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Targeted therapy for capillary-venous malformations

Signal Transduction and Targeted Therapy 2024年第7期9卷 3024-3039页

作者： Lola Zerbib Sophia Ladraa Antoine Fraissenon Charles Bayard Marina Firpion Quitterie Venot Sanela Protic Clément Hoguin Amandine Thomas Sylvie Fraitag Jean-Paul Duong Sophie Kaltenbach Estelle Balducci Coline Lefevre Patrick Villarese Vahid Asnafi Christine Broissand Nicolas Goudin Ivan Nemazanyy Gwennhael Autret Bertrand Tavitian Christophe Legendre Nadia Arzouk Veronique Minard-Colin Caroline Chopinet Michael Dussiot denise MAdams Tristan Mirault Laurent Guibaud Paul Isenring Guillaume Canaud UniversitéParis Cité ParisFrance INSERM U1151 Institut Necker-Enfants MaladesParisFrance service d’Imagerie Pédiatrique Hôpital Femme-Mère-EnfantHCLBronFrance CREATIS UMR 5220 Villeurbanne 69100France service de radiologie Mère-Enfant Hôpital NordSaint EtienneFrance service d’Anatomie pathologique Hôpital Necker-Enfants MaladesAP-HPParisFrance Laboratoire d’Oncohématologie Hôpital Necker-Enfants MaladesAP-HPParisFrance Pharmacie Hôpital Necker-Enfants MaladesAP-HPParisFrance Necker Bio-Image Analysis INSERM US24/CNRS UMS 3633ParisFrance Platform for Metabolic Analyses Structure Fédérative de Recherche NeckerINSERM US24/CNRS UMS 3633ParisFrance Plateforme Imageries du Vivant Universitéde ParisPARCCINSERMParisFrance service de Néphrologie Transplantation AdultesHôpital Necker-Enfants MaladesAP-HPParisFrance service de Transplantation Hôpital La PitiéSalpétrièreAP-HPParisFrance department of Pediatric and Adolescent Oncology INSERM 1015Gustave RoussyUniversitéParis-SaclayVillejuifFrance service de Physiologie&Explorations Fonctionnelles Cardiovasculaires CHU de LilleLille 59000France INSERM U1163 Laboratory of Cellular and Molecular Mechanisms of Hematological Disorders and Therapeutic ImplicationsLaboratoire d’Excellence GR-ExParisFrance Division of Oncology Comprehensive Vascular Anomalies ProgramChildren’s Hospital of PhiladelphiaPhiladelphiaPAUSA service de Médecine Vasculaire hôpital Européen Georges-PompidouParisFrance Nephrology Research Group L’Hôtel-Dieu de Québec Research CenterDepartment of MedicineFaculty of MedicineLaval UniversityQuebecQC G1R2J6Canada Unitéde médecine translationnelle et thérapies ciblées Hôpital Necker-Enfants MaladesAP-HPParisFrance CNRS UMR8253 Institut Necker-Enfants MaladesParisFrance

Sporadic venous malformations are genetic conditions primarily caused by somatic gain-of-function mutation of PIK3CA or TEK,an endothelial transmembrane receptor signaling through *** malformations are associated with pain,bleedings,thrombosis,pulmonary embolism,esthetic deformities and,in severe cases,life-threatening *** authorized medical treatment exists for patients with venous ***,we created a genetic mouse model of PIK3CA-related capillary venous malformations that replicates patient *** showed that these malformations only partially signal through AKT *** compared the efficacy of different drugs,including rapamycin,a mTORC1 inhibitor,miransertib,an AKT inhibitor and alpelisib,a PI3Kαinhibitor at improving the lesions seen in the mouse *** demonstrated the effectiveness of alpelisib in preventing vascular malformations’occurrence,improving the already established ones,and prolonging *** these findings,we were authorized to treat 25 patients with alpelisib,including 7 children displaying PIK3CA(n=16)or TEK(n=9)-related capillary venous malformations resistant to usual therapies including sirolimus,debulking surgical procedures or percutaneous *** assessed the volume of vascular malformations using magnetic resonance imaging(MRI)for each *** demonstrated improvement in all 25 *** malformations previously considered intractable were reduced and clinical symptoms were *** showed a decrease of 33.4%and 27.8%in the median volume of PIK3CA and TEK malformations respectively,over 6 months on *** conclusion,this study supports PI3Kαinhibition as a promising therapeutic strategy in patients with PIK3CA or TEK-related capillary venous malformations.

