Results 41 to 50 of about 51,218 (228)

A practical approach to the patient presenting with dropped head [PDF]

open access: yes, 2016
Head drop, or having a dropped head, is an uncommon condition in which patients present with a disabling inability to lift their head. It may arise in many neurological conditions that can be divided into those with neuromuscular weakness of neck ...
Demicoli, Marija, Marsh, Eleanor A.
core   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken   +4 more
wiley   +1 more source

Early and Late Reoperation Rates With Various MIS Techniques for Adult Spinal Deformity Correction. [PDF]

open access: yes, 2018
Study designA multicenter retrospective review of an adult spinal deformity database.ObjectiveWe aimed to characterize reoperation rates and etiologies of adult spinal deformity surgery with circumferential minimally invasive surgery (cMIS) and hybrid ...
Akbarnia, Behrooz A   +14 more
core   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio   +11 more
wiley   +1 more source

Analysis of therapeutic effects of congenital kyphosis in children due to anterior vertebral bone bridges

open access: yesFrontiers in Surgery
ObjectiveTo investigate the choice of treatment options and long-term orthopedic results of congenital kyphosis in children due to anterior vertebral bone bridges.MethodsThe clinical data of children with congenital kyphosis due to anterior vertebral ...
Ke Xu   +7 more
doaj   +1 more source

Comparison of loss of correction between PSO and VCD technique in treating thoracolumbar kyphosis secondary to ankylosing spondylitis, a minimum 2 years follow-up

open access: yesJournal of Orthopaedic Surgery and Research, 2019
Background Pedicle subtraction osteotomy (PSO) and vertebral column decancellation (VCD) are frequently used methods for correction of thoracolumbar kyphosis resulting from ankylosing spondylitis (AS).
Yao Wang   +14 more
doaj   +1 more source

Reliability of measuring thoracic kyphosis angle, lumbar lordosis angle and straight leg raise with an inclinometer [PDF]

open access: yes, 2012
Licensed under the terms of the Creative Commons Attribution non-commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted, non-commercial use, distribution and reproduction in any medium, providing that the work is ...
Lewis, J.S.   +3 more
core   +1 more source

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

open access: yesAmerican 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   +3 more
wiley   +1 more source

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij   +5 more
wiley   +1 more source

Relationship Between Kyphosis and Postoperative Gastroesophageal Reflux After Proximal Gastrectomy

open access: yesAnnals of Gastroenterological Surgery
Aim The prevalence of kyphosis is increasing with increasing life expectancy. One of the most notable gastrointestinal complications is gastroesophageal reflux disease (GERD) in patients with kyphosis.
Takaomi Ozawa   +9 more
doaj   +1 more source

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