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clinical laboratory diagnose

S Florim, A Almeida, D Rocha, P Portugal
Acute mesenteric ischaemia (AMI) is an uncommon cause of acute hospital admission with high mortality rates (50-90%) that requires early diagnosis and treatment. With the increase in average life expectancy, AMI represents one of the most threatening abdominal conditions in elderly patients. Untreated, AMI will cause mesenteric infarction, intestinal necrosis, an overwhelming inflammatory response and death. Early intervention can reverse this process leading to a full recovery, but the diagnosis of AMI is difficult...
August 17, 2018: Insights Into Imaging
Carmen Regla Vargas, Graziela Schmitt Ribas, Janine Machado da Silva, Angela Sitta, Marion Deon, Daniella de Moura Coelho, Moacir Wajner
BACKGROUND: Inborn errors of metabolism (IEM) are diseases which can lead to accumulation of toxic metabolites in the organism. AIM OF THE STUDY: To investigate, by selective screening, mitochondrial fatty acid oxidation defects (FAOD) and organic acidemias in Brazilian individuals with clinical suspicion of IEM. METHODS: A total of 7,268 individuals, from different regions of Brazil, had whole blood samples impregnated on filter paper which were submitted to the acylcarnitines analysis by liquid chromatography/tandem mass spectrometry (LC/MS/MS) at the Medical Genetics Service of Hospital de Clínicas de Porto Alegre, Brazil, during July 2008-July 2016...
August 14, 2018: Archives of Medical Research
Liangying Zhong, Xin Gan, Lingling Xu, Chujia Liang, Yingjun Xie, Wenbin Lin, Peisong Chen, Min Liu
BACKGROUND: Thalassemias (TM) are the most common autosomal recessive disorders in Southeast Asian countries. Both α- and β-thalassemia lead to a decrease or absence of globin chains. The most serious of the thalassemia syndromes is thalassemia major which is characterized by a transfusion dependent anemia and subsequent iron overload caused by repeated blood transfusions. It is preventive by genotyping the parents. A better understanding of the laboratory data will help provide an accurate diagnosis of thalassemia major, and prevention and controlling programs in routine laboratories...
August 17, 2018: BMC Medical Genetics
Zhaoyi Chen, Victoria Y Bird, Rupam Ruchi, Mark S Segal, Jiang Bian, Saeed R Khan, Marie-Carmelle Elie, Mattia Prosperi
BACKGROUND: Kidney stone (KS) disease has high, increasing prevalence in the United States and poses a massive economic burden. Diagnostics algorithms of KS only use a few variables with a limited sensitivity and specificity. In this study, we tested a big data approach to infer and validate a 'multi-domain' personalized diagnostic acute care algorithm for KS (DACA-KS), merging demographic, vital signs, clinical, and laboratory information. METHODS: We utilized a large, single-center database of patients admitted to acute care units in a large tertiary care hospital...
August 17, 2018: BMC Medical Informatics and Decision Making
Giuseppe Berton, Rocco Cordiano, Fiorella Cavuto, Francesco Bagato, Beatrice Segafredo, Mattia Pasquinucci
AIM: To investigate the clinical features and incidence of malignant neoplasia during 17 years of follow-up in an unselected sample of patients with acute coronary syndrome (ACS). METHODS: The Adria, Bassano, Conegliano, and Padova Hospital-4 Study on Heart Disease is an ongoing, prospective study of an unbiased population of patients with ACS. Baseline clinical and laboratory data were obtained during the first 7 days of hospitalization at three different intensive coronary care units...
August 14, 2018: Journal of Cardiovascular Medicine
Yeela Ben Naftali, Ori Samuel Duek, Ram Kalus, Marc Berns, Yaniv Zohar, Yehuda Ullmann
INTRODUCTION: Cutaneous squamous cell carcinoma (SCC) is a common skin cancer, second in incidence only to basal cell carcinoma (BCC). The incidence of SCC increases significantly with age; thus, it is rarely diagnosed in young patients. In this paper, we present two cases of young patients who presented clinically with purulent lesions that were later diagnosed as large primary SCCs. MATERIALS AND METHODS: A review of the medical records of two patients who were admitted to the department of plastic surgery with a final clinical diagnosis of cutaneous SCC was conducted...
August 8, 2018: International Journal of Surgery Case Reports
Benjamin M Helm, Mark D Ayers, Adam C Kean
Clinical genetics services continue to expand into diverse medical specialties. An ever-increasing number of non-genetics providers are independently ordering genetic tests, interpreting results, and at times, making diagnoses leading to patient care recommendations. Non-genetics healthcare providers can help increase patient access to these services, but a potential pitfall occurs when these providers either do not have adequate expertise with genetic variant interpretation or do not have access to multi-disciplinary teams including genetic counselors or clinical geneticists for advanced review...
