Results 91 to 100 of about 253,518 (312)

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Lumbar spine and proximal femur BMD values in Turkish girls and the effect of precocious puberty on BMD.

Medicine Science, 2012
Previous studies have shown no impairment in bone mineral density in girls with precocious and early puberty. The aim of this study was to evaluate the effect of precocious puberty on BMD and to measure average bone mineral density in Turkish girls ...
Ersoy Kekilli, Mustafa Arif Aluclu, Fatih Bati, Ismail Koksal   +3 more
doaj   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Age-Related Differences in the Functional Demand Placed on the Lumbar Spine during Walking in Healthy Older versus Younger Men

Geriatrics
Age-related declines in the musculoskeletal system may place additional demands on the lumbar spine during everyday activities such as walking. This study aimed to investigate age-related differences in the functional demand (FD) of walking on the lumbar
Alexander Dallaway, Michael Duncan, Corbin Griffen, Derek Renshaw, Jason Tallis, John Hattersley   +5 more
doaj   +1 more source

Low impact weight-bearing exercise in an upright posture achieves greater lumbopelvic stability than overground walking [PDF]

, 2013
The aim of this study was to determine the kinematic differences between movements on a new exercise device (EX) that promotes a stable trunk over a moving, unstable base of support, and overground walking (OW).
Caplan, Nick, Debuse, Dorothée, Gibbon, Karl   +2 more
core   +3 more sources

Research progress on biomarkers of traumatic brain injury

Animal Models and Experimental Medicine, EarlyView.
Traumatic brain injury: From primary insult to secondary neuroinflammation and degeneration. Abstract Traumatic brain injury (TBI) is a common disorder of the nervous system and has become a leading cause of death and disability worldwide, imposing a substantial burden on patients and their social circles. Its main symptoms include dyskinesia, language
Xuting Shen, Si Cheng, Shuyi Chen, Mengyue Wang, Tangying Li, Weicheng Xu, Yifan Zhang, Ping Yuan, Lei Shi   +8 more
wiley   +1 more source

Therapeutic exercise following lumbar spine surgery: a narrative review

North American Spine Society Journal
: Background: Therapeutic exercise is often part of the rehabilitation process following lumbar spine surgery. Despite this utilization, high-quality evidence and specific guidance regarding therapeutic exercise parameters and protocols following lumbar
Ram Haddas, PhD, MBA, Andréas Remis, DPT, Yair Barzilay, MD, Varun Puvanesarajah, MD, Jake Keller, DPT, Brian M Clifford, DPT, OCS, CSCS, Justin M. Lantz, DPT, John M. Mayer, DC, PhD, FACSM   +7 more
doaj   +1 more source

Which Design and Biomaterial Factors Affect Clinical Wear Performance of Total Disc Replacements? A Systematic Review [PDF]

, 2014
Background Total disc replacement was clinically introduced to reduce pain and preserve segmental motion of the lumbar and cervical spine. Previous case studies have reported on the wear and adverse local tissue reactions around artificial prostheses ...
Alexander, Dominik D., Kurtz, Steven M., Steinbeck, Marla J., Toth, Jeffrey M., Veruva, Sai Y.   +4 more
core   +2 more sources

Revisiting paravertebral muscles in European rabbits (Oryctolagus cuniculus) and European brown hares (Lepus europaeus) (Leporidae; Lagomorpha)

The Anatomical Record, EarlyView.
Abstract Domesticated European rabbits (Oryctolagus cuniculus) have long been chosen as laboratory model organisms. Despite this, there has been no definitive study of the vertebral musculature of wild rabbits. Relevant descriptions of well‐studied veterinary model mammals (such as dogs) are generally applicable, but not appropriate for a species ...
Nuttakorn Taewcharoen, Emma Sherratt, Philip Stott, Rachel Norris   +3 more
wiley   +1 more source

Stability of the human spine: a biomechanical study [PDF]

, 1988
The influences of curvatures and of physical properties on the mechanical stability of the spine were analysed by means of a three-dimensional, geometrical, nonlinear biomechanical model.
Grootenboer, H.J., Scholten, P.J.M., Veldhuizen, A.G.   +2 more
core   +3 more sources