Journal of Clinical and Translational Endocrinology最新文献

{"title":"Safety and prescribing recommendations for verapamil in newly diagnosed pediatric type 1 diabetes (T1D): The CLVer experience","authors":"Laya Ekhlaspour ,&nbsp;Bruce Buckingham ,&nbsp;Colleen Bauza ,&nbsp;Mark Clements ,&nbsp;Gregory P. Forlenza ,&nbsp;Anna Neyman ,&nbsp;Lisa Norlander ,&nbsp;Marcus Schamberger ,&nbsp;Jennifer L. Sherr ,&nbsp;Ryan Bailey ,&nbsp;Roy W. Beck ,&nbsp;Craig Kollman ,&nbsp;Shannon Beasley ,&nbsp;Erin Cobry ,&nbsp;Linda A. DiMeglio ,&nbsp;Emily Paprocki ,&nbsp;Michelle Van Name ,&nbsp;Antoinette Moran ,&nbsp;for the CLVer Study Group","doi":"10.1016/j.jcte.2024.100352","DOIUrl":"https://doi.org/10.1016/j.jcte.2024.100352","url":null,"abstract":"<div><h3>Objectives</h3><p>To report the safety and side effects associated with taking verapamil for beta-cell preservation in children with newly-diagnosed T1D.</p></div><div><h3>Research Design and Methods</h3><p>Eighty-eight participants aged 8.5 to 17.9 years weighing ≥ 30 kg were randomly assigned to verapamil (N = 47) or placebo (N = 41) within 31 days of T1D diagnosis and followed for 12 months from diagnosis, main CLVer study. Drug dosing was weight-based with incremental increases to full dosage. Side effect monitoring included serial measurements of pulse, blood pressure, liver enzymes, and electrocardiograms (ECGs). At study end, participants were enrolled in an observational extension study (CLVerEx), which is ongoing. No study drug is provided during the extension, but participants may use verapamil if prescribed by their diabetes care team.</p></div><div><h3>Results</h3><p>Overall rates of adverse events were low and comparable between verapamil and placebo groups. There was no difference in the frequency of liver function abnormalities. Three CLVer participants reduced or discontinued medication due to asymptomatic ECG changes. One CLVerEx participant (18 years old), treated with placebo during CLVer, who had not had a monitoring ECG, experienced complete AV block with a severe hypotensive episode 6 weeks after reaching his maximum verapamil dose following an inadvertent double dose on the day of the event.</p></div><div><h3>Conclusions</h3><p>The use of verapamil in youth newly-diagnosed with T1D appears generally safe and well tolerated with appropriate monitoring. We strongly recommend monitoring for potential side effects including an ECG at screening and an additional ECG once full dosage is reached.</p><p>ClinicalTrials.gov number: NCT04233034.</p></div>","PeriodicalId":46328,"journal":{"name":"Journal of Clinical and Translational Endocrinology","volume":"36 ","pages":"Article 100352"},"PeriodicalIF":3.0,"publicationDate":"2024-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2214623724000231/pdfft?md5=10ea6d43da09c7d917395ad3e10ac462&pid=1-s2.0-S2214623724000231-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141077651","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":"Family planning preferences in transgender youth in an urban multi-disciplinary gender clinic","authors":"Ryan Conard ,&nbsp;Lisal Folsom","doi":"10.1016/j.jcte.2024.100353","DOIUrl":"https://doi.org/10.1016/j.jcte.2024.100353","url":null,"abstract":"<div><h3>Background</h3><p>Known barriers to family planning in the transgender population include low utilization of cryopreservation and decisional regret. There is growing data on the risk of infertility with GAHT, and on to what degree transgender adolescents feel informed about fertility and family planning options.</p></div><div><h3>Objective</h3><p>Assess preferences regarding options for family planning and fertility preservation in transgender adolescents treated with GAHT in a pediatric endocrinology gender clinic. The goal is to enhance patient education about potential effects of GAHT on fertility and options for family planning.</p></div><div><h3>Methods</h3><p>Forty one adolescents aged 10 years and older treated with GAHT in an urban outpatient pediatric endocrinology clinic were surveyed over a 6-month period from January to June 2022. Survey questions were multiple choice, Likert scale, and open-ended. Participants were at least 10 years of age, actively followed in the clinic, and receiving GAHT at time of enrollment.