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Annals of Clinical and Laboratory Science

Yong-Jin Park, Seog-Ki Lee, Seong-Ho Kang, Sook-Jin Jang, Dae-Soo Moon, Geon Park
A novel FLCN c.1489_1490delTG (p.Val497Glyfs*22) mutation at the genomic DNA and mRNA levels was identified in a 43-year-old woman with complaining of recurrent primary spontaneous pneumothorax. The aberrant FLCN mRNA escaped the nonsense-mediated decay system (NMD) because of a premature termination code located in an NMD-incompetent region. To the best of our knowledge, this is the first case report of an FLCN mutation escaping the NMD.
September 2016: Annals of Clinical and Laboratory Science
Iliyana Pacheva, Ivan Ivanov, Marin Penkov, Daliya Kancheva, Albena Jordanova, Mariya Ivanova
A case with GAMT deficiency (homozygous c.64dupG mutation) presented with neurodevelopmental delay, rare seizures, behavioral disturbances, and mild hypotonia, posing diagnostic challenges. Metabolic investigations showed low creatinine in plasma and urine (guanidinoacetate couldn't be investigated) and slightly elevated lactate. MRI was normal. Correct diagnosis was possible only after MR spectroscopy was performed at age 5½ years. A homozygous c.64dupG mutation of the GAMT gene was identified in the proband...
September 2016: Annals of Clinical and Laboratory Science
Manju Ambelil, Sadia Sultana, Suvra Roy, Maria M Gonzalez
Anaplastic transformation of well-differentiated thyroid carcinomas at distant metastatic sites is a rare condition. Most cases described in the literature have occurred in the thyroid or regional lymph nodes. We report a case of anaplastic transformation of the follicular variant of papillary thyroid carcinoma in mandibular metastases. A 76-year-old female presented with a painful and enlarging mandibular mass. She had been treated in the past for the follicular variant of papillary thyroid carcinoma. A palliative hemi-mandibulectomy was performed...
September 2016: Annals of Clinical and Laboratory Science
Marco Arosio, Maurizio Ruggeri, Sabrina Buoro, Anna Locatelli, Gaia Ortalli, Lorenzo D'Antiga, Claudio Farina
This paper evaluates the capability of MicroSeq 500 instrument to improve the diagnosis of Mycobacterium genavense The strain was isolated from a two year old child admitted to our hospital for hepatosplenomegaly and massive abdominal lymphadenopathies. DNA was extracted from a lymph node and examined by amplifying 500 bp at the 5' end of 16S rRNA gene using MicroSeq 500 16S rDNA Bacterial Identification PCR kit. Sequencing reactions were performed with MicroSeq 500 16S rDNA Bacterial Identification Sequencing kit (Applied Biosystems, USA)...
September 2016: Annals of Clinical and Laboratory Science
Hani Yoo, Jung Min Ko, Byung Chan Lim, Hae Il Cheong
Craniofrontonasal syndrome (CFNS) is a very rare genetic disorder with variable clinical phenotypes, including brachycephaly, hypertelorism, and a bifid nasal tip. Moreover, longitudinal splittings of the nails and skeletal abnormalities may accompany this condition. CFNS is inherited in an X-linked dominant manner; however, affected heterozygous females exhibit additional and more severe manifestations compared with affected hemizygous males, paradoxically. Here, we report for the first time in Korea two girls with molecularly confirmed CFNS...
September 2016: Annals of Clinical and Laboratory Science
Suhair Al Salihi, Jamie Buryanek, Adan A Rios, Robert E Brown
A morphoproteomic analysis was performed to identify the proteins and corresponding molecular pathways activated for a case of non-HIV Kaposi's sarcoma. This analysis provides insight into the biology of the tumor and identifies etiopathogenetic correlates of HHV-8-Associated Kaposi's sarcoma that are useful in formulating therapeutic alternatives.
September 2016: Annals of Clinical and Laboratory Science
Hyunjung Kim, Jehoon Lee, Hi Jeong Kwon, Kwan Hyoung Kim, Chang Dong Yeo, Jin Woo Kim, Hae Kyung Lee
BACKGROUND: This study compared the diagnostic power of isothermal target and probe amplification (iTPA) with the existing real-time PCR for the detection of Mycobacterium tuberculosis (MTB). METHOD: The two molecular methods were performed using DNA extracted directly from lower respiratory tract samples, not from the culture broth. A total of 174 non-consecutive patients with suspected pulmonary tuberculosis were enrolled in this study. Acid-fast bacilli (AFB) stain and liquid culture with the BACTEC MGIT 960 system (Becton Dickinson Diagnostic, USA) were performed...
