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Annals of Clinical and Laboratory Science

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https://read.qxmd.com/read/30610057/validation-of-a-screening-method-for-dynamic-mutations-in-the-fmr1-gene
#1
Ivana Škrlec, Karmela Barišić, Jasenka Wagner
The objectives of this study were to validate the direct triplet-primed PCR method (dTP-PCR) for determination of dynamic mutations in the FMR1 gene, and to compare the results of the dTP-PCR method and Southern blot analysis. The number of CGG repeats in the FMR1 gene was determined by the direct triplet-primed PCR method and by melting curve analysis. The cut-off temperature between normal and permutations of the CGG repeats was determined using control samples with a known number of CGG repeats. All patients are classified into four categories based on the DNA melting curve...
November 2018: Annals of Clinical and Laboratory Science
https://read.qxmd.com/read/30610056/whole-exome-sequencing-identified-a-novel-frameshift-mutation-of-neurofibromin-1-in-a-chinese-family-with-neurofibromatosis-type-1
#2
LETTER
Lv Liu, Jieli Qin, Hong Luo
No abstract text is available yet for this article.
November 2018: Annals of Clinical and Laboratory Science
https://read.qxmd.com/read/30610055/atypical-acute-monocytic-leukemia-a-lymphoma-presentation-and-association-with-complex-karyotype
#3
LETTER
Keyu Liu, Yanfang Yu, Xiaolei Chai, Huijuan Song, Junping Yin, Lizhen Zhao, Zexian Fu
A 71-year-old woman presented with acute monocytic leukemia with lymphoma-like morphologic features and an unusual complex karyotype. Bone marrow (BM) aspiration revealed acute monocytic leukemia with lymphoma-like morphologic features. Thus, we called the condition a lymphoma presentation. The patient was diagnosed with acute monocytic leukemia (AML FAB M5a) according to the French-American-British (FAB) classification and the new World Health Organization (WHO) classification [1]. To our knowledge, this is the first reported case of an unusual complex karyotype in acute monocytic leukemia with a lymphoma presentation and adds to the expanding list of karyotypic abnormalities seen in acute monocytic leukemia...
November 2018: Annals of Clinical and Laboratory Science
https://read.qxmd.com/read/30610054/association-of-the-body-mass-index-with-the-presence-of-gastroesophageal-varices-in-compensated-cirrhotic-patients-with-hepatitis-c-viral-infection
#4
LETTER
Hirayuki Enomoto, Nobuhiro Aizawa, Naoto Ikeda, Yoshiyuki Sakai, Ryo Takata, Kunihiro Hasegawa, Yuho Miyamoto, Minako Inoue, Takashi Nishimura, Chikage Nakano, Noriko Ishii, Yukihisa Yuri, Kazunori Yoh, Akio Ishii, Tomoyuki Takashima, Hiroki Nishikawa, Yoshinori Iwata, Hiroko Iijima, Shuhei Nishiguchi
Obesity is regarded as a risk factor for various benign and malignant diseases. We evaluated whether or not the body mass index (BMI) was associated with the presence of gastroesophageal varices in asymptomatic hepatitis C virus (HCV)-related compensated cirrhosis (Child-Pugh grade A status). Among a total of 794 patients of HCV-related chronic liver disease, 90 had histologically-proven cirrhosis, and 63 were classified as having compensated cirrhosis (30 had varices, and the remaining 33 did not). The values of prothrombin time (%) and platelet count were significantly lower in the patients with varices than in those without ( P =0...
November 2018: Annals of Clinical and Laboratory Science
https://read.qxmd.com/read/30610053/a-case-of-suspected-streptococcus-pneumoniae-hemolytic-uremic-syndrome-phus-with-utilization-of-minor-crossmatching-for-platelet-blood-products-lead-to-a-diagnosis-of-atypical-hemolytic-uremic-syndrome-ahus
#5
Yi Tat Tong, Suhair Al-Salihi, Tatiana Belousova, Yu Bai, Kimberly Klein, Hlaing Tint, Brian Castillo
BACKGROUND: The action of bacterial neuraminidase of Streptococcus pneumoniae (SPN) results in exposure of the normally "hidden" Thomsen-Freidenreich antigen (T-antigen) found on erythrocytes and other tissues. This may lead to SPN-induced hemolytic uremic syndrome (pHUS) with subsequent hemolysis and end organ damage. pHUS can be identified by minor crossmatch incompatibility. We present a case of suspected pHUS that resulted in a compatible minor crossmatch which led to concern and eventually diagnosis of atypical HUS (aHUS)...
