scholarly journals MON-057 MODY Diagnosis: Missed Opportunity to Avert Insulin Therapy. A Case Series

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Remberto Paulo ◽  
Salman Kirmani ◽  
Kristal Anne Matlock ◽  
Deborah A Bowlby ◽  
Terry Headley
Keyword(s):  
Genetic Testing ◽  
Insulin Therapy ◽  
Gene Mutation ◽  
Health Care Providers ◽  
Diabetes Management ◽  
Case Series ◽  
Care Providers ◽  
C Peptide ◽  
Bolus Insulin ◽  
Basal Bolus

Abstract BACKGROUND Prevalence of MODY is 1.2% in pediatric diabetes population. SEARCH study reported most of these patients were misdiagnosed as T1DM or T2DM up to 36% and 51% respectively (1). GCK (MODY 2) and HNF1A/HNF4A (MODY3) are the most common forms of MODY. Despite improvement in testing strategy (panel testing instead of step-wise approach) and cost, MODY testing remains underutilized. These conditions do not require insulin therapy, and MODY 2 patients may even be discharged from clinic after diagnosis. We present 4 cases and valuable lessons learned. MODY 2 Case 1. 4 yo M referred for hyperglycemia in the 300s during surgery. A1c 6.4%. FBG at home 150s, asymptomatic. MGM and MGM’s siblings have diabetes. Diabetes autoantibodies (DAA) negative. C-peptide 5.4 (NL 0.78 - 5.19 ng/ml). MODY panel (GeneDx) showed heterozygous mutation in GCK gene (c.70 C>T). Patient remains off insulin, family reassured and advised to undergo genetic testing. MODY 2 Case 2. 8 yo M diagnosed at local ED with “T1DM” after presenting with polyuria, polydipsia, and random BG 237. A1c 6.7%, C-peptide 1.9, started on basal-bolus insulin. MODY panel (sent a year later when patient was found to have low insulin requirement, negative DAA) showed pathogenic variant in GCK gene. Weaned from insulin, A1c unchanged (6.3–7%). Mother found to have same mutation. MODY 3 Case 1. 16 yo F referred by PCP who started her on insulin a year prior after an incidental finding of hyperglycemia. A1c was 7.5% at diagnosis. Mom, MGM have diabetes, unknown type (MGM thin by report). DAA neg, C-Peptide 1.74. MODY Panel showed HNF1A heterozygous gene mutation for RI31Q. She was switched to Glyburide, blood glucose 90s. MODY 3 Case 2. 10 yo M referred from the ED for “T1DM” (weight loss, fatigue, A1c 7.6%) started on basal-bolus insulin, but lost to follow up for a year. Brother has MODY 3. DAA neg, C-Peptide 3.1. Targeted gene sequencing showed HNF1A gene mutation. He was switched to Glyburide, A1c improved to 6.7%. However, patient became noncompliant as teenager, A1c now 9.3%. CONCLUSION MODY remains underdiagnosed. A high index of suspicion should be maintained in nonobese, DAA-negative patients diagnosed with DM before 25yo. Although DAA and genetic testing can be costly, diagnosis can dramatically alter diabetes management as illustrated in all 4 cases, and overall cost of management may be lower in the end. Patients with MODY 2 do not develop vascular complications associated with diabetes, nor require pharmacotherapy. MODY 3 patients may be safely switched to sulfonylurea monotherapy, though degree of diabetes control depends on compliance with medication. Testing gives relatives previously misdiagnosed the opportunity to improve their own quality of life. More education for health care providers is warranted for prompt diagnosis and appropriate management of this condition. Reference:1. Pihoker, et al. JCEM 2013; 98:4055–62

scholarly journals Care-seeking and managing diabetes in rural Bangladesh: a mixed methods study

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Hannah Maria Jennings ◽  
Joanna Morrison ◽  
Kohenour Akter ◽  
Hassan Haghparast-Bidgoli ◽  
Carina King ◽  
...  
Keyword(s):  
Quality Of Care ◽  
Health Care Providers ◽  
Low Income ◽  
Diabetes Management ◽  
Local Health ◽  
Care Seeking ◽  
Care Providers ◽  
Structured Interviews ◽  
Rural Bangladesh

