Clinical Medicine & Research最新文献

{"title":"Ketorolac and Predicted Severe Acute Pancreatitis: A Randomized, Controlled Clinical Trial.","authors":"Zahra Vahdat Shariatpanahi,&nbsp;Shaahin Shahbazi,&nbsp;Erfan Shahbazi","doi":"10.3121/cmr.2021.1663","DOIUrl":"https://doi.org/10.3121/cmr.2021.1663","url":null,"abstract":"<p><p><b>Objective:</b> We evaluated the effect of ketorolac on reducing the severity of acute pancreatitis.<b>Design and Setting:</b> Randomized clinical trial performed in a University hospital.<b>Participants:</b> There were 56 adult patients, with predicted severe acute pancreatitis, randomly divided into two groups.<b>Methods:</b> The patients in the study group received intravenous ketorolac, 10 mg, three times daily from the time of enrollment for a maximum of 5 days, as needed, along with standard medical treatment. Primary outcome measure was the change in the serum level of high sensitive C-reactive protein (hs-CRP). Patients were also followed up in terms of hospitalization duration, need for intensive care unit (ICU), organ failure development, persistent organ failure, pancreatic necrosis, nutritional assessment, and mortality. The study continued to gather clinical follow-up information up to 4 months.<b>Results:</b> Serum level of hs-CRP was significantly lower in the ketorolac group compared with the control group on days 3, 4, and 5. There were no significant differences in organ failure, pseudocyst formation, acute necrotic collection, mortality, and ICU transfer between groups. Days of hospitalization were significantly lower in the study group. The feeding start time was significantly shorter in the study group with no need for tube feeding in the ketorolac group. Frequency of NPO (not per oral) was significantly lower in the ketorolac group.<b>Conclusion:</b> The use of ketorolac may improve feeding outcomes and shorten length of hospitalization in predicted severe acute pancreatitis.</p>","PeriodicalId":47429,"journal":{"name":"Clinical Medicine & Research","volume":"20 2","pages":"74-80"},"PeriodicalIF":1.4,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9242735/pdf/0200074.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39796792","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":"Screening for Thyroid Disorders Among Resistant Hypertension Patients: Are We Doing Enough?","authors":"Nikos Pappan,&nbsp;Mian Tanveer Ud Din,&nbsp;Divya Venkat,&nbsp;Patrick Wedgeworth,&nbsp;Sheng Fu","doi":"10.3121/cmr.2021.1676","DOIUrl":"https://doi.org/10.3121/cmr.2021.1676","url":null,"abstract":"Objective: To perform a quality assurance study assessing if hypo- and hyperthyroidism are appropriately screened for in patients with resistant hypertension. Design: Data was collected from patients diagnosed with resistant hypertension, defined as being on four or more different classes of anti-hypertensive medications. These patients were filtered to determine if thyroid stimulating hormone (TSH) measurement occurred within 90 days of the addition of a fourth medication class. Setting: Two internal medicine residency clinics in Pittsburgh, PA. Participants: Patients were selected who had a diagnosis of hypertension and were seen in clinic between January 1, 2018 and December 23, 2020. Methods: A single center retrospective review was performed. Results: A total of 1,125 patients were identified as having resistant hypertension. Of these, only 74 patients were found to have a TSH measurement taken within 90 days of having a fourth medication class prescribed. Seven TSH values were found to be abnormal with one patient being diagnosed with hyperthyroidism, demonstrating a screening rate of 6.6%. There were statistically significant differences in age, body mass index, and diastolic blood pressure in those screened versus not. Conclusions: Thyroid disease is under-screened as an etiology for resistant hypertension, particularly given the ease of diagnosis and reversibility of these conditions.","PeriodicalId":47429,"journal":{"name":"Clinical Medicine & Research","volume":"20 2","pages":"70-73"},"PeriodicalIF":1.4,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9242733/pdf/0200070.