November 2018: Annals of Clinical and Laboratory Science
https://read.qxmd.com/read/30610052/synchronous-diagnosis-of-de-novo-acute-myeloid-leukemia-with-inv-16-p13q22-and-chronic-lymphocytic-leukemia-a-case-report-and-review-of-the-literature
#6
Olubunmi Shoyele, Gunjan Gupta
The occurrence of de novo acute myeloid leukemia (AML) with chronic lymphocytic leukemia (CLL) is rare. Most cases of hematologic malignancies such as AML occurring in patients with pre-existing CLL are therapy-related. In this report, we describe a 65-year-old male with no past history of a hematolymphoid malignancy, who presented with abdominal pain. He was evaluated for acute diverticulitis, and incidentally found to have 14% circulating blasts upon peripheral blood smear review for anemia and thrombocytopenia...
November 2018: Annals of Clinical and Laboratory Science
https://read.qxmd.com/read/30610051/rare-association-of-mucolipidosis-iii-alpha-beta-with-dilated-cardiomyopathy
#7
Min Jung Kwak, Hye Won Lee, Young Mi Kim, Sung Yoon Cho, Hyung-Doo Park, Dong-Kyu Jin
Mucolipidosis III alpha/beta (ML III alpha/beta) is an autosomal recessive lysosomal storage disorder caused by N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase) deficiency. It is characterized by coarse facial features, developmental delay, short stature, and skeletal deformities. Its cardiovascular symptoms include valvular thickening or hypertrophic cardiomyopathy. A 32-year-old female patient received heart transplantation due to end-stage heart failure caused by dilated cardiomyopathy (DCM)...
November 2018: Annals of Clinical and Laboratory Science
https://read.qxmd.com/read/30610050/a-phenotypically-unusual-hemoglobin-h-disease-resulting-from-a-rare-%C3%AE-globin-genotype-sea-%C3%AE-27-6
#8
Li-Qin Ling, Hao Chen, Song-Liang Yu, Si Chen, Chao-Nan Liu, Qin Li, Min-Jin Wang, Jing Zhou
Hemoglobin H (Hb H) disease is usually characterized by the existence of Hb H, which influences the degree of functional anemia. We here report a patient with a rare Hb H disease genotype (-SEA /-α27.6 ), who was observed to paradoxically have no detectable Hb H fraction on electrophoresis. To date, the reason why the quantity of Hb H component and the clinical presentation in Hb H disease vary widely is still incompletely understood. Our report demonstrates a possible explanation - the different degradation ability of excess β-globin chains, which might be regulated by the 27...
November 2018: Annals of Clinical and Laboratory Science
https://read.qxmd.com/read/30610049/oculodentodigital-dysplasia-with-a-novel-mutation-in-gja1-diagnosed-by-targeted-gene-panel-sequencing-a-case-report-and-literature-review
#9
Jaeyoung Choi, AramYang, Ari Song, Minji Lim, Jinsup Kim, Ja-Hyun Jang, Ki-Tae Park, SungYoon Cho, Dong-Kyu Jin
Oculodentodigital dysplasia (ODDD; MIM #164200), a rare genetic disorder characterized by abnormal craniofacial, dental, ocular, and digital features, is caused by mutations in the gap junction alpha-1 ( GJA1 ) gene. We report a case of a 6-year-old male who presented with dysmorphic facial features (short palpebral fissure, thin nose with hypoplastic alae nasi, and flat face), bilateral syndactyly, abnormal dentition, and proportionate short stature with growth hormone deficiency. A novel de novo heterozygous missense mutation (c...
November 2018: Annals of Clinical and Laboratory Science
https://read.qxmd.com/read/30610048/periductal-stromal-tumor-of-the-breast-case-report-and-literature-review
#10
Elmira Vaziri Fard, Songlin Zhang
Periductal stromal hyperplasia is an exceedingly rare biphasic breast tumor with benign ductal elements and spindle-cell stromal proliferation lacking a phyllodes architecture. It is unclear whether this tumor belongs to the spectrum of phyllodes tumor or is a separate entity. We present a 57-year-old woman with a 3.0×2.3×1.0 cm lesion in the left breast. Sections of the excision specimen showed nodular hypercellular spindle cell proliferation with ductal centric arrangement and infiltration into the adipose tissue...