Abstract Background Type 2 diabetes mellitus poses a major health challenge worldwide and in low-income countries such as Bangladesh, however little is known about the care-seeking of people with diabetes. We sought to understand the factors that affect care-seeking and diabetes management in rural Bangladesh in order to make recommendations as to how care could be better delivered. Methods Survey data from a community-based random sample of 12,047 adults aged 30 years and above identified 292 individuals with a self-reported prior diagnosis of diabetes. Data on health seeking practices regarding testing, medical advice, medication and use of non-allopathic medicine were gathered from these 292 individuals. Qualitative semi-structured interviews and focus group discussions with people with diabetes and semi-structured interviews with health workers explored care-seeking behaviour, management of diabetes and perceptions on quality of care. We explore quality of care using the WHO model with the following domains: safe, effective, patient-centred, timely, equitable and efficient. Results People with diabetes who are aware of their diabetic status do seek care but access, particularly to specialist diabetes services, is hindered by costs, time, crowded conditions and distance. Locally available services, while more accessible, lack infrastructure and expertise. Women are less likely to be diagnosed with diabetes and attend specialist services. Furthermore costs of care and dissatisfaction with health care providers affect medication adherence. Conclusion People with diabetes often make a trade-off between seeking locally available accessible care and specialised care which is more difficult to access. It is vital that health services respond to the needs of patients by building the capacity of local health providers and consider practical ways of supporting diabetes care. Trial registration ISRCTN41083256. Registered on 30/03/2016.

scholarly journals Feasibility and Assessment of a Cascade Traceback Screening Program (FACTS): Protocol for a Multisite Study to Implement and Assess an Ovarian Cancer Traceback Cascade Testing Program

2021 ◽  
Vol 11 (6) ◽  
pp. 543
Author(s):  
Anna DiNucci ◽  
Nora B. Henrikson ◽  
M. Cabell Jonas ◽  
Sundeep Basra ◽  
Paula Blasi ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Health Care Providers ◽  
Screening Program ◽  
Qualitative Interviews ◽  
Care Providers ◽  
Genetic Privacy ◽  
Program Outcomes ◽  
Cascade Testing ◽  
Program Costs

Ovarian cancer (OVCA) patients may carry genes conferring cancer risk to biological family; however, fewer than one-quarter of patients receive genetic testing. “Traceback” cascade testing —outreach to potential probands and relatives—is a possible solution. This paper outlines a funded study (U01 CA240747-01A1) seeking to determine a Traceback program’s feasibility, acceptability, effectiveness, and costs. This is a multisite prospective observational feasibility study across three integrated health systems. Informed by the Conceptual Model for Implementation Research, we will outline, implement, and evaluate the outcomes of an OVCA Traceback program. We will use standard legal research methodology to review genetic privacy statutes; engage key stakeholders in qualitative interviews to design communication strategies; employ descriptive statistics and regression analyses to evaluate the site differences in genetic testing and the OVCA Traceback testing; and assess program outcomes at the proband, family member, provider, system, and population levels. This study aims to determine a Traceback program’s feasibility and acceptability in a real-world context. It will account for the myriad factors affecting implementation, including legal issues, organizational- and individual-level barriers and facilitators, communication issues, and program costs. Project results will inform how health care providers and systems can develop effective, practical, and sustainable Traceback programs.

scholarly journals Ethical Considerations on Pediatric Genetic Testing Results in Electronic Health Records

2020 ◽  
Vol 11 (05) ◽  
pp. 755-763
Author(s):  
Shibani Kanungo ◽  
Jayne Barr ◽  
Parker Crutchfield ◽  
Casey Fealko ◽  
Neelkamal Soares
Keyword(s):  
Genetic Testing ◽  
Best Practices ◽  
Health Care Providers ◽  
Genetic Information ◽  
Ethical Issues ◽  
Interdisciplinary Approach ◽  
Care Providers ◽  
Ethical Considerations ◽  
Electronic Health ◽  
Genetic Results

