De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia.

We describe a case of a 34-year-old male presenting with oligospermia and an otherwise normal phenotype. Investigation with array-based comparative genomic hybridization (aCGH) revealed an interstitial deletion of about 15.5 Mb in chromosome 5p13.3p14.3. We compared the phenotype of our patient with recently reported patients studied by aCGH, who show an overlapping deletion. We also analyzed the gene content of the deleted region in order to propose a possible involvement of specific genes in the clinical phenotype.

Efficacy and safety of DT56a compared to hormone therapy in Greek post-menopausal women.

BACKGROUND: Hormone therapy (HT) is the treatment of choice for the alleviation of menopausal symptoms; concerns, however, about its concomitant long-term health risks have limited its use. DT56a is a unique enzymatic isolate of soybeans. The purpose of our study was to evaluate the efficacy and safety of DT56a, compared to HT, in symptomatic post-menopausal women. SUBJECTS AND METHODS: Eighty-nine post-menopausal women were studied prospectively. Women with climacteric symptoms were randomly assigned to receive eitherDT56a (no.=27) or oral low dose continuous combined HT (no.=26). Symptomatic women not wishing to receive any treatment served as controls (no.=36). Menopausal symptoms as assessed through the Kupperman index, serum lipids and lipoproteins, calcium, as well as bone mineral density (BMD), endometrial thickness, and mammography were assessed at baseline and at 12 months. RESULTS: Patients receiving HT and DT56a showed a significant and independent decrease in menopausal symptoms (mean difference in Kupperman score, DT56a group: -3.98, HT group -5.601, no treatment group +1.76, p-value <0.001). Lumbar spine BMD T-score was significantly lower in women receiving no treatment, as opposed to the two treatment arms which showed no significant change (No treatment, baseline: -0.60, final: -0.85, p=0.001; HT, baseline: -84, final -0.99, p=0.79; DT56a, baseline -0.51, final: -0.76, p=0.75). No differences in femoral bone density, ET or mammography classification were detected in any of the treatment arms. Likewise, serum lipids or lipoproteins did not differ between the three groups. CONCLUSIONS: DT56a decreased menopausal symptoms significantly and in the same degree as HT.

Soluble Fas and Fas-ligand levels in mid-trimester amniotic fluid and their associations with severe small for gestational age fetuses: a prospective observational study.

We aimed to determine the second-trimester amniotic fluid (AF) levels of soluble Fas (sFas) and Fas-ligand (FasL) and investigate their association with fetal growth. Therefore, sFas and FasL levels were measured by enzyme immunoassay in the AF of 21 small for gestational age (SGA), 13 large for gestational age (LGA), and 44 appropriate for gestational age (AGA) fetuses of pregnant women who underwent amniocentesis at between 15 and 22 weeks gestation. Our study results showed that sFas and FasL levels were detectable in AF. sFAS median (25th-75th centile) levels were 3.8 (2.8-4.6) ng/ml in SGA, 3.6 (3.1-4.5) ng/ml in AGA, and 4.0 (3.1-4.4) ng/ml in LGA. FasL median (25th-75th centile) levels were 26.0 (20.3-32.7) pg/ml in SGA, 22.7 (18.4-28.5) pg/ml in AGA, and 21.5 (15.8-30.9) pg/ml in LGA. The differences were not statistically significant. Nevertheless, statistically significant differentiation of FasL levels existed when SGA fetuses in the extremes of distribution (≤5th, ≤2.5th centile) were considered. This is the first study presenting sFas and FasL concentrations in early second-trimester amniotic fluid in AGA, SGA, and LGA fetuses. We found indications that severe and very severe SGA fetuses (≤5th and ≤2.5th centile) have high levels of FasL in the amniotic fluid. This finding probably reflects the increased rate of apoptosis that is assumed to exist in cases of extreme growth restriction.

Resistin in mid-trimester amniotic fluid in trisomy 21.