</p></div><div><h3>Results</h3><p>Forty one participants completed the survey. Four (10 %) expressed interest in discussing family planning with their provider. Eighteen (45 %) were open to discussion in the future; 16 (39 %) were not interested at all. 12 (30 %) participants were planning for future parenthood, and 16 (40 %) participants were undecided. Of those interested in parenthood 7 (53.8 %) planned to adopt or foster. Barriers to family planning expressed included financial concerns, potential need to pause GAHT, and social stigma of transgender parenthood. Twenty (50 %) participants recalled prior family planning discussion with their endocrinologist.</p></div><div><h3>Conclusion</h3><p>Family planning discussions may not be optimally impactful given that 50 % of participants did not recall the conversations. Family planning is a lower priority in this population as most desired to postpone discussion with their provider despite choosing treatment that could influence fertility. It is essential to identify methods to engage transgender youth in discussions related to family planning during GAHT.</p></div>","PeriodicalId":46328,"journal":{"name":"Journal of Clinical and Translational Endocrinology","volume":"36 ","pages":"Article 100353"},"PeriodicalIF":3.0,"publicationDate":"2024-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2214623724000243/pdfft?md5=64aa9a33c2b6dd2804b28bf27528fa9e&pid=1-s2.0-S2214623724000243-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141091064","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":"Association between protein arginine N-methyltransferase 1 polymorphism and overt diabetic nephropathy: Role of asymmetric dimethylarginine in vascular tone","authors":"Hiroaki Iwasaki","doi":"10.1016/j.jcte.2024.100351","DOIUrl":"https://doi.org/10.1016/j.jcte.2024.100351","url":null,"abstract":"<div><h3>Background</h3><p>ω-<em>N</em>^G,<em>N</em>^G-asymmetric dimethylarginine (ADMA) regulates vascular tone and may participate in the pathogenesis of diabetic nephropathy (DN).</p></div><div><h3>Objective</h3><p>To investigate whether single-nucleotide polymorphisms (SNPs) around the protein arginine <em>N</em>-methyltransferase 1 gene (<em>PRMT1</em>) influence ADMA dynamics and DN incidence and severity.</p></div><div><h3>Methods</h3><p>This study utilized a hospital-based database containing 310 Japanese patients with type 2 diabetes mellitus (T2DM). The association of <em>PRMT1</em>-related tagged SNPs with DN stage distribution was examined using a dominant model of minor alleles. <em>PRMT1</em> mRNA, serum ADMA, reactive hyperemia-peripheral arterial tonometry index (RHI), and brachial-ankle pulse wave velocity (baPWV) were compared between the genotype-based subgroups of causal SNP, and correlations between these variables were evaluated.</p></div><div><h3>Results</h3><p>The composition of DN stages significantly differed between the GG and GA + AA subgroups of rs892151 (<em>p</em> = 0.026). In a propensity-matching cohort of rs892151, the GA + AA subgroup had an increased incidence of overt DN (odds ratio 2.92, 95 % confidence interval 1.12–7.62, <em>p</em> = 0.028), along with higher <em>PRMT1</em> mRNA, serum ADMA levels, and baPWV than the GG subgroup (<em>p</em> &lt; 0.001, <em>p</em> = 0.023 and 0.047, respectively). There were correlations between <em>PRMT1</em> mRNA and serum ADMA levels, between serum ADMA levels and RHI, and between baPWV and urinary albumin excretion (<em>r</em> = 0.335, <em>p</em> &lt; 0.001, <em>r</em> = -0.221, <em>p</em> = 0.029, and <em>r</em> = 0.254, <em>p</em> = 0.004, respectively).</p></div><div><h3>Conclusions</h3><p>T2DM patients carrying the <em>PRMT1</em>-related variant rs892151 were susceptible to overt DN. ADMA-mediated endothelial dysfunction and arterial stiffness may be involved in the variant-related pathogenesis of overt DN.</p></div>","PeriodicalId":46328,"journal":{"name":"Journal of Clinical and Translational Endocrinology","volume":"36 ","pages":"Article 100351"},"PeriodicalIF":3.0,"publicationDate":"2024-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S221462372400022X/pdfft?md5=0298406e225eb2d925a3f714ef9fb050&pid=1-s2.0-S221462372400022X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140948807","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":"Impact of sex used for assignment of reference intervals in a population of patients taking gender-affirming hormones","authors":"Matthew D. Krasowski ,&nbsp;Nicole G. Hines ,&nbsp;Katherine L. Imborek ,&nbsp;Dina N. Greene","doi":"10.1016/j.jcte.2024.100350","DOIUrl":"https://doi.org/10.1016/j.jcte.2024.100350","url":null,"abstract":"<div><h3>Background</h3><p>Gender-affirming hormone therapy with either estradiol or testosterone for transgender persons can significantly impact chemistry and hematology laboratory tests. The sex used for assignment of reference intervals (RIs) in the electronic health record (EHR) will influence normal/abnormal flagging of test results.