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Technology offers new tools, challenges for rare-disease patients
WASHINGTON – Genetic developments may create a new medical model for patients with rare diseases and the doctors who treat them, according to Marshall Summar, MD, chief of genetics and metabolism at Children’s National Medical Center in Washington, D.C.
In an interview at the NORD Rare Summit, held by the National Organization for Rare Disorders, Dr. Summar and Peter L. Saltonstall, president and CEO of NORD, discussed hot topics in the rare disease field. Those include new knowledge of the natural history of rare diseases, made possible by the creation of patient databases and the expansion of genetic technology. In addition, some DNA therapies “are finally crossing the finish line,” said Dr. Summar. That means clinicians will be looking at some rare diseases as acute conditions rather than chronic.
However, patients with rare diseases continue to face challenges in terms of the need for prior authorization and for drug access. One of NORD’s missions is to help patients access treatment. “We are seeing these prior authorizations take weeks or even longer,” Mr. Saltonstall said – and meanwhile, patients aren’t receiving therapy.
Visit rarediseases.org for more information about NORD’s ongoing research and advocacy efforts.
Dr. Summar and Mr. Saltonstall had no financial conflicts to disclose.
WASHINGTON – Genetic developments may create a new medical model for patients with rare diseases and the doctors who treat them, according to Marshall Summar, MD, chief of genetics and metabolism at Children’s National Medical Center in Washington, D.C.
In an interview at the NORD Rare Summit, held by the National Organization for Rare Disorders, Dr. Summar and Peter L. Saltonstall, president and CEO of NORD, discussed hot topics in the rare disease field. Those include new knowledge of the natural history of rare diseases, made possible by the creation of patient databases and the expansion of genetic technology. In addition, some DNA therapies “are finally crossing the finish line,” said Dr. Summar. That means clinicians will be looking at some rare diseases as acute conditions rather than chronic.
However, patients with rare diseases continue to face challenges in terms of the need for prior authorization and for drug access. One of NORD’s missions is to help patients access treatment. “We are seeing these prior authorizations take weeks or even longer,” Mr. Saltonstall said – and meanwhile, patients aren’t receiving therapy.
Visit rarediseases.org for more information about NORD’s ongoing research and advocacy efforts.
Dr. Summar and Mr. Saltonstall had no financial conflicts to disclose.
WASHINGTON – Genetic developments may create a new medical model for patients with rare diseases and the doctors who treat them, according to Marshall Summar, MD, chief of genetics and metabolism at Children’s National Medical Center in Washington, D.C.
In an interview at the NORD Rare Summit, held by the National Organization for Rare Disorders, Dr. Summar and Peter L. Saltonstall, president and CEO of NORD, discussed hot topics in the rare disease field. Those include new knowledge of the natural history of rare diseases, made possible by the creation of patient databases and the expansion of genetic technology. In addition, some DNA therapies “are finally crossing the finish line,” said Dr. Summar. That means clinicians will be looking at some rare diseases as acute conditions rather than chronic.
However, patients with rare diseases continue to face challenges in terms of the need for prior authorization and for drug access. One of NORD’s missions is to help patients access treatment. “We are seeing these prior authorizations take weeks or even longer,” Mr. Saltonstall said – and meanwhile, patients aren’t receiving therapy.
Visit rarediseases.org for more information about NORD’s ongoing research and advocacy efforts.
Dr. Summar and Mr. Saltonstall had no financial conflicts to disclose.
REPORTING FROM NORD SUMMIT 2018
Education and support enhance care for rare-disease patients
WASHINGTON – Physicians in primary and specialty care can provide guidance and support to patients with rare diseases by educating themselves about the resources available, according to Tim Boyd, director of state policy for the National Organization for Rare Disorders (NORD).
In an interview at the NORD Rare Summit, held by the National Organization for Rare Disorders, Mr. Boyd and Melinda Burnworth, PharmD, a pharmacist and NORD state volunteer from Arizona, discussed challenges faced by patients with rare diseases, including securing a correct diagnosis, accessing medication, and managing treatment going forward.
Physicians who understand some of the barriers to medication access can help advocate for their patients, explained Mr. Boyd, and those who know about resources for rare disorders can help make a diagnosis.
“All health care providers have an opportunity to enhance care for patients with rare disorders,” said Dr. Burnworth, author of the Rare Disease eResource Guide, available through the American Society of Health-System Pharmacists. Visit rarediseases.org for more information about NORD’s ongoing research and advocacy efforts.
