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CSF2RB mutation, common in Ashkenazim, linked to Crohn’s
A frameshift mutation in the CSF2RB gene that is common in Ashkenazi Jews has been linked to Crohn’s disease, according to a report in Gastroenterology.
The Ashkenazi Jewish population has a four- to sevenfold higher prevalence of Crohn’s disease than does the general population. To identify possible genetic mutations associated with the disease, researchers performed exome sequencing of samples from 1,477 Ashkenazi Jewish patients with Crohn’s disease and 2,614 Ashkenazi Jewish control subjects who didn’t have the disorder. All the study participants were enrolled at medical centers throughout North America, Europe, and Israel, noted Ling-Shiang Chuang, PhD, a postdoctoral fellow in genetics and genomic sciences, Mount Sinai Medical Center, New York, and his associates.
They genotyped 224 frameshift mutations and identified one in the colony-stimulating factor 2–receptor beta common subunit (CSF2RB) gene that was significantly associated with Crohn’s disease. They validated this association in a replication cohort of 1,515 Ashkenazi Jewish patients with Crohn’s disease and 7,052 health Ashkenazi control subjects, observing nearly identical allele frequencies and odds ratios as in the discovery cohort.
Since the CSF2RB gene encodes for the receptor for GM-CSF (granulocyte-macrophage colony-stimulating factor) cytokines, the mutation would be expected to reduce GM-CSF signaling in monocytes obtained from carriers. The investigators found this was true when they examined monocytes taken from intestinal-tissue samples and peripheral-blood samples from affected patients.
“The present findings of a loss-of-function frameshift variant in the CSF2RB gene argue for a primary pathogenic role of decreased GM-CSF signaling in driving a subset of Crohn’s disease cases. As many as 30% of cases have increased levels of anti-GM-CSF antibodies, which can neutralize GM-CSF activity, indicating that impaired GM-CSF signaling plays a major role in Crohn’s disease,” Dr. Chuang and his associates wrote (Gastroenterol. 2016;151:710-23.e2. doi: 10.1053/j.gastro.2016.06.045).
Future research may identify subgroups of Crohn’s patients in which treatments that target GM-CSF signaling may be effective, and it may also point the way to novel therapies for the broader population of patients with Crohn’s disease, they added.
This study was supported by the National Institutes of Health, the Inflammatory Bowel Disease Genetics Consortium, the Genetic Research Center at Mount Sinai Medical Center, New York’s Crohn’s Foundation, and several others. Dr. Chuang and his associates reported having no relevant financial disclosures.
Genome-wide association studies (GWASs) have identified over 200 DNA mutations (mainly single nucleotide polymorphisms, SNPs) contributing to inflammatory bowel disease. However, their causality in IBD remains unknown. In the post-GWAS era, functional characterization and mechanistic elucidation of these SNPs is a major challenge. SNPs impacting the protein-coding genes can drastically alter protein function and play an important role in molecular pathogenesis. However, most SNPs are in noncoding genes and their impact on gene regulation and disease outcome remains largely unknown. This study reveals a frameshift mutation in the CSF2RB gene associated with Crohn’s disease in an Ashkenazi Jewish population. A frameshift mutation results in the deletion or insertion in a DNA sequence that shifts the way the sequence is transcribed into RNA. The most well described frameshift mutation in Crohn’s disease with clinical relevance is in the NOD2 gene, which results in impaired immune response to microbial stimuli. Because GWASs show association not causality, the biological consequence of the CSF2RB frameshift mutation in intestinal macrophages leads to a decrease in its response to granulocyte-monocyte stimulating factor (GM-CSF) providing a potential mechanistic role for the mutation in Crohn’s disease pathogenesis in a disease-relevant cell and site. This study will pave the way for future important studies that reveal the impact of SNPs on Crohn’s disease development, prognosis, and eventually response to therapy.
Shehzad Z. Sheikh MD, PhD, assistant professor of medicine, department of medicine, division of gastroenterology and hepatology, University of North Carolina, Chapel Hill.
Genome-wide association studies (GWASs) have identified over 200 DNA mutations (mainly single nucleotide polymorphisms, SNPs) contributing to inflammatory bowel disease. However, their causality in IBD remains unknown. In the post-GWAS era, functional characterization and mechanistic elucidation of these SNPs is a major challenge. SNPs impacting the protein-coding genes can drastically alter protein function and play an important role in molecular pathogenesis. However, most SNPs are in noncoding genes and their impact on gene regulation and disease outcome remains largely unknown. This study reveals a frameshift mutation in the CSF2RB gene associated with Crohn’s disease in an Ashkenazi Jewish population. A frameshift mutation results in the deletion or insertion in a DNA sequence that shifts the way the sequence is transcribed into RNA. The most well described frameshift mutation in Crohn’s disease with clinical relevance is in the NOD2 gene, which results in impaired immune response to microbial stimuli. Because GWASs show association not causality, the biological consequence of the CSF2RB frameshift mutation in intestinal macrophages leads to a decrease in its response to granulocyte-monocyte stimulating factor (GM-CSF) providing a potential mechanistic role for the mutation in Crohn’s disease pathogenesis in a disease-relevant cell and site. This study will pave the way for future important studies that reveal the impact of SNPs on Crohn’s disease development, prognosis, and eventually response to therapy.
Shehzad Z. Sheikh MD, PhD, assistant professor of medicine, department of medicine, division of gastroenterology and hepatology, University of North Carolina, Chapel Hill.
Genome-wide association studies (GWASs) have identified over 200 DNA mutations (mainly single nucleotide polymorphisms, SNPs) contributing to inflammatory bowel disease. However, their causality in IBD remains unknown. In the post-GWAS era, functional characterization and mechanistic elucidation of these SNPs is a major challenge. SNPs impacting the protein-coding genes can drastically alter protein function and play an important role in molecular pathogenesis. However, most SNPs are in noncoding genes and their impact on gene regulation and disease outcome remains largely unknown. This study reveals a frameshift mutation in the CSF2RB gene associated with Crohn’s disease in an Ashkenazi Jewish population. A frameshift mutation results in the deletion or insertion in a DNA sequence that shifts the way the sequence is transcribed into RNA. The most well described frameshift mutation in Crohn’s disease with clinical relevance is in the NOD2 gene, which results in impaired immune response to microbial stimuli. Because GWASs show association not causality, the biological consequence of the CSF2RB frameshift mutation in intestinal macrophages leads to a decrease in its response to granulocyte-monocyte stimulating factor (GM-CSF) providing a potential mechanistic role for the mutation in Crohn’s disease pathogenesis in a disease-relevant cell and site. This study will pave the way for future important studies that reveal the impact of SNPs on Crohn’s disease development, prognosis, and eventually response to therapy.
Shehzad Z. Sheikh MD, PhD, assistant professor of medicine, department of medicine, division of gastroenterology and hepatology, University of North Carolina, Chapel Hill.
A frameshift mutation in the CSF2RB gene that is common in Ashkenazi Jews has been linked to Crohn’s disease, according to a report in Gastroenterology.
