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PROVIDER: S-EPMC2134823 | biostudies-literature | 1997 Jan
REPOSITORIES: biostudies-literature
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Project description:Biallelic variants in the UTRN gene cause a novel form of multiple congenital arthrogryposis
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Project description:This paper introduces a new cross-platform programming framework for developing quantum-accelerated scientific computing applications and executing them on most of today’s cloud-based quantum computers and simulators. It makes use of C++ template meta-programming techniques to implement quantum algorithms as generic, platform-independent expressions, which get automatically synthesized into device-specific compute kernels upon execution. Our software framework supports concurrent and asynchronous execution of multiple quantum kernels via a CUDA-inspired stream concept.
| S-EPMC7304771 | biostudies-literature
Project description:Sarcoidosis is a granulomatous disorder of multiple organs, with lungs and lymphatic systems being the most frequently affected sites of the body. It was first reported in 1877 and has continued to engross both clinicians and scientists since that time. Because sarcoidosis being a diagnosis of exclusion, it demands the physician to rule out all the possible diagnosis. Most of the patients remain asymptomatic and this makes the disease remain unnoticed for a prolonged period. Later after years, the disease could be diagnosed after witnessing the patient being symptomatic or suffering from organ failures. It could affect middle aged people of any sexes, often its clinical features correlate with tuberculosis. On immunological and histopathological examination, it reveals noncaseating granuloma in simple terms. Glucocorticoids remain the standard drug now and then. Further research has to be done to know the exact pathogenesis, early detection and betterment in treatment plan of sarcoidosis. The current review article gives a brief knowledge about etiopathogenesis, Clinical features, upgraded diagnostic methods such as biomarkers detection and the organized treatment plan to treat sarcoidosis.
| S-EPMC9364657 | biostudies-literature
Project description:E-JOURNAL LINKED ABSTRACT URL http://www.current-oncology.com/index.php/oncology/article/view/840/ Pseudocirrhosis is a rare form of liver disease that causes clinical symptoms and shows radiographic signs of cirrhosis, but that has histologic features suggesting a distinct pathologic process. In the setting of cancer, hepatic metastases and systemic chemotherapy are suspected causes of pseudocirrhosis. We present the case of a 49-year-old woman with medullary thyroid carcinoma metastatic to the liver who developed pseudocirrhosis. The patient was initially enrolled in a phase i clinical trial of 5-fluorouracil, leucovorin, and oxaliplatin (folfox) in combination with sunitinib (NCT00599924). After this patient’s liver metastases regressed measurably, she was switched to sunitinib maintenance. After 4 months of combination therapy with folfox–sunitinib and 15 months of sunitinib maintenance, she developed abdominal bloating, early satiety, and right upper quadrant pain that increased with inspiration. Computed tomography of the abdomen revealed cirrhotic morphology changes in the liver, including the appearance of a nodular surface and capsular retraction. The patient had no risk factors for cirrhosis and laboratory testing for causes of liver disease were normal or negative. Core-needle liver biopsy demonstrated sheets and nests of epithelioid and spindle cells resembling the primary tumor; septal fibrosis and regenerative nodules typical of cirrhosis were not observed. The background hepatic plate architecture was intact. Laboratory studies showed increased aminotransferases, alkaline phosphatase, and international normalized ratio, and decreased albumin. Portal hypertension, esophageal varices, portal hypertensive gastropathy, and hepatic hydrothorax developed as a result of advanced liver disease. Because of disease progression, sunitinib was discontinued, and the patient was managed with sorafenib. Pseudocirrhosis has often been attributed to chemotherapeutic agents, particularly in the context of metastatic breast cancer. The toxicity profiles of folfox and sunitinib include hepatic steatosis and other forms of hepatotoxicity, but cirrhotic-like disease has not been reported. Considering the transformation of discrete hepatic metastases into a diffuse carcinomatous infiltrate and the unrelated toxicities of folfox and sunitinib, we diagnosed this patient with carcinomatous pseudocirrhosis secondary to metastatic medullary thyroid carcinoma. We discuss the diagnosis of pseudocirrhosis in this case and review the literature regarding pseudocirrhosis in cancer.
| S-EPMC3267587 | biostudies-literature
Project description:Venous thromboembolism (VTE) and atrial fibrillation (AF) is a major burden on the health care system. The average occurrence of venous thromboembolism annually is around 108 per 100,000 person-year. DOACs have transformed treatment of coagulation disorder, and now, it is the leading treatment for stroke prevention in AF and VTE prophylaxis and treatment. For more many years, oral vitamin K antagonists (VKAs) were the drug of choice in managing VTE. VKAs treatment is safe and effective if therapeutic international normalized ratio (INR) maintained on the target. However, achieving a stable, therapeutic international normalized ratio (INR) can be difficult and challenging in the context of drug and food interactions and liver disorder, resulting in undertreatment which increases the risk of thromboembolism or overtreatment which might cause bleeding. Herein, we provide an overview of DOACs indications, use in specific comorbidities, monitoring parameters, perioperative management, and reversal agents.
