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https://www.readbyqxmd.com/read/30497413/identification-of-novel-compound-heterozygous-spg7-mutations-related-hereditary-spastic-paraplegia-in-a-chinese-family-a-case-report
#1
Xiaoqian Zhang, Lei Zhang, Yanqing Wu, Gang Li, Shengcai Chen, Yuanpeng Xia, Hongge Li
BACKGROUND: Autosomal recessive hereditary spastic paraplegias (ARHSPs) are a group of clinically and genetically heterogeneous neurodegenerative diseases with progressive spasticity and weakness in the lower limbs. Mutations in the Spastic Paraplegia gene 7 (SPG7) account for about 5-21% of ARHSP cases. However, in Asians, few reports about the mutations exist. In this study, we firstly report a novel finding from a Chinese family with compound heterozygous SPG7 mutations, in which three siblings were affected with a complicated form of ARHSP...
November 29, 2018: BMC Neurology
https://www.readbyqxmd.com/read/30479837/multilevel-critical-stenosis-with-minimal-functional-deficits-a-case-of-cervical-spondylotic-myelopathy
#2
Anup K Gangavalli, Ajith Malige, Gbolabo Sokunbi
Introduction: We present a case of a previously asymptomatic and highly functional individual whose critical degenerative stenosis was exacerbated by recent trauma (motor vehicle accident), resulting in cervical spondylotic myelopathy. Case presentation: A 57-year-old African-American man with no significant past medical history presented to the Orthopaedic Surgery outpatient clinic with mild neck discomfort, stiffness, and bilateral hand numbness 4 days after being involved in a motor vehicle accident...
2018: Spinal Cord Series and Cases
https://www.readbyqxmd.com/read/30415924/interleukin-17-drives-interstitial-entrapment-of-tissue-lipoproteins-in-experimental-psoriasis
#3
Li-Hao Huang, Bernd H Zinselmeyer, Chih-Hao Chang, Brian T Saunders, Andrew Elvington, Osamu Baba, Thomas J Broekelmann, Lina Qi, Joseph S Rueve, Melody A Swartz, Brian S Kim, Robert P Mecham, Helge Wiig, Michael J Thomas, Mary G Sorci-Thomas, Gwendalyn J Randolph
Lipoproteins trapped in arteries drive atherosclerosis. Extravascular low-density lipoprotein undergoes receptor uptake, whereas high-density lipoprotein (HDL) interacts with cells to acquire cholesterol and then recirculates to plasma. We developed photoactivatable apoA-I to understand how HDL passage through tissue is regulated. We focused on skin and arteries of healthy mice versus those with psoriasis, which carries cardiovascular risk in man. Our findings suggest that psoriasis-affected skin lesions program interleukin-17-producing T cells in draining lymph nodes to home to distal skin and later to arteries...
November 5, 2018: Cell Metabolism
https://www.readbyqxmd.com/read/30407336/vertigo-caused-by-longus-colli-tendonitis-a-case-report-and-literature-review
#4
REVIEW
Yifeng Shen, Qiaoyin Zhou, Xinyue Zhu, Zuyun Qiu, Yan Jia, Zixiang Liu, Shiliang Li
RATIONALE: Tendinitis of the longus colli muscle is an aseptic inflammatory process leading to acute posterior neck pain, neck stiffness, and dysphagia or odynophagia. We present a patient exhibiting an infrequent symptom, vertigo. This is the first description of the occurrence of vertigo symptoms caused by longus colli tendinitis. PATIENT CONCERNS: A 38-year-old man was diagnosed with vertigo, presenting with a 1-month history of dizziness, palpitations, and numbness in the hands...
