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Genetics and Primary Care: Raising Awareness and Enhancing Cooperation. 遗传学与初级保健：提高认识，加强合作。
Missouri medicine Pub Date : 2024-07-01
Ecenur Tuc Bengur, Jennifer Heeley
{"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}
引用次数: 0
The DESSH Clinic: A New Multidisciplinary Clinic to Address the Complex Needs of Individuals with a Rare Genetic Disorder. DESSH 诊所：新型多学科诊所，满足罕见遗传疾病患者的复杂需求。
Missouri medicine Pub Date : 2024-07-01
Margaret Reynolds, Judith Weisenberg, Marwan Shinawi, Rachel Jensen
{"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}
引用次数: 0
Report of the American Medical Association Annual Meeting. 美国医学协会年会报告。
Missouri medicine Pub Date : 2024-07-01
Charles W Van Way
{"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}
引用次数: 0
Medical Genetics for the Undiagnosed and Rare Patient: "Chasing Zebras". 未确诊和罕见患者的医学遗传学："追逐斑马
Missouri medicine Pub Date : 2024-07-01
Kathleen Sisco, Michelle Oliva
{"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}
引用次数: 0
Full Practice Authority by NPs. 全科医生的全面执业权。
Missouri medicine Pub Date : 2024-07-01
Debbie Fletcher
{"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}
引用次数: 0
A Path Chosen Long Ago and Where It Went. 很久以前选择的道路及其去向
Missouri medicine Pub Date : 2024-07-01
Louis P Dehner
{"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}
引用次数: 0
Current Screening Tests/Biomarkers for Alzheimer's Disease: Implications for Clinicians. 当前的阿尔茨海默病筛查测试/生物标记物：对临床医生的意义。
Missouri medicine Pub Date : 2024-07-01
Vimita Patel, George Grossberg
{"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}
引用次数: 0
The Microbiome: From the Beginning to the End. 微生物组：从开始到结束。
Missouri medicine Pub Date : 2024-07-01
Rajeev Aurora, Thomas Sanford
{"title":"The Microbiome: From the Beginning to the End.","authors":"Rajeev Aurora, Thomas Sanford","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The human microbiota, a community of microorganisms in our bodies, is crucial for our health. This paper explores its development from birth through old age, highlighting some of the unique roles at key life stages-infancy, adulthood, and in the elderly years. Understanding the significant health impacts and consequences of changes in the microbiota offers insights for both the public and clinicians.</p>","PeriodicalId":74203,"journal":{"name":"Missouri medicine","volume":"121 4","pages":"310-316"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11578570/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142689889","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}
引用次数: 0
Like a Fine Wine, Missouri Medicine Continues to Improve with Age. 密苏里医学就像美酒一样，历久弥新。
Missouri medicine Pub Date : 2024-07-01
John C Hagan
{"title":"Like a Fine Wine, <i>Missouri Medicine</i> Continues to Improve with Age.","authors":"John C Hagan","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":74203,"journal":{"name":"Missouri medicine","volume":"121 4","pages":"242-245"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11578563/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142689882","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}
引用次数: 0
Effects of Pornography on Youth: A Review. 色情对青少年的影响：综述。
Missouri medicine Pub Date : 2024-05-01
Meelie Bordoloi, Ila Durkin, Arpit Aggarwal
{"title":"Effects of Pornography on Youth: A Review.","authors":"Meelie Bordoloi, Ila Durkin, Arpit Aggarwal","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":74203,"journal":{"name":"Missouri medicine","volume":"121 3","pages":"195-197"},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11160374/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141297446","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}
引用次数: 0
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