| S-EPMC9638657 | biostudies-literature
Project description:ObjectiveThis study measured the effect the experience of house calls might have on third-year medical students.MethodsStudents were surveyed via an anonymous online survey at the start of their geriatrics clerkship, again at the end of their clerkship, and once more three months later. Empathy was measured using the Jefferson Scale of Empathy - Student version (JSE) and student attitudes towards the geriatrics population was measured using the UCLA Geriatrics Attitudes Scale (GAS). Data were analyzed using SPSS version 27.0.ResultsNo changes in empathy were found when comparing students who completed house calls versus those who did not. However, students who trained in office settings were noted to have higher JSE scores at the three-month follow-up survey, students who worked in hospital settings had higher JSE scores at the completion of the clerkship, and student who worked in assisted living facilities had higher GAS scores at the completion of the clerkship.ConclusionsTeaching students ways to improve empathy can be challenging. The setting in which a student trains may be an area of focus for improving empathy among trainees and should be researched further.
| S-EPMC10192808 | biostudies-literature
Project description:Alcohol-related hepatitis (ARH) is a unique type of alcohol-associated liver disease characterized by acute liver inflammation caused by significant alcohol use. It ranges in severity from mild to severe and carries significant morbidity and mortality. The refinement of scoring systems has enhanced prognostication and guidance of clinical decision-making in the treatment of this complex disease. Although treatment focuses on supportive care, steroids have shown benefit in select circumstances. There has been a recent interest in this disease process, as coronavirus disease 2019 pandemic led to substantial rise in cases. Although much is known regarding the pathogenesis, prognosis remains grim due to limited treatment options. This article summarizes the epidemiology, genetics, pathogenesis, diagnosis and treatment of ARH.
| S-EPMC10198060 | biostudies-literature
Project description:BackgroundThe hip resurfacing concept was developed for young and active patients, especially for femoral bone stock preservation. However, concerns about metal-on-metal bearings with adverse reactions to metal debris have led to a drop off in hip-resurfacing procedures.Questions/purposesThe goal of this review is to evaluate our current knowledge of survivorship of second-generation hip resurfacing devices and elaborate international perspectives for product improvement.MethodsA comprehensive literature search provided information on national joint arthroplasty registers worldwide with a minimum of 3000 reported hip resurfacings. It culminated in the analysis of six registers.ResultsLong-term data showed that available hip resurfacing device survivorship ranged from 95 to 99.7% with 10 years of follow-up, in selected patient populations. The criteria for success were well known, male gender, good bone quality, head component size greater than 48 mm, and cup inclination less than 45°. On the other hand, the recent recall of some hip-resurfacing devices has resulted in huge medico-legal problems and has discredited all implants. It has brought about the recent evolution of hip resurfacing. Femoral fixation is now available for cemented and cementless surfaces. Bearings are still always metal-on-metal, but new types have come on board. Newer designs suggest that ceramic-on-ceramic, cross-linked polyethylene, and oxinium may be applied in this configuration.ConclusionsIn 2015, the evolution of hip resurfacing is ongoing in terms of implant design, alternative bearings, and implant fixation with hopes of improving survivorship.
| S-EPMC5264568 | biostudies-literature
Project description:BackgroundA total proctocolectomy followed by ileal pouch-anal anastomosis is a potentially curative surgery for ulcerative colitis or familial adenomatous polyposis. About 5-35% of patients with ulcerative colitis and 0-11% of patients with familial adenomatous polyposis develop subsequent inflammation of the ileal pouch termed pouchitis.AimTo provide a comprehensive analysis of the research studying the possible pathogenesis of pouchitis. The goals were to identify promising areas of investigation, to help focus clinicians, researchers and patients on how to better understand and then potentially manage ileal pouchitis, and to provide avenues for future research investigations.MethodsThis review examined manuscripts from 1981 to 2015 that discussed and/or proposed hypotheses with supportive evidence for the potential underlying pathogenic mechanism for pouchitis.ResultsThe pathogenesis of pouchitis is not definitively understood, but various hypotheses have been proposed, including (i) recurrence of ulcerative colitis, (ii) dysbiosis of the ileal pouch microbiota, (iii) deprivation of nutritional short-chain fatty acids, (iv) mucosal ischaemia and oxygen-free radical injury, (v) host genetic susceptibility and (vi) immune dysregulation. However, none of these alone are able to fully explain pouchitis pathogenesis.ConclusionsPouchitis, similar to inflammatory bowel disease, is a complex disorder that is not caused by any one single factor. More likely, pouchitis occurs through a combination of both dysregulated host inflammatory mechanisms and interaction with luminal microbiota.
| S-EPMC5785099 | biostudies-literature