keyword
https://read.qxmd.com/read/37843879/associations-between-skeletal-muscle-energetics-and-accelerometry-based-performance-fatigability-study-of-muscle-mobility-and-aging
#1
JOURNAL ARTICLE
Yujia Susanna Qiao, Adam J Santanasto, Paul M Coen, Peggy M Cawthon, Steven R Cummings, Daniel E Forman, Bret H Goodpaster, Jaroslaw Harezlak, Marquis Hawkins, Stephen B Kritchevsky, Barbara J Nicklas, Frederico G S Toledo, Pamela E Toto, Anne B Newman, Nancy W Glynn
Performance fatigability is typically experienced as insufficient energy to complete daily physical tasks, particularly with advancing age, often progressing toward dependency. Thus, understanding the etiology of performance fatigability, especially cellular-level biological mechanisms, may help to delay the onset of mobility disability. We hypothesized that skeletal muscle energetics may be important contributors to performance fatigability. Participants in the Study of Muscle, Mobility and Aging completed a usual-paced 400-m walk wearing a wrist-worn ActiGraph GT9X to derive the Pittsburgh Performance Fatigability Index (PPFI, higher scores = more severe fatigability) that quantifies percent decline in individual cadence-versus-time trajectory from their maximal cadence...
October 16, 2023: Aging Cell
https://read.qxmd.com/read/37840187/-clinical-and-genetic-analysis-of-tyrosine-hydroxylase-deficiency-of-six-cases
#2
JOURNAL ARTICLE
H Zhang, B Zhang, B Zhao, T X Zhang, C P Zhao, Y M Liu, C Z Yan, Y Y Zhao
The clinical and molecular genetic data of 6 patients with genetically confirmed tyrosine hydroxylase deficiency(THD) diagnosed in Department of Neurology, Qilu Hospital of Shandong University from March 2017 to February 2022 were retrospectively collected and analyzed. The 6 patients were from 5 families. Among them, 5 patients had persistent or paroxysmal abnormal walking posture, 4 patients had dystonia of head and face, including spasm of perioral and oculopharyngeal muscles, hyperactivity, and binocular upvision, 4 patients showed obvious morning light and evening heavy phenomenon, 2 patients had postural tremor of limbs, 2 patients had psychomotor retardation from childhood, 1 patient only had limb and cervical muscle weakness, 1 patient had epileptic seizures...
October 24, 2023: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://read.qxmd.com/read/37835021/treatment-and-response-factors-in-muscle-activation-during-spinal-manipulation
#3
JOURNAL ARTICLE
Stuart J Currie, Casey A Myers, Brian A Enebo, Bradley S Davidson
The forces applied during a spinal manipulation produce a neuromuscular response in the paraspinal muscles. A systematic evaluation of the factors involved in producing this muscle activity provides a clinical insight. The purpose of this study is to quantify the effect of treatment factors (manipulation sequence and manipulation site) and response factors (muscle layer, muscle location, and muscle side) on the neuromuscular response to spinal manipulation. The surface and indwelling electromyographies of 8 muscle sites were recorded during lumbar side-lying manipulations in 20 asymptomatic participants...
October 6, 2023: Journal of Clinical Medicine
https://read.qxmd.com/read/37659851/-effect-of-fluid-viscosity-on-the-biomechanical-sequence-of-oropharyngeal-swallowing-in-healthy-males
#4
JOURNAL ARTICLE
Q Li, M X B Yoshitomo, Y H Kazuhiro, Y J Chen, Y G Y Takahiro
Objective: To confirm the effect of fluid with different viscosity on the normal biomechanical sequence of oropharyngeal swallowing in healthy males. Methods: Fifteen healthy male subjects [(27.7±1.8) years old] were recruited from November 2011 to February 2012 and instructed to swallow 15 ml of water (W), nectar-like fluid (N), and honey-like fluid (H) in an upright sitting position. The sensing system was consisted of tongue pressure sensor sheet, bend sensor, surface electrodes and microphone. They were used to monitor tongue pressure, hyoid activity, surface electromyography (EMG) of swallowing-related muscles and swallowing sound, respectively...
