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Article ; Online: Applications of advanced technologies for detecting genomic structural variation.

Laufer, Vincent A / Glover, Thomas W / Wilson, Thomas E

Mutation research. Reviews in mutation research

2023 Volume 792, Page(s) 108475

Abstract: Chromosomal structural variation (SV) encompasses a heterogenous class of genetic variants that exerts strong influences on human health and disease. Despite their importance, many structural variants (SVs) have remained poorly characterized at even a ... ...

Abstract	Chromosomal structural variation (SV) encompasses a heterogenous class of genetic variants that exerts strong influences on human health and disease. Despite their importance, many structural variants (SVs) have remained poorly characterized at even a basic level, a discrepancy predicated upon the technical limitations of prior genomic assays. However, recent advances in genomic technology can identify and localize SVs accurately, opening new questions regarding SV risk factors and their impacts in humans. Here, we first define and classify human SVs and their generative mechanisms, highlighting characteristics leveraged by various SV assays. We next examine the first-ever gapless assembly of the human genome and the technical process of assembling it, which required third-generation sequencing technologies to resolve structurally complex loci. The new portions of that "telomere-to-telomere" and subsequent pangenome assemblies highlight aspects of SV biology likely to develop in the near-term. We consider the strengths and limitations of the most promising new SV technologies and when they or longstanding approaches are best suited to meeting salient goals in the study of human SV in population-scale genomics research, clinical, and public health contexts. It is a watershed time in our understanding of human SV when new approaches are expected to fundamentally change genomic applications.
MeSH term(s)	Humans ; Genomics ; Genomic Structural Variation ; Chromosome Aberrations ; Genome, Human ; Sequence Analysis, DNA
Language	English
Publishing date	2023-11-04
Publishing country	Netherlands
Document type	Journal Article ; Review
ZDB-ID	2727833-5
ISSN	1388-2139 ; 1383-5742
ISSN (online)	1388-2139
ISSN	1383-5742
DOI	10.1016/j.mrrev.2023.108475
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Article ; Online: Twin peaks: finding fragile sites with MiDAS-seq.

Glover, Thomas W / Wilson, Thomas E

Cell research

2020 Volume 30, Issue 11, Page(s) 944–945

MeSH term(s)	DNA ; DNA Replication ; Genome, Human ; Humans
Chemical Substances	DNA (9007-49-2)
Language	English
Publishing date	2020-07-12
Publishing country	England
Document type	Journal Article ; Comment
ZDB-ID	1319303-x
ISSN	1748-7838 ; 1001-0602
ISSN (online)	1748-7838
ISSN	1001-0602
DOI	10.1038/s41422-020-0376-8
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Zs.A 5283: Show issues

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Article ; Online: Arthroscopic suture bridge fixation for acute bony Bankart with anterior glenohumeral instability: a case report and narrative review.

St Jeor, Jeffery D / Mason, Thomas W / Glover, Mark A / Trasolini, Nicholas A / Waterman, Brian R

Annals of joint

2024 Volume 9, Page(s) 16

Abstract: Background and objective: Anterior shoulder dislocations can result in acute glenoid rim fractures that compromise the bony stability of the glenohumeral joint. Adequate fixation of these fractures is required to restore stability, decrease shoulder ... ...

Abstract	Background and objective: Anterior shoulder dislocations can result in acute glenoid rim fractures that compromise the bony stability of the glenohumeral joint. Adequate fixation of these fractures is required to restore stability, decrease shoulder pain, and facilitate return to activity. The double-row suture bridge is a relatively novel fixation technique, first described in 2009, that accomplishes internal fixation with sufficient stability using an all-arthroscopic technique to restore the glenoid footprint. A 40-year-old female with recurrent anterior shoulder instability in the setting of seizure disorder was found to have a bony Bankart lesion of 25% to 30% with a concomitant superior labral tear. The patient was treated with a double-row bony Bankart bridge and labral repair. At six months follow-up, she has progressed to a full recovery with no recurrence. Methods: A search was conducted in May 2023 in PubMed, EMBASE, and CINAHL with the search terms bony Bankart, bone Bankart, osseous Bankart, acute, bridge, suture bridge, double row. Key content and findings: Double-row suture bridge repairs result in improvement in shoulder function as determined by ASES (93.5), QuickDASH (4.5), SANE (95.9), and SF-12 (55.6). The overall recurrence rate of anterior instability after a bony Bankart bridge repair is 8%. When examining the return to prior level of function, 81.4% of patients were able to do so with only 7.9% of patients reporting significant modifications to their activity level. In mid-term results, double row suture bridge demonstrates similar outcomes to other all-arthroscopic fixation methods of bony Bankart injuries. Importantly, bony Bankart bridge remains a viable option for critical glenoid lesions over the 20% cutoff used in other all arthroscopic techniques. Biomechanically, the double-row suture bridge offers distinct benefits over its single-row counterpart including increased compression, reduced displacement, and reduced step-off. Conclusions: Although there is limited data, the studies discussed and the demonstrative case show the potential benefit of all-arthroscopic double-row suture bridge fixation including increased compression, decreased displacement, and a lower complication rate in patients with large bony Bankart lesions traditionally requiring bony augmentation. However, more robust studies are necessary to determine the long-term success of the double-row suture bridge.
Language	English
Publishing date	2024-04-10
Publishing country	China
Document type	Journal Article ; Review
ISSN	2415-6809
ISSN (online)	2415-6809
DOI	10.21037/aoj-23-46
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Article ; Online: svCapture: efficient and specific detection of very low frequency structural variant junctions by error-minimized capture sequencing.

