Refining Genotypes and Phenotypes in <i>KCNA2</i>-Related Neurological Disorders by Jan H. Döring, Julian Schröter, Jerome Jüngling, Saskia Biskup, Kerstin A. Klotz, Thomas Bast, Tobias Dietel, G. Christoph Korenke, Sophie Christoph, Heiko Brennenstuhl, Guido Rubboli, Rikke S. Møller, Gaetan Lesca, Yves Chaix, Stefan Kölker, Georg F. Hoffmann, Johannes R. Lemke, Steffen Syrbe

“…In addition, individuals with a milder course of epilepsy, complicated hereditary spastic paraplegia, and episodic ataxia have been reported. …”
Get full text

MIELOMA PLASMABLÁSTICO DO DIAGNÓSTICO AO TRATAMENTO: RELATO DE CASO by ASA Silva, MESE Sá, JO Vieira, MFH Costa, MCDM Cahu, VECB Dantas, MP Cesar, GSD Cortez, EMS Thorpe, DF Moura

“…Posteriormente, paciente evolui clinicamente bem, entretanto persistiu com a paraplegia. Discussão: A compressão do canal medular por plasmablastos é uma emergência que pode ocorrer em até 20% dos pacientes com MP. …”
Get full text

Blunt traumatic injuries of thoracic aorta and supra-aortic trunks - a narrative review by Leonor Baldaia, Luís F. Antunes, Miguel Silva, Eduardo Silva, Celso Nunes, Vânia C. Oliveira, Joana Silva, Manuel Fonseca

“…TEVAR is considered the primary treatment for BTAI, if the patient has suitable anatomy, with good short and mid-term outcomes, with lower mortality and paraplegia rates at short and mid-term follow-up, compared to OSR. …”
Get full text

Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations by Rosangela Ferese, Simona Scala, Antonio Suppa, Antonio Suppa, Rosa Campopiano, Francesco Asci, Alessandro Zampogna, Maria Antonietta Chiaravalloti, Annamaria Griguoli, Marianna Storto, Alba Di Pardo, Emiliano Giardina, Stefania Zampatti, Francesco Fornai, Francesco Fornai, Giuseppe Novelli, Giuseppe Novelli, Mirco Fanelli, Chiara Zecca, Giancarlo Logroscino, Diego Centonze, Diego Centonze, Stefano Gambardella, Stefano Gambardella

“…IntroductionPure hereditary spastic paraplegia (SPG) type 4 (SPG4) is caused by mutations of SPAST gene. …”
Get full text

DETERMINATION OF THE BENEFITS AND COMPLICATIONS OF CLEAN INTERMITTENT CATHETERIZATION TO SPINAL CORD INJURED PATIENTS by Raheem Badr

“…A non-probability (purposive) sample of (60) male spinal cord injured (SCI) patients with paraplegia and tetraplegia were selected from different ages and educational levels who admitted to the hospital for rehabilitation. …”
Get full text

Octopus endograft technique in complex aortic pathologies – a retrospective single-center study by Tiago F. Ribeiro, Rita Soares Ferreira, Rita Garcia, Rita Bento, Fábio Pais, Joana Cardoso, Frederico Bastos Gonçalves, Maria Emília Ferreira

“…The most frequent postoperative complications were temporary acute renal failure (2/6), paraplegia (2/6) of which one was completely resolved, and non-graft related infection (2/6). …”
Get full text

Reintervention of Residual Aortic Dissection after Type A Aortic Repair: Results of a Prospective Follow-Up at 5 Years by Alizée Porto, Virgile Omnes, Michel A. Bartoli, Ron Azogui, Noémie Resseguier, Mariangela De Masi, Laurence Bal, Laura Imbert, Nicolas Jaussaud, Pierre Morera, Alexis Jacquier, Pierre-Antoine Barral, Vlad Gariboldi, Marine Gaudry

“…In the branched endograft group, there was no death, no stroke, and no paraplegia. There was one case (16.7%) of carotid dissection. …”
Get full text

Efeitos do treinamento de força muscular na agilidade e velocidade nos jogadores do basquetebol em cadeira de rodas by Joseana Araújo Bezerra Brasil Pinheiro, Silvana Maria Moura da Silva, Rodrigo Lopes da Silva, Letícia de Carvalho, Antonio Coppi Navarro, Francisco Navarro

“…Materiais e Métodos: Tratou-se de um estudo quantitativo quase experimental, com oito jogadores de basquetebol em cadeira de rodas da Associação Paradesportiva Maranhense, do sexo masculino, cinco com paraplegia, dois amputados e um vítima de artrogripose. …”
Get full text

The effects of eccentric arm crank training on upper body performance in elite athletes with a spinal cord injury by Fabian Ammann, Ann Knuchel, Anneke Hertig-Godeschalk, Claudio Perret

