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1.
Cell ; 173(6): 1356-1369.e22, 2018 05 31.
Artículo en Inglés | MEDLINE | ID: mdl-29856954

RESUMEN

Genetic changes causing brain size expansion in human evolution have remained elusive. Notch signaling is essential for radial glia stem cell proliferation and is a determinant of neuronal number in the mammalian cortex. We find that three paralogs of human-specific NOTCH2NL are highly expressed in radial glia. Functional analysis reveals that different alleles of NOTCH2NL have varying potencies to enhance Notch signaling by interacting directly with NOTCH receptors. Consistent with a role in Notch signaling, NOTCH2NL ectopic expression delays differentiation of neuronal progenitors, while deletion accelerates differentiation into cortical neurons. Furthermore, NOTCH2NL genes provide the breakpoints in 1q21.1 distal deletion/duplication syndrome, where duplications are associated with macrocephaly and autism and deletions with microcephaly and schizophrenia. Thus, the emergence of human-specific NOTCH2NL genes may have contributed to the rapid evolution of the larger human neocortex, accompanied by loss of genomic stability at the 1q21.1 locus and resulting recurrent neurodevelopmental disorders.


Asunto(s)
Encéfalo/embriología , Corteza Cerebral/fisiología , Neurogénesis/fisiología , Receptor Notch2/metabolismo , Transducción de Señal , Animales , Diferenciación Celular , Células Madre Embrionarias/metabolismo , Femenino , Eliminación de Gen , Genes Reporteros , Gorilla gorilla , Células HEK293 , Humanos , Neocórtex/citología , Células-Madre Neurales/metabolismo , Neuroglía/metabolismo , Neuronas/metabolismo , Pan troglodytes , Receptor Notch2/genética , Análisis de Secuencia de ARN
2.
Genome Res ; 34(3): 454-468, 2024 Apr 25.
Artículo en Inglés | MEDLINE | ID: mdl-38627094

RESUMEN

Reference-free genome phasing is vital for understanding allele inheritance and the impact of single-molecule DNA variation on phenotypes. To achieve thorough phasing across homozygous or repetitive regions of the genome, long-read sequencing technologies are often used to perform phased de novo assembly. As a step toward reducing the cost and complexity of this type of analysis, we describe new methods for accurately phasing Oxford Nanopore Technologies (ONT) sequence data with the Shasta genome assembler and a modular tool for extending phasing to the chromosome scale called GFAse. We test using new variants of ONT PromethION sequencing, including those using proximity ligation, and show that newer, higher accuracy ONT reads substantially improve assembly quality.


Asunto(s)
Nanoporos , Humanos , Análisis de Secuencia de ADN/métodos , Secuenciación de Nanoporos/métodos , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Programas Informáticos , Genómica/métodos
3.
Nat Methods ; 20(10): 1483-1492, 2023 10.
Artículo en Inglés | MEDLINE | ID: mdl-37710018

RESUMEN

Long-read sequencing technologies substantially overcome the limitations of short-reads but have not been considered as a feasible replacement for population-scale projects, being a combination of too expensive, not scalable enough or too error-prone. Here we develop an efficient and scalable wet lab and computational protocol, Napu, for Oxford Nanopore Technologies long-read sequencing that seeks to address those limitations. We applied our protocol to cell lines and brain tissue samples as part of a pilot project for the National Institutes of Health Center for Alzheimer's and Related Dementias. Using a single PromethION flow cell, we can detect single nucleotide polymorphisms with F1-score comparable to Illumina short-read sequencing. Small indel calling remains difficult within homopolymers and tandem repeats, but achieves good concordance to Illumina indel calls elsewhere. Further, we can discover structural variants with F1-score on par with state-of-the-art de novo assembly methods. Our protocol phases small and structural variants at megabase scales and produces highly accurate, haplotype-specific methylation calls.


