Reverse Perilunate Injuries—The “Extended Scaphoid” Sign

2021 ◽  
Author(s):  
Guillaume Herzberg ◽  
Marion Burnier ◽  
Thibault Druel
Keyword(s):  
Rare Variants ◽  
Extended Position

Abstract Background Reverse perilunate injuries (REPLI) are rare variants of the classic radial-sided perilunate injuries (PLI) whose mechanism was described by Mayfield in 1980. Classic radial-sided nontranscaphoid dorsal PLI invariably display a flexed, foreshortened position of the scaphoid on their initial posteroanterior (PA) and lateral radiographs. We observed that some dorsal perilunate dislocations displayed an extended position of the scaphoid on their initial radiographs. Our hypothesis is that this extended position of the scaphoid was associated with a REPLI pattern. Methods The PA and lateral initial emergency radiographs of our specialized wrist surgery series of 114 dorsal pure ligamentous PLI (within a 186 cases series of PLI treated between 2004 and 2020) were reviewed as well as the available figures of the current REPLI literature. Results A total of seven cases of cases within our dorsal PLI series displayed an extended position of the scaphoid on their initial PA and lateral radiographs, while 107 cases displayed a flexed, foreshortened position. The PA and lateral radiographs available in the REPLI literature displayed an extended position of the scaphoid, a lunotriquetral dissociation, and a dorsal dislocation of the capitate with respect to the lunate. Discussion This study confirms our hypothesis. By contrast to the dorsal classic radial-sided pure ligamentous PLI pattern of scaphoid displacement (scaphoid flexed and foreshortened with scapholunate gap), the dorsal REPLI pattern displays an extended position of the scaphoid with scapholunate step-off and overlap rather than a gap. The combination of a lunotriquetral dissociation with a dorsal dislocation of the capitate from the lunate yet an extended position of the scaphoid with almost normal radioscaphoid relationships should raise a high suspicion for REPLI.

scholarly journals Rare Variants Imputation in Admixed Populations: Comparison Across Reference Panels and Bioinformatics Tools

2019 ◽  
Vol 10 ◽  
Author(s):  
Sanjeev Sariya ◽  
Joseph H. Lee ◽  
Richard Mayeux ◽  
Badri N. Vardarajan ◽  
Dolly Reyes-Dumeyer ◽  
...  
Keyword(s):  
Rare Variants ◽  
Bioinformatics Tools

scholarly journals Hunting for Familial Parkinson’s Disease Mutations in the Post Genome Era

Genes ◽  
2021 ◽  
Vol 12 (3) ◽  
pp. 430
Author(s):  
Steven R. Bentley ◽  
Ilaria Guella ◽  
Holly E. Sherman ◽  
Hannah M. Neuendorf ◽  
Alex M. Sykes ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Family History ◽  
Rare Variants ◽  
Strong Family History ◽  
Disease Mutations ◽  
Whole Exome ◽  
History Of ◽  
Functional Consequences ◽  
Multiplex Families

Parkinson’s disease (PD) is typically sporadic; however, multi-incident families provide a powerful platform to discover novel genetic forms of disease. Their identification supports deciphering molecular processes leading to disease and may inform of new therapeutic targets. The LRRK2 p.G2019S mutation causes PD in 42.5–68% of carriers by the age of 80 years. We hypothesise similarly intermediately penetrant mutations may present in multi-incident families with a generally strong family history of disease. We have analysed six multiplex families for missense variants using whole exome sequencing to find 32 rare heterozygous mutations shared amongst affected members. Included in these mutations was the KCNJ15 p.R28C variant, identified in five affected members of the same family, two elderly unaffected members of the same family, and two unrelated PD cases. Additionally, the SIPA1L1 p.R236Q variant was identified in three related affected members and an unrelated familial case. While the evidence presented here is not sufficient to assign causality to these rare variants, it does provide novel candidates for hypothesis testing in other modestly sized families with a strong family history. Future analysis will include characterisation of functional consequences and assessment of carriers in other familial cases.

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