September 2, 2023: Zhonghua Kou Qiang Yi Xue za Zhi, Zhonghua Kouqiang Yixue Zazhi, Chinese Journal of Stomatology
https://read.qxmd.com/read/37589161/accelerated-loss-of-lean-body-mass-in-head-and-neck-cancer-patients-during-cisplatin-based-chemoradiation
#5
JOURNAL ARTICLE
Simon Lønbro, Søren Gam, Anne Pernille Hermann, Christian Rønn Hansen, Jørgen Johansen
BACKGROUND: This study investigated changes in body weight, lean body mass (LBM), fat mass (FM), muscle strength and functional performance during radiation treatment in head and neck cancer (HNSCC) patients. Secondly, it investigated the impact of cisplatin-based chemoradiation (CCRT) on LBM loss compared with radiation alone. METHODS: 48 patients (all tumor sites) received either 6 weeks of radiation alone ( n  = 16) with 66-68 Gy in 33-34 Fx, 5-6 Fx/week or CCRT, adding weekly cisplatin or carboplatin ( n  = 32)...
August 17, 2023: Acta Oncologica
https://read.qxmd.com/read/37493444/exposure-to-endogenous-and-exogenous-sex-hormones-and-reproductive-history-influence-prognosis-in-women-with-als
#6
JOURNAL ARTICLE
M Claudia Gonzalez Deniselle, Mariela Bettini, Rosa M Garrido, Maria Meyer, Agustina Lara, Laura I Garay, Sebastian Casas, Ernesto Fulgenzi, Myriam Nuñez, Marcelo F Rugiero, Alejandro F De Nicola, Gisella Gargiulo-Monachelli
INTRODUCTION/AIMS: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a higher incidence in men suggesting an influence of sex steroids. Our objective was to investigate past exposure to endogenous and synthetic steroids in female ALS patients and controls. METHODS: We administered a questionnaire to 158 postmenopausal women (75 ALS patients and 83 controls). We calculated reproductive time span (RTS), lifetime endogenous estrogen (LEE) and progesterone exposures (LPE), oral contraceptive pill (OCP) use, and reproductive history...
October 2023: Muscle & Nerve
https://read.qxmd.com/read/37358997/a-rare-early-onset-neonatal-case-of-birk-barel-syndrome-presenting-severe-obstructive-sleep-apnea-a-case-report
#7
Qian Zhang, Zhen Qin, Ruolan Hu, Yifei Li, Fan Yang, Jinrong Li
BACKGROUND: Birk-Barel syndrome, also known as KCNK9 imprinting syndrome, is a rare fertility disorder. And the main clinical manifestations include congenital hypotonic, craniofacial malformation, developmental delay, and intellectual disability. Generally, such patients could be diagnosed beyond the infant period. Moreover, the delayed diagnosis might lead to a poor prognosis of rehabilitation therapy. However, neonatal obstructive sleep apnea (OSA) was seldom reported in Birk-Barel syndrome...
2023: Frontiers in Medicine
https://read.qxmd.com/read/37332993/case-report-clinical-and-molecular-characterization-of-two-siblings-affected-by-brody-myopathy
#8
Daniele Velardo, Sara Antognozzi, Martina Rimoldi, Serena Pagliarani, Filippo Cogiamanian, Sergio Barbieri, Stefania Corti, Giacomo Pietro Comi, Dario Ronchi
Exercise-induced muscle stiffness is the hallmark of Brody disease, an autosomal recessive myopathy due to biallelic pathogenic variants in ATP2A1 , encoding the sarcoplasmic/endoplasmic reticulum Ca2+ ATPase SERCA1. About 40 patients have been reported so far. Our knowledge about the natural history of this disorder, genotype-phenotype correlations and the effect of symptomatic treatment is partial. This results in incomplete recognition and underdiagnosis of the disease. Here, we report the clinical, instrumental, and molecular features of two siblings presenting childhood-onset exercise-induced muscle stiffness without pain...