November 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/30352484/quantitative-assessment-of-liver-stiffness-using-ultrasound-shear-wave-elastography-in-patients-with-chronic-graft-versus-host-disease-after-allogeneic-hematopoietic-stem-cell-transplantation-a-pilot-study
#5
Man Zhang, Mishal Mendiratta-Lala, Katherine E Maturen, Ashish P Wasnik, Sherry S Wang, Hadeel Assad, Jonathan M Rubin
OBJECTIVES: The purpose of this study was to compare hepatic stiffness on ultrasound (US) shear wave elastography (SWE) in patients with chronic graft-versus-host disease (GVHD) after allogeneic hematopoietic stem cell transplantation versus patients with no underlying liver disease. METHODS: We performed a retrospective analysis of 4901 patients who underwent abdominal US examinations with adjunctive liver SWE between August 2014 and December 2016. Each patient was scanned supine with gentle breath holding on LOGIQ E9 (GE Healthcare, Waukesha, WI) or Epiq (Philips Healthcare, Andover, MA) US machines (3-6 MHz)...
October 23, 2018: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/30342780/quantitative-elastography-of-rectal-lesions-the-value-ofshear-wave-elastography-in-identifying-benign-and-malignant-rectal-lesions
#6
Tingting Li, Man Lu, Yuan Li, Juan Li, Ziyue Hu, Xu Li, Xueqing Cheng, Jingzhen Jiang, Bo Tan
We evaluate the value of shear wave elastography (SWE) in diagnosing benign and malignant rectal lesions. A total of 96 lesions were reviewed in this study; endorectal ultrasound (ERUS) and SWE examinations were performed before surgery in all cases. Elasticity parameters including mean elastographic index (Emean ), maximum elastographic index (Emax ) and minimum elastographic index (Emin ) were analyzed. Correlations between elastographic parameters and histopathological results were studied. Inter-observer and intra-observer agreement was analyzed...
October 17, 2018: Ultrasound in Medicine & Biology
https://www.readbyqxmd.com/read/30305979/augmentation-of-a-locking-plate-system-using-bioactive-bone-cement-experiment-in-a-proximal-humeral-fracture-model
#7
Guan-Ming Kuang, Tak Man Wong, Jun Wu, Jun Ouyang, Haihua Guo, Yapeng Zhou, Christian Fang, Frankie K L Leung, William Lu
Introduction: The purpose of this study was to test whether local filling of a novel strontium-containing hydroxyapatite (Sr-HA) bone cement can augment the fixation of a locking plate system in a cadaveric proximal humeral facture model. Materials and Methods: Twelve pairs of formalin-treated cadaveric humeri were used. One side in each pair was for cemented group, while the other side was for the control group. The bone mineral density (BMD) of the samples was tested...
2018: Geriatric Orthopaedic Surgery & Rehabilitation
https://www.readbyqxmd.com/read/30284065/effect-of-an-egg-ovalbumin-derived-protein-hydrolysate-on-blood-pressure-and-cardiovascular-risk-in-adults-with-a-mildly-elevated-blood-pressure-a-randomized-placebo-controlled-crossover-trial
#8
Alice J Lucey, Clara Heneghan, Edmund Manning, Paul A Kroon, Máiréad E Kiely
PURPOSE: While animal and in vitro data demonstrate vasodilatory effects of egg white-derived peptides, human studies are lacking. We investigated for the first time the effects of an egg ovalbumin-derived protein hydrolysate on blood pressure (BP) and cardiovascular risk. METHODS: A double-blind, placebo-controlled randomized crossover trial was implemented in 75 adults aged 50-70 years with systolic BP (130-≤ 150 mmHg). Participants were randomized to an egg ovalbumin-derived protein hydrolysate (3 g/day) or placebo (3 g/day)...