Mr. Boyd and Dr. Burnworth had no financial conflicts to disclose.
WASHINGTON – Physicians in primary and specialty care can provide guidance and support to patients with rare diseases by educating themselves about the resources available, according to Tim Boyd, director of state policy for the National Organization for Rare Disorders (NORD).
In an interview at the NORD Rare Summit, held by the National Organization for Rare Disorders, Mr. Boyd and Melinda Burnworth, PharmD, a pharmacist and NORD state volunteer from Arizona, discussed challenges faced by patients with rare diseases, including securing a correct diagnosis, accessing medication, and managing treatment going forward.
Physicians who understand some of the barriers to medication access can help advocate for their patients, explained Mr. Boyd, and those who know about resources for rare disorders can help make a diagnosis.
“All health care providers have an opportunity to enhance care for patients with rare disorders,” said Dr. Burnworth, author of the Rare Disease eResource Guide, available through the American Society of Health-System Pharmacists. Visit rarediseases.org for more information about NORD’s ongoing research and advocacy efforts.
Mr. Boyd and Dr. Burnworth had no financial conflicts to disclose.
WASHINGTON – Physicians in primary and specialty care can provide guidance and support to patients with rare diseases by educating themselves about the resources available, according to Tim Boyd, director of state policy for the National Organization for Rare Disorders (NORD).
In an interview at the NORD Rare Summit, held by the National Organization for Rare Disorders, Mr. Boyd and Melinda Burnworth, PharmD, a pharmacist and NORD state volunteer from Arizona, discussed challenges faced by patients with rare diseases, including securing a correct diagnosis, accessing medication, and managing treatment going forward.
Physicians who understand some of the barriers to medication access can help advocate for their patients, explained Mr. Boyd, and those who know about resources for rare disorders can help make a diagnosis.
“All health care providers have an opportunity to enhance care for patients with rare disorders,” said Dr. Burnworth, author of the Rare Disease eResource Guide, available through the American Society of Health-System Pharmacists. Visit rarediseases.org for more information about NORD’s ongoing research and advocacy efforts.
Mr. Boyd and Dr. Burnworth had no financial conflicts to disclose.
REPORTING FROM NORD SUMMIT 2018
Robot-assisted laparoscopic tubal anastomosis following sterilization
Female sterilization is the most common method of contraception worldwide, and the second most common contraceptive method used in the United States. Approximately 643,000 sterilization procedures are performed annually.1 Approximately 1% to 3% of women who undergo sterilization will subsequently undergo a sterilization reversal.2 Although multiple variables have been identified, change in marital status is the most commonly cited reason for desiring a tubal reversal.3,4 Tubal anastomosis can be a technically challenging surgical procedure when done by laparoscopy, especially given the microsurgical elements that are required. Several modifications, including limiting the number of sutures, have evolved as a result of its tedious nature.5 By leveraging 3D magnification, articulating instruments, and tremor filtration, it is only natural that robotic surgery has been applied to tubal anastomosis.
In this video, we review some background information surrounding a tubal reversal, followed by demonstration of a robotic interpretation of a 2-stitch anastomosis technique in a patient who successfully conceived and delivered.6 Overall robot-assisted laparoscopic tubal anastomosis is a feasible and safe option for women who desire reversal of surgical sterilization, with pregnancy and live-birth rates comparable to those observed when an open technique is utilized.7 I hope that you will find this video beneficial to your clinical practice.
- Chan LM, Westhoff CL. Tubal sterilization trends in the United States. Fertil Steril. 2010;94:1-6.
- Moss CC. Sterilization: a review and update. Obstet Gynecol Clin North Am. 2015-12-01;42:713-724.
- Gordts S, Campo R, Puttemans P, Gordts S. Clinical factors determining pregnancy outcome after microsurgical tubal anastomosis. Fertil Steril. 2009;92:1198-1202.
- Chi I-C, Jones DB. Incidence, risk factors, and prevention of poststerilization regret in women. Obstet Gynecol Surv. 1994;49:722-732.
- Dubuisson JB, Swolin K. Laparoscopic tubal anastomosis (the one stitch technique): preliminary results. Human Reprod. 1995;10:2044-2046.
- Bissonnette FCA, Lapensee L, Bouzayen R. Outpatient laparoscopic tubal anastomosis and subsequent fertility. Fertil Steril. 1999;72:549-552.
