Nancy Joseph, DO

I wanted to share my new blog. First post on how I was motivated to practice a new model of pediatric care to better serve my patients and community. #dpcpediatrician www.mamadocnj.com/blog-1

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Such an honor to be invited by Alba Savinon and @Olaf Bodamer to speak at the Rosalind Franklin Rare Disease Grand Rounds, as part of Boston Children's Hospital’s National Organization for Rare Disorders (NORD) Center of Excellence CME Program. #raredisease #rarediseases #rarediseaseawareness #precisionmedicine #inbornerrorsofmetabolism #inbornerror #metabolism #genetic #genetics #genetictesting #diagnosticodyssey #gaucher #gaucherdisease #homocystinuria #MPS #lysosomal #lysosomalstorage #lysosomaldisease #lysosomalstoragedisease #rarediseaseresearch #orphandrugs #precisionhealth #personalisedmedicine #personalisedhealthcare #geneticdisorders #geneticdisease #diagnosis #genomics #genomicmedicine #genomic #metabolomics #metabolic #metabolites #biomarkers #biomarker #biochemistry #smallmolecule

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🚨A recent article in JMCP troubles me, but it unfortunately does not surprise me. The authors report significant disparities in the Medicare Part D Medication Therapy (MTM) program across racial and ethnic groups. One service of the MTM program is an annual comprehensive medication review (CMR) to assess the beneficiary's medical therapies and identify any potential medication-related issue. The author's note that 🔸 Black and Hispanic beneficiaries are less likely to be offered CMRs compared to White beneficiaries. 🔸 Black, Hispanic, and Asian beneficiaries have longer wait times after enrolling in the MTM program to receive a CMR. 🔸 Minority beneficiaries were less likely to receive a CMR. Addressing inequality in health care is important to optimize medical services for all beneficiaries and for keeping costs down. What are your thoughts? To find out more, you can check out the study in JMPC at https://buff.ly/4ehMZfo 🔍 #HealthDisparities #MedicarePartD #HealthEquity #AMCP

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A new study led by University of Pittsburgh and UPMC Hillman Cancer Center researchers shows that an enzyme called PARP1 is involved in repair of telomeres, the lengths of DNA that protect the tips of chromosomes, and that impairing this process can lead to telomere shortening and genomic instability that can cause #cancer. PARP1's job is genome surveillance: When it senses breaks or lesions in DNA, it adds a molecule called ADP-ribose to specific proteins, which act as a beacon to recruit other proteins that repair the break. The new findings, published in Nature Structural & Molecular Biology, are the first evidence that PARP1 also acts on telomeric DNA, opening up new avenues for understanding and improving PARP1-inhibiting cancer therapies. "No one thought that ADP-ribosylation at DNA was possible, but recent findings challenge this dogma," said Roderick O'Sullivan, Ph.D., associate professor of molecular pharmacology Pitt and investigator at UPMC Hillman. "PARP1 is one of the most important biomedical targets for cancer research, but it was thought that drugs targeting this enzyme only acted at proteins. Now that we know PARP1 also modifies DNA, it changes the game because we can potentially target this aspect of PARP1 biology to improve cancer treatments." O'Sullivan hypothesizes that ADP-ribose affects telomere integrity by disrupting a protective structure called shelterin that safeguards telomeres, but more research is needed to confirm this. "Targeting PARP1 has been a big success story for cancer therapy, but some patients develop resistance to PARP1 inhibitors," said O'Sullivan. "I'm excited about this study because we've discovered something new about PARP1 biology, which generates a whole load of new questions that could help us develop novel approaches to target PARP1 or fine-tune therapies we already have. We're right at the beginning of something exciting, and there's a lot more to explore." Other authors on the study were Sandy Schamus-Haynes, Ragini Bhargava Ph.D., and Patty Opresko, Ph.D., all of Pitt and UPMC; Junyeop Lee and Jaewon Min, Ph.D., both of Columbia University; Robert Lu, Ph.D., and Hilda Pickett, Ph.D., both of the University of Sydney; and Marion Schuller, D.Phil., and Joséphine Groslambert, both of the University of Oxford. https://lnkd.in/e7pnhG3P

