American journal of medicine open最新文献

{"title":"ST Elevation Myocardial Infarction Complicated by Cardiogenic Shock: Systematic Review of Survival Predictors","authors":"John King Khoo MBBS, FRACP ,&nbsp;Benjamin Peter Trewin MBBS, FRACP ,&nbsp;Audrey Adji MB, MBiomedE, PhD ,&nbsp;Yee Weng Wong MBBS, MHS, FRACP, FCSANZ ,&nbsp;Sara Hungerford MBBS, FRACP, FCSANZ, PhD","doi":"10.1016/j.ajmo.2023.100057","DOIUrl":"10.1016/j.ajmo.2023.100057","url":null,"abstract":"<div><h3>Background</h3><p>Cardiogenic shock complicating acute myocardial infarction is associated with reduced survival despite advancements in the treatment of acute coronary syndromes. Characterizing predictors of morbidity and mortality in this setting is crucial to improving risk stratification and management. Notwithstanding, the interplay of factors determining survival in this condition remains poorly studied.</p></div><div><h3>Methods</h3><p>Embase, MEDLINE, and CINAHL databases were searched for original studies evaluating predictors of short-term (30-day or in-hospital) survival in ST elevation myocardial infarction with cardiogenic shock (STEMI-CS). Included studies were analyzed by way of vote counting, identifying variables that predicted mortality or survival.</p></div><div><h3>Results</h3><p>Twenty-four studies, consisting of 14,735 patients (5649 nonsurvivors and 9086 survivors) were included. All studies were observational by design (17 retrospective and 7 prospective) with clinical and statistical heterogeneity. Unsuccessful revascularization, reduced left ventricular ejection fraction, renal impairment, and other variables were identified as key independent predictors of mortality.</p></div><div><h3>Conclusion</h3><p>Several key variables have been shown to independently increase mortality in STEMI-CS populations. Future prospective studies examining the prognostic role of multivariate scoring systems incorporating these domains are required.</p></div>","PeriodicalId":72168,"journal":{"name":"American journal of medicine open","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42067215","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Health-Related Quality of Life Improves in Parallel with FEV1 and 6-Minute Walking Distance Test at Between 3 and 12 Months in Critical COVID-19 Survivors","authors":"Stephanie André ,&nbsp;Anne-Violette Bruyneel ,&nbsp;Audrey Chirumberro ,&nbsp;Alain Roman ,&nbsp;Marc Claus ,&nbsp;Stephane Alard ,&nbsp;Nathalie De Vos ,&nbsp;Marie Bruyneel","doi":"10.1016/j.ajmo.2023.100055","DOIUrl":"10.1016/j.ajmo.2023.100055","url":null,"abstract":"<div><h3>Background</h3><p>In COVID-19 intensive care unit (ICU)–admitted patients, multiorgan acute complications lead to long-lasting sequelae. The aim of this study was to assess (1) changes in chest CT, pulmonary function test (PFT), functional capacity (6-minute walking distance test (6MWT)), and health-related quality of life (HR-QoL) among ICU COVID-19 survivors at 3, 6, and 12 months after ICU discharge and (2) predictors of persistent impairment/improvement in 6MWT and HR-QoL.</p></div><div><h3>Methods</h3><p>ICU COVID-19 survivors were prospectively included. Outcomes at 3, 6, and 12 months included PFT, 6MWT, respiratory muscle strength (RMS), HR-QoL (SF-36), Medical Research Council dyspnea scale (mMRC), and post-COVID Functional Status scale.</p></div><div><h3>Results</h3><p>Eighty-seven survivors were included, from June 3, 2020, to September 2, 2021. At 12 months, 50% of PFT were normal, 46% were restrictive, and 22% showed reduced diffusing capacity for carbon monoxide (DLCO). Impaired DLCO was associated with ICU length of stay and age. In mixed linear model analysis, improvements in RMS and mMRC persisted over time regardless of the adjustments applied (<em>P</em> ≤ .050). SF-36 improved in parallel with FEV1 and 6MWT between 3 and 12 months (<em>P</em> ≤ .044), while increment in DLCO correlated with changes in FEV1 and total lung capacity (TLC) (<em>p</em> ≤ 0.026).</p></div><div><h3>Conclusions</h3><p>This longitudinal study demonstrated that improvements in SF-36 occur in parallel with improvements in FEV1 and 6MWT between 3 and 12 months post-ICU discharge in a sample of critically ill COVID-19 patients. However, PFT remained, however, abnormal in 50% of patients. Based on continued improvements observed from 3 to 12 months, it is anticipated that COVID-19 ICU patients will continue to recover similarly to ARDS patients.