[Genetic aspects of male infertility: From bench to clinic]. / Aspect génétique de l'infertilité masculine : de la recherche à la clinique.

OBJECTIVES: The objective of our manuscript is to review the current state of research on the genetics of male infertility, highlighting the genetic abnormalities that can lead to non-syndromic male infertility and genetic testing proposed to patients. It is intended primarily for clinicians and biologists of reproductive medicine. METHODS: A comprehensive review of the scientific literature available on PubMed was conducted using keywords related to male infertility and genetics. Since the first genes related to non-syndromic male infertility were identified after the 2000s, bibliographic research was conducted after this date. RESULTS: Thirty-three genes have been identified as responsible for non-syndromic male infertility. The evolution of techniques based on whole genome analysis has allowed the development of more successful methods in the identification of new genes and mutations inducing an infertility phenotype. Through this article, we propose, by concrete examples, a clinical approach for genetic tests considering the semen analysis alterations. CONCLUSIONS: The identification and characterization of these genes and the mutations responsible for certain infertility phenotypes allow better management and better treatment for patients as well as a better understanding of the physiopathological mechanisms of human gametogenesis.

Spontaneous cholesteatoma of the external auditory canal: the utility of CT.

Spontaneous external auditory canal (EAC) cholesteatoma is a rare disease. The symptoms are nonspecific. It is diagnosed by clinical examination and radiological investigation. The clinical examination alone is often insufficient for accurately assessing spread of the cholesteatoma into the temporal bone, meaning cross-sectional imaging modalities are required, and specifically computed tomography. We report three cases of spontaneous cholesteatoma of the external auditory canal. All of our patients underwent surgery. In two cases, the cholesteatoma was restricted to the external auditory canal, while in one case, it was complicated by a fistula with the lateral semicircular canal. Good anatomical and functional results were obtained in all three cases, with the external auditory canal patent and a good calibre on completion.

Liposarcoma of the extremities: MR imaging features and their correlation with pathologic data.

OBJECTIVE: To describe the MRI features of liposarcomas of the extremities and correlate them with data from the histologic subtypes. MATERIAL AND METHODS: Retrospective study of 20 cases of liposarcoma of the extremities identified on MRI, surgically removed and confirmed at pathology. On MRI examination, T1- and T2-weighted fat-suppressed and non-fat-suppressed images were acquired then gadolinium-enhanced fat-suppressed T1-weighted images were obtained in at least two orthogonal planes. RESULTS: Sixteen female and four male patients aged 12 to 77 years old at presentation, in 16 cases, with a slowly enlarging painless mass (demonstrating no associated local or general inflammatory components), located in the lower extremity (16 cases) and predominantly located in the thigh (13 cases). Pathologic examination revealed three cases of well-differentiated liposarcoma, 12 cases of myxoid liposarcoma one of which with round cells, three cases of pleomorphic liposarcoma, one case of dedifferentiated liposarcoma and one case of mixed-type liposarcoma. MR images mostly showed well-circumscribed tumors (19 cases) . Well-differentiated liposarcomas typically demonstrated a very specific diagnostic appearance as a predominantly adipose mass containing nonlipomatous components seen as thick septa that may show nodularity. Other subtypes of liposarcoma demonstrated a small amount of adipose tissue thus producing a marbled textural pattern on T1-weighted images particularly in myxoid liposarcomas (9 cases), or even nonlipomatous elements in high-grade liposarcomas (in round cell liposarcoma and in two out of three pleomorphic liposarcomas). The myxoid subtype has also a relatively characteristic appearance as a low signal intensity noted on T1-weighted images and a marked high signal intensity on T2. The dedifferentiated liposarcoma has a very specific radiologic appearance as a nonlipomatous component within a predominantly adipose mass, simulating that of well-differentiated liposarcomas. CONCLUSION: MRI of extremity liposarcomas is a highly reliable and sensitive method to characterize liposarcomas. Besides its value in the diagnosis of liposarcoma and locoregional extension control, it allows proper identification of the specific histologic subtypes of liposarcoma. LEVEL OF EVIDENCE: Level IV. Rétrospective diagnostic study.

[Magnetic resonance imaging features of cystic meningiomas. Report of four cases]. / Aspects en imagerie par resonance magnetique des méningiomes kystiques. A propos de quatre cas.

Four cases of cystic meningioma are reported, and the imaging features and diagnostic pitfalls of cystic meningiomas are reviewed. Cystic meningiomas are infrequent tumors and remain difficult to diagnose in spite of advanced imaging techniques. Our patients were between 15 and 58 years of age, and underwent CT and MR imaging. In all the four cases, the meningiomas were supratentorial and included Nauta type I, type II and type III tumors.

Reproductive toxicity of DDT in adult male rats.

The reproductive toxicity of DDT was investigated in adult male rats exposed to 50 and 100 mg/kg body weight (b.wt) day(-1) for 10 successive days. Compared with control animals, administration of DDT led to a dose-dependent reduction of testicular weight and the number as well as the percentage of motile spermatozoa in the epididymis. Testicular histological observations revealed also a marked loss of gametes in the lumen of seminiferous tubules. In DDT-treated rats, the seminal vesicles weights dropped significantly, resulting from a decrease of testosterone production by testes, whereas serum LH and FSH increased after pesticide exposure. This increase of gonadotrophin levels may be related to an impairment of the negative feedback exerted by the steroid on the hypothalamic--pituitary axis. It is concluded that DDT induced adverse effects on male rat fertility by acting directly on the testes and altering the neuroendocrine function.