October 3, 2018: European Journal of Nutrition
https://www.readbyqxmd.com/read/30283322/effects-of-long-term-treatment-with-t-pemf-on-forearm-muscle-activation-and-motor-function-in-parkinson-s-disease
#9
Bente Rona Jensen, Anne Sofie Bøgh Malling, Bo Mohr Morberg, Ole Gredal, Per Bech, Lene Wermuth
Bipolar pulsed electromagnetic stimulation applied to the brain (T-PEMF) is a non-pharmacological treatment which has been shown to stimulate nerve growth, attenuate nerve abnormalities, and improve microcirculation. We report on a 62-year-old, medically well-treated man with idiopathic Parkinson's disease. He was treated with T-PEMF, 30 min per day for three 8-week periods separated by two 1-week breaks. The disease made his handwriting impossible to read mainly due to small letters and lack of fluency. Forearm EMG measured during standardized conditions showed an involuntary spiky EMG pattern with regular burst activity (on his left side) at baseline...
May 2018: Case Reports in Neurology
https://www.readbyqxmd.com/read/30243293/a-case-report-autosomal-recessive-myotonia-congenita-caused-by-a-novel-splice-mutation-c-1401-1g-a-in-clcn1-gene-of-a-chinese-han-patient
#10
Jing Miao, Xiao-Jing Wei, Xue-Mei Liu, Zhi-Xia Kang, Yan-Lu Gao, Xue-Fan Yu
BACKGROUND: Autosomal recessive Myotonia congenita (Becker's disease) is caused by mutations in the CLCN1 gene. The condition is characterized by muscle stiffness during sustained muscle contraction and variable degree of muscle weakness that tends to improve with repeated contractions. CASE PRESENTATION: A 21-year-old man presented with transient muscle stiffness since the last 10 years. He had difficulty in initiating movement and experienced muscle weakness after rest, which typically improved after repeated contraction (warm-up phenomenon)...
September 22, 2018: BMC Neurology
https://www.readbyqxmd.com/read/30196155/range-of-normal-liver-stiffness-and-factors-associated-with-increased-stiffness-measurements-in-apparently-healthy-individuals
#11
REVIEW
Fateh Bazerbachi, Samir Haffar, Zhen Wang, Joaquín Cabezas González, Maria Teresa Arias-Loste, Javier Crespo, Sarwa Darwish-Murad, M Arfan Ikram, John K Olynyk, Eng Gan, Salvatore Petta, Alessandra Berzuini, Daniele Prati, Victor de Lédinghen, Vincent Wai-Sun Wong, Paolo Del Poggio, Norberto C Chávez-Tapia, Yong-Peng Chen, Pin-Nan Cheng, Man-Fung Yuen, Kausik Das, Abhijit Chowdhury, Llorenç Caballeria, Núria Fabrellas, Pere Ginès, Manoj Kumar, Shiv Kumar Sarin, Fabio Conti, Pietro Andreone, Roxana Sirli, Helena Cortez-Pinto, Sofia Carvalhana, Takaaki Sugihara, Seung Up Kim, Pathik Parikh, Kazuaki Chayama, Christophe Corpechot, Kang Mo Kim, George Papatheodoridis, Ayman Alsebaey, Patrick S Kamath, M Hassan Murad, Kymberly D Watt
BACKGROUND & AIMS: Transient elastography (TE) is a noninvasive technique used to measure liver stiffness to estimate the severity of fibrosis. The range of liver stiffness measurements (LSMs) in healthy individuals is unclear. We performed a systematic review to determine the range of LSMs, examined by TE, in healthy individuals and individuals who are susceptible to fibrosis. METHODS: We collected data from 16,082 individuals, in 26 cohorts, identified from systematic searches of Embase, Ovid MEDLINE, Cochrane Central Register of Controlled Trials, and Cochrane Database of Systematic Reviews for studies of liver stiffness measurements...
September 7, 2018: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/30001929/novel-mutations-in-hint1-gene-cause-autosomal-recessive-axonal-neuropathy-with-neuromyotonia-in-two-cases-of-sensorimotor-neuropathy-and-one-case-of-motor-neuropathy
#12
Lingchao Meng, Jun Fu, He Lv, Wei Zhang, Zhaoxia Wang, Yun Yuan
Autosomal recessive axonal neuropathy with neuromyotonia (ARANNM) is a rare disease caused by mutations of histidine triad nucleotide binding protein 1 (HINT1) gene. ARANNM has been reported mainly in European countries but little reported so far in China. We describe novel mutations of HINT1 in three Chinese patients with ARANNM from unrelated families. Patient 1 was a 14-year-old girl who presented with progressive distal weakness of upper limbs at two years of age. After that, she reported weakness of both feet, and difficulty in muscle relaxation after making a fist...
