neuro-ischemic DFUs, respectively. In conclusion, we show that PAD should not be overlooked in patients with diabetic CF, especially in those having DFUs or coronary artery disease. PAD in patients with CF differed from that of patients without CF since it predominated in distal arteries and required less often revascularization.
Assuntos
Diabetes Mellitus , Pé Diabético , Doença Arterial Periférica , Amputação Cirúrgica , Pé Diabético/epidemiologia , Humanos , Doença Arterial Periférica/complicações , Doença Arterial Periférica/epidemiologia , Prevalência , Prognóstico , Estudos RetrospectivosRESUMO
BACKGROUND: Deep venous thrombosis (DVT) is a common postoperative complication in patients undergoing major orthopaedic surgery of the lower limbs, such as total hip or knee replacement (THR, TKR). Routine pharmacological thromboprophylaxis with low-molecular-weight heparin (LMWH) or a direct oral anticoagulant agent is strongly recommended in this setting. THR and TKR as well as ankle arthrodesis are frequently performed in people with haemophilia (PWH) and chronic haemophilic arthropathy. Pharmacological thromboprophylaxis in this population remains controversial. METHODS: We report the results of a single-centre prospective study initiated in 2002 evaluating by systematic Doppler ultrasound the incidence of subclinical DVT in consecutive PWH referred for major orthopaedic surgery and not receiving pharmacological thromboprophylaxis. RESULTS: We included 46 different PWH (39 Haemophilia A, 7 Haemophilia B, 27 severe, 15 moderate and 4 mild forms) undergoing 67 orthopaedic procedures. Most (89.5%) were performed with continuous infusion of clotting factor concentrates. Rehabilitation was usually started on day 1 post-op. No clinical DVT or pulmonary embolism was suspected. In total, there were 5 cases (3 severe, 1 moderate HA and 1 moderate HB) of subclinical DVT which were all distal. Two patients were treated with a short course (10-14 days) of LMWH. The overall incidence of DVT was 7.5%. CONCLUSIONS: These data provide imaging-based evidence that the risk of DVT following major orthopaedic surgery among PWH is low. Identified DVTs were distal and resolved spontaneously in most cases. Systematic pharmacological thromboprophylaxis in this specific population is probably for most patients not required.
Assuntos
Hemofilia A/complicações , Procedimentos Ortopédicos/efeitos adversos , Trombose Venosa/tratamento farmacológico , Adolescente , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Procedimentos Ortopédicos/métodos , Estudos Prospectivos , Adulto JovemRESUMO
BACKGROUND: With the increasing age of acute stroke patients being admitted to hospitals, more data are needed on indications, complications and outcome of endovascular treatment (EVT) in the very elderly. METHODS: Retrospective observational study with data collection from Belgian, Swiss, Canadian comprehensive stroke centers and Swedish EVT National database. All patients with acute ischemic stroke were eligible if aged older than or ≥90 years and treated with EVT ± pretreatment with intravenous thrombolysis (IVT). Safety assessment comprised presence of periprocedural complications, hemorrhagic transformation or other adverse events (<7days). Efficacy and outcome measures were successful recanalization (modified Treatment In Cerebral Infarction (mTICI) score ≥2b), favorable clinical outcome (modified Rankin Score (mRS) 0-2) and 3-months mortality. RESULTS: Inclusion of 112 nonagenarians (mean age 93.3 ± 2.5 years; 76.8% women; pre-mRS ≤2 in 69.4%). Pretreatment with IVT was performed in 54.7%. In 74.6% successful recanalization (mTICI ≥2b) was achieved. Favorable outcome (mRS ≤2) was seen in 16.4% and 3-months mortality was 62.3%. Multivariate logistic regression analysis showed younger age (odds ratio [OR] 2.99; 1.29-6.95; Pâ¯=â¯.011) and lower prestroke mRS (OR 13.46; 2.32-78.30; Pâ¯=â¯.004) as significant predictors for good clinical outcome at 90 days. CONCLUSIONS: Our observational study on EVT in nonagenarians demonstrates the need for careful patient selection. A substantial proportion of nonagenarians shows an unfavorable clinical outcome and high mortality, despite acceptable recanalization rates. A high prestroke disability (mRS) and advancing age predict an unfavorable outcome. Treatment decisions should be made on case-by-case evaluation, keeping in mind limited chances of favorable outcome and high risk of mortality.