</p></div><div><h3>Objective</h3><p>To analyze common non-hormonal laboratory tests with sex-specific RIs ordered in patients with sexual orientation/gender identify (SOGI) field differences (one or more differences between legal sex, sex assigned at birth, and gender identity) in the EHR at an academic medical center in midwestern United States.</p></div><div><h3>Methods</h3><p>We utilized a previously characterized data set of patients at our institution that included chart review information on gender identity and gender-affirming therapy. We focused on the subset of these patients that had orders for 18 common laboratory tests in calendar year 2021.</p></div><div><h3>Results</h3><p>A total of 1336 patients with SOGI field differences (1218 or 91.2% identifying as gender-expansive; 892 or 66.8% receiving estradiol or testosterone as gender-affirming therapy) had a total of 9374 orders for 18 laboratory tests with sex-specific RIs. Hemoglobin, creatinine, alkaline phosphatase, alanine aminotransferase, aspartate aminotransferase, and high-density lipoprotein were the most frequently ordered tests. For patients taking estradiol, 128 of 970 (13.2%) creatinine and 39 of 193 (20.2%) hemoglobin measurements were within the RI for one sex but not the other. For those taking testosterone, 119 of 531 (22.4%) creatinine and 49 of 120 (40.8%) hemoglobin measurements were within the RI for one sex but not the other. Values above the cisgender female RI but within the cisgender male RI were common for hemoglobin, alkaline phosphatase, alanine aminotransferase, and aspartate aminotransferase in patients taking testosterone.</p></div><div><h3>Conclusions</h3><p>Clinicians should be aware of the potential impact of gender-affirming therapy on laboratory tests and what sex/gender is being used in the EHR to assign RIs.</p></div>","PeriodicalId":46328,"journal":{"name":"Journal of Clinical and Translational Endocrinology","volume":"36 ","pages":"Article 100350"},"PeriodicalIF":3.0,"publicationDate":"2024-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2214623724000218/pdfft?md5=1d1ac92efa9497b47d10f9bcf54a65cb&pid=1-s2.0-S2214623724000218-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140822875","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":"The association of gender-affirming hormone therapy duration and body mass index on bone mineral density in gender diverse adults","authors":"Sean J. Iwamoto ,&nbsp;John D. Rice ,&nbsp;Kerrie L. Moreau ,&nbsp;Marc-André Cornier ,&nbsp;Margaret E. Wierman ,&nbsp;Mary P. Mancuso ,&nbsp;Amanuail Gebregzabheir ,&nbsp;Daniel B. Hammond ,&nbsp;Micol S. Rothman","doi":"10.1016/j.jcte.2024.100348","DOIUrl":"https://doi.org/10.1016/j.jcte.2024.100348","url":null,"abstract":"<div><h3>Introduction</h3><p>Feminizing and masculinizing gender-affirming hormone therapy (fGAHT, mGAHT) results in bone mineral density (BMD) maintenance or improvement over time in transgender and gender diverse (TGD) adults. Mostly European TGD studies have explored GAHT’s impact on BMD, but the association of BMI and BMD in TGD adults deserves further study.</p></div><div><h3>Objective</h3><p>To determine whether GAHT duration or BMI are associated with BMD and Z-scores among TGD young adults.</p></div><div><h3>Methods</h3><p>Cross-sectional study of nonsmoking TGD adults aged 18–40 years without prior gonadectomy or gonadotropin-releasing hormone agonist (GnRHa) therapy taking GAHT for &gt; 1 year. BMD and Z-scores were collected from dual-energy x-ray absorptiometry. Associations between femoral neck, total hip, and lumbar spine BMDs and Z-scores and the predictors, GAHT duration and BMI, were estimated using linear regression.</p></div><div><h3>Results</h3><p>Among 15 fGAHT and 15 mGAHT, mean BMIs were 27.6 +/- standard deviation (SD) 6.4 kg/m² and 25.3 +/- 5.9 kg/m², respectively. Both groups had mean BMDs and Z-scores within expected male and female reference ranges at all three sites. Higher BMI among mGAHT was associated with higher femoral neck and total hip BMDs (femoral neck: β = 0.019 +/- standard error [SE] 0.007 g/cm², total hip: β = 0.017 +/- 0.006 g/cm²; both p &lt; 0.05) and Z-scores using male and female references. GAHT duration was not associated with BMDs or Z-scores for either group.