- Caillet M, Vandromme J, Rozenberg S, Paesmans M, Germay O, Degueldre M. Robotically assisted laparoscopic microsurgical tubal anastomosis: a retrospective study. Fertil Steril. 2010;94:1844-1847.
Female sterilization is the most common method of contraception worldwide, and the second most common contraceptive method used in the United States. Approximately 643,000 sterilization procedures are performed annually.1 Approximately 1% to 3% of women who undergo sterilization will subsequently undergo a sterilization reversal.2 Although multiple variables have been identified, change in marital status is the most commonly cited reason for desiring a tubal reversal.3,4 Tubal anastomosis can be a technically challenging surgical procedure when done by laparoscopy, especially given the microsurgical elements that are required. Several modifications, including limiting the number of sutures, have evolved as a result of its tedious nature.5 By leveraging 3D magnification, articulating instruments, and tremor filtration, it is only natural that robotic surgery has been applied to tubal anastomosis.
In this video, we review some background information surrounding a tubal reversal, followed by demonstration of a robotic interpretation of a 2-stitch anastomosis technique in a patient who successfully conceived and delivered.6 Overall robot-assisted laparoscopic tubal anastomosis is a feasible and safe option for women who desire reversal of surgical sterilization, with pregnancy and live-birth rates comparable to those observed when an open technique is utilized.7 I hope that you will find this video beneficial to your clinical practice.
Female sterilization is the most common method of contraception worldwide, and the second most common contraceptive method used in the United States. Approximately 643,000 sterilization procedures are performed annually.1 Approximately 1% to 3% of women who undergo sterilization will subsequently undergo a sterilization reversal.2 Although multiple variables have been identified, change in marital status is the most commonly cited reason for desiring a tubal reversal.3,4 Tubal anastomosis can be a technically challenging surgical procedure when done by laparoscopy, especially given the microsurgical elements that are required. Several modifications, including limiting the number of sutures, have evolved as a result of its tedious nature.5 By leveraging 3D magnification, articulating instruments, and tremor filtration, it is only natural that robotic surgery has been applied to tubal anastomosis.
In this video, we review some background information surrounding a tubal reversal, followed by demonstration of a robotic interpretation of a 2-stitch anastomosis technique in a patient who successfully conceived and delivered.6 Overall robot-assisted laparoscopic tubal anastomosis is a feasible and safe option for women who desire reversal of surgical sterilization, with pregnancy and live-birth rates comparable to those observed when an open technique is utilized.7 I hope that you will find this video beneficial to your clinical practice.
- Chan LM, Westhoff CL. Tubal sterilization trends in the United States. Fertil Steril. 2010;94:1-6.
- Moss CC. Sterilization: a review and update. Obstet Gynecol Clin North Am. 2015-12-01;42:713-724.
- Gordts S, Campo R, Puttemans P, Gordts S. Clinical factors determining pregnancy outcome after microsurgical tubal anastomosis. Fertil Steril. 2009;92:1198-1202.
- Chi I-C, Jones DB. Incidence, risk factors, and prevention of poststerilization regret in women. Obstet Gynecol Surv. 1994;49:722-732.
- Dubuisson JB, Swolin K. Laparoscopic tubal anastomosis (the one stitch technique): preliminary results. Human Reprod. 1995;10:2044-2046.
- Bissonnette FCA, Lapensee L, Bouzayen R. Outpatient laparoscopic tubal anastomosis and subsequent fertility. Fertil Steril. 1999;72:549-552.
- Caillet M, Vandromme J, Rozenberg S, Paesmans M, Germay O, Degueldre M. Robotically assisted laparoscopic microsurgical tubal anastomosis: a retrospective study. Fertil Steril. 2010;94:1844-1847.
- Chan LM, Westhoff CL. Tubal sterilization trends in the United States. Fertil Steril. 2010;94:1-6.
- Moss CC. Sterilization: a review and update. Obstet Gynecol Clin North Am. 2015-12-01;42:713-724.
- Gordts S, Campo R, Puttemans P, Gordts S. Clinical factors determining pregnancy outcome after microsurgical tubal anastomosis. Fertil Steril. 2009;92:1198-1202.
- Chi I-C, Jones DB. Incidence, risk factors, and prevention of poststerilization regret in women. Obstet Gynecol Surv. 1994;49:722-732.
- Dubuisson JB, Swolin K. Laparoscopic tubal anastomosis (the one stitch technique): preliminary results. Human Reprod. 1995;10:2044-2046.