Abstract Background Advances in technology and access to expanded genetic testing have resulted in more children and adolescents receiving genetic testing for diagnostic and prognostic purposes. With increased adoption of the electronic health record (EHR), genetic testing is increasingly resulted in the EHR. However, this leads to challenges in both storage and disclosure of genetic results, particularly when parental results are combined with child genetic results. Privacy and Ethical Considerations Accidental disclosure and erroneous documentation of genetic results can occur due to the nature of their presentation in the EHR and documentation processes by clinicians. Genetic information is both sensitive and identifying, and requires a considered approach to both timing and extent of disclosure to families and access to clinicians. Methods This article uses an interdisciplinary approach to explore ethical issues surrounding privacy, confidentiality of genetic data, and access to genetic results by health care providers and family members, and provides suggestions in a stakeholder format for best practices on this topic for clinicians and informaticians. Suggestions are made for clinicians on documenting and accessing genetic information in the EHR, and on collaborating with genetics specialists and disclosure of genetic results to families. Additional considerations for families including ethics around results of adolescents and special scenarios for blended families and foster minors are also provided. Finally, administrators and informaticians are provided best practices on both institutional processes and EHR architecture, including security and access control, with emphasis on the minimum necessary paradigm and parent/patient engagement and control of the use and disclosure of data. Conclusion The authors hope that these best practices energize specialty societies to craft practice guidelines on genetic information management in the EHR with interdisciplinary input that addresses all stakeholder needs.

scholarly journals Clinical Practice Guidelines for the Management of Patients with Histoplasmosis: 2007 Update by the Infectious Diseases Society of America

2007 ◽  
Vol 45 (7) ◽  
pp. 807-825 ◽  
Author(s):  
L. Joseph Wheat ◽  
Alison G. Freifeld ◽  
Martin B. Kleiman ◽  
John W. Baddley ◽  
David S. McKinsey ◽  
...  
Keyword(s):  
Infectious Diseases ◽  
Health Care Providers ◽  
Antifungal Agents ◽  
Treatment Guidelines ◽  
Immunosuppressive Treatment ◽  
Case Series ◽  
Previous Treatment ◽  
Care Providers ◽  
New Information ◽  
Evidence Based Guidelines

Abstract Evidence-based guidelines for the management of patients with histoplasmosis were prepared by an Expert Panel of the Infectious Diseases Society of America. These updated guidelines replace the previous treatment guidelines published in 2000 (Clin Infect Dis 2000; 30:688–95). The guidelines are intended for use by health care providers who care for patients who either have these infections or may be at risk for them. Since 2000, several new antifungal agents have become available, and clinical trials and case series have increased our understanding of the management of histoplasmosis. Advances in immunosuppressive treatment for inflammatory disorders have created new questions about the approach to prevention and treatment of histoplasmosis. New information, based on publications from the period 1999–2006, are incorporated into this guideline document. In addition, the panel added recommendations for management of histoplasmosis in children for those aspects that differ from aspects in adults.

Creating Comics to Address Well-Being and Resilience During the COVID-19 Pandemic

2021 ◽  
pp. 152483992110654
Author(s):  
Kathryn West ◽  
Karen R. Jackson ◽  
Tobias L. Spears ◽  
Brian Callender
Keyword(s):  
Health Care ◽  
Health Care Providers ◽  
Case Series ◽  
Narrative Medicine ◽  
Well Being ◽  
Small Scale ◽  
Care Providers ◽  
Graphic Medicine ◽  
Racial Injustice ◽  
Pilot Implementation

In this descriptive case series, we detail the theoretical basis, methodology, and impact of a small-scale pilot implementation of graphic medicine workshops as an innovative approach to well-being and resilience in the age of COVID-19 and increasing awareness of racial injustice. The data provided in this article are anecdotal and based on participation in the workshops. Images created during the workshops are also shared as examples of the types of reflection that graphic medicine can enable. The workshops themselves were designed collaboratively and are based on the theoretical principles of graphic medicine, narrative medicine, and racial and social justice. They were conducted as part of a larger wellness initiative and were offered to health care-focused faculty at our academic medical institution. Our findings suggest that this was a beneficial activity which helped participants to reflect and reconsider their experiences with the COVID-19 pandemic and surging awareness of racial injustice. Reflections also showed that drawings were correlated with ProQOL scores and may, in larger numbers, also help to mitigate or bring attention to issues of burnout in frontline providers. Drawings shared show the tremendous impact of COVID-19 and the simultaneous chaos and emptiness of practicing during dual pandemics. Our workshops engaged about 20 frontline health care providers and other health care faculty and highlight the utility of graphic medicine as a tool for building resilience and encouraging self-reflection. Further study is necessary, as is more rigorous analysis of the relationship between the graphics created and the ability to recognize and mitigate burnout.

