Genetic variation in the progesterone receptor gene and susceptibility to recurrent pregnancy loss: a case-control study.

OBJECTIVE: To investigate the association of progesterone receptor (PGR) gene variants with susceptibility to recurrent pregnancy loss (RPL). DESIGN: Retrospective case-control study. SETTING: Outpatient obstetrics and gynaecology clinics. POPULATION: Women with RPL (396), defined as three or more consecutive miscarriages of unknown aetiology, and 361 women used as controls. METHODS: PGR genotyping was performed by the allelic exclusion method (real-time polymerase chain reaction). MAIN OUTCOME MEASURES: PGR single nucleotide polymorphisms (SNPs) and the distribution of their alleles, genotypes and haplotypes. RESULTS: Higher minor allele frequencies (MAFs) for rs590688, rs10895068, and rs1942836 were seen in RPL cases than in controls, which remained significant after controlling for multiple comparisons. Significantly higher frequencies of heterozygous (1/2) rs608995, along with heterozygous (1/2) and homozygous (2/2) rs590688, rs10895068, and rs1942836 genotype carriers, were seen between RPL cases versus controls, respectively, which persisted after controlling for age, body mass index (BMI), and menarche. The increased risk of RPL associated with rs590688 and rs1942836 was dependent on the number of minor alleles, thus suggesting a 'dose-dependent' effect associated with both variants. Varied linkage disequilibrium (LD) was noted between rs590688, rs10895068, rs608995, and rs1942836 PGR variants associated with RPL. Haplotypes with an increased frequency of CGTC and reduced frequency of GGAT were noted in women with RPL, compared with controls, thereby indicating these haplotypes as RPL-susceptible and RPL-protective, respectively. This association persisted after controlling for multiple comparisons, and after adjusting for covariates. CONCLUSIONS: We have confirmed a positive association of specific PGR variants (rs590688, rs10895068, and rs1942836) and PGR haplotypes (ATGCCGTC and ATTCGGTC) with an increased risk of RPL, thereby supporting a role for PGR as an RPL candidate locus. TWEETABLE ABSTRACT: Genetic variants in progesterone receptor gene are associated with increased risk of recurrent pregnancy loss.

[Mucormycosis and diabetes: three cases reported]. / Mucormycose et diabète: a propos de trois cas.

Mucormycosis is a rare and often fatal fungal infection. It mainly occurs when predisposing factors such as diabetic ketoacidosis are present. We report three cases of rhino-orbito-cerebral, rhino-orbital and pulmonary mucormycosis in patients with diabetic ketoacidosis. The diagnosis was reached after identification of hypae of the order mucorales using pathology and mycology examinations. A fatal issue occured in two cases and one case survived after adequate therapy.

[Massive ovarian oedema]. / Confrontation anatomo-clinique (Edème massif de l'ovaire, à propos d'un cas.

Massive ovarian oedema is a rare tumor-like condition predominantly found in young women. It is considered malignant until otherwise proven because of its solid nature. The pre-operative diagnosis is very difficult. The frozen section examination can help for diagnosis and ensures conservative treatment with ovarian preservation. The authors report a case of a 23-years-old woman with right ovarian mass findings on ultrasound imaging. The diagnosis of massive ovarian oedema was made on frozen section after a right oophorectomy. Although most of reported cases has been handled by oophorectomy, the conservative treatment must be the ruler, especially since the disorder is benign and reaches the youth.

[Lymphoepithelioma-like carcinoma of the uterine cervix: case report]. / Carcinome de type lymphoépithélial du col utérin. A propos d'un cas.

We report a case of a 79-year-old Tunisian woman who presented with post-coital bleeding. A polypoïd mass of the cervix was discovered. Histopathological examination of the specimen biopsy showed a squamous-cell carcinoma. The patient underwent radical resection. The definitive diagnosis of lymphoepithelioma-like carcinoma of the cervix was retained after histopathological and immunohistochemical examination. There was no local involvement and no metastasis. The lymphoepitheloma-like carcinoma of the uterine cervix is a rare entity with distinct morphological features and a usually good prognosis.