Cystic fibrosis transmembrane conductance regulator mutations and polymorphisms associated with congenital bilateral absence of vas deferens in a restricted group of patients from North Africa.

BACKGROUND: Congenital bilateral absence of vas deferens (CBAVD) is responsible for 2-6% of male infertility. It occurs in 95% of men with cystic fibrosis. This malformation is present in patients with a sterile obstructive azoospermia but without clinical evidence of cystic fibrosis. Molecular study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene responsible for cystic fibrosis could show the relationship between this disease and bilateral absence of vas deferens. PATIENTS AND METHODS: The study involved 20 male patients aged between 28-40 years, referred with suspected cystic fibrosis and in whom bilateral absence of vas deferens was confirmed by cyto-biochemical analyses and urogenital ultrasound. Molecular study of the CFTR gene was based on several techniques: DHPLC, DGGE and direct sequencing. RESULTS: Thirteen patients had CFTR mutations: F508del, G542X, W1282X, E1104X, 711+1G → T, V201M (TG) m and IVS8-5T. These mutations were associated with polymorphisms: M470V and D1270N. Seven cases presented only polymorphisms. CONCLUSION: The different mutations found in this study were associated with polymorphisms which decrease the severity of the disease and delay its onset. Thus, bilateral agenesis of the vas deferens is classed as a form of cystic fibrosis with only genital expression.

COVID-19 and andrology: Recommendations of the French-speaking society of andrology (Société d'Andrologie de langue Française SALF).

SARS-CoV-2 (severe acute respiratory syndrome coronavirus 2) metamorphosed our medical practice. In early June 2020, more than 6,400,000 COVID-19 (coronavirus-19 disease) cases were diagnosed across the world and more than 380,000 deaths were linked to COVID-19. Many medical symptoms of COVID-19 were reported. We will focus, here, on potential impacts of COVID-19 on men's andrological health. Our society (French-speaking society of andrology, SALF) also emitted some recommendations in the andrological management of men infected by SARS-CoV-2. First, considering the fever and the potential presence of SARS-CoV2 in semen, SALF recommends waiting for 3 months (duration of one spermatogenesis cycle and epididymal transit) before re-starting ART in the case of men diagnosed COVID-19 positive. Whatever the nature of testosterone and COVID-19 relationships, we recommend an andrological examination, sperm parameters, and hormonal evaluation at the time of the COVID-19 is diagnosed, and several months later. Furthermore, we are concerned by the potential morbid-mortality of the COVID-19, which mainly affects men. This "andrological bias", if proven, must be reduced by specific andrological diagnosis, therapeutic and prophylactic measures. Research in this direction must be substantiated and financially supported over the next few months (years).

Le SRAS-CoV-2 (nouveau coronavirus ou coronavirus numéro 2 responsable du syndrome respiratoire aigu sévère) a métamorphosé notre pratique médicale. Début juin 2020, plus de 6,400,000 cas de COVID-19 (maladie à coronavirus 2019) ont été diagnostiqués dans le monde et plus de 380,000 décès ont été reliés à cette maladie. De nombreux symptômes médicaux de cette infection virale ont été signalés. Nous nous concentrerons, ici, sur les impacts potentiels de COVID-19 sur la santé andrologique des hommes. Notre société (Société d'andrologie de langue Française, SALF) émet ici quelques recommandations dans la prise en charge andrologique des hommes infectés par le SRAS-CoV-2. Tout d'abord, compte tenu de la fièvre et de la présence potentielle du SRAS-CoV2 dans le sperme, la SALF recommande d'attendre 3 mois (durée d'un cycle de spermatogenèse et transit épididymaire) avant de recommencer les techniques d'assistance médicale à la procréation pour les hommes diagnostiqués COVID-19 positifs. Quelle que soit la nature des relations entre la testostérone et l'infection à SARS-CoV-2, nous recommandons un examen andrologique, un examen des paramètres du sperme et une évaluation hormonale au moment du diagnostic de l'infection, ainsi qu'à distance (3­6 mois plus tard). De plus, nous sommes préoccupés par la morbidité et la mortalité potentielles de l'infection COVID-19, qui touche principalement les hommes. Ce "biais andrologique", s'il est. prouvé, doit être réduit par un diagnostic andrologique spécifique et des mesures thérapeutiques et prophylactiques. La recherche dans ce sens doit être étayée et soutenue financièrement au cours des prochains mois (années).

[Intracytoplasmic sperm injection (ICSI) in the management of azoospermia]. / L'injection intra cytoplasmique de spermatozoïdes (ICSI) dans la prise en charge des azoospermies.

