Results 91 to 100 of about 48,007 (304)

Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance. [PDF]

, 2019
IntroductionMucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B).
Akyol, Mehmet Umut, Alden, Tord D, Amartino, Hernan, Ashworth, Jane, Belani, Kumar, Berger, Kenneth I, Borgo, Andrea, Braunlin, Elizabeth, Eto, Yoshikatsu, Giugliani, Roberto, Gold, Jeffrey I, Harmatz, Paul, Hendriksz, Christian, Jester, Andrea, Jones, Simon A, Karsli, Cengiz, Mackenzie, William, Marinho, Diane Ruschel, McFadyen, Andrew, McGill, Jim, Mitchell, John J, MPS Consensus Programme Co-Chairs, MPS Consensus Programme Steering Committee, Muenzer, Joseph, Okuyama, Torayuki, Orchard, Paul J, Scarpa, Maurizio, Stevens, Bob, Thomas, Sophie, Walker, Robert, Wynn, Robert   +30 more
core  

Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog. [PDF]

, 2020
Mucopolysaccharidosis (MPS) is a metabolic storage disorder caused by the deficiency of any lysosomal enzyme required for the breakdown of glycosaminoglycans.
Aguilar, Miriam, Ancona, Devin, Bannasch, Danika, Brown, C. Titus, Cowan, Tina, Knipe, Marguerite, Mansour, Tamer, Moore, Bret, Seada, Haitham, Sebbag, Lionel, Sebbag, Lionel, Thomasy, Sara, Vernau, Karen, Woolard, Kevin   +13 more
core   +3 more sources

Prenatal Tympanic Ring Anomaly Without Microtia: A Subtle Clue Toward Severe Early‐Onset Monogenic Disorders

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the genetic etiologies and clinical significance of fetal tympanic ring abnormalities detected during second‐trimester ultrasound in the absence of microtia. Method Between November 2019 and June 2024, we examined the fetal tympanic rings of 10,277 unselected pregnant women during the 20–22 weeks of morphology ...
Yung Hang Lam, Mengmeng Shi, Zirui Dong, Kwong Wai Choy, Tak Yeung Leung, Ye Cao   +5 more
wiley   +1 more source

Full-endoscopic Laminotomy Is Effective for Lumbar Spinal Stenosis with Low-grade Spondylolisthesis: A Comparative Cohort Study

Neurologia Medico-Chirurgica
The optimal management of lumbar spinal canal stenosis with spondylolisthesremains controversial, particularly when choosing between decompression alone or decompression with fusion.
Kyohei KIN, Ryoji TOMINAGA, Kento TAKEBAYASHI, Hiroki IWAI, Hirohiko INANAMI, Hisashi KOGA   +5 more
doaj   +1 more source

Clinical features of ligamentosis in lumbar spinal stenosis in patients of different agе

Ukrainian Neurosurgical Journal, 2012
Introduction. Ligamentosis of lumbar spinal canal are rare and not well investigated pathology.Materials and methods. From our patients with lumbar spinal stenosis we took that, which had changes in spinal ligamentsResults.
Yuriy Pedachenko, Elena Krasilenko
doaj   +1 more source

Chiropractic spinal manipulative therapy versus physical therapist‐led exercise and the risk of cauda equina syndrome in adults with lumbar disc herniation, stenosis, or radiculopathy

PM&R, EarlyView.
Abstract Background Cauda equina syndrome is a surgical emergency often caused by lumbar disc herniation. Spinal manipulative therapy is commonly used for lumbar spine disorders, but case reports have raised concerns it may precipitate cauda equina syndrome. One cohort study suggested no increased risk, although it did not focus on patients with lumbar
Robert J. Trager, Anthony N. Baumann, Romeo‐Paolo T. Perfecto, Christine M. Goertz   +3 more
wiley   +1 more source

Multiplanar Reconstruction Computed Tomography of Lumbar Spinal Stenosis in Correlation with Surgical Findings: Initial Experience

Siriraj Medical Journal, 2003
Lumbar spinal stenosis is a debilitating illness affecting middle-aged and elderly people. There are several imaging modalities available for use in affirming the diagnosis. The CT provides excellent osseous detail of osteophyte, fracture and location of
Sitthipong Srisajjakul, Orasa chawalparit   +1 more
doaj  

Evaluation of 4 Outcomes Measures in Microtia Treatment: Exposures, Infections, Aesthetics, and Psychosocial Ramifications. [PDF]

, 2017
BackgroundIn craniofacial microsomia, microtia and canal atresia pose formidable reconstructive challenges. We review our institutional experience in treating microtia and atresia to identify variables associated with 4 outcomes measures: complications ...
Bradley, James P, Dubina, Emily, Ishiyama, Akira, Lee, Justine C, Mandelbaum, Rachel S, Martins, Deborah B, Park, Sarah H, Volpicelli, Elizabeth J   +7 more
core  

Chinese Registry on Transjugular Intrahepatic Portosystemic Shunts (CN‐TIPS): Protocol for a Registry‐Based, Prospective Prognostic Study

Portal Hypertension &Cirrhosis, EarlyView.
CN‐TIPS is a nationwide, multicenter prospective registry that will enroll 10,000 adults with portal hypertension undergoing transjugular intrahepatic portosystemic shunt in China, integrating perioperative clinical and hemodynamic metrics with standardized imaging (including computational modeling in a dedicated subcohort) and multi‐omics biospecimens,
Yi Xiang, Yong Lv, Hongwei Zhou, Jianbo Zhao, Meng Niu, Jiacheng Liu, Guangchuan Wang, Qi Zhang, Weizhong Zhou, Beijia Yu, Jun Chi, Guo Han, Jiawei Zhang, Long Gao, Wenjing Liu, Zhang Zhang, Tianyu Liu, Wuhua Guo, He Zhao, Gao‐Jun Teng, Xiaolong Qi   +20 more
wiley   +1 more source

Pattern of lumbosacral MRI findings among adults with chronic low back pain and lumbar canal stenosis at a Neuro-surgical Hospital in South-East Nigeria

International Journal of Medicine and Health Development, 2015
Background: Lumbar canal stenosis often associated with chronic low back pain describes abnormal narrowing of the lumbar spinal canal, likely resulting in compression of neural elements within the spinal canal and the lateral recesses.
Eric Okechukwu Umeh, Uzoamaka Rufina Ebubedike, Godwin Ogbole, Chika Ndubuisi, Wilfred Mezue, Samuel Ohaegbulam   +5 more
doaj   +1 more source