Daniel Quay, Ashlie Otto, George Hubbell, Karen Harbert, Crystal Schollmeyer
Maternal Mortality Review Committees are one of the methods employed to measure and address the problem of pregnancy-related death. Reviewing Missouri cases from 2017-2020, 79% of the cases where failure to screen or provide an adequate risk assessment by a health care provider were identified in a pregnancy-related death were determined to be preventable. Recommendations for improvement most commonly addressed issues with assessment of mental health conditions, substance use disorder (SUD), intimate partner violence (IPV), and cardiovascular disease. Although limited, these findings indicate an opportunity for providers to lower the state of Missouri's pregnancy-related mortality ratio.
{"title":"Improved Assessment: The Path to Better Maternal Outcomes in Missouri.","authors":"Daniel Quay, Ashlie Otto, George Hubbell, Karen Harbert, Crystal Schollmeyer","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Maternal Mortality Review Committees are one of the methods employed to measure and address the problem of pregnancy-related death. Reviewing Missouri cases from 2017-2020, 79% of the cases where failure to screen or provide an adequate risk assessment by a health care provider were identified in a pregnancy-related death were determined to be preventable. Recommendations for improvement most commonly addressed issues with assessment of mental health conditions, substance use disorder (SUD), intimate partner violence (IPV), and cardiovascular disease. Although limited, these findings indicate an opportunity for providers to lower the state of Missouri's pregnancy-related mortality ratio.</p>","PeriodicalId":74203,"journal":{"name":"Missouri medicine","volume":"121 4","pages":"317-321"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11578566/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142689881","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Back to the Basics.","authors":"David L Pohl","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":74203,"journal":{"name":"Missouri medicine","volume":"121 4","pages":"248-249"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11578577/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142689820","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A Long-Standing Partnership: Walsworth Celebrates 100 Years with Missouri State Medical Association.","authors":"Will Lubaroff Walsworth","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":74203,"journal":{"name":"Missouri medicine","volume":"121 4","pages":"246-247"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11578573/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142689816","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The rapid evolution of the field of genetics in the past several years has opened new opportunities for diagnosis of treatment of genetic disorders. However, the limited availability of medical geneticists has led to difficulty in meeting this evolving need. Integrating awareness of genetic disorders and genetic screening into primary care may facilitate early diagnosis, while strategic support and cooperative care between primary care physicians and geneticists can improve long term management.
{"title":"Genetics and Primary Care: Raising Awareness and Enhancing Cooperation.","authors":"Ecenur Tuc Bengur, Jennifer Heeley","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The rapid evolution of the field of genetics in the past several years has opened new opportunities for diagnosis of treatment of genetic disorders. However, the limited availability of medical geneticists has led to difficulty in meeting this evolving need. Integrating awareness of genetic disorders and genetic screening into primary care may facilitate early diagnosis, while strategic support and cooperative care between primary care physicians and geneticists can improve long term management.</p>","PeriodicalId":74203,"journal":{"name":"Missouri medicine","volume":"121 4","pages":"277-283"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11578565/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142689828","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Margaret Reynolds, Judith Weisenberg, Marwan Shinawi, Rachel Jensen
DeSanto-Shinawi (DESSH) syndrome is a rare autosomal dominant condition caused by pathogenic variants in the WAC gene. DESSH syndrome was first identified in 2015 in six patients, but has since been diagnosed in more than 200 individuals worldwide. Patients exhibit a variable degree of developmental delay (DD), intellectual disability (ID), hypotonia, gastrointestinal and eye abnormalities, epilepsy, behavioral difficulties, and recognizable facial features. In order to educate families and address the complex medical needs of the increasing number of patients with DESSH syndrome, we established a new multidisciplinary clinic at Washington University in St. Louis. The first clinic was held in September 2022 and attended by 15 patients and their families. Herein, we report the structure of the clinic and present the main clinical findings of these patients. This pilot experience highlights the utility of a multidisciplinary approach to evaluating individuals with rare genetic diseases and the value of collaborating with family support groups to establish multidisciplinary clinics for these disorders, and provides guidance for future clinic planning.
{"title":"The DESSH Clinic: A New Multidisciplinary Clinic to Address the Complex Needs of Individuals with a Rare Genetic Disorder.","authors":"Margaret Reynolds, Judith Weisenberg, Marwan Shinawi, Rachel Jensen","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>DeSanto-Shinawi (DESSH) syndrome is a rare autosomal dominant condition caused by pathogenic variants in the WAC gene. DESSH syndrome was first identified in 2015 in six patients, but has since been diagnosed in more than 200 individuals worldwide. Patients exhibit a variable degree of developmental delay (DD), intellectual disability (ID), hypotonia, gastrointestinal and eye abnormalities, epilepsy, behavioral difficulties, and recognizable facial features. In order to educate families and address the complex medical needs of the increasing number of patients with DESSH syndrome, we established a new multidisciplinary clinic at Washington University in St. Louis. The first clinic was held in September 2022 and attended by 15 patients and their families. Herein, we report the structure of the clinic and present the main clinical findings of these patients. This pilot experience highlights the utility of a multidisciplinary approach to evaluating individuals with rare genetic diseases and the value of collaborating with family support groups to establish multidisciplinary clinics for these disorders, and provides guidance for future clinic planning.</p>","PeriodicalId":74203,"journal":{"name":"Missouri medicine","volume":"121 4","pages":"304-309"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11578572/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142689888","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Report of the American Medical Association Annual Meeting.","authors":"Charles W Van Way","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":74203,"journal":{"name":"Missouri medicine","volume":"121 4","pages":"250-254"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11578558/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142689886","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The world of genetic testing continues to evolve as new technologies provide insight into previously unchartered territories. Access to genetic testing, especially for complex medical patients, could potentially improve the lives of thousands of individuals with undiagnosed conditions. Barriers to testing include financial and physical limitations, along with the emotional and social fortitude that is at times needed for vulnerable populations to agree to testing and participation in research. As healthcare providers, it is imperative that we adopt a wholistic approach to care so that we can arm our patients with the necessary resources to navigate their medical journey.
{"title":"Medical Genetics for the Undiagnosed and Rare Patient: \"Chasing Zebras\".","authors":"Kathleen Sisco, Michelle Oliva","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The world of genetic testing continues to evolve as new technologies provide insight into previously unchartered territories. Access to genetic testing, especially for complex medical patients, could potentially improve the lives of thousands of individuals with undiagnosed conditions. Barriers to testing include financial and physical limitations, along with the emotional and social fortitude that is at times needed for vulnerable populations to agree to testing and participation in research. As healthcare providers, it is imperative that we adopt a wholistic approach to care so that we can arm our patients with the necessary resources to navigate their medical journey.</p>","PeriodicalId":74203,"journal":{"name":"Missouri medicine","volume":"121 4","pages":"284-288"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11578571/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142689883","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Full Practice Authority by NPs.","authors":"Debbie Fletcher","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":74203,"journal":{"name":"Missouri medicine","volume":"121 4","pages":"268"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11578567/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142689826","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A Path Chosen Long Ago and Where It Went.","authors":"Louis P Dehner","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":74203,"journal":{"name":"Missouri medicine","volume":"121 4","pages":"262-268"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11578564/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142689818","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Current Screening Tests/Biomarkers for Alzheimer's Disease: Implications for Clinicians.","authors":"Vimita Patel, George Grossberg","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":74203,"journal":{"name":"Missouri medicine","volume":"121 4","pages":"271-275"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11578559/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142689822","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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