Wilson, Thomas E / Ahmed, Samreen / Higgins, Jake / Salk, Jesse J / Glover, Thomas W

NAR genomics and bioinformatics

2023 Volume 5, Issue 2, Page(s) lqad042

Abstract: Error-corrected sequencing of genomic targets enriched by probe-based capture has become a standard approach for detecting single-nucleotide variants (SNVs) and small insertion/deletions (indels) present at very low variant allele frequencies. Less ... ...

Abstract	Error-corrected sequencing of genomic targets enriched by probe-based capture has become a standard approach for detecting single-nucleotide variants (SNVs) and small insertion/deletions (indels) present at very low variant allele frequencies. Less attention has been given to comparable strategies for rare structural variant (SV) junctions, where different error mechanisms must be addressed. Working from samples with known SV properties, we demonstrate that duplex sequencing (DuplexSeq), which demands confirmation of variants on both strands of a source DNA molecule, eliminates false SV junctions arising from chimeric PCR. DuplexSeq could not address frequent intermolecular ligation artifacts that arise during Y-adapter addition prior to strand denaturation without requiring multiple source molecules. In contrast, tagmentation libraries coupled with data filtering based on strand family size greatly reduced both artifact classes and enabled efficient and specific detection of single-molecule SV junctions. The throughput of SV capture sequencing (svCapture) and base-level accuracy of DuplexSeq provided detailed views of the microhomology profile and limited occurrence of
Language	English
Publishing date	2023-05-09
Publishing country	England
Document type	Journal Article
ISSN	2631-9268
ISSN (online)	2631-9268
DOI	10.1093/nargab/lqad042
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Article: Batter's Shoulder: All-Knotless Posterior Labral Repair With Retensionable Anchors for Treatment of Batter's Shoulder.

Mason, Thomas W / Glover, Mark A / Beck, Edward C / St Jeor, Jeffery D / Trasolini, Nicholas A / Waterman, Brian R

Arthroscopy techniques

2024 Volume 13, Issue 2, Page(s) 102840

Abstract: Batter's Shoulder is a unique injury that may be associated with recurrent microtrauma followed by acute subluxation of the humeral head on the posterior glenoid edge, leading to posterior labral tears. Early identification of this injury is critical, as ...

Abstract	Batter's Shoulder is a unique injury that may be associated with recurrent microtrauma followed by acute subluxation of the humeral head on the posterior glenoid edge, leading to posterior labral tears. Early identification of this injury is critical, as it may be treated with conservative nonsurgical treatments prior to labral tear onset. If conservative treatment fails and pain persists, surgical options include arthroscopic fixation to reapproximate the posterior labrum to the glenoid and restore capsular tension. Previous studies have shown the benefit of using knotless suture anchors in arthroscopic shoulder fixation. This technical note demonstrates that Batter's Shoulder is a unique injury associated with posterior labral tears of the shoulder and provides a contemporary method of arthroscopic fixation of a posterior labral tear using retensionable knotless all-suture anchors.
Language	English
Publishing date	2024-01-01
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	2653101-X
ISSN	2212-6287
ISSN	2212-6287
DOI	10.1016/j.eats.2023.09.015
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Article ; Online: Low Recurrence of Instability and Satisfying Patient-Reported Outcomes Following Various Surgical Treatments of Reverse Hill-Sachs Lesions in the Setting of Posterior Instability: A Systematic Review.

van der List, Jelle P / Glover, Mark A / Mason, Thomas W / Parikh, Nihir / Waterman, Brian R

Arthroscopy : the journal of arthroscopic & related surgery : official publication of the Arthroscopy Association of North America and the International Arthroscopy Association

2023

Abstract: Purpose: To systematically review the literature and report the outcomes of various surgical treatments for reverse Hill-Sachs lesions (RHSL) in the setting of posterior shoulder instability.: Methods: Preferred Reporting Items for Systematic Reviews ...