The Ashkenazi Jewish population has a four- to sevenfold higher prevalence of Crohn’s disease than does the general population. To identify possible genetic mutations associated with the disease, researchers performed exome sequencing of samples from 1,477 Ashkenazi Jewish patients with Crohn’s disease and 2,614 Ashkenazi Jewish control subjects who didn’t have the disorder. All the study participants were enrolled at medical centers throughout North America, Europe, and Israel, noted Ling-Shiang Chuang, PhD, a postdoctoral fellow in genetics and genomic sciences, Mount Sinai Medical Center, New York, and his associates.
They genotyped 224 frameshift mutations and identified one in the colony-stimulating factor 2–receptor beta common subunit (CSF2RB) gene that was significantly associated with Crohn’s disease. They validated this association in a replication cohort of 1,515 Ashkenazi Jewish patients with Crohn’s disease and 7,052 health Ashkenazi control subjects, observing nearly identical allele frequencies and odds ratios as in the discovery cohort.
Since the CSF2RB gene encodes for the receptor for GM-CSF (granulocyte-macrophage colony-stimulating factor) cytokines, the mutation would be expected to reduce GM-CSF signaling in monocytes obtained from carriers. The investigators found this was true when they examined monocytes taken from intestinal-tissue samples and peripheral-blood samples from affected patients.
“The present findings of a loss-of-function frameshift variant in the CSF2RB gene argue for a primary pathogenic role of decreased GM-CSF signaling in driving a subset of Crohn’s disease cases. As many as 30% of cases have increased levels of anti-GM-CSF antibodies, which can neutralize GM-CSF activity, indicating that impaired GM-CSF signaling plays a major role in Crohn’s disease,” Dr. Chuang and his associates wrote (Gastroenterol. 2016;151:710-23.e2. doi: 10.1053/j.gastro.2016.06.045).
Future research may identify subgroups of Crohn’s patients in which treatments that target GM-CSF signaling may be effective, and it may also point the way to novel therapies for the broader population of patients with Crohn’s disease, they added.
This study was supported by the National Institutes of Health, the Inflammatory Bowel Disease Genetics Consortium, the Genetic Research Center at Mount Sinai Medical Center, New York’s Crohn’s Foundation, and several others. Dr. Chuang and his associates reported having no relevant financial disclosures.
A frameshift mutation in the CSF2RB gene that is common in Ashkenazi Jews has been linked to Crohn’s disease, according to a report in Gastroenterology.
The Ashkenazi Jewish population has a four- to sevenfold higher prevalence of Crohn’s disease than does the general population. To identify possible genetic mutations associated with the disease, researchers performed exome sequencing of samples from 1,477 Ashkenazi Jewish patients with Crohn’s disease and 2,614 Ashkenazi Jewish control subjects who didn’t have the disorder. All the study participants were enrolled at medical centers throughout North America, Europe, and Israel, noted Ling-Shiang Chuang, PhD, a postdoctoral fellow in genetics and genomic sciences, Mount Sinai Medical Center, New York, and his associates.
They genotyped 224 frameshift mutations and identified one in the colony-stimulating factor 2–receptor beta common subunit (CSF2RB) gene that was significantly associated with Crohn’s disease. They validated this association in a replication cohort of 1,515 Ashkenazi Jewish patients with Crohn’s disease and 7,052 health Ashkenazi control subjects, observing nearly identical allele frequencies and odds ratios as in the discovery cohort.
Since the CSF2RB gene encodes for the receptor for GM-CSF (granulocyte-macrophage colony-stimulating factor) cytokines, the mutation would be expected to reduce GM-CSF signaling in monocytes obtained from carriers. The investigators found this was true when they examined monocytes taken from intestinal-tissue samples and peripheral-blood samples from affected patients.
“The present findings of a loss-of-function frameshift variant in the CSF2RB gene argue for a primary pathogenic role of decreased GM-CSF signaling in driving a subset of Crohn’s disease cases. As many as 30% of cases have increased levels of anti-GM-CSF antibodies, which can neutralize GM-CSF activity, indicating that impaired GM-CSF signaling plays a major role in Crohn’s disease,” Dr. Chuang and his associates wrote (Gastroenterol. 2016;151:710-23.e2. doi: 10.1053/j.gastro.2016.06.045).
Future research may identify subgroups of Crohn’s patients in which treatments that target GM-CSF signaling may be effective, and it may also point the way to novel therapies for the broader population of patients with Crohn’s disease, they added.
This study was supported by the National Institutes of Health, the Inflammatory Bowel Disease Genetics Consortium, the Genetic Research Center at Mount Sinai Medical Center, New York’s Crohn’s Foundation, and several others. Dr. Chuang and his associates reported having no relevant financial disclosures.
FROM GASTROENTEROLOGY
Key clinical point: A frameshift mutation in the CSF2RB gene that is common in Ashkenazi Jews has been linked to Crohn’s disease.
Major finding: Genotyping of 224 frameshift mutations identified one in the colony-stimulating factor 2–receptor common subunit (CSF2RB) gene that was significantly associated with Crohn’s disease.
Data source: Exome sequencing and genotype analyses of samples from 1,477 Ashkenazi Jewish people with Crohn’s disease and 2,614 without it.
Disclosures: This study was supported by the National Institutes of Health, the Inflammatory Bowel Disease Genetics Consortium, the Genetic Research Center at Mount Sinai Medical Center, New York’s Crohn’s Foundation, and several others. Dr. Chuang and his associates reported having no relevant financial disclosures.
Dexamethasone-associated posterior reversible encephalopathy syndrome
Simple interventions markedly improve hepatitis care
Several simple, inexpensive operational interventions substantially improve care for viral hepatitis, according to a report published in the Lancet.
Recent advances in treatment for chronic hepatitis B and chronic hepatitis C have the potential to halt or even reverse the progression of associated liver disease and to reduce related mortality, reported Kali Zhou, MD, of the division of gastroenterology, University of California, San Francisco, and her associates. But they can do so only if affected individuals are engaged and retained in the relatively long continuum of care, from diagnosis through viral suppression or cure.
To assess the usefulness of interventions that promote such patient engagement and retention, Dr. Zhou and her colleagues reviewed the scientific literature and performed a meta-analysis of 56 studies. They examined 15 studies on HBV care, 38 on HCV care, and 3 on both types of hepatitis (Lancet Infect Dis. 2016 Sep 5. doi: 10.1016/S1473-3099[16]30208-0).
Among their findings:
• Educating a single lay health worker to improve knowledge about the disease in his or her community and to promote diagnostic testing nearly tripled the testing rate (relative risk, 2.68), compared with no such intervention.
• Clinician reminders during regular office visits to consider hepatitis testing – such as prompts in the patients’ electronic medical records or stickers on their charts – nearly quadrupled the testing rate (RR, 3.70), compared with no clinician reminders.
• Providing guided referral to a hepatitis specialist for people at risk for the disorder markedly improved the rate of visits to such specialists (RR, 1.57), compared with no such referrals.
• Providing psychological counseling and motivational therapy for mental health and/or substance misuse problems along with medical care for hepatitis dramatically increased the number of patients treated (OR, 3.42) and raised the rate of treatment completion (RR, 1.14).
• Combining mental health, substance misuse, and hepatitis treatment services at one location increased the rate of treatment initiation (RR, 1.36), treatment adherence (RR, 1.22), and cure as measured by sustained virologic response rate (RR, 1.21), compared with usual care.
These interventions might be useful in augmenting hepatitis treatment programs worldwide, Dr. Zhou and her associates said.