关键词： PIK3CA malformations venous

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Meso-Rex bypass for the management of extrahepatic portal vein obstruction in adults(with video)

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Hepatobiliary & Pancreatic Diseases International 2022年第1期21卷 25-32页

作者： Martin Brichard Samuele Iesari Jan Lerut Raymond Reding Pierre Goffette Laurent Coubeau service de Chirurgie et Transplantation Abdominale Cliniques Universitaires Saint-LucUniversitéCatholique de Louvain10 Avenue HippocrateBrussels 1200Belgium Pôle de Chirurgie Expérimentale et Transplantation Institut de Recherche Expérimentale et CliniqueUniversitéCatholique de LouvainBrusselsBelgium department of Clinical Sciences and Applied Biotechnology University of L’AquilaL’AquilaItaly department of General Surgery and Kidney Transplantation Fondazione IRCCS Ca’Granda Ospedale Maggiore PoliclinicoMilanItaly service de radiologie et Imagerie médicale Cliniques Universitaires Saint-LucUniversitéCatholique de LouvainBrusselsBelgium

Background:Extrahepatic portal vein obstruction(EHPVO)results in severe portal hypertension(PHT)leading to severely compromised quality of ***,pharmacological and endoscopic management is unable to solve this *** hepatic portal flow using meso-Rex bypass(MRB)may solve *** procedure,uncommon in adult patients,is considered the treatment of choice for EHPVO in ***:From 1997 to 2018,8 male and 6 female adults,with a median age of 51 years(range 22-66)underwent MRB procedure for EHPVO at the University Hospitals Saint-Luc in Brussels,***-toms of PHT were life altering in all but one patient and consisted of repetitive gastro-intestinal bleedings,sepsis due to portal biliopathy,and/or severe abdominal *** surgical technique consisted in interposition of a free venous graft or of a prosthetic graft between the superior mesenteric vein and the Rex recess of the left portal ***:Median operative time was 500 min(range 300-730).Median follow-up duration was 22 months(range 2-169).One patient died due to hemorrhagic shock following percutaneous transluminal interven-tion for early graft *** morbidity,defined as Clavien-Dindo score≥III,was 35.7%(5/14).Shunt patency at last follow-up was 64.3%(9/14):85.7%(6/7)of pure venous grafts and only 42.9%(3/7)of prosthetic *** relief was achieved in 85.7%(12/14)who became asymptomatic after ***:Adult EHPVO represents a difficult clinical condition that leads to severely compromised quality of life and possible life-threatening *** such patients,MRB represents the only and last resort to restore physiological portal vein *** successful in a majority of patients,this procedure is associated with major morbidity and mortality and should be done in tertiary centers expe-rienced with vascular liver surgery to get the best results.

关键词： Meso-Rex bypass Extrahepatic portal vein obstruction Extrahepatic portal hypertension Portal vein thrombosis Surgical procedure

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Evaluation of Doppler-ultrasonography in the diagnosis of transjugular intrahepatic portosystemic shunt dysfunction: A prospective study

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World Journal of Hepatology 2017年第27期9卷 1125-1132页

