Pathogenic RET Variants Occur at Higher Prevalence Than Previously Recognized

MedicalResearch.com Interview with:

Emily J. Gallagher, MDAssistant Professor of MedicineEndocrinology, Diabetes and Bone DiseaseIcahn School of Medicine at Mount Sinai 

Dr. Gallagher

Emily J. Gallagher, MD
Assistant Professor of Medicine
Endocrinology, Diabetes and Bone Disease
Icahn School of Medicine at Mount Sinai 

MedicalResearch.com: What is the background for this study?

Response: Multiple Endocrine Neoplasia Syndrome Type 2 (MEN2) is an inherited endocrine disorder characterized by the development of pheochromocytoma, medullary thyroid carcinoma (MTC) and parathyroid tumors. It occurs due to activating missense variants in the RET gene.

The estimated prevalence of MEN2 is 1 per 30,000 in the general population. Through a collaboration between The Center for Genomic Health, the Charles Bronfman Institute for Personalized Medicine, and the Division of Endocrinology at Mount Sinai, our aim was to investigate the prevalence and clinical manifestations of pathogenic RET variants in the multi-ethnic BioMe Biobank.

The BioMe Biobank is an electronic health record-linked biobank with exome sequencing data available for more than 30,000 patients recruited across The Mount Sinai Health System.

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Erectile Dysfunction: Advanced Imaging Demonstrates Link with Atherosclerosis

MedicalResearch.com Interview with:

Jagat Narula, MD, PhDPhilip J. and Harriet L. Goodhart Professor of Medicine (Cardiology)Associate Dean for Global HealthDirector of the Cardiovascular Imaging ProgramMount Sinai Medical Center

Dr. Narula

Jagat Narula, MD, PhD
Philip J. and Harriet L. Goodhart Professor of Medicine (Cardiology)
Associate Dean for Global Health
Director of the Cardiovascular Imaging Program
Mount Sinai Medical Center

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: Atherosclerosis has been linked to causing erectile dysfunction (ED) in the majority of patients with this cardiovascular condition, but researchers have not had the means of demonstrating atherosclerosis in penile arteries until now.  This unique study uses advanced imaging to detect how strong the association actually is.  For the first time, researchers have used advanced imaging of penile arteries to show a link between atherosclerosis and erectile dysfunction (ED).

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TAVRcathAID Mobile App Facilitates Coronary Access Education After TAVR

MedicalResearch.com Interview with:

Annapoorna Kini, MDZena and Michael A Wiener Professor of MedicineDirector of the Cardiac Catheterization LaboratoryMount Sinai Heart at Mount Sinai Hospital

Dr. Kini

Annapoorna Kini, MD
Zena and Michael A Wiener Professor of Medicine
Director of the Cardiac Catheterization Laboratory
Mount Sinai Heart at Mount Sinai Hospital

MedicalResearch.com: What is the background for this study?  

  • Expanding indication and use of Transcatheter aortic valve replacement (TAVR) poses a unique problem of coronary access after valve implantation.
  • Troubleshooting tools and techniques have been published but are not available at the fingertips of the user at all the times.
  • We tried to address this unique problem with an innovative educational mobile application (app) called “TAVRcathAID”.

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Even with Controlled LDL-Cholesterol, PCI Stent Patients Have Residual Inflammatory Risk

MedicalResearch.com Interview with:

Dr. George Dangas MD PhDProfessor of Medicine, CardiologyMount Sinai Health System

Dr. Dangas

Dr. George Dangas MD PhD
Professor of Medicine, Cardiology
Mount Sinai Health System

MedicalResearch.com: What is the background for this study?

Response: Widespread use of statins targeted to decrease levels of low density lipoprotein cholesterol (LDL-C) below 70mg/dL are recommended by guidelines. However, residual cholesterol risk may only be one part of the residual risk equation. Indeed, Biological inflammation has long been known as a pathophysiological mechanism of atherosclerosis and the recent CANTOS trial opened new therapeutic perspective by demonstrating that inflammation modulation via selective interleukin-1β inhibition could result in improved diagnosis in patients with coronary artery disease.

