Results 61 to 70 of about 84,114 (290)

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

CURRENT STATE OF CT/MRI SPINAL CANAL STENOSIS DIAGNOSIS AT THE LUMBOSACRAL LEVEL (REVIEW)

Сучасні медичні технології, 2020
Issues of epidemiology, classification and radiological signs of the spinal stenosis in this review are present. Modern European criteria for spinal stenosis and radicular openings can improve the diagnosis of the condition of the spinal cord and roots ...
A. S. Sementsov, V. V. Ponomarenko
doaj   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Clinical evaluative value of cervical magnetic resonance T2 axial image in the severity of cervical canal stenosis

Zhongguo linchuang yanjiu
Objective To explore the clinical value of cervical magnetic resonance T2 axial image in evaluating thedegree of cervical canal stenosis，in order to guide precise clinical diagnosis and treatment.
FEI Changjun*，CHEN Bing，XIA Shiyong，ZHANG Xiaoyong，XIA Yiqiu，LI Hongxia
doaj   +1 more source

Correlation between lumbar spinal canal magnetic resonance imaging grading systems and parameters in lumbar spinal canal compromise

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2022
Background There is a need to assess how commonly used classification systems of intervertebral disc degeneration reflect the compromise of neural elements.
Amr Abu Elfadle, Carmen Ali Zarad, Ali Ahmed Abou Elmaaty, Bassem F. Abou El-Nagaa, Ahmed Y. Soliman   +4 more
doaj   +1 more source

Rehabilitation following surgery for lumbar spinal stenosis: a Cochrane review [PDF]

Study Design A systematic review of randomised controlled trials (RCTs) Objective To determine the effects of active rehabilitation on functional outcome following lumbar spinal stenosis surgery when compared with 'usual postoperative care'. Summary
Balagué, F., Burton, A. Kim, Cro, Suzie, Dore, CJ, Fairbank, J, McGregor, A.H., Pincus, Tamar, Probyn, K   +7 more
core   +1 more source

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +1 more source

Lumbar spinal stenosis

Ukrainian Neurosurgical Journal, 2009
Lumbar spinal stenosis is widespread pathology. It is found at almost 8% of population. Modern classifications of lumbar spinal stenosis and it’s etiologic factors are given. Pathophysiological mechanisms of stenosis are caused by three groups
Yu. E. Pedachenko
doaj   +1 more source

Transthyretin amyloid cardiomyopathy: Literature review and red‐flag symptom clusters for each cardiology specialty

ESC Heart Failure, Volume 12, Issue 2, Page 955-967, April 2025.
Abstract Wild‐type transthyretin amyloid cardiomyopathy (ATTRwt‐CM) is a progressive and infiltrative cardiac disorder that may cause fatal consequences if left untreated. The estimated survival time from diagnosis is approximately 3–6 years. Because of the non‐specificity of initial symptom manifestation and insufficient awareness among treating ...
Yasuhiro Izumiya, Toru Kubo, Jin Endo, Seiji Takashio, Masatoshi Minamisawa, Jun Hamada, Tomonori Ishii, Hajime Abe, Hiroaki Konishi, Kenichi Tsujita   +9 more
wiley   +1 more source

Opioids Delay Healing of Spinal Fusion: A Rabbit Posterolateral Lumbar Fusion Model [PDF]

, 2018
Background Context Opioid use is prevalent in the management of pre- and postoperative pain in patients undergoing spinal fusion. There is evidence that opioids downregulate osteoblasts in vitro, and a previous study found that morphine delays the ...
Briley, Karen C., Himed, Khaled, Jain, Nikhil, Khan, Safdar N., Phillips, Frank M., Toth, Jeffrey M.   +5 more
core   +1 more source