Assuntos
Isquemia Encefálica/terapia , Procedimentos Endovasculares , Acidente Vascular Cerebral/terapia , Fatores Etários , Idoso de 80 Anos ou mais , Bélgica , Isquemia Encefálica/diagnóstico , Isquemia Encefálica/mortalidade , Isquemia Encefálica/fisiopatologia , Canadá , Bases de Dados Factuais , Procedimentos Endovasculares/efeitos adversos , Procedimentos Endovasculares/mortalidade , Feminino , Humanos , Masculino , Recuperação de Função Fisiológica , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Acidente Vascular Cerebral/diagnóstico , Acidente Vascular Cerebral/mortalidade , Acidente Vascular Cerebral/fisiopatologia , Suíça , Fatores de Tempo , Resultado do TratamentoRESUMO
BACKGROUND: Renal fibromuscular dysplasia (FMD) is typically diagnosed in young hypertensive women. The 2014 European FMD Consensus recommended screening in all hypertensive women <30 yo. However, the prevalence of renal FMD in young/middle-aged hypertensive women remains unclear. The aim of this work was to assess the prevalence and characteristics of renal FMD in hypertensive women ≤50 yo. METHODS: We retrospectively included all consecutive women aged ≤50 years referred to our Hypertension Unit from 2014 to 2017 and collected standardized information on patient characteristics and screening modalities. RESULTS: Of 1083 incident hypertensive patients, 157 patients fitted with inclusion criteria. The prevalence of renal FMD varied between 3.2% in the whole sample and 7.5% in patients explored by CTA and/or MRA (n = 67). In the subgroup of patients ≤30 yo (n = 32), the corresponding figures were 3.1% and 5.6%. The yearly prevalence of FMD tended to increase over time, in parallel with increased use of CTA/MRA as a first-line imaging modality. Out of 5 patients with renal FMD, 2 were revascularized and 1 had extra-renal FMD. CONCLUSIONS: The prevalence of renal FMD in young/middle-aged hypertensive women is probably one order of magnitude higher than previously assumed, in the range of 3%-8%, depending on imaging modalities. While the diagnosis of FMD does not influence short-term management in all patients, it may allow close monitoring and prevention of complications of the disease over time. This analysis provides the rationale for a prospective, multicentre study aiming at determining the cost-effectiveness of systematic screening for renal FMD.
Assuntos
Displasia Fibromuscular/epidemiologia , Hipertensão/epidemiologia , Obstrução da Artéria Renal/epidemiologia , Adulto , Bélgica/epidemiologia , Comorbidade , Angiografia por Tomografia Computadorizada , Feminino , Displasia Fibromuscular/diagnóstico por imagem , Humanos , Angiografia por Ressonância Magnética , Pessoa de Meia-Idade , Prevalência , Obstrução da Artéria Renal/diagnóstico por imagem , Estudos Retrospectivos , UltrassonografiaRESUMO
We report the case of a 42-year-old patient referred for suspicion of fibromuscular dysplasia in the context of a carotid artery dissection occurring after a minor trauma. Initial complaints included left hemicrania, lateral diplopia with left 6th cranial nerve palsy and pulsatile tinnitus. The work-up disclosed a large left carotid-cavernous fistula, as well as more proximal carotid lesions compatible with multifocal fibromuscular dysplasia. Personal history included colonic and uterine perforation. Family history disclosed a fatal hemorrhage due to rupture of a splenic artery aneurysm in the father and an iliac dissection in the sister. Genetic screening revealed a mutation in exon 6 of the COL3A1 gene in the index patient and her sister, confirming the diagnosis of vascular Ehlers-Danlos syndrome (vEDS). This case report shows that images suggestive of fibromuscular dysplasia may be found in patients with demonstrated vEDS. Furthermore, it reminds that in case of cervical artery dissection occurring in a young patient, all efforts should be made to diagnose the underlying condition. In particular, the existence of a family history of arterial dissection, the occurrence of a carotid-cavernous fistula and coexistence with other complications suggestive of a connective tissue disease should prompt physicians to consider the diagnosis of vEDS.
Assuntos
Dissecção Aórtica , Colo do Útero/irrigação sanguínea , Síndrome de Ehlers-Danlos/diagnóstico , Displasia Fibromuscular/diagnóstico , Adulto , Artérias , Colágeno Tipo III/genética , Diagnóstico Diferencial , Síndrome de Ehlers-Danlos/genética , Feminino , Fístula , Humanos , Anamnese , MutaçãoRESUMO
Background: Although superior vena cava (SVC) stenosis may be a life-threatening complication of haemodialysis (HD) catheters, its prevalence and risk factors in HD patients are unknown. Our aim was to assess the prevalence and risk factors for SVC stenosis in HD patients with a tunnelled cuffed catheter (TCC) and to describe its clinical presentation. Methods: In this single-centre, retrospective cohort study, all in-centre chronic HD patients carrying a TCC (1 January 2008-31 December 2012) were included (n = 117 patients, 214 TCC, 80 911 catheter-days). SVC stenosis was defined as a diameter reduction >50% on phlebography or computed tomography. Imaging was triggered by clinical SVC stenosis syndrome or vascular access (VA)-related concerns. We recorded demographics, conditions potentially influencing catheter permeability (medications, carriage of thoracic devices), number of TCCs, total duration of TCC carriage, previous arteriovenous VA and last (in use at time of stenosis detection) TCC details (location, diameter and length). VAs created while a TCC was still used were also recorded. Results: An SVC stenosis was found in 11 patients (9.4%, 0.14/1000 catheter-days), which represents almost one-quarter of patients undergoing imaging, whatever the cause (11/45). Only two presented with clinically obvious SVC stenosis. The number of TCCs per patient was 2.64 ± 1.8 in the SVC stenosis group versus 1.75 ± 0.94 in the negative group (P = 0.13). On multivariate analysis (Poisson), diabetes {incidence rate ratio [IRR] 4.63 [confidence interval (CI) 1.2-17.8]; P = 0.02} and total duration of TCC carriage [IRR 1.47 (CI 1.2-1.8) per year; P = 0.001] were associated with SVC stenosis, whereas age had a slightly protective effect [IRR 0.96 (CI 0.91-1.01); P = 0.01]. Limitations are the retrospective design, detection and survivor bias. Conclusion: SVC stenosis is not a rare condition, is mostly asymptomatic in the absence of a peripheral VA, is strongly associated with diabetes and is promoted by long TCC carriage. Age is slightly protective.