</p></div>","PeriodicalId":72168,"journal":{"name":"American journal of medicine open","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48544920","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Is the SIRS Criteria a Good Predictor of Blood stream Infection in Cirrhosis? A Single-Center Retrospective Analysis","authors":"Nandakumar Mohan ,&nbsp;Samir Shah ,&nbsp;Atif Nehvi ,&nbsp;Edward Bley ,&nbsp;Kevin Bryan Lo ,&nbsp;Sarah Perloff","doi":"10.1016/j.ajmo.2023.100052","DOIUrl":"10.1016/j.ajmo.2023.100052","url":null,"abstract":"<div><h3>Introduction</h3><p>Cirrhosis-associated immune dysfunction (CAID) is a chronic vasodilatory state with hyperdynamic circulation and alterations in thermoregulation that may make patients more susceptible to and mask underlying infection. This study aims to determine whether SIRS criteria are an accurate tool for predicting bloodstream infection (BSI) in cirrhosis.</p></div><div><h3>Methods</h3><p>In our retrospective chart review, study population included patients with cirrhosis that were 18 years or older. For all study patients, model for end-stage liver disease (MELD) scores and values for each SIRS variable at the time of admission and blood culture data were recorded. Univariable and multivariable logistic regression analysis was performed to identify any associations between dichotomized SIRS variables that fulfill SIRS positivity and BSI.</p></div><div><h3>Results</h3><p>Significantly more patients without BSI met positivity criteria for WBC counts (30% vs 13% <em>p</em> &lt; .001). In the analysis of the SIRS variables as continuous variables in prediction of BSI, the AUC curves generated were all unsatisfactory with the temperature (36-38°C) and WBC count (4 × 10³ to 12 × 10³ mcL) at the time of admission having the highest areas under the ROC curve (0.52 and 0.55, respectively). Looking at the SIRS variables dichotomized (according to whether fulfilling SIRS criteria or not) in univariable logistic regression, only WBC counts meeting SIRS criteria were significantly associated with BSI OR 0.37 (0.18-0.77); <em>p</em> = .008, but this was an inverse association. This association was true even in the multivariable model OR 0.38 (0.18-0.80); <em>p</em> = .01.</p></div><div><h3>Conclusion</h3><p>Our study shows that SIRS criteria are a poor predictor of BSI among patients with cirrhosis.</p></div>","PeriodicalId":72168,"journal":{"name":"American journal of medicine open","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43022180","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Nephrologist-Led Simulation-Based Focused Cardiac Ultrasound Workshop for Medical Students: Insights and Implications","authors":"Abhilash Koratala ,&nbsp;Hari R. Paudel ,&nbsp;Kevin R. Regner","doi":"10.1016/j.ajmo.2023.100051","DOIUrl":"10.1016/j.ajmo.2023.100051","url":null,"abstract":"<div><h3>Background</h3><p>Point-of-care ultrasonography (POCUS) is being increasingly recognized as an adjunct to physical examination. However, limited availability of trained faculty in specialties other than emergency medicine and lack of universal training standards remain key barriers to its widespread integration into undergraduate and graduate medical curricula. In this study, we sought to explore the effectiveness of a short simulation-based workshop for medical students teaching basic cardiac ultrasound led by a nephrologist.</p></div><div><h3>Methods</h3><p>Workshops were conducted for 2 different groups of 4th-year medical students with a total of 25 attendees. The workshop consisted of a 1-hour lecture followed by 15 minutes of cardiac anatomy simulation and a 2- to 2.5-hour hands-on session in the simulation laboratory. An anonymous precourse questionnaire comprising 10 questions assessing the interpretation of common grayscale ultrasound findings encountered in patients with undifferentiated hypotension was performed. After the workshop, a postcourse exam and survey were conducted, retesting the same concepts and seeking the students’ feedback on the course.</p></div><div><h3>Results</h3><p>In total, 23 and 20 students answered the pre- and postcourse surveys, respectively. The mean total score on the pretest was 63.8% ± 13.6%, which significantly increased to 91.5% ± 10.5% on the posttest (<em>P</em> &lt; .001). About 90% of the respondents strongly agreed that the cardiac anatomy simulation improved their understanding of the cardiac sonographic anatomy; 75% strongly agreed that the hands-on simulation enhanced their confidence in image acquisition and interpretation; and 70% said they would choose nephrology elective if POCUS training was integrated with it.