Are expanded alleles of the FMR1 gene related to unexplained recurrent miscarriages?

BACKGROUND: In women with recurrent miscarriages, up to 50 % of those cases remain unexplained. In this study, we evaluated the impact of Cytosine/Guanine/Guanine (CGG)  trinucleotide expansions of the fragile-X mental retardation 1 (FMR1) gene in women with unexplained recurrent miscarriages. METHODS: This is a prospective case-control pilot study involving 49 women with unexplained recurrent miscarriages and 49 age-matched controls with documented fertility. The case group consisted of women with a history of two or more consecutive miscarriages, in whom no known factor could be identified. The maximum age of recruitment was 40 years. We obtained blood samples that were checked, using polymerase chain reaction with electrophoresis, for the presence of expanded alleles of the FMR1 gene. We further evaluated using sequencing analysis, those women marked as positive. We set the limit at more than 40 repeats. RESULTS: The repeat sizes of CGG expansion in the FMR1 gene differ significantly in the two population groups (p =0.027). We found four women in the miscarriage group and one in the control group positive for carrying premutation alleles (Odds ratio: 4.267, confidence interval: 0.459-39.629). All the positive cases involved intermediate zone carriers. We found no association between the number of abortions each woman had, and her respective CGG repeat number (p =0.255). CONCLUSIONS: Many couples are desperately looking for the cause of their recurrent miscarriage suffering. The CGG expanded allele of the FMR1 gene is possibly to be blamed in some of these cases. More studies are needed to support the results of this prototype study. HIPPOKRATIA 2018, 22(3): 132-136.

Laparoscopic management of unexpected borderline ovarian tumors in women of reproductive age.

PURPOSE OF INVESTIGATION: The aim of this study was to review the clinical features of women with unexpected borderline ovarian tumours. METHODS: Between October 1992 and December 2010, 1332 out of 4016 laparoscopies were performed for adnexal masses in women of reproductive age and 1838 cysts were removed. When ultrasonographic findings did not meet the criteria for low risk malignancy, tumour markers, colour Doppler and MRI/CT were applied. At laparoscopy any solid component or papilla was sent for rapid frozen section. RESULTS: Borderline ovarian tumours were found in eight (0.6%) out of 1332 patients, two of which were bilateral. The mean age was 28.75 +/- 9.27 years and the mean diameter of the cysts was 5.1 +/- 1.7 cm. In two cases unexpected malignancy was discovered during the diagnostic and in six cases during the operative phase of the intervention. CONCLUSION(S): Risk of failure to diagnose cancer could be minimised with careful patient selection preoperatively. Adequate training on laparoscopic oncology is the necessary prerequisite for a safe laparoscopic approach.

Obstetric and neonatal outcome after assisted fertilization and spontaneous conception: a comparative study.

PURPOSE: The widespread use of assisted reproduction technology (ART) is accompanied by concerns for potential adverse outcomes. The aim of the present study was to evaluate the impact of ART in obstetric and neonatal outcome. METHODS: Data from labor ward records from 913 consecutive births were analyzed retrospectively, and the obstetric and neonatal outcomes of pregnancies after ART were compared with those after natural conception. RESULTS: No major complications were noted after ART. A higher probability of cesarean section, lower gestational age at birth, lower birth weight and hospitalization in the Neontal Intensive Care Unit (NICU) was noted after ART, as compared with spontaneous conception. However, after exclusion of multifetal pregnancies, there was no significant difference in outcomes, except for cesarean section rates. CONCLUSIONS: The higher proportion of multiple pregnancies after ART is associated with lower gestational age at birth, lower birth weights and higher NICU hospitalization rates.

Age-related differences in features associated with polycystic ovary syndrome in normogonadotrophic oligo-amenorrhoeic infertile women of reproductive years.

OBJECTIVE: To assess the effect of age on clinical, endocrine and sonographic features associated with polycystic ovary syndrome (PCOS) in normogonadotrophic anovulatory infertile women of reproductive years. DESIGN: Cross-sectional study. METHODS: Four hundred and seventy-two oligo-amenorrhoeic infertile patients, presenting with normal FSH and oestradiol concentrations, aged 17-42 years underwent a standardised initial evaluation including: cycle history, body mass index, waist-to-hip ratio and transvaginal ultrasound scanning of ovaries. Fasting blood samples were obtained for extensive endocrine evaluation. Cycle duration, serum levels of gonadotrophins, androgens, oestradiol, insulin, glucose, inhibin B as well as mean number of follicles, ovarian volume and ovarian stroma echogenicity were assessed. RESULTS: Older women had significantly lower LH and androgen and inhibin B serum levels. Similarly, older women presented with a reduced number of ovarian follicles. Age was inversely correlated with cycle duration (r=-0.112, P=0.02), LH (r=-0.154, P=0.001), testosterone (r=-0.194, P=0.001), androstenedione (r=-0.170, P=0.001), dehydroepiandrosterone (r=-0.157, P=0.001), insulin (r=-0.126, P=0.02), inhibin B (r=-0.118, P=0.03) serum levels and mean follicle number (r=-0.100, P=0.03). A positive correlation was observed between age and glucose to insulin ratio (r=0.138, P=0.009). CONCLUSIONS: Advanced age in normogonadotrophic anovulatory infertile women is associated with lower LH and androgen levels and with a decreased number of ovarian follicles. Although during reproductive years observed differences are relatively small, these age-related changes may affect the observed incidence of PCOS.