作者： Charlotte Nicolas Amelie Le Gouge Louis d’Alteroche Jean Ayoub Monica Georgescu Vincent Vidal denis Castaing Jean-Pierre Cercueil Patrick Chevallier Jerome Roumy Herve Trillaud Louis Boyer Vincent Le Pennec Christophe Perret Bruno Giraudeau Jean-Marc Perarnau STIC-TIPS group service d’Hepato-Gastroenterologie Hopital TrousseauCHRU Tours CIC CHRU de Tours INSERM United’echographie-doppler Hopital TrousseauCHRU Tours service de radiologie Hopital de la Timone Centre Hepato-Biliaire Hopital Paul Brousse service de radiologie CHRU Dijon service d’Imagerie Medicale Diagnostique et interventionnelle Hopital de l’ArchetⅡNice service de radiologie et Echographie CHRU Poitiers service d’Imagerie Medicale Hopital Saint Andre CHRU Bordeaux service d’Imagerie viscerale et vasculaire CHRU Clermont Ferrand service de radiologie CHRU Caen service de radiologie CHRU Nantes 不详

AIM To prospectively evaluate the performance of Dopplerultrasonography(US) for the detection of transjugular intrahepatic portosystemic shunt(TIPS) dysfunction within a multicenter cohort of cirrhotic *** This study was conducted in 10 french teaching hospitals. After TIPS insertion, angiography and liver Doppler-US were carried out every six months to detect dysfunction(defined by a portosystemic gradient ≥ 12 mm Hg and/or a stent stenosis ≥ 50%). The association between ultrasonographic signs and dysfunction was studied by logistic random-effects models, and the diagnostic performance of each Doppler criterion was estimated by the bootstrap method. This study was approved by the ethics committee of *** Two hundred and eighteen pairs of examinations performed on 87 cirrhotic patients were analyzed. Variables significantly associated with dysfunction were: The speed of flow in the portal vein(P = 0.008), the reversal of flow in the right(P = 0.038) and left(P = 0.049) portal branch, the loss of modulation of portal flow by the right atrium(P = 0.0005), ascites(P = 0.001) and the overall impression of the operator(P = 0.0001). The diagnostic performances of these variables were low; sensitivity was detection of TIPS dysfunction is poor compared to angiography. New tools are needed to improve diagnosis of TIPS dysfunction.

关键词： Transjugular intrahepatic portosystemic shunt Dysfunction Doppler-ultrasonography

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Endovascular Stents in Arterial Injury after Radiotherapy

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Journal of Huazhong University of Science and Technology(Medical Sciences) 1998年第4期18卷 253-256,261页

作者：刘鹏程 PerreaultPierre OtalPhilippe ColombierDanial BerregiJean-Paul BastideCyri1 CercueilJean-Pierre Krausedenis RousseauHelve JoffreFrancis department of Radiology Tongji Hospital Tongji Medical University Wuhan service de radiologie Hopital de Rangueil CHRU de Toulouse France service de radiologie Hbpital Cardiologure CHRU Lille France service de radiologie du Bocage CHRU de Dijon France service et Imagerie Medical Hbpital Gabriel Montpied CHRU de Clermont Fettand France

We evaluated preliminary success and patency of stenting for the treatment of radiation - induced arterial diseases. Thirteen stents were placed in 8 patients to treat occlusion (n = 3), aneurysm (n = 1), residual stenosis (n = 2), multiple stenoses (n = l), and delayed restenosis after previous balloon angioplas-ty (n=l). Interventional procedure was successfully performed in 8 patients for their arterial lesions after radiotherapy. Six patients underwent interventional procedure once or twice. Two patients underwent PTA 4 times. Five of these patients demonstrated primary patency with relief of clinical symptoms with a mean follow-up of 2 years (range: 8 - 60 months). Clinical improvement was noted in the other patients. Our results suggest that stent placement by single or multiple techniques may have immediate effect on arterial lesions caused by radiation and can be considered as a therapeutic option of choice in these cases.

