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Interprofessional advanced access: results from a quality improvement intervention in primary care teams 跨专业高级访问:基层医疗团队质量改进干预的结果
Pub Date : 2023-11-01 DOI: 10.1370/afm.22.s1.5353
Isabelle Gaboury, F. Bordeleau, Brigitte Vachon, Isabel Rodrigues, Arnaud Duhoux, Yves Couturier, Catherine Hudon, H. Vasiliadis, Marie-Eve Poitras, Sarah Descôteaux, Benoit Cossette, Kathy Perreault, S. Malham, C. Loignon
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引用次数: 0
“You’re only a receptionist, what do you want to know for?”: Street-level bureaucracy on the front line of general practice "你只是个接待员,你想知道什么?全科前线的官僚主义
Pub Date : 2023-11-01 DOI: 10.1370/afm.22.s1.5479
Ian Litchfield
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引用次数: 0
The combination of atypical diabetes with atypical optic atrophy, avoid missing the diagnosis of wolfram syndrome 非典型糖尿病合并非典型视神经萎缩,避免漏诊沃尔夫拉姆综合征
Pub Date : 2023-11-01 DOI: 10.1370/afm.22.s1.5026
saad khan, Sidra Khan, Ramsha Jamil
Abstract: Objective: Our goal is to create awareness of atypical diabetes with atypical optic atrophy in children and adolescents through multidisciplinary approach leading to early diagnosis of Wolfram Syndrome and improving quality of life. Presentation: A 5-year-old Pakistani decent American born male in parents with consanguineous marriage initially presented to PCP with complaint of decrease growth, weight loss, polydipsia, polyphagia, and urinary incontinence. Work up done showed negative antibodies (GAD 65, IA2, Insulin AB) but A1c of 11. Patient diagnosed with insulin dependent Non autoimmune atypical DM type 1. Patient was seen by ophthalmology for baseline eye exam in new onset childhood DM type 1 in 6 months. Patient got diagnosed with optic atrophy (based on exam 20/80 in both eyes) at the age of 6 years and recommended to obtain brain MRI to rule out intra cranial tumor or mass as cause of atrophy which came back negative and correction glasses was advised. At the age of 6.5 years of age, Patient then presented with worsening school grades with difficulty in vision and hearing. Patient underwent 2nd eye exam showed: Atypical Optic Atrophy. Vision reduced to 20/200 in both eyes. Patient underwent genetic disorders screening. Genetics: At the age of 7, sequencing analysis and deletion/duplication testing showed positive for WFS1 gene. WFS1 gene is involved in rare autosomal recessive genetic disorder called wolfram syndrome coined also DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). ENT/Audiology: diagnosed the patient with bilateral Sensi neural hearing loss and started on hearing aids. Endocrinology: Patient underwent further testing and was found to have GH def and negative DI. Unique about our case: Most of the studies reported median age of onset of optic atrophy is 11 years with other studies ranging from age 8-13 years. Our patient was diagnosed with optic atrophy at the age of 6. The earliest optic atrophy in wolfram syndrome has ever been reported. Central DI was absent in our patient with WS1, although most cases of WS2 have absent DI. The variant c 1028 T>C in exon 8 pathogenic in our study has not been studied before in this syndrome. Conclusion: Wolfram syndrome is a rare genetic disorder with neurodegenerative features and multi organ failure. Our study showed the vital requirement of multidisciplinary healthcare approach for identification of Wolfram syndrome to prevent delay in care.