Assuntos
Cateteres Venosos Centrais/efeitos adversos , Diálise Renal/efeitos adversos , Doenças Vasculares/epidemiologia , Veia Cava Superior , Idoso , Bélgica/epidemiologia , Constrição Patológica/diagnóstico , Constrição Patológica/epidemiologia , Constrição Patológica/etiologia , Feminino , Humanos , Masculino , Flebografia , Prevalência , Estudos Retrospectivos , Fatores de Risco , Fatores de Tempo , Tomografia Computadorizada por Raios X , Doenças Vasculares/diagnóstico , Doenças Vasculares/etiologiaRESUMO
OBJECTIVES: Relatively little is known about the incidence of long-term renal damage after renal denervation (RDN), a potential new treatment for hypertension. In this study the incidence of renal artery and parenchymal changes, assessed with contrast-enhanced magnetic resonance angiography (MRA) after RDN, is investigated. METHODS: This study is an initiative of ENCOReD, a collaboration of hypertension expert centres. Patients in whom an MRA was performed before and after RDN were included. Scans were evaluated by two independent, blinded radiologists. Primary outcome was the change in renal artery morphology and parenchyma. RESULTS: MRAs from 96 patients were analysed. Before RDN, 41 renal anomalies were observed, of which 29 mostly mild renal artery stenoses. After a median time of 366 days post RDN, MRA showed a new stenosis (25-49% lumen reduction) in two patients and progression of pre-existing lumen reduction in a single patient. No other renal changes were observed and renal function remained stable. CONCLUSIONS: We observed new or progressed renal artery stenosis in three out of 96 patients, after a median time of 12 months post RDN (3.1%). Procedural angiographies showed that ablations were applied near the observed stenosis in only one of the three patients. KEY POINTS: ⢠The incidence of vascular changes 12 months post RDN was 3.1%. ⢠No renal vascular or parenchymal changes other than stenoses were observed. ⢠Ablations were applied near the stenosis in only one of three patients.
Assuntos
Obstrução da Artéria Renal/patologia , Artéria Renal/patologia , Simpatectomia/efeitos adversos , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Hipertensão Renovascular/patologia , Hipertensão Renovascular/cirurgia , Rim/inervação , Rim/patologia , Angiografia por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Segurança do Paciente , Simpatectomia/métodosRESUMO
Pseudoaneurysm is a rare complication of ankle sprain, with 18 case reports published in the current literature. In the vast majority of the cases, they were treated surgically. We present 3 cases of pseudoaneurysm following ankle sprain, treated by nonsurgical methods in 2 cases, and spontaneously healed in another. The diagnosis was made between 2 and 4 weeks after traumatism, by ultrasonography and arteriography in 2 cases, and only by ultrasonography in a third case. The pseudoaneurysms originated respectively from the perforating fibular artery, the dorsal pedis artery, and a lateral malleolar artery. Largest diameters of the pseudoaneurysms ranged from 2.4 to 6 cm. Patients were successfully treated by thrombin injection in a case and by coil embolization in another. Spontaneous thrombosis was demonstrated at follow-up in the third case. These cases suggest that a nonsurgical treatment can be considered for pseudoaneurysms complicating ankle sprains.
