jueves, 25 de mayo de 2017

Síndrome de Prader-Willi - Actualización

Síndrome de Prader-Willi - Actualización

Síndrome de Prader-Willi - Actualización

Novedades en la página de Síndrome de Prader-Willi de MedlinePlus
05/22/2017 02:32 PM EDT

Fuente: Instituto Nacional de Salud Infantil y Desarrollo Humano - Desde los Institutos Nacionales de la Salud
05/22/2017 02:32 PM EDT

Fuente: Instituto Nacional de Salud Infantil y Desarrollo Humano - Desde los Institutos Nacionales de la Salud
05/22/2017 02:32 PM EDT

Fuente: Instituto Nacional de Salud Infantil y Desarrollo Humano - Desde los Institutos Nacionales de la Salud
05/22/2017 02:32 PM EDT

Fuente: Instituto Nacional de Salud Infantil y Desarrollo Humano - Desde los Institutos Nacionales de la Salud
05/22/2017 02:32 PM EDT

Fuente: Instituto Nacional de Salud Infantil y Desarrollo Humano - Desde los Institutos Nacionales de la Salud

Levels of Evidence: Adult and Pediatric Treatment Studies (PDQ®)—Health Professional Version - National Cancer Institute

Levels of Evidence: Adult and Pediatric Treatment Studies (PDQ®)—Health Professional Version - National Cancer Institute

National Cancer Institute

Levels of Evidence for Adult and Pediatric Cancer Treatment Studies (PDQ®)–Health Professional Version



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Changes to This Summary (05/19/2017)

The PDQ cancer information summaries are reviewed regularly and updated as new information becomes available. This section describes the latest changes made to this summary as of the date above.
Revised text in the third type of study design to include case series or other observational study designs.
Revised text to include nonconsecutive cases or other observational study designs (e.g., cohort or case-control studies).
Revised text to state that the clinical experiences always raise issues of patient selection and comparability with other populations. In order of generalizability to other populations are population-based studies that have a definable population, nonpopulation-based but consecutive series, and nonconsecutive cases. Added that some study designs (e.g., cohort and case-control studies) have internal-control study subjects, and the strength of conclusions that can be drawn from these studies depends on the homogeneity of patients managed with the interventions. If the subjects are sufficiently comparable, stronger conclusions are possible than with case-only series with no internal comparison group or with case-only series that are compared to historical controls.
This summary is written and maintained by the PDQ Adult Treatment Editorial Board, which is editorially independent of NCI. The summary reflects an independent review of the literature and does not represent a policy statement of NCI or NIH. More information about summary policies and the role of the PDQ Editorial Boards in maintaining the PDQ summaries can be found on the About This PDQ Summary and PDQ® - NCI's Comprehensive Cancer Database pages.
  • Updated: May 19, 2017

Genetics of Breast and Gynecologic Cancers (PDQ®)—Health Professional Version - National Cancer Institute

Genetics of Breast and Gynecologic Cancers (PDQ®)—Health Professional Version - National Cancer Institute
National Cancer Institute

Genetics of Breast and Gynecologic Cancers (PDQ®)–Health Professional Version


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Changes to This Summary (05/18/2017)

The PDQ cancer information summaries are reviewed regularly and updated as new information becomes available. This section describes the latest changes made to this summary as of the date above.
Added as Cybulski et al. as reference 50.
Added text to state that breastfeeding for more than 12 months may be associated with a reduction in ovarian cancer among carriers of BRCA1/BRCA2 pathogenic variants (cited Kotsopoulos et al. as reference 70).
Added text about expansion of the Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm model to include additional pathogenic variants, including CHEK2ATM, and PALB2 (cited Lee et al. as reference 141).
Added text to state that a study of Ashkenazi Jewish (AJ) individuals who had comprehensive testing as their initial test or who had reflex testing ordered only if testing for the three common AJ founder pathogenic variants was negative suggests that the true incidence of nonfounder pathogenic variants is closer to 7% (cited Rosenthal et al. as reference 52).
Added text about results of 286 TP53 pathogenic variant–positive individuals in the National Cancer Institute’s Li-Fraumeni Syndrome Study that indicated a cumulative cancer incidence of almost 100% by age 70 years for both males and females (cited Mai et al. as reference 358).
Added Snyder et al., Nguyen-Dumont et al., and Damiola et al. as references 425, 426, and 427 respectively.
Added text to state that the timing of genetic testing and knowledge of BRCA pathogenic variant status may influence surgical decision making and may prevent subsequent surgeries. Therefore, it is important to consider genetic testing in advance of surgery when possible in individuals at increased risk of carrying a BRCA pathogenic variant (cited Chiba et al. as reference 56).
Added text about a study that confirmed the malignant potential of serous tubal intraepithelial carcinoma (STIC) lesions. While 3 of 243 women with benign pathology at risk-reducing salpingo-oophorectomy subsequently developed primary peritoneal carcinoma, 2 of 9 women with STIC developed high-grade pelvic serous carcinoma after a median follow-up time of 63 months (cited Zakhour et al. as reference 199).
Added text about a case-control study of women with pathogenic variants in BRCA1 that demonstrated maximum benefit after 5 years of oral contraceptive (OC) use, while women with pathogenic variants in BRCA2 seemed to reach maximum benefit after 3 years of OC use (cited Kotsopoulos et al. as reference 227).
Revised text to state that formal, objective evaluation of emotional outcomes in recipients of genetic counseling are well documented.
Added text about a study conducted in Austria that noted that certain subgroups of counselees experienced greater distress, including those who were older, had a more recent cancer diagnosis, or those who had received counseling but declined BRCA testing (cited Oberguggenberger et al. as reference 106).
This summary is written and maintained by the PDQ Cancer Genetics Editorial Board, which is editorially independent of NCI. The summary reflects an independent review of the literature and does not represent a policy statement of NCI or NIH. More information about summary policies and the role of the PDQ Editorial Boards in maintaining the PDQ summaries can be found on the About This PDQ Summary and PDQ® - NCI's Comprehensive Cancer Database pages.
  • Updated: May 18, 2017