Acute hepatotoxicity of DDT: effect on glucocorticoid receptors and serum transcortin.

The hepatotoxic effect of 1,1 bis (p-chlorophenyl) 2,2,2 trichloroethane (DDT) treatment for 10 consecutive days has been examined in Wistar rats. DDT exposure increased relative liver weight, dose dependently, with a marked decrease of glycogen content and profound histological changes including cytoplasmic vacuolization, signs of necrosis and nuclear enlargement. The hepatomegaly induced by DDT (50 and 100 mg/kg body weight day-1) appeared not to be accompanied by a significant alteration of the hepatic glucocorticoid receptor concentration and affinity while, serum corticosteroid binding globulin level increased slightly with the lower dose of the pesticide. It is concluded that a short-term exposure to DDT did not lead to a status stress and, therefore, the hepatotoxic effect of organochlorine seemed not to be mediated by endogenous glucocorticoids.

[Implication of type II glucocorticoid receptors in aldosterone induced apoptosis of rat thymocytes]. / Implication des récepteurs glucocorticoïdes de type II dans l'action apoptotique de l'aldostérone sur les thymocytes de rat.

The thymolytic action of dexamethasone (DEXA) and aldosterone (ALDO) has been studied in vitro and in vivo. In vitro, in the presence of DEXA, the number of apoptotic cells increased with time. After 6 hours of incubation, 55 and 86% of thymocytes are dead with 10(-7) and 10(-5) M of DEXA, respectively. Whereas, in the presence of equivalent concentrations of ALDO, the rate of mortality of cells was only 30-40%. In vivo study confirmed these results and showed that apoptotic action of ALDO remained less potent than that of DEXA. On the other hand, addition of the potent glucocorticoid antagonist, RU 38486 prevents not only the dexamethasone but also the aldosterone-stimulated cell death. We conclude that the thymolytic action of the endogenous mineralocorticoid hormone is not mediated by its specific receptor but paradoxically by type II glucocorticoid receptor.

[A physico-chemical analysis of glucocorticoid receptors in corticosensitive and corticoresistant thymocytes: decrease in nuclear transfer]. / Analyse physico-chimique des récepteurs glucocorticoïdes des thymocytes cortico-résistants et cortico-sensibles: diminution du transfert nucléaire.

We have demonstrated in prior work that the density of cytoplasm receptors was comparable in DEXA-resistant and DEXA-sensible thymocyte populations (1). The present study was aimed at examining whether the resistance of thymocytes to the lytic action of glucocorticoids was linked or not to variation in the physico-chemical properties of the receptor itself. Our results show that the cytoplasmic receptors of DEXA-resistant thymocytes were, in terms of specificity, stability and elution profile on DEAE Sephacel columns, similar to those of DEXA-sensible cells. However, under condition of identical concentrations of DNA and receptors, we revealed a decrease in the nuclear transfer of glucocorticoid receptor in the DEXA-resistant thymocytes. This deficiency may account in part for the glucocorticoid resistance of these cells which may be related to intrathymic cell differentiation phenomenon.

Direct intraperitoneal insemination and controlled ovarian hyperstimulation in subfertile couples.

METHOD: We performed direct intraperitoneal insemination in combination with superovulation and washed husband's spermatozoa as the treatment of infertility caused by oligospermia, cervical subfertility, or ovulatory dysfunction or idiopathic infertility in 162 couples during 360 cycles. RESULTS: The pregnancy rate per couple was 21.9% in the cervical-factor group, 20.9% in the idiopathic group, 4.9% in the oligospermia group, and 15.5% in the ovulatory dysfunction group. CONCLUSION: The pregnancy rate was 33.3% for all couples and 15.0% for all cycles.

Involution of rat thymus: characterization of cytoplasmic glucocorticoid receptors, evidence of glucocorticoid resistant dexamethasone receptor-positive cells.

In rats, thymic relative weight increased after birth reaching maximum values between days 15-30 and then decreased markedly in a similar way in both sexes, while the organ's absolute weight continued to increase until days 80-90 and declined slowly with apparent sex differences from day 30 onward. Scatchard analysis revealed that the [3H] dexamethasone (Dexa) receptor sites concentration showed a pattern comparable to that found in relative thymic weight, with no change in the apparent KD. The reduction of lymphocytes mitotic activity resulting in reduction of immature thymocytes production must be accompanied by a fall of the number of glycocorticoid receptors in ageing thymuses. Despite the profound decrease in the glucocorticoid receptor sites levels, the thymus sensitivity to Dexa remained unchanged during development. Indeed, in prepuberal and adult rats, the steroid administration was followed 4 days after by a transient thymic weight loss of about 70-80% which was mainly linked to the reduction in the cortical area. In contrast, the density of [3H] Dexa binding sites was reduced unexpectedly by 25% only after steroid treatment. These findings provided evidence that Dexa receptor-positive population cells in thymus was formed in a large part by relatively glucocorticoid resistant cells.