更新于：2024-09-19

Vocal Cord Dysfunction Familial

家族性声带功能障碍

更新于：2024-09-19

基本信息

别名

Congenital laryngeal abductor palsy、Congenital laryngeal abductor palsy (disorder)、Congenital laryngeal abductor paralysis

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简介

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.

关联

项与家族性声带功能障碍相关的临床试验

NCT01824849 / CompletedN/AIIT

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

Total arytenoidectomy is claimed to increase risk of aspiration and cause more voice loss than other operations performed for bilateral vocal fold paralysis (BVFP). However, objective evidence for such conclusion is lacking. There is no study comparing swallowing and voice after total and partial arytenoidectomy.

开始日期2011-01-01

申办/合作机构

Hacettepe University

NCT00382369 / CompletedN/A

Whole Genome Scan of Extended Families With Familial Vocal Cord Paralysis

Vocal cord paralysis is a common cause of congenital stridor and airway obstruction. In this study we plan to identify the genetic locus of the genes in two extended families who suffer of the disease.

开始日期2008-06-01

申办/合作机构

Hadassah University Hospital

100 项与家族性声带功能障碍相关的临床结果

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100 项与家族性声带功能障碍相关的转化医学

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0 项与家族性声带功能障碍相关的专利（医药）

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556

项与家族性声带功能障碍相关的文献（医药）

2024-02-23·American journal of veterinary research

Neurofilament light chain concentration does not correlate with disease status in Labrador Retrievers affected with idiopathic laryngeal paralysis.

Article

作者: 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.

2024-02-20·Pediatric dermatology

Linear IgA bullous dermatosis of childhood: Retrospective single-center cohort.

Article

作者: 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.

2024-02-19·Journal of clinical medicine

Linear IgA Bullous Dermatosis in Korea Using the Nationwide Health Insurance Database.

Article

作者: 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.

项与家族性声带功能障碍相关的新闻（医药）

2022-10-20

·BioSpace

JJP Biologics: The European Commission Has Designated JJP-1212 as an Orphan Medicinal Product.

Antagonist anti-CD89 will be developed for the treatment of Linear IgA Bullous Dermatosis. WARSAW, Poland--(BUSINESS WIRE)-- JJP Biologics, a company that specializes in the development of proprietary biologic agents for personalized medicine approaches, has announced that the European Commission has approved the company’s application for designation of its product candidate JJP-1212 as an orphan medicinal product for treatment of Linear IgA Bullous Dermatosis (LABD). Following the European Medicines Agency’s recommendation, the European Commission has confirmed that the intention to treat this condition with JJP-1212 justified orphan drug status based on in vitro and in vivo non-clinical data showing the reduction in the influx of granulocytes into the basement membrane zone of the skin and reduction of inflammatory biomarkers, addressing the key elements of LABD skin blistering pathogenesis. LABD is a chronically debilitating disease and may lead to blindness and blister formation. Moreover, currently no approved treatments are available for LABD in the European Union. The European Commission has confirmed that, as of the day of submitting the application, LABD could affect approximately 0.3 in 10,000 persons in the European Union.1 “The orphan drug designation of JJP-1212 by the EMA validates the scientific and business choices of JJP Biologics. It was confirmed that JJP-1212 targets the central mechanism in LABD by antagonizing the IgA-CD89 interaction” according to Louis Boon, the Chief Scientific Officer at JJP Biologics. “We are very excited to offer a potential novel therapy for patients suffering from this ultra-rare skin disease with currently unmet needs”. Having this drug classified into the group of orphan medicinal products provides scientific advice and protocol assistance of the agency. “This decision by the European Commission has also a substantial streamlining effect on the clinical development timeline. We feel the responsibility to translate this decision into prompt availability of the therapy for patients” states Paweł Szczepański, the Chief Operations Officer at JJP Biologics. About JJP Biologics: JJP Biologics sp. z o.o. is a biotechnology company that specializes in the development of proprietary biologic agents accompanied by companion diagnostics to allow therapy personalization. JJP Biologics is a privately funded biotech which pursues the development of its own product candidates as well as projects executed in cooperation with scientific partners. The company’s programs target general immune pathways that have application in autoimmune diseases and cancer. JJP Biologics currently has a range of programs including the most advanced JJP-1212 program and an anti-CD270 program for immune oncology. 1 JJP Biologics performed a systematic review of the published literature and the relevant EU databases (list items)

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