scholarly journals A New Pathological Classification of Lumbar Disc Protrusion and Its Clinical Significance

2015 ◽  
Vol 7 (1) ◽  
pp. 1-12 ◽  
Author(s):  
Xin-long Ma
Keyword(s):  
Clinical Significance ◽  
Lumbar Disc ◽  
Disc Protrusion ◽  
Pathological Classification

Primary tracheal leiomyosarcoma

2000 ◽  
Vol 114 (1) ◽  
pp. 64-66
Author(s):  
Kathrin Reichert ◽  
Kai Helling ◽  
Hans Dietrich Menssen ◽  
Alejandra Perez-Canto ◽  
Hans Scherer
Keyword(s):  
Complete Remission ◽  
Female Patient ◽  
Clinical Course ◽  
Diagnostic Approach ◽  
Pathological Classification ◽  
Therapeutic Procedures

We present the clinical course of a 56-year-old female patient with a primary tracheal leiomyosarcoma. The diagnostic approach and pathological classification of this seldom described tumour remains extremely difficult. We discuss the symptoms as well as the diagnostic and therapeutic procedures, including multimodal chemotherapy with organ-preserving surgery leading to complete remission.

New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)

2018 ◽  
Vol 55 (8) ◽  
pp. 530-537 ◽  
Author(s):  
Marielle E Van Gijn ◽  
Isabella Ceccherini ◽  
Yael Shinar ◽  
Ellen C Carbo ◽  
Mariska Slofstra ◽  
...  
Keyword(s):  
Clinical Significance ◽  
Clinical Symptoms ◽  
Inflammatory Diseases ◽  
International Study ◽  
Biological Drugs ◽  
Link Type ◽  
Expert Opinions ◽  
Mutational Hotspots ◽  
Almost All

BackgroundHereditary recurrent fevers (HRFs) are rare inflammatory diseases sharing similar clinical symptoms and effectively treated with anti-inflammatory biological drugs. Accurate diagnosis of HRF relies heavily on genetic testing.ObjectivesThis study aimed to obtain an experts’ consensus on the clinical significance of gene variants in four well-known HRF genes: MEFV, TNFRSF1A, NLRP3 and MVK.MethodsWe configured a MOLGENIS web platform to share and analyse pathogenicity classifications of the variants and to manage a consensus-based classification process. Four experts in HRF genetics submitted independent classifications of 858 variants. Classifications were driven to consensus by recruiting four more expert opinions and by targeting discordant classifications in five iterative rounds.ResultsConsensus classification was reached for 804/858 variants (94%). None of the unsolved variants (6%) remained with opposite classifications (eg, pathogenic vs benign). New mutational hotspots were found in all genes. We noted a lower pathogenic variant load and a higher fraction of variants with unknown or unsolved clinical significance in the MEFV gene.ConclusionApplying a consensus-driven process on the pathogenicity assessment of experts yielded rapid classification of almost all variants of four HRF genes. The high-throughput database will profoundly assist clinicians and geneticists in the diagnosis of HRFs. The configured MOLGENIS platform and consensus evolution protocol are usable for assembly of other variant pathogenicity databases. The MOLGENIS software is available for reuse at http://github.com/molgenis/molgenis; the specific HRF configuration is available at http://molgenis.org/said/. The HRF pathogenicity classifications will be published on the INFEVERS database at https://fmf.igh.cnrs.fr/ISSAID/infevers/.

An MRI study of the treatment of lumbar disc protrusion by percutaneous nucleotomy

1991 ◽  
pp. 484-485
Author(s):  
R. W. Kerslake ◽  
A. North ◽  
R. G. Mulholland ◽  
B. S. Worthington
Keyword(s):  
Lumbar Disc ◽  
Disc Protrusion ◽  
Mri Study

The Effect of Faxet Geometry on Unilateral Lumbar Disc Protrusion

1991 ◽  
Vol 26 (3) ◽  
pp. 673
Author(s):  
Myung Sang Moon ◽  
Kyu Sung Lee ◽  
Chang Whan Han
Keyword(s):  
Lumbar Disc ◽  
Disc Protrusion
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