Asunto(s)
Genoma Humano , Secuenciación de Nanoporos , Humanos , Análisis de Secuencia de ADN/métodos , Haplotipos , Metilación , Proyectos Piloto , Secuenciación de Nucleótidos de Alto Rendimiento/métodos
4.
Arthroscopy ; 40(4): 1325-1339, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-37714441

RESUMEN

PURPOSE: To assess return to sport (RTS) in the high-risk young athlete population with capitellar osteochondritis dissecans (OCD) undergoing arthroscopic microfracture (MFX) with or without debridement as well as associated indications, clinical outcomes, radiographic outcomes, and complications. METHODS: A literature search of all published literature in the English language from PubMed, EMBASE, Scopus, and Cochrane from database inception to April 4, 2022, was performed following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Included studies presented demographics and outcomes for adolescent (<21 years old) patients diagnosed with capitellar OCD who underwent arthroscopic MFX (or drilling/subchondral drilling) or MFX (or drilling/subchondral drilling) with debridement (or loose body removal/chondroplasty). Studies containing multiple surgical techniques that did not distinguish characteristics and outcomes of individual patients by surgical technique were excluded. Additionally, if there was overlap in patient populations between 2 studies, the study with less outcome data was excluded. Extracted data included study properties, patient demographics, lesion characteristics, surgery details, and patient outcomes, including range of motion, outcome scores, and RTS rates. Bias was assessed via the Methodological Index for Non-Randomized Studies (MINORS). RESULTS: Nine studies of 136 patients and 138 elbows met criteria. Included articles were published between 2005 and 2020 with MINORS scores of 8 to 14 (50% to 88%). The age ranged from 12.7 to 15.7 years with most patients being involved in baseball or gymnastics and a rate of dominant elbow involvement of 55% to 100%. Patient follow-up ranged from 16 to 138 months. All 9 studies reported RTS, ranging from 65% to 100%. Six of these studies categorized the level to which the patient returned, with patients RTS at the same level of competition ranging from 60% to 100%. Six studies reported complications, with a range rate of 0% to 43%; there were a total of 10 complications, 7 of which required reoperations. CONCLUSIONS: Arthroscopic MFX with or without arthroscopic debridement is a safe and effective treatment for OCD lesions of the capitellum in young, athletic patients. Included studies reported improved clinical, radiographic, and patient-reported outcomes. Aside from 1 study reporting an RTS of 65%, the rate of RTS ranged from 86% to 100%. The percentage of patients returning to sport at the same level of competition ranged from 60% to 100% with a time to RTS ranging from 4.1 to 5 months. A single study reported a complication rate of 43%, while remaining studies reported complication rates between 0% and 19%, with loose bodies being the most common complication requiring reoperation. Follow-up ranged from 16 to 138 months. LEVEL OF EVIDENCE: Level IV, systematic review of Level IV studies.


Asunto(s)
Articulación del Codo , Fracturas por Estrés , Cuerpos Libres Articulares , Osteocondritis Disecante , Volver al Deporte , Adolescente , Niño , Humanos , Adulto Joven , Artroscopía , Atletas , Articulación del Codo/cirugía , Cuerpos Libres Articulares/cirugía , Osteocondritis Disecante/cirugía , Deportes , Resultado del Tratamiento
5.
Curr Sports Med Rep ; 23(3): 86-104, 2024 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-38437494

RESUMEN

ABSTRACT: Musculoskeletal injuries occur frequently in sport during practice, training, and competition. Injury assessment and management are common responsibilities for the team physician. Initial Assessment and Management of Musculoskeletal Injury-A Team Physician Consensus Statement is title 23 in a series of annual consensus documents written for the practicing team physician. This statement was developed by the Team Physician Consensus Conference, an annual project-based alliance of six major professional associations. The goal of this document is to help the team physician improve the care and treatment of the athlete by understanding the initial assessment and management of selected musculoskeletal injuries.


Asunto(s)
Médicos , Deportes , Humanos , Atletas , Consenso , Examen Físico
6.
Eur J Orthop Surg Traumatol ; 33(7): 3037-3042, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-36995391