2023: Frontiers in Neurology
https://read.qxmd.com/read/37235796/erratum-eyestalk-ablation-to-increase-ovarian-maturation-in-mud-crabs
#9
JOURNAL ARTICLE
(no author information available yet)
An erratum was issued for: Eyestalk Ablation to Increase Ovarian Maturation in Mud Crabs. The Introduction, Protocol, Discussion and References were updated. The forth sentence in the third paragraph of the Introduction has been updated from: The eyestalk ablation protocol in this work minimizes stress by using fully sedated crabs and minimizes physical injury to personnel from crab bites.  to: The eyestalk ablation protocol in this work minimizes stress by using fully anesthetized crabs and minimizes physical injury to personnel from crab bites...
May 26, 2023: Journal of Visualized Experiments: JoVE
https://read.qxmd.com/read/36890459/elderly-onset-atypical-lemierre-s-syndrome-concurrent-with-a-rheumatoid-vasculitis-sacral-ulcer-infection-a-case-report
#10
JOURNAL ARTICLE
Koji Mishima, Kazunobu Aoki, Yusuke Shirai, Hiroshi Aritomo, Maiko Iwasaka, Masakazu Katsura, Tomofumi Tatsutani, Hiroko Ikeuchi, Kensuke Oryoji, Shinichi Mizuki
BACKGROUND: Typical Lemierre's syndrome is usually secondary to an oropharyngeal infection. Recently, several cases following a primary infection site other than the oropharynx have been reported as atypical Lemierre's syndrome; although, these primary lesions are limited to the head and neck. This is the first case potentially sequential to infectious foci outside the head and neck. CASE PRESENTATION: We describe an atypical Lemierre's syndrome in a 72-year-old woman with rheumatoid arthritis, which occurred during the treatment of Streptococcus anginosus bacteremia acquired from a sacral ulcer infection related to rheumatoid vasculitis...
March 8, 2023: BMC Infectious Diseases
https://read.qxmd.com/read/36849355/-a-family-with-early-onset-myopathy-caused-by-megf10-gene-defect-and-literature-review
#11
REVIEW
Y F Lin, X Y Wu, L Yang, G Q Cheng, Y Huang, D Y Zhuang
Objective: To summarize the genetic and clinical phenotypic characteristics of patients with early-onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) caused by multiple epidermal growth factor 10 (MEGF10) gene defect. Methods: The clinical data of 3 infants in 1 family with EMARDD caused by MEGF10 gene defect diagnosed in the Department of Neonatology, Xiamen Children's Hospital in April 2022 were analyzed retrospectively. Using "multiple epidermal growth factor 10" "myopathy" or "MEGF10" "myopathy" as the key words, and searching the relevant literature reports of CNKI, Wanfang Database and PubMed Database from the establishment of the database to September 2022...
March 2, 2023: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://read.qxmd.com/read/36744038/effects-of-cold-water-immersion-after-exercise-on-fatigue-recovery-and-exercise-performance-meta-analysis
#12
Feiyan Xiao, Anastasiia V Kabachkova, Lu Jiao, Huan Zhao, Leonid V Kapilevich
Cold water immersion (CWI) is very popular as a method reducing post-exercise muscle stiffness, eliminating fatigue, decreasing exercise-induced muscle damage (EIMD), and recovering sports performance. However, there are conflicting opinions as to whether CWI functions positively or negatively. The mechanisms of CWI are still not clear. In this systematic review, we used meta-analysis aims to examine the effect of CWI on fatigue recovery after high-intensity exercise and exercise performance. A total of 20 studies were retrieved and included from PubMed, PEDro and Elsevier databases in this review...