关键词： arteries transluminal angioplasty radiation injurious effect stents and prostheses

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Prevalence and Predictive Factors of Severe Coronary Lesions in Algerian Patients Undergoing Coronary Angiography

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Open Journal of Pathology 2023年第4期13卷 184-194页

作者： Mourad Boukheloua Mohamed Berrehal Aziza Baali Souad Chelghoum Djamaleddine Nibouche service de Cardiologie Centre Hospitalier Universitaire Nafissa Hamoud Algiers Algeria service de Cardiologie Centre Hospitalier Universitaire Sétif Algeria service de radiologie Centre Hospitalier Universitaire Nafissa Hamoud Algiers Algeria service de Néphrologie Centre Hospitalier Universitaire Mustapha Bacha Algiers Algeria

Background: The severity of coronary lesions in patients with coronary artery disease (CAD) has important prognostic and therapeutic consequences. Clinical symptoms not always reflect the disease severity and this study aimed to evaluate coronary lesions in the Algerian population where these data are scarce. Methods: It was a prospective cross-sectional study conducted in consecutive patients with an age ≥20 years who underwent clinically-indicated coronary angiography in our center. The objective of the study was to determine the prevalence of severe coronary lesions assessed with the Gensini score. The predictive factors of severity were evaluated in a multivariate analysis. Results: A total of 507 patients were included (male, 79.7%;mean age, 58.8 years). Coronary angiography was prescribed most frequently for ST-segment elevation myocardial infarction (STMI) (46.9%) and non-STMI (38.1%). The prevalence of severe coronary lesions was 69.6% (95% CI 65.5 - 73.5). In multivariate analysis, the independent predictive factors of severe coronary lesions were male sex (odds ratio [OR] 2.00;p = 0.0141), diabetes (OR 1.92;p = 0.0070), left ventricular dysfunction (OR 1.81;p = 0.0059), age (OR 1.72;p = 0.0297) and no lipid-lowering treatment (OR, 0.47;p = 0.0388). Conclusions: Severe coronary lesions were present in two out three patients in this cohort of Algerian patients undergoing coronary angiography. Independent predictive factors of severe coronary lesions were male sex, diabetes, age, left ventricular dysfunction and no lipid-lowering treatment. It is important to identify these at-risk patients, as they should be explored at an asymptomatic stage before a cardiovascular event and receive prompt treatment with angioplasty or surgery.

关键词： Coronary Artery Disease Coronary Angiography Gensini Score Cardiovascular Risk Factors

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Faecal calprotectin and magnetic resonance imaging in detecting Crohn's disease endoscopic postoperative recurrence

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World Journal of Gastroenterology 2018年第5期24卷 641-650页

作者： Pierre Baillet Guillaume Cadiot Marion Goutte Felix Goutorbe Hedia Brixi Christine Hoeffel Christophe Allimant Maud Reymond Hélène Obritin-Guilhen Benoit Magnin Gilles Bommelaer Bruno Pereira Constance Hordonneau Anthony Buisson Université Clermont Auvergne CHU Clermont-Ferrand Service de radiologie CHU de Reims Service d’Hépato-Gastro Entérologie Université Clermont Auvergne Inserm 3iHP CHU Clermont-Ferrand Service d’Hépato-Gastro Entérologie Université Clermont Auvergne Inserm U1071 CH de Bayonne Service d’Hépato-Gastro Entérologie CHU de Reims Service de radiologie CHU Clermont-Ferrand DRCI Unité de Biostatistiques

