Gène CFTR et infertilité masculine en 2001 Conseil génétique, diagnostic prénatal, diagnostic pré-implantatoire

As the vas deferens is also absent in the majority of CF (cystic fibrosis) males, it has been proposed that CBAVD (Congenital Bilateral Absence of Vas Deferens) males may present an incomplete or mild form of CF. Many studies using more extensive mutation analysis have confirmed the role of CFTR gene defects: 80% of CBAVD patients carry one or two mutations. Each patient with a diagnosis of CBAVD should also be examined for pulmonary and pancreatic signs, and sweat tests should be performed. In couples with CBAVD linked to CFTR mutations, the risk of having children with CF or infertility is increased if the female is also a carrier. The woman should be screened for the most frequent CFTR mutations according to her ethnic background. After screening for 80% of the mutations responsible for CF, the residual risk of being a carrier with negative screening is: Z=h(1?a)/(1?ah)=1/120 considering a carrier frequency of 1/25 in the general population. In the case of positive screening, antenatal diagnosis by chorionic villus sampling may be proposed. However, in some situations it is difficult to predict the phenotypic consequences for the child, particularly when a severe transmutation of a variable allele is identified. As these couples require medically-assisted reproduction techniques, pre-implantation genetic diagnosis appears to be more appropriate than antenatal diagnosis. Only embryos that inherit the non-mutated maternal CFTR allele are replaced in the uterus. Examination of childre born to couples with CBAVD is mandatory: immunoreactive trypsinogen assay at 3 days of age, sweat test at 3 months and clinical examination, especially looking for signs of CF. Identification of CFTR mutations in a CBAVD patient has important consequences for his family. Each sibling has a 50% risk of being a carrier and a 25% risk of inheriting the same genotype. The genetic counsellor must inform these siblings about the possible risk of having CF children if they carry CFTR mutations and if their partner is also a carrier.     

Importance de l’étape pré-analytique en spermiologie pour le diagnostic et l’évaluation des thérapeutiques

Semen analysis is subject to great variability, partly due to the mechanism of ejaculation. This variability can be reduced by taking certain precautions, such as interviewing the patient to eliminate any external factor of variability, by imposing a 3- to 5-day period of sexual abstinence, by explaining the procedures to avoid bacterial contamination of the sample, by verifying whether the whole semen sample has been collected, by checking that the temperature of the sample is maintained at 37°C and finally, by carefully homogenising the sample to obtain good quality liquefaction.     

Impact clinique et thérapeutique de l’acquisition corps entier en TEP/TDM au 18F-FDG chez les patients suivis pour mélanome malin

ObjectiveTo assess the added benefit of scanning lower limbs in addition to usual whole-body PET/CT scan in patients with no known or suspected primary or metastatic melanoma involving the lower limbs.Materials and methodsThis is a retrospective study of 133 consecutive patients (189 FDG PET/CT) who underwent FDG PET/CT for staging of melanoma at different time points in the course of disease from October 2005 to July 2009 at Brest University Hospital. Reports of whole-body PET/CT scans including lower limbs were reviewed. PET/CT abnormalities on the lower extremities were tabulated by location and correlated with pathology, other imaging studies and at least a 6-month clinical follow-up.ResultsAmong the 189 consecutive PET/CT scans performed in 133 patients, 34 scans in 29 patients highlighted abnormal FDG uptakes considered as equivocal or suggestive of malignancy on lower limbs. In 29 cases, uptakes were located both on lower limbs and on the rest of the body (lung, liver, mediastinal and sub-diaphragmatic lymph nodes, adrenal glands, bone) corresponding to disseminated disease. In five cases, PET/CT uptakes were located only on lower limbs; each pathological uptake corresponded to benign lesions. Lower limbs findings never impacted clinical and therapeutic decision.ConclusionLower limbs additional PET/CT acquisition appears to offer poor additional benefit with no unexpected solitary lesion detected and routine skull base to upper thigh images may be sufficient for this subset of patients.     

Intérêt de la TEP au 18F-FDG préthérapeutique pour prédire la réponse à la radio-immunothérapie dans les lymphomes non hodgkiniens

PurposeRadioimmunotherapy (RIT) is a new treatment option for patients with non-Hodgkin lymphoma (NHL). Response to RIT currently remains difficult to predict using conventional prognostic factors and could be refined using functional imaging. The goal of this work is to evaluate the value of 18F-fluorodeoxyglucose (FDG) positron emission tomography (PET) in predicting response to yttrium 90-labeled monoclonal antibodies for patients with NHL.MethodThirty-five patients with NHL who had undergone 18F-FDG PET prior to RIT with either 90Y-ibritumomab tiuxetan or 90Y-epratuzumab tetraxetan were included in this retrospective study. Four functional criteria (SUVmax, SUVmean, volume and the product of the volume and the SUVmean-TLG-) were analyzed on a per-lesion basis.ResultsA total of 154 lesions were analysed. The per-lesion analysis revealed significant differences (P < 0.05) between responders and non-responders for several criteria and above all for the SUV.ConclusionOur results suggest a predictive role of 18F-FDG PET prior to RIT by giving a useful indication of the radiosensitivity of the lymphoma.     

