Results 191 to 200 of about 323,689 (331)

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

open access: yesAmerican 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   +10 more
wiley   +1 more source

Rationale of New Grading System: Central Compartment Atopic Disease

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Central compartment atopic disease (CCAD) has recently been recognized as a distinct phenotype within the spectrum of type 2–dominant chronic rhinosinusitis (CRS). Although international guidelines highlight polypoid changes in the central nasal cavity, standardized diagnostic and classification criteria are still lacking.
Ramón Moreno‐Luna   +11 more
wiley   +1 more source

Is the human brain capable of controlling seven degrees of freedom? [PDF]

open access: yes, 2019
De Pauw, Tim   +7 more
core   +1 more source

Biofilm Exoproteins From Staphylococcus Species Impede Re‐Epithelialization of Nasal Epithelial Cells During Wound Healing and Cease Ciliary Beat Frequency

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Introduction Chronic rhinosinusitis (CRS) is an inflammatory disease with many different contributing factors, including bacterial infection. CRS patients are typically managed with medical therapies; however, these treatments frequently fail, leaving surgery as the only viable option.
Sintayehu Ambachew   +8 more
wiley   +1 more source

Robotic sigmoid colectomy with intracorporeal anastomosis: IMV first approach-a video vignette. [PDF]

open access: yesTech Coloproctol
Butnari V   +6 more
europepmc   +1 more source

A novel mouse model simulating C5 palsy after cervical surgery

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This study establishes a reliable mouse model of permanent C5 palsy (post‐laminectomy complication) via dorsal approach, selectively severing the C5 anterior nerve root while preserving the posterior root through partial C4 and C5 laminectomy. The model successfully replicates clinical C5P features—flaccid shoulder paralysis, electrophysiological ...
Chenpei Xu   +8 more
wiley   +1 more source

Probabilistic Lesion Mapping to Optimize Thalamotomy Targets for Focal Hand Dystonia

open access: yesAnnals of Neurology, EarlyView.
Objective Focal hand dystonia (FHD) severely impairs task‐specific motor control, yet the optimal surgical target for stereotactic intervention remains uncertain. This study aimed to identify the precise thalamic lesion site associated with symptomatic improvement and to clarify its network connectivity. Methods We retrospectively analyzed 164 patients
Masahiko Nishitani   +12 more
wiley   +1 more source

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