Browsing by Subject "Etiology"
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Item Epidemiologic Insights into Stone Disease as a Systemic Disorder(AIP Publishing, 2007-04-05) Curhan, Gary C.; Medicine, School of MedicineExamining the epidemiology of stone disease can provide insight into etiology. There is a growing body of evidence that stone disease is not simply a disorder of the kidney. In fact, nephrolithiasis is clearly a systemic disorder. Conditions associated with stone disease include the classic ones such as inflammatory bowel disease and primary hyperparathyroidism. More recent studies have demonstrated strong associations with obesity, gout, diabetes and hypertension. Future studies will help uncover the underlying common pathophysiologic abnormalities.Item From bedside to genetic analysis: New insights into pathophysiology of melanoma, basal cell carcinoma, and other cancers(Wiley, 2024) Zemtsov, Alexander; Dermatology, School of MedicineObjective: Patients with myotonic muscular dystrophy (MMD) were observed to have numerous basal cell carcinoma (BCC) and abnormal dysplastic nevi (DN) on non-sun exposed skin. Simultaneously a large study published in the Journal of American Medical Association (JAMA) illustrated that patients with MMD have "overall" an increased risk for cancer development. Based on these findings, this author in 2010 postulated that dysregulation of RNA binding proteins (RBP), responsible for clinical manifestations of MMD, is also responsible for the development of BCC and melanoma. Methods: To report new research elucidating the etiology of melanoma, BCC, MMD-induced cancers, and potentially other environmentally induced malignancies. Results: Dysregulation of RBP induces aberrant mRNA splicing; recent data indicates that abnormal mRNA splicing not just plays a key role in the pathogenesis of melanoma but is a hallmark of essentially all human malignancies. Conclusion: The author's hypothesis is that ultraviolet (UV) radiation induces DNA damage in intronic regions of a variety of genes. Furthermore, these UV-induced abnormal DNA dimers, repeats and mutations interfere with normal mRNA splicing thus producing abnormal proteins. These abnormal proteins in turn activate oncogenic pathways such as hedgehog, MAP kinase, and WNT.Item Hidradenitis Suppurativa: Molecular Etiology, Pathophysiology, and Management-A Systematic Review(MDPI, 2023-05-17) Diaz, Michael Joseph; Aflatooni, Shaliz; Abdi, Parsa; Li, Rina; Robert Anthony, Michelle; Neelam, Sphurti; Farkouh, Chris; Tran, Jasmine Thuy; Svoboda, Steven; Forouzandeh, Mahtab; Valdes Rodriguez, Rodrigo H.; Medicine, School of MedicineHidradenitis suppurativa is a chronic inflammatory skin condition that affects the hair follicles in areas of the body with apocrine glands. The condition is characterized by recurrent, painful nodules, abscesses, and draining sinuses that can lead to scarring and disfigurement. In this present study, we provide a focused evaluation of recent developments in hidradenitis suppurativa research, including novel therapeutics and promising biomarkers that may facilitate clinical diagnosis and treatment. We conducted a systematic review of controlled trials, randomized controlled trials, meta-analyses, case reports, and Cochrane Review articles in accordance with the PRISMA guidelines. The Cochrane Library, PubMed, EMBASE, and Epistemonikos databases were queried via Title/Abstract screen. Eligibility criteria included the following: (1) has a primary focus on hidradenitis suppurativa, (2) includes measurable outcomes data with robust comparators, (3) details the sample population, (4) English language, and (5) archived as full-text journal articles. A total of 42 eligible articles were selected for review. Qualitative evaluation identified numerous developments in our understanding of the disease's multiple potential etiologies, pathophysiology, and treatment options. It is important for individuals with hidradenitis suppurativa to work