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39796793","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":"Management of Osteoporosis and Spinal Fractures: Contemporary Guidelines and Evolving Paradigms","authors":"Nasvin Imamudeen, A. Basheer, A. Iqbal, Nihal Manjila, N. Haroon, S. Manjila","doi":"10.3121/cmr.2021.1612","DOIUrl":"https://doi.org/10.3121/cmr.2021.1612","url":null,"abstract":"Physicians involved in treating spine fractures secondary to osteopenia and osteoporosis should know the pathogenesis and current guidelines on managing the underlying diminished bone mineral density, as worldwide fracture prevention campaigns are trailing behind in meeting their goals. This is a narrative review exploring the various imaging and laboratory tests used to diagnose osteoporotic fractures and a comprehensive compilation of contemporary medical and surgical management. We have incorporated salient recommendations from the Endocrine Society, the American Association of Clinical Endocrinology (AACE), and the American Society for Bone and Mineral Research (ASBMR). The use of modern scoring systems such as Fracture Risk Assessment Tool (FRAX®) for evaluating fracture risk in osteoporosis with a 10-year probability of hip fracture and major fractures in the spine, forearm, hip, or shoulder is highlighted. This osteoporosis risk assessment tool can be easily incorporated into the preoperative bone health optimization strategies, especially before elective spine surgery in osteoporotic patients. The role of primary surgical intervention for vertebral compression fracture and secondary fracture prevention with pharmacological therapy is described, with randomized clinical trial-based wisdom on its timing and dosage, drug holiday, adverse effects, and relevant evidence-based literature. We also aim to present an evidence-based clinical management algorithm for treating osteoporotic vertebral body compression fractures, tumor-induced osteoporosis, or hardware stabilization in elderly trauma patients in the setting of their impaired bone health. The recent guidelines and recommendations on surgical intervention by various medical societies are covered, along with outcome studies that reveal the efficacy of cement augmentation of vertebral compression fractures via vertebroplasty and balloon kyphoplasty versus conservative medical management in the elderly population.","PeriodicalId":47429,"journal":{"name":"Clinical Medicine & Research","volume":"53 1","pages":"95 - 106"},"PeriodicalIF":1.4,"publicationDate":"2022-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90081024","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":"Primary Low Grade Follicular Lymphoma of the Conjunctivae Mimicking Nodular Anterior Scleritis: A Case Report","authors":"Hui Yin Goh, Che Mahiran Binti Che Daud, Chandramalar T. Santhirathelagan, Shamala Retnasabapathy","doi":"10.3121/cmr.2022.1674","DOIUrl":"https://doi.org/10.3121/cmr.2022.1674","url":null,"abstract":"Conjunctival lymphomas are rare entities and may present with non-specific ocular signs that resemble inflammation. They may mimic common ocular pathologies, leading to a delay in diagnosis and treatment. The treatment options of conjunctival lymphomas should be tailored to individuals due to their indolent nature compared to other adnexal lymphomas. Herein, the authors report a case of a primary follicular conjunctival lymphoma in a patient who presented with signs and symptoms of nodular anterior scleritis. The final histology of the conjunctiva lesion revealed primary follicular lymphoma. The patient was managed conservatively with active surveillance.","PeriodicalId":47429,"journal":{"name":"Clinical Medicine & Research","volume":"51 1","pages":"111 - 113"},"PeriodicalIF":1.4,"publicationDate":"2022-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90548838","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":"Determinants of Atrial Fibrillation Development among Patients undergoing Ibrutinib Therapy.","authors":"Adedayo A Onitilo,&nbsp;Tinuade O Piwuna,&nbsp;Nazmul Islam,&nbsp;Luis Furuya-Kanamori,&nbsp;Sanjay Kumar,&nbsp;Suhail A R Doi","doi":"10.3121/cmr.2021.1693","DOIUrl":"https://doi.org/10.3121/cmr.2021.1693","url":null,"abstract":"<p><p><b>Objective:</b> Within the last decade, the use of ibrutinib, a first-generation, non-selective, irreversible Burton's tyrosine kinase inhibitor for the treatment of hematological malignancies has proven highly effective in improving patient outcomes.<b>Background:</b> Ibrutinib has been associated with an increase in atrial fibrillation (AF). The predisposing factors are thought to be pre-existing cardiovascular risk factors, but these have not been directly evaluated.<b>Methods:</b> We conducted a nested case-control study, recruiting consecutive ibrutinib treated subjects to evaluate cardiovascular risk factors associated with the development of AF in patients diagnosed with hematological B-cell malignancies.