Results 121 to 130 of about 1,263,304 (239)

Muscle biopsy in Pompe disease Biópsia muscular na doença de Pompe

Arquivos de Neuro-Psiquiatria, 2013
Pompe disease (PD) can be diagnosed by measuring alpha-glucosidase levels or by identifying mutations in the gene enzyme. Muscle biopsies can aid diagnosis in doubtful cases.
Lineu Cesar Werneck, Paulo José Lorenzoni, Cláudia Suemi Kamoi Kay, Rosana Herminia Scola   +3 more
doaj  

PolyG Fibrils Coalesce Into Nuclear Ribbons That Engage Proteostasis Machinery in Neuronal Intranuclear Inclusion Disease

Advanced Science, EarlyView.
In NIID, expanded NOTCH2NLC repeats give rise to nuclear polyG inclusions. Tracer‐guided in situ cryo‐electron tomography enables cross‐scale structural analysis from mouse brain to native neuronal nuclei, revealing dense‐core/peripheral‐halo inclusions built from compact polyG ribbons.
Hui Dong, Yongcheng Pan, Zhiyao Tang, Yuxuan Yao, Guicong Zhang, Junpu Wang, Haonan Xiao, Yun Tian, Beisha Tang, Dan Li, Qiang Guo, Ruijun Tian, Qiong Liu, Cong Liu   +13 more
wiley   +1 more source

Iatrogenic intramuscular hematoma of the oblique muscles as a complication of technetium-99m-labeled pyrophosphate imaging-based computed tomography-guided core-needle biopsy in a patient with wild-type transthyretin cardiac amyloidosis

Radiology Case Reports
Technetium-99m-labeled pyrophosphate imaging-based computed tomography-guided core-needle biopsy of the internal oblique muscle with tracer uptake is a safe and sensitive extracardiac screening biopsy. It can provide histopathological confirmation of the
Koji Takahashi, MD, PhD, Takaaki Iwamura, MD, Yoshiyasu Hiratsuka, MD, PhD, Daisuke Sasaki, MRT, Nobuhisa Yamamura, MLT, Mitsuharu Ueda, MD, PhD, Mako Yoshino, MD, Daijiro Enomoto, MD, PhD, Hiroe Morioka, MD, Shigeki Uemura, MD, Takafumi Okura, MD, PhD, Tomoki Sakaue, MD, PhD, Shuntaro Ikeda, MD, PhD   +12 more
doaj   +1 more source

A Second Pathogenic Protein, PolyGN2C‐iso2, Reveals a Dual‐Protein Pathology in Neuronal Intranuclear Inclusion Disease

Advanced Science, EarlyView.
This study reveals that NOTCH2NLC transcript variant 2 generates PolyGN2C‐iso2, an aggregating protein present within intranuclear inclusions of NIID patient tissues. A novel mouse model expressing PolyGN2C‐iso2 recapitulates white matter abnormalities and cognitive deficits, mechanistically linked to mitochondrial dysfunction. These findings support a
Kang Zhang, Wenhao Ma, Yi Zhou, Zhijie Wu, Pan Gao, Hongze Niu, Hongfei Tai, Tianyi Zhao, Zheyue Dong, Li Li, Yan Zhang, An Wang, Si Shen, Yueyang Li, Sifei Yu, Yan Peng, Wang Sheng, Xiaoyan Dong, Hua Pan, Kaibin Shi, Magdalena J. Koziol, Xiaobing Wu, Zaiqiang Zhang   +22 more
wiley   +1 more source

UCtracker: A Deep Learning–Based DNA Methylation Model for Noninvasive Diagnosis and Recurrence Surveillance of Urothelial Carcinoma in a Prospective Study