2023: Frontiers in Physiology
https://read.qxmd.com/read/36692708/a-homozygous-ppp1r21-splice-variant-associated-with-severe-developmental-delay-absence-of-speech-and-muscle-weakness-leads-to-activated-proteasome-function
#13
JOURNAL ARTICLE
Andreas Hentschel, Nancy Meyer, Nicolai Kohlschmidt, Claudia Groß, Albert Sickmann, Ulrike Schara-Schmidt, Fabian Förster, Ana Töpf, Jon Christiansen, Rita Horvath, Matthias Vorgerd, Rachel Thompson, Kiran Polaparapu, Hanns Lochmüller, Corinna Preusse, Luis Hannappel, Anne Schänzer, Anika Grüneboom, Andrea Gangfuß, Andreas Roos
PPP1R21 acts as a co-factor for protein phosphatase 1 (PP1), an important serine/threonine phosphatase known to be essential for cell division, control of glycogen metabolism, protein synthesis, and muscle contractility. Bi-allelic pathogenic variants in PPP1R21 were linked to a neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities (NEDHFBA) with pediatric onset. Functional studies unraveled impaired vesicular transport as being part of PPP1R21-related pathomechanism. To decipher further the pathophysiological processes leading to the clinical manifestation of NEDHFBA, we investigated the proteomic signature of fibroblasts derived from the first NEDHFBA patient harboring a splice-site mutation in PPP1R21 and presenting with a milder phenotype...
January 24, 2023: Molecular Neurobiology
https://read.qxmd.com/read/36624820/delayed-prosthetic-seroma-a-localized-inflammatory-response-to-covid-vaccination-and-infection
#14
JOURNAL ARTICLE
Stephanie Li-Shan Chan, Michael Ku Hung Hsieh, James Wan Loong Mok, Tze Yean Kong
We present a patient whom we believe developed a late abdominal mesh collection in response to COVID-19 mRNA vaccination booster and COVID-19 infection. A polypropylene mesh was placed during her right breast reconstruction operation 2 years ago where she underwent a right transverse abdominis rectus muscle (TRAM) free flap. She recovered uneventfully from this operation. This lady, though vaccinated, developed respiratory symptoms and tested positive for COVID-19 infection 3 days after her booster injection...
2023: European Journal of Plastic Surgery
https://read.qxmd.com/read/36158505/delayed-arterial-symptomatic-epidural-hematoma-on-the-14-th-day-after-posterior-lumbar-interbody-fusion-a-case-report
#15
Shen-Shen Hao, Zhen-Fu Gao, Hong-Ke Li, Shuai Liu, Sheng-Li Dong, Hong-Lei Chen, Zhi-Fang Zhang
BACKGROUND: Delayed arterial symptomatic epidural hematoma (SEH) on the 14th day after posterior lumbar interbody fusion (PLIF) is rare but it may lead to severe complications if not identified and treated in a timely manner. After diagnosis of the current case, early surgical removal of the hematoma and strict hemostasis treatment was accomplished. This case report highlights the importance of swift diagnosis and treatment in SEH patients. CASE SUMMARY: A 41-year-old male patient with a single-segment lumbar disc herniation underwent left-side PLIF...
August 6, 2022: World Journal of Clinical Cases
https://read.qxmd.com/read/36100157/a-novel-homozygous-mutation-in-erlin1-gene-causing-spastic-paraplegia-62-and-literature-review
#16
JOURNAL ARTICLE
Ze-Yu Zhu, Zi-Yi Li, Chao Zhang, Xiao-Li Liu, Wo-Tu Tian, Li Cao
Hereditary spastic paraplegia (HSP) is a group of genetic neurodegenerative disorders, which is characterized by the presence of progressive spasticity and weakness in bilateral lower limbs. Spastic paraplegia 62 (SPG62) caused by the endoplasmic reticulum lipid raft associated 1 (ERLIN1) gene mutation is a rare subtype of HSP. Herein, we report the case of the first Chinese SPG62 patient, explore the potential pathogenic mechanism and review ERLIN1-related HSP patients. A 23-year-old man had progressive difficulty in walking and gait abnormalities for more than 11 years...