The World Health Organization and the U.S. Fulbright Program supported the study. Dr. Zhou and her associates reported having no relevant financial disclosures.
This meta-analysis identified proven strategies that can be adopted widely and can become standard components of a package of health care services for viral hepatitis.
But it also revealed the need for additional high-quality data to guide the development of even more such strategies. Reducing the burden of hepatitis depends on helping patients navigate through diagnosis; referral to specialist care; completion of complex, long-term treatment; and linkages to related clinical services such as mental health or substance misuse counseling.
John W. Ward, MD, is director of the division of viral hepatitis at the Centers for Disease Control and Prevention, Atlanta. He reported having no relevant financial disclosures. Dr. Ward made these remarks in a comment accompanying Dr. Zhou’s report (Lancet. 2016 Sep 5; doi: 10.1016/S1473-3099[16]30272-9).
This meta-analysis identified proven strategies that can be adopted widely and can become standard components of a package of health care services for viral hepatitis.
But it also revealed the need for additional high-quality data to guide the development of even more such strategies. Reducing the burden of hepatitis depends on helping patients navigate through diagnosis; referral to specialist care; completion of complex, long-term treatment; and linkages to related clinical services such as mental health or substance misuse counseling.
John W. Ward, MD, is director of the division of viral hepatitis at the Centers for Disease Control and Prevention, Atlanta. He reported having no relevant financial disclosures. Dr. Ward made these remarks in a comment accompanying Dr. Zhou’s report (Lancet. 2016 Sep 5; doi: 10.1016/S1473-3099[16]30272-9).
This meta-analysis identified proven strategies that can be adopted widely and can become standard components of a package of health care services for viral hepatitis.
But it also revealed the need for additional high-quality data to guide the development of even more such strategies. Reducing the burden of hepatitis depends on helping patients navigate through diagnosis; referral to specialist care; completion of complex, long-term treatment; and linkages to related clinical services such as mental health or substance misuse counseling.
John W. Ward, MD, is director of the division of viral hepatitis at the Centers for Disease Control and Prevention, Atlanta. He reported having no relevant financial disclosures. Dr. Ward made these remarks in a comment accompanying Dr. Zhou’s report (Lancet. 2016 Sep 5; doi: 10.1016/S1473-3099[16]30272-9).
Several simple, inexpensive operational interventions substantially improve care for viral hepatitis, according to a report published in the Lancet.
Recent advances in treatment for chronic hepatitis B and chronic hepatitis C have the potential to halt or even reverse the progression of associated liver disease and to reduce related mortality, reported Kali Zhou, MD, of the division of gastroenterology, University of California, San Francisco, and her associates. But they can do so only if affected individuals are engaged and retained in the relatively long continuum of care, from diagnosis through viral suppression or cure.
To assess the usefulness of interventions that promote such patient engagement and retention, Dr. Zhou and her colleagues reviewed the scientific literature and performed a meta-analysis of 56 studies. They examined 15 studies on HBV care, 38 on HCV care, and 3 on both types of hepatitis (Lancet Infect Dis. 2016 Sep 5. doi: 10.1016/S1473-3099[16]30208-0).
Among their findings:
• Educating a single lay health worker to improve knowledge about the disease in his or her community and to promote diagnostic testing nearly tripled the testing rate (relative risk, 2.68), compared with no such intervention.
• Clinician reminders during regular office visits to consider hepatitis testing – such as prompts in the patients’ electronic medical records or stickers on their charts – nearly quadrupled the testing rate (RR, 3.70), compared with no clinician reminders.
• Providing guided referral to a hepatitis specialist for people at risk for the disorder markedly improved the rate of visits to such specialists (RR, 1.57), compared with no such referrals.
• Providing psychological counseling and motivational therapy for mental health and/or substance misuse problems along with medical care for hepatitis dramatically increased the number of patients treated (OR, 3.42) and raised the rate of treatment completion (RR, 1.14).
• Combining mental health, substance misuse, and hepatitis treatment services at one location increased the rate of treatment initiation (RR, 1.36), treatment adherence (RR, 1.22), and cure as measured by sustained virologic response rate (RR, 1.21), compared with usual care.
These interventions might be useful in augmenting hepatitis treatment programs worldwide, Dr. Zhou and her associates said.
The World Health Organization and the U.S. Fulbright Program supported the study. Dr. Zhou and her associates reported having no relevant financial disclosures.
Several simple, inexpensive operational interventions substantially improve care for viral hepatitis, according to a report published in the Lancet.
Recent advances in treatment for chronic hepatitis B and chronic hepatitis C have the potential to halt or even reverse the progression of associated liver disease and to reduce related mortality, reported Kali Zhou, MD, of the division of gastroenterology, University of California, San Francisco, and her associates. But they can do so only if affected individuals are engaged and retained in the relatively long continuum of care, from diagnosis through viral suppression or cure.
To assess the usefulness of interventions that promote such patient engagement and retention, Dr. Zhou and her colleagues reviewed the scientific literature and performed a meta-analysis of 56 studies. They examined 15 studies on HBV care, 38 on HCV care, and 3 on both types of hepatitis (Lancet Infect Dis. 2016 Sep 5. doi: 10.1016/S1473-3099[16]30208-0).
Among their findings:
• Educating a single lay health worker to improve knowledge about the disease in his or her community and to promote diagnostic testing nearly tripled the testing rate (relative risk, 2.68), compared with no such intervention.
• Clinician reminders during regular office visits to consider hepatitis testing – such as prompts in the patients’ electronic medical records or stickers on their charts – nearly quadrupled the testing rate (RR, 3.70), compared with no clinician reminders.
• Providing guided referral to a hepatitis specialist for people at risk for the disorder markedly improved the rate of visits to such specialists (RR, 1.57), compared with no such referrals.
• Providing psychological counseling and motivational therapy for mental health and/or substance misuse problems along with medical care for hepatitis dramatically increased the number of patients treated (OR, 3.42) and raised the rate of treatment completion (RR, 1.14).
• Combining mental health, substance misuse, and hepatitis treatment services at one location increased the rate of treatment initiation (RR, 1.36), treatment adherence (RR, 1.22), and cure as measured by sustained virologic response rate (RR, 1.21), compared with usual care.
These interventions might be useful in augmenting hepatitis treatment programs worldwide, Dr. Zhou and her associates said.
The World Health Organization and the U.S. Fulbright Program supported the study. Dr. Zhou and her associates reported having no relevant financial disclosures.
FROM THE LANCET
Key clinical point: Several simple, inexpensive operational interventions substantially improve care for viral hepatitis.
Major finding: Clinician reminders during regular office visits to consider hepatitis testing – such as prompts in the patients’ electronic medical records or stickers on their charts – nearly quadrupled the testing rate (relative risk, 3.70).
Data source: A meta-analysis of 56 studies worldwide assessing interventions to improve HBV and HCV care.
Disclosures: The World Health Organization and the U.S. Fulbright Program supported the study. Dr. Zhou and her associates reported having no relevant financial disclosures.
A positive attitude in prostate cancer challenges: finding hope and optimism
Background Prostate cancer affects not only men with the disease, but their partners and families as well. These affects can include changes to everyday lifestyle activities, incontinence, and sexual dysfunction, and sometimes, relationships.
Objective To find out how men with prostate cancer and their female partners found spiritual lift and hope during the prostate cancer trajectory.