November 2018: Annals of Clinical and Laboratory Science
https://read.qxmd.com/read/30610047/hsa-mir-7-is-a-potential-biomarker-for-idiopathic-inflammatory-myopathies-with-interstitial-lung-disease-in-humans
#11
Liqiang Yu, Jie Li, Yujue Chen, Juean Jiang, Qi Fang, Jianhua Jiang, Dapeng Wang, Meirong Liu
microRNAs (miRNAs) have been identified as biomarkers for various diseases. However, the significance of circulating miRNAs for the diagnosis of idiopathic inflammatory myopathies (IIM) is still unknown. In this study, we aim to investigate the significance of miRNAs as potential biomarkers for predicting the patients with IIM and interstitial lung disease (ILD) METHODS: Total RNA was isolated from plasma of 43 IIM patients and 43 healthy people. The expression of miRNAs was analyzed by miRNA microarray and validated by qRT-PCR RESULTS: Microarray shows more differentially expressed circulating miRNAs found in IIM patients compared with healthy controls ( P <0...
November 2018: Annals of Clinical and Laboratory Science
https://read.qxmd.com/read/30610046/the-relationship-between-serum-total-bilirubin-and-carotid-intima-media-thickness-in-patients-with-prehypertension
#12
Qing-Shan Lyu, Yu-Qing Huang
AIM: It has been found that serum total bilirubin has a vital role in anti-inflammatory and antioxidant progress. Prehypertension, the intermediate stage between normal blood pressure and hypertension, is linked with subclinical atherosclerosis and target-organ damage. METHODS: This study was designed to evaluate the relationship between total bilirubin and carotid intima-media thickness (cIMT), a marker of subclinical atherosclerosis, in patients with prehypertension...
November 2018: Annals of Clinical and Laboratory Science
https://read.qxmd.com/read/30610045/a-clinical-trial-on-oral-h-pylori-infection-of-preschool-children
#13
Yuee Xu, Yuan Song, XianPing Wang, Xin Gao, ShuXiang Li, John Kc Yee
GOALS: Over the past twenty years, the existence of oral Helicobacter pylori ( H. pylori ) infection has been controversial and is still disputed. It proposes that living H. pylori do not exist in the oral cavity. However, the progressive loss of efficacy of standard eradication therapies has made the treatment of H. pylori more challenging than ever due to oral H. pylori infection. We conducted a study to explore the existence of oral H. pylori infection in preschool children. PROCEDURES: A total of 178 children were recruited and evaluated using the saliva H...
November 2018: Annals of Clinical and Laboratory Science
https://read.qxmd.com/read/30610044/role-of-bone-marrow-mesenchymal-stromal-cells-in-attenuating-inflammatory-reaction-in-lipopolysaccaride-induced-acute-kidney-injury-of-rats-associated-with-tlr4-nf-%C3%AE%C2%BAb-signaling-pathway-inhibition
#14
Guang-Hui Xiu, Xia Zhou, Xiu-Ling Li, Xian-Zhong Chen, Bing-Qin Li, Xiao-Lei Chen, Hua Jin, Xing-Hua Pan, Jie Sun, Bin Ling
Bone marrow mesenchymal stromal cells (BMSCs) have positive therapeutic effects on inflammation associated diseases. However, the underlying mechanism is largely unknown. This study was conducted to investigate whether BMSCs could alleviate the inflammation reaction in lipopolysaccaride (LPS)-induced acute kidney injury (septic-AKI) of rats via inhibition of toll-like receptors (TLR4)-nuclear factor-kappa B (NF-κB) signaling pathway. The septic-AKI rat model was established by injecting the 1ml/mg LPS through the femoral vein...
November 2018: Annals of Clinical and Laboratory Science
https://read.qxmd.com/read/30610043/3-iodothyronamine-acting-through-an-anti-apoptotic-mechanism-is-neuroprotective-against-spinal-cord-injury-in-rats
#15
Jinnan Lv, Joshua Liao, Wei Tan, Leiluo Yang, Xuexing Shi, Huiqian Zhang, Li Chen, Shuo Wang, Qing Li
This study aims to show how 3-iodothyronamine (T1AM) protects against spinal cord injury (SCI) in rats. We randomly divided adult female Sprague-Dawley rats (N=54) into three equal groups: (1) untreated control (n=18) (2) T1AM (n=18) (3) T1AM+EPPTB (n=18). The clamp method was used to produce SCI at the T10 segment, and the following data were collected 3, 5, and 7 days after the injury plus treatment. The mean BBB scores of both the control and T1AM+EPPTB groups were 1.5±0.5, 3.5±0.5, and 4.5±0.5 on days 3, 5, and 7 after SCI, respectively, whereas those for the T1AM group were 3...
