Results 161 to 170 of about 336,142 (217)

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan   +5 more
wiley   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness   +11 more
wiley   +1 more source

Extent of Sinus Surgery Is Associated With Disease Control in Biologic Treated Type 2 Dominant CRS

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background A greater benefit of biologics is observed after surgery in Type 2 chronic rhinosinusitis with nasal polyps (CRSwNP). However, the extent of surgery remains undefined in many studies. This study evaluated the extent of surgery on disease control in patients receiving biologics for refractory Type 2 dominant CRSwNP.
Nicholas J. Campion   +11 more
wiley   +1 more source

Lost and Found: Is Olfactory Recovery More Promising After COVID‐19 Than Other Causes, Even 2 Years Later?

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Olfactory dysfunction is a hallmark feature of COVID‐19, yet the potential for recovery with long‐standing COVID‐19‐related smell loss (CRSL) remains uncertain, particularly when treatment is initiated years later. This study evaluated olfactory outcomes in patients with CRSL compared with non‐COVID‐19‐related smell loss (non‐CRSL),
John W. Hunsicker   +6 more
wiley   +1 more source

Translation and Cross‐Cultural Adaptation of the Chronic Rhinosinusitis Control Test for Global Use

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Introduction The Chronic Rhinosinusitis Control Test (CRCT) is a patient‐reported outcome measure (PROM) written in English that is psychometrically validated to measure chronic rhinosinusitis control. Because the availability of translated PROMs is a driver of data equity—collection of data that is fair and generally representative—our ...
Hye K. Pae   +52 more
wiley   +1 more source

Inflammatory Signatures Beyond Th1/Th2 Endotypes Provide Insights Into Postoperative Recurrence in Chronic Rhinosinusitis

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) represents a spectrum of inflammatory endotypes, driven by distinct T helper (Th) immune responses. The high rate of recurrent disease despite appropriate medical and surgical interventions highlights the need for improved characterization beyond the traditional type 2 and non‐type 2 phenotypes to better
Liyona Kampel   +9 more
wiley   +1 more source

Chronic Rhinosinusitis and Nasal Polyps in Eosinophilic Granulomatosis With Polyangiitis: A Scoping Review

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) is one of the most common manifestations of eosinophilic granulomatosis with polyangiitis (EGPA), often preceding the diagnosis of systemic vasculitis by several years. The sinonasal presentation of EGPA typically resembles CRS with nasal polyps (CRSwNP), making it clinically indistinguishable from those
Alisha Sharma   +12 more
wiley   +1 more source

Revertant Mosaicism Obscures Long‐Awaited Molecular Confirmation of Diamond‐Blackfan Anemia

open access: yes
American Journal of Medical Genetics Part A, EarlyView.
Nicholas A. Borja, Mustafa Tekin
wiley   +1 more source

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