Methods The very personal and human nature of the question suggested that a qualitative approach with narrative inquiry would be the most appropriate. Comments were obtained from 10 men and 10 women who were not in a relationship with each other and from 10 couples (N = 40) and then subjected to narrative and thematic analysis.
Results The participants’ activities and circumstances provided their lift – rising above the everyday mundane – and their hope – optimism for the future – and helped them cope. In addition, what emerged was interesting insights on the way in which the participants associated these concepts with having a positive attitude in their life. They provided some valuable information on what constitutes being positive that will be helpful to others in similar circumstances, and to health professionals.
Limitations The information from a relatively small number of participants needs to be interpreted carefully and cannot result in strong conclusions about the nature of the results.
Conclusions Being positive during a time of illness and when dealing with the consequences of the illness, is an important element in coping. However, an understanding of the practicalities of what it means to be positive needs to be thoroughly developed and understood.
Click on the PDF icon at the top of this introduction to read the full article.
Background Prostate cancer affects not only men with the disease, but their partners and families as well. These affects can include changes to everyday lifestyle activities, incontinence, and sexual dysfunction, and sometimes, relationships.
Objective To find out how men with prostate cancer and their female partners found spiritual lift and hope during the prostate cancer trajectory.
Methods The very personal and human nature of the question suggested that a qualitative approach with narrative inquiry would be the most appropriate. Comments were obtained from 10 men and 10 women who were not in a relationship with each other and from 10 couples (N = 40) and then subjected to narrative and thematic analysis.
Results The participants’ activities and circumstances provided their lift – rising above the everyday mundane – and their hope – optimism for the future – and helped them cope. In addition, what emerged was interesting insights on the way in which the participants associated these concepts with having a positive attitude in their life. They provided some valuable information on what constitutes being positive that will be helpful to others in similar circumstances, and to health professionals.
Limitations The information from a relatively small number of participants needs to be interpreted carefully and cannot result in strong conclusions about the nature of the results.
Conclusions Being positive during a time of illness and when dealing with the consequences of the illness, is an important element in coping. However, an understanding of the practicalities of what it means to be positive needs to be thoroughly developed and understood.
Click on the PDF icon at the top of this introduction to read the full article.
Background Prostate cancer affects not only men with the disease, but their partners and families as well. These affects can include changes to everyday lifestyle activities, incontinence, and sexual dysfunction, and sometimes, relationships.
Objective To find out how men with prostate cancer and their female partners found spiritual lift and hope during the prostate cancer trajectory.
Methods The very personal and human nature of the question suggested that a qualitative approach with narrative inquiry would be the most appropriate. Comments were obtained from 10 men and 10 women who were not in a relationship with each other and from 10 couples (N = 40) and then subjected to narrative and thematic analysis.
Results The participants’ activities and circumstances provided their lift – rising above the everyday mundane – and their hope – optimism for the future – and helped them cope. In addition, what emerged was interesting insights on the way in which the participants associated these concepts with having a positive attitude in their life. They provided some valuable information on what constitutes being positive that will be helpful to others in similar circumstances, and to health professionals.
Limitations The information from a relatively small number of participants needs to be interpreted carefully and cannot result in strong conclusions about the nature of the results.
Conclusions Being positive during a time of illness and when dealing with the consequences of the illness, is an important element in coping. However, an understanding of the practicalities of what it means to be positive needs to be thoroughly developed and understood.
Click on the PDF icon at the top of this introduction to read the full article.
Evaluation of a policy of lymph node retrieval for colon cancer specimens: a quality improvement opportunity
Dental oncology in patients treated with radiation for head and neck cancer
The dentition of head and neck cancer patients is of utmost importance when they receive radiation therapy, especially because patients are living longer after a course of head and neck radiation. Good communication among the oncology team members (the radiation and medical oncologists, the maxillofacial prosthodontist/dental oncologist, otolaryngologist, reconstructive surgeon, nursing support) and the patient is essential initially, and subsequently including the general dentist as well. The aim of this primer for all those caring for patients with head and neck cancer is to underscore the important role of the dental oncologist during all phases of radiation therapy, and to provide guidelines to minimize and prevent dental complications such as radiation-induced caries and ORN.
Click on the PDF icon at the top of this introduction to read the full article.
The dentition of head and neck cancer patients is of utmost importance when they receive radiation therapy, especially because patients are living longer after a course of head and neck radiation. Good communication among the oncology team members (the radiation and medical oncologists, the maxillofacial prosthodontist/dental oncologist, otolaryngologist, reconstructive surgeon, nursing support) and the patient is essential initially, and subsequently including the general dentist as well. The aim of this primer for all those caring for patients with head and neck cancer is to underscore the important role of the dental oncologist during all phases of radiation therapy, and to provide guidelines to minimize and prevent dental complications such as radiation-induced caries and ORN.
Click on the PDF icon at the top of this introduction to read the full article.
The dentition of head and neck cancer patients is of utmost importance when they receive radiation therapy, especially because patients are living longer after a course of head and neck radiation. Good communication among the oncology team members (the radiation and medical oncologists, the maxillofacial prosthodontist/dental oncologist, otolaryngologist, reconstructive surgeon, nursing support) and the patient is essential initially, and subsequently including the general dentist as well. The aim of this primer for all those caring for patients with head and neck cancer is to underscore the important role of the dental oncologist during all phases of radiation therapy, and to provide guidelines to minimize and prevent dental complications such as radiation-induced caries and ORN.
Click on the PDF icon at the top of this introduction to read the full article.
Delayed or on schedule, MACRA is on its way
As 2016 winds down, we are already gearing up for the 2019 implementation of the Medicare Access and CHIP Reauthorization Act, or MACRA. The bipartisan 2015 legislation will replace the current sustainable growth rate as well as streamline the existing quality reporting programs and redirect us from the current volume-based Medicare payments to value- and performance-based payments. On page 394 of this issue, two community- based colleagues, JCSO Editor Dr Linda Bosserman and Dr Robin Zon, a community oncologist and chair of the American Society of Clinical Oncology’s Task Force on Clinical Pathways, discuss the ins and outs of MACRA – what it is, what it replaces, how it will work, and what we need to be doing to prepare for its implementation in 2019.
Click on the PDF icon at the top of this introduction to read the full article.
As 2016 winds down, we are already gearing up for the 2019 implementation of the Medicare Access and CHIP Reauthorization Act, or MACRA. The bipartisan 2015 legislation will replace the current sustainable growth rate as well as streamline the existing quality reporting programs and redirect us from the current volume-based Medicare payments to value- and performance-based payments. On page 394 of this issue, two community- based colleagues, JCSO Editor Dr Linda Bosserman and Dr Robin Zon, a community oncologist and chair of the American Society of Clinical Oncology’s Task Force on Clinical Pathways, discuss the ins and outs of MACRA – what it is, what it replaces, how it will work, and what we need to be doing to prepare for its implementation in 2019.
Click on the PDF icon at the top of this introduction to read the full article.