September 10, 2022: European Journal of Medical Genetics
https://read.qxmd.com/read/36031810/long-term-evolocumab-in-patients-with-established-atherosclerotic-cardiovascular-disease
#17
RANDOMIZED CONTROLLED TRIAL
Michelle L O'Donoghue, Robert P Giugliano, Stephen D Wiviott, Dan Atar, Anthony Keech, Julia F Kuder, KyungAh Im, Sabina A Murphy, Jose H Flores-Arredondo, J Antonio G López, Mary Elliott-Davey, Bei Wang, Maria Laura Monsalvo, Siddique Abbasi, Marc S Sabatine
BACKGROUND: In FOURIER (Further Cardiovascular Outcomes Research With PCSK9 Inhibition in Subjects With Elevated Risk), the proprotein convertase subtilisin-kexin type 9 inhibitor evolocumab reduced low-density lipoprotein cholesterol (LDL-C) and risk of cardiovascular events and was safe and well tolerated over a median of 2.2 years of follow-up. However, large-scale, long-term data are lacking. METHODS: The parent FOURIER trial randomized 27 564 patients with atherosclerotic cardiovascular disease and LDL-C ≥70 mg/dL on statin to evolocumab versus placebo...
October 11, 2022: Circulation
https://read.qxmd.com/read/35970407/effects-of-sensory-nerve-blockade-on-cutaneous-microvascular-responses-to-ischemia-reperfusion-injury
#18
JOURNAL ARTICLE
Gregory W McGarr, Stephen S Cheung
OBJECTIVE: Examine the effects of sensory nerve blockade on cutaneous post-occlusive reactive hyperemia (PORH) and local thermal hyperemia (LTH) following prolonged upper limb ischemia. MATERIALS AND METHODS: In nine males [28 years (standard deviation:6)], volar forearm skin blood flux normalized to maximum vasodilation (%SkBFmax ) was assessed at control (CTRL) and sensory nerve blockade (EMLA) treated sites during the PORH response following 20-min of complete arm ischemia and during rapid LTH (33-42 °C, 1 °C·20 s-1 , held for ~30-min + 20-min at 44 °C) before and after ischemia-reperfusion (IR) injury...
August 12, 2022: Microvascular Research
https://read.qxmd.com/read/35332596/time-to-return-to-full-training-and-recurrence-of-rectus-femoris-injuries-in-elite-track-and-field-athletes-2010-2019-a-9-year-study-using-the-british-athletics-muscle-injury-classification
#19
JOURNAL ARTICLE
Stephen McAleer, Ben Macdonald, Justin Lee, Wilbur Zhu, Michael Giakoumis, Tanya Maric, Shane Kelly, James Brown, Noel Pollock
Rectus femoris (RF) injuries are common in sports requiring maximal acceleration and sprinting. The British Athletics Muscle Injury Classification (BAMIC) describes acute muscle injury based on the anatomical site of injury and has been associated with return to play in hamstring and calf muscle injury. The aim of this study was to describe and compare the time to return to full training (TRFT) and injury recurrence for BAMIC-classified RF injuries sustained by elite track and field (T&F) athletes over a 9-year period...
July 2022: Scandinavian Journal of Medicine & Science in Sports
https://read.qxmd.com/read/34918981/exome-sequencing-reveals-novel-ttn-variants-in-saudi-patients-with-congenital-titinopathies
#20
JOURNAL ARTICLE
Mustafa A Salih, Muddathir H Hamad, Marco Savarese, Ibrahim A Alorainy, Abdullah S Al-Jarallah, Hisham Alkhalidi, Hanan AlQudairy, Anoud Albader, Amal Jahz Alotaibi, Maysoon Alsagob, Albandary Al-Bakheet, Dilek Colak, Bjarne Udd, Namik Kaya
Aim: Our goal was to determine the genetic basis of early-onset myopathy in patients from two unrelated families. Materials and Methods: Whole-exome sequencing, autozygosity mapping, and confirmatory targeted Sanger sequencing were performed using genomic DNA extracted from blood samples from three myopathic patients of two unrelated families. Variant filtering and pathogenicity analyses were evaluated according to standard protocols and up-to-date pipelines applied at the King Faisal Specialist Hospital and Research Center...
December 2021: Genetic Testing and Molecular Biomarkers
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