</p></div><div><h3>Conclusions</h3><p>Z-scores in young, nonsmoking TGD adults taking GAHT for &gt; 1 year, without prior gonadectomy or GnRHa, and with mean BMIs in the overweight range, were reassuringly within the expected ranges for age based on male and female references. Higher BMI, but not longer GAHT duration, was associated with higher femoral neck and total hip BMDs and Z-scores among mGAHT. Larger, prospective studies are needed to understand how body composition changes, normal or low BMIs, and gonadectomy affect bone density in TGD adults.</p></div>","PeriodicalId":46328,"journal":{"name":"Journal of Clinical and Translational Endocrinology","volume":"36 ","pages":"Article 100348"},"PeriodicalIF":3.0,"publicationDate":"2024-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S221462372400019X/pdfft?md5=9da660886ea8d958e187bf2fab569fd2&pid=1-s2.0-S221462372400019X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140842788","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":"Changes in Blood Lipids Following Initiation of Gender Affirming Hormone Therapy: A Systematic Review and Meta-Analysis","authors":"Bennett Gosiker ,&nbsp;Jude Moutchia ,&nbsp;Nghiem Nguyen ,&nbsp;Darios Getahun ,&nbsp;Michael Goodman","doi":"10.1016/j.jcte.2024.100349","DOIUrl":"https://doi.org/10.1016/j.jcte.2024.100349","url":null,"abstract":"<div><h3>Aim</h3><p>The aim of this study was to conduct a systematic review and meta-analysis of changes in low density lipoprotein cholesterol (LDL-C), high density lipoprotein cholesterol (HDL-C), total cholesterol, and triglycerides following initiation of feminizing or masculinizing gender affirming hormone therapy (GAHT).</p></div><div><h3>Methods</h3><p>A search of Ovid MEDLINE, Embase, Web of Science, SCOPUS, and CINAHL databases identified potentially relevant articles published from 1990 through 2024. Both observational and randomized trials of adults receiving feminizing or masculinizing GAHT with baseline and follow-up measures were included. Articles were reviewed for eligibility using Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) 2020 guidelines. The risk of bias in each study was quantified using the NHLBI Study Quality Assessment Tool for Before-After (Pre-Post) Studies with No Control Group. Random effects models were used to compute the before-and-after meta-differences in mean values for each parameter along with the I² statistic to assess heterogeneity of results.</p></div><div><h3>Results</h3><p>Thirty-five studies met the criteria for inclusion in the meta-analysis. Masculinizing GAHT was associated with significant changes in serum lipids from baseline up through the 60-month timepoint with meta-difference of means (95% CI) estimates of 26.2mg/dL (23.3,29.0) for LDL-C, 26.1mg/dL (22.8,29.4) for total cholesterol, 30.7mg/dL (6.9,54.6) for triglycerides and –9.4mg/dL (–12.1, –6.7) for HDL-C. Studies evaluating the effects of feminizing GAHT on balance demonstrated no notable changes in HDL-C or triglycerides while the results for LDL-C and total cholesterol were inconsistent. Heterogeneity of results ranged from minimal (I² = 0%) to substantial (I² = 90%).</p></div><div><h3>Conclusions</h3><p>While the results for transfeminine individuals on GAHT appear somewhat reassuring, transmasculine patients receiving testosterone may benefit from closer monitoring of lipid profiles.</p></div>","PeriodicalId":46328,"journal":{"name":"Journal of Clinical and Translational Endocrinology","volume":"36 ","pages":"Article 100349"},"PeriodicalIF":3.0,"publicationDate":"2024-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2214623724000206/pdfft?md5=f4804663c2177e648dc494ba17487bc7&pid=1-s2.0-S2214623724000206-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140822915","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":"High levels of blood glycemic indicators are associated with chronic kidney disease prevalence in non-diabetic adults: Cross-sectional data from the national health and nutrition examination survey 2005–2016","authors":"Lu Jin ,&nbsp;Xing Wang ,&nbsp;Yun Liu ,&nbsp;Qiulian Xiang ,&nbsp;Ruiou Huang","doi":"10.1016/j.jcte.2024.100347","DOIUrl":"https://doi.org/10.1016/j.jcte.2024.100347","url":null,"abstract":"<div><h3>Objective</h3><p>Hyperglycemia in individuals with diabetes is associated with chronic kidney disease (CKD); however, little is known about its association with those without diabetes. Our goal was to investigate the association between glycemic indicators and CKD in individuals without diabetes.