OBJECTIVE: The aim of this study was to examine whether resistin is present in second trimester amniotic fluid from trisomy 21 (also known as Down's syndrome) pregnancies and whether its concentration differs compared with euploid pregnancies. METHODS: The study cohort consisted of 58 women in the mid-trimester of pregnancy who underwent amniocentesis for prenatal diagnosis, 31 of whom carried a single fetus with diagnosed trisomy 21 (study group) and the rest with normal karyotype (control group, n = 27). Groups were matched for maternal and gestational age. Levels of resistin in amniotic fluid were measured by a commercially available enzyme-linked immunosorbent assay (ELISA) kit. RESULTS: Resistin was detected in all amniotic fluid samples. Its median concentration in the second trimester amniotic fluid of trisomy 21 pregnancies (2.1 ng/ml) was statistically significantly lower (p value <0.001) in comparison with that in euploid pregnancies (3.3 ng/ml). CONCLUSIONS: Resistin is a physiologic constituent of second trimester amniotic fluid. Lower levels of amniotic fluid resistin in pregnancies with trisomy 21 may reflect altered metabolic pathways in utero that could possibly be related with phenotypic features of the syndrome.

Corticotropin-releasing hormone and progesterone plasma levels association with the onset and progression of labor.

UNLABELLED: PURPOSE OF LNVESTIGATION: To examine the relationship between maternal plasma progesterone along with corticotropin- releasing hormone (CRH) plasma levels and the progression of labor. MATERIALS AND METHODS: Maternal serum CRH and progesterone were measured during the latent phase of labor, active labor, and 24 hours postpartum in women who went into spontaneous labor and delivered vaginally at term. Progesterone (P) levels in women delivered by an elective cesarean section at term were also measured as baseline. RESULTS: Mean maternal plasma P was 18% higher in the active phase than in the latent phase of labor (p < 0.01), and declined significantly by 24 hours postpartum (p < 0.001). Mean level of serum CRH was 24% higher in the active phase than in the latent phase of labor (p < 0.01), and subsequently declined significantly by 24 hours postpartum (p < 0.001). CONCLUSIONS: As labor progresses, P and CRH increase and subsequently decrease precipitously in the immediate postpartal period. P levels tend to drop in women who are in early labor compared with non-laboring full-term women.

Female genital mutilation in Greece.

The number of migrants and refugees with a female genital mutilation (FGM) living in Greece is rising. This study explores the characteristics and psychosexual issues of women with FGM who were examined in the 2nd Department of Obstetrics and Gynecology, University of Athens Medical School, Greece during the year 2009. The women were asked to fill out an anonymous questionnaire asking for demographic data, obstetric history, current complaints, and psychosexual problems. The results are presented and discussed, as FGM is a new reality for Greece. Healthcare providers have to familiarize themselves with issues related to FGM and improve their skills in transcultural care, so as to manage and support women with FGM adequately.

Mediators of chronic inflammation in polycystic ovarian syndrome.

Polycystic ovarian syndrome (PCOS) is an endocrine disorder affecting 5-10% of reproductive-age women. Hyperandrogenemia, which characterizes the syndrome, stimulates the maturation of adipocytes and favors central obesity. The linking hub between obesity and other metabolic manifestations of the syndrome seems to be chronic low-grade inflammation. We discuss the most reliable current data regarding the role of inflammatory mediators in PCOS, with particular focus on the genetic mechanisms implicated. C-reactive protein levels are 96% higher in PCOS patients than in healthy controls. Patients with the -308A polymorphism of the tumor necrosis factor-α gene have elevated androgens in comparison with carriers of the -308G. Interleukin 18 (IL-18) is elevated in lean patients, with a further rise in the presence of obesity and insulin resistance. Polymorphisms of the IL-1a, IL-1b and IL-6 genes have also been associated with PCOS. Plasminogen activator inhibitor-1 levels are positively associated with the syndrome, and carriers of the 4G allele of the 4G/5G polymorphism are at risk of developing PCOS. Other mediators discussed include adhesion molecules, osteoprotegerin, asymmetric dimethylarginine, homocysteine and advanced glycation end-products. The elucidation of the pathogenetic mechanisms implicated in PCOS and their connection with low-grade inflammation may in the future offer the opportunity for the formulation of novel therapeutic strategies and individualized therapy for these patients.

Fetuin A concentration in the second trimester amniotic fluid of fetuses with trisomy 21 appears to be lower: phenotypic considerations.