AIM To assess magnetic resonance imaging(MRI) and faecal calprotectin to detect endoscopic postoperative recurrence in patients with Crohn's disease(CD).METHODS From two tertiary centers, all patients with CD who underwent ileocolonic resection were consecutively and prospectively included. All the patients underwent MRI and endoscopy within the first year after surgery or after the restoration of intestinal continuity [median = 6 mo(5.0-9.3)]. The stools were collected the day before the colonoscopy to evaluate faecal calprotectin level. Endoscopic postoperative recurrence(POR) was defined as Rutgeerts' index ≥ i2b. The MRI was analyzed independently by two radiologists blinded from clinical *** Apparent diffusion coefficient(ADC) was lower in patients with endoscopic POR compared to those with no recurrence(2.03 ± 0.32 vs 2.27 ± 0.38 × 10^(-3) mm^2/s, P = 0.032). Clermont score(10.4 ± 5.8 vs 7.4 ± 4.5, P = 0.038) and relative contrast enhancement(RCE)(129.4% ± 62.8% vs 76.4% ± 32.6%, P = 0.007) were significantly associated with endoscopic POR contrary to the magnetic resonance index of activity(Ma RIA)(7.3 ± 4.5 vs 4.8 ± 3.7; P = 0.15) and MR scoring system(P = 0.056). ADC 100%(sensitivity = 0.75, specificity = 0.81, PPV = 0.75, NPV = 0.81) were the best cutoff values to identify endoscopic POR. Clermont score > 6.4(sensitivity = 0.61, specificity = 0.82, PPV = 0.73, NPV = 0.74), Ma RIA > 3.76(sensitivity = 0.61, specificity = 0.82, PPV = 0.73, NPV = 0.74) and a MR scoring system ≥ MR1(sensitivity = 0.54, specificity = 0.82, PPV = 0.70, and NPV = 0.70) demonstrated interesting performances to detect endoscopic POR. Faecal calprotectin values were significantly higher in patients with endoscopic POR(114 ± 54.5 μg/g vs 354.8 ± 432.5 μg/g; P = 0.0075). Faecal calprotectin > 100 μg/g demonstrated high perfor

关键词： Faecal calprotectin Magnetic resonance imaging Postoperative recurrence Crohn’s disease Clermont score Magnetic resonance index of activity

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Incomplete Situs Inversus Revealed by Acute Pain of the Right Hypochondrium

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Open Journal of Gastroenterology 2022年第10期12卷 263-270页

作者： Alice Nanelin Guingané Julien Sawadogo Adjirata Koama Bénilde Marie-Ange Tiemtoré-Kambou Roger Sombié Alain Bougouma service d’hépato-gastroentérologie CHU Bogodogo Ouagadougou Burkina Faso service de chirurgie générale et digestive du CHU-YO Ouagadougou Burkina Faso service de radiologie CHU Bogodogo Ouagadougou Burkina Faso service d’hépato-gastroentérologie CHU-YO Ouagadougou Burkina Faso

Situs inversus is an abnormal placement of the thoracic and/or abdominal organs that are inverted right/left from normal. It is a rare congenital malformation often discovered in childhood. In adults, it can lead to misdiagnosis. Clinical case: A 35-year-old female patient, seen in a hepatogastroenterology consultation for acute spontaneous pain in the right hypochondrium. She had no particular clinical history. A diagnosis of hepatopathy was suspected. Abdominal and pelvic CT scans showed the left liver, stomach and spleen in the right hypochondrium, but with the heart in place, suggesting incomplete situs inversus. The evolution in our patient was spontaneously resolved with analgesics and antispasmodics, which leads us to believe that the volvulus was probably partial and without other complications. Conclusion: In developing countries, antenatal diagnosis of situs inversus is rare and is usually made during a pathology that leads the patient to a medical consultation. CT is one of the key paraclinical examinations for its diagnosis as genetic tests are not widely available.

关键词： Situs Inversus Abdominal Pain Hypochondrium Abdominal CT Scan

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Acute ulcerative jejunal diverticulitis:Case report of an uncommon entity

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World Journal of Gastroenterology 2008年第40期14卷 6265-6267页

作者： Wojciech Staszewicz Michel Christodoulou Stefania Proietti Nicolas demartines service de Chirurgie Viscerale Centre Hospitalier Universitaire Vaudois service de radiologie Centre Hospitalier Universitaire Vaudois

Jejunal diverticulosis is a rare entity with variable clinical and anatomical *** reported incidence varies from 0.05% to 6%.Although there is no consensus on the management of asymptomatic jejunal diverticular disease,some complications are potentially life threatening and require early surgical *** report a case of an 88-year-old man investigated for acute abdominal pain with a high biological inflammatory *** of multiple giant jejunal diverticulum was discovered at abdominal computed tomography (CT).As a result of the clinical and biological signs of early peritonitis,an emergency surgical exploration was *** first jejunal loop showed clear signs of jejunal *** segmental jejunum resection with end-to-end anastomosis was *** report confirmed an ulcerative jejunal diverticulitis with imminent perforation and acute local *** patient made an excellent rapid postoperative *** diverticulum is rare but may cause serious *** should be considered a possible etiology of acute abdomen,especially in elderly patients with unusual *** CT is the diagnostic tool of *** best treatment is emergency surgical management.