closely with a healthcare provider to develop a comprehensive treatment plan that addresses their individual needs and goals. To meet this objective, providers must keep current with developments in the genetic, immunological, microbiological, and environmental factors contributing to the disease's development and progression.Item Long non-coding RNAs in liver diseases: Focusing on nonalcoholic fatty liver disease, alcohol-related liver disease, and cholestatic liver disease(The Korean Association for the Study of the Liver, 2020-10) Han, Sen; Zhang, Ting; Kusumanchi, Praveen; Huda, Nazmul; Jiang, Yanchao; Yang, Zhihong; Liangpunsakul, Suthat; Medicine, School of MedicineLong non-coding RNAs (lncRNAs), a class of transcribed RNA molecules with the lengths exceeding 200 nucleotides, are not translated into protein. They can modulate protein-coding genes by controlling transcriptional and posttranscriptional processes. The dysregulation of lncRNAs has been related to various pathological disorders. In this review, we summarized the current knowledge of lncRNAs and their implications in the pathogenesis of three common liver diseases: nonalcoholic fatty liver disease, alcohol-related liver disease, and cholestatic liver disease. Future studies to further define the role of lncRNAs and their mechanisms in various types of liver diseases should be explored. An improved understanding from these studies will provide us a useful perspective leading to mechanism-based intervention by targeting specific lncRNAs for the treatment of liver diseases.Item The Relationship Between Pre-existing Diabetes Mellitus and the Severity of Acute Pancreatitis: Report From a Large International Registry(Elsevier, 2022) Paragomi, Pedram; Papachristou, Georgios I.; Jeong, Kwonho; Hinton, Alice; Pothoulakis, Ioannis; Talukdar, Rupjyoti; Kochhar, Rakesh; Goenka, Mahesh K.; Gulla, Aiste; Gonzalez, Jose A.; Singh, Vikesh K.; Bogado, Miguel Ferreira; Stevens, Tyler; Barbu, Sorin T.; Nawaz, Haq; Gutierrez, Silvia C.; Zarnescu, Narcis; Archibugi, Livia; Easler, Jeffrey J.; Triantafyllou, Konstantinos; Peláez-Luna, Mario; Thakkar, Shyam; Ocampo, Carlos; de-Madaria, Enrique; Cote, Gregory A.; Wu, Bechien U.; Lee, Peter J.; Hart, Phil A.; Conwell, Darwin L.; Toledo, Frederico G. S.; Yadav, Dhiraj; Medicine, School of MedicineBackground/objectives: The relationship between pre-existing diabetes mellitus (DM) and acute pancreatitis (AP) severity has not been established. We assessed the impact of pre-existing DM on AP severity in an international, prospectively ascertained registry. Methods: APPRENTICE registry prospectively enrolled 1543 AP patients from 22 centers across 4 continents (8 US, 6 Europe, 5 Latin America, 3 India) between 2015 and 2018, and collected detailed clinical information. Pre-existing DM was defined a diagnosis of DM prior to AP admission. The primary outcome was AP severity defined by the Revised Atlanta Classification (RAC). Secondary outcomes were development of systemic inflammatory response syndrome (SIRS) or intensive care unit (ICU) admission. Results: Pre-existing DM was present in 270 (17.5%) AP patients, of whom 252 (93.3%) had type 2 DM. Patients with pre-existing DM were significantly (p < 0.05) older (55.8 ± 16 vs. 48.3 ± 18.7 years), more likely to be overweight (BMI 29.5 ± 7 vs. 27.2 ± 6.2), have hypertriglyceridemia as the etiology (15% vs. 2%) and prior AP (33 vs. 24%). Mild, moderate, and severe AP were noted in 66%, 23%, and 11% of patients, respectively. On multivariable analysis, pre-existing DM did not significantly impact AP severity assessed by the RAC (moderate-severe vs. mild AP, OR = 0.86, 95% CI 0.63-1.18; severe vs. mild-moderate AP, OR = 1.05, 95% CI, 0.67-1.63), development of SIRS, or the need for ICU admission. No interaction was noted between DM status and continent. Conclusion: About one in 5 patients with AP have pre-existing DM. Once confounding risk factors are considered, pre-existing DM per se is not a risk factor for severe AP.