<b>Results:</b> Of the 189 patients treated with ibrutinib and without AF at baseline, 54 (29%) developed AF. Cardiovascular risk factors associated with AF development were, older age, prior hypertension (HTN), history of heart failure (HF) and congenital heart disease. A patient with HF at baseline had a 1, 2, 6, and 12 month cumulative hazard of AF of 40%, 48%, 64%, and 71%, respectively. Patients with prior HTN without HF at baseline had a 1, 2, 6, and 12 month cumulative hazard of AF of 5%, 10%, 23%, and 31%, respectively while on ibrutinib therapy.<b>Conclusions:</b> The relationship between ibrutinib, cardiovascular comorbidities, and AF is through pre-existing cardiovascular disease. An individualized, multidisciplinary approach involving cardiologists should be considered when initiating ibrutinib, particularly when there is a history of HTN, HF or congenital heart disease. In such patients, there should be close cardiovascular monitoring and prompt intervention when AF develops to improve patient outcomes.</p>","PeriodicalId":47429,"journal":{"name":"Clinical Medicine & Research","volume":"20 1","pages":"16-22"},"PeriodicalIF":1.4,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9390851/pdf/0200016.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39814924","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":"Reasons for Suicide Attempts in South India during the COVID-19 Pandemic.","authors":"K Prabhakar,&nbsp;Anitha Aswathanarayana,&nbsp;K Hemanth Kumar Reddy","doi":"10.3121/cmr.2022.1704","DOIUrl":"https://doi.org/10.3121/cmr.2022.1704","url":null,"abstract":"<p><p><b>Objective:</b> By increasing the risk of isolation, fear, stigma, abuse, and economic fallout, COVID-19 has led to an increase in the risk of psychiatric disorders, chronic trauma, and stress. These factors eventually increase suicidality and suicidal behavior. This study intends to evaluate the reasons for suicide attempts due to the COVID-19 pandemic in the south Indian population.<b>Design:</b> Cross-sectional study<b>Setting:</b> The study was conducted in R. L. Jalappa Hospital and Research Centre, Kolar.<b>Participants:</b> This study was conducted on 91 patients admitted to the general medicine department for a suicide attempt because of the COVID 19 pandemic.<b>Methods:</b> A single examiner conducted a structured interview with a pretested questionnaire with each participant. Participants were asked to indicate the primary reason or motivation for their suicide attempt. Patients answered a set of questions regarding personal and family concerns (marginalization, fear and uncertainty, domestic abuse, loneliness, grief over loss of loved one) and work-related concerns (economic fallout, high-risk environment, shortage of personnel and personal protective equipment [PPE]). We employed mean and standard deviation to descriptively analyze quantitative variables. Categorical variables were expressed in terms of frequency and proportion. For non-normally-distributed quantitative parameters, medians and interquartile range (IQR) were compared across study groups using the Kruskal-Wallis test (> 2 groups). Data was analyzed using coGuide software, V.1.03.<b>Results:</b> The mean age of participants was 29.47±11.06 years, the majority (43.63%) of which were aged between 21 to 40 years of age. The majority (72.53%) of participants reported personal and family concerns as reasons/motivation for suicide, whereas only 17.58% reported work-related concerns. There was a statistically significant difference across reason or motivation for suicide with age (in years) and gender (<i>P</i> value < 0.001).<b>Conclusion:</b> The study concluded that more than half of the patients indicated personal and family concerns as the major reason for suicide attempts during the pandemic. It is vital to emphasize the mental health well-being of the population and take proactive steps to minimize its detrimental effects during the COVID-19 pandemic.</p>","PeriodicalId":47429,"journal":{"name":"Clinical Medicine & Research","volume":"20 1","pages":"34-39"},"PeriodicalIF":1.4,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9390856/pdf/0200034.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39898186","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":"Russian Physicians Burnout during the COVID-19 Pandemic: A Cross-Sectional Survey Study.","authors":"Vladimir I Rozhdestvenskiy,&nbsp;Vlada V Titova,&nbsp;Irina A Gorkovaya,&nbsp;Dmitry O Ivanov,&nbsp;Yuri S Aleksandrovich","doi":"10.3121/cmr.2022.1642","DOIUrl":"https://doi.org/10.3121/cmr.2022.1642","url":null,"abstract":"<p><p><b>Objective:</b> To study burnout of Russian physicians in the conditions of COVID-19 pandemic and how their work with coronavirus-infected patients influenced it. According to a three-factor model of burnout developed by Maslach and Jackson, this syndrome includes emotional exhaustion, depersonalization, and reduction of personal accomplishment.