Assuntos
Falso Aneurisma/terapia , Traumatismos do Tornozelo/complicações , Tornozelo/irrigação sanguínea , Entorses e Distensões/complicações , Trombina/administração & dosagem , Adulto , Idoso de 80 Anos ou mais , Falso Aneurisma/diagnóstico por imagem , Falso Aneurisma/etiologia , Angiografia por Tomografia Computadorizada , Embolização Terapêutica/instrumentação , Feminino , Humanos , Injeções Intra-Arteriais , Masculino , Indução de Remissão , Remissão Espontânea , Estudos Retrospectivos , Fatores de Risco , Fatores de Tempo , Resultado do Tratamento , Ultrassonografia Doppler em Cores , Adulto JovemRESUMO
OBJECTIVE: Previous trials of catheter-based renal-artery denervation (RDN) as treatment modality in resistant hypertension (rHT) generated unconvincing results. In the Investigator-Steered Project on Intravascular Denervation for Management of Treatment-Resistant Hypertension (INSPiRED; NCT01505010), we optimized selection and management of rHT patients. METHODS: With ethical clearance to randomize 18 patients, three Belgian hypertension centers screened 29 rHT patients on treatment with ≥3 drugs, of whom 17 after optimization of treatment (age <70 years; systolic/diastolic office blood pressure (BP) ≥ 140/90 mm Hg; 24-h BP ≥130/80 mm Hg; glomerular filtration rate [eGFR] ≥ 45 mL/min/1.73 m2; body mass index <40kg/m2) were randomized and 15 were analyzed 6 months later, while medical treatment was continued (n = 9) or combined with RDN by the EnligHTN™ multi-electrode system (n = 6). RESULTS: The baseline-adjusted between-group differences amounted to 19.5/10.4 mm Hg (change in control vs. intervention group, +7.6/+2.2 vs. -11.9/-8.2 mm Hg; P = .088) for office BP, 22.4/13.1 mm Hg (+0.7/+0.3 vs. -21.7/-12.8; mm Hg; P ≤ .049) for 24-h BP, the primary efficacy endpoint, and 2.5 mL/min/1.73 m2 (+1.5 vs. -1.1 mL/min/1.73 m2; P = .86) for eGFR, the primary safety endpoint. At 6 month, ECG voltages and the number of prescribed drugs (P ≤ .036) were lower in RDN patients, but quality of life and adherence, captured by questionnaire and urine analysis were similar in both groups. Changes in BP and adherence were unrelated. No major complications occurred. CONCLUSIONS: The INSPiRED pilot suggests that RDN with the EnligHTN™ system is effective and safe and generated insights useful for the design of future RDN trials.
Assuntos
Denervação/métodos , Hipertensão/cirurgia , Rim/inervação , Rim/cirurgia , Adulto , Pressão Sanguínea , Feminino , Taxa de Filtração Glomerular , Humanos , Hipertensão/fisiopatologia , Hipertensão/terapia , Rim/fisiopatologia , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Qualidade de Vida , Resultado do TratamentoRESUMO
UNLABELLED: The SYMPLICITY studies showed that renal denervation (RDN) is feasible as novel treatment for resistant hypertension. However, RDN is a costly and invasive procedure, the long-term efficacy and safety of which has not yet been proven. Therefore, we designed the INSPiRED trial to compare the blood pressure lowering efficacy and safety of RDN vs usual medical therapy. INSPiRED is a randomized controlled trial enrolling 240 treatment-resistant hypertensive patients at 16 expert hypertension centres in Belgium. Eligible patients, aged 20-69 years old, have a 24-h ambulatory blood pressure of 130 mmHg systolic or 80 mmHg diastolic or more, while taking at least three antihypertensive drugs. They are randomized to RDN (EnligHTN(TM), SJM system) plus usual care (intervention group) or usual care alone (control group) in a ratio of 1:1. The primary endpoints for efficacy and safety, measured after 6 months, are the baseline-adjusted between-group differences in 24h systolic blood pressure and in glomerular filtration rate as estimated by the Chronic Kidney Disease Epidemiology Collaboration equation. Follow-up will continue up to 36 months after randomization. INSPiRED is powered to demonstrate a 10-mmHg difference in systolic blood pressure between randomized groups with a two-sided p-value of 0.01 and 90% power. It will generate long-term efficacy and safety data, identify the subset of treatment-resistant hypertensive patients responsive to RDN, provide information on cost-effectiveness, and by doing so INSPiRED will inform guideline committees and health policy makers. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT 01505010.
Assuntos
Hipertensão/cirurgia , Rim/inervação , Rim/cirurgia , Simpatectomia/métodos , Adulto , Idoso , Pressão Sanguínea/fisiologia , Coleta de Dados , Humanos , Hipertensão/fisiopatologia , Pessoa de Meia-Idade , Resultado do Tratamento , Adulto JovemRESUMO
BACKGROUND AND AIMS: Two or more National Institutes of Health Stroke Scale (NIHSS) points on each motor items (A2L2 score) have shown good accuracy in predicting large vessel occlusion (LVO) in the prehospital setting of acute ischemic stroke (AIS) care. We aimed to study this score for LVO prediction in our stroke network and predictors of poor outcome (PO) after mechanical thrombectomy (MT). METHODS: From our Safe Implementation of Thrombolysis in Stroke (SITS) registry including patients receiving reperfusion therapy for AIS, we retrospectively computed the A2L2 score from the admission NIHSS to test the diagnostic accuracy for LVO prediction. Multivariable analysis for independent predictors of LVO on the entire cohort and PO from patients with LVO were performed. RESULTS: From the 853 patients with AIS (67% LVO), A2L2 was positive in 52%. A2L2 score (Odds ratio [OR] 4.6;95%CI 3.36-6.34), smoking (OR 2.1;95%CI 1.14-3.85), atrial fibrillation (OR 1.6;95%CI1.1-2.4) and younger age (OR 0.98;95%CI0.97-0.99) were independent predictors of LVO. A2L2 score showed 82%/49% positive/negative predictive values with 66% accuracy (64%/72% sensitivity/specificity) for LVO prediction. Age (OR 1.05;95%CI 1.03-1.07), atrial fibrillation (OR 4.85;95%CI 1.5-15.7), diabetes (OR 2.62;95% CI 1.14-6.05), dyslipidemia (OR 2;95% CI 1.04-3.87), A2L2 score (OR 2.68;95% CI 1.45-4.98), longer onset-to-groin time (OR 1.003;95% CI 1.001-1.01), MT procedure (OR 1.01;95%CI 1.003-1.02) general anaesthesia (OR 2.06;95% CI 1.1-3.83) and symptomatic intracranial hemorrhage (OR 12.10;95%CI 3.15-46.44) were independent predictors of PO. CONCLUSIONS: A2L2 score independently predicted LVO and PO after MT. Patient characteristics and procedural factors determined PO of LVO patients after MT.