</p></div><div><h3>Methods</h3><p>This cross-sectional study included 9610 participants without diabetes who participated in the Health and Nutrition Examination Survey between 2005 and 2016. Exposures included postprandial glucose dip (PGD), fasting blood glucose (FBG), oral glucose tolerance test two-hour blood glucose (OGTT-2HBG), and glycated hemoglobin (HbA1C) levels. Moreover, CKD was defined as an estimated glomerular filtration rate below 60 mL/min per 1.73 m² or a urinary albumin-creatinine ratio of ≥ 30 mg/g. Two multivariate models were constructed. Interaction effects were also explored.</p></div><div><h3>Results</h3><p>The mean age of the participants was 46.0 years, with 50.3 % being females. The prevalence of CKD was 12.6 %. In the final multivariable models, the odds ratios (ORs) for CKD were 1.51 (95 % confidence interval [CI]: 1.22,1.88, p &lt; 0.001) for participants in the highest quartile of PGD,1.46 (95 %CI: 1.13,1.87, p = 0.004) for OGTT-2HBG, and 1.33 (95 %CI: 1.04,1.70, p = 0.020) for HbA1C, when compared with the quartile 1. No significant association was observed between FBG levels and CKD in the final model. Additionally, interactions were observed between PGD and body mass index, as well as between PGD and alcohol consumption in relation to CKD.</p></div><div><h3>Conclusion</h3><p>The study identified that high levels of PGD, OGTT-2HBG, and HBA1C were significantly associated with a high prevalence of CKD in individuals without diabetes.</p></div>","PeriodicalId":46328,"journal":{"name":"Journal of Clinical and Translational Endocrinology","volume":"36 ","pages":"Article 100347"},"PeriodicalIF":3.0,"publicationDate":"2024-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2214623724000188/pdfft?md5=d36131a67db2a04db3cc4773cccdaccf&pid=1-s2.0-S2214623724000188-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140822876","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":"Bone health and fracture prevention after kidney transplantation","authors":"Vishal Jaikaransingh","doi":"10.1016/j.jcte.2024.100345","DOIUrl":"https://doi.org/10.1016/j.jcte.2024.100345","url":null,"abstract":"<div><p>Changes in bone health and strength are common after kidney transplantation and can lead to an increased risk of fracture. This has implications for morbidity, mortality and renal allograft survival. This review will focus on the changes that occur in bone health and fracture risk after kidney transplantation and examine the evidence available to guide diagnostic and therapeutic decisions with the aim of fracture prevention.</p></div>","PeriodicalId":46328,"journal":{"name":"Journal of Clinical and Translational Endocrinology","volume":"36 ","pages":"Article 100345"},"PeriodicalIF":3.0,"publicationDate":"2024-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2214623724000164/pdfft?md5=606c703ed432c8d66e6cd07a3e63220a&pid=1-s2.0-S2214623724000164-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140822877","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":"Development and acceptability of a culturally competent skills and knowledge assessment tool for patients with diabetes mellitus","authors":"Stephanie Hakimian ,&nbsp;Susan Karam ,&nbsp;Kim Pardilla ,&nbsp;Kasey Coyne ,&nbsp;Emilie K. Touma ,&nbsp;Diane Larsen ,&nbsp;Jane L. Holl ,&nbsp;Amisha Wallia","doi":"10.1016/j.jcte.2024.100346","DOIUrl":"10.1016/j.jcte.2024.100346","url":null,"abstract":"<div><h3>Background</h3><p>Patients newly diagnosed with type 2 diabetes mellitus (DM) and newly prescribed insulin need to learn essential self-care and management skills quickly. To optimize teaching, clinicians need to assess a patient’s basic understanding of DM and their skills. While DM patient assessments exist, this study reports the development of an assessment of patient DM management skills and knowledge, using feedback from DM clinicians, patients, and caregivers.</p></div><div><h3>Research Design and Methods</h3><p>A systematic search of Pubmed/Medline and Scopus (1980–2017) of DM knowledge assessments was performed. Twenty-four studies were identified. Content from the existing assessments was adapted to create a 12 item DM-Skills Knowledge Assessment (SKA) to assess a patient’s DM management skills and knowledge. To assess cultural humility, modified cognitive interviews were conducted in individual user sessions and semi-structured focus groups. Audio-transcripts of the interviews/focus groups were independently coded, and codes were grouped into key themes. Participant demographic characteristics were assessed.