August 16, 2018: Journal of Genetic Counseling
Andrés Laserna, Sudhakar Tummala, Neel Patel, Diaa Eldin Mohamed El Hamouda, Cristina Gutiérrez
Atezolizumab is a monoclonal antibody that targets programmed death ligand-1. Treatments with this drug may cause immune-related adverse events by creating an exaggerated inflammatory response. The most common side effects are fatigue, rash, and gastrointestinal symptoms. Cases of central nervous system toxicity such as encephalitis and encephalopathy are uncommon. We present the case of a 53-year-old female with metastatic squamous cell carcinoma of the cervix who presented to the emergency room 13 days after receiving atezolizumab with altered mental status, headache, and meningeal signs...
2018: SAGE Open Medical Case Reports
Ayça Bilge Sönmez, İlter Arifoğlu, Ahmet Yıldırım, Filiz Tütüncüler
Benign transient hyperphosphatasemia is characterized by a significant increase in alkaline phosphatase levels, which is detected incidentally in infancy and children without underlying bone and liver disease. This condition is a biochemical disorder rather than a clinical disorder and resolves within a short duration. Recognition of this entity by pediatricians is important to avoid unnecessary investigations. Here, we report an infant who was diagnosed as having benign transient hyperphosphatasemia based on clinical and laboratory findings who had increased alkaline phosphatase levels during zinc supplementation, with the aim of highlighting benign transient hyperphosphatasemia in infancy and childhood...
June 2018: Türk Pediatri Arşivi
Luca Trotta, Anna Norberg, Mervi Taskinen, Vivien Béziat, Sofie Degerman, Ulla Wartiovaara-Kautto, Hannamari Välimaa, Kirsi Jahnukainen, Jean-Laurent Casanova, Mikko Seppänen, Janna Saarela, Minna Koskenvuo, Timi Martelius
BACKGROUND: The telomere biology disorders (TBDs) include a range of multisystem diseases characterized by mucocutaneous symptoms and bone marrow failure. In dyskeratosis congenita (DKC), the clinical features of TBDs stem from the depletion of crucial stem cell populations in highly proliferative tissues, resulting from abnormal telomerase function. Due to the wide spectrum of clinical presentations and lack of a conclusive laboratory test it may be challenging to reach a clinical diagnosis, especially if patients lack the pathognomonic clinical features of TBDs...
August 17, 2018: Orphanet Journal of Rare Diseases
Haixiao Zou, Li Song, Mengqi Jia, Li Wang, Yanfang Sun
RATIONALE: Only 4.5% of brown tumors involve facial bones; of these, solitary bone involvement is usual. Brown tumors of multiple facial bones are extremely rare. Here, we report the case of a brown tumor of multiple facial bones initially misdiagnosed as an odontogenic cyst. PATIENT CONCERNS: A pregnant 26-year-old woman was referred to our hospital with painful swelling of multiple facial bones, anemia, urinary calculi, marasmus, and a history of multiple bone fractures...
August 2018: Medicine (Baltimore)
Yangting Cai, Haixiong Lin, Feng Huang, Xiaohui Zheng, Yaohua Huang, Shuncong Zhang
RATIONALE: Multiple diaphyseal sclerosis (MDS), known as Ribbing disease, is a rare congenital bone disease resulting from autosomal recessive inheritance. The case study involved a 22-year-old female patient who had been diagnosed with chronic sclerosing osteomyelitis due to lack of knowledge about MDS. Previous studies reported rarely on this condition. PATIENT CONCERNS: A 22-year-old female with MDS was analyzed. DIAGNOSES: MDS is characterized radiographically by a fusiform widening of the diaphyseal portion of the long bones, which is caused by a thickening of the cortex with obstruction of the medullary cavity...
August 2018: Medicine (Baltimore)
Yan Wang, Chun Qiao, Rui Guo, Hui Wang, Hui Yang, Hai-Rong Qiu, Yu-Jie Wu, Jian-Fu Zhang, Rong Wang, Si-Xuan Qian, Jian-Yong Li
OBJECTIVE: To analyze the clinical and laboratory features of acute myeloid leukemia (AML) with cuplike nuclei morphology. METHODS: One hundred and seventy patients diagnosed with AML (M1andM2) between December 2009 and December 2016 were included in the study. Bone marrow smears were prepared for morphologic alanalysis, the immunophenotype was analyzed by flow cytometry and the RHG-banding was for conventional cytogenetic assay (CCA) ,gene mutation was detected by sequencing...
August 2018: Zhongguo Shi Yan Xue Ye Xue za Zhi
Kaylee R Mastrianni, William E Kemnitzer, Kevin W P Miller
Catecholamines are integral neurotransmitters in the central and peripheral nervous system. Clinically, catecholamine levels are determined to help diagnose disease and measure corresponding therapeutic effectiveness. However, manual extraction of catecholamines and their metabolites may be labor-intensive and user-variable and require a variety of peripheral laboratory devices, especially at low sample concentrations. Here, we propose a novel solid-phase extraction (SPE) method using patented dispersive pipette extraction (DPX) tip technology...
