Winchester Syndrome

Last update 08 May 2025

Basic Info

Synonyms

Torg-Winchester Syndrome, WINCHESTER SYNDROME, WNCHRS

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Introduction

An autosomal recessive inherited disorder, caused by mutation(s) in the MMP14 gene, encoding matrix metalloproteinase-14. It is characterized by short stature, coarse facial features, flat nose, joint contractures, severe osteolysis in the hands and feet, and generalized osteoporosis.

100 Clinical Results associated with Winchester Syndrome

100 Translational Medicine associated with Winchester Syndrome

0 Patents (Medical) associated with Winchester Syndrome

928

Literatures (Medical) associated with Winchester Syndrome

31 Dec 2025·Veterinary Quarterly

Developing a novel TaqMan qPCR assay for optimizing Salmonella Pullorum detection in chickens

Article

Author: Li, Yan ; Wang, Haijian ; Kehrenberg, Corinna ; Yu, Longhai ; Wang, Hao ; Müller, Anja ; Kang, Xiamei ; Yue, Min

Salmonella Pullorum, the causative agent of pullorum disease, posing a significant threat to the global production of poultry meat and eggs. However, existing detection methods have substantial limitations in efficiency and accuracy. Herein, we developed a genomic deletion-targeted TaqMan qPCR assay for identification of Salmonella Pullorum, enabling precise differentiation from other Salmonella serovars. The assay's detection limit was 5 copies/μL of plasmid and 4 CFU/μL of bacterial DNA. Furthermore, we collected 676 chicken samples from an established infection model to compare the performance of the TaqMan qPCR assay with traditional bacterial culturing and antibody-based detection approaches. With superior sensitivity and specificity, the newly developed method detected over 80% of positive chickens, significantly outperforming the two conventional methods. Moreover, we proposed a combined framework that incorporates the advantages of TaqMan qPCR assay and antibody detection method, further enhancing the detection rate of positives to 92%. Additionally, to address the frequent aerosol contamination of amplification products in laboratory settings, we devised an easy-to-deploy anti-contamination system based on T7 exonuclease. Overall, the T7 exonuclease-assisted TaqMan qPCR assay will not only upgrade the current detection for pullorum disease, but also exemplify the feasibility of targeting specific genomic deletions for pathogen detection.

01 Apr 2025·Tropical Medicine & International Health

Risk factors for mortality in patients with chikungunya: A systematic review and meta‐analysis

Review

Author: Micheleto, Jose Pedro Cassemiro ; Oliveira, Michelle Jacintha Cavalcante ; Melo, Karin Araujo ; Kassar, Samir Buainain ; Veloso, Felipe Camilo Santiago

AbstractIntroductionChikungunya fever is a debilitating arthritic disease that can lead to atypical severe complications and sometimes be fatal. The risk factors for fatal outcomes of chikungunya fever have not been thoroughly studied. This systematic review and meta‐analysis aimed to identify mortality risk factors in patients with chikungunya. These findings will aid clinicians in targeting high‐risk groups with severe chikungunya for timely interventions, ultimately improving patient outcomes.ObjectiveThe objective of this study is to identify mortality risk factors in patients with chikungunya.MethodsWe conducted a systematic review and meta‐analysis by searching the MEDLINE, Embase, Cochrane, BVS, BDTD and OpenGrey databases to identify eligible observational studies on patients with chikungunya. These studies analysed mortality risk factors, providing adjusted risk measures along with their corresponding confidence intervals (CIs). We estimated the pooled weighted mean difference and 95% CIs using a random‐effects model, and the methodological quality was assessed using the Newcastle–Ottawa Scale.ResultsOur search yielded a total of 334 records. After removing duplicates, we screened 275 records, reviewed 31 full articles and included seven studies in the systematic review and four in the meta‐analysis, with a total of 220,215 patients and 908 fatal cases. Diabetes Mellitus (OR = 2.86, 95% CI 1.75–4.69), hypertension (OR = 3.10, 95% CI 2.02–4.77), age ≥ 60 years (OR = 19.49, 95% CI 1.98–191.88), chronic kidney disease (OR = 5.81, 95% CI 1.30–25.99), male sex (OR = 2.07, 95% CI 1.71–2.51) and vomiting (OR = 2.18, 95% CI 1.75–2.73) are significantly and positively associated with mortality in chikungunya.ConclusionElderly men with chronic diseases have a higher risk of death from chikungunya; therefore, they deserve more careful evaluation.

01 Feb 2025·Anticancer Research

Prognostic Significance of the Detection of Human Papilloma Virus L1 Protein in Smears of Cervical Intraepithelial Neoplasia Grade 3 in Pregnant Women

Article

Author: Beckmann, Matthias W ; Adler, Werner ; Gass, Paul ; Mehlhorn, Grit ; Schulmeyer, Carla E ; Behrens, Annika S ; Knöll, Antje ; Hilfrich, Ralf ; Dietl, Anna K ; Brueckner, Lena ; Seibold, Anja ; Stuebs, Frederik A ; Hartman, Arndt ; Schleicher, Oliver ; Geppert, Carol

BACKGROUND/AIMCervical intraepithelial neoplasia (CIN) III/high-grade squamous lesions (HSIL) remains a significant challenge during pregnancy. Current data on the course of disease are contradictory, with cases of progression to cervical cancer (CC) during pregnancy being observed. Evidence suggests that the expression of L1 capsid protein is associated with a favorable prognosis in non-pregnant women. The aim of this study was to evaluate L1 expression in pregnant women with CIN III/HSIL.PATIENTS AND METHODSBetween 2008 and 2021, the conventional PAP-smears from pregnant women were retrospectively analyzed for the expression of L1. Only women with histologically confirmed CIN III/HSIL during pregnancy were included.RESULTSA total of 161 women were included in this study; among them, 32 women (19.9%) had regressive disease postpartum. The majority of women (n=123, 76.4%) had persistent disease. In six cases, invasive CC was histologically proven postpartum (3.7%). In 113 women (70.2%) the PAP-Smears were L1- and 29.2% (n=48) of women were L1+. The rates of regression for L1+ were higher than for L1-, 25% vs. 17.7%, respectively. Rates for persistence were similar, at 75% and 78%, respectively. All cases of progression to CC were L1 negative during pregnancy.CONCLUSIONIn pregnant women, the rates of regression were higher in L1+ CIN III/HSIL cases. All women who progressed to CC were L1-. Therefore, detecting L1 expression could serve as a valuable test to rule out progression to CC in pregnant women. This approach may provide reassurance to women, allowing them to continue their pregnancies with reduced fear and anxiety about CIN III/HSIL during pregnancy.

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Winchester Syndrome

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