Clinica Chimica Acta
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#1Anne Chen (WashU: Washington University in St. Louis)
#2Jeanne Anderson (Barnes-Jewish Hospital)H-Index: 1
Last. John L. Frater (WashU: Washington University in St. Louis)H-Index: 15
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Abstract null null Background null There have been few reports regarding the frequency and types of preanalytical errors in stat laboratories, in particular those occurring in the satellite laboratory setting. The impact of this error type on laboratory performance in this environment is largely unknown. We assessed the performance of a stat laboratory serving a population of predominantly elderly patients with suspected or established diagnoses of cancer using Six Sigma methodology and compared...
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#1James O. Westgard (UW: University of Wisconsin-Madison)H-Index: 26
#2Hassan BayatH-Index: 5
Last. Sten A. WestgardH-Index: 12
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Abstract null null Background null Risk-based Statistical QC strategies are recommended by the CLSI guidance for Statistical Quality Control (C24-Ed4). Using Parvin’s patient risk model, QC frequency can be determined in terms of run size, i.e., the number of patient samples between QC events. Run size provides a practical goal for planning SQC strategies to achieve desired test reporting intervals. null null null Methods null A QC Frequency calculator is utilized to evaluate critical factors (q...
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#1Chun-Yu Gu (Tianjin Medical University)H-Index: 1
#2Hong Wang (Boston Children's Hospital)
Last. Peiyuan Zhang (Boston Children's Hospital)
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Abstract null null Ataxia-telangiectasia (A-T) is an infrequent autosomal recessive multisystem disorder characterized by progressive cerebellar ataxia, oculo-cutaneous telangiectasia, a tendency to malignancies and variable immunodeficiency. Here we described a 5-year-old girl with atypical A-T symptoms. And 2 different ATM variants c.5939_5948del in exon 40 and c.2639-384A>G in intron 17 were detected by whole exome sequencing (WES) combined with RNA sequencing (RNA-seq). The variant spectrum ...
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#1Ze-Liang Qiu (Soochow University (Suzhou))H-Index: 1
#2Bi-Qing Yan (NBU: Ningbo University)
Last. Shi-Qi Lu (Soochow University (Suzhou))
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BACKGROUND AND AIMS The early prediction of the development of acute kidney injury (AKI) in critically ill patients with sepsis would facilitate early effective intervention. Recently, interest has focused on the biomarkers for AKI-linked iron metabolism. This study aimed to assess the early predictive values of hepcidin, neutrophil gelatinase-associated lipocalin (NGAL), and their combination for secondary AKI in patients with sepsis. MATERIALS AND METHODS A prospective cohort study was perform...
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Abstract null null Background null Cockayne syndrome (CS) is a rare autosomal recessive disorder with characteristic multisystem involvement including pre- or post-natal growth failure, progressive neurological dysfunction, psychomotor retardation, cerebral atrophy, microcephaly and mental retardation, due to mutations in either the ERCC8/CSA or ERCC6/CSB gene. null null null Method null We present two Iranian patients with remarkable growth failure, developmental delay, microcephaly, severe spe...
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#1Sander De BruyneH-Index: 3
#2Dirk OmmeslagH-Index: 1
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Abstract null null Background null Bronchial casts can be defined as gelatinous structures originating from the airways. While several cases of bronchial cast formation have been reported in literature, unravelling its nature is often a difficult task. null null null Methods null In this case report, we applied infrared (IR) spectroscopy on a bronchial cast fragment originating from a patient who suffered from a 2-y history of frequent coughing accompanied by the occasional expectoration of visc...
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#1Loralie J. Langman (Mayo Clinic)H-Index: 18
#2Jeremy Gaskins (University of Louisville)H-Index: 7
Last. Madhusudhan R. YakkantiH-Index: 6
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BACKGROUND Hydrocodone is the most prescribed opioid in the US. The objective was to evaluate associations between genetic, intrinsic, and extrinsic patient factors, plasma hydrocodone and metabolites, common side effects, and pain scores in a cohort of orthopedic surgery patients. METHODS Data for each patient was collected by review of the electronic hospital record (EHR), and patient interview. Patients were recruited from those with trauma or undergoing scheduled elective surgery for total k...
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#1Ghulam Qadir Chanihoon (University of Sindh)
#2Hassan Imran Afridi (University of Sindh)H-Index: 59
Last. Jameel Ahmed Baig (University of Sindh)H-Index: 36
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Abstract null null Background null Ewing’s sarcoma is a very rare type of cancerous tumor that grows in bones or the soft tissue around the bones, such as cartilage or the nerves. It frequently affects the people at the age of 10 to 20 years and has elevated rate of being cured. null null null Methods null Assessment of essential trace [zinc (Zn)] and toxic [cadmium (Cd)] elements in biological samples (scalp hair and blood) of Ewing sarcoma patients (n=87 age ranging 07-19 years) residents of v...
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#1Dylan E. Jones (UNR: University of Nevada, Reno)H-Index: 2
#2Emma Klacking (UNR: University of Nevada, Reno)
Last. Robert O. Ryan (UNR: University of Nevada, Reno)H-Index: 62
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A growing number of inborn errors of metabolism (IEM) associated with compromised mitochondrial energy metabolism manifest an unusual phenotypic feature: 3-methylglutaconic (3MGC) aciduria. Two major categories of 3MGC aciduria, primary and secondary, have been described. In primary 3MGC aciduria, IEMs in 3MGC CoA hydratase (AUH) or HMG CoA lyase block leucine catabolism, resulting in a buildup of pathway intermediates, including 3MGC CoA. Subsequent thioester hydrolysis yields 3MGC acid, which ...
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#6Muhammad Akram (GCUF: Government College University, Faisalabad)H-Index: 31
Parkinson's disease is a neurodegenerative disease caused by the death of neurons, ie, cells critical to the production of dopamine, an important neurotransmitter in the brain. Here, we present a brief review of the dopamine synthetic pathway, binding to the dopamine receptors, and subsequent action. The production of dopamine (a monoamine neurotransmitter) occurs in the ventral tegmental area (VTA) of the substantia nigra, specifically in the hypothalamic nucleus and midbrain. Compared to other...
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