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#HIV is a virus that attacks the body’s immune system by targeting T cells that fight off infections and can eventually make it harder for the body to defend itself if left untreated. Dr. Sarath Nath of Stony Brook Medicine shares 5 reasons you should get tested and what to expect when you do so. #SBexperts

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Congratulations to the PREVeNT trial authors for their 24m study completion. There is much to unpack here. Early assignment to vigabatrin as soon as abnormal EEG is seen did not seem to alter long term outcomes. BUT…. Patients assigned to placebo switched to VGB as soon as a first seizure occurred. Patients already having clinical seizures treated right away, and the “watchful waiting” group did the best (though didn’t look significantly different). Vigilance in rapidly treated infantile spasms and focal seizures in infants is seemingly the same for all patients in the study (no doubt by virtue of being in the study). They ALL benefitted from vigilance, and then the subsequent addition of vigabatrin. Admittedly, the groups are small… One other key point….only one patient (of 84) had visual abnormalities within the 24mos(at 12mos). When we launched vigabatrin, this was a scary possibility. It is no doubt a relief to all families with infantile spasms or TSC, to see that a vigilant clinical team can balance benefit and risk of vigabatrin well. David Wesche Darcy Krueger Also…it seems treating the EEG may not be any more beneficial than treating the clinical seizure. Important to see if that holds in other seizures and syndromes! Martina Bebin

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Upcoming lung cancer screening education opportunity by #AmericanCancerSociety The target audience is primary care clinicians. While the effort comes from partners in the Carolinas, attendees do not have to live and/or practice in the Carolinas, anyone who is interested can join. ACS hosted Increasing Lung Cancer Screening in the Carolinas: Bringing Experiences Together. You can find the recording HERE. https://lnkd.in/eMV598eu This “Part 2” webinar to discuss the latest updates and resources, hear from experts in the field, and share experiences and strategies for increasing lung cancer screening. Please see the attached flyer for more information about the webinar, which will take place on June 7th. Registration is required. Meeting Registration - Zoom https://lnkd.in/eHtqvjCX #lungcancer #lungcancerawareness #lungcancerscreening #lungcancersurvivorship #earlydetectionsaveslives

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We child psychiatrists could be doing more to combat the youth mental health crisis. We're trained to provide great care for one child at a time. That's just not going to be enough. Gene Beresin MD, MA, a Harvard professor and director of child and adolescent psychiatry training at Mass General Hospital, just said as much. He and other leading academic child and adolescent psychiatrists (CAPs) from around the country published an article last month in Academic Psychiatry calling for us to work smarter. We CAPs are uniquely positioned to be champions and effective advocates for systemic change. The last 20 years have taught us that we're not going to train enough of us to dig out of the worsening youth mental health crisis. Our profession's ethical standards call on us to think beyond treatment of individual patients and consider population health. Dr. Beresin and his colleagues are urging us to do the following: 1/ Reach out to the media and find opportunities to teach communities what we know. Don't wait until the next school shooting to get on TV. 2/ Develop peer supervision programs that train young people to help other young people. Youth may be more likely to open up to peers. 3/ Introduce school-based social emotional learning programs that include therapeutic skill building. There are several proven programs that teach students how to think and talk about emotions. 4/ Create, study and disseminate online parenting modules and therapy tools. We must find ways to scale effective interventions to everyone who needs them. We CAPs need to reset and rethink how we're spending our time and energy. We don't have a system that works. It's up to us to do something about it. [Link to Dr. Beresin's article below.]