As 2016 winds down, we are already gearing up for the 2019 implementation of the Medicare Access and CHIP Reauthorization Act, or MACRA. The bipartisan 2015 legislation will replace the current sustainable growth rate as well as streamline the existing quality reporting programs and redirect us from the current volume-based Medicare payments to value- and performance-based payments. On page 394 of this issue, two community- based colleagues, JCSO Editor Dr Linda Bosserman and Dr Robin Zon, a community oncologist and chair of the American Society of Clinical Oncology’s Task Force on Clinical Pathways, discuss the ins and outs of MACRA – what it is, what it replaces, how it will work, and what we need to be doing to prepare for its implementation in 2019.
Click on the PDF icon at the top of this introduction to read the full article.
What Distinguishes MS From Its Mimics?
HILTON HEAD—Multiple sclerosis (MS) is the most common demyelinating disease, and its mimics are rare, according to an overview provided at the 39th Annual Contemporary Clinical Neurology Symposium. Given that the treatments and outcomes for MS and its mimics are so different, neurologists should take care to establish a diagnosis early, said Sid Pawate, MD, Assistant Professor of Neurology at Vanderbilt University School of Medicine in Nashville.
Because of the varied clinical presentation of MS, a wide variety of conditions enter the differential diagnosis. Because of the central role that MRI plays in MS diagnosis, imaging mimics that cause white matter lesions also need to be considered, said Dr. Pawate. Typically, the white matter lesions seen in MS are periventricular, juxtacortical, and callososeptal in location. Infratentorially, cerebellar peduncles are a common site. The lesions tend to be ovoid, are 3 mm to 5 mm or larger, and appear hyperintense on T2 and FLAIR sequences. Acute lesions may show restricted diffusion or enhancement after the administration of gadolinium contrast.
Typical Presentations of MS
The three most common presentations of MS are transverse myelitis, optic neuritis, and brainstem–cerebellar dysfunction. Acute partial transverse myelitis is “the most classic” form of transverse myelitis among patients with MS, said Dr. Pawate. Acute complete transverse myelitis, on the other hand, may be postinfectious or idiopathic, or seen as part of acute disseminated encephalomyelitis (ADEM). Similarly, longitudinally extensive transverse myelitis is more suggestive of neuromyelitis optica spectrum disorders (NMOSD) than MS.
The most typical presentation of MS optic neuritis is unilateral and has acute or subacute onset. Patients often have retrobulbar, “gritty” pain when they move their eye. Complete blindness is unusual, and complete recovery occurs in nearly all patients. Hyperacute onset suggests a vascular process rather than optic neuritis, said Dr. Pawate. Slow, insidious onset may indicate an infiltrative process such as neoplasm or sarcoidosis. Painless vision loss may indicate ischemic optic neuropathy, and severe blindness without recovery may result from NMOSD.
The most pathognomonic brainstem dysfunction in MS is intranuclear ophthalmoplegia (INO), especially when it is bilateral. Other brainstem symptoms typical of MS include ataxia, painless diplopia, facial numbness, and trigeminal neuralgia in a young patient. Hyperacute or insidious onset of brainstem symptoms is unlikely to indicate MS. Symptoms that localize to a vascular territory usually result from a stroke. In addition, multiple cranial neuropathy is more suggestive of infections such as Lyme disease, sarcoidosis, or carcinomic ulcers.
Unusual Presentations of MS
Certain variants of MS do not present with the typical periventricular ovoid lesions. Tumefactive MS often presents with a large (ie, larger than 2 cm), solitary demyelinating lesion. These lesions usually are biopsied. Treatment with steroids usually brings improvement. After this first manifestation, the patient’s course is typical of relapsing-remitting MS. “Rarely do patients have tumefactive lesions in the middle of their MS course,” said Dr. Pawate.
Another unusual presentation is concentric rings of demyelination, sometimes with mass effect. This variant is called Balo’s concentric sclerosis, and the patient may have typical MS lesions in addition to the rings. “Historically, Balo’s concentric sclerosis was thought to be a severe disease with a poor prognosis,” said Dr. Pawate. “With the advent of MRI, we know that these [rings] are more common than we initially thought, and more benign—not much different from any other MS lesions.”
Patients also may present with multiple large lesions and aggressive disease onset. Such patients need early treatment. “When I see something like this, I treat aggressively using plasma exchange and IV steroids,” said Dr. Pawate. This treatment may be followed by natalizumab infusions, and the patients may make a good recovery. “Historically, this aggressive MS onset was called Marburg variant and was fatal,” said Dr. Pawate.
MS Mimics
ADEM is more common in children than in adults, and imaging can distinguish it from MS. One distinguishing feature of ADEM is that the patient has many lesions that appear to be of the same age. Lesions may appear on the basal ganglia and the thalamus, which is atypical for MS. Spinal cord lesions tend to be longer in ADEM, compared with those in MS. ADEM tends to have a monophasic course, and patients usually present with encephalopathy, headaches, and vomiting. Patients often have a history of preceding vaccination or infection.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) also can mimic MS on MRI. What distinguishes it from MS are lacunar infarcts, involvement in sites like the thalamus and basal ganglia, and gray matter involvement. CADASIL affects middle-aged adults and leads to disability and dementia.
If a patient referred for suspected MS has bilaterally symmetric confluent lesions, “think more in terms of leukodystrophies,” said Dr. Pawate. The absence of gadolinium enhancement is typical in leukodystrophies. The disorders may involve the U-fibers, the brainstem, or the cerebellum, and patients may present with cognitive decline.
Susac’s syndrome is a triad of branch retinal artery occlusion, sensorineural hearing loss, and encephalopathy. The syndrome is associated with a characteristic MRI that includes “spokes” (ie, linear lesions) and “snowballs” (ie, globular lesions) in the corpus callosum, as well as a “string of pearls” (ie, microinfarcts) in the internal capsule. In the eye, the most pathognomonic finding is hyperfluorescence of the arterial wall on fluorescein angiogram. Early treatment can produce good outcomes, but missing the diagnosis may quickly result in dementia, vision loss, and hearing loss.
Lupus can cause CNS manifestations, including cerebritis, vasculitis, and myelitis. “Primary CNS vasculitis can mimic MS on MRI sometimes, but the red flags are that the patient may have headache and infarcts on MRI, which are not seen in MS,” said Dr. Pawate. The white matter lesions in neurosarcoidosis can be similar to those in MS, but neurosarcoidosis also causes leptomeningeal enhancement and cranial nerve enhancement, which are not seen in MS.
—Erik Greb
Suggested Reading
Costello DJ, Eichler AF, Eichler FS. Leukodystrophies: classification, diagnosis, and treatment. Neurologist. 2009;15(6):319-328.
Kleinfeld K, Mobley B, Hedera P, et al. Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia: report of five cases and a new mutation. J Neurol. 2013;260(2):558-571.
Pawate S, Agarwal A, Moses H, Sriram S. The spectrum of Susac’s syndrome. Neurol Sci. 2009;30(1):59-64.
HILTON HEAD—Multiple sclerosis (MS) is the most common demyelinating disease, and its mimics are rare, according to an overview provided at the 39th Annual Contemporary Clinical Neurology Symposium. Given that the treatments and outcomes for MS and its mimics are so different, neurologists should take care to establish a diagnosis early, said Sid Pawate, MD, Assistant Professor of Neurology at Vanderbilt University School of Medicine in Nashville.
