Results 101 to 110 of about 365,329 (283)

Severe CMD with Novel Mutation in Lamin A/C Gene

open access: yesPediatric Neurology Briefs, 2010
Researchers at Queen Fabiola Children’s University Hospital, Brussels, Belgium, report a 7-year-old Belgian boy with a 5 months-onset congenital muscular dystrophy and laminopathy caused by a de novo heterozygous LMNA gene mutation.
J Gordon Millichap
doaj   +1 more source

ALS With and Without Upper Motor Neuron Signs: A Comparative Study Supporting the Gold Coast Criteria

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The Gold Coast criteria permit diagnosis of amyotrophic lateral sclerosis (ALS) even without upper motor neuron (UMN) signs. However, whether ALS patients with UMN signs (ALSwUMN) and those without (ALSwoUMN) share similar characteristics and prognoses remains unclear.
Hee‐Jae Jung   +7 more
wiley   +1 more source

The Case of a 37‐Year‐Old Woman Presenting With Subacute Weakness and Paresthesias

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Acute intermittent porphyria (AIP) is a rare metabolic disorder that may present with subacute neuropathy and systemic symptoms, often leading to diagnostic delay. We report a 37‐year‐old woman with eight weeks of progressive bilateral upper extremity weakness and paresthesias, followed by lower extremity involvement and falls, in the setting ...
Peter Pacut   +3 more
wiley   +1 more source

A 73‐Year‐Old Man With Several Years of Difficulty Climbing Stairs and Frequent Tripping

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 73‐year‐old man presented with progressive weakness and atrophy predominantly affecting the distal finger flexors and quadriceps muscles. Electrophysiological studies demonstrated mixed myogenic and neurogenic features. Muscle MRI showed inflammatory changes, and muscle biopsy revealed granulomatous myositis with histologic features ...
Mehmet Can Sari   +3 more
wiley   +1 more source

Timely Diagnosis of Malalignment of the Distal Extremities Is Crucial in Morbidly Obese Juveniles

open access: yesObesity Facts, 2013
Background/Aims: To determine i) whether obesity in childhood can be related to malalignment of the distal extremities, ii) the proportion of genu valgum malalignment and abduction setting, and iii) the respective deviation dominance in children who are ...
Franz Landauer   +5 more
doaj   +1 more source

Eccrine poromatosis following chemotherapy and radiation therapy [PDF]

open access: yes, 2019
Eccrine poroma presents as a single, symptomless erythematous papule in areas with a high density of eccrine sweat glands. Although rare, eccrine poromas can present as multiple lesions, otherwise known as eccrine poromatosis.
Chiu, Melvin, Kim, Gene, Nguyen, Khoa
core  

A Case Report of Acute Transverse Myelitis Following Novel Coronavirus Infection [PDF]

open access: yes, 2020
Introduction: During the coronavirus disease 2019 (COVID-19) pandemic, emergency providers are not only seeing an increasing number of patients with COVID-19 infections, but also associated complications and sequelae of this viral illness.Case Report: We
Bilello, Leslie A., Sarma, Deesha
core  

Development of a Personalized Visualization and Analysis Tool to Improve Clinical Care in Complex Multisystem Diseases With Application to Scleroderma

open access: yesArthritis Care &Research, EarlyView.
Objective In complex diseases, it is challenging to assess a patient's disease state, trajectory, treatment exposures, and risk of multiple outcomes simultaneously, efficiently, and at the point of care. Methods We developed an interactive patient‐level data visualization and analysis tool (VAT) that automates illustration of the trajectory of a ...
Ji Soo Kim   +18 more
wiley   +1 more source

Gunshot wounds in the lower extremities: Treatment review

open access: yesFoot & Ankle Surgery: Techniques, Reports & Cases
A high number of gunshot injuries occur in the lower extremities, making it likely that foot and ankle surgeons will encounter these wounds when involved in lower extremity trauma care.
Michael A. Coyer, DPM FACFAS   +4 more
doaj   +1 more source

Lived and Care Experiences of Chronic Musculoskeletal Shoulder Pain in Australian Adults: A Qualitative Study

open access: yesArthritis Care &Research, EarlyView.
Objective Australian evidence on lived and care experiences of chronic musculoskeletal shoulder pain (CMSP), irrespective of disorder classification or disease, is limited. However, such evidence is important for person‐centered care and informing local service pathways and care guidelines or standards.
Sonia Ranelli   +8 more
wiley   +1 more source

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