August 15, 2018: SLAS Technology
M Tchuenche, M M Gill, L Bollinger, L Mofenson, M Phalatse, M Nchephe, M Mokone, V Tukei, A Tiam, S Forsythe
BACKGROUND: Infants with HIV infection, particularly those infected in utero, who do not receive antiretroviral therapy (ART) have high mortality in the first year of life. Virologic diagnostic testing is recommended by the World Health Organization between ages 4 and 6 weeks after birth. However, adding very early infant diagnosis (VEID) testing at birth has been suggested to enable earlier diagnosis and rapid treatment of in utero infection. We assessed the costs of adding VEID to the standard 6-week testing in Lesotho where coverage of PMTCT services is nearly universal...
2018: PloS One
Christopher Cy Mak, Gordon Kc Leung, Gary Tk Mok, Kit San Yeung, Wanling Yang, Cheuk-Wing Fung, Sophelia Hs Chan, So-Lun Lee, Ni-Chung Lee, Rolph Pfundt, Yu-Lung Lau, Brian Hy Chung
Currently, offering whole-exome sequencing (WES) via collaboration with an external laboratory is increasingly common. However, the receipt of a WES report can be merely the beginning of a continuing exploration process rather than the end of the diagnostic odyssey. The laboratory often does not have the information the physician has, and any discrepancies in variant interpretation must be addressed by a medical geneticist. In this study, we performed diagnostic WES of 104 patients with paediatric-onset genetic diseases...
2018: NPJ Genomic Medicine
Xian-Zhang Zhan, Wei-Dong Lin, Fang-Zhou Liu, Yu-Mei Xue, Hong-Tao Liao, Xin Li, Xian-Hong Fang, Hai Deng, Jun Huang, Yang-Qiu Li, Jo-Jo Hai, Hung-Fat Tse, Shu-Lin Wu
Objective: To evaluate the predictive value of red cell distribution width (RDW) on left atrial thrombus (LAT) or left atrial spontaneous echo contrast (LASEC) in patients with non-valvular atrial fibrillation (AF). Methods: We reviewed 692 patients who were diagnosed as non-valvular AF and underwent transesophageal echocardiography (TEE) in Guangdong Cardiovascular Institute from April 2014 to December 2015. The baseline clinical characteristics, laboratory test of blood routine, electrocardiograph measurements were analyzed...
June 2018: Journal of Geriatric Cardiology: JGC
Leman Akcan Yildiz, Ayse Gultekingil, Selman Kesici, Benan Bayrakci, Ozlem Teksam
OBJECTIVE: Carbon monoxide (CO) is a gas, which is produced by incomplete combustion of hydrocarbon-containing substances, and causes significant tissue and organ damage in the common event of CO poisoning. This study aims to evaluate the demographic, clinical, and laboratory characteristics of patients diagnosed with CO poisoning in the emergency department and to determine the factors associated with severe course in the acute phase of poisoning. METHODS: A total of 331 patients diagnosed with CO poisoning in Hacettepe University Children's Hospital, Pediatric Emergency Unit, between January 2004 and March 2014 were included in the study...
August 13, 2018: Pediatric Emergency Care
William Pedrosa, Juliana Beaudette Drummond, Beatriz Santana Soares, Antônio Ribeiro-Oliveira
OBJECTIVES: The water deprivation test (WDT) is widely used for the differential diagnosis of the polyuria-polydipsia syndrome (PPS). However, it is inconvenient and may not always be precise in differentiating partial forms of diabetes insipidus (DI) from primary polydipsia (PP). The aim of this study was to evaluate the results of a combined outpatient and inpatient overnight WDT protocol that included an overnight non-supervised period concerning its feasibility and safety. METHODS: Retrospective analysis of clinical data and laboratory results of 52 patients with PPS undergoing WDT in a single center was undertaken...
August 14, 2018: Endocrine Practice
Rosy Tsopra, Jeremy C Wyatt, Paul Beirne, Kirsty Rodger, Matthew Callister, Dipansu Ghosh, Ian J Clifton, Paul Whitaker, Daniel Peckham
RATIONALE: One of the key functions of the discharge summary is to convey accurate diagnostic description of patients. Inaccurate or missing diagnoses may result in a false clinical picture, inappropriate management, poor quality of care, and a higher risk of re-admission. While several studies have investigated the presence or absence of diagnoses within discharge summaries, there are very few published studies assessing the accuracy of these diagnoses. The aim of this study was to measure the accuracy of diagnoses recorded in sample summaries, and to determine if it was correlated with the type of diagnoses (eg, "respiratory" diagnoses), the number of diagnoses, or the length of patient stay...
August 14, 2018: Journal of Evaluation in Clinical Practice
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