RESUMEN

PURPOSE: Various fixation techniques have been described for midshaft clavicle fractures in the literature. We hypothesized that use of the Rockwood pin for fixation of displaced midshaft clavicle fractures would result in favorable outcomes in a young active cohort. METHODS: Patients aged 10-35 years who underwent Rockwood clavicle pin fixation at a single institution were identified. Preoperative and postoperative radiographs were reviewed and assessed for fracture characteristics, postoperative alignment, and radiographic union. Postoperative outcome scores were obtained. RESULTS: A total of 39 patients (age 17.3 ± 3.9 years) with clavicle fracture treated with Rockwood pin were identified. Radiographic review demonstrated that 88% of fractures were 100%, or more, displaced, and surgery achieved near-anatomic reduction in 92% of cases. Average time to radiographic union was 2.3 ± 0.8 months, and average time to clinical union was 2.5 ± 0.3 months. One patient required revision for nonunion (3%). Complete outcome responses were obtained for 24 patients, with an average 40 ± 27.7 months of follow-up. Mean Total Clavicle Functional score was 2.75 ± 3.6 for minor patients. For adult patients, Nottingham Clavicle score was 90.7 ± 10.7, mean American Shoulder and Elbow Society score was 92.4 ± 11.2, and mean Single Assessment Numerical Evaluation score was 88.8 ± 21.5. 77% of adults reported no long-term functional limitation; 54% reported a bump at the prior fracture site, but 100% reported satisfaction with shoulder appearance. CONCLUSIONS: In our cohort of young active patients, treatment with Rockwood pin allowed for anatomic reduction, healing with a low nonunion rate, and favorable patient reported outcomes.


Asunto(s)
Fijación Intramedular de Fracturas , Fracturas Óseas , Adulto , Humanos , Clavícula/diagnóstico por imagen , Clavícula/cirugía , Curación de Fractura/fisiología , Fracturas Óseas/diagnóstico por imagen , Fracturas Óseas/cirugía , Fracturas Óseas/etiología , Fijación Intramedular de Fracturas/efectos adversos , Reoperación , Resultado del Tratamiento , Fijación Interna de Fracturas , Estudios Retrospectivos
7.
J Shoulder Elbow Surg ; 28(10): 1848-1853, 2019 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-31300367

RESUMEN

BACKGROUND: Reducing intraoperative wound contamination is a critical preventive strategy for reducing the risk of prosthetic joint infection in shoulder arthroplasty. The aim of this study was to investigate the potential microbial colonization of subscapularis tagging sutures during shoulder arthroplasty. METHODS: In this prospective study, 50 consecutive patients undergoing primary shoulder arthroplasty (anatomic or reverse) were enrolled. Patients with revision shoulder arthroplasty and proximal humeral fractures were excluded. Nonabsorbable, braided tagging sutures were placed through the subscapularis tendon prior to tenotomy. A similar nonabsorbable, braided suture (control) was placed in a sterile container on the back table, open to the operating room environment. Subscapularis tagging sutures (experimental specimens) and control sutures were collected prior to subscapularis tenotomy repair and submitted for aerobic and anaerobic cultures. Cultures were held for 21 days to account for extended growth of slow-growing bacteria. RESULTS: A total of 12 of 50 experimental and 16 of 50 control sutures had positive cultures. Staphylococcus epidermidis and Cutibacterium acnes were the 2 most commonly isolated organisms. Active tobacco use (P = .038) and procedure length (P = .03) were significantly associated with positive cultures. No significant association between positive subscapularis tagging suture cultures and positive control cultures was found (P = .551). Patient age, sex, body mass index, and significant medical comorbidities were not significantly associated with positive cultures. DISCUSSION: Subscapularis tagging sutures are a potential source of microbial contaminant in shoulder arthroplasty, and we recommend exchanging the tagging suture with a suture opened immediately prior to subscapularis repair.


Asunto(s)
Artroplastía de Reemplazo de Hombro/efectos adversos , Infecciones Relacionadas con Prótesis/prevención & control , Suturas/microbiología , Anciano , Artroplastía de Reemplazo de Hombro/instrumentación , Femenino , Humanos , Masculino , Persona de Mediana Edad , Tempo Operativo , Propionibacterium acnes/aislamiento & purificación , Estudios Prospectivos , Infecciones Relacionadas con Prótesis/microbiología , Factores de Riesgo , Manguito de los Rotadores/cirugía , Staphylococcus epidermidis/aislamiento & purificación , Suturas/efectos adversos , Tenotomía , Uso de Tabaco
9.
Int Orthop ; 40(6): 1329-34, 2016 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-27055447

RESUMEN

PURPOSE: Cervical disc replacement has become an acceptable alternative to anterior cervical fusion for the surgical treatment of cervical spine spondylosis resulting in radiculopathy or myelopathy following anterior discectomy and decompression. This concise overview considers the current state of knowledge regarding the continued debate of the role of cervical disc replacement with an update in light of the latest clinical trial results. METHODS: A literature review was performed identifying clinical trials pertaining to the use of cervical disc replacement compared to cervical discectomy and fusion. Single level disease and two level disease were considered. Outcome data from the major clinical trials was reviewed and salient points identified. RESULTS: With lengthier follow-up data becoming available, the equivalence of CDR in appropriately selected cases is becoming clear. This is chiefly manifested by reduced re-operation rates and reduced incidence of adjacent level disease in those treated with arthroplasty. CONCLUSION: Cervical disc replacement shows emerging equivalence in outcomes compared to the gold standard anterior cervical discectomy and fusion. Further longer term results are anticipated to confirm this trend.


