Notes

Exome sequencing determines procollagen-lysine 2-oxoglutarate 5-dioxygenase Two variations inside major genetic and also teenager glaucoma.
The most common reason for refusal was concern about the amount of blood drawn (19.5%). The next most common reasons for refusal to participate included concerns about genetic testing (14.6%) and mistrust of research (12.2%). Across study sites, significantly more patients enrolled in the inpatient than outpatient setting (P less then .001). Significantly more women and younger individuals declined participation due to concerns about genetic testing and too little compensation (P less then .05). Conclusions Collection of blood samples and concerns about genetic testing are obstacles for the recruitment of African Americans to pharmacogenomics studies. Efforts to overcome these barriers to participation are needed to improve representation of minorities in pharmacogenomic research. Enrolling participants from inpatient populations may be a solution to bolster recruitment efforts. Copyright © 2020, Ethnicity & Disease, Inc.Objective To better understand African American and Hispanic perspectives on the potential benefits of precision medicine, along with the potential barriers that may prevent precision medicine from being equally beneficial to all. We also sought to identify if there were differences between African American and Hispanic perspectives. Design Six semi-structured focus groups were conducted between May 2017 and February 2018 to identify benefits and barriers to precision medicine. Three groups occurred in Nashville, TN with African American participants and three groups occurred in Miami, FL with Hispanic participants. Setting At community-based and university sites convenient to community partners and participants. Participants A total of 55 individuals participated (27 in Nashville, 28 in Miami). The majority of participants were women (76.5%) and the mean age of participants was 56.2 years old. Results Both African Americans and Hispanics believed precision medicine has the potential to improve medicine and health outcomes by individualizing care and decreasing medical uncertainty. However, both groups were concerned that inadequacies in health care institutions and socioeconomic barriers would prevent their communities from receiving the full benefits of precision medicine. African Americans were also concerned that the genetic and non-genetic personal information revealed through precision medicine would make African Americans further vulnerable to provider racism and discrimination in and outside of health care. Conclusions While these groups believed precision medicine might yield benefits for health outcomes, they are also skeptical about whether African Americans and Hispanics would actually benefit from precision medicine given current structural limitations and disparities in health care access and quality. Copyright © 2020, Ethnicity & Disease, Inc.Background In order for precision health to address health disparities, engagement of diverse racial/ethnic minority communities and the physicians that serve them is critical. Methods A community-based participatory research approach with mixed methods was employed to gain a deeper understanding of precision health research and practice among American Indian, African American, Latino, Chinese, and Vietnamese groups and physicians that serve these communities. A survey assessed demographics and opinions of precision health, genetic testing, and precision health research. Focus groups (n=12) with each racial/ethnic minority group and physicians further explored attitudes about these topics. Results One hundred community members (American Indian [n=17], African American [n=13], Chinese [n=17], Latino [n=27], and Vietnamese [n=26]) and 14 physicians completed the survey and participated in the focus groups. Familiarity with precision health was low among community members and high among physicians. Most groups were enthusiastic about the approach, especially if it considered influences on health in addition to genes (eg, environmental, behavioral, social factors). Significant concerns were expressed by African American and American Indian participants about precision health practice and research based on past abuses in biomedical research. In addition, physician and community members shared concerns such as security and confidentiality of genetic information, cost and affordability of genetic tests and precision medicine, discrimination and disparities, distrust of medical and research and pharmaceutical institutions, language barriers, and physician's specialty. Conclusions Engagement of racial/ethnic minority communities and the providers who serve them is important for advancing a precision health approach to addressing health disparities. Copyright © 2020, Ethnicity & Disease, Inc.The NIMHD Transdisciplinary Collaborative Centers for Health Disparities Research Focused on Precision Medicine (PM TCCs) comprise regional coalitions of research institutions and consortium partners focused on priority research topics in minority health and health disparities. In April 2016, NIMHD, in partnership with the National Human Genome Research Institute (NHGRI) and the National Cancer Institute (NCI), launched the PM TCC program to fund five centers across the United States to stimulate health disparities research with an emphasis on precision medicine to address one or more documented health disparities. The programs draw on expertise in genomics and other 'omics, physiology and medicine, population health disparities, behavioral and social sciences, and the science of translation, implementation and dissemination. The TCC program's overarching goal is to develop and disseminate effective interventions that can be implemented in real-world