Abstract	Purpose: To systematically review the literature and report the outcomes of various surgical treatments for reverse Hill-Sachs lesions (RHSL) in the setting of posterior shoulder instability. Methods: Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines were followed. All studies assessing outcomes of surgical treatment of RHSL from inception to January 2023 were identified in PubMed, Embase, and Cochrane Library. Inclusion criteria consisted of studies reporting outcomes, minimum mean 1-year follow-up, and minimum Level IV evidence. Outcomes were assessed using Forest plots with random effects models using R software. Results: A total of 29 studies consisting of 291 patients were included with a mean age of 42 years (range 16-88 years), 87% male gender, and mean follow-up of 4.5 years. The mean size of impacted or affected cartilage was 35%, and time from injury to surgery was mean 15 weeks. Nearly all studies were Level IV evidence, and quality of studies was low. Random effect models were performed, and data are presented as range. A low incidence of instability was noted for all surgical techniques with good patient-reported outcome measures. Most studies reported outcomes of the modified McLaughlin procedure (13 studies, 126 patients) with overall Constant-Murley Score of 65 to 92. Trends were seen towards better Constant-Murley Score and external rotation with a shorter delay between injury, and when arthroscopic and joint preserving treatments were performed. Conclusions: This systematic review showed low rates of instability recurrence, reproducible range of motion, and favorable patient-reported outcome measures were reported following all treatments for RHSLs with posterior instability. There was a significant association between better outcomes and a shorter delay between injury and surgery. The level of evidence is limited, given the small and retrospective studies which can be explained by the rarity of these injuries. LEVEL OF EVIDENCE: Level IV; systematic review of Level IV or better investigations.
Language	English
Publishing date	2023-12-25
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	632528-2
ISSN	1526-3231 ; 0749-8063
ISSN (online)	1526-3231
ISSN	0749-8063
DOI	10.1016/j.arthro.2023.12.012
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Zs.A 2046: Show issues

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Article ; Online: Molecular biology: Breaks in the brain.

Glover, Thomas W / Wilson, Thomas E

Nature

2016 Volume 532, Issue 7597, Page(s) 46–47

MeSH term(s)	Animals ; DNA Breaks ; Humans ; Neural Stem Cells/metabolism
Language	English
Publishing date	2016-04-07
Publishing country	England
Document type	Comment ; Journal Article
ZDB-ID	120714-3
ISSN	1476-4687 ; 0028-0836
ISSN (online)	1476-4687
ISSN	0028-0836
DOI	10.1038/nature17316
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Zs.A 26: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Posterior Cruciate Ligament Reconstruction With Quadriceps Tendon Autograft and Concomitant Meniscal Ramp Repair

Mark A. Glover BS / Thomas W. Mason BS / Benjamin S. Albertson MD / Nicholas A. Trasolini MD / Brian R. Waterman MD

Video Journal of Sports Medicine, Vol

2024 Volume 4

Abstract: Background: Quadriceps autograft, though well established for anterior cruciate ligament reconstruction, is underutilized in posterior cruciate ligament (PCL) reconstruction largely due to slow adoption. All-inside meniscal ramp repair and quadriceps ... ...