- Bissonnette FCA, Lapensee L, Bouzayen R. Outpatient laparoscopic tubal anastomosis and subsequent fertility. Fertil Steril. 1999;72:549-552.
- Caillet M, Vandromme J, Rozenberg S, Paesmans M, Germay O, Degueldre M. Robotically assisted laparoscopic microsurgical tubal anastomosis: a retrospective study. Fertil Steril. 2010;94:1844-1847.
Drafts of new classification criteria presented for GCA, Takayasu’s arteritis
CHICAGO – Drafts of new classification criteria for giant cell arteritis and Takayasu’s arteritis developed by the American College of Rheumatology and the European League Against Rheumatism (EULAR) reflect the increasingly important role of advanced vascular imaging in the diagnosis and management of large-vessel vasculitis, according to Peter A. Merkel, MD.
The drafts, which are the result of a multiyear collaboration between the ACR and EULAR, were presented at the annual meeting of the ACR and will be submitted to the ACR/EULAR committee overseeing the work for comprehensive review and possible revisions. Once endorsed, the new criteria will replace the “extremely important,” but outdated, existing classification criteria, which were published in 1990.
“What we’ve done is, rather than purely revise the 1990 [criteria], we’ve started again from scratch ... with a great number of cases from a wide variety of centers throughout the world. This was a very large international effort ... really a great community effort in the field of rheumatology,” Dr. Merkel, professor and chief of the division of rheumatology at the University of Pennsylvania, Philadelphia, and one of the chief investigators for the project, said in a video interview.
The new criteria will allow for better classification of patients with giant cell arteritis versus Takayasu’s arteritis versus another form of vasculitis, he said, noting that advances in imaging that allow for “more enriched data with which to make decisions” play a large role.
However, the new criteria are not meant to be used for diagnosis, but to “sort out among the different types of vasculitis,” he said.
“It provides awareness and it provides a tool, especially for research investigation, but that seeps out into the broader community,” he added.
Dr. Merkel reported having no disclosures.
SOURCE: Merkel PA et al. ACR Annual Meeting, Presentation 5T116.
CHICAGO – Drafts of new classification criteria for giant cell arteritis and Takayasu’s arteritis developed by the American College of Rheumatology and the European League Against Rheumatism (EULAR) reflect the increasingly important role of advanced vascular imaging in the diagnosis and management of large-vessel vasculitis, according to Peter A. Merkel, MD.
The drafts, which are the result of a multiyear collaboration between the ACR and EULAR, were presented at the annual meeting of the ACR and will be submitted to the ACR/EULAR committee overseeing the work for comprehensive review and possible revisions. Once endorsed, the new criteria will replace the “extremely important,” but outdated, existing classification criteria, which were published in 1990.
“What we’ve done is, rather than purely revise the 1990 [criteria], we’ve started again from scratch ... with a great number of cases from a wide variety of centers throughout the world. This was a very large international effort ... really a great community effort in the field of rheumatology,” Dr. Merkel, professor and chief of the division of rheumatology at the University of Pennsylvania, Philadelphia, and one of the chief investigators for the project, said in a video interview.
The new criteria will allow for better classification of patients with giant cell arteritis versus Takayasu’s arteritis versus another form of vasculitis, he said, noting that advances in imaging that allow for “more enriched data with which to make decisions” play a large role.
However, the new criteria are not meant to be used for diagnosis, but to “sort out among the different types of vasculitis,” he said.
“It provides awareness and it provides a tool, especially for research investigation, but that seeps out into the broader community,” he added.
Dr. Merkel reported having no disclosures.
SOURCE: Merkel PA et al. ACR Annual Meeting, Presentation 5T116.
CHICAGO – Drafts of new classification criteria for giant cell arteritis and Takayasu’s arteritis developed by the American College of Rheumatology and the European League Against Rheumatism (EULAR) reflect the increasingly important role of advanced vascular imaging in the diagnosis and management of large-vessel vasculitis, according to Peter A. Merkel, MD.
The drafts, which are the result of a multiyear collaboration between the ACR and EULAR, were presented at the annual meeting of the ACR and will be submitted to the ACR/EULAR committee overseeing the work for comprehensive review and possible revisions. Once endorsed, the new criteria will replace the “extremely important,” but outdated, existing classification criteria, which were published in 1990.
“What we’ve done is, rather than purely revise the 1990 [criteria], we’ve started again from scratch ... with a great number of cases from a wide variety of centers throughout the world. This was a very large international effort ... really a great community effort in the field of rheumatology,” Dr. Merkel, professor and chief of the division of rheumatology at the University of Pennsylvania, Philadelphia, and one of the chief investigators for the project, said in a video interview.