Advanced Science, EarlyView.
We developed UCtracker, a urine DNA methylation–based deep learning model, for noninvasive diagnosis and postoperative surveillance of urothelial carcinoma. UCtracker demonstrates high diagnostic accuracy, robustness at ultralow sequencing depth, early recurrence detection, and dynamic risk‐stratified monitoring of molecular residual disease ...
Shengwei Xiong, Gaojie Li, Yucai Wu, Yuan Liang, Heng Guo, Yu Zhang, Gengyan Xiong, Long Tian, Xin Zhang, Ye Tian, Zhengguo Ji, Bin Guo, Yue Shi, Jian Fan, Zhihua Li, Yanqing Gong, Shiming He, Xuesong Li, Weimin Ci, Liqun Zhou   +19 more
wiley   +1 more source

ANGPTL4 Exacerbates Renal Injury in Diabetic Kidney Disease by Impairing Podocyte Lipophagy via Compromised Lysosomal Degradative Function

Advanced Science, EarlyView.
In diabetic kidney disease, elevated podocyte ANGPTL4 is linked to reduced TFEB nuclear localization and compromised lysosomal degradative function. These changes impair podocyte lipophagy and promote lipid‐droplet accumulation and podocyte injury, which may contribute to renal injury progression.
Xiaojing Liu, Shimin Jiang, Zhenkun Yang, Shunlai Shang, Jiayi Li, Guming Zou, Cheng Zhou, Wenge Li   +7 more
wiley   +1 more source

Muscle biopsy: proper surgical technique.

, 1985
Muscle biopsy is often incorrectly performed despite the fact that it is a relatively simple procedure. A consistently reproducible surgical technique in 93 open vastus lateralis muscle biopsies implemented in conjunction with neuromuscular and malignant
Berman, A T, Bosacco, S J, Weiss, A A, Rosenberg, H, Heiman-Patterson, T, Garbarino, J L   +5 more
core   +1 more source

YAP1‐Driven Pathogenic Fibro‐Adipogenic Progenitors Secrete IL‐6 and FGF21 to Mediate Muscle‐Bone Crosstalk and Promote Bone Loss

Advanced Science, EarlyView.
Fibro‐adipogenic progenitors (FAPs) in atrophic muscle undergo YAP1‐driven pathogenic activation, secreting IL‐6 and FGF21 as bone‐catabolic myokines that mediate muscle‐bone crosstalk and promote bone loss. Genetic or pharmacological targeting of this YAP1‐FAP‐myokine axis rescues skeletal deterioration, identifying FAP‐derived myokines as therapeutic
Xiaoyu Cai, Tao Xu, Rui Ma, Weikun Meng, Shutao Gao, Yakefu Abulizi, Alafate Kahaer, Chuanhui Xun, Maierdan Maimaiti, Rui Cao, Weidong Liang, Polati Maimaiti, Qiang Deng, Jun Sheng, Ting Wang, Mingchong Liu, Weibin Sheng   +16 more
wiley   +1 more source

SKELETAL-MUSCLE INVOLVEMENT in TROPICAL SPASTIC PARAPARESIS HTLV-1-ASSOCIATED MYELOPATHY

, 1994
The frequency of muscle involvement in TSP/HAM is not known, nor is the precise role that HTLV-1 and the diverse cytokines play in the genesis of HTLV-1-associated diseases.
Roman, G. C., Oliveira, ASB, Schmidt, B., Wiley, C. A., Smith, R., Bordin, J. O., Gabbai, Alberto Alain [UNIFESP], Nobrega, JAM   +7 more
core   +1 more source

Review of Gastrointestinal Capsule Robots: Materials, Actuation, Diagnostics, and Therapeutics

Advanced Science, EarlyView.
This review examines gastrointestinal capsule robots through a systems engineering lens, covering shell materials, actuation and localization strategies, diagnostic modalities, therapeutic interventions, and commercialization status. By mapping the complete technological chain from fabrication to clinical deployment, this work identifies critical gaps ...
Zengsheng Li, Zhongguo Ren, Yiliang Lin, Xianfeng Xia, Tianlong Li, Kai Fung Chan, Philip Wai Yan Chiu, Wei Peng Yong, Mengmeng Sun   +8 more
wiley   +1 more source