September 2016: Annals of Clinical and Laboratory Science
Kiwoong Ko, Shinae Yu, Eun Hee Lee, Hyosoon Park, Hee-Yeon Woo, Min-Jung Kwon
BACKGROUND: Various assays for detecting high-risk human papillomavirus (HR HPV) have been introduced recently, including the Abbott RealTime High-Risk HPV assay. We sought to compare the performance of Abbott PCR to Hybrid Capture 2 for the detection of HR HPV. METHODS: A total of 941 cervical swab specimens were obtained. We submitted all specimens for HR HPV detection with HC2 and Abbott PCR, and then additionally analyzed discordant and concordant positive results using restriction fragment mass polymorphism (RFMP) genotyping analysis...
September 2016: Annals of Clinical and Laboratory Science
Zhi-Gang Zhang, Jian-Ning Chen, Yu-de Wang, Jin-Tian Gao, Yi Jin
BACKGROUND: The expression of annexin A4 in triple-negative breast cancer (TNBC) remains unclear. In the present study, we investigated the expression of annexin A4 in TNBC tissues, as well as its relationship with clinicopathological and prognostic indicators, with an aim to assess its application value. METHODS: We adopted immunohistochemical and western blot to detect annexin A4 expression in TNBC and para-carcinoma tissues, and to explore the relationship between abnormal expression of annexin A4 and clinicopathological features of TNBC patients...
September 2016: Annals of Clinical and Laboratory Science
Dangen Yu, Fei Lv, Jianhe Zhang, Hongjie Li
BACKGROUND: Stromal cell-derived factor-1 (SDF-1) expression has been reported to be a predictor of poor clinical symptoms in certain types of cancer. Vascular endothelial growth factor (VEGF) is a well-known factor that mediates the micro-angiogenesis of solid tumors, and SDF-1 mediated expression of VEGF may promote tumor growth and metastasis, resulting in poor clinical outcome. Therefore, we explored the expression levels of SDF-1 and VEGF in patients with osteosarcoma in order to determine the association between their expression levels and unfavorable outcomes...
September 2016: Annals of Clinical and Laboratory Science
Jian Wang, Sheng-Min Zhang, Jia-Mian Wu, Zhuo-Cai Lu, Jian-Rong Yang, Hong-Sheng Wu, Hao Chen, Bo Lin, Rong-Hua Xu, Tian-Sheng Cao
BACKGROUND: Mastermind-like transcriptional coactivator 1(MAML1) is a transcriptional coregulator of activators in various signaling pathways. High MAML1 was associated with tumorigenesis, progression, and aggressiveness in various tumors. The role of MAML in Hepatocellular Carcinoma (HCC), however, has not been directly addressed. The present study was to determine its association with clinicopathological characteristics and prognosis of HCC patients. MATERIALS AND METHODS: MAML1 expression at protein level in human HCC and normal liver tissues was detected by immunohistochemistry analysis, which was further validated by high-throughput sequencing data TCGA dataset at mRNA level...
September 2016: Annals of Clinical and Laboratory Science
Asghar Rahmani, Khairollah Asadollahi, Kourosh Soleimannejad, Zahra Khalighi, Yosouf Mohsenzadeh, Ruhollah Hemati, Atefeh Moradkhani, Ghobad Abangah
BACKGROUND: Creatine monohydrate has beneficial effects on serum glucose. This study aimed to investigate the effects of creatine on serum biochemical markers and permeability of coronary arteries among diabetic rats. MATERIAL AND METHODS: 32 Wistar rats, which weighed 150-200 grams were randomly divided into 4 groups including: group I, control; group II, creatine monohydrate; group III, diabetic rats; and group IV, diabetic rats + creatine. Creatine monohydrate was applied by 400 mg/kg/daily for 5 months...
September 2016: Annals of Clinical and Laboratory Science
Jae-Lim Choi, Bo-Ram Kim, Kwang-Sook Woo, Kyeong-Hee Kim, Jeong-Man Kim, Moo-Hyun Kim, Jin-Yeong Han
BACKGROUND: Clopidogrel is a widely used antiplatelet agent for dual antiplatelet therapy and metabolized by CYP2C19. The polymorphism of CYP2C19 is associated with the therapeutic effect of clopidogrel. METHODS: A total of 119 patients diagnosed with acute coronary syndrome (ACS) and underwent percutaneous coronary intervention (PCI) with drug-eluting stents was enrolled. Polymorphisms of CYP2C19 *2,*3,*17 were determined by the Spartan RX CYP2C19 and confirmed by SNP genotyping assay...