Abstract	Background: Quadriceps autograft, though well established for anterior cruciate ligament reconstruction, is underutilized in posterior cruciate ligament (PCL) reconstruction largely due to slow adoption. All-inside meniscal ramp repair and quadriceps tendon autograft PCL reconstruction have been described in isolation, but not concomitantly in a video journal. Indications: PCL reconstruction is indicated in grade 3 isolated tears with instability that have not improved with nonoperative management and in instances with associated injuries such as meniscal ramp tears, as observed in this 18-year-old division I football player. Graft selection is dependent upon surgeon and patient preference, with quadriceps autograft delivering a viable option with desirable long-term outcomes. Technique Description: A partial-thickness quadriceps tendon autograft was harvested, the remnant PCL stump was debrided, and a reamer was used to drill the all-inside tibial tunnel for traction suture passage. An accessory low anterolateral portal was utilized to drill the femoral tunnel for passage of the femoral traction stitch. Traction sutures were withdrawn, and the graft was passed into the tibia, docked into the femur, fixated with an interference screw, and tensioned over the tibial button. A medial meniscal ramp tear was also identified and repaired in all-inside fashion with a 90° SutureLasso, polydioxanone suture (PDS), and suturetape via standard arthroscopic knot tying. Following the procedure, the patient began a PCL reconstruction rehabilitation protocol with a PCL rebound brace. Due to the meniscal ramp repair, toe touch weightbearing with the knee in extension during ambulation was completed for 6 weeks. Physical therapy (PT) focused on early quadriceps and patellar mobilization as well as active-assisted range of motion exercises. Results: At 6 months postoperation, the patient continued to progress in PT without major concerns. A full recovery and return to sport are expected approximately 9 to 12 months after surgery, ...
Keywords	Sports medicine ; RC1200-1245 ; Orthopedic surgery ; RD701-811
Subject code	796
Language	English
Publishing date	2024-01-01T00:00:00Z
Publisher	SAGE Publishing
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Centenaro, Giada / Glover, Beverley J. / Piermattei, Alma / Thomas, Paul W. / Čejka, Tomáš / Büntgen, Ulf

Plants, People, Planet. 2023 May, v. 5, no. 3 p.329-334

2023

Abstract: Botanic gardens offer unique opportunities for unravelling responses of plant life to climate change. Despite investigations into their aboveground sphere, the belowground realm is usually neglected. Cambridge University Botanic Garden now illuminates ... ...

Abstract	Botanic gardens offer unique opportunities for unravelling responses of plant life to climate change. Despite investigations into their aboveground sphere, the belowground realm is usually neglected. Cambridge University Botanic Garden now illuminates the hidden world of one of the most sought‐after culinary delicacies—the Burgundy truffle. The garden's plant diversity, the serendipity of a truffle dog, and our curiosity‐driven research agenda reveal insights into 278 truffle fruitbodies that grew symbiotically with an unusually high number of host species. Our study reinforces the power of botanic gardens to disentangle ecosystem processes and emphasizes the proximity of scientific and public interests in truffles.
Keywords	Tuber aestivum ; botanical gardens ; climate change ; dogs ; ecosystems ; fruiting bodies ; hosts ; species diversity ; truffles
Language	English
Dates of publication	2023-05
Size	p. 329-334.
Publishing place	John Wiley & Sons, Ltd
Document type	Article ; Online
Note	Case Reports
ISSN	2572-2611
DOI	10.1002/ppp3.10356
Database	NAL-Catalogue (AGRICOLA)

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Article: How Much Volume Should Healthcare Ethics Consult Services Have?

Glover, Avery C / Cunningham, Thomas V / Sterling, Evelina W / Lesandrini, Jason

The Journal of clinical ethics

2020 Volume 31, Issue 2, Page(s) 158–172

Abstract: Background: No standard method exists to assess how many consults a healthcare ethics consultation (HCEC) service should perform. To address this, we developed a method to estimate the volume of HCEC services based on a mixed-methods approach that ... ...

Abstract	Background: No standard method exists to assess how many consults a healthcare ethics consultation (HCEC) service should perform. To address this, we developed a method to estimate the volume of HCEC services based on a mixed-methods approach that included a systematic review and survey data on the volume of consult services requested. Methods: Our investigation included a systematic review of studies that reported the volume of HCEC services that were requested from 2000 to 2017, institutional surveys, and statistical analyses that estimated the volume of HCEC services that were adjusted to the size of the hospitals in the survey and to population acuity. Results: We contacted the authors of 19 studies that met our inclusion criteria; 17 authors responded to the institutional survey and five provided annualized data points. We found that standard methods of reporting the volume of HCEC services led to inaccuracies in estimating the growth of HCEC services over time. To rectify this, we proposed two means to estimate volume based on either the service goals of HCEC services or hospital size and acuity. Discussion: The statistical limitations of our study highlight the need to standardize the sharing and reporting of data in clinical ethics. Future work should further standardize methods of HCEC quality assessment using measures similar to those we describe.
MeSH term(s)	Bioethics ; Delivery of Health Care ; Ethics Consultation ; Hospitals ; Humans ; Quality Assurance, Health Care
Language	English
Publishing date	2020-06-16
Publishing country	United States
Document type	Journal Article ; Systematic Review
ZDB-ID	1122655-9
ISSN	1046-7890
ISSN	1046-7890
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