</p></div><div><h3>Conclusions</h3><p>A nephrologist-led diagnostic POCUS workshop using simulation techniques is effective in improving the learners’ knowledge, understanding of the sonographic cardiac anatomy, and confidence in image acquisition. Integration of POCUS training may increase medical student interest in nephrology elective rotations.</p></div>","PeriodicalId":72168,"journal":{"name":"American journal of medicine open","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45006862","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Significance of Quantitative Viral Load in Patients Positive for SARS-CoV-2","authors":"Shannon W. Finks,&nbsp;Edward Van Matre,&nbsp;William Budd,&nbsp;Elizabeth Lemley,&nbsp;N. Katherine Ray,&nbsp;Madeline Mahon,&nbsp;Erin Chambers,&nbsp;A. Lloyd Finks","doi":"10.1016/j.ajmo.2023.100050","DOIUrl":"10.1016/j.ajmo.2023.100050","url":null,"abstract":"<div><p>Cycle threshold (CT) refers to the number of cycles in a reverse transcriptase polymerase chain reaction (RT-PCR) assay needed to amplify viral RNA and can be used to indicate viral load. CT is inversely related to viral load, where lower CT values indicate higher viral levels. Data suggest lower CT scores are associated with worse outcomes in COVID; however, quantitative CT scores are not typically reported to patients. This retrospective analysis examined the use of CT scores in patient counseling for positive COVID results and suggests that higher viral loads were associated with greater need for prescription drug therapy in the outpatient setting. Patient perception of CT score was found to influence masking and quarantine behavior. We hypothesize that a quantitative threshold for viral load such as CT can be useful in patient counseling, estimating need for drug therapy, and influencing behavior toward public health concerns.</p></div>","PeriodicalId":72168,"journal":{"name":"American journal of medicine open","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43692669","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Patterns of Digoxin Prescribing for Medicare Beneficiaries in the United States 2013-2019","authors":"Claudia See ,&nbsp;Kevin M. Wheelock ,&nbsp;César Caraballo ,&nbsp;Rohan Khera ,&nbsp;Amarnath Annapureddy ,&nbsp;Shiwani Mahajan ,&nbsp;Yuan Lu ,&nbsp;Harlan M. Krumholz ,&nbsp;Karthik Murugiah","doi":"10.1016/j.ajmo.2023.100048","DOIUrl":"10.1016/j.ajmo.2023.100048","url":null,"abstract":"<div><h3>Background</h3><p>Studies show that digoxin use is declining but is still prevalent. Recent data on digoxin prescription and characteristics of digoxin prescribers are unknown, which can help understand its contemporary use.</p></div><div><h3>Methods</h3><p>Using Medicare Part D data from 2013 to 2019, we studied the change in number and proportion of digoxin prescriptions and digoxin prescribers, overall and by specialty. Using logistic regression, we identified prescriber characteristics associated with digoxin prescription.</p></div><div><h3>Results</h3><p>From 2013 to 2019, total digoxin prescriptions (4.6 to 1.8 million) and proportion of digoxin prescribers decreased (9.1% to 4.3% overall; 26.6% to 11.8% among General Medicine prescribers and 65.4% to 48.9% among Cardiology). Of digoxin prescribers from 2013 practicing in 2019 (91.2% remained active), 59.1% did not prescribe digoxin at all, 31.7% reduced, and 9.2% maintained or increased prescriptions. The proportion of all digoxin prescriptions that were prescribed by General Medicine prescribers declined from 59.7% to 48.2% and increased for Cardiology (29% to 38.5%). Among new prescribers in 2019 (<em>N</em> = 85,508), only 1.9% prescribed digoxin. Digoxin prescribers when compared to non–digoxin prescribers were more likely male, graduated from medical school earlier, were located in the Midwest or South, and belonged to Cardiology (all <em>P</em> &lt; .001).</p></div><div><h3>Conclusions</h3><p>Digoxin prescriptions continue to decline with over half of 2013 prescribers no longer prescribing digoxin in 2019. This may be a result of the increasing availability of newer heart failure therapies. The decline in digoxin prescription was greater among general medicine physicians than cardiologists, suggesting a change in digoxin use to a medication prescribed increasingly by specialists.