August 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29990295/a-case-of-synthetic-cannabinoid-poisoning-in-croatia
#13
Davorka Sutlović, Ingrid Prkačin, Fabio Vaiano, Elisabetta Bertol, Maja Veršić Bratinčević, Marija Definis-Gojanović
The number of new psychoactive substances (NPS), synthetic cannabinoids (SCs) in particular, is growing constantly. Because of the insufficiently explored effects on consumer health, they have become a major problem in the emergency departments. They are difficult to identify, and there are no antidotes that could reverse their detrimental effects. We report a case of poisoning of a young man who used SCs. The patient was admitted to the emergency department of the Clinical Hospital Merkur, Zagreb (Croatia) after sniffing and smoking a herbal product bought on the street...
June 1, 2018: Arhiv za Higijenu Rada i Toksikologiju
https://www.readbyqxmd.com/read/29938290/hydrodynamics-of-shape-driven-rigidity-transitions-in-motile-tissues
#14
Michael Czajkowski, Dapeng Bi, M Lisa Manning, M Cristina Marchetti
In biological tissues, it is now well-understood that mechanical cues are a powerful mechanism for pattern regulation. While much work has focused on interactions between cells and external substrates, recent experiments suggest that cell polarization and motility might be governed by the internal shear stiffness of nearby tissue, deemed "plithotaxis". Meanwhile, other work has demonstrated that there is a direct relationship between cell shapes and tissue shear modulus in confluent tissues. Joining these two ideas, we develop a hydrodynamic model that couples cell shape, and therefore tissue stiffness, to cell motility and polarization...
July 11, 2018: Soft Matter
https://www.readbyqxmd.com/read/29890010/repeating-measurements-by-transient-elastography-in-non-alcoholic-fatty-liver-disease-patients-with-high-liver-stiffness
#15
Jeremy Chak-Lun Chow, Grace Lai-Hung Wong, Anthony Wing-Hung Chan, Sally She-Ting Shu, Carmen Ka-Man Chan, Julie Ka-Yu Leung, Paul Cheung-Lung Choi, Angel Mei-Ling Chim, Henry Lik-Yuen Chan, Vincent Wai-Sun Wong
BACKGROUND AND AIM: The Baveno VI Consensus recommends repeating examination in patients with high liver stiffness measurement (LSM) by transient elastography to reduce false-positive diagnosis of advanced liver disease. We tested whether repeating transient elastography can increase the overall diagnostic accuracy. METHODS: Ninety-seven patients with non-alcoholic fatty liver disease who underwent two FibroScan examinations within 6 months prior to liver biopsy were evaluated...
June 11, 2018: Journal of Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/29880186/successful-treatment-of-maternal-listeria-monocytogenes-bacteremia-in-the-first-trimester-of-pregnancy-a-case-report-and-literature-review
#16
REVIEW
Lai-Man Chan, Ho-Hsiung Lin, Sheng-Mou Hsiao
OBJECTIVE: To report detailed clinical history and management of maternal listeria infection in the first trimester. CASE REPORT: A 34-year-old woman at 11 gestational weeks was infected by Listeria monocytogenes with clinical symptoms of acute onset of a fever with subsequent headache and neck stiffness, and was treated with intravenous ampicillin at 2 g every 4 h for 3 weeks. A healthy, unaffected male baby was delivered at term. Histopathologic examination of the placenta did not reveal any chorioamnionitis, granulomas, microabscesses or vasculitis...