September 2016: Annals of Clinical and Laboratory Science
Katarzyna Kowalska, Halina Milnerowicz
The aim of the present study was to examine the influence of age and gender on the pro/antioxidant balance in young healthy subject aged 20-40 years. The individuals were divided into women: aged 20-25 years (group A), aged 32-39 years (group B), and men aged 20-25 years (group C). In blood, the metals, markers of oxidative stress and antioxidants were estimated. The Cu level and Cu/Zn ratio in group B was higher than in group A. There were no differences in metals concentrations between groups A and C. The similar levels of malondialdehyde concentrations and gamma-glutamyl transpeptidase activities were observed in all groups...
September 2016: Annals of Clinical and Laboratory Science
Ginell R Post, Robert C Bell, Anwar Rjoop, Rodolfo Henrich Lobo, Youzhong Yuan, Steven R Post
The objective of the study was to evaluate the expression pattern of interleukin-6 (IL-6) to determine its utility in differentiating Castleman Disease subtypes and reactive lymphadenopathies. Paraffin-embedded tissue blocks from 20 cases referred for assessment of Castleman Disease (CD) and 4 cases of reactive hyperplasia were selected for immunohistochemical staining with an IL-6 antibody. Six pathologists evaluated the hematoxylin and eosin stained tissue sections and IL-6 expression pattern. Of 20 CD referral cases, the pathologic diagnosis was CD in 14 cases and included 6 hyaline-vascular (HV-CD), 6 plasma cell (PC-CD) and 2 "mixed type"-CD cases...
September 2016: Annals of Clinical and Laboratory Science
Song-Sen Su, Su-Li Wang, Liang-Jing Lu, Ling Lin
OBJECTIVE: It has been shown previously that the IL-23 receptor (IL-23R) variants are associated with ankylosing spondylitis (AS). It is unknown whether IL-23R is associated with AS in the Chinese population. The present study was performed to examine the association of IL-23R gene polymorphisms with susceptibility to AS in the Chinese population. METHODS: A total of 157 Chinese Han patients with AS and 150 ethnically matched healthy controls were enrolled. All patients were diagnosed with AS according to the modified New York criteria...
September 2016: Annals of Clinical and Laboratory Science
Haruhisa Nishi, Amir Pelleg, Edward S Schulman
BACKGROUND: Mast cells derived from human lungs (HLMCs) express multiple G-protein coupled purinergic receptors (P2YR) and the so-called α-ketoglutarate receptor GPR99, which is homologous to P2YR. The role of the P2YR of HLMC is not clear. Thus, the aim of the present study was to determine the effects of purinergic and purine-related compounds on allergic histamine release (HR) in HLMCs. METHODS: FcεRI-mediated HR was quantified in primary culture of HLMC (cHLMC)...
September 2016: Annals of Clinical and Laboratory Science
Xiaochun Peng, Dawei Zhou, Xianwang Wang, Zhifan Hu, Yan Yan, Jiangrong Huang
This study was to examine the inhibitory effect of matrine on the proliferation and metastasis of gastric cancer cells, and to explore the possible mechanisms involved in these processes. MTT was used to evaluate the proliferation ability of SGC7901 cells. A two and three-dimensional cell migration assay were performed to determine the effect of matrine on the migration of SGC7901 cells. Then, the changes of the uPA protein and other possible signal molecules were detected by western blot. We found that the proliferation ability of SGC 7901 cells was suppressed by matrine (p<0...
September 2016: Annals of Clinical and Laboratory Science
Xiaofang Huang, Wei Zhou, Shifang Ding
OBJECTIVE: To explore the effect of Smad4 on the extracellular matrix remodeling in ventilator-induced lung injury (VILI). METHODS: We randomized 24 C57BL/6 mice to 4 groups for treatment (n=6/group): control, ventilation, non-targeted (scramble) lentivirus transfection plus ventilation, and Smad4 small interfering RNA (siRNA) lentivirus transfection plus ventilation. Lentivirus was delivered by intranasal instillation. Four weeks later, the 3 ventilated groups underwent high tidal volume (VT 40mL/kg) ventilation to induce lung injury...
September 2016: Annals of Clinical and Laboratory Science
Adriana Handra-Luca
No abstract text is available yet for this article.
July 2016: Annals of Clinical and Laboratory Science
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