RESUMO
Common capillary malformations are red vascular skin lesions, most commonly associated with somatic activating GNAQ or GNA11 mutations. We focused on capillary malformations lacking such a mutation to identify previously unreported genetic causes. We used targeted next-generation sequencing on 82 lesions. Bioinformatic analysis allowed the identification of 9 somatic pathogenic variants in PIK3R1 and PIK3CA, encoding for the regulatory and catalytic subunits of phosphoinositide 3-kinase, respectively. Recharacterization of these lesions unraveled a common phenotype: a pale capillary malformation associated with visible dilated veins. Primary endothelial cells from 2 PIK3R1-mutated lesions were isolated, and PI3k-Akt-mTOR and RAS-RAF-MAPK signaling were assessed by western blot. This unveiled an abnormal increase in Akt phosphorylation, effectively reduced by PI3K pathway inhibitors, such as mTOR, Akt, and PIK3CA inhibitors. The effects of mutant PIK3R1 were further studied using zebrafish embryos. Endothelium-specific expression of PIK3R1 mutants resulted in abnormal development of the posterior capillary-venous plexus. In summary, capillary malformation associated with visible dilated veins emerges as a clinical entity associated with somatic pathogenic variants in PIK3R1 or PIK3CA (nonhotspot). Our findings suggest that the activated Akt signaling can be effectively reversed by PI3K pathway inhibitors. In addition, the proposed zebrafish model holds promise as a valuable tool for future drug screening aimed at developing patient-tailored treatments.
Assuntos
Capilares , Classe I de Fosfatidilinositol 3-Quinases , Classe Ia de Fosfatidilinositol 3-Quinase , Malformações Vasculares , Peixe-Zebra , Humanos , Classe I de Fosfatidilinositol 3-Quinases/genética , Peixe-Zebra/genética , Capilares/anormalidades , Capilares/patologia , Animais , Classe Ia de Fosfatidilinositol 3-Quinase/genética , Masculino , Feminino , Malformações Vasculares/genética , Malformações Vasculares/patologia , Adulto , Mutação com Perda de Função , Pessoa de Meia-Idade , Células Endoteliais/metabolismo , Células Endoteliais/patologia , Transdução de Sinais/genética , Veias/anormalidades , Veias/patologia , Sequenciamento de Nucleotídeos em Larga Escala , Criança , Adolescente , IdosoRESUMO
Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal-dominant disorder, caused by heterozygous RASA1 mutations, and manifesting multifocal CMs and high risk for fast-flow lesions. A limited number of patients have been reported, raising the question of the phenotypic borders. We identified new patients with a clinical diagnosis of CM-AVM, and patients with overlapping phenotypes. RASA1 was screened in 261 index patients with: CM-AVM (n = 100), common CM(s) (port-wine stain; n = 100), Sturge-Weber syndrome (n = 37), or isolated AVM(s) (n = 24). Fifty-eight distinct RASA1 mutations (43 novel) were identified in 68 index patients with CM-AVM and none in patients with other phenotypes. A novel clinical feature was identified: cutaneous zones of numerous small white pale halos with a central red spot. An additional question addressed in this study was the "second-hit" hypothesis as a pathophysiological mechanism for CM-AVM. One tissue from a patient with a germline RASA1 mutation was available. The analysis of the tissue showed loss of the wild-type RASA1 allele. In conclusion, mutations in RASA1 underscore the specific CM-AVM phenotype and the clinical diagnosis is based on identifying the characteristic CMs. The high incidence of fast-flow lesions warrants careful clinical and radiologic examination, and regular follow-up.
Assuntos
Malformações Arteriovenosas/diagnóstico , Malformações Arteriovenosas/genética , Capilares/anormalidades , Mutação , Fenótipo , Mancha Vinho do Porto/diagnóstico , Mancha Vinho do Porto/genética , Proteína p120 Ativadora de GTPase/genética , Substituição de Aminoácidos , Análise Mutacional de DNA , Feminino , Ordem dos Genes , Estudos de Associação Genética , Humanos , Masculino , Estudos Prospectivos , Estudos RetrospectivosRESUMO
Late thrombosis of the renal graft vein is a rare complication that results in graft loss in the majority of cases. We describe the case of a 57-year-old female patient who had a kidney transplant 32 years ago and developed a late thrombosis of the graft vein, accompanied by extensive thrombosis in the common femoral and iliac veins. Risk factors included severe malnutrition, chronic inflammation due to an anal fistula, and Cockett syndrome. The treatment consisted of mechanical thrombectomy of the iliac vein, placement of a stent in the common iliac vein, partial thromboaspiration of the renal vein thrombus with local thrombolysis, followed by systemic anticoagulation. With this approach, renal function fully recovered without major complications.