<b>Design:</b> A cross-sectional survey study.<b>Setting:</b> Large medical practice.<b>Participants:</b> Physicians of different specialties.<b>Methods:</b> Data collection was conducted from June 23 to July 12, 2020. We developed a Google form including a questionnaire and psychological inventories and placed it in a medical portal. Maslach Burnout Inventory - Human Services Survey for Medical Personnel was used to study burnout; the Hospital Anxiety and Depression Scale was used to determine anxiety and depression.<b>Results:</b> Of all the physicians who took part in the study (N = 599), 31.2 % worked with coronavirus-infected patients. Of the medical personnel who treated COVID-19 patients, 63.6% noted increased workload during the pandemic. Compared to other physicians, they more often had a high degree of emotional exhaustion (43.3 % vs 33.0 %, φ* = 2.404, <i>P</i> ≤ 0.01) and depersonalization (41.7 % vs 34, 0%, φ* = 1.803, <i>P</i> ≤ 0.05). An overwhelming majority of physicians, without any dependence on work with infected patients, had an absence of anxiety and depression. The identified interrelations between the symptoms of burnout, anxiety, depression; age and career stage in medical personnel were identical, except for weak correlations between age and emotional exhaustion (rs = -0.097, <i>P</i> ≤ 0.05), as well as career stage and personal accomplishment (rs = 0.102, <i>P</i> ≤ 0.05) in those physicians who worked with COVID-19 patients. The structure of burnout was identical in all physicians and did not depend on interaction with the infected patients.<b>Conclusion:</b> Public health authorities should reduce the workload on physicians involved in treating infected patients against the backdrop of the pandemic. Psychotherapeutic measures focused on preventing burnout should reduce its number among physicians interacting with patients infected with the coronavirus.</p>","PeriodicalId":47429,"journal":{"name":"Clinical Medicine & Research","volume":"20 1","pages":"23-33"},"PeriodicalIF":1.4,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9390855/pdf/0200023.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39898187","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":"Implementation of Process Improvements to Facilitate Cardiac CT Re-Credentialing in a Rural Healthcare System.","authors":"Bilal Unar,&nbsp;Stacey C Rolak,&nbsp;Chuyang Zhong,&nbsp;Roxann Rokey","doi":"10.3121/cmr.2021.1650","DOIUrl":"https://doi.org/10.3121/cmr.2021.1650","url":null,"abstract":"<p><p><b>Background:</b> Because rural providers may experience barriers in achieving the necessary components to successfully re-credential in cardiac computed tomography (Cardiac CT), we evaluated the current system for re-credentialing at our organization and implemented processes to facilitate Cardiac CT re-credentialing for our providers.<b>Methods:</b> Institutional opportunities for Cardiac CT quality assurance (QA) conference attendance, Cardiac CT imaging evaluation, and Cardiac CT continuing medical education (CME) acquisition were assessed in 2009 and 2013. Process improvement strategies were implemented in 2014 including adding electronic media hosting sites, a \"hands-on\" image interpretation course, and more options for CME acquisition. Pre- and post-educational improvements were evaluated over a 10-year period. The number and type of events hosted, attendees, image review opportunities, and CME credits awarded were assessed and compared at the provider level.<b>Results:</b> Attendance at Cardiac CT QA conferences increased substantially following implemented changes despite fewer certified Cardiac CT providers. Electronic attendance accounted for 26% of this increased attendance, while the \"hands on\" course provided 43 images for review per year. The number of Cardiac CT CME credits awarded increased substantially, paralleling increased QA and \"hands-on\" attendance.<b>Conclusion:</b> In rural healthcare systems, institutional strategies can increase provider access to components necessary for Cardiac CT level II re-credentialing. In the COVID-19 era, rural and urban health organizations may find considerable provider benefit and engagement by using similar process improvement methods to help providers meet local and national requirements for certification.</p>","PeriodicalId":47429,"journal":{"name":"Clinical Medicine & Research","volume":"20 1","pages":"9-15"},"PeriodicalIF":1.4,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9390853/pdf/0200009.