Lésion « pleurale » chez un patient avec antécédent de séminome

We report on the case of a man with a previous history of testicular seminoma and a pathological paravertebral mass definitely taking-up FDG on PET/CT. This mass was finally a benign schwannoma.     

Intérêt du recueil chirurgical de spermatozoïdes déférentiels dans certaines indications masculines de PMA (IAC,FIV)

Two pregnancies have been obtained after assisted procreation using deferential sperm: one by IVF, one by AIC. The indications of this technique are: obstruction of deferens or of ejaculatory ductus, some anejaculations or retrograde ejaculations resistant to classical treatments.     

Les génotypes responsables de mucoviscidose ou d’absence bilatérale des canaux déférents ABCD

Over the last decade, the genetic basis for CBAVD has been identified by its association with CFTR gene mutations, and CBAVD is now generally considered to be a mild or incomplete form of CF. In this review, the author summarizes the main results of compilation of CFTR gene analysis conducted in French laboratories for 3,923 patients with CF and 800 males with CABVD. The degree of clinical expression can be affected by several variables, including the molecular mechanisms by which the various CFTR mutations impair or disrupt the function of the CFTR chloride channel. Phenotypic expression of CFTR mutational genotypes varies from severe, progressive pulmonary disease with pancreatic insufficiency (CF-PI), to mild pulmonary disease with pancreatic sufficiency (PS) or singleorgan forms of “CFTR-opathies”. In CF, a total of 310 different CFTR mutations accounting for 94% of 7,846 CF alleles have generated almost 500 different genotypes, comprising 2 severe mutations in 88% of cases (CF-PI), one severe mutation in trans to a mild mutation in 11% (CF-PS), and 2 mild mutations in 1% of identified genotypes. In CBAVD, 137 mutations scattered over the whole gene were identified in 60% of 1,600 CBAVD alleles during the study. Among the 150 characterized mutational CFTR genotypes, compound heterozygosity was the rule, and the most frequent CBAVD combinations were ΔF508/5T (35%), ΔF508/other mutation (30%, including ΔF508/R117H-7T: 5,6%), and 5T/other mutation (17%). No combination of two severe mutations was found in CBAVD (0%); by contrast with the CF population, 88% of genotypes identified in CBAVD comprised a severe mutation in trans to a mild mutation, and 12% consisted of 2 mild mutations. A total of 22 genotypes were shared by both CF and CBAVD. The role of the 5T allele as a splicing variant with variable, incomplete disease penetrance in CBAVD is reviewed. Other haplotype backgrounds, such as the TG12 sequence and the M470V polymorphism, may influence CFTR splicing and/or function. This study confirms the high molecular heterogeneity of CFTR mutations in CBAVD and emphasizes the importance of extensive CFTR analysis in these patients. Longterm follow-up studies of CBAVD patients are necessary in order to predict the phenotypic consequences of numerous CFTR mutational genotypes.     

Intérêt de l’analyse de la morphologie fine et de la qualité nucléaire des spermatozoïdes dans le cadre des techniques d’AMP

Routine semen examination does not identify minor malformations of the sperm nucleus and chromatin architectural defects, which may be associated with ART outcome and cannot be detected by the embryologist even at 1000x magnification. Recent publications have demonstrated the advantages, compared to routine analysis, of a new method of real-time detailed morphological evaluation of motile spermatozoa: motile sperm organellar morphology examination (MSOME). MSOME is performed with an inverted light microscope equipped with high-power differential interference contrast optics enhanced by digital imaging to achieve a magnification of 10000x. To be considered morphologically normal, a sperm nucleus must have both a normal shape and a normal chromatin content. The aim of the present study was to combine MSOME and sperm DNA fragmentation characteristics to assess reproductive outcome. The study population consisted of the male partners of 52 couples referred for conventional IVF or split cycles (half IVF-half ICSI cycles) and exhibiting normal routine sperm parameters. Spermatozoa were analysed by examining the fine nuclear morphology and DNA integrity using the sperm chromatin dispersion test (SCD test), based on the principle that the deproteinized nuclei of spermatozoa with nonfragmented DNA show extended halos of DNA dispersion that are either absent or only minimally present in sperm nuclei with fragmented DNA. Fertilization rates were significantly lower in the group showing less than 8% of normal spermatozoa according to MSOME criteria, but early embryo development was not affected. Fine sperm morphology correlated with DNA fragmentation rate. These results demonstrate that the assessment of sperm nuclear normality by MSOME analysis and SCD test improves characterization of the semen sample and should be evaluated as a tool for allocating patients to specific assisted reproduction treatments.     

Données descriptives de l’activité d’Assistance médicale à la procréation avec don de spermatozoïdes au sein des CECOS de 1973 à 2006 en France

Introduction

The first CECOS (Centre for study and conservation of human eggs and sperm) was created in 1973 by Georges David and till today, most of the activity of sperm donation in France is managed by the CECOS. This work presents a detailed report of the activity of sperm donation between 1973 and 2006 in this French CECOS network.