Asunto(s)
Vértebras Cervicales/cirugía , Discectomía/métodos , Fusión Vertebral/métodos , Reeemplazo Total de Disco/métodos , Descompresión Quirúrgica/métodos , Discectomía/efectos adversos , Femenino , Humanos , Masculino , Enfermedades de la Médula Espinal/cirugía , Fusión Vertebral/efectos adversos , Reeemplazo Total de Disco/efectos adversos , Resultado del Tratamiento
10.
Int J Sports Phys Ther ; 19(7): 898-909, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38966832

RESUMEN

Introduction: Adductor-related groin pain involves an injury to the common aponeurosis connecting the rectus abdominus and adductor longus to the pubis. It commonly occurs in sports that require cutting and pivoting and can result in significant loss of playing time. Platelet-Rich Plasma (PRP) is often indicated for treatment of musculoskeletal disorders and may represent an alternative treatment for patients with adductor-related groin pain. The purpose of this case report is to describe the non-surgical management of adductor-related groin pain in a competitive soccer player with a with an ultrasound (US)-guided PRP injection and physical therapy management. Case Description: A 17-year-old male competitive soccer player with right-sided adductor-related groin pain was treated with an US-guided PRP and a multi-phased physical therapy regimen based on tissue healing and individual patient/criteria progression. The patient completed 12 physical therapy sessions over six weeks post PRP injection. Outcomes: At the end of treatment, clinically meaningful improvements were observed in pain intensity, passive range of motion, strength (handheld dynamometry, Biodex), functional tests, psychosocial (OSPRO-YF) and patient-reported outcomes (HAGOS, LEFS). The subject returned to sport at six weeks post injection without limitation and at three months follow up, the subject reported that he had returned to 95% of his previous level of play. Discussion: This case report may offer support for PRP as an alternative treatment in the management of adductor-related groin pain. Incorporation of PRP as an adjunct to physical therapy led to improvements on all outcomes that surpassed the clinical significance change criteria. Level of evidence: 5.

11.
Sports Health ; : 19417381241258479, 2024 Jun 13.
Artículo en Inglés | MEDLINE | ID: mdl-38868935

RESUMEN

A Division I baseball pitcher presented with chronic forearm pain in his throwing arm while pitching. Physical examination was remarkable for point tenderness over the radial tunnel. A postexertion magnetic resonance imaging (MRI) scan revealed edema around the posterior interosseous nerve. The patient underwent decompression of the nerve along with radial tunnel release, which resulted in full resolution of symptoms and return to full baseball activities. Radial tunnel syndrome is a rare phenomenon but can occur in throwing athletes. MRI immediately after a pitching session aided in accurate diagnosis and successful surgical management.