settings with the goal of promoting health equity and reducing health disparities. This special issue of Ethnicity & Disease is dedicated to cutting-edge research conducted by the five PM TCCs at the intersection between precision medicine and health disparities. Articles in this issue will enhance knowledge in a variety of research topics from perspectives on precision medicine among different health disparity populations to methods for reducing inequities in protocols, interventions, and health information and further efforts to promote inclusion of all populations, especially the most vulnerable. Copyright © 2020, Ethnicity & Disease, Inc.Background  Posterior inferior cerebellar artery (PICA) is a tortuous, variable, and uncommon site for aneurysms. Surgical management of PICA aneurysms involves careful selection of approach based on the location of the aneurysm and meticulous dissection of the neurovascular structures and perforators. Materials and Methods  We did a retrospective review of all the PICA aneurysms operated at our institute in the past 10 years along with the site, presentation, and approach used for the same. Preoperative World Federation of Neurosurgical Society scores and follow-up modified Rankin scores (mRS) were also evaluated. During the same period, data for intervention cases of PICA aneurysm were also collected with follow-ups for a comparative analysis. Results  A total of 20 patients with 21 PICA aneurysms were reviewed. All the reviewed cases presented with subarachnoid hemorrhage, and the most common location was the lateral medullary segment and vertebral artery (VA)-PICA junction. Midline approaches were used for distal PICA cases, with far-lateral approach reserved for anterior medullary/VA-PICA junction. No lower cranial nerve palsies were recorded at follow-up. Four cases needed cerebrospinal fluid diversion and two developed cerebellar infarcts. All cases were mRS 0 to 2 at follow-up. Conclusion  Our series compares well with some of the larger surgical series of PICA aneurysms. This may be due to early referral patterns and early surgery ( less then 24 hours) policy at our institution. Anatomical knowledge of PICA anatomy and sound perioperative management are keys to good outcomes in these cases.Alport's syndrome (hereditary nephritis) is a familial disorder, which usually affects young males with clinical presentation of hematuric and glomerular disease. We report a rare case of Alport's syndrome in a 16-year-old male with typical extrarenal manifestations and renal biopsy findings with crescents. Copyright © 2020 Indian Journal of Nephrology.The association between amyloidosis and collagen vascular diseases, such as rheumatoid arthritis (RA) is well-documented. Amyloid goiter is an extremely rare pathologic condition caused by a massive amyloid infiltration of the thyroid tissue. Our patient had been diagnosed with RA 20 years ago and was on hemodialysis for 7 years. read more He was assessed for decreased appetite, dysphagia, and nausea during the hemodialysis. On physical examination, the thyroid was diffusely enlarged with multiple nodules. He was biochemically euthyroid. Ultrasound of the thyroid gland showed multinodular goiter. A total thyroidectomy was performed. Histopathological examination showed dilated follicles surrounded by abundant homogeneous substance that stained positive with Congo red. The patient was reported as amyloid goiter. Complaints of the patient improved after the surgery. In the literature, amyloid goiter with RA in a hemodialysis patient is very rare. Amyloid goiter should be considered if there is a rapid thyromegaly causing pressure symptoms in the background of any disease with chronic inflammation. Copyright © 2020 Indian Journal of Nephrology.A 28-year-old male, 3 years post renal transplant with stable graft function, presented with vomiting for 2 days. He had graft dysfunction and graft biopsy done revealed acute cell - mediated rejection BANFF-IA. After receiving glucocorticoids for rejection, he developed severe enterocolitis and impending respiratory failure. Chest X-ray and computed tomography of the chest revealed miliary mottling. Evaluation showed presence of filariform larvae of Strongyloides stercoralis in the stool and sputum. A diagnosis of Strongyloides Hyperinfection Syndrome (SHS) was made. After a prolonged course of treatment with noninvasive ventilation, broad-spectrum antimicrobials, parenteral ivermectin and oral albendazole therapy, he eventually recovered. This case report is to highlight that Strongyloides Hyperinfection Syndrome should also be considered in the differential in any immunocompromised patient presenting with miliary mottling in imaging. Copyright © 2020 Indian Journal of Nephrology.Membranous nephropathy is known to be associated with number of autoimmune diseases. Occurrence of PLA2R positive membranous nephropathy with sjogren's syndrome and chronic inflammatory demyelinating neuropathy (CIDP) is quite rare. Role of PLA2R antigen in autoimmune diseases like sjogren's syndrome and CIDP is largely unknown. Choice and initiation of immunosuppression if required may also be governed by the presence of other autoimmune diseases along with PLA2R positive membranous nephropathy. Copyright © 2020 Indian Journal of Nephrology.Acquired pure red cell aplasia (PRCA) following use of recombinant erythropoietin (rEPO) is distinctly rare and sporadically reported in the literature. We discuss a case of PRCA following the usage of rEPO (darbepoetin-α) during the management of anemia of chronic kidney disease in an elderly male subject with review of literature and a brief insight into proposed pathophysiologic mechanism, diagnosis, and management. Copyright © 2020 Indian Journal of Nephrology.
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