Material and methods

Annual activity reports have been compiled by the French CECOS network since 1973. We have collected and analysed these annual reports in order to establish a general estimation of the activity of sperm donation in France during the period of more than 30 years.

Results

Sixty-nine thousand nine hundred forty-five couples asked for assisted reproductive techniques with sperm donation (mainly artificial insemination) to conceive their first child. About 20% of these couples tried to conceive a second or third child. A total of 44,045 children were thus conceived with the effective contribution of 10,347 donors of spermatozoa (out of 16,971 donors who came in the centres for a donation). This report of activity is the largest ever published.     

L’anonymat dans l’insémination avec don de sperme: un regard éthique

Which is the link between secret and anonymity in the case of donor insemination? Do we need to know the name of our donor in order to understand our own personal history? What does the term origin mean? This article aims to analyze such questions from a philosophical point of view, in order to show the difference existing between secret — which concerns conception — and anonymity, which deals with the name of the sperm donor.     

Criblage de nouveaux gènes cibles des récepteurs nucléairesdes oxystérols LXRs impliqués dans le maintien de l’épithélium épididymaire et la maturation des spermatozoïdes dans l’épididyme

Liver X receptors (LXRs) are involved in cholesterol homeostasis and lipid metabolism.Ixr knock-out mice for the two isoformsIxra andIxrb exhibit severe disruption of the structure of caput epididymidis segment 1 and 2 epithelium and increased sperm fragility. These defects generate infertility in 10-month-old male mice. The role of LXRs in the epididymis have not yet been investigated. A cell line obtained from mouse caput epididymidis (B2 cells) was used to screen for LXR epididymal target genesin vitro. The presence of one isoform of LXR (LXRα) was detected by immunocytochemistry and the capacity of B2 cells to respond to a synthetic agonist of LXRs (T0901317) was verified. These results validated the use of B2 cells as a model. Bidimensional electrophoresis was performed on B2 cells treated with T0901317. Eight proteins up-regulated by LXRs were isolated. Only one protein has been identified: polyubiquitin, which has already been reported to be involved in cellular cholesterol homeostasis.     

Performance de la 18FDG-TEP dans le dépistage de paragangliome chez des patients porteurs d’une mutation SDHx

ObjectiveTo evaluate the performance of ¹⁸FDG-PET/CT for detecting infra-clinic paraganglioma (PGL) in SDHx mutation carriers (relatives).Patients and methodsSixty-six patients, from 13 distinct families underwent a genetic testing on the SHD genes between 2003 and 2012. Among the 45 patients with a mutation, 30 with a ¹⁸FDG-PET performed at initial work-up were included in this retrospective study. A gadolinium-enhanced magnetic resonance angiography of the neck (angio-MR) was performed in all cases, a thoracoabdominal-pelvic contrast-enhanced computed tomography (TAP-CT) in 25 cases, a TAP-MR in 20 cases, a ¹²³I-metaiodo-benzylguanidine scintigraphy (¹²³I-MIBG) in 20 cases and a somatostatin receptor scintigraphy (SRS) in 20 cases. Gold standard was histologic or composite (confirmation by another imaging method and follow-up).ResultsA tumor was found in five subjects: 2 abdominal PGL, 1 pheochromocytoma and 2 PGL of the neck. The sensitivity of ¹⁸FDG-PET was 100 %, of SRS was 80 %, of ¹²³I-MIBG was 60 % and of anatomical imaging (association between angio-MR of the neck and TAP-CT and/or TAP-MR) was 100 %. Three false positive lesions were described: 2 with the ¹⁸FDG-PET imaging and 1 with the TAP-MR technique.Conclusion¹⁸FDG-PET/CT is an excellent tool for screening SDHx relatives and should be completed by an angio-MR of the neck if suspicion of abnormality. Association of angio-MR of the neck and TAP-MR has the advantage of being a non-irradiating imaging method but with limited access in some countries.     

L’insémination intrautérine dans l’éjaculation rétrograde. Importance du pH et de l’osmolarité sur la mobilité des spermatozoïdes

The effect of pH and osmolarity on motility of human spermatozoa in retrograde ejaculation was studied in a freshly voided urine specimen. The maximum rate of motility is obtained when the pH ranged from 7.0 to 7.5 and osmolarity from 300 to 400 m.osmol/Kg. Thus the control of these two parameters allowed us to improve sperm motility and to perform intrauterine insemination with ovarian hyperstimulation. The different causes of retrograde ejaculation in this study are diabetes, surgical injury and idiopathic. Fifty-one intrauterine insemination cycles were realized in twenty-three patients, and eleven pregnancies are obtained (21.5% per cycle).     