Because of the varied clinical presentation of MS, a wide variety of conditions enter the differential diagnosis. Because of the central role that MRI plays in MS diagnosis, imaging mimics that cause white matter lesions also need to be considered, said Dr. Pawate. Typically, the white matter lesions seen in MS are periventricular, juxtacortical, and callososeptal in location. Infratentorially, cerebellar peduncles are a common site. The lesions tend to be ovoid, are 3 mm to 5 mm or larger, and appear hyperintense on T2 and FLAIR sequences. Acute lesions may show restricted diffusion or enhancement after the administration of gadolinium contrast.
Typical Presentations of MS
The three most common presentations of MS are transverse myelitis, optic neuritis, and brainstem–cerebellar dysfunction. Acute partial transverse myelitis is “the most classic” form of transverse myelitis among patients with MS, said Dr. Pawate. Acute complete transverse myelitis, on the other hand, may be postinfectious or idiopathic, or seen as part of acute disseminated encephalomyelitis (ADEM). Similarly, longitudinally extensive transverse myelitis is more suggestive of neuromyelitis optica spectrum disorders (NMOSD) than MS.
The most typical presentation of MS optic neuritis is unilateral and has acute or subacute onset. Patients often have retrobulbar, “gritty” pain when they move their eye. Complete blindness is unusual, and complete recovery occurs in nearly all patients. Hyperacute onset suggests a vascular process rather than optic neuritis, said Dr. Pawate. Slow, insidious onset may indicate an infiltrative process such as neoplasm or sarcoidosis. Painless vision loss may indicate ischemic optic neuropathy, and severe blindness without recovery may result from NMOSD.
The most pathognomonic brainstem dysfunction in MS is intranuclear ophthalmoplegia (INO), especially when it is bilateral. Other brainstem symptoms typical of MS include ataxia, painless diplopia, facial numbness, and trigeminal neuralgia in a young patient. Hyperacute or insidious onset of brainstem symptoms is unlikely to indicate MS. Symptoms that localize to a vascular territory usually result from a stroke. In addition, multiple cranial neuropathy is more suggestive of infections such as Lyme disease, sarcoidosis, or carcinomic ulcers.
Unusual Presentations of MS
Certain variants of MS do not present with the typical periventricular ovoid lesions. Tumefactive MS often presents with a large (ie, larger than 2 cm), solitary demyelinating lesion. These lesions usually are biopsied. Treatment with steroids usually brings improvement. After this first manifestation, the patient’s course is typical of relapsing-remitting MS. “Rarely do patients have tumefactive lesions in the middle of their MS course,” said Dr. Pawate.
Another unusual presentation is concentric rings of demyelination, sometimes with mass effect. This variant is called Balo’s concentric sclerosis, and the patient may have typical MS lesions in addition to the rings. “Historically, Balo’s concentric sclerosis was thought to be a severe disease with a poor prognosis,” said Dr. Pawate. “With the advent of MRI, we know that these [rings] are more common than we initially thought, and more benign—not much different from any other MS lesions.”
Patients also may present with multiple large lesions and aggressive disease onset. Such patients need early treatment. “When I see something like this, I treat aggressively using plasma exchange and IV steroids,” said Dr. Pawate. This treatment may be followed by natalizumab infusions, and the patients may make a good recovery. “Historically, this aggressive MS onset was called Marburg variant and was fatal,” said Dr. Pawate.
MS Mimics
ADEM is more common in children than in adults, and imaging can distinguish it from MS. One distinguishing feature of ADEM is that the patient has many lesions that appear to be of the same age. Lesions may appear on the basal ganglia and the thalamus, which is atypical for MS. Spinal cord lesions tend to be longer in ADEM, compared with those in MS. ADEM tends to have a monophasic course, and patients usually present with encephalopathy, headaches, and vomiting. Patients often have a history of preceding vaccination or infection.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) also can mimic MS on MRI. What distinguishes it from MS are lacunar infarcts, involvement in sites like the thalamus and basal ganglia, and gray matter involvement. CADASIL affects middle-aged adults and leads to disability and dementia.
If a patient referred for suspected MS has bilaterally symmetric confluent lesions, “think more in terms of leukodystrophies,” said Dr. Pawate. The absence of gadolinium enhancement is typical in leukodystrophies. The disorders may involve the U-fibers, the brainstem, or the cerebellum, and patients may present with cognitive decline.
Susac’s syndrome is a triad of branch retinal artery occlusion, sensorineural hearing loss, and encephalopathy. The syndrome is associated with a characteristic MRI that includes “spokes” (ie, linear lesions) and “snowballs” (ie, globular lesions) in the corpus callosum, as well as a “string of pearls” (ie, microinfarcts) in the internal capsule. In the eye, the most pathognomonic finding is hyperfluorescence of the arterial wall on fluorescein angiogram. Early treatment can produce good outcomes, but missing the diagnosis may quickly result in dementia, vision loss, and hearing loss.
Lupus can cause CNS manifestations, including cerebritis, vasculitis, and myelitis. “Primary CNS vasculitis can mimic MS on MRI sometimes, but the red flags are that the patient may have headache and infarcts on MRI, which are not seen in MS,” said Dr. Pawate. The white matter lesions in neurosarcoidosis can be similar to those in MS, but neurosarcoidosis also causes leptomeningeal enhancement and cranial nerve enhancement, which are not seen in MS.
—Erik Greb
Suggested Reading
Costello DJ, Eichler AF, Eichler FS. Leukodystrophies: classification, diagnosis, and treatment. Neurologist. 2009;15(6):319-328.
Kleinfeld K, Mobley B, Hedera P, et al. Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia: report of five cases and a new mutation. J Neurol. 2013;260(2):558-571.
Pawate S, Agarwal A, Moses H, Sriram S. The spectrum of Susac’s syndrome. Neurol Sci. 2009;30(1):59-64.
HILTON HEAD—Multiple sclerosis (MS) is the most common demyelinating disease, and its mimics are rare, according to an overview provided at the 39th Annual Contemporary Clinical Neurology Symposium. Given that the treatments and outcomes for MS and its mimics are so different, neurologists should take care to establish a diagnosis early, said Sid Pawate, MD, Assistant Professor of Neurology at Vanderbilt University School of Medicine in Nashville.
Because of the varied clinical presentation of MS, a wide variety of conditions enter the differential diagnosis. Because of the central role that MRI plays in MS diagnosis, imaging mimics that cause white matter lesions also need to be considered, said Dr. Pawate. Typically, the white matter lesions seen in MS are periventricular, juxtacortical, and callososeptal in location. Infratentorially, cerebellar peduncles are a common site. The lesions tend to be ovoid, are 3 mm to 5 mm or larger, and appear hyperintense on T2 and FLAIR sequences. Acute lesions may show restricted diffusion or enhancement after the administration of gadolinium contrast.
Typical Presentations of MS
The three most common presentations of MS are transverse myelitis, optic neuritis, and brainstem–cerebellar dysfunction. Acute partial transverse myelitis is “the most classic” form of transverse myelitis among patients with MS, said Dr. Pawate. Acute complete transverse myelitis, on the other hand, may be postinfectious or idiopathic, or seen as part of acute disseminated encephalomyelitis (ADEM). Similarly, longitudinally extensive transverse myelitis is more suggestive of neuromyelitis optica spectrum disorders (NMOSD) than MS.