However, the prevalence and impact of a residual inflammatory biological syndrome in patients with controlled cholesterol risk is unclear. Continue reading

Upper Arm Fractures: Comordid Conditions Linked to More Opioids and Longer Hospital Stays

MedicalResearch.com Interview with:

Paul Cagle, Jr. MDAssistant Professor of Orthopedic SurgeryIcahn School of Medicine at Mount Sinai

Dr. Cagle

Paul Cagle, Jr. MD
Assistant Professor of Orthopedic Surgery
Icahn School of Medicine at Mount Sinai

MedicalResearch.com: What is the background for this study? What are the main findings ie What are some of the significant comorbidities? 

Response: In this study our goal was to better understand what medical issues (medical comorbidities) can cause trouble or issue for patients with a proximal humerus fracture (shoulder fracture).  To tackle this issue we used a large national sample of patients and sorted our the different medical issues the patients had.

We found that patients with increased medical issues had longer hospital stays and higher use of opioid medications (pain medications).

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Knee Replacement: Benefits and Risks of Antibiotic-Loaded Bone Cement

MedicalResearch.com Interview with:

Darwin Chen, MD Assistant Professor of Orthopedic SurgeryIcahn School of Medicine at Mount Sinai

Dr. Chen

Darwin Chen, MD
Assistant Professor of Orthopedic Surgery
Icahn School of Medicine at Mount Sinai

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: Periprosthetic joint infection unfortunately remains a leading cause of total knee arthroplasty failure. One method of mitigating the risk of PJI is to use antibiotic loaded bone cement in a prophylactic fashion.

While the use of antibiotic cement makes inherent sense, the decision is not as simple as it seems. There are potential side effects such as renal damage, antibiotic hypersensitivity, and antibiotic resistance. Antibiotics decrease the mechanical strength of cement fixation, which may impact component loosening. Additionally, antibiotic cement is significantly more expensive than standard cement, driving up cost. Currently there is no consensus on if antibiotic cement truly reduces infection risk and there are many conflicting studies.

The purpose of our study is the use a large national database to evaluate real world utilization patterns of antibiotic cement, and assess outcomes, complications, and cost associated with antibiotic cement usage. Our hypothesis was that antibiotic cement is associated with a decreased risk of infection and no increased risk of systemic complications. 

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Lack of Patient Education as a Cause of Increased Postoperative Opioid Use

MedicalResearch.com Interview with:

Dr. Alexis Colvin, MDAssociate Professor of Orthopedic SurgeryIcahn School of Medicine at Mount Sinai

Dr. Colvin

Dr. Alexis Colvin, MD
Associate Professor of Orthopedic Surgery
Icahn School of Medicine at Mount Sinai 

MedicalResearch.com: What is the background for this study?

Response: 40% of all opioid overdose deaths involve a prescription opioid and orthopaedic surgeons are the 3rd highest prescribers of opioids.  Set guidelines for post surgery opioid prescriptions have not been established.  Arthroscopic knee meniscectomy is one of the most common orthopaedic procedures.  The purpose of this study was to determine how many opioids were being prescribed  among a group of six sports fellowship trained orthopaedic surgeons versus how many patients were actually using.

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Genes Help Determine Whether You Are Shaped Like an Apple or Pear

MedicalResearch.com Interview with:

Ruth Loos, PhD The Charles Bronfman Professor in Personalized Medicine Director, Genetics of Obesity and Related Traits Program Co-Director, Charles Bronfman Institute for Personalized Medicine Icahn School of Medicine at Mount Sinai New York, NY

Dr. Loos


Ruth Loos, PhD
The Charles Bronfman Professor in Personalized Medicine
Director, Genetics of Obesity and Related Traits Program
Co-Director, Charles Bronfman Institute for Personalized Medicine
Icahn School of Medicine at Mount Sinai
New York, NY

 

 

MedicalResearch.com: What is the background for this study? Which type of body fat distribution carries greater risk of diabetes or other obesity-related health disorders?

