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1.
Am J Med Genet A ; : e63659, 2024 May 09.
Artículo en Inglés | MEDLINE | ID: mdl-38722054

RESUMEN

Propionic acidemia is a metabolic condition with multiple serious acute and chronic presentations that require strict monitoring. Literature on liver function abnormalities in propionic acidemia is scarce, and the mechanism of liver impairment in this condition remains unclear. Currently, there is no indication for liver-function tests during follow-up and their clinical or prognostic utility is unknown. This study aimed to determine aminotransferase trends in individuals with propionic acidemia at a single institution. We retrospectively evaluated and classified the aminotransferases of 12 patients with propionic acidemia during hospital admissions and routine office visits. The present findings suggest that aminotransferase elevations are very common in this population and can persist beyond acute illness. During hospitalization events, aminotransferases were not a predictor of severity, duration of stay, and readmission within 1 month. Understanding aminotransferase trends in these patients will help clinicians make decisions in the acute setting and potentially in the follow-up of new therapies.

2.
Am J Med Genet A ; : e63718, 2024 May 17.
Artículo en Inglés | MEDLINE | ID: mdl-38760987

RESUMEN

Dandy-Walker malformation (DWM) is often sporadic, but there are a growing number of genetic disorders that have been associated with this condition. We present a female individual with a de novo variant in ABL1, c.734A>G (p.Y245), who was diagnosed prenatally with DWM. ABL1-related neurodevelopmental disorder was recently identified but brain malformations have not been well characterized to date. We reviewed the published literature and identified one additional individual with DWM and ABL1-related disorder, which suggests a possible association with this malformation.

3.
J Orthop Traumatol ; 25(1): 16, 2024 Apr 13.
Artículo en Inglés | MEDLINE | ID: mdl-38615140

RESUMEN

PURPOSE: The purpose of this systematic review is to examine the outcomes, complications, and potential advantages of using anatomical interlocking intramedullary nails (IMN) in the treatment of radius and ulnar shaft diaphyseal fractures in adults. METHODS: Medline, Embase, Web of Science, and Cumulative Index to Nursing and Allied Health Literature (CINAHL) databases were searched between January 2000 and January 2023. Studies meeting criteria were observational or randomized controlled trials evaluating outcomes in IMN for adult diaphyseal forearm fractures. Standardized data extraction was performed and a quality assessment tool was used to evaluate individual study methodology. Descriptive statistics for interventions, functional outcomes, and complications were reported. Meta-analysis was performed for patient-reported outcome measures and operative time. RESULTS: A total of 29 studies involving 1268 patients were included with 764 (60%) undergoing IMN, 21% open reduction and internal fixation (ORIF), and 9% hybrid fixation. There was no significant difference between groups in DASH and Grace-Eversmann scores. Operative time was significantly shorter in IMN compared with ORIF. The DASH scores were: 13.1 ± 6.04 for IMN, 10.17 ± 3.98 for ORIF, and 15.5 ± 0.63 in hybrids. Mean operative time was 65.3 ± 28.7 in ORIF and 50.8 ± 17.7 in IMN. Complication rates were 16.7% in the IMN group, 14.9% in ORIF, and 6.3% in hybrid constructs. There were 11 cases of extensor pollicis rupture in the IMN group. Average IMN pronation and supination were 78.3° ± 7.9° and 73° ± 5.0°, respectively. Average ORIF pronation and supination was 82.15° ± 1.9° and 79.7° ± 4.5°, respectively. CONCLUSIONS: Similar functional outcomes and complication rates along with shorter operative times can be achieved with IMN compared with ORIF. The use of IMN is promising, however, higher quality evidence is required to assess appropriate indications, subtle differences in range of motion, implant-related complications, and cost-effectiveness. Trail Registration PROSPERO (International Prospective Register of Systematic Reviews) (ID: CRD42022362353).