Impact of Health Perception and Knowledge on Genetic Testing Decisions Using the Health Belief Model

2022 ◽  
Author(s):  
Safa Elkefi ◽  
Avishek Choudhury ◽  
Olga Strachna ◽  
Onur Asan
Keyword(s):  
Health Care ◽  
Genetic Testing ◽  
Cancer Risk ◽  
Health Belief Model ◽  
Health Care Providers ◽  
Health Belief ◽  
Care Providers ◽  
Cancer History ◽  
Belief Model ◽  
The Health Belief Model

PURPOSE Early detection of cancer risk is essential as it is associated with a higher chance of survival, more successful treatment, and improved quality of life. Genetic testing helps at-risk patients estimate the likelihood of developing cancer in a lifetime. This study aims to indentify the factors (perceived susceptibility, severity, benefits, and self-efficacy) that impact one's decision to take the genetic test. METHODS We examined the impacts of different factors of the health belief model on the engagement of patients in genetic testing using data from the National Cancer Institute's 2020 cross-sectional nationally representative data published in 2021. Complete surveys were answered by 3,865 participants (weighted population size = 253,815,197). All estimates were weighted to be nationally representative of the US population using the jackknife weighting method for parameter estimation. We used multivariable logistic regression to test our hypotheses for patients who have taken the genetic test for cancer risk detection. We adjusted the multivariate model for age, education, income, race, sex, cancer history, familial cancer history, and education. RESULTS We tested five hypotheses using the health belief model. Respondents who had genetic testing were more likely to rely on their health care providers and genetic counselors to make their decisions. Respondents who had genetic tests also reported less reliability on other sources than doctors: for the internet and social media (odds ratio = 0.33; P < .001) and for journals and magazines (odds ratio = 0.48; P = .007). CONCLUSION The findings show that patients generally rely on suggestions from their health care providers and counselors in genetic testing decisions. These findings also indicate that health care providers play a critical role in helping patients decide whether to use genetic testing to detect cancer risk in the early stages.

scholarly journals The impact of using primaquine without prior G6PD testing: a case series describing the obstacles to the medical management of haemolysis

2019 ◽  
Vol 4 ◽  
pp. 25 ◽  
Author(s):  
Cindy S. Chu ◽  
Germana Bancone ◽  
Nay Lin Soe ◽  
Verena I. Carrara ◽  
Gornpan Gornsawun ◽  
...  
Keyword(s):  
Health Care Providers ◽  
G6pd Deficiency ◽  
Case Series ◽  
Radical Cure ◽  
Care Providers ◽  
Medical Treatments ◽  
Normal Individuals ◽  
High Index Of Suspicion ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
The Impact

Radical cure of Plasmodium vivax malaria in glucose-6-phosphate dehydrogenase (G6PD) deficient individuals employs weekly primaquine dosing. This is the only recommended regimen for this patient sub-group. If national malaria programs mandate daily primaquine dosing (the recommended regimen for G6PD normal individuals), then G6PD testing before prescription is necessary to avoid iatrogenic haemolysis in G6PD deficient individuals. In this case series, two P. vivax infected patients with unknown G6PD status from two different countries were prescribed primaquine as per national malaria program guidelines. During treatment both patients presented to the clinic with symptoms of anaemia after taking primaquine incorrectly. The clinical management of the iatrogenic severe haemolysis that occurred in these patients demonstrates the various adverse effects primaquine can cause, that other common medical treatments also have haemolytic potential, and how the diagnosis of G6PD deficiency can be elusive during acute haemolysis. Health care providers should provide careful instructions about primaquine dosing, be watchful for haemolysis, and have a high index of suspicion for G6PD deficiency in the presence of haemolysis if the G6PD status is previously unknown.

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