</p></div>","PeriodicalId":72168,"journal":{"name":"American journal of medicine open","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42025200","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence and Factors Associated with Prehypertension and Hypertension Among Adults: Baseline Findings of PURE Malaysia Cohort Study","authors":"Rosnah Ismail ,&nbsp;Noor Hassim Ismail ,&nbsp;Zaleha Md Isa ,&nbsp;Azmi Mohd Tamil ,&nbsp;Mohd Hasni Ja'afar ,&nbsp;Nafiza Mat Nasir ,&nbsp;Suraya Abdul-Razak ,&nbsp;Najihah Zainol Abidin ,&nbsp;Nurul Hafiza Ab Razak ,&nbsp;Philip Joseph ,&nbsp;Khairul Hazdi Yusof","doi":"10.1016/j.ajmo.2023.100049","DOIUrl":"10.1016/j.ajmo.2023.100049","url":null,"abstract":"<div><h3>Background</h3><p>Although prehypertension and hypertension can be detected at the primary healthcare level and low-cost treatments can effectively control its complications, hypertension is still the world's leading preventable risk factor. Therefore, the present study aimed to determine its prevalence and its risk factors among Malaysian adults.</p></div><div><h3>Methods</h3><p>A cross-sectional study involving 7585 adults was performed covering the rural and urban areas. Respondents with systolic blood pressure (SBP) of 120-139 mmHg and/or diastolic blood pressure (DBP) of 80-89 mmHg were categorized as prehypertensive, and hypertensive categorization was used for respondents with an SBP of ≥140 mmHg and/or DBP of ≥90 mmHg.</p></div><div><h3>Results</h3><p>Respondents reported to have prehypertension and hypertension were 40.7% and 38.0%, respectively. Those residing in a rural area, older age, male, family history of hypertension, and overweight or obese were associated with higher odds of prehypertension and hypertension. Unique to hypertension, the factors included low educational level (AOR: 1.349; 95% CI: 1.146, 1.588), unemployment (1.350; 1.16, 1.572), comorbidity of diabetes (1.474; 1.178, 1.844), and inadequate fruit consumption (1.253; 1.094, 1.436).</p></div><div><h3>Conclusions</h3><p>As the prehypertensive state may affect the prevalence of hypertension, proactive strategies are needed to increase early detection of the disease among specific group of those residing in a rural area, older age, male, family history of hypertension, and overweight or obese.</p></div>","PeriodicalId":72168,"journal":{"name":"American journal of medicine open","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46528268","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Social Determinants of Health in Women With Heart Failure: Prospective Observational Cohort Study","authors":"Dae Hyun Lee ,&nbsp;Vidhi Patel ,&nbsp;Nicholas Mencer ,&nbsp;Sasha Ann East ,&nbsp;Nhi Tran ,&nbsp;Theresa Beckie ,&nbsp;Janice Zgibor ,&nbsp;Joel Fernandez","doi":"10.1016/j.ajmo.2023.100047","DOIUrl":"10.1016/j.ajmo.2023.100047","url":null,"abstract":"<div><h3>Objective</h3><p>The social determinants of health (SDoH) account for 80%-90% of modifiable contributors to health outcomes for chronic diseases such as heart failure. Knowledge gaps exist on how SDoH influences hospitalization rates in women with heart failure. Our aim was to evaluate the relationship between the baseline SDoH status of women with heart failure with subsequent all-cause and cardiovascular hospitalization.</p></div><div><h3>Methods</h3><p>This is a prospective observational longitudinal cohort study of women diagnosed with heart failure with 6-month follow-up. The subjects completed SDoH assessment by the Institute of Medicine. Monthly follow-ups were performed to assess for hospitalization events.</p></div><div><h3>Results</h3><p>A total of 92 patients with at least 1 follow-up clinic visit were included. The mean age was 66 ± 15 years and 80% had nonischemic cardiomyopathy as the etiology of heart failure. New York Heart Association (NYHA) Classifications I-II were the most common (<em>n</em> = 66, 71.8%). In total, 51 patients (55.4%) had overall high-risk SDoH (4 or more SDoH domains at risk). By the 6-month follow-up, 22 (23.9%) patients were hospitalized for any cause; 8 patients (8.7%) were hospitalized for cardiovascular causes. There were no deaths. In multivariate logistic regression analysis, the high-risk SDoH group had a higher odds ratio for all-cause hospitalization (OR 5.31, 95% CI 1.59-17.73). In addition, Kansas City Cardiomyopathy Questionnaire 12-item (KCCQ-12) scores, surrogate for quality of life, were worse in the high-risk SDoH group.</p></div><div><h3>Conclusion</h3><p>SDoH adversely impacts hospitalizations and quality of life in women with heart failure. Future efforts for screening and interventions should evaluate the SDoH at all levels, including the individual health care provider, institutional, and national levels.