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https://www.readbyqxmd.com/read/28743110/clinical-endocrine-and-molecular-genetic-analysis-of-a-large-cohort-of-saudi-arabian-patients-with-laron-syndrome
#1
Abdullah A Al-Ashwal, Afaf Al-Sagheir, Khushnooda Ramzan, Mohammed Al-Owain, Rabab Allam, Alya Qari, Nouf S Al-Numair, Faiqa Imtiaz
BACKGROUND/AIMS: Laron syndrome (LS) is an autosomal recessive disease characterized by marked short stature and very low serum IGF-1 and IGFBP-3 levels. This study assessed the clinical and endocrine features alongside determining the growth hormone receptor gene (GHR) mutation in Saudi Arabian patients with LS in order to establish whether or not a genotype/phenotype correlation is evident in this large cohort. SUBJECTS AND METHODS: A total of 40 Saudi Arabian patients with a suspected diagnosis of LS were recruited and subjected to a full clinical and endocrine investigation together with direct sequencing of the coding regions of the GHR gene...
July 25, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28743061/circulating-ctrp9-levels-are-increased-in-patients-with-newly-diagnosed-type-2-diabetes-and-correlated-with-insulin-resistance
#2
Yanjun Jia, Xiaohe Luo, Ying Ji, Jingwen Xie, Han Jiang, Mao Fu, Xiaoqiang Li
AIMS: C1q/TNF-related protein-9 (CTRP9) is a novel adipokine that has been shown to promote lipid metabolism, enhance insulin sensitivity and protect against cardiovascular disease. However, previous studies in humans have produced controversial results regarding the association between CTRP9 and insulin resistance. The objective of this study was to evaluate the relationships between CTRP9 and insulin resistance in Chinese population. METHODS: Subjects with normal glucose tolerance (NGT, n=108), impaired glucose tolerance (IGT, n=92), and newly diagnosed type 2 diabetes mellitus (nT2DM, n=106) were recruited to determining the circulating CTRP9 and adiponectin levels by enzyme linked immunosorbent assay...
July 8, 2017: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/28743043/neurotrophy-and-immunomodulation-of-induced-neural-stem-cell-grafts-in-a-mouse-model-of-closed-head-injury
#3
Mou Gao, Hui Yao, Qin Dong, Yan Zhang, Yang Yang, Yihua Zhang, Zhijun Yang, Minhui Xu, Ruxiang Xu
Closed head injury (CHI) usually results in severe and permanent neurological impairments, which are caused by several intertwined phenomena, such as cerebral edema, blood-brain barrier (BBB) disruption, neuronal loss, astroglial scarring and inflammation. We previously reported that induced neural stem cells (iNSCs), similar to neural stem cells (NSCs), can accelerate neurological recovery in vivo and produce neurotrophic factors in vitro. However, the effects of iNSC neurotrophy following CHI were not determined...
July 18, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28742635/long-exercise-test-in-the-interattack-period-of-periodic-paralysis-a-useful-and-sensitive-diagnostic-tool
#4
Jiaoting Jin, Fangfang Hu, Min Li, Suhang Shang, Xing Qin, Hongmei Cao, Jingxia Dang
PURPOSE: The reference values of long exercise test are inconsistent in previous studies. Our research aims to determine the reference values and improve diagnostic efficiency of long exercise test in periodic paralysis. METHODS: In this study, 100 healthy controls, 35 non-periodic paralysis patients, and 47 patients with periodic paralysis were recruited. The procedures of long exercise test were conducted following McMannis(1986) method. RESULTS: The decrease rate in compound muscle action potential amplitudes was correlated with gender, and it was not influenced by age, height, weight, and exercise...
July 24, 2017: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/28742627/measurement-error-of-a-simplified-protocol-for-quantitative-sensory-tests-in-chronic-pain-patients
#5
Monika Müller, José Alberto Biurrun Manresa, Andreas Limacher, Konrad Streitberger, Peter Jüni, Ole Kæseler Andersen, Michele Curatolo
BACKGROUND AND OBJECTIVES: Large-scale application of Quantitative Sensory Tests (QST) is impaired by lacking standardized testing protocols. One unclear methodological aspect is the number of records needed to minimize measurement error. Traditionally, measurements are repeated 3 to 5 times, and their mean value is considered. When transferring QST to a clinical setting, reducing the number of records would be desirable to meet the time constraints encountered in a routine clinical environment and to reduce the testing burden to chronic pain patients...