Asunto(s)
Traumatismos del Antebrazo , Fijación Intramedular de Fracturas , Fracturas Óseas , Fracturas del Cúbito , Adulto , Humanos , Antebrazo , Fijadores Internos , Fracturas del Cúbito/cirugía , Traumatismos del Antebrazo/cirugía , Complicaciones Posoperatorias/epidemiología
4.
Am J Med Genet A ; : e63622, 2024 Apr 04.
Artículo en Inglés | MEDLINE | ID: mdl-38572626

RESUMEN

Nonketotic hyperglycinemia (NKH) is a relatively well-characterized inborn error of metabolism that results in a combination of lethargy, hypotonia, seizures, developmental arrest, and, in severe cases, death early in life. Three genes encoding components of the glycine cleavage enzyme system-GLDC, AMT, and GCSH-are independently associated with NKH. We report on a patient with severe NKH in whom the homozygous pathogenic variant in AMT (NM_000481.3):c.602_603del (p.Lys201Thrfs*75) and the homozygous likely pathogenic variant in GLDC(NM_000170.2):c.2852C>A (p.Ser951Tyr) were both identified. Our patient demonstrates a novel combination of two homozygous disease-causing variants impacting the glycine cleavage pathway at two different components, and elicits management- and genetic counseling-related challenges for the family.

5.
Nat Ecol Evol ; 8(4): 622-636, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38351091

RESUMEN

Understanding how diversity evolves and is maintained is critical to predicting the future trajectories of ecosystems under climate change; however, our understanding of these processes is limited in marine systems. Corals, which engineer reef ecosystems, are critically threatened by climate change, and global efforts are underway to conserve and restore populations as attempts to mitigate ocean warming continue. Recently, sequencing efforts have uncovered widespread undescribed coral diversity, including 'cryptic lineages'-genetically distinct but morphologically similar coral taxa. Such cryptic lineages have been identified in at least 24 coral genera spanning the anthozoan phylogeny and across ocean basins. These cryptic lineages co-occur in many reef systems, but their distributions often differ among habitats. Research suggests that cryptic lineages are ecologically specialized and several examples demonstrate differences in thermal tolerance, highlighting the critical implications of this diversity for predicting coral responses to future warming. Here, we draw attention to recent discoveries, discuss how cryptic diversity affects the study of coral adaptation and acclimation to future environments, explore how it shapes symbiotic partnerships, and highlight challenges and opportunities for conservation and restoration efforts.


Asunto(s)
Antozoos , Animales , Antozoos/genética , Ecosistema , Simbiosis , Filogenia
6.
World Neurosurg ; 183: e781-e786, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38216035

RESUMEN

BACKGROUND: Few studies have compared the Pipeline Shield stents with previous generations of flow-diverting stents (FDSs) for the treatment of unruptured intracranial aneurysms. This study aimed to evaluate the efficacy and safety of Pipeline Shield stents and FDSs without modified surfaces. METHODS: The present evaluation is a retrospective cohort study of patients endovascularly treated with Pipeline Shield stents or FDSs without modified surfaces for unruptured intracranial aneurysms between January 2014 and June 2022. The data analyzed were obtained from the anonymized database of our institution's interventional radiology service. RESULTS: A total of 147 patients with 155 unruptured intracranial aneurysms were included. Of the 155 aneurysms, 96 were treated with Pipeline Shield stents and 59 with FDSs without modified surfaces. The aneurysms treated with Pipeline Shield stents had higher 6-month (O'Kelly-Marotta [OKM] D; 87.5% vs. 71.4%; P = 0.025) and 1-year (OKM D; 82.5% vs. 63.0%; P = 0.047) occlusion rates than the aneurysms treated using FDSs without modified surfaces. No differences between the devices were found at the 1-year follow-up in the incidence of ischemic stroke (P = 0.939) or hemorrhagic complications (P = 0.559). CONCLUSIONS: Pipeline Shield stents demonstrated superior complete occlusion rates (OKM D) at both the 6-month and the 1-year follow-up assessments compared with nonmodified surface FDSs. No significant differences were found in the safety profiles between the 2 types of stents with regard to thromboembolic complications and ischemic events. Further research with larger study populations is necessary to validate these findings.