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Superb work in NEJM Catalyst from colleagues to further enhance patient-centric care through an ED in Home model with net savings of $1250/encounter. https://lnkd.in/edUJFAAp As an emergency physician doing similar work at Massachusetts General Hospital, I can attest to their experience and that of our patients who are absolutely delighted with such patient-centric care. Excellent clinical pathway especially for our seniors for whom it is often difficult to get to the ED and don't do as well once there. Common reasons for referral often include symptoms of lower clinical risk (safe for home eval) but still requiring same-day diagnostics +/- therapeutics, such as: mild shortness of breath, urinary symptoms, potential skin infection, generalized weakness, leg edema. Great description of the team/model in the article...in short, it consists of remote triage nurses and EDiH coordinators, community paramedics in the patient home obtaining diagnostics and administering therapeutics, and an emergency physician directing the care through a synchronous video-visit. The key for sustainability of these programs is of course meeting patient volume requirements to offset costs (15 encounters/day for this study). Great work Evan Berg, M.D. Gregory Snyder Meghan McGrath, MD and the entire team for further advancing our understanding of EDiH and the home-based care ecosystem. #futureofhealthcare #emergencycare #healthcaretech #mih #homebasedcare #homecenteredcare #telemedicine #virtualcare #health #pointofcare #pointofneed #careredesign

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Learn how to provide primary care to your patients with HIV with the New York State Department of Health AI Comprehensive Primary Care for Adults With HIV guideline. Find it at https://lnkd.in/e4ctsU9X #HIVguidelines #HIV #health #healthcare

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Good article in self magazine talking about how utilizing the arts can both heal and prevent your mental health issues. So go to a concert or museum!

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Our 11th MODCAST episode guest is this year’s winner of the March of Dimes Richard B. Johnston, Jr., MD Prize: Dr. Marisa Bartolomei. Dr. Bartolomei is Professor of Cell and Developmental Biology at the University of Pennsylvania and Co-director of the UPENN Epigenetics Institute. Dr. Bartolomei identified one of the first imprinted genes, H19. Imprinted genes, which number in the hundreds, are expressed from only one parental chromosome and are the reason why intact maternal and paternal genomes are required for normal mammalian development. Defects in genomic imprinting and imprinted genes are associated with developmental disorders, including disorders such as Beckwith-Wiedemann Syndrome, and adverse pregnancy outcomes, many of which arise from placental dysfunction. The Bartolomei lab has demonstrated the importance of precise and accurate epigenetic gene regulation in the germline and early embryo for healthy pregnancy and offspring outcomes. In this regard, Dr. Bartolomei has addressed questions regarding how environmental insults in utero and Assisted Reproductive Technologies may be associated with abnormal imprinted gene expression and adverse outcomes, with the goal of developing strategies to minimize the impact of these exposures. Listen here: https://lnkd.in/gxSzsyFr  

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This is WAY overdue. For anyone who has seen the value of a genetic counselor, be it from a personal pr professional lens, let congress know. If you haven't, let's talk. #genetics #geneticcounselor #health #medicine

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Discover how UMass Memorial Health utilizes Get Well's SDOH solution and enables UMass to match patients with community resources that meet their needs, while creating a more efficient process for caregivers. Watch the on-demand webinar today! #SDOH #HealthEquity #PatientEngagement

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Visionaries look to the future—and see infinite possibility. They challenge the status quo—and make the impossible possible. They boldly imagine a better world – and lead the charge to create it. The Leukemia & Lymphoma Society (LLS) was built on that same vision - of a better world - one without blood cancers. Through research, advocacy, support, and education, the LLS is fighting blood cancer. The shirts below can be ordered to help support my team in the fight! https://lnkd.in/gw9-AZU4

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Progress, Potential, and Possibilities Podcast with Dr. Susan Domchek Susan Domchek, MD, director of the Basser Center for BRCA at Penn Medicine, discussed her path to breast cancer genetics research and how the Basser Center is working to improve care and future outcomes for people with a family history of cancer, including carriers of BRCA gene mutations, which increase an individual’s risk of developing certain cancers. https://lnkd.in/e5YTpchW

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