“…Results Nine athletes with paraplegia successfully completed the eccentric arm-cranking protocol. …”
Get full text

Reliability and validity of portable dynamometers in testing shoulder and shoulder girdle strength: A systematic review by Ursina Minder, Claudio Perret, Ursina Arnet, Fransiska M. Bossuyt

“…Shoulder strength and physical activity predictors of shoulder pain in people with paraplegia from spinal injury: Prospective cohort study. …”
Get full text

The Effect and Dose-Response of Functional Electrical Stimulation Cycling Training on Spasticity in Individuals With Spinal Cord Injury: A Systematic Review With Meta-Analysis by Chia-Ying Fang, Angela Shin-Yu Lien, Angela Shin-Yu Lien, Angela Shin-Yu Lien, Jia-Ling Tsai, Hsiao-Chu Yang, Hsiao-Lung Chan, Hsiao-Lung Chan, Rou-Shayn Chen, Rou-Shayn Chen, Rou-Shayn Chen, Ya-Ju Chang, Ya-Ju Chang, Ya-Ju Chang

“…There were 43 subjects with tetraplegia and 56 subjects with paraplegia. Spasticity decreased significantly (95% CI = − 1.538 to − 0.182, p = 0.013) in favor of FES-cycling training. …”
Get full text

Exercise and aerobic capacity in individuals with spinal cord injury: A systematic review with meta-analysis and meta-regression. by Daniel D Hodgkiss, Gurjeet S Bhangu, Carole Lunny, Catherine R Jutzeler, Shin-Yi Chiou, Matthias Walter, Samuel J E Lucas, Andrei V Krassioukov, Tom E Nightingale

“…Furthermore, acutely injured, individuals with paraplegia, exercising for ≥3 sessions/week will likely experience the greatest change in PPO. …”
Get full text

Spinal cord injury: global burden from 1990 to 2019 and projections up to 2030 using Bayesian age-period-cohort analysis by Yanbo Liu, Xuesong Yang, Zhigang He, Juan Li, Yijing Li, Yanqiong Wu, Anne Manyande, Maohui Feng, Hongbing Xiang

“…BackgroundSpinal cord injuries, often resulting from spine fractures, can lead to severe lifelong symptoms such as paraplegia and even mortality. Over the past few decades, there has been a concerning increase in the annual incidence and mortality rates of spinal cord injuries, which has also placed a growing financial strain on healthcare systems. …”
Get full text

Quantitative Assessment of Clinician Assistance During Dynamic Rehabilitation Using Force Sensitive Resistors by Margaux B. Linde, Andrew R. Thoreson, Andrew R. Thoreson, Cesar Lopez, Megan L. Gill, Daniel D. Veith, Rena F. Hale, Jonathan S. Calvert, Peter J. Grahn, Peter J. Grahn, Kalli J. Fautsch, Dimitry G. Sayenko, Kristin D. Zhao, Kristin D. Zhao

“…EES during body weight supported treadmill training (BWSTT) enhanced stepping performance in clinical trial participants with paraplegia. Unfortunately, tools are lacking in availability to quantify clinician assistance during BWSTT with and without EES. …”
Get full text

Prediction of shoulder load from wearable sensors for wheelchair related activities: A machine learning approach. by Sabrina Amrein, Charlotte Werner, Wiebe de Vries

“…Glenohumeral contact forces and muscle forces evaluated in wheelchair-related activities of daily living in able-bodied subjects versus subjects with paraplegia and tetraplegia. Archives of Physical Medicine and Rehabilitation, 86(7), 1434-1440. https://doi.org/10.1016/j.apmr.2005.03.014 Wu, W., Lee, P. …”
Get full text

<i>PNPT1</i> Spectrum Disorders: An Underrecognized and Complex Group of Neurometabolic Disorders by Paulo Sgobbi, Igor Braga Farias, Paulo de Lima Serrano, Bruno de Mattos Lombardi Badia, Hélvia Bertoldo de Oliveira, Alana Strucker Barbosa, Camila Alves Pereira, Vanessa de Freitas Moreira, Marco Antônio Troccoli Chieia, Adriel Rêgo Barbosa, Pedro Henrique Almeida Fraiman, Vinícius Lopes Braga, Roberta Ismael Lacerda Machado, Sophia Luiz Calegaretti, Isabela Danziato Fernandes, Roberta Correa Ribeiro, Marco Antonio Orsini Neves, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira

“…Clinicians must be aware of the possibility of <i>PNPT1</i> pathogenic variants in cases of spastic ataxia and spastic paraplegias that are associated with optic atrophy and marked cognitive decline, regardless of the established family history of neurological compromise.…”
Get full text