OBJECTIVE: We investigated whether the concentration of the glycoprotein fetuin A is altered in the second trimester amniotic fluid of trisomy 21 pregnancies compared with euploid pregnancies. METHODS: 25 pregnancies with an extra chromosome 21 were matched for maternal and gestational age with 25 pregnancies with normal karyotype. Levels of fetuin A in amniotic fluid were measured by a commercially available enzyme-linked immunosorbent assay (ELISA) kit. RESULTS: The median concentration of fetuin A in amniotic fluid of trisomy 21 pregnancies (5.3 ng/ml) was statistically significantly lower (P value = 0.008) compared with that in euploid pregnancies (6.8 ng/mL). CONCLUSION: Lower levels of fetuin A in trisomy 21 may indicate an association with altered metabolic pathways in this early stage that could potentially be associated with features of the syndrome, such as growth restriction or impaired osteogenesis.

Three-dimensional ultrasound and three-dimensional power Doppler improve the preoperative evaluation of complex benign ovarian lesions.

PURPOSE OF INVESTIGATION: To evaluate the diagnostic accuracy of three-dimensional ultrasound (3D-US) and three-dimensional power-Doppler (3DPD-US) as adjuncts to conventional B-mode-US in evaluation of complex benign ovarian lesions. METHODS: Transvaginal B-mode-US, 3D-US and 3DPD-US were performed in 29 patients with unilateral ovarian lesion. Patients were classified as low or high risk for malignancy according to a standardized scoring system composed of ten morphological and vascular parameters. Preoperative scores were matched to the histological results and the diagnostic performance of the scoring system was calculated. RESULTS: Seven out of the 16 cases of endometriomas (44%) were graded as low risk masses according to B-mode-US, while the addition of 3D-US and 3DPD-US increased the accuracy to 56% and 94%, respectively. All dermoid cysts were classified as high risk cases by B-mode-US, but 3D-US and 3DPD-US correctly classified 14% and 57% of cases, respectively. The use of B-mode-US, 3D-US and 3DPD-US correctly classified all four cystadenomas. Only the use of 3DPD-US correctly classified one out of two hemorrhagic corpus luteum cases, whereas the other imaging modalities characterized these lesions as high risk. The overall diagnostic accuracy increased from 38%, 48%, ana 83% with the application of B-mode-US alone, or combined with 3D-US and 3DPD-US, respectively. CONCLUSION: Conventional ultrasound supplemented with 3D-US and 3DPD-US and the evaluation of findings according to a specific scoring system can facilitate the preoperative classification of complex benign ovarian lesions.

Incidence of non-infectious 'acute mastoiditis' in children.

OBJECTIVE: The temporal bone may be the first involved site in cases of systemic disease, and may even present with acute, mastoiditis-like symptomatology. This study aimed to evaluate the incidence of such non-infectious 'acute mastoiditis' in children. MATERIALS AND METHODS: Retrospective chart review of 73 children admitted to a tertiary referral centre for acute mastoiditis. RESULTS: In 71 cases (97.3 per cent), an infectious basis was identified. In the majority of cases (33 of 73; 45 per cent), the responsible bacteria was Streptococcus pneumoniae. However, histopathological studies revealed a non-infectious underlying disease (myelocytic leukaemia or Langerhans' cell histiocytosis) in two atypical cases (2.7 per cent). CONCLUSION: 'Acute mastoiditis' of non-infectious aetiology is a rare but real threat for children, and a challenging diagnosis for otologists. A non-infectious basis should be suspected in every atypical, persistent or recurrent case of acute mastoiditis.

Intrauterine inflammation and preterm delivery.

Spontaneous preterm delivery, prematurity, and low birth weight due to prematurity account for a great part of neonatal morbidity and mortality. Specifically, chronic amniotic fluid inflammation may cause preterm labor, with the involvement of different mediators that produce diverse aspects of the inflammatory response. Although bacteria are considered to be the main trigger for intrauterine infection/inflammation, viral infections also appear to be involved. Recently, molecular genetic techniques have helped us better understand the underlying pathophysiologic processes. This is especially important because epidemiological and experimental studies indicate that intrauterine infection and inflammation constitute a risk factor for adverse neurological outcome in preterm infants. Chronic subclinical chorioamnionitis associated with preterm birth can also modify lung development. Although no current clinical strategy is aimed at adapting the maternofetal inflammatory response, immunomodulators may serve as a future intervention in preterm embryos.