November 2018: Annals of Clinical and Laboratory Science
https://read.qxmd.com/read/30610042/algorithm-to-estimate-the-extended-turnaround-time-including-outpatient-waiting-time-for-blood-specimen-collection-when-a-stand-alone-queue-ticket-system-not-connectable-to-laboratory-information-system-is-used
#16
Yeunjoo E Song, Heechan Kang, Haeil Park
BACKGROUND: A queue ticket system (QTS) used in an outpatient phlebotomy clinic was unable to be directly integrated with the laboratory information system (LIS). To monitor patient's waiting time and extended turnaround time (TAT) as patient-centered quality indicators for outpatient laboratory services, we developed an algorithm to integrate data between the QTS and the LIS. METHODS: Between June 1 to September 30, 2017, data files were exported from a QSYS-8000 (HION Tech, Seoul, Korea)...
November 2018: Annals of Clinical and Laboratory Science
https://read.qxmd.com/read/30610041/downregulation-of-mir-196b-promotes-glioma-cell-sensitivity-to-temozolomide-chemotherapy-and-radiotherapy
#17
Ruimin Ma, Guanghui Zheng, Chunqing Shao, Jingzheng Liu, Hong Lv, Guojun Zhang
Human glioma is the most common type of primary brain tumor. The survival rate of people with a malignant glioma is extremely low, primarily due to a lack of effective treatments. We previously reported that miR-196b expression is upregulated in glioblastoma tissues and overexpression of miR-196b is associated with poor prognosis. miR-196b acts as an oncogene by enhancing cellular proliferation and increasing the expression of E2F1, which plays an important role in the PI3K/AKT signaling pathway. In the present study, we explored the effects of miR-196b expression on glioma cells and characterized the relationship between miR-196b expression and the PI3K/AKT signaling pathway...
November 2018: Annals of Clinical and Laboratory Science
https://read.qxmd.com/read/30610040/upregulated-expression-of-serum-exosomal-micrornas-as-diagnostic-biomarkers-of-lung-adenocarcinoma
#18
Min Feng, JingYuan Zhao, Liang Wang, Jing Liu
Lung cancer is the leading cause of cancer-related death worldwide. Lung adenocarcinoma (AC) cases account for approximately 40% of lung cancers. Early diagnosis can reduce mortality, improve prognosis, prolong survival, and improve quality of life. Specific and stable biomarkers for early diagnosis of AC are still lacking. Exosomal miRNAs are enriched in the circulatory system and are remarkably stable compared to extracellular miRNAs because exosomes protect them from RNase degradation. In our study, we isolated serum exosomal miRNAs from AC patients and from healthy controls to find highly stable and sensitive biomarkers for early detection of AC...
November 2018: Annals of Clinical and Laboratory Science
https://read.qxmd.com/read/30610039/increased-expression-of-lncrna-rp11-397a15-4-in-gastric-cancer-and-its-clinical-significance
#19
Hui Chen, Zhiying Xu, Xiangfeng Liu, Yi Gao, Juan Wang, Peng Qian, Bin Yang
BACKGROUND: Long noncoding RNAs (lncRNAs) have been demonstrated to have potential diagnostic and prognostic values for many types of cancers. However, their clinical value in patients with gastric cancer (GC) remains unknown. METHODS: The expression levels of lncRNA RP11-397A15.4 in 68 GC tissues and their matched adjacent non-tumor tissues from GC patients and in 24 normal mucosa or those with minimal gastritis (healthy controls) were determined by qRT-PCR. The expression levels of lncRNA RP11-397A15...
November 2018: Annals of Clinical and Laboratory Science
https://read.qxmd.com/read/30610038/prognostic-significance-of-categorizing-gastric-carcinoma-by-pd-l1-expression-and-tumor-infiltrating-lymphocytes
#20
Byeong-Joo Noh, Ji Hoon Kim, Dae-Woon Eom
GOALS: We categorized gastric cancers into four types of tumor immune microenvironment based on PD-L1 expression and tumor-infiltrating lymphocytes (TILs) to analyze clinicopathologic characteristics and recommend an immunotherapy-targetable subgroup. PROCEDURES: Formalin-fixed, paraffin-embedded tissue samples of randomly selected gastric adenocarcinoma (n=479) were obtained and arrayed using a tissue-arraying instrument. Immunohistochemical stains for PD-L1, PD-1, and CD8 were performed and evaluated in addition to microsatellite instability, EBV infection, and HER-2 analyses...
November 2018: Annals of Clinical and Laboratory Science
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