Prise en charge thérapeutique des métastases osseuses en radiologie interventionnelle

A wide range of interventional radiology methods is currently available for the management of bone metastasis disease. Indications should be discussed in pluridisciplinary staff, depending of therapeutic intent (curative or palliative), risk of fracture, and general status of the patient. The aim of this article is to present these techniques. Cementoplasty, defined by percutaneous injection of polymethylmethacrylate into bone metastases, is used to relieve pain and prevent pathological fractures. Thermal ablation techniques are applied to achieve partial or complete destruction of bone lesions, by increasing (radiofrequency and micro-waves) or decreasing (cryoablation) intratumoral temperature. Arterial embolization and chemoembolization are used to reduce blood supply of bone tumors, in order to manage pain or before orthopedic surgery of hypervascular lesions. For the most complexes cases, combined treatment can be proposed.     

L’éléphantiasis pénoscrotal, diagnostic et prise en charge: à propos de trois cas

Penoscrotal elephantiasis is a rare disease outside areas where filariasis is endemic. It is a benign disease but can become disabling in that it can make sexual relations difficult and sometimes even affect urination. We report three cases of primitive penoscrotal elephantiasis treated with complete surgical resection of pathological tissue and penoscrotal reconstruction, with good functional and aesthetic results. We update, through our own experience and a review of the literature, aspects of the diagnostic and therapeutic care of penoscrotal elephantiasis.     

Le diagnostic et le suivi thérapeutique des tumeurs cérébrales intra-parenchymateuses par l’imagerie par résonance magnétique multimodale

The multimodal magnetic resonance imaging (MMRI) has an important role in cancer care. This non-invasive and non-ionizing technique provides vital information for the diagnosis and answers to various questions of clinicians before, during and after treatment. The MMRI can specify the localization expanding process; it allows establishing the differential diagnosis of a brain tumor and a circumscribed lesion of another type, to approach the diagnosis of the tumor lesion nature as well as establishing the histological grade of glial tumor in view of lesion monitoring after treatment. The multimodal magnetic resonance imaging has a major contribution to the management progress of the brain tumors. Thus, this paper reviews the value of these MRI modalities in the diagnosis, management and therapy of brain tumors.     

Cinétiques de la fixation du 18F-FDG dans les structures cérébrales : faisabilité et résultats préliminaires

ObjectDynamic positron emission tomography (dyn-PET) acquisitions using the radiotracer ¹⁸F-deoxyglucose (¹⁸F-FDG) are mainly developed in research studies of brain PET in kinetic modelling to determine the local glucose consumption rate. This procedure is difficult to establish, due to its requirement for blood sampling. Here, we propose a simple approach to constructing time–activity curves (TACs) for four different brain structures (the arterial & venous regions and grey & white matter) based on direct image measurements on chronologically reconstructed image volumes of regions of interest.Materials and methodsWe applied our processing on 14 control subjects to extract their physiological state. We defined the reference ¹⁸F-FDG kinetic curves as a “population averaged TAC” for four structures. To increase the curves accuracy, our method included the evaluation of two normalization based on the integral of the activity curve in the arteries and the veins.ResultsThe method showed discrimination between artery, venous, grey and white matters. The two normalization methods significantly reduce the dispersion for the grey and white matter curves and that venous normalization showed the best overall efficiency.ConclusionWe have designed and evaluated an approach for directly defining PopAv_TACs which are representative of given anatomical structures.     

Apport de la TEP/TDM au 18FDG dans la stadification initiale et l’évaluation précoce de la réponse thérapeutique des rhabdomyosarcomes pédiatriques

PurposeThe objective of this study was to retrospectively evaluate the impact of positron emission tomography/computed tomography (PET/CT) using fluorine-18-fluorodeoxyglucose (FDG), in comparison with conventional imaging modalities (CIM), for initial staging and early therapy assessment in paediatric rhabdomyosarcoma.Patients and methodsPrior to treatment, 18 patients (age range, 9 months to 18 years) with histologically proven rhabdomyosarcoma underwent FDG PET/CT in addition to CIM (magnetic resonance imaging of primary site, whole body CT and bone scintigraphy). After three courses of chemotherapy, 12 patients underwent FDG PET/CT in addition to CIM. RECIST criteria and visual analysis of FDG uptake were used for assessment of response. The standard of reference was determined by an interdisciplinary tumor board based on imaging material, histopathology and follow-up data (median = 5 years).ResultsPET/CT sensitivity was superior to CIM's concerning lymph node involvement (100% versus 83%, respectively) and metastases detection (100% versus 50%, respectively). PET/CT results changed therapeutic management in 11% of cases. After three courses of chemotherapy, the rate of complete response was 66% with PET/CT versus 8% with CIM. Five percent of patients relapsed during follow-up (median = 5 years).ConclusionThis study confirms that PET/CT depicts important additional information in initial staging of paediatric rhabdomyosarcomas and suggests a superior prognostic value of PET/CT in early response to chemotherapy assessment.     

MITICAO : mesures et interventions pour une thérapeutique innovante du cartilage assistée par ordinateur

Cartilage diseases represent a major Public Health problem that will worsen due to the ageing of the population and the obesity epidemic. The development of new diagnostic and therapeutic strategies therefore appears to be essential to address this issue. The research project “Computer Assisted Measures and Interventions for Innovative Therapeutic of Cartilage Diseases” (ANR-08-TECS-010) led to the development of a new medical device dedicated to the therapy of the cartilaginous tissue: a navigated multimodal arthroscopic environment. It combines MRI (or arthro-CT) with video and ultrasound. The first preclinical evaluations in humans have demonstrated the feasibility to objectively quantify in a reproducible way clinical parameters of a new cartilage tissue quality. The first clinical evaluations are now to consider.