12.
Orthop J Sports Med ; 12(4): 23259671241243303, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38646603

RESUMEN

Background: The need for capsular closure during arthroscopic hip labral repair is debated. Purpose: To compare pain and functional outcomes in patients undergoing arthroscopic hip labral repair with concomitant repair or plication of the capsule versus no closure. Study Design: Cohort study. Methods: Outcomes were compared between patients undergoing arthroscopic hip labral repair with concomitant repair or plication of the capsule versus no closure at up to 2 years postoperatively and with stratification by age and sex. Patients with lateral center-edge angle <20°, a history of instability, a history of prior arthroscopic surgery in the ipsilateral hip, or a history of labral debridement only were excluded. Subanalysis was performed between patients undergoing no capsular closure who were propensity score matched 1:1 with patients undergoing repair or plication based on age, sex, and preoperative Modified Harris Hip Score (MHHS). We compared patients who underwent T-capsulotomy with concomitant capsular closure matched 1:5 with patients who underwent an interportal capsulotomy with concomitant capsular repair based on age, sex, and preoperative MHHS. Results: Patients undergoing capsular closure (n = 1069), compared with the no-closure group (n = 230), were more often female (68.6% vs 53.0%, respectively; P < .001), were younger (36.4 ± 13.3 vs 47.9 ± 14.7 years; P < .001), and had superior MHHS scores at 2 years postoperatively (85.8 ± 14.5 vs 81.8 ± 18.4, respectively; P = .020). In the matched analysis, no difference was found in outcome measures between patients in the capsular closure group (n = 215) and the no-closure group (n = 215) at any follow-up timepoint. No significant difference was seen between the 2 closure techniques at any follow-up timepoint. Patients with closure of the capsule achieved the minimal clinically important difference (MCID) and the patient acceptable symptom state (PASS) for the 1-year MHHS at a similar rate as those without closure (MCID, 50.3% vs 44.9%, P = .288; PASS, 56.8% vs 51.1%, P = .287, respectively). Patients with T-capsulotomy achieved the MCID and the PASS for the 1-year MHHS at a similar rate compared with those with interportal capsulotomy (MCID, 50.1% vs 44.9%, P = .531; PASS, 65.7% vs 61.2%, P = .518, respectively). Conclusion: When sex, age, and preoperative MHHS were controlled, capsular closure and no capsular closure after arthroscopic hip labral repair were associated with similar pain and functional outcomes for patients up to 2 years postoperatively.

13.
Med Sci Sports Exerc ; 56(3): 385-401, 2024 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-37847756

RESUMEN

ABSTRACT: Musculoskeletal injuries occur frequently in sport during practice, training, and competition. Injury assessment and management are common responsibilities for the team physician. Initial Assessment and Management of Musculoskeletal Injury-A Team Physician Consensus Statement is title 23 in a series of annual consensus documents written for the practicing team physician. This statement was developed by the Team Physician Consensus Conference, an annual project-based alliance of six major professional associations. The goal of this document is to help the team physician improve the care and treatment of the athlete by understanding the initial assessment and management of selected musculoskeletal injuries.


Asunto(s)
Traumatismos en Atletas , Médicos , Medicina Deportiva , Humanos , Traumatismos en Atletas/diagnóstico , Traumatismos en Atletas/terapia
14.
Sports Health ; : 19417381241249125, 2024 May 03.
Artículo en Inglés | MEDLINE | ID: mdl-38702939

RESUMEN

CONTEXT: Elbow medial ulnar collateral ligament (UCL) injuries have become increasingly common in athletes. Despite this, rehabilitation protocols appear to vary drastically, which may explain the clinical equipoise regarding optimal management. OBJECTIVE: This systematic review reports rehabilitation characteristics reported after UCL injuries and compares reported outcomes based on early versus delayed rehabilitation. DATA SOURCES: Our search utilized PubMed/MEDLINE, Embase, Web of Science, and Cochrane to identify all articles on UCL rehabilitation published between January 1, 2002 and October 1, 2022. STUDY SELECTION: Studies in English with ≥5 patients that reported rehabilitation protocols for UCL injuries were evaluated. STUDY DESIGN: Systematic review. LEVEL OF EVIDENCE: Level 4. DATA EXTRACTION: Data included sample characteristics, time to achieve physical therapy milestones, outcome scores, and return-to-play (RTP) rate and timing. RESULTS: Our review included 105 articles with a total of 15,928 elbows (98% male; weighted mean age, 23 years; follow-up, 47 months), with 15,077 treated operatively and 851 treated nonoperatively. The weighted mean time patients spent adhering to nonweightbearing status was 42 days. The mean time until patients were given clearance for active range of motion (ROM) 15 days, full ROM 40 days, and elbow strengthening exercises 32 days. The mean time until all restrictions were lifted was 309 days. The mean time to begin a throwing program was 120 days. Across all rehabilitation characteristics, protocols for patients undergoing nonoperative management started patients on rehabilitation earlier. After UCL reconstruction, earlier active ROM (≤14 days), elbow strengthening (≤30 days), no restrictions (≤180 days), and throwing (≤120 days) postoperatively led to earlier RTP without a negative effect on functional outcome scores. CONCLUSION: Current literature provides a spectrum of protocols for elbow UCL rehabilitation, regardless of management. Nonoperative patients began ROM activities, strengthening, and throwing programs sooner than operative patients, and earlier milestones led to earlier RTP.