关键词：空肠憩室憩室炎外科手术 X线断层摄影术

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Gemcitabine in elderly patients with advanced pancreatic cancer

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World Journal of Gastroenterology 2011年第30期17卷 3497-3502页

作者： Olivia Hentic Vinciane Rebours Philippe Lévy Philippe Ruszniewski Pascal Hammel Magaly Zappa Chantal Dreyer Eric Raymond Ple des maladies de l'Appareil Digestif Service de PancréatologieHpital Beaujon100 boulevard du général Leclerc92110 ClichyFrance Ple des maladies de l’Appareil Digestif Service de PancréatologieHpital Beaujon100 boulevard du général Leclerc92110 ClichyFrance service de radiologie Hpital Beaujon100 boulevard du général Leclerc92110 ClichyFrance service de Cancérologie Hpital Beaujon100 boulevard du général Leclerc92110 ClichyFrance

AIM:To assess feasibility,tolerability and efficacy of gemcitabine-based chemotherapy in patients≥75 years old with advanced pancreatic ***:All consecutive patients≥75 years old with advanced pancreatic adenocarcinoma were included in this retrospective *** criteria to receive chemotherapy were:performance status 0-2,adequate biological parameters and no serious *** patients received best supportive care(BSC).RESULTS:Thirty-eight patients(53%women,median age 78 years,range 75-84)with pancreatic cancer(metastatic:n=20,locally advanced:n=18)were *** them,30(79%)were able to receivechemotherapy[median number:9 infusions(1-45)].Six patients(23%)had at least one episode of grade 3 neutropenia and one patient developed a grade 3 hemolytic-uremic *** toxic death *** patients(11%)had a partial tumor response,13(46%)had a stable disease and 12(43%)had a tumor *** survival was 9.1 mo(metastatic:6.9 mo,locally advanced:11.4 mo).CONCLUSION:Tolerance and efficacy of gemcitabinebased chemotherapy is acceptable in elderly patients in good condition,with similar results to younger patients.

关键词：胰腺癌患者晚期老年平均年龄中性粒细胞生物参数耐受性

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Unilateral Femoral Neck Fracture after Epileptic Seizure in Young Patient: A Case Report

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Open Journal of Orthopedics 2020年第8期10卷 166-171页

作者： J. C. Niyondiko P. Hakizimana P. Barasukana S. Manirakiza G. Ndayizeye C. P. Baramburiye S. Nimubona service de Chirurgie Orthopédique et Traumatologie Centre Hospitalo-Universitaire de Kamenge Bujumbura Burundi service de Neurologie Centre Hospitalo-Universitaire de Kamenge Bujumbura Burundi service de radiologie Centre Hospitalo-Universitaire de Kamenge Bujumbura Burundi

Femoral neck fracture occurring after an epileptic seizure is a rare and under-diagnosed injury. The majority of the reported cases in literature are old patients with osteoporosis. Younger patients present several risk factors of osteopenia and the treatment remains controversial. We present an outcome of a 23 years old patient with unilateral femoral neck fracture occurring during an epileptic seizure and we discuss the associated multiple risk factors of osteopenia and osteonecrosis of the hip. The patient was brought to the emergency department of Teaching Hospital of Kamenge (CHUK) complaining of pain in his left hip that had been progressing for one month after an epileptic seizure. There is a history of HIV infection since birth and epileptic seizures with ongoing treatments for both diseases. despite the high risk of avascular necrosis, the treatment choice has been influenced by the patient’s age and a conservative surgery by internal fixation with Dynamic Hip Screw has been made. Unfortunately, this treatment early resulted in osteonecrosis of the hip since HIV infection itself and the highly active anti-retroviral therapy increase its risk.

关键词： Femoral Neck Fracture Epileptic Seizure Osteopenia Internal Fixation

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