[Small intestine bacterial overgrowth: six case reports and literature review]. / Colonisation bactérienne chronique de l'intestin grêle: présentation de six observations et mise au point.

INTRODUCTION: Small intestinal bacterial overgrowth syndrome (SIBOS) has various clinical and biological presentations. Six observations are described in this review which is aimed at reporting recent data on SIBOS and proposing diagnosis and therapeutic attitudes. CURRENT KNOWLEDGE AND KEY POINTS: Chronic diarrhea, malabsorption syndrome and exsudative enteropathy are the main criteria of diagnosis. Breath hydrogen testing is commonly performed to confirm diagnosis, with a 78% sensitivity and a 89% specificity. The aim of therapy is reparation of malabsorption consequences, reduction of intestinal bacterial overgrowth, and surgical correction of intestinal stasis. In the absence of consensus, norfloxacin or amoxicillin-clavulinic acid (administered for a mean of 7 to 15 days) seem the more appropriate antibiotics. When possible, surgery represents the primary treatment of SIBOS recurrences. FUTURE PROSPECTS AND PROJECTS: Diagnosis of small intestinal bacterial overgrowth syndrome must be evoked on the basis of either surgical or medical context, i.e., the existence of chronic diarrhea, malabsorption syndrome (complete or not), and exsudative enteropathy. This review reports essential factors for diagnosis and treatment.

Intracytoplasmic sperm injection. Survey of world results.

The widespread application of intracytoplasmic sperm injection (ICSI) has raised concern about the efficacy and safety of this novel technique. The European Society of Human Reproduction and Embryology (ESHRE) has established an ICSI Task Force to collect annually the clinical results, the outcome of pregnancy, and the follow-up of children after ICSI using ejaculated, epididymal, and testicular sperm in order to address these important issues in a relatively short time. Over a 3-year span (1993-1995), the number of centers for ICSI increased from 35 to 101, and the total number of ICSI cycles per year rose from 3,157 to 23,932. The incidence of oocytes damaged by the procedure remained low (< 10%), whereas the fertilization rates obtained with ejaculated, epididymal, and testicular spermatozoa for 1995 were 64%, 62%, and 52%, respectively. Thus, 86-90% of the couples had embryo transfer, and the viable pregnancy rate was 21% for ejaculated, 22% for epididymal, and 19% for testicular sperm, while the incidence of multiple gestations was 29%, 30%, and 38%, respectively. It is noteworthy that no difference was found in ICSI results concerning the etiology of azoospermia, for example, obstructive (congenital or acquired) or nonobstructive. Furthermore, 3,149 transfers of frozen-thawed embryos after ICSI with ejaculated, epididymal, or testicular sperm were performed, and in 11%, 9%, and 7% of them, respectively, a viable pregnancy was achieved. The ICSI results were similar during this 3-year period, irrespective of the origin of the sperm. The perinatal outcome of children born after ICSI was not different from that after in vitro fertilization or natural conception and was only affected by multiplicity. Moreover, the incidence of major or minor malformations was not increased, but the chromosomal, especially the sex chromosomal, aberration rate was slightly elevated (approximately 2%). Therefore, ICSI has opened new horizons in the treatment of male infertility. The achievement of pregnancy after ICSI using ejaculated, epididymal, or testicular sperm is very satisfactory. The procedure seems to be safe, but further follow-up of the children is necessary to more accurately assess its safety.

[Panhypopituitarism disclosing empty sella turcica syndrome]. / Panhypopituitarisme révélant un syndrome de la selle turcique vide.

INTRODUCTION: Empty sella syndrome is sometimes associated with anterior pituitary insufficiency, the latter being mostly partial or dissociated. EXEGESIS: We report a case of a profound panhypopituitarism revealing an empty sella syndrome. This case shows that empty sella syndrome, although a generally benign and asymptomatic condition, can be associated with hypopituitarism. CONCLUSION: In case of empty sella syndrome, especially if an endocrine dysfunction is clinically suspected, minimal hormonal analysis must be requested.

[Autoimmune cholangitis successfully treated with corticotherapy. One case]. / Cholangite auto-immune traitée avec succés par corticothérapie. Un cas.

Autoimmune cholangitis is a rare cause of chronic liver disease which has recently been described and associates the clinical, biological, and histological patterns of primary biliary cirrhosis without serum anti-mitochondrial antibodies. We report a case of this disease in a 67-year-old female. The patient presented with jaundice and marked biological cholestasis associated with pulmonary fibrosis and salivary and lacrymal sicca syndrome. Serum anti-smooth muscle antibodies were found without anti-mitochondrial antibodies. Corticotherapy resulted in rapid improvement of clinical and hepatic abnormalities, as well as of pulmonary lesions. The patient was still healthy 18 months later, with low dose corticotherapy. This report emphasizes the possible effectiveness of corticotherapy in autoimmune cholangitis.