June 2018: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29874622/collective-cell-behavior-in-mechanosensing-of-substrate-thickness
#17
Camelia G Tusan, Yu-Hin Man, Hoda Zarkoob, David A Johnston, Orestis G Andriotis, Philipp J Thurner, Shoufeng Yang, Edward A Sander, Eileen Gentleman, Bram G Sengers, Nicholas D Evans
Extracellular matrix stiffness has a profound effect on the behavior of many cell types. Adherent cells apply contractile forces to the material on which they adhere and sense the resistance of the material to deformation-its stiffness. This is dependent on both the elastic modulus and the thickness of the material, with the corollary that single cells are able to sense underlying stiff materials through soft hydrogel materials at low (<10 μm) thicknesses. Here, we hypothesized that cohesive colonies of cells exert more force and create more hydrogel deformation than single cells, therefore enabling them to mechanosense more deeply into underlying materials than single cells...
June 5, 2018: Biophysical Journal
https://www.readbyqxmd.com/read/29803393/usefulness-of-new-subtraction-algorithm-in-estimating-degree-of-liver-fibrosis-by-calculating-extracellular-volume-fraction-obtained-from-routine-liver-ct-protocol-equilibrium-phase-data-preliminary-experience
#18
Yoshinobu Shinagawa, Keiko Sakamoto, Keisuke Sato, Emi Ito, Hiroshi Urakawa, Kengo Yoshimitsu
OBJECTIVES: To assess whether extracellular volume fraction (ECV) obtained from routine liver CT equilibrium phase data utilizing new subtraction algorithm is useful in estimating the degree of liver fibrosis. MATERIALS AND METHODS: Consecutive 41 patients, 21 men and 20 women, with chronic liver diseases who underwent quadri-phase liver CT and MR elastography within 3 months were retrospectively enrolled. Subtraction image of unenhanced from equilibrium phase (240 s) images using conventional and new algorithms were made...
June 2018: European Journal of Radiology
https://www.readbyqxmd.com/read/29799025/hepatitis-transactivator-protein-x-promotes-extracellular-matrix-modification-through-hif-lox-pathway-in-liver-cancer
#19
Aki Pui-Wah Tse, Karen Man-Fong Sze, Queenie Tsung-Kwan Shea, Elley Yung-Tuen Chiu, Felice Ho-Ching Tsang, David Kung-Chun Chiu, Misty Shuo Zhang, Derek Lee, Iris Ming-Jing Xu, Cerise Yuen-Ki Chan, Hui-Yu Koh, Chun-Ming Wong, Yong-Ping Zheng, Irene Oi-Lin Ng, Carmen Chak-Lui Wong
Hepatocellular carcinoma (HCC), accounting for 90% of primary liver cancer, is a lethal malignancy that is tightly associated with chronic hepatitis B virus (HBV) infection. HBV encodes a viral onco-protein, transactivator protein X (HBx), which interacts with proteins of hepatocytes to promote oncogenesis. Our current study focused on the interaction of HBx with a transcription factor, hypoxia-inducible factor-1α (HIF-1α), which is stabilized by low O2 condition (hypoxia) and is found to be frequently overexpressed in HCC intra-tumorally due to poor blood perfusion...
May 25, 2018: Oncogenesis
https://www.readbyqxmd.com/read/29789091/spinal-stiffness-in-prone-and-upright-postures-during-0-1-8-g-induced-by-parabolic-flight
#20
Jaap Swanenburg, Michael L Meier, Anke Langenfeld, Petra Schweinhardt, B Kim Humphreys
INTRODUCTION: The purpose of this study was to analyze posterior-to-anterior spinal stiffness in Earth, hyper-, and microgravity conditions during both prone and upright postures. CASE REPORT: During parabolic flight, the spinal stiffness of the L3 vertebra of a healthy 37-yr-old man was measured in normal Earth gravity (1.0 g), hypergravity (1.8 g), and microgravity (0.0 g) conditions induced in the prone and upright positions. Differences in spinal stiffness were significant across all three gravity conditions in the prone and upright positions...
June 1, 2018: Aerospace Medicine and Human Performance
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