Results 171 to 180 of about 915,369 (314)

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

Presence and detectability of the second victim phenomenon in German-speaking medical professionals involved in dysphagia and respiratory therapy: cross-sectional survey research (SeViD-V). [PDF]

BMC Health Serv Res
Bushuven S, Taubner TP, Trifunovic-Koenig M, Diesener P, Gerber B, Rohlfes C, Kuske S, Roesner H, Bushuven S, Strametz R.   +9 more
europepmc   +1 more source

Proximal cholangiocarcinomas

Journal of British Surgery, 1988
openaire   +2 more sources

Remarkable Recovery After Delayed High‐Dose Methylprednisolone in a Rare Case of Penetrating Spinal Cord Injury

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Traumatic spinal cord injury (TSCI) caused by sharp‐force penetration is exceptionally rare, and the use of high‐dose methylprednisolone (MP) remains highly controversial, especially beyond the conventional 8‐h treatment window. This case report describes a 30‐year‐old male with acute incomplete TSCI following a knife stab wound to the right ...
Honghong Wang, Shuang Liu, Jiale Wang, Kaiyang Xue, Shenwei Li, Zhongheng Du   +5 more
wiley   +1 more source

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos, Morgan C. Devore, Christina Lam, Courtney Park, Sanjay Bidichandani, David R. Lynch   +5 more
wiley   +1 more source

Mapping malaria risk using geospatial and AHP approaches in Nsanje District, Malawi. [PDF]

Epidemiol Infect
Banda YM, Nyengere J, Saka K, Tholo H, Chisenga C, Njalammano J, Kamanga BN, Gondwe S, Mtewa AG, Abraham A, Kachedwa L, Chirombo J, Nguvulu A, Chinkaka E, Kadewa W, Mvula RLS.   +15 more
europepmc   +1 more source

The Case of a 55‐Year‐Old Man With Leg Weakness

Annals of Clinical and Translational Neurology, EarlyView.
Ada Breitenbucher, Connor Welsh, Kelly Braun, Michael V. Robers   +3 more
wiley   +1 more source

The Tale of the Residual Tail: Insights From Continuous Intracranial Monitoring From Post‐Hippocampectomy Dynamics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Subtotal hippocampal resection can leave residual hippocampal tissue, yet the immediate postoperative electrophysiologic evolution of such remnants is unknown. We describe a patient with drug‐resistant temporal lobe epilepsy in whom a hippocampal remnant was continuously monitored using a responsive neurostimulator (RNS) following subtotal ...
Patrick Hartnett, Syeda Amrah Hashmi, Amaan Qureshi, Heather Spader, Shayan Moosa, Ifrah Zawar   +5 more
wiley   +1 more source

Neurovascular Contacts in the Pathophysiology of Neuralgic Amyotrophy: An Observational Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuralgic amyotrophy (NA) is a prevalent, monophasic, multifocal immune‐mediated neuropathy. A distinctive characteristic of the disease is the occurrence of nerve or fascicle constrictions and torsions (NA‐associated focal nerve lesions, NAFL). The pathophysiology underlying this phenomenon remains to be fully elucidated.
Johannes Fabian Holle, Andreas Leha, Volker Limmroth, Wolfram Windisch, Maximilian Zimmermann   +4 more
wiley   +1 more source

Research on the simplified calculation method of non-limit active earth pressure of limited soil mass in adjacent foundation pits. [PDF]

PLoS One
Zhang Z, Wang Z, Xu F, Wu F, Liu Z, Chen X, Kang J.   +6 more
europepmc   +1 more source