15.
JBJS Case Connect ; 13(3)2023 07 01.
Artículo en Inglés | MEDLINE | ID: mdl-37708318

RESUMEN

CASE: A 53-year-old man presented with simultaneous, bilateral proximal hamstring ruptures. He underwent open, staged surgical repair of the proximal hamstrings, followed by a modified course of rehabilitation. At 2-year follow-up, the patient reports excellent outcomes. CONCLUSION: Simultaneous, bilateral, 3-tendon rupture of the proximal hamstrings is a rare lower extremity injury. Surgical treatment of such injuries presents several unique challenges. Staged surgical repair is an effective treatment option.


Asunto(s)
Músculos Isquiosurales , Traumatismos de los Tendones , Masculino , Humanos , Persona de Mediana Edad , Músculos Isquiosurales/cirugía , Traumatismos de los Tendones/cirugía
16.
JBJS Rev ; 11(10)2023 10 01.
Artículo en Inglés | MEDLINE | ID: mdl-37871155

RESUMEN

BACKGROUND: Orthopedic surgery is among the least diverse specialties in medicine. This systematic review analyzes gender, racial, and ethnic diversity within orthopedic sports medicine and aims to raise awareness and provide guidance for future strategies that support underrepresented minorities in medicine (URMs) and women in joining the orthopedic sports medicine workforce. We hypothesize that at all tiers of training, there is a lack of gender, racial, and ethnic parity in academic rank, leadership positions, and research productivity. METHODS: A search of all published literature in the English language from PubMed, Embase, Cochrane, and Scopus databases, between January 1, 2010, and August 18, 2023, was performed according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Included studies presented demographics regarding diversity within orthopedic sports medicine and provided trends in applicants, attendings, leadership, and/or research. Bias was assessed using the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) study checklist. RESULTS: Thirteen studies published between 2016 and 2023 with STROBE scores 15.5 to 21.5 (70.5% to 97.7%) met criteria, and pertinent data were extracted. The percent of female orthopedic sports medicine surgeons from 2010 to 2019 increased from 5% (n = 138) to 6% (n = 206) with a compound annual growth rate of 0.2% (r2 = 0.97; p < 0.001). Females and URMs are underrepresented at the highest levels of orthopedic sports medicine leadership including department chair (female: 0% [n = 0]), division chief (female: 4% [n = 4]; URM: 3% [n = 3]), and fellowship director (female: 3.3% [n = 3]; URM: 4.4% [n = 4]). Studies from prominent orthopedic sports medicine journals (American Journal of Sports Medicine, Arthroscopy, Journal of Shoulder and Elbow Surgery, and Sports Health) show a 12.1% increase in female involvement in orthopedic sports medicine research from 1972 to 2018; however, this increase captures 59.3% (n = 2,953) females with degrees other than an MD. CONCLUSIONS: Although increasingly more females and underrepresented minorities are joining orthopedic sports medicine, the rate of diversification remains slow and current involvement in leadership and research is minimal. Targeted efforts aimed at increasing research opportunities and inspiring interest through mentorship for URMs and females in orthopedics is essential to drive change toward parity. LEVEL OF EVIDENCE: Level IV. Systematic Review. See Instructions for Authors for a complete description of levels of evidence.


Asunto(s)
Cirujanos Ortopédicos , Ortopedia , Medicina Deportiva , Humanos , Femenino , Estados Unidos , Artroscopía , Publicaciones
17.
Orthop J Sports Med ; 11(6): 23259671231180173, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-37359975