Response: Obesity broadly consists of two component; [1] there is overall body size (assessed using BMI) and [2] there is fat distribution (assessed using WHR). Both are “heritable”, which mean that they are in part determined by our genome (and the other part is determined by our lifestyle).

Over the past 15 years, geneticists have used an approach to screen the whole genome of thousands of people to identify genetic variations that differ between e.g. obese people vs non-obese people.

We have applied this approach to both components of obesity and have found so far that genes for “overall body size” seem to act in the brain, likely controlling hunger, satiety, reward, etc., whereas the genes that determine where in the body the excess fat will be stored when you gain weight (i.e. fat distribution) seem to act more “locally” at the fat cell level itself, determining the storage and release of fat.  Continue reading

Radiomics Plus Machine Learning Can Optimize Prostate Cancer Classification

MedicalResearch.com Interview with:

Gaurav Pandey, Ph.D. Assistant Professor Department of Genetics and Genomic Sciences Icahn Institute of Data Science and Genomic Technology Icahn School of Medicine at Mount Sinai, New York 

Dr. Pandey

Gaurav Pandey, Ph.D.
Assistant Professor
Department of Genetics and Genomic Sciences
Icahn Institute of Data Science and Genomic Technology
Icahn School of Medicine at Mount Sinai, New York 

MedicalResearch.com: What is the background for this study?

 Response: Multiparametric magnetic resonance imaging (mpMRI) has become increasingly important for the clinical assessment of prostate cancer (PCa), most routinely through PI-RADS v2, but its interpretation is generally variable due to its relatively subjective nature.

Radiomics, a methodology that can analyze a large number of features of images that are difficult to study solely by visual assessment, combined with machine learning methods have shown potential for improving the accuracy and objectivity of mpMRI-based prostate cancer assessment. However, previous studies in this direction are generally limited to a small number of classification methods, evaluation using the AUC score only, and a non-rigorous assessment of all possible combinations of radiomics and machine learning methods. Continue reading

Prenatal Exposure to Phthalates Linked to Language Delay in Preschool Children

MedicalResearch.com Interview with:

Carl-Gustaf Bornehag, PhD Professor, Department of Health Sciences Karlstad University, Karlstad, Sweden Icahn School of Medicine at Mount Sinai New York 

Prof. Bornehag

Carl-Gustaf Bornehag, PhD
Professor, Department of Health Sciences
Karlstad University, Karlstad, Sweden
Icahn School of Medicine at Mount Sinai
New York 

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: Phthalates have been known for long time as potential endocrine disrupters. Exposure for these kind of compounds during pregnancy have been associated to impacted sexual development, most often seen in boys. However, there is also findings showing that prenatal exposure for phthalates can be associated to neurodevelopment in offspring children.

This study is focusing on prenatal exposure for phthalates and language delay at 30-37 months of age and were conducted in Sweden (the SELMA study including 963 children) and the U.S. (the TIDES study including 370 children) with the same design, measurements and protocols.

In these two independent studies, prenatal exposure for two phthalates (DBP and BBzP) was associated to language delay in pre-school children. Unique things with this study is that we are measuring the exposure during early pregnancy (1st trimester), the size of the study, and that we examined it in two independent populations, one in Europe and one in the U.S. with similar results. 

MedicalResearch.com: What should readers take away from your report?

 Response: These compounds identified in this study are banned in many products, but since many of these (e.g., older vinyl flooring, electric cables, toys, etc.) have long life length, they can exposure people for several decades. From a consumers point of view it is good to try to find information on ingredients in these kind of products, but that can be difficult. 

MedicalResearch.com: What recommendations do you have for future research as a result of this work? 

Response: We need other kind of more experimental studies that can tell us the biological mechanisms behind these effects. 

Citation:

Bornehag C, Lindh C, Reichenberg A, et al. Association of Prenatal Phthalate Exposure With Language Development in Early Childhood. JAMA Pediatr. Published online October 29, 2018. doi:10.1001/jamapediatrics.2018.3115

Oct 31, 2018 @ 6:31 pm

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