The most typical presentation of MS optic neuritis is unilateral and has acute or subacute onset. Patients often have retrobulbar, “gritty” pain when they move their eye. Complete blindness is unusual, and complete recovery occurs in nearly all patients. Hyperacute onset suggests a vascular process rather than optic neuritis, said Dr. Pawate. Slow, insidious onset may indicate an infiltrative process such as neoplasm or sarcoidosis. Painless vision loss may indicate ischemic optic neuropathy, and severe blindness without recovery may result from NMOSD.
The most pathognomonic brainstem dysfunction in MS is intranuclear ophthalmoplegia (INO), especially when it is bilateral. Other brainstem symptoms typical of MS include ataxia, painless diplopia, facial numbness, and trigeminal neuralgia in a young patient. Hyperacute or insidious onset of brainstem symptoms is unlikely to indicate MS. Symptoms that localize to a vascular territory usually result from a stroke. In addition, multiple cranial neuropathy is more suggestive of infections such as Lyme disease, sarcoidosis, or carcinomic ulcers.
Unusual Presentations of MS
Certain variants of MS do not present with the typical periventricular ovoid lesions. Tumefactive MS often presents with a large (ie, larger than 2 cm), solitary demyelinating lesion. These lesions usually are biopsied. Treatment with steroids usually brings improvement. After this first manifestation, the patient’s course is typical of relapsing-remitting MS. “Rarely do patients have tumefactive lesions in the middle of their MS course,” said Dr. Pawate.
Another unusual presentation is concentric rings of demyelination, sometimes with mass effect. This variant is called Balo’s concentric sclerosis, and the patient may have typical MS lesions in addition to the rings. “Historically, Balo’s concentric sclerosis was thought to be a severe disease with a poor prognosis,” said Dr. Pawate. “With the advent of MRI, we know that these [rings] are more common than we initially thought, and more benign—not much different from any other MS lesions.”
Patients also may present with multiple large lesions and aggressive disease onset. Such patients need early treatment. “When I see something like this, I treat aggressively using plasma exchange and IV steroids,” said Dr. Pawate. This treatment may be followed by natalizumab infusions, and the patients may make a good recovery. “Historically, this aggressive MS onset was called Marburg variant and was fatal,” said Dr. Pawate.
MS Mimics
ADEM is more common in children than in adults, and imaging can distinguish it from MS. One distinguishing feature of ADEM is that the patient has many lesions that appear to be of the same age. Lesions may appear on the basal ganglia and the thalamus, which is atypical for MS. Spinal cord lesions tend to be longer in ADEM, compared with those in MS. ADEM tends to have a monophasic course, and patients usually present with encephalopathy, headaches, and vomiting. Patients often have a history of preceding vaccination or infection.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) also can mimic MS on MRI. What distinguishes it from MS are lacunar infarcts, involvement in sites like the thalamus and basal ganglia, and gray matter involvement. CADASIL affects middle-aged adults and leads to disability and dementia.
If a patient referred for suspected MS has bilaterally symmetric confluent lesions, “think more in terms of leukodystrophies,” said Dr. Pawate. The absence of gadolinium enhancement is typical in leukodystrophies. The disorders may involve the U-fibers, the brainstem, or the cerebellum, and patients may present with cognitive decline.
Susac’s syndrome is a triad of branch retinal artery occlusion, sensorineural hearing loss, and encephalopathy. The syndrome is associated with a characteristic MRI that includes “spokes” (ie, linear lesions) and “snowballs” (ie, globular lesions) in the corpus callosum, as well as a “string of pearls” (ie, microinfarcts) in the internal capsule. In the eye, the most pathognomonic finding is hyperfluorescence of the arterial wall on fluorescein angiogram. Early treatment can produce good outcomes, but missing the diagnosis may quickly result in dementia, vision loss, and hearing loss.
Lupus can cause CNS manifestations, including cerebritis, vasculitis, and myelitis. “Primary CNS vasculitis can mimic MS on MRI sometimes, but the red flags are that the patient may have headache and infarcts on MRI, which are not seen in MS,” said Dr. Pawate. The white matter lesions in neurosarcoidosis can be similar to those in MS, but neurosarcoidosis also causes leptomeningeal enhancement and cranial nerve enhancement, which are not seen in MS.
—Erik Greb
Suggested Reading
Costello DJ, Eichler AF, Eichler FS. Leukodystrophies: classification, diagnosis, and treatment. Neurologist. 2009;15(6):319-328.
Kleinfeld K, Mobley B, Hedera P, et al. Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia: report of five cases and a new mutation. J Neurol. 2013;260(2):558-571.
Pawate S, Agarwal A, Moses H, Sriram S. The spectrum of Susac’s syndrome. Neurol Sci. 2009;30(1):59-64.
Be alert for dermatomyositis without muscle disease
LAS VEGAS – Dermatologists need to be alert for amyotrophic dermatomyositis in patients with rash where lupus might be considered, because of the need for vigilant surveillance for cancer and lung disease in this population.
Ruth Ann Vleugels, MD, walked attendees through a series of dermatomyositis diagnostic pearls at the annual Perspectives in Rheumatic Diseases held by Global Academy for Medical Education.
“When a patient has dermatomyositis but doesn’t have muscle disease, you really have to rely on the skin findings,” since you’re lacking the tipoff of muscle disease at presentation, Dr. Vleugels, professor of dermatology at Brigham and Women’s Hospital, Boston, said in an interview. This is especially true because, on biopsy, “the pathological findings are identical to that of lupus,” she said.
Dr. Vleugels emphasized that it’s important not to miss a more subtle, less violaceous heliotrope eruption, especially in lighter-skinned patients; similarly, Gottron’s papules are not always papular and limited to the knuckle pads, but can be more macular and linear, with psoriasiform scaling. Nail findings such as dilated capillary loops with dystrophic and hypertrophied cuticles are also a big clue. Photodistributed erythema – the “shawl sign” – can be subtle, but offers additional support for a dermatomyositis diagnosis.
Though the erythematous midface rash of lupus resembles a dermatomyositis rash in many ways, there’s a critical differentiator of the two rashes, Dr. Vleugels said. “In dermatomyositis patients, it very classically hugs, or involves, the nasolabial folds, whereas in our systemic lupus patients, the erythema of the cheeks spares the nasolabial folds.”
Global Academy for Medical Education and this news organization are owned by the same parent company.
On Twitter @karioakes
The video associated with this article is no longer available on this site. Please view all of our videos on the MDedge YouTube channel
LAS VEGAS – Dermatologists need to be alert for amyotrophic dermatomyositis in patients with rash where lupus might be considered, because of the need for vigilant surveillance for cancer and lung disease in this population.
Ruth Ann Vleugels, MD, walked attendees through a series of dermatomyositis diagnostic pearls at the annual Perspectives in Rheumatic Diseases held by Global Academy for Medical Education.
“When a patient has dermatomyositis but doesn’t have muscle disease, you really have to rely on the skin findings,” since you’re lacking the tipoff of muscle disease at presentation, Dr. Vleugels, professor of dermatology at Brigham and Women’s Hospital, Boston, said in an interview. This is especially true because, on biopsy, “the pathological findings are identical to that of lupus,” she said.
Dr. Vleugels emphasized that it’s important not to miss a more subtle, less violaceous heliotrope eruption, especially in lighter-skinned patients; similarly, Gottron’s papules are not always papular and limited to the knuckle pads, but can be more macular and linear, with psoriasiform scaling. Nail findings such as dilated capillary loops with dystrophic and hypertrophied cuticles are also a big clue. Photodistributed erythema – the “shawl sign” – can be subtle, but offers additional support for a dermatomyositis diagnosis.