摘要:目的:我们的目标是通过多学科方法提高儿童和青少年对非典型糖尿病合并非典型视神经萎缩的认识,从而早期诊断沃尔夫拉姆综合征并改善生活质量。介绍:患者是一名 5 岁的巴基斯坦裔美国人,父母是近亲结婚,最初到初级保健医生处就诊时主诉生长发育下降、体重减轻、多饮、多食和尿失禁。检查结果显示抗体(GAD 65、IA2、胰岛素 AB)阴性,但 A1c 为 11。患者被诊断为胰岛素依赖型非自身免疫性非典型 DM 1 型。患者在 6 个月后到眼科接受基线眼科检查,检查结果显示患者为新发 1 型儿童糖尿病。患者在 6 岁时被诊断为视神经萎缩(双眼视力均为 20/80),医生建议患者进行脑部核磁共振检查,以排除导致视神经萎缩的颅内肿瘤或肿块。6.5 岁时,患者的学习成绩越来越差,视力和听力也越来越差。患者接受了第二次眼科检查,结果显示非典型视神经萎缩。双眼视力下降至 20/200。患者接受了遗传疾病筛查。遗传学:7 岁时,测序分析和缺失/重复检测显示 WFS1 基因阳性。WFS1 基因与罕见的常染色体隐性遗传疾病有关,该疾病被称为 wolfram 综合征,又称 DIDMOAD(糖尿病、糖尿病、视神经萎缩和耳聋)。耳鼻喉科/听力科:诊断患者患有双侧 Sensi 神经性听力损失,并开始配戴助听器。内分泌科:患者接受了进一步检查,发现其 GH def 和 DI 阴性。我们病例的独特之处:大多数研究报告显示,视神经萎缩的发病年龄中位数为 11 岁,其他研究报告则为 8-13 岁。我们的患者在 6 岁时就被诊断出患有视神经萎缩,这也是沃尔夫拉姆综合征中最早出现视神经萎缩的病例。我们的 WS1 患者没有中枢性视神经萎缩,尽管大多数 WS2 病例都没有视神经萎缩。在我们的研究中,外显子 8 中的致病变异 c 1028 T>C 以前从未在该综合征中出现过。结论:沃尔夫拉姆综合征是一种罕见的遗传性疾病:沃尔夫拉姆综合征是一种罕见的遗传性疾病,具有神经退行性特征和多器官功能衰竭。我们的研究表明,识别沃尔夫拉姆综合征需要多学科的医疗保健方法,以防止延误治疗。
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引用次数: 0
Quality improvement challenges encountered in primary care for diabetes management in the province of Quebec, Canada 加拿大魁北克省基层医疗机构在糖尿病管理质量改进方面遇到的挑战
Pub Date : 2023-11-01 DOI: 10.1370/afm.22.s1.5301
Brigitte Vachon, Géraldine Layani, Veronique Noel de Tilly, Dina Gaid, G. Giasson, Isabelle Gaboury, Houle Lise
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引用次数: 0
Improving Clinician Understanding of Management in Patients Who Screen Positive for Depression in Primary Care: A QI Project 提高临床医生对基层医疗机构抑郁症筛查阳性患者管理方法的认识:质量改进项目
Pub Date : 2023-11-01 DOI: 10.1370/afm.22.s1.4772
Ramona DeJesus, Augustine Chavez, Stephen Stacey, Rodney Erickson, Erin Westfall, Michelle Jorgensen
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引用次数: 0
Integration of Hepatitis C Treatment into Primary Care Practices: A Qualitative Study in Four New England States 将丙型肝炎治疗纳入初级保健实践:新英格兰四个州的定性研究
Pub Date : 2023-11-01 DOI: 10.1370/afm.22.s1.4634
Roberta Goldman, Laura Sefton, Karen Clements, Karoline Gildemeister
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引用次数: 0
Implementing a safer and more reliable system to monitor test results at a teaching primary care facility 在教学基层医疗机构实施更安全、更可靠的检测结果监控系统
Pub Date : 2023-11-01 DOI: 10.1370/afm.22.s1.4617
Mireille Plouffe-Malette, Karine Bériault
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引用次数: 0
Early detection of cognitive impairment among primary care settings: A program evaluation 在初级保健机构中及早发现认知障碍:项目评估
Pub Date : 2023-11-01 DOI: 10.1370/afm.22.s1.4894
M. Z. Suchsland
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引用次数: 0
Factors Influencing Care Trajectories for Common Mental Disorders related sick leave : Patients’ Experience in Primary Care 影响常见精神疾病相关病假护理轨迹的因素:患者在基层医疗机构的经历
Pub Date : 2023-11-01 DOI: 10.1370/afm.22.s1.5530
Justine Labourot
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引用次数: 0
“A day in the life” – telemedicine in family medicine and its relationship with practicing physicians’ satisfaction "生活中的一天"--家庭医学中的远程医疗及其与执业医师满意度的关系
Pub Date : 2023-11-01 DOI: 10.1370/afm.22.s1.4751
Michal Shani, G. Zacay, S. Vinker, Robert Hoffman, Avivit Golan Cohen
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引用次数: 0
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Practice management and organization
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