Asunto(s)
Embolización Terapéutica , Procedimientos Endovasculares , Aneurisma Intracraneal , Humanos , Aneurisma Intracraneal/complicaciones , Estudios Retrospectivos , Resultado del Tratamiento , Stents/efectos adversos
7.
Am J Hum Genet ; 111(2): 364-382, 2024 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-38272033

RESUMEN

The calcium/calmodulin-dependent protein kinase type 2 (CAMK2) family consists of four different isozymes, encoded by four different genes-CAMK2A, CAMK2B, CAMK2G, and CAMK2D-of which the first three have been associated recently with neurodevelopmental disorders. CAMK2D is one of the major CAMK2 proteins expressed in the heart and has been associated with cardiac anomalies. Although this CAMK2 isoform is also known to be one of the major CAMK2 subtypes expressed during early brain development, it has never been linked with neurodevelopmental disorders until now. Here we show that CAMK2D plays an important role in neurodevelopment not only in mice but also in humans. We identified eight individuals harboring heterozygous variants in CAMK2D who display symptoms of intellectual disability, delayed speech, behavioral problems, and dilated cardiomyopathy. The majority of the variants tested lead to a gain of function (GoF), which appears to cause both neurological problems and dilated cardiomyopathy. In contrast, loss-of-function (LoF) variants appear to induce only neurological symptoms. Together, we describe a cohort of individuals with neurodevelopmental disorders and cardiac anomalies, harboring pathogenic variants in CAMK2D, confirming an important role for the CAMK2D isozyme in both heart and brain function.


Asunto(s)
Proteína Quinasa Tipo 2 Dependiente de Calcio Calmodulina , Cardiomiopatía Dilatada , Discapacidad Intelectual , Trastornos del Neurodesarrollo , Animales , Humanos , Ratones , Proteína Quinasa Tipo 2 Dependiente de Calcio Calmodulina/genética , Proteína Quinasa Tipo 2 Dependiente de Calcio Calmodulina/metabolismo , Corazón , Trastornos del Neurodesarrollo/genética
8.
Hand (N Y) ; : 15589447231221245, 2024 Jan 30.
Artículo en Inglés | MEDLINE | ID: mdl-38288722

RESUMEN

Proximal row carpectomy (PRC) with soft tissue interposition arthroplasty (STIA) presents an alternative approach to addressing wrist arthritis patterns involving the capitate and/or lunate fossa, in lieu of wrist arthrodesis. This systematic review aimed to evaluate clinical outcomes and techniques associated with PRC-STIA in patients with advanced wrist arthritis. We conducted a systematic review using databases including PubMed, Embase, MEDLINE, and the Cochrane Central Register of Controlled Trials. Inclusion criteria involved articles reporting outcomes of patients who underwent PRC-STIA with at least 1 relevant outcome. The analysis encompassed 8 studies involving 106 patients (108 wrists) meeting the inclusion criteria. A majority of patients were men (69%, n = 88), with a mean age of 54.4 ± 12.7 years and an average follow-up of 4.8 ± 6.3 years. Dorsal capsule was the most commonly interposed tissue (63%, 5 out of 8 studies). Patients receiving STIA achieved comparable patient-reported outcome measures scores to those undergoing PRC alone. Postoperative pain, measured by the Visual Analog Scale, averaged 3.7 ± 0.6. The Disabilities of the Arm, Shoulder, and Hand score averaged 27.8 ± 8, while the Patient-Rated Wrist Evaluation score averaged 41.5 ± 25.9. Five complications were reported in three studies. The addition of STIA into PRC for patients with capitate and/or lunate fossa cartilage degeneration yielded outcomes akin to traditional PRC, improving wrist function, pain, and grip strength in a safe and straightforward manner. Future research should prioritize high-quality comparative studies, extended follow-up periods, and standardized core outcome measures for a more comprehensive understanding of its role in wrist arthritis treatment.

9.
Am J Med Genet A ; 194(2): 195-202, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-37774117

RESUMEN

Fetuses with RASopathies can have a wide variety of anomalies including increased nuchal translucency, hydrops fetalis, and structural anomalies (typically cardiac and renal). There are few reports that describe prenatal-onset craniosynostosis in association with a RASopathy diagnosis. We present clinical and molecular characteristics of five individuals with RASopathy and craniosynostosis. Two were diagnosed with craniosynostosis prenatally, 1 was diagnosed as a neonate, and 2 had evidence of craniosynostosis noted as neonates without formal diagnosis until later. Two of these individuals have Noonan syndrome (PTPN11 and KRAS variants) and three individuals have Cardiofaciocutaneous syndrome (KRAS variants). Three individuals had single suture synostosis and two had multiple suture involvement. The most common sutures involved were sagittal (n = 3), followed by coronal (n = 3), and lambdoid (n = 2) sutures. This case series confirms craniosynostosis as one of the prenatal findings in individuals with RASopathies and emphasizes the importance of considering a RASopathy diagnosis in fetuses with multiple anomalies in combination with craniosynostosis.