Though the erythematous midface rash of lupus resembles a dermatomyositis rash in many ways, there’s a critical differentiator of the two rashes, Dr. Vleugels said. “In dermatomyositis patients, it very classically hugs, or involves, the nasolabial folds, whereas in our systemic lupus patients, the erythema of the cheeks spares the nasolabial folds.”
Global Academy for Medical Education and this news organization are owned by the same parent company.
On Twitter @karioakes
The video associated with this article is no longer available on this site. Please view all of our videos on the MDedge YouTube channel
LAS VEGAS – Dermatologists need to be alert for amyotrophic dermatomyositis in patients with rash where lupus might be considered, because of the need for vigilant surveillance for cancer and lung disease in this population.
Ruth Ann Vleugels, MD, walked attendees through a series of dermatomyositis diagnostic pearls at the annual Perspectives in Rheumatic Diseases held by Global Academy for Medical Education.
“When a patient has dermatomyositis but doesn’t have muscle disease, you really have to rely on the skin findings,” since you’re lacking the tipoff of muscle disease at presentation, Dr. Vleugels, professor of dermatology at Brigham and Women’s Hospital, Boston, said in an interview. This is especially true because, on biopsy, “the pathological findings are identical to that of lupus,” she said.
Dr. Vleugels emphasized that it’s important not to miss a more subtle, less violaceous heliotrope eruption, especially in lighter-skinned patients; similarly, Gottron’s papules are not always papular and limited to the knuckle pads, but can be more macular and linear, with psoriasiform scaling. Nail findings such as dilated capillary loops with dystrophic and hypertrophied cuticles are also a big clue. Photodistributed erythema – the “shawl sign” – can be subtle, but offers additional support for a dermatomyositis diagnosis.
Though the erythematous midface rash of lupus resembles a dermatomyositis rash in many ways, there’s a critical differentiator of the two rashes, Dr. Vleugels said. “In dermatomyositis patients, it very classically hugs, or involves, the nasolabial folds, whereas in our systemic lupus patients, the erythema of the cheeks spares the nasolabial folds.”
Global Academy for Medical Education and this news organization are owned by the same parent company.
On Twitter @karioakes
The video associated with this article is no longer available on this site. Please view all of our videos on the MDedge YouTube channel
EXPERT ANALYSIS FROM ANNUAL PERSPECTIVES IN RHEUMATIC DISEASES
VIDEO: Get comfortable with screening for, treating CVD risk in RA
LAS VEGAS – When genetic risk and lifestyle risk factors collide with the baseline systemic inflammation of rheumatoid arthritis (RA), cardiovascular risk increases significantly. Helping patients to manage risk for cardiovascular disease (CVD) requires getting comfortable in making risk assessments and counseling patients about medication and lifestyle options, especially for patients who are not actively being managed by primary care physicians.
Jon Giles, MD, said that a large portion of the elevated risk for CVD in patients with RA is “driven by the fact that [RA] patients have more atherosclerosis.”
Dr. Giles, professor of medicine at Columbia University, New York, said that other CVD risk factors can boost the risk further. “If you have diabetes, smoking, high blood pressure, elevated lipids in your blood – if you have a combination of those plus inflammation, it makes that risk even higher,” Dr. Giles said at the annual Perspectives in Rheumatic Diseases held by Global Academy for Medical Education.
“There’s definitely a lot of data that suggests that, as rheumatologists, we’re not doing a very good job of screening and treating for cardiovascular disease and risk,” Dr. Giles said in an interview at the meeting. He suggests that his fellow rheumatologists become comfortable with screening and treatment guidelines for cardiovascular disease. For selected patients, coronary CT or carotid ultrasound may be valuable in guiding decision making, since very low LDL cholesterol may be correlated with an increased risk of CVD for some patients with RA.
Global Academy for Medical Education and this news organization are owned by the same parent company.
The video associated with this article is no longer available on this site. Please view all of our videos on the MDedge YouTube channel
On Twitter @karioakes
LAS VEGAS – When genetic risk and lifestyle risk factors collide with the baseline systemic inflammation of rheumatoid arthritis (RA), cardiovascular risk increases significantly. Helping patients to manage risk for cardiovascular disease (CVD) requires getting comfortable in making risk assessments and counseling patients about medication and lifestyle options, especially for patients who are not actively being managed by primary care physicians.
Jon Giles, MD, said that a large portion of the elevated risk for CVD in patients with RA is “driven by the fact that [RA] patients have more atherosclerosis.”
Dr. Giles, professor of medicine at Columbia University, New York, said that other CVD risk factors can boost the risk further. “If you have diabetes, smoking, high blood pressure, elevated lipids in your blood – if you have a combination of those plus inflammation, it makes that risk even higher,” Dr. Giles said at the annual Perspectives in Rheumatic Diseases held by Global Academy for Medical Education.
“There’s definitely a lot of data that suggests that, as rheumatologists, we’re not doing a very good job of screening and treating for cardiovascular disease and risk,” Dr. Giles said in an interview at the meeting. He suggests that his fellow rheumatologists become comfortable with screening and treatment guidelines for cardiovascular disease. For selected patients, coronary CT or carotid ultrasound may be valuable in guiding decision making, since very low LDL cholesterol may be correlated with an increased risk of CVD for some patients with RA.
Global Academy for Medical Education and this news organization are owned by the same parent company.
The video associated with this article is no longer available on this site. Please view all of our videos on the MDedge YouTube channel
On Twitter @karioakes
LAS VEGAS – When genetic risk and lifestyle risk factors collide with the baseline systemic inflammation of rheumatoid arthritis (RA), cardiovascular risk increases significantly. Helping patients to manage risk for cardiovascular disease (CVD) requires getting comfortable in making risk assessments and counseling patients about medication and lifestyle options, especially for patients who are not actively being managed by primary care physicians.
Jon Giles, MD, said that a large portion of the elevated risk for CVD in patients with RA is “driven by the fact that [RA] patients have more atherosclerosis.”
Dr. Giles, professor of medicine at Columbia University, New York, said that other CVD risk factors can boost the risk further. “If you have diabetes, smoking, high blood pressure, elevated lipids in your blood – if you have a combination of those plus inflammation, it makes that risk even higher,” Dr. Giles said at the annual Perspectives in Rheumatic Diseases held by Global Academy for Medical Education.
“There’s definitely a lot of data that suggests that, as rheumatologists, we’re not doing a very good job of screening and treating for cardiovascular disease and risk,” Dr. Giles said in an interview at the meeting. He suggests that his fellow rheumatologists become comfortable with screening and treatment guidelines for cardiovascular disease. For selected patients, coronary CT or carotid ultrasound may be valuable in guiding decision making, since very low LDL cholesterol may be correlated with an increased risk of CVD for some patients with RA.
Global Academy for Medical Education and this news organization are owned by the same parent company.
The video associated with this article is no longer available on this site. Please view all of our videos on the MDedge YouTube channel
On Twitter @karioakes
EXPERT ANALYSIS FROM THE ANNUAL PERSPECTIVES IN RHEUMATIC DISEASES
