Atualizações científicas da semana – 05 de dezembro a 09 de dezembro de 2011

Publicado em: 14 de dezembro de 2011

Atualizações científicas da semana – 05 de dezembro a 09 de dezembro de 2011

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Urinary vitamin D-binding protein is elevated in patients with endometriosis

Publicado em Dezembro de 11 pela Human Reproduction, disponível no Oxfor Journal.


Recently, proteomic technologies have demonstrated that several proteins are differently expressed in various body fluids of patients with endometriosis compared with those without this condition. The aim of this study was to investigate proteins secreted in urine of patients with endometriosis using proteomic techniques in order to identify potential markers for the clinical diagnosis of endo- metriosis.

Methods: Urine samples were collected from women undergoing laparoscopy for different indications including pelvic masses, pelvic pain, suspicious endometriosis, infertility and diagnostic evaluation. Proteomic techniques and mass spectrometry were used to identify pro- teins secreted in the urine of the patients with and without endometriosis and quantification of identified protein was performed using western blot and specific commercial sandwich enzyme-linked immunosorbent assays (ELISA).

Results: Twenty-two protein spots were differentially expressed in the urine of patients with and without endometriosis, one of which was identified as urinary vitamin D-binding protein (VDBP). ELISA quantification of urinary VDBP corrected for creatinine expression (VDBP- Cr) revealed that urinary VDBP-Cr was significantly greater in patients with endometriosis than in those without (111.96 + 74.59 versus 69.90 + 43.76 ng/mg Cr, P 1⁄4 0.001). VDBP-Cr had limited value as a diagnostic marker for endometrioisis (Sensitivity 58%, Specificity 76%). When combined with serum CA-125 levels (the product of serum CA-125 and urinary VDBP-Cr), it did not significantly increase the diagnostic power of serum CA-125 alone.

Conclusions: Urinary VDBP levels are elevated in patients with endometriosis. They have limited value as a potential diagnostic bio- marker for endometriosis but suggest it would be worthwhile to investigate other urinary proteins for this purpose.

Combined transanal and laparoscopic approach for the treatment of deep endometriosis infiltrating the rectum

Publicado em Dezembro de 11 pela Human Reproduction, disponível no Oxfor Journal.


Two surgical approaches are employed in the treatment of deep infiltrating endometriosis of the rectum (DIER): colo-rectal resection and nodule excision. In 2009, we introduced a new technique for transanal full thickness disc excision of endometriotic TM nodules infiltrating the low and middle rectum, using the Contourw Transtar    stapler (Ethicon Endo-Surgery inc., Cincinnati, OH, USA). The aim of this retrospective study was to describe the technique and to present data on the feasibility of this technique.

Methods: From April 2009 to October 2010, all patients presenting with DIER and undergoing full thickness excision using the Contourw TM. Transtar stapler were enrolled in the study. Pre-, intra- and post-operative data were collected and reported.

Results: Six nulliparous women were managed using this technique during the study period. The rectal wall discs removed measured from 40 × 45 to 60 × 50 mm. In two cases, microscopic foci were noted on one of the margins but in four cases the limits were clear. Operating time varied from 180 to 450 min. Four women were completely free of post-operative digestive complaints.

Conclusions: Despite the small numbers in this series, our data suggest that the new technique of transanal rectal disc excision using the contour stapler may be applied in patients with infiltrating endometrial nodules of the rectum up to 10 cm from the anal margin and up to 5 cm in diameter. This new procedure promises to be a useful addition to the surgeon’s armamentarium in a multidisciplinary approach to deep pelvic endometriosis.

HSFY genes and the P4 palindrome in the AZFb interval of the human Y chromosome are not required for spermatocyte maturation

Publicado em Dezembro de 11 pela Human Reproduction, disponível no Oxfor Journal.


