Last update 19 Sep 2024
Vocal Cord Dysfunction Familial
Last update 19 Sep 2024
Basic Info
Synonyms Congenital laryngeal abductor palsy, Congenital laryngeal abductor palsy (disorder), Congenital laryngeal abductor paralysis + [15] |
Introduction Laryngeal abductor paralysis with inspiratory stridor, swallowing difficulty, asphyxia, and mental deficiency. Adductor laryngeal paralysis (OMIM 150270) is a variant in which hoarseness from birth appears to be the only symptom. Terms familial vocal cord dysfunction and laryngeal abductor paralysis are also used as the synonyms for the Plott syndrome which is transmitted as an X-linked trait. |
Related
The Comparison of Voice and Swallowing Parameters After Endoscopic Total and Partial Arytenoidectomy Using Medially Based Mucosal Advancement Flap Technique for Bilateral Abductor Vocal Fold Paralysis: A Randomized Trial
Whole Genome Scan of Extended Families With Familial Vocal Cord Paralysis
100 Clinical Results associated with Vocal Cord Dysfunction Familial
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100 Translational Medicine associated with Vocal Cord Dysfunction Familial
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23 Feb 2024American journal of veterinary research
Neurofilament light chain concentration does not correlate with disease status in Labrador Retrievers affected with idiopathic laryngeal paralysis.
Article
Author: Jacquelyn H Perino ; Margaret Patterson ; Mehdi Momen ; Mina Borisova ; Amanda Heslegrave ; Henrik Zetterberg ; Jordan Gruel ; Emily E Binversie ; Ryan S Anderson ; Helena Rylander ; Starr Cameron ; Benjamin Miranda ; Gabi Conidi ; John Svaren ; Susannah J Sample
OBJECTIVE:
The aim of this study was to investigate whether plasma neurofilament light chain (pNfL) concentration was altered in Labrador Retrievers with idiopathic laryngeal paralysis (ILP) compared to a control population. A secondary aim was to investigate relationships between age, height, weight, and body mass index in the populations studied.
ANIMALS:
123 dogs: 62 purebred Labrador Retrievers with ILP (ILP Cases) and 61 age-matched healthy medium- to large-breed dogs (Controls).
METHODS:
Dogs, recruited from August 1, 2016, to March 1, 2022, were categorized as case or control based on a combination of physical exam, neurologic exam, and history. Blood plasma was collected, and pNfL concentration was measured. pNfL concentrations were compared between ILP Cases and Controls. Covariables including age, height, and weight were collected. Relationships between pNfL and covariables were analyzed within and between groups. In dogs where 2 plasma samples were available from differing time points, pNfL concentrations were measured to evaluate alterations over time.
RESULTS:
No significant difference in pNfL concentration was found between ILP Cases and Control (P = .36). pNfL concentrations had moderate negative correlations with weight and height in the Control group; other variables did not correlate with pNfL concentrations in ILP Case or Control groups. pNfL concentrations do not correlate with ILP disease status or duration in Labrador Retrievers.
CLINICAL RELEVANCE:
There is no evidence that pNfL levels are altered due to ILP disease duration or progression when compared with healthy controls. When evaluating pNfL concentrations in the dog, weight and height should be considered.
20 Feb 2024Pediatric dermatology
Linear IgA bullous dermatosis of childhood: Retrospective single-center cohort.
Article
Author: Katherine L Wang ; Julia S Lehman ; Dawn M R Davis
Linear IgA bullous dermatosis (LABD) is a rare autoimmune blistering disorder impacting children and adults. In this single-center retrospective chart review of pediatric patients with LABD at a large tertiary referral center, we report the unifying and unique clinical features of 10 pediatric patients. Patients typically presented with the "cluster of jewels" sign (n = 6; 60%), mucous membrane involvement (n = 5; 50%) and had a mean disease duration of 38 months; six patients (60%) required inpatient admission for management of their skin disease, including all five patients who had mucous membrane involvement. Our findings suggest that pediatric LABD may be a disease with high morbidity and may be associated with severe complications when mucous membranes are involved.
19 Feb 2024Journal of clinical medicine
Linear IgA Bullous Dermatosis in Korea Using the Nationwide Health Insurance Database.
Article
Author: Yu Rim Kim ; Ji Hyeon Kim ; Sang Won Kim ; Jae Min Lee ; Jacob S Bae
(1) Background: Linear immunoglobulin A bullous dermatosis (LABD) is a rare autoimmune, subepidermal blistering disease, characterized by linear IgA deposits along the epidermal basement membrane. LABD is idiopathic and is associated with medication and systemic autoimmune diseases. (2) Methods: We investigated the demographic characteristics, disease course, causative agents, and associated diseases in Korean patients with LABD. The Korean Health Insurance Review and Assessment Service database was used to obtain data. We identified 670 LABD cases between 2010 and 2022. (3) Results: The annual incidence of LABD was 1.3 per 100,000 persons, with a higher prevalence in individuals ≥60 years old. The patients were treated with dapsone for 30.7 ± 56.7 days, had 1.3 ± 0.7 hospital visits, and were hospitalized for 19.8 ± 19.7 days. Risk factors, including malignancy, commonly preceded LABD. Antibiotic use, specifically vancomycin and third-generation cephalosporins, was a risk factor. The mean age of LABD diagnosis was 55.9 ± 21.7 years. (4) Conclusion: This is the first published study to assess a nationwide cohort for LABD. The incidence of LABD was higher than that in other studies. Most case reports have linked LABD with the administration of specific antibiotics; however, this study shows there were more associations with other conditions.
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