RESUMEN

Background: Studies to date comparing biceps tenodesis methods in the setting of concomitant rotator cuff repair (RCR) have demonstrated relatively equivalent pain and functional outcomes. Purpose: To compare biceps tenodesis constructs, locations, and techniques in patients who underwent RCR using a large multicenter database. Study Design: Cohort study; Level of evidence, 3. Methods: A global outcome database was queried for patients with medium- and large-sized tears who underwent biceps tenodesis with RCR between 2015 and 2021. Patients ≥18 years of age with a minimum follow-up of 1 year were included. The American Shoulder and Elbow Surgeons, Single Assessment Numeric Evaluation, visual analog scale for pain, and Veterans RAND 12-Item Health Survey (VR-12) scores were compared at 1 and 2 years of follow-up based on construct (anchor, screw, or suture), location (subpectoral, suprapectoral, or top of groove), and technique (inlay or onlay). Nonparametric hypothesis testing was used to compare continuous outcomes at each time point. The proportion of patients achieving the minimal clinically important difference (MCID) at the 1- and 2-year follow-ups were compared between groups using chi-square tests. Results: A total of 1903 unique shoulder entries were analyzed. Improvement in VR-12 Mental score favored anchor and suture fixations at 1 year of follow-up (P = .042) and the onlay tenodesis technique at 2 years of follow-up (P = .029). No additional tenodesis comparisons demonstrated statistical significance. The proportion of patients with improvement exceeding the MCID did not differ based on tenodesis methods for any outcome score assessed at the 1- or 2-year follow-up. Conclusion: Biceps tenodesis with concomitant RCR led to improved outcomes regardless of tenodesis fixation construct, location, or technique. A clear optimal tenodesis method with RCR remains to be determined. Surgeon preference and experience with various tenodesis methods as well as patient clinical presentation should continue to guide surgical decision-making.

18.
bioRxiv ; 2023 Feb 22.
Artículo en Inglés | MEDLINE | ID: mdl-36865218

RESUMEN

As a step towards simplifying and reducing the cost of haplotype resolved de novo assembly, we describe new methods for accurately phasing nanopore data with the Shasta genome assembler and a modular tool for extending phasing to the chromosome scale called GFAse. We test using new variants of Oxford Nanopore Technologies' (ONT) PromethION sequencing, including those using proximity ligation and show that newer, higher accuracy ONT reads substantially improve assembly quality.

19.
bioRxiv ; 2023 Apr 05.
Artículo en Inglés | MEDLINE | ID: mdl-36711673

RESUMEN

Long-read sequencing technologies substantially overcome the limitations of short-reads but to date have not been considered as feasible replacement at scale due to a combination of being too expensive, not scalable enough, or too error-prone. Here, we develop an efficient and scalable wet lab and computational protocol for Oxford Nanopore Technologies (ONT) long-read sequencing that seeks to provide a genuine alternative to short-reads for large-scale genomics projects. We applied our protocol to cell lines and brain tissue samples as part of a pilot project for the NIH Center for Alzheimer's and Related Dementias (CARD). Using a single PromethION flow cell, we can detect SNPs with F1-score better than Illumina short-read sequencing. Small indel calling remains to be difficult inside homopolymers and tandem repeats, but is comparable to Illumina calls elsewhere. Further, we can discover structural variants with F1-score comparable to state-of the-art methods involving Pacific Biosciences HiFi sequencing and trio information (but at a lower cost and greater throughput). Using ONT based phasing, we can then combine and phase small and structural variants at megabase scales. Our protocol also produces highly accurate, haplotype-specific methylation calls. Overall, this makes large-scale long-read sequencing projects feasible; the protocol is currently being used to sequence thousands of brain-based genomes as a part of the NIH CARD initiative. We provide the protocol and software as open-source integrated pipelines for generating phased variant calls and assemblies.

20.
BMJ Case Rep ; 15(9)2022 Sep 23.
Artículo en Inglés | MEDLINE | ID: mdl-36150724

RESUMEN

An adolescent female patient presented with atraumatic left knee pain and limited flexion. MRI demonstrated evidence of a soft tissue lesion abutting the posterior cruciate ligament. Differential diagnosis included pigmented villonodular synovitis (PVNS) and fibroma of the tendon sheath (FTS). Following arthroscopic biopsy, histopathological evaluation confirmed FTS. The tumour was then excised via an arthroscopic approach. This case report provides a unique example of FTS abutting the cruciate ligaments in an uncommonly young female patient. It highlights the importance of including benign processes, such as FTS, in the differential with more aggressive-type diagnoses like PVNS. Furthermore, this case exemplifies an appropriate surgical indication for FTS. Finally, it emphasises the importance of communication and collaboration among orthopaedic subspecialists in providing safe and effective arthroscopic treatment of this unique tumour presentation.


Asunto(s)
Fibroma , Sinovitis Pigmentada Vellonodular , Adolescente , Femenino , Fibroma/diagnóstico por imagen , Fibroma/cirugía , Humanos , Articulación de la Rodilla/diagnóstico por imagen , Articulación de la Rodilla/patología , Articulación de la Rodilla/cirugía , Sinovectomía , Sinovitis Pigmentada Vellonodular/diagnóstico , Tendones/patología , Tendones/cirugía
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