Recurrent AZFb deletions on the human Y chromosome are associated with an absence of ejaculated spermatozoa con- sequent to a meiotic maturation arrest that prevents the progression of germ cells to haploid stages. The extreme rarity of partial deletions has hampered the identification of the AZFb genes required for normal meiotic stages. The critical interval, refined by two overlapping dele- tions associated with full spermatogenesis (AZFc and b1/b3), measures over 4 Mb and contains 13 coding genes: CDY2, XKRY, HSFY1, HSFY2, CYORF15A, CYORF15B, KDM5D, EIF1AY, RPS4Y2 and four copies of RBMY.

Methods and results: We screened 1186 men from infertile couples for Y chromosome deletions, and identified three unrelated oligozoospermic men and one azoospermic man who carry an identical 768 kb deletion resulting in loss of the entire P4 palindrome, including both HSFY genes, the only coding genes within the deletion interval. This 768 kb deletion was not found in 1179 control men. The deletion breakpoints share only 4 bp of nucleotide identity, revealing that the deletions are not recurrent, but are descendants of a founding deletion. Confirming this, we find that all four men carry a Y chromosome of the same highly defined haplogroup (R1b1b1a1b) (incidence 30% in Southern France), although further haplotype analyses showed that they were not closely related.

Conclusions: Although the HSFY deletion is restricted to our infertile group, it has been transmitted naturally over many generations, indicating that HSFY genes make only a slight contribution to male fertility. Importantly, our study formally excludes HSFY genes as the AZFb factor required for progression through meiosis.

 Identification and validation of novel serum markers for early diagnosis of endometriosis

Publicado em Dezembro de 11 pela Human Reproduction, disponível no Oxfor Journal.


Non-invasive diagnosis of endometriosis is urgently required to prevent the long delay between the onset of symptoms and diagnosis. A biomarker that possesses both high sensitivity and specificity is greatly required. Here, we describe the use of a proteomic approach to identify potential novel endometrial antigens using sera from endometriosis patients and healthy controls, with evaluation of biomarkers for non-invasive diagnosis of endometriosis.

Methods: A cross-sectional study was conducted to identify specific endometrial antigens using 1D and 2D western blots in women with early endometriosis (n 1⁄4 17), advanced endometriosis (n 1⁄4 23) and without endometriosis (n 1⁄4 30). Five immunoreactive spots were ana- lyzed using matrix-assisted laser desorption/ionization-time-of-flight/mass spectrometry with MASCOT analysis. ELISAs were established for specific epitopes and autoantibody titres were estimated in an independent cohort comprising women with early endometriosis (n 1⁄4 18), advanced endometriosis (n 1⁄4 32) and without endometriosis (n 1⁄4 27) for validation.

Results: The 2D western blot analysis resulted in the identification of three endometrial antigens, tropomyosin 3 (TPM3), stomatin-like protein 2 (SLP2) and tropomodulin 3 (TMOD3). Serum levels of antibodies against the epitopes from the immunodominant region of pro- teins TPM3, SLP2 and TMOD3 were significantly elevated in endometriosis patients when compared with controls. Sensitivity and specificity of serum anti-TPM3a-autoAb (61%, 93%), anti-TPM3c-autoAb (44%, 93%), anti-TPM3d-autoAb (78%, 89%), anti-SLP2a-autoAb (50%, 96%), anti-SLP2c-autoAb (61%, 93%), anti-TMOD3b-autoAb (61%, 96%), serum anti-TMOD3c-autoAb (78%, 93%) and anti-TMOD3d-autoAb (78%, 96%) were better than those of serum CA125 levels (21%, 89%) in the detection of early stages of endometriosis.

Conclusions: Serum anti-TPM3a-autoAb, anti-TPM3c-autoAb, anti-TPM3d-autoAb, anti-SLP2a-autoAb, anti-SLP2c-autoAb, anti- TMOD3b-autoAb, anti-TMOD3c-autoAb and anti-TMOD3d-autoAb could be new markers for the early diagnosis of endometriosis.