La thrombose tardive de la veine du greffon rénal est une complication rare qui conduit à la perte du greffon dans la majorité des cas. Nous présentons le cas d'une femme de 57 ans, transplantée depuis 32 ans, qui a développé une thrombose de la veine du greffon, se manifestant par une insuffisance rénale aiguë anurique. Cette thrombose compliquait une thrombose extensive débutant dans la veine fémorale superficielle et s'étendant dans les veines fémorale commune et iliaque. La patiente présentait plusieurs facteurs de risque de thrombose veineuse, tels qu'un état de malnutrition sévère, une inflammation chronique due à une fistule anale chronique et un syndrome de Cockett. La patiente a été traitée en plusieurs étapes successives : une thrombectomie mécanique de toute la veine iliaque a d'abord été réalisée, suivie de la mise en place d'un stent dans la veine iliaque commune gauche en raison du syndrome de Cockett, puis d'une thrombo-aspiration partielle du thrombus de la veine rénale combinée à une thrombolyse locale (par urokinase) de la veine rénale via un cathéter, et enfin d'une anticoagulation systémique. Cette approche a permis une récupération complète de la fonction rénale sans complication notable. Nous rapportons cette prise en charge in situ d'une thrombose tardive de la veine d'un greffon rénal chez une patiente avec un syndrome de Cockett, ayant permis une issue favorable.
Assuntos
Síndrome de May-Thurner , Trombose , Feminino , Humanos , Pessoa de Meia-Idade , Síndrome de May-Thurner/complicações , Síndrome de May-Thurner/terapia , Veias Renais/diagnóstico por imagem , Trombose/etiologia , Veia Ilíaca/diagnóstico por imagem , Rim , Resultado do TratamentoRESUMO
True aneurysmal degeneration of the inflow artery after arteriovenous fistula ligation is extremely rare. Pain is the most common symptom and surgical treatment by an autologous venous bypass is considered as the treatment of choice with good long-term results. We present a patient with peripheral embolism as first and only symptom leading to the diagnosis of a true aneurysmal degeneration of the entire left radial artery. It was discovered 5 years after the ligation of his radiocephalic fistula. As illustrated by this case, a conservative treatment by antiplatelet and anticoagulation therapy should be considered a satisfying alternative to the standard bypass surgery in patients with anatomical variations (e.g. an incomplete arterial palmar arch) since the latter include a higher risk of postoperative ischemic complications.
Assuntos
Aneurisma , Derivação Arteriovenosa Cirúrgica , Embolia , Fístula , Humanos , Artéria Radial/diagnóstico por imagem , Artéria Radial/cirurgia , Derivação Arteriovenosa Cirúrgica/efeitos adversos , Aneurisma/etiologia , Diálise Renal/efeitos adversos , Resultado do Tratamento , Ligadura/efeitos adversosRESUMO
BACKGROUNDSlow-flow vascular malformations frequently harbor activating mutations in the PI3K/AKT/mTOR cascade. Phase II trials pinpointed sirolimus effectiveness as a drug therapy. Efficacy and safety of sirolimus thus need to be evaluated in large prospective phase III trials.METHODSThe Vascular Anomaly-Sirolimus-Europe (VASE) trial, initiated in 2016, is a large multicentric prospective phase III trial (EudraCT 2015-001703-32), which evaluates efficacy and safety of sirolimus for 2 years in pediatric and adult patients with symptomatic slow-flow vascular malformations. In this interim analysis, we studied all patients enrolled up to October 2021 who received sirolimus for 12 or more months or who prematurely stopped the treatment.RESULTSThirty-one pediatric and 101 adult patients were included in this analysis; 107 completed 12 or more months of sirolimus, including 61 who were treated for the whole 2-year period. Sirolimus resulted in a clinical improvement in 85% of patients. The efficacy appeared within the first month for the majority of them. Grade 3-4 adverse events were observed in 24 (18%) patients; all resolved after treatment interruption/arrest. Sirolimus increased feasibility of surgery or sclerotherapy in 20 (15%) patients initially deemed unsuitable for intervention. Among the 61 patients who completed the 2-year treatment, 33 (54%) reported a recurrence of symptoms after a median follow-up of 13 months after sirolimus arrest. While there was no difference in efficacy, clinical improvement was faster but subsided more rapidly in PIK3CA-mutated (n = 24) compared with TIE2-mutated (n = 19) patients.CONCLUSIONSirolimus has a high efficacy and good tolerance in treatment of slow-flow vascular malformations in children and adults.TRIAL REGISTRATIONClinicalTrials.gov NCT02638389 and EudraCT 2015-001703-32.FUNDINGThe Fonds de la Recherche Scientifique (FNRS grants T.0247.19, P.C005.22, T.0146.16, and P.C013.20), the Fund Generet managed by the King Baudouin Foundation (grant 2018-J1810250-211305), the Walloon Region through the FRFS-WELBIO strategic research programme (WELBIO-CR-2019C-06), the MSCA-ITN network V.A. Cure no. 814316, the Leducq Foundation Networks of Excellence Program grant "ReVAMP" (LFCR grant 21CVD03), the European Union's Horizon 2020 research and innovation programme under grant agreement no. 874708 (Theralymph), the Swiss National Science Foundation under the Sinergia project no. CRSII5_193694, and a Pierre M. fellowship.