</p></div><div><h3>Results</h3><p>Five focus groups and eleven key informant interviews were conducted, including 10 DM clinicians, 12 patients/caregivers, and 15 laypersons. All 10 clinicians reported that the DM-SKA addresses the key domains of DM education deemed to be of highest importance during the transition from hospital to home and that their patients would be willing to complete the assessment. More than half of the patient/caregiver/layperson participants self-reported race/ethnicity other than non-Hispanic white and performed similarly to non-Hispanic white participants in understanding each item, willingness to complete the DM-SKA, and perception that family or community members would be willing to complete the DM-SKA. The DM-SKA has a baseline Flesch reading score of 81.3, indicating low complexity language.</p></div><div><h3>Conclusion</h3><p>DM clinicians agreed that the DM-SKA assesses all essential DM management skills. For patients/caregivers, it has acceptable literacy, cognitive validity, and culturally acceptable for racial/ethnic minority populations in the study, including elderly persons.</p></div>","PeriodicalId":46328,"journal":{"name":"Journal of Clinical and Translational Endocrinology","volume":"36 ","pages":"Article 100346"},"PeriodicalIF":3.0,"publicationDate":"2024-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2214623724000176/pdfft?md5=d39e54ecec04fe73442e0286ba3b827b&pid=1-s2.0-S2214623724000176-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140764251","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":"Racial inequities and rare CFTR variants: Impact on cystic fibrosis diagnosis and treatment","authors":"Malinda Wu ,&nbsp;Jacob D. Davis ,&nbsp;Conan Zhao ,&nbsp;Tanicia Daley ,&nbsp;Kathryn E. Oliver","doi":"10.1016/j.jcte.2024.100344","DOIUrl":"10.1016/j.jcte.2024.100344","url":null,"abstract":"<div><p>Cystic fibrosis (CF) has been traditionally viewed as a disease that affects White individuals. However, CF occurs among all races, ethnicities, and geographic ancestries. The disorder results from mutations in the <em>CF transmembrane conductance regulator</em> (<em>CFTR</em>). Varying incidence of CF is reported among Black, Indigenous, and People of Color (BIPOC), who typically exhibit worse clinical outcomes. These populations are more likely to carry rare <em>CFTR</em> variants omitted from newborn screening panels, leading to disparities in care such as delayed diagnosis and treatment. In this study, we present a case-in-point describing an individual of Gambian descent identified with CF. Patient genotype includes a premature termination codon (PTC) (c.2353C&gt;T) and previously undescribed single nucleotide deletion (c.1970delG), arguing against effectiveness of currently available CFTR modulator-based interventions. Strategies for overcoming these two variants will likely include combinations of PTC suppressors, nonsense mediated decay inhibitors, and/or alternative approaches (e.g. gene therapy). Investigations such as the present study establish a foundation from which therapeutic treatments may be developed. Importantly, c.2353C&gt;T and c.1970delG were not detected in the patient by traditional <em>CFTR</em> screening panels, which include an implicit racial and ethnic diagnostic bias as these tests are comprised of mutations largely observed in people of European ancestry. We suggest that next-generation sequencing of <em>CFTR</em> should be utilized to confirm or exclude a CF diagnosis, in order to equitably serve BIPOC individuals. Additional epidemiologic data, basic science investigations, and translational work are imperative for improving understanding of disease prevalence and progression, <em>CFTR</em> variant frequency, genotype-phenotype correlation, pharmacologic responsiveness, and personalized medicine approaches for patients with African ancestry and other historically understudied geographic lineages.</p></div>","PeriodicalId":46328,"journal":{"name":"Journal of Clinical and Translational Endocrinology","volume":"36 ","pages":"Article 100344"},"PeriodicalIF":3.0,"publicationDate":"2024-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2214623724000152/pdfft?md5=5090e775b1523be2a90facba1ac9ddce&pid=1-s2.0-S2214623724000152-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140775798","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}