OBJECTIVES: The objective of this study was to analyse all attempts of ICSI performed in our centre between 1995 and 1997 with surgically harvested sperm for the treatment of secretory and excretory azoospermia. MATERIAL AND METHODS: 71 infertile couples, in which the man suffered from secretory (n = 8) or excretory azoospermia (n = 63), were managed with 94 attempts of ICSI. RESULTS: ICSI was able to be performed 85 times with 82 embryo transfers resulting in 29 clinical pregnancies. The clinical pregnancy rate per ICSI attempt was comparable with sperm obtained on the day of ICSI or previously harvested and frozen (30.5% and 31.4% respectively). The clinical pregnancy rate per ICSI attempt was 33.3% for testicular sperm (n = 18), and 30.3% for epididymal sperm (n = 76). Twenty-seven clinical pregnancies (32.1%) were obtained for men with excretory azoospermia (47.2% for vas deferens agenesis and 20.8% for acquired urinary tract obstruction, p = 0.01), and 2 (20%) for men with secretory azoospermia. CONCLUSION: ICSI can achieve pregnancy in infertile couples in whom no other solution can be considered. Cryopreservation allows surgical harvesting to be dissociated from ICSI without decreasing the pregnancy rate, justifying freezing of sperm during any surgical procedure on the seminal tract. The better results obtained in congenital excretory azoospermia compared to acquired obstructions, usually post-infectious, suggest a harmful effect of infection on the quality of sperm.

[Intracardiac thrombosis during celiac disease]. / Thrombose intracardiaque au cours d'une maladie cœliaque.

Thrombotic events occurring in the course of celiac disease are frequently reported in the literature. The localization is often unusual, mainly affecting the hepatic veins. To our knowledge, this is the first report of intracardiac thrombosis occurring in a patient with celiac disease. A 32-year-old patient with celiac disease adhered poorly to his gluten-free diet. He suffered an ischemic stroke revealing an intracardiac thrombus, which, on radiological imaging, simulated a multiple myxoma. Histological examination of the resected tumor enabled the correct diagnosis. Biological findings revealed severe protein C and S deficiency. The patient improved with anticoagulant therapy and gluten-free diet.

[Functional and metabolic results of 24 Bordeaux-type bladder replacements following total prostato-cystectomy with a more than 2 years follow-up]. / Etude des résultats fonctionnels et métaboliques de 24 remplacements vésicaux après prostatocystectomie totale type vessie de Bordeaux avec un recul de plus de deux ans.

In March 1985, we realised the first Bordeaux neo-bladder, with detubularized ileo-colic segment (15 cm of ascending colon and 20 to 25 cm of ileum). The urethra is anastomosed at the lowest point of the caecum. 61 male patients underwent total replacement of the bladder, and we analyse the results in 24 of them, with a follow up more than 2 years. The following results were noted: the sensation of voiding is always physiological, daytime continence is quite perfect, while nighttime continence is good for 71% of patients, the filling pressure of the neobladder is low with a maximum of 20 cm H 0 (range 5-20 cm H20), and its capacity ranged from 300 ml to 400 ml, the mean flow rate is 21 ml/s. We encountered no complication, nothing but 2 gall-stones and two patients with low vitamin B 12. We didn't note neither diarrhea, nor hyperchloremic acidosis. All patients maintained normal renal function. Initially, the indication of Bordeaux ileo-colic neobladder was limited to bladder replacement after cysto-prostatectomy for bladder cancer. Now, the good results obtained, and their durability without any major complication allow us to extend our indications to bladder enlargements in neurogenic bladders.

[Therapeutic strategy apropos of 122 cases of early disclosed traumatic rupture of the urethra]. / Stratégic thérapeutique à propos de 122 observations de rupture traumatique de l'urètre vue tôt.

When ureteral rupture is suspected after trauma with fracture of the pelvis, insertion of a suprapubic catheter is required as an emergency measure. Ureteral lesions must be repaired early by the 5th to 10th day after trauma. Pyelography or retrograde ureterography is required to determine whether there is total or partial rupture and the degree of damage is identified endoscopically. We operated 73 total ruptures in deferred emergency situations (58 transpubic, 14 perineal approaches) and achieved good results in 80%. There were also 41 partial ruptures treated with an indwelling catheter in which 21 developed strictures requiring secondary uretrotomy. In three particular situations (anorectal damage, infected perineal wound, polytrauma with head trauma), in 8 patients were managed with suprapubic drainage alone before repair 3 months later. Different complications, including stricture and impotency were observed.