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ULTIMO FASCICOLOPANMINERVA MEDICA

Rivista di Medicina Interna


Indexed/Abstracted in: BIOSIS Previews, Current Contents/Clinical Medicine, EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
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Panminerva Medica 2014 Dicembre;56(4):245-61

MENOPAUSE IN 2014 

A clinical research integration special program (CRISP) for young women with primary ovarian insufficiency

Falorni A. 1, Minarelli V. 1, Eads C. M. 2, Joachim C. M. 2, Persani L. 3, Rossetti R. 3, Yurttas Beim P. 4, Pellegrini V. A. 5, Schnatz P. F. 5-9, Rafique S. 10, Kissell K. 10, Calis K. A. 10, Popat V. 10, Nelson L. M. 10, 11

1 Department of Medicine, University of Perugia, Perugia, Italy;
2 Rachel’s Well, McLean, VA, USA;
3 Department of Clinical Sciences and Community Health, University of Milan, Laboratory of Endocrine and Metabolic Research and Division of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy;
4 Celmatix Inc., New York, NY, USA;
5 Department of Obstetrics and Gynecology, Reading Hospital, Reading, PA, USA;
6 Department of Internal Medicine, Reading Hospital, Reading, PA, USA;
7 Department of Obstetrics and Gynecology, Jefferson Medical College of Thomas Jefferson University, Philadelphia, PA, USA;
8 Department of Internal Medicine, Jefferson Medical College of Thomas Jefferson University, Philadelphia, PA, USA;
9 FaithCare, Hartford, CT, USA;
10 Intramural Research Program on Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA;
11 United States Public Health Service, Rockville, MD, USA

Large-scale medical sequencing provides a focal point around which to reorganize health care and health care research. Mobile health (mHealth) is also currently undergoing explosive growth and could be another innovation that will change the face of future health care. We are employing primary ovarian insufficiency (POI) as a model rare condition to explore the intersection of these potentials. As both sequencing capabilities and our ability to intepret this information improve, sequencing for medical purposes will play an increasing role in health care beyond basic research: it will help guide the delivery of care to patients. POI is a serious chronic disorder and syndrome characterized by hypergonadotrophic hypogonadism before the age of 40 years and most commonly presents with amenorrhea. It may have adverse health effects that become fully evident years after the initial diagnosis. The condition is most commonly viewed as one of infertility, however, it may also be associated with adverse long-term outcomes related to inadequate bone mineral density, increased risk of cardiovascular disease, adrenal insufficiency, hypothyroidism and, if pregnancy ensues, having a child with Fragile X Syndrome. There may also be adverse outcomes related to increased rates of anxiety and depression. POI is also a rare disease, and accordingly, presents special challenges. Too often advances in research are not effectively integrated into community care at the point of service for those with rare diseases. There is a need to connect community health providers in real time with investigators who have the requisite knowledge and expertise to help manage the rare disease and to conduct ongoing research. Here we review the pathophysiology and management of POI and propose the development of an international Clinical Research Integration Special Program (CRISP) for the condition.

lingua: Inglese


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