Intérêt de la TEMP-TDM dans le repérage des métastases chez les patients suivis pour cancer différencié de la thyroïde (À propos d’un cas)

It is very important in the management of patients with differentiated thyroid cancer (CDT) to precisely localize the foci of I-131 uptake, but it is difficult with planar scintigraphy only because of a lack of anatomic landmarks. In this context hybrid-imaging appears to be a preferred technique to overcome this deficiency. We report a case of metastatic follicular thyroid carcinoma (CDT) in which planar scintigraphy diagnosed multiples uptake abnormalities. The foci of I-131 pinpointed in abdominal cavity could not be identified anatomically on whole body scintigraphy. SPECT-CT imaging helped to locate these hot spots and assign them to hepatic localization.     

Le MorphoTEP au FDG est un examen utile dans les cancers différenciés de la thyroïde avec élévation des anticorps antithyroglobuline

AimAssessment of the clinical impact of a PET/CT with FDG for the follow-up of differentiated thyroid cancer (DTC) with rising or positive thyroglobulin autoantibodies (AbTg) level and negative or inconclusive conventional imaging work-up.MethodologyThis retrospective study involves 15 patients seen in follow-up with confirmed DTC primarily treated with total thyroidectomy and Iodine-131. Patients presenting increased AbTg and a negative or non informative conventional workout were included. The results of the PET/CT were correlated with histology and/or clinical follow-up. The clinical impact was determined on a change of intention to treat, which was decided upon in multidisciplinary meetings, based on the PET/CT result.ResultsWe observed 10 true positive exams confirmed via histology in seven patients and via clinical follow-up in three on the average 33 months (20–53 months), three real negative exams with negative follow up of on the average 39.5 months (30–47 months), one false positive and one false negative. The intention to treat was modified in 73.3 % (11/15 patients). PET/CT showed sensitivity, specificity, positive predictive value, negative predictive value and accurancy of 91, 75, 90, 75, 86.6% respectively. There was a large and comparable dispersion of the AbTg values in both the true positive and the true negative groups, the kinetic of AbTg evolution could have a predictive value of a positive PET.Discussion/ConclusionPET/CT with FDG seems to be very useful in the therapeutic management of DTC in the case of AbTg increased or positive, in particular for the patients with N1 in the initial staging. Further studies are suggested to confirm the very promising negative predictive value and specificity of this exam in a larger number of patients.     

Signification d’une hyperfixation prostatique du fluorodésoxyglucose (18F) chez un patient sans antécédent de cancer de la prostate. Cas cliniques,revue et méta-analyse de la littérature

FDG is not suited for the detection of prostate cancer. However, high prostate uptake demonstrated unexpectedly on FDG PET/CT requested for another indication may lead to the detection of prostate cancer, although a non-malignant origin is more common. We report 4 cases of prostate incidentaloma detected on high FDG prostate uptake, corresponding to 4 typical images and circumstances: diffuse uptake, focal uptake with various levels of SUV_max and of serum PSA level assayed on the basis of PET/CT result. We performed a meta-analysis of the 6 series in the literature currently reporting characterisation of prostate incidentalomas, in a total of 47,935 FDG PET, the average frequency of this incidentaloma is 1.5%; it was characterised in 68% of cases, corresponding to cancer in 16% of characterised cases, adenocarcinoma in 75 cases/78. There was no correlation between the Gleason score and the SUV_max; adenocarcinoma Gleason = 6 can be unexpectedly detected with FDG. Among the risk factors for malignancy, there is a SUV_max > 3, a peripheral location within the prostate and no calcification in the hypermetabolic area. Prostate biopsy may be indicated only in case the management of the patient would be modified if prostate cancer is confirmed; it is prompted in the case of clear elevation of serum PSA level, but also when serum PSA level is normal but there is one or several risk factors on FDG PET/CT images.     

Optimisation du protocole d’acquisition de la TEP à la fluorocholine dans la détection des lésions parathyroïdiennes

18F-Fluorocholine (FCH) PET/CT shows very promising potential for detection of hyperfunctioning parathyroid tumors. However, the optimal time to perform imaging after FCH administration has not yet been determined and protocols are highly variable. The aim of this study was to qualitatively and quantitatively compare 5, 10, 15, 20 and 60 min post-injection acquisition times in patients with primary hyperparathyroidism and equivocal traditional imaging. Thirty-one patients were included. Two observers retrospectively analyzed the five protocols. Any focal increase in FCH uptake was localized and graded on a discrete gradation scale between 1 and 5 to assess the likelihood of hyperfunctioning parathyroid tumors. Gold standard was histopathological findings for the 11 operated patients. Regarding quantitative analysis, ratio of SUVmax of parathyroid foci on SUVmean of thyroid background (as signal-to-noise ratio) were compared between protocols. After injection of 2.5 MBq/kg, FCH PET performed 60 min post-injection (2 min) had the best sensitivity and specificity by lesion (92% and 100% respectively and the best signal-to-noise ratio (median of 2). We suggest performing PET scan 60 min after injection, associated with early acquisition so as not to miss a wash-out hyperfunctioning parathyroid tumors.