Interpretable machine learning for 28-day all-cause in-hospital mortality prediction in critically ill patients with heart failure combined with hypertension: A retrospective cohor... by Shengxian Peng, Jian Huang, Xiaozhu Liu, Jiewen Deng, Chenyu Sun, Juan Tang, Huaqiao Chen, Wenzhai Cao, Wei Wang, Wei Wang, Xiangjie Duan, Xianglin Luo, Shuang Peng

“…Feature importance analysis showed that age, mechanical ventilation (MECHVENT), chloride, bun, anion gap, paraplegia, rdw (RDW), hyperlipidemia, peripheral capillary oxygen saturation (SpO2), respiratory rate, cerebrovascular disease, heart rate, white blood cell (WBC), international normalized ratio (INR), mean corpuscular hemoglobin concentration (MCHC), glucose, AIDS, mean corpuscular volume (MCV), N-terminal pro-brain natriuretic peptide (Npro. …”
Get full text

Debranching abdominal aortic hybrid surgery for aortic diseases involving the visceral arteries by Xiantao Ma, Yi Feng, Mbenkum Achiri Tardzenyuy, Bo Qin, Qiangzhang Zhu, Wajeehullahi Akilu, Shiliang Li, Xiang Wei, Xiang Feng, Cai Cheng

“…In the conventional open group, 1 died intraoperatively, 4 died perioperatively, perioperative mortality was 10.87% and complications were respiratory failure in 5, intestinal paralysis/necrosis in 4, renal insufficiency in 17, and paraplegia in 2. At follow-up, 5 (12.20%) patients presented with synthetic grafts hematoma 4 (9.76%) patient died, and 6 (14.63%) patients required unplanned reoperation intervention.ConclusionHybrid surgery is technically feasible in selected cases. …”
Get full text

Phenotypic continuum of NFU1‐related disorders by Rauan Kaiyrzhanov, Maha S. Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Mina Zamani, Gözde Yeşil Sayin, Taru Hilander, Stephanie Efthymiou, Viorica Chelban, Ruth Brown, Kyle Thompson, Maria Irene Scarano, Jaya Ganesh, Kairgali Koneev, Ismail Musab Gülaçar, Richard Person, Dinara Sadykova, Yerdan Maidyrov, Tahereh Seifi, Aizhan Zadagali, Geneviève Bernard, Katrina Allis, Houda Zghal Elloumi, Amanda Lindy, Ehsan Taghiabadi, Sumit Verma, Rachel Logan, Brian Kirmse, Renkui Bai, Shaimaa M. Khalaf, Mohamed S. Abdel‐Hamid, Alireza Sedaghat, Gholamreza Shariati, Mahmoud Issa, Jawaher Zeighami, Hasnaa M. Elbendary, Garry Brown, Robert W. Taylor, Hamid Galehdari, Joseph J. Gleeson, Christopher J. Carroll, James A. Cowan, Andres Moreno‐De‐Luca, Henry Houlden, Reza Maroofian

“…We report 19 affected individuals from 10 independent families with ultra‐rare bi‐allelic NFU1 missense variants associated with a spectrum of early‐onset pure to complex hereditary spastic paraplegia (HSP) phenotype with a longer survival (16/19) on one end and neurodevelopmental delay with severe hypotonia (3/19) on the other. …”
Get full text

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansionsResearch in context by Jean-Loup Méreaux, Claire-Sophie Davoine, David Pellerin, Giulia Coarelli, Marie Coutelier, Claire Ewenczyk, Marie-Lorraine Monin, Mathieu Anheim, Isabelle Le Ber, Stéphane Thobois, Florent Gobert, Léna Guillot-Noël, Sylvie Forlani, Ludmila Jornea, Anna Heinzmann, Aude Sangare, Bertrand Gaymard, Lucie Guyant-Maréchal, Perrine Charles, Cecilia Marelli, Jérôme Honnorat, Bertrand Degos, François Tison, Sophie Sangla, Marion Simonetta-Moreau, François Salachas, Maya Tchikviladzé, Giovanni Castelnovo, Fanny Mochel, Stephan Klebe, Anna Castrioto, Silvia Fenu, Aurélie Méneret, Frédéric Bourdain, Marion Wandzel, Virginie Roth, Céline Bonnet, Florence Riant, Giovanni Stevanin, Sandrine Noël, Anne-Laure Fauret-Amsellem, Melanie Bahlo, Paul J. Lockhart, Bernard Brais, Mathilde Renaud, Alexis Brice, Alexandra Durr

“…Methods: We sized this repeat in 1876 individuals from France sampled for research purposes in this cross-sectional study: 845 index cases with cerebellar ataxia and 324 affected relatives, 475 controls, as well as 119 cases with spastic paraplegia, and 113 with familial essential tremor. …”
Get full text