Carotid artery intima-media thickness in polycystic ovary syndrome: a systematic review and meta-analysis

Publicado em Dezembro de 11 pela Human Reproduction, disponível no Oxfor Journal.


Polycystic ovary syndrome (PCOS) is a common reproductive endocrine disorder associated with cardiovascular disease (CVD) risk factors and metabolic disturbances. This systematic review and meta-analysis was conducted to determine whether carotid intima-media thickness (CIMT), a marker of subclinical atherosclerosis, is higher in women with PCOS compared with women without PCOS.

Methods: Primary articles reporting the mean CIMT in women with PCOS and controls were identified using Ovid MEDLINE, EMBASE and PUBMED. We performed a random-effects meta-analysis and created forest plots of the mean difference in CIMT and conducted tests for heterogeneity and publication bias. Studies were grouped by quality, defined by reporting reproducibility of CIMT and averaging both common carotid arteries versus one side for CIMT.

Results: From the 36 eligible full-text studies, 8 studies were included in the systematic review and 19 studies were included in the meta-analysis (total n 1⁄4 1123 women with PCOS, n 1⁄4 923 controls). The summary mean difference in CIMT among women with PCOS compared with controls was 0.072 mm [95% confidence interval (CI) 0.040, 0.105, P , 0.0001] for highest quality studies, 0.084 mm (95% CI 0.042, 0.126, P 1⁄4 0.0001) for good quality studies, 0.041 (95% CI 20.038, 0.120, P 1⁄4 0.310) for fair-quality studies and 0.045 (95% CI 20.020, 0.111, P 1⁄4 0.173) for lower quality studies.

Conclusions: Larger studies with a well-defined PCOS population using rigorous methodology may be required to draw a more robust conclusion. However, these results suggest women with PCOS are at a greater risk of premature atherosclerosis, which emphasizes the importance of screening and monitoring CVD risk factors in women with PCOS.

Patient-focused Internet interventions in reproductive medicine: a scoping review

Publicado em Dezembro de 11 pela Human Reproduction Update, disponível no Oxfor Journal.


The Internet has revolutionized fertility care since it became a popular source of information and support for infertile patients in the last decade. The aim of this scoping review is to map (i) the main categories of patient-focused Internet interventions within fertility care, (ii) the detailed composition of the interventions and (iii) how these interventions were evaluated.

Methods: A literature search used various ‘Internet’ and ‘Infertility’ search terms to identify relevant studies published up to 1 September 2011. The selected studies had to include patients facing infertility and using an infertility-related Internet intervention. We charted data regarding categories of interventions, components of interventions and evaluation methodology. We categorized the stages of research using the UK’s Medical Research Council framework for evaluating complex interventions.

Results: We included 20 studies and identified 3 educational interventions, 2 self-help interventions, 1 human-supported therapeutic intervention, 9 online support groups and 2 counselling services. Information provision, support and mental health promotion were common aims. Few interactive online components were present in the online programmes. Three studies were in the pilot phase and 17 were in the evaluation phase.

Conclusions: Several categories of patient-focused Internet-based interventions in fertility care are primarily applied to provide support and education and promote mental health. The interventions could be improved by using more interactive and dynamic elements as their key components. Finally, more emphasis on methodological standards for complex interventions is needed to produce more rigorous evaluations. This review shows where further development or research into patient-focused Internet interventions in fertility-care practice may be warranted.

Epidemiology, diagnosis and management of hirsutism: a consensus statement by the Androgen Excess and Polycystic Ovary Syndrome Society

Publicado em Dezembro de 11 pela Human Reproduction Update, disponível no Oxfor Journal.


Hirsutism, defined by the presence of excessive terminal hair in androgen-sensitive areas of the female body, is one of the most common disorders in women during reproductive age.

Methods: We conducted a systematic review and critical assessment of the available evidence pertaining to the epidemiology, patho-physiology, diagnosis and management of hirsutism.

Results: The prevalence of hirsutism is

Conteúdo atualizado em: 3 de Maio de 2017

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