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39814925","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":"Understanding Patient Preference of Providers to Treat Foot and Ankle Disorders.","authors":"Jonathan Kraus,&nbsp;Alexander Nielsen,&nbsp;Brian Law,&nbsp;Glenn Shi,&nbsp;Gunnar Whealy","doi":"10.3121/cmr.2021.1631","DOIUrl":"https://doi.org/10.3121/cmr.2021.1631","url":null,"abstract":"<p><p><b>Objective:</b> The purpose of this study is to evaluate patients' knowledge of the professional training between doctors of podiatric medicine (DPM) and orthopedic surgery doctors (MD or DO), patients' confidence in understanding these differences, and factors that are important to patients when selecting a provider.<b>Design:</b> A 28-question survey was administered to new patients who were referred to the foot and ankle service in an orthopedic department. Survey questions included data on patient demographics, patient opinion, and knowledge of differences between podiatrists and orthopedic surgeons.<b>Setting:</b> Patient surveys were administered at Froedtert Memorial Lutheran Hospital in Wauwatosa, Wisconsin USA and Mayo Clinic in Jacksonville, Florida USA.<b>Participants:</b> 186 patients completed the survey.<b>Methods:</b> Study population characteristics and survey results were analyzed with variance (ANOVA), Fisher's Exact test, binomial tests, and chi-square tests.<b>Results:</b> Of the 186 patients who completed the entire survey, 108 chose \"orthopedic surgeon\" as their provider of preference for any foot or ankle injury. Patients preferred an orthopedic surgeon over a DPM for ankle (65.7% vs. 9.6%, <i>P</i><0.01) and knee injuries (86.0% vs. 5.0%, <i>P</i><0.01), while they preferred a DPM for toe pain (29.4% vs. 42.2%, <i>P</i><0.03). 80.8% of patients thought orthopaedic surgeons and podiatrists undergo the same professional training.<b>Conclusions:</b> Patients have poor understanding of the different provider training between a DPM and orthopedic surgeon. Patients showed a preference based on anatomic location with podiatrist favored for conditions affecting the toes. Those patients that demonstrate a higher level of knowledge of the specialties were more likely to prefer an orthopaedic surgeon. Other factors, such as physician interpersonal skills and provider availability, may be more important for patients than training backgrounds.</p>","PeriodicalId":47429,"journal":{"name":"Clinical Medicine & Research","volume":"20 1","pages":"40-45"},"PeriodicalIF":1.4,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9390852/pdf/0200040.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39814926","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":"Pancreatic Insufficiency in a Child with p.Gly542* and c.2657+5G>A Heterozygote CFTR: A Case Report.","authors":"Fernanda Dos Anjos,&nbsp;Jonatha Wruck,&nbsp;Thiago Inácio Teixeira do Carmo,&nbsp;Victor Emanuel Miranda Soares,&nbsp;Débora Tavares de Resende E Silva,&nbsp;Margarete Dulce Bagatini,&nbsp;Sarah Franco Vieira de Oliveira Maciel","doi":"10.3121/cmr.2022.1618","DOIUrl":"https://doi.org/10.3121/cmr.2022.1618","url":null,"abstract":"<p><p>Cystic fibrosis is a monogenic and autosomal recessive disease. It is caused by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator gene responsible for encoding the CFTR protein. Involvement of the gastrointestinal and respiratory systems is the main clinical manifestation. In this case, we report a heterozygous <i>CFTR</i> patient harboring class I (p.Gly542*) and class V (c.2657+5G>A) mutations. The importance of this case report lies in the clinical features because the patient, aged 3 years, presented with early exocrine pancreatic insufficiency, which can be considered atypical, as most individuals with this genotype are pancreatic sufficient or develop pancreatic insufficiency later in life. This report aims at presenting the tests requested that contributed to the patient's diagnosis, as well as at understanding the association between these mutations and their phenotypic presentation. Interpretation of the genotype-phenotype relationship represents a challenge, as genetic analysis alone is not sufficient to clearly predict severity of the disease. This is because the significant phenotypic heterogeneity existing among patients with the same genotype may exert socioeconomic and sociocultural influences, or by the action of <i>CFTR</i> modifiers, such as environmental and modifying genes, which can alter the protein's function and exert an impact on the individual's phenotype.</p>","PeriodicalId":47429,"journal":{"name":"Clinical Medicine & Research","volume":"20 1","pages":"46-51"},"PeriodicalIF":1.4,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9390849/pdf/0200046.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39898164","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}