The new criteria will allow for better classification of patients with giant cell arteritis versus Takayasu’s arteritis versus another form of vasculitis, he said, noting that advances in imaging that allow for “more enriched data with which to make decisions” play a large role.
However, the new criteria are not meant to be used for diagnosis, but to “sort out among the different types of vasculitis,” he said.
“It provides awareness and it provides a tool, especially for research investigation, but that seeps out into the broader community,” he added.
Dr. Merkel reported having no disclosures.
SOURCE: Merkel PA et al. ACR Annual Meeting, Presentation 5T116.
REPORTING FROM THE ACR ANNUAL MEETING
Innovations in Dermatology: Antibiotic Stewardship in Acne Therapy
FFR by wire may soon be obsolete
SAN DIEGO – Angiograms can be deceiving, so it’s best to measure fractional flow reserve (FFR) across coronary obstructions to gauge patients’ true need for intervention. That’s hardly news to cardiologists, but FFR is not often done. The problem is that traditional measurement requires threading wires down coronary arteries; the technique is a bit risky and takes time and training. It also has to be repeated for each lesion.
But now, several companies are developing noninvasive ways to measure FFR.
Findings from one of them, CathWorks, were presented at the Transcatheter Cardiovascular Therapeutics annual meeting sponsored by the Cardiovascular Research Foundation. Its FFRangio system uses high-quality angiograms and an algorithm to estimate resistance and flow across stenoses. After a few cases, the process takes less than 5 minutes (Circulation. 2018 Sep 24. doi: 10.1161/CIRCULATIONAHA.118.037350).
“I think this is a big breakthrough. ... Ultimately, it should lead to better patient outcomes,” said lead investigator William Fearon, MD, professor of cardiology at Stanford University, Calif.
In an interview at TCT 2018, Dr. Fearon explained the importance of FFR, the data for FFRangio, and what’s coming down the pike from other companies. He disclosed institutional research grants from the company.
SAN DIEGO – Angiograms can be deceiving, so it’s best to measure fractional flow reserve (FFR) across coronary obstructions to gauge patients’ true need for intervention. That’s hardly news to cardiologists, but FFR is not often done. The problem is that traditional measurement requires threading wires down coronary arteries; the technique is a bit risky and takes time and training. It also has to be repeated for each lesion.
But now, several companies are developing noninvasive ways to measure FFR.
Findings from one of them, CathWorks, were presented at the Transcatheter Cardiovascular Therapeutics annual meeting sponsored by the Cardiovascular Research Foundation. Its FFRangio system uses high-quality angiograms and an algorithm to estimate resistance and flow across stenoses. After a few cases, the process takes less than 5 minutes (Circulation. 2018 Sep 24. doi: 10.1161/CIRCULATIONAHA.118.037350).
“I think this is a big breakthrough. ... Ultimately, it should lead to better patient outcomes,” said lead investigator William Fearon, MD, professor of cardiology at Stanford University, Calif.
In an interview at TCT 2018, Dr. Fearon explained the importance of FFR, the data for FFRangio, and what’s coming down the pike from other companies. He disclosed institutional research grants from the company.
SAN DIEGO – Angiograms can be deceiving, so it’s best to measure fractional flow reserve (FFR) across coronary obstructions to gauge patients’ true need for intervention. That’s hardly news to cardiologists, but FFR is not often done. The problem is that traditional measurement requires threading wires down coronary arteries; the technique is a bit risky and takes time and training. It also has to be repeated for each lesion.
But now, several companies are developing noninvasive ways to measure FFR.
Findings from one of them, CathWorks, were presented at the Transcatheter Cardiovascular Therapeutics annual meeting sponsored by the Cardiovascular Research Foundation. Its FFRangio system uses high-quality angiograms and an algorithm to estimate resistance and flow across stenoses. After a few cases, the process takes less than 5 minutes (Circulation. 2018 Sep 24. doi: 10.1161/CIRCULATIONAHA.118.037350).
“I think this is a big breakthrough. ... Ultimately, it should lead to better patient outcomes,” said lead investigator William Fearon, MD, professor of cardiology at Stanford University, Calif.
In an interview at TCT 2018, Dr. Fearon explained the importance of FFR, the data for FFRangio, and what’s coming down the pike from other companies. He disclosed institutional research grants from the company.
REPORTING FROM TCT 2018