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Journal of Immigrant and Minority Health - COVID-19 has disproportionally affected underrepresented minorities (URM) and low-income immigrants in the United States. The aim of the study is to...  相似文献   
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Abstract

Oocyte maturation defect is a challenging situation in the management of infertility, the etiology may be related to endocrine causes, protocols used in ovarian stimulation, oocyte intrinsic defects or procedures in embryology laboratory. We report three Mexican females in treatment for primary infertility with non-mature oocytes after ovary stimulation and oocyte capture in whom a genetic diagnosis of TUBB8-oocyte maturation defect was revealed by exome sequencing. Two couples achieved pregnancies though oocyte donation after establishing the genetic etiology. Our results expand the role of TUBB8-disorders in patients of non-Asian ethnicity. Oocyte maturation defects of monogenic origin are a growing group of disorders that endocrinologists and reproductive medicine specialists should be aware in order to provide referral to genetics for establish a correct and opportune diagnosis.  相似文献   
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neurogenetics - Human RNF213, which encodes the protein mysterin, is a known susceptibility gene for moyamoya disease (MMD), a cerebrovascular condition with occlusive lesions and compensatory...  相似文献   
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Purpose

Endovascular treatment with mechanical thrombectomy devices demonstrated high recanalization rates but functional outcome did not correlate with high rates of recanalization obtained. Patient selection prior to the endovascular treatment is very important in the final outcome of the patient. The primary aim of our study was to evaluate the prognostic value of posterior circulation Alberta Stroke Program Early CT Score (pc-ASPECTS) and Pons-Midbrain Index (PMI) scores in patients with Basilar Artery Occlusion (BAO) treated with successful angiographic recanalization after mechanical thrombectomy.

Methods

Retrospective single-center study including 18 patients between 2008 and 2013 who had acute basilar artery occlusion managed with endovascular treatment within 24 hours from symptoms onset and with successful angiographic recanalization. The patients were initially classified into two groups according to clinical outcome and mortality at 90 days. For analysis we also divided patients into groups based on pc-ASPECTS (≥8vs.< 8) and PMI (≥3vs.< 3) on non-contrast CT (NCCT) and CT Angiography Source Images (CTASI). Imaging data were correlated to clinical outcome and mortality rate.

Results

CTASI pc-ASPECTS, dichotomized at < 8 versus≥8, was associated with a favorable outcome (RR: 2.6; 95% CI: 1.3-5.2) and a reduced risk of death (RR: 6.5: 95% CI: 7.8-23.3). All patients that survived and were functionally independent had pc-ASPECTS score≥8. None of the 5 patients with CTASI pc-ASPECTS score less than 8 survived.

Conclusion

PC-ASPECTS on CTASI is helpful for predicting functional outcome after BAO recanalization with endovascular treatment. These results should be validated in a randomized controlled trial in order to decide whether or not to treat a patient with BAO.  相似文献   
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Background and objectives

A prompt and effective management of trauma patient is necessary. The aim of this case report is to highlight the importance of intraoperative echocardiography as a useful tool in patients suffering from refractory hemodynamic instability no otherwise explained.

Case report

A 41 year‐old woman suffered a car accident. At the emergency department, no abnormalities were found in ECG or chest X‐ray. Abdominal ultrasound revealed the presence of abdominal free liquid and the patient was submitted to urgent exploratory laparotomy. Nevertheless, she persisted suffering arterial hypotension and metabolic acidosis. Looking for the reason of her hemodynamic instability, intraoperative transthoracic echocardiography was performed, finding out the presence of pericardial effusion. Once the cardiac surgeon extracted pericardial clots, patient's situation improved clinically and analytically.

Conclusion

Every anesthesiologist should be able to use the intraoperative echocardiography as an effective tool in order to establish the appropriate measures to promote the survival of patients suffering severe trauma.  相似文献   
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Chondrocytes are the main cells in the extracellular matrix (ECM) of articular cartilage and possess a highly differentiated phenotype that is the hallmark of the unique physiological functions of this specialised load-bearing connective tissue. The plasma membrane of articular chondrocytes contains a rich and diverse complement of membrane proteins, known as the membranome, which defines the cell surface phenotype of the cells. The membranome is a key target of pharmacological agents and is important for chondrocyte function. It includes channels, transporters, enzymes, receptors, and anchors for intracellular, cytoskeletal and ECM proteins and other macromolecular complexes. The chondrocyte channelome is a sub-compartment of the membranome and includes a complete set of ion channels and porins expressed in these cells. Many of these are multi-functional proteins with “moonlighting” roles, serving as channels, receptors and signalling components of larger molecular assemblies. The aim of this review is to summarise our current knowledge of the fundamental aspects of the chondrocyte channelome, discuss its relevance to cartilage biology and highlight its possible role in the pathogenesis of osteoarthritis (OA). Excessive and inappropriate mechanical loads, an inflammatory micro-environment, alternative splicing of channel components or accumulation of basic calcium phosphate crystals can result in an altered chondrocyte channelome impairing its function. Alterations in Ca2+ signalling may lead to defective synthesis of ECM macromolecules and aggravated catabolic responses in chondrocytes, which is an important and relatively unexplored aspect of the complex and poorly understood mechanism of OA development.  相似文献   
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