July 24, 2017: Regional Anesthesia and Pain Medicine
https://www.readbyqxmd.com/read/28742417/mica-129met-val-polymorphism-is-associated-with-early-onset-breast-cancer-risk
#6
Nesrine Ouni, Arij Ben Chaaben, Ghalia Kablouti, Mohamed Lajnef, Fayza Ayari, Hajer Abaza, Tarek Damak, Latifa Harzallah, Amel Benammar-Elgaaeid, Fethi Guemira, Ryad Tamouza
The major histocompatibility complex class I-related chain A (MICA), expressed on cell surface, plays an important role in the elimination of both virus-infected cells and tumor through the activation of the natural killer (NK) receptor NKG2D. A polymorphic change from methionine (Met) to valine (Val) at amino acid position 129 categorizes MICA alleles into strong and weak binders for the NKG2D receptor and has been found in a variety of immune-related disorders. In this study, we investigated the potential interaction between genetic polymorphism of MICA and the development of breast cancer...
July 25, 2017: Immunological Investigations
https://www.readbyqxmd.com/read/28742407/tlr5-polymorphisms-rs2072493-rs5744174-and-rs5744168-are-not-genetic-risk-factors-for-chronic-helicobacter-pylori-infection-in-indian-tamils
#7
Vaishnavi Goda, Megala Jayaraman, Rekha Loganathan, Mehnaz Nazeer, Mohammed Ali, Premkumar Karunakaran, Panneer Devaraju
The incidence of Helicobacter pylori (H. pylori) infection and gastric cancer is on the rise in India, and the genetic factors influencing the increased susceptibility in Indian population remain obscure. Toll-like receptors (TLRs) play a major role in innate immune system and genetic polymorphisms affecting their function were reported to enhance the risk for H. pylori infection. Seventy-seven patients (n = 77) diagnosed with H. pylori infection and 230 healthy subjects were recruited in this study. The rs2072493, rs5744174, and rs5744168 polymorphisms within TLR5 gene were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and Tetra-ARMS PCR genotyping techniques...
July 25, 2017: Immunological Investigations
https://www.readbyqxmd.com/read/28742243/data-privacy-management-and-data-quality-monitoring-in-the-german-centre-for-cardiovascular-research-s-multicentre-translational-registry-for-cardiomyopathies-dzhk-torch
#8
Thea Schwaneberg, Kerstin Weitmann, Andreas Dösch, Claudia Seyler, Thomas Bahls, Lars Geidel, Dana Stahl, Mahsa Lee, Monika Kraus, Hugo A Katus, Wolfgang Hoffmann
AIMS: The multicentric TranslatiOnal Registry for CardiomyopatHies (TORCH) of the German Centre for Cardiovascular Research aims to recruit 2300 patients with non-ischemic cardiomyopthies. METHODS AND RESULTS: The investigations were performed after standard operating procedures. The data are collected in standardized electronic case report forms provided by the data holding of the central data management of the German Centre for Cardiovascular Research using secuTrial (interActive Systems GmbH, Berlin, Germany)...
July 18, 2017: ESC Heart Failure
https://www.readbyqxmd.com/read/28742193/relationship-between-il-1%C3%AE-polymorphisms-and-obstructive-sleep-apnea-syndrome
#9
T-Y Tang, X-X Zhou, H Huang, Q-D Huang
OBJECTIVE: To explore the relationship between obstructive sleep apnea syndrome (OSAS) and polymorphism in the IL-1β gene. PATIENTS AND METHODS: We recruited 164 OSAS patients to the observation group and 146 healthy people to the control group during the same period. Using RFLP (Restriction Fragment Length Polymorphism), we detected higher G/G and C/C rates on locus 154 of the IL-1β gene in the OSAS patients compared with the control group. RESULTS: Quantitative fluorescence PCR results showed no significant differences in the mRNA expression between the OSAS patients and the healthy people...
July 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/28742087/type-1-skewed-neuroinflammation-and-vascular-damage-associated-with-orientia-tsutsugamushi-infection-in-mice
#10
Lynn Soong, HeThomas R Shelite, Yan Xing, Harica Kodakandla, Yuejin Liang, Brandon J Trent, Paulina Horton, Kathryn C Smith, Zhenyang Zhao, Jiaren Sun, Donald H Bouyer, Jiyang Cai
BACKGROUND: Scrub typhus is a life-threatening disease, due to infection with O. tsutsugamushi, a Gram-negative bacterium that preferentially replicates in endothelial cells and professional phagocytes. Meningoencephalitis has been reported in scrub typhus patients and experimentally-infected animals; however, the neurological manifestation and its underlying mechanisms remain poorly understood. To address this issue, we focused on Orientia tsutsugamushi Karp strain (OtK), and examined host responses in the brain during lethal versus self-healing scrub typhus disease in our newly established murine models...