Assuntos
Sirolimo , Malformações Vasculares , Adulto , Criança , Humanos , Europa (Continente) , Fosfatidilinositol 3-Quinases , Estudos Prospectivos , Sirolimo/efeitos adversos , Malformações Vasculares/tratamento farmacológico , Malformações Vasculares/genéticaRESUMO
Importance: Spontaneous coronary artery dissection (SCAD) has been associated with fibromuscular dysplasia (FMD) and other extracoronary arterial abnormalities. However, the prevalence, severity, and clinical relevance of these abnormalities remain unclear. Objective: To assess the prevalence and spectrum of FMD and other extracoronary arterial abnormalities in patients with SCAD vs controls. Design, Setting, and Participants: This case series included 173 patients with angiographically confirmed SCAD enrolled between January 1, 2015, and December 31, 2019. Imaging of extracoronary arterial beds was performed by magnetic resonance angiography (MRA). Forty-one healthy individuals were recruited to serve as controls for blinded interpretation of MRA findings. Patients were recruited from the UK national SCAD registry, which enrolls throughout the UK by referral from the primary care physician or patient self-referral through an online portal. Participants attended the national SCAD referral center for assessment and MRA. Exposures: Both patients with SCAD and healthy controls underwent head-to-pelvis MRA (median time between SCAD event and MRA, 1 [IQR, 1-3] year). Main Outcome and Measures: The diagnosis of FMD, arterial dissections, and aneurysms was established according to the International FMD Consensus. Arterial tortuosity was assessed both qualitatively (presence or absence of an S curve) and quantitatively (number of curves ≥45%; tortuosity index). Results: Of the 173 patients with SCAD, 167 were women (96.5%); mean (SD) age at diagnosis was 44.5 (7.9) years. The prevalence of FMD was 31.8% (55 patients); 16 patients (29.1% of patients with FMD) had involvement of multiple vascular beds. Thirteen patients (7.5%) had extracoronary aneurysms and 3 patients (1.7%) had dissections. The prevalence and degree of arterial tortuosity were similar in patients and controls. In 43 patients imaged with both computed tomographic angiography and MRA, the identification of clinically significant remote arteriopathies was similar. Over a median 5-year follow-up, there were 2 noncardiovascular-associated deaths and 35 recurrent myocardial infarctions, but there were no primary extracoronary vascular events. Conclusions and Relevance: In this case series with blinded analysis of patients with SCAD, severe multivessel FMD, aneurysms, and dissections were infrequent. The findings of this study suggest that, although brain-to-pelvis imaging allows detection of remote arteriopathies that may require follow-up, extracoronary vascular events appear to be rare.
Assuntos
Aneurisma/epidemiologia , Dissecção Aórtica/epidemiologia , Anomalias dos Vasos Coronários/epidemiologia , Displasia Fibromuscular/epidemiologia , Doenças Vasculares/congênito , Adulto , Aneurisma/diagnóstico por imagem , Dissecção Aórtica/diagnóstico por imagem , Estudos de Casos e Controles , Angiografia por Tomografia Computadorizada , Anomalias dos Vasos Coronários/genética , Feminino , Displasia Fibromuscular/diagnóstico por imagem , Humanos , Angiografia por Ressonância Magnética , Masculino , Proteínas dos Microfilamentos/genética , Pessoa de Meia-Idade , Prevalência , Reino Unido/epidemiologia , Doenças Vasculares/epidemiologia , Doenças Vasculares/genéticaRESUMO
OBJECTIVE: To evaluate the efficacy and safety of gelified ethanol, a newly developed sclerosing agent for slow-flow vascular malformations. METHODS: Seventy-nine sclerotherapy procedures were performed on 44 patients with 37 venous malformations, 2 glomuvenous malformations, 2 lymphatic malformations, 2 lymphatico-venous malformations, and 1 Klippel-Trenaunay syndrome. The median injected volume was 1.00 mL/site of injection. Effects of sclerotherapy on pain, functional and cosmetic disturbance were statistically evaluated with a final result score. Local and systemic complications were recorded. RESULTS: The mean Visual Analogue Scores were 5.20 ± 2.81 before and 1.52 ± 1.25 after treatment (p < 0.001). Functional and aesthetic improvement was achieved in 31/35 patients (89%) and in 33/41 (80%), respectively. Minor local side effects included necrosis with or without issue of ethylcellulose, palpable residue, and hematoma. No systemic side-effects occurred. CONCLUSION: Per mL used, radio-opaque gelified ethanol is at least as effective as absolute ethanol. No systemic complication was observed, as only a low dose of ethanol was injected. Indications for sclerotherapy can be widened to areas with higher risk for local side effects (hands and periocular region), as ethanol is trapped in the lesion. Careful injection procedure is though necessary, because only a limited amount of ethylcellulose can be used per puncture. Key Points ⢠Development of a new sclerosing agent for venous malformations. ⢠Interesting novel way to deliver alcohol to slow-flow vascular malformations. ⢠Alcohol-based with less local and systemic side-effects.
