Results 61 to 70 of about 4,487,488 (290)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Respiratory Patterns and Chronic Heart Failure [PDF]

Circulation, 1998
To the Editor: A primary rhythm in the central nervous system that entrains both heart rate, blood pressure, and ventilation1 is suggested by profound effects on angina through consciously focusing on breathing and intervening pauses; adaptation to stress manifested by slower, …
openaire   +2 more sources

An Unusual Cause of Acute Hypercapneic Respiratory Failure

, 2011
We present a rare cause of hypercapneic respiratory failure through this case report of a 72-year-old man presenting with progressive dyspnea and dysphagia over two years. Hypercapneic respiratory failure was acute on chronic in nature without an obvious
Janice Wang, Astha Chichra, Seth Koenig
core   +1 more source

Long-term oxygen therapy in Japan: history, present status, and current problems [PDF]

, 2013
Historically, the progress of long term-oxygen therapy (LTOT) in Japan has been characterized by collaboration among academicgroups, policy makers, and industrial companies.
Ishii, Takeo, Motegi, Takashi, Hattori, Kumiko, Kida, Kozui; Department of Pulmonary Medicine, Infection, and Oncology Respiratory Care Clinic, Nippon Medical School, Tokyo, Japan, Kumiko Hattori, Takashi Motegi, Kozui Kida, Takeo Ishii   +7 more
core   +1 more source

Long‐Term Efficacy of Immunotherapy in Autoimmune Autonomic Ganglionopathy—A 10‐Year Follow Up Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune autonomic ganglionopathy (AAG) is a rare but potentially treatable cause of severe autonomic failure. Evidence guiding long‐term immunotherapy, treatment sequencing, and residual autonomic impairment is limited. We evaluated long‐term treatment response, residual autonomic dysfunction, and relapse patterns in patients with
Giacomo Chiaro, Shiwen Koay, Gordon T. Ingle, Patricia McNamara, Laura Watson, Fion Bremner, Valeria Iodice   +6 more
wiley   +1 more source

Chronic inflammatory demyelinating polyneuropathy and respiratory failure

, 2005
Neuromuscular respiratory failure is not considered to be a clinical feature of chronic inflammatory demyelinating polyneuropathy (CIDP). We present 4 patients with CIDP who required respiratory assistance and mechanical ventilation.
Henderson, R., Wijdicks, E. F. M., Sandroni, P.   +2 more
core   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Nemaline myopathy revealed by respiratory failure in adults

, 2007
Most forms of myopathy may involve the respiratory muscles and progress to respiratory failure. However, the diagnosis of myopathy is seldom considered in an adult patient with no history of muscle disease and presenting with respiratory failure ...
Streichenberger, N., Cottin, V., Vial, C., Bourdin, G., Petitjean, T., Lazor, R., Cordier, J.F., Bouhour, F.   +7 more
core   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

P/F Ratio is a Better Predictor for Non-Invasive Ventilation Failure and Length of Stay in Patients with Community-Acquired Pneumonia

Jurnal Respirasi
Introduction: Community-acquired pneumonia (CAP) can deteriorate into respiratory failure requiring immediate ventilatory intervention. This study compared the performance of the PaO2/FiO2 (P/F) ratio, the ratio of oxygen saturation (ROX) index, and the ...
Brigitta Anindita Devi Hapsari, Olivia Geraldine Roxanne, Reviono Reviono, Artrien Adhiputri, Hendrastutik Apriningsih, Nur Indah Rahayu, Guido Vagheggini   +6 more
doaj   +1 more source