July 24, 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28741987/multimodal-characterization-of-gray-matter-alterations-in-neuromyelitis-optica
#11
Yaou Liu, Xueyan Jiang, Helmut Butzkueven, Yunyun Duan, Jing Huang, Zhuoqiong Ren, Huiqing Dong, Fu-Dong Shi, Frederik Barkhof, Kuncheng Li, Jinhui Wang
OBJECTIVE: To investigate structural and functional alterations of gray matter (GM) and examine their clinical relevance in neuromyelitis optica (NMO) using multimodal magnetic resonance imaging (MRI) techniques. METHODS: A total of 35 NMO and 36 healthy controls (HC) were recruited in this study. Cortical lesions were investigated by double inversion recovery technique. Five voxel-wise MRI measurements were obtained for each participant in the GM including gray matter volume (GMV), fractional anisotropy (FA), mean diffusivity (MD), amplitude of low-frequency fluctuation (ALFF), and weighted functional connectivity strength (wFCS)...
July 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28741852/polymorphisms-of-mir-146a-mir-149-mir-196a2-and-mir-499-are-associated-with-osteoporotic-vertebral-compression-fractures-in-korean-postmenopausal-women
#12
Tae-Keun Ahn, Jung-Oh Kim, Hemant Kumar, Hyemi Choi, Min-Jae Jo, Seil Sohn, Alexander E Ropper, Nam-Keun Kim, In-Bo Han
Genetic factors have been shown to be a small but significant predictor for osteoporosis and osteoporotic fracture risk. We performed a case-control association study to determine the association between miR-146a, miR-149, miR-196a2 and miR-499 polymorphisms and osteoporotic vertebral compression fracture (OVCF) susceptibility. In total, 286 unrelated postmenopausal Korean women (57 with OVCFs, 55 with non-OVCFs, and 174 healthy controls) were recruited. All subjects underwent dual energy X-ray absorptiometry to determine BMD at the lumbar spine and femoral neck...
July 25, 2017: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
https://www.readbyqxmd.com/read/28741807/il-17a-polymorphism-and-elevated-il-17a-serum-levels-are-associated-with-oral-lichen-planus
#13
Luiz Alcino Gueiros, Telma Arão, Thayse Souza, Camila Lins Vieira, Ricardo Santiago Gomez, Oslei Paes de Almeida, Giovani Lodi, Jair Carneiro Leão
OBJECTIVE: The aim of this study was to evaluate the association of IL-17A G197A polymorphism and serum levels with oral lichen planus susceptibility and clinical presentation. SUBJECTS AND METHODS: Eighty three individuals diagnosed with oral lichen planus (OLP) and ninety nine healthy controls (C) were consecutively recruited. All participants had desquamating oral mucosal cells collected and DNA isolated for IL-17A (G197A) genotyping. Blood samples of 42 OLP individuals and 23 healthy controls were collected for evaluation of IL-17A serum levels...
July 25, 2017: Oral Diseases
https://www.readbyqxmd.com/read/28741744/thermal-suit-in-preventing-unintentional-intraoperative-hypothermia-during-general-anaesthesia-a-randomized-controlled-trial
#14
S-L Lauronen, M-L Kalliomäki, A J Aho, J Kalliovalkama, J M Riikonen, M-T Mäkinen, H M Leppikangas, A M Yli-Hankala
BACKGROUND: Unintentional perioperative hypothermia causes serious adverse effects to surgical patients. Thermal suit (T-Balance(®) ) is an option for passive warming perioperatively. We hypothesized that the thermal suit will not maintain normothermia more efficiently than conventional cotton clothes when also other preventive procedures against unintentional hypothermia are used. METHODS: One hundred patients were recruited to this prospective, randomized trial...
July 25, 2017: Acta Anaesthesiologica Scandinavica
https://www.readbyqxmd.com/read/28741401/trans-diagnostic-comparison-of-response-inhibition-in-tourette-s-disorder-and-obsessive-compulsive-disorder
#15
Siyan Fan, Danielle C Cath, Ysbrand D van der Werf, Stella de Wit, Dick J Veltman, Odile A van den Heuvel
OBJECTIVES: Impaired response inhibition is related to neurodevelopmental disorders, such as Tourette's disorder (TD) and obsessive-compulsive disorder (OCD). Unlike OCD, in which neural correlates of response inhibition have been extensively studied, TD literature is limited. By using a Stop-Signal task, we investigated the neural mechanisms underlying response inhibition deficits in TD compared to OCD and healthy controls (HCs). METHODS: Twenty-three TD patients, 20 OCD patients and 22 HCs were scanned (3T MRI)...