</p></div>","PeriodicalId":72168,"journal":{"name":"American journal of medicine open","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48188924","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical and Laboratory Correlates of QTc Duration in Adult and Pediatric Sickle Cell Disease","authors":"Xue Yu ,&nbsp;Suvankar Majumdar ,&nbsp;J. Daryl Pollard ,&nbsp;Erin Jackson ,&nbsp;Jarrod Knudson ,&nbsp;Douglas Wolfe ,&nbsp;Gregory J. Kato ,&nbsp;Joseph F. Maher","doi":"10.1016/j.ajmo.2023.100045","DOIUrl":"https://doi.org/10.1016/j.ajmo.2023.100045","url":null,"abstract":"<div><h3>Background</h3><p>Sickle cell disease, a common genetic disorder in African Americans, manifests an increased risk of sudden death, the basis of which is incompletely understood. Prolongation of heart rate–corrected QT (QTc) interval on the electrocardiogram, a standard clinical measure of cardiac repolarization, may contribute to sudden death by predisposing to <em>torsades de pointes</em> ventricular tachycardia.</p></div><div><h3>Methods</h3><p>We established a cohort study of 293 adult and 121 pediatric sickle cell disease patients drawn from the same geographic region as the Jackson Heart Study (JHS) cohort, in which significant correlates of QT duration have been characterized and quantitatively modeled. Herein, we establish clinical and laboratory correlates of QTc duration in our cohort using stepwise multivariate linear regression analysis. We then compared our adult sickle cell disease data to effect-size predictions from the published JHS statistical model of QT interval duration.</p></div><div><h3>Results</h3><p>In adult sickle cell disease, gender, diuretic use, QRS duration, serum ALT levels, anion gap, and diastolic blood pressure show positive correlation; hemoglobin levels show inverse correlation; in pediatric sickle cell disease, age, hemoglobin levels, and serum bicarbonate and creatinine levels show inverse correlation. The mean QTc in our adult sickle cell disease cohort is 7.8 milliseconds longer than in the JHS cohort, even though the JHS statistical model predicts that the mean QTc in our cohort should be &gt;11 milliseconds shorter than in the much older JHS cohort, a differential of &gt;18 milliseconds.</p></div><div><h3>Conclusion</h3><p>Sickle cell disease patients have substantial QTc prolongation relative to their age, driven by factors, some overlapping, in adult and pediatric sickle cell disease, and distinct from those that have been defined in the general African American community.</p></div>","PeriodicalId":72168,"journal":{"name":"American journal of medicine open","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49715274","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Screening for Hereditary Hemochromatosis in Newly Referred Diabetes Mellitus","authors":"Michael Lockhart,&nbsp;Muhammad Ridhwaan Salehmohamed,&nbsp;Dileep Kumar,&nbsp;Anne Graham Cummiskey,&nbsp;Keat Cheah Seong,&nbsp;Seamus Sreenan,&nbsp;John McDermott","doi":"10.1016/j.ajmo.2023.100046","DOIUrl":"https://doi.org/10.1016/j.ajmo.2023.100046","url":null,"abstract":"<div><h3>Aims</h3><p>Hereditary hemochromatosis (HH) is the most common inherited disease in European populations. It is particularly common in people of Irish heritage, approximately 2% of whom will be at risk of iron overload as a result of human homoeostatic iron regulator protein (<em>HFE</em>) gene mutations. We aimed to evaluate the utility of screening for HH in newly referred patients with DM of Irish heritage in a prospective study.</p></div><div><h3>Methods</h3><p>Of 575 patients newly referred between March 2018 and March 2021, 556 attended for blood testing, to include fasting transferrin saturations, prior to their first clinic visit. Patients with elevated transferrin saturations were further screened for hereditary hemochromatosis (HH) with <em>HFE</em> gene analysis.</p></div><div><h3>Results</h3><p>Transferrin saturations were elevated in 13 of 556 patients (2.3%), 3 of whom had a preexisting diagnosis of HH. Of the remaining 10 patients, 7 had <em>HFE</em> gene mutations suggestive of HH (2 C282Y homozygous, 3 C282Y/H63D compound heterozygous, and 2 H63D homozygous), 1 was a HH carrier (C282Y heterozygous), and 2 had normal genetics.</p></div><div><h3>Conclusions</h3><p>The prevalence of HH of 1.8% in this screened DM population is lower than the reported incidence of HH in the Irish population, suggesting a limited utility of routine screening for HH in newly referred patients with DM.</p></div>","PeriodicalId":72168,"journal":{"name":"American journal of medicine open","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49714985","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}