Assuntos
Celulose/análogos & derivados , Etanol/uso terapêutico , Soluções Esclerosantes/uso terapêutico , Escleroterapia , Malformações Vasculares/terapia , Veias/anormalidades , Adolescente , Adulto , Idoso , Celulose/uso terapêutico , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Síndrome de Klippel-Trenaunay-Weber/terapia , Vasos Linfáticos/anormalidades , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Escleroterapia/métodos , Resultado do Tratamento , Malformações Vasculares/diagnóstico , Veias/patologia , Adulto JovemRESUMO
BACKGROUND: Theragnostic management, treatment according to precise pathological molecular targets, requests to unravel patients' genotypes. We used targeted next-generation sequencing (NGS) or digital droplet polymerase chain reaction (ddPCR) to screen for somatic PIK3CA mutations on DNA extracted from resected lesional tissue or lymphatic endothelial cells (LECs) isolated from lesions. Our cohort (n = 143) was composed of unrelated patients suffering from a common lymphatic malformation (LM), a combined lymphatic malformation [lymphatico-venous malformation (LVM), capillaro-lymphatic malformation (CLM), capillaro-lymphatico-venous malformation (CLVM)], or a syndrome [CLVM with hypertrophy (Klippel-Trenaunay-Weber syndrome, KTS), congenital lipomatous overgrowth-vascular malformations-epidermal nevi -syndrome (CLOVES), unclassified PIK3CA-related overgrowth syndrome (PROS) or unclassified vascular (lymphatic) anomaly syndrome (UVA)]. RESULTS: We identified a somatic PIK3CA mutation in resected lesions of 108 out of 143 patients (75.5%). The frequency of the variant allele ranged from 0.54 to 25.33% in tissues, and up to 47% in isolated endothelial cells. We detected a statistically significant difference in the distribution of mutations between patients with common and combined LM compared to the syndromes, but not with KTS. Moreover, the variant allele frequency was higher in the syndromes. CONCLUSIONS: Most patients with an common or combined lymphatic malformation with or without overgrowth harbour a somatic PIK3CA mutation. However, in about a quarter of patients, no such mutation was detected, suggesting the existence of (an)other cause(s). We detected a hotspot mutation more frequently in common and combined LMs compared to syndromic cases (CLOVES and PROS). Diagnostic genotyping should thus not be limited to PIK3CA hotspot mutations. Moreover, the higher mutant allele frequency in syndromes suggests a wider distribution in patients' tissues, facilitating detection. Clinical trials have demonstrated efficacy of Sirolimus and Alpelisib in treating patients with an LM or PROS. Genotyping might lead to an increase in efficacy, as treatments could be more targeted, and responses could vary depending on presence and type of PIK3CA-mutation.
Assuntos
Síndrome de Klippel-Trenaunay-Weber , Lipoma , Anormalidades Linfáticas , Malformações Vasculares , Classe I de Fosfatidilinositol 3-Quinases/genética , Células Endoteliais , Humanos , MutaçãoRESUMO
Objective: Ectopic pregnancy within Cesarean section scars is a rare condition. Late diagnosis carries significant risk of bleeding with poor prognosis for survival. There is no consensus on the management of this type of pregnancy. Historically, our facility offered an intra-muscular injection of methotrexate that resulted in a significant failure rate and later need for surgery. We hypothesized that injecting methotrexate directly into the gestational sac would improve the success rate of the treatment. Patients and Methods: This retrospective, uni-centric study examined nine patients aged between 33 and 42 years (mean age = 36.5 years) with Cesarean scar ectopic pregnancy (CSEP) between 2010 and 2018. CSEP was diagnosed by transvaginal ultrasound at a mean gestational age of 8w0/7. CSEP was treated under general anesthetic by ultrasound-guided methotrexate injection directly into the gestational sac. HCG levels and subsequent childbearing were monitored post-treatment. Results: Half of the patients were asymptomatic at the time of diagnosis. All patients tolerated treatment well and all ectopic pregnancies were successfully removed. HCG levels returned to negative within 3 months without additional medical or surgical intervention. The post-treatment pregnancy rate was 50%. Discussions/Conclusions: Our findings indicate that local ultrasound-guided injection of methotrexate into the gestational sac is a safe and effective therapeutic approach when performed by a trained team on a hemodynamically stable patient in the early stages of CSEP.