July 25, 2017: World Journal of Biological Psychiatry
https://www.readbyqxmd.com/read/28741328/-short-term-results-of-weils-osteotomy-in-patients-with-propulsive-metatarsalgia
#16
J C Hernández-Martínez, J Vázquez-Escamilla, M Coronado-Puente
INTRODUCTION: Metatarsalgia is the most common reason for consultation in orthopedic pathology of the foot. The key to its treatment lies in the correct determination of the symptoms, which are biological, morphological and mechanical alterations responsible for pain. Weil´s osteotomy is commonly used for multiple forefoot pathologies, including metatarsalgias. MATERIAL AND METHODS: We included patients with first-line failure syndrome and associated mechanical metatarsalgia-producing deformities...
January 2017: Acta Ortopédica Mexicana
https://www.readbyqxmd.com/read/28741175/a-randomized-phase-ii-trial-of-geriatric-assessment-and-management-for-older-cancer-patients
#17
Martine T E Puts, Schroder Sattar, Michael Kulik, Mary Ellen MacDonald, Kara McWatters, Katherine Lee, Sarah Brennenstuhl, Raymond Jang, Eitan Amir, Monika K Krzyzanowska, Anthony M Joshua, Johanne Monette, Doreen Wan-Chow-Wah, Shabbir M H Alibhai
PURPOSE: Geriatric assessment and management (GAM) can identify current health issues and recommend interventions to optimize well-being of older adults, but no randomized trial has yet been completed in oncology. Therefore, a randomized phase 2 trial was conducted. METHODS: A two-group parallel single-blinded randomized phase II trial ( ClinicalTrials.gov Identifier: NCT02222259) enrolled patients aged ≥70 years, diagnosed with stage 2-4 gastrointestinal, genitourinary, or breast cancer within 6 weeks of commencing chemotherapy at Princess Margaret Cancer Centre...
July 25, 2017: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
https://www.readbyqxmd.com/read/28741087/the-performance-of-different-anti-dsdna-autoantibodies-assays-in-chinese-systemic-lupus-erythematosus-patients
#18
Jiangfeng Zhao, Kaiwen Wang, Xiaodong Wang, Ting Li, Li Guo, Liyang Gu, Zhiwei Chen, Fangfang Sun, Haiting Wang, Jiajie Li, Jiaxian Huang, Peng Zhang, Yang Tang, Shuang Ye
To compare the performance of different commercial anti-dsDNA autoantibody assays, including multiplex-based immunoassay (Bio-Plex), Farr radioimmunoassay (Farr), ELISA, chemiluminescent immunoassay (CLIA), and Crithidia Luciliae indirect immunofluorescence test (CLIFT) in Chinese patients with systemic lupus erythematosus (SLE). SLE patients (n = 119) as well as healthy controls (n = 200) and disease controls (n = 100) were recruited, and serum anti-dsDNA autoantibodies were detected by Bio-Plex, Farr, two ELISA assays (Medical & Biological Laboratories-ELISA, EUROIMMU-ELISA), CLIA, and a standard CLIFT...
July 25, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28741061/treatment-of-uncomplicated-recurrent-urinary-tract-infection-with-chinese-medicine-formula-a-randomized-controlled-trial
#19
Shi-Wei Liu, Jie Guo, Wei-Kang Wu, Ze-Liang Chen, Ning Zhang
OBJECTIVE: To evaluate Chinese medicine (CM) formula Bazheng Powder () as an alternative therapeutic option for female patients with recurrent urinary tract infection (RUTI). METHODS: A randomized double-blinded trial was performed. Eligible female patients with RUTI were recruited from one hospital and two community health centers. By using a blocked randomization scheme, participants were randomized to receive a CM formula (10 herbs) for 4 weeks or antibiotics for 1 week, followed by 3 weeks of placebo...
July 25, 2017: Chinese Journal of Integrative Medicine
https://www.readbyqxmd.com/read/28741060/efficacy-of-modified-wuzhuyu-decoction-granule-for-migraine-patients-with-cold-and-stasis-obstructing-meridian-syndrome-a-randomized-double-blind-placebo-controlled-trial
#20
Hong-Wei Liu, Yi-Huai Zou, Ke-Gang Cao, Li-Hua Yu, Yong Zhang, Cai-Hong Fu, Da-Yong Ma
OBJECTIVE: To study the efficacy of modified Wuzhuyu Decoction Granule (, MWDG) in the treatment of migraine patients with cold and stasis obstructing meridian syndrome. METHODS: This study was a randomized, double-blind, placebo-controlled trial. A total of 78 migraine patients with cold and stasis obstructing meridian syndrome were recruited and randomly assigned by a ratio of 2:1 into a treatment group (51 cases) and a placebo group (27 cases). Patients in the treatment group were treated with MWDG while placebo granules were applied in the control group...
July 25, 2017: Chinese Journal of Integrative Medicine
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