Asunto(s)
Craneosinostosis , Cardiopatías Congénitas , Síndrome de Noonan , Recién Nacido , Femenino , Humanos , Embarazo , Proteínas Proto-Oncogénicas p21(ras)/genética , Craneosinostosis/diagnóstico , Craneosinostosis/genética , Síndrome de Noonan/diagnóstico , Síndrome de Noonan/genética , Ultrasonografía Prenatal
10.
Mol Genet Genomic Med ; 12(1): e2329, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38014480

RESUMEN

PURPOSE: To describe clinical and ocular abnormalities in a case of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities (DEGCAGS syndrome). METHODS: A clinical report. CASE DESCRIPTION: An infant born to a consanguineous Middle Eastern family who was delivered by cesarean section because of in utero growth restriction, premature labor, and breech presentation. Post-partum medical problems included hypotension, generalized hypotonia, bradycardia, apnea requiring resuscitation and positive pressure ventilation, facial dysmorphia, skeletal malformations, and disorders of the gastrointestinal, immune, urinary, respiratory, cardiac, and visual systems. The family reported that a previous child had severe hypotonia at birth and was given the diagnosis of hypoxic ischemic encephalopathy; that child remains on a ventilator in a chronic care facility. Our patient was found to be homozygous for a novel pathogenic missense variant in theZNF699 zinc finger gene on chromosome 19p13 causing a syndrome known as Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities (DEGCAGS syndrome). We review this variable syndrome, including abnormalities of the visual system not described previously. CONCLUSIONS: We describe the 15th child to be presumably identified with the DEGCAGS syndrome and the first individual with homozygous missense variants in the ZNF699 gene who had complete clinical examination and detailed retinal imaging.


Asunto(s)
Hipotonía Muscular , Anomalías Musculoesqueléticas , Femenino , Humanos , Recién Nacido , Embarazo , Cesárea , Hipotonía Muscular/genética , Mutación Missense , Síndrome
11.
Am J Med Genet A ; 194(4): e63477, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-37969032

RESUMEN

Germline pathogenic variants in the RAS/mitogen-activated protein kinase (MAPK) signaling pathway are the molecular cause of RASopathies, a group of clinically overlapping genetic syndromes. RASopathies constitute a wide clinical spectrum characterized by distinct facial features, short stature, predisposition to cancer, and variable anomalies in nearly all the major body systems. With increasing global recognition of these conditions, the 8th International RASopathies Symposium spotlighted global perspectives on clinical care and research, including strategies for building international collaborations and developing diverse patient cohorts in anticipation of interventional trials. This biannual meeting, organized by RASopathies Network, was held in a hybrid virtual/in-person format. The agenda featured emerging discoveries and case findings as well as progress in preclinical and therapeutic pipelines. Stakeholders including basic scientists, clinician-scientists, practitioners, industry representatives, patients, and family advocates gathered to discuss cutting edge science, recognize current gaps in knowledge, and hear from people with RASopathies about the experience of daily living. Presentations by RASopathy self-advocates and early-stage investigators were featured throughout the program to encourage a sustainable, diverse, long-term research and advocacy partnership focused on improving health and bringing treatments to people with RASopathies.


Asunto(s)
Síndrome de Costello , Displasia Ectodérmica , Cardiopatías Congénitas , Neoplasias , Síndrome de Noonan , Humanos , Proteínas ras/genética , Sistema de Señalización de MAP Quinasas/genética , Síndrome de Costello/genética , Neoplasias/genética , Displasia Ectodérmica/genética , Síndrome de Noonan/genética , Cardiopatías Congénitas/genética
12.
Mol Genet Metab ; 141(1): 107736, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38000346

RESUMEN

Glucosylsphingosine (lyso-GL1) is a biomarker used to monitor disease and treatment response in Gaucher disease. Data from adults show that higher values of lyso-GL1 are associated with increased disease progression, however similar data in the pediatric population is lacking. In a cohort of pediatric patients, we present a relationship between lyso-GL1 value and Gaucher type, age, and treatment response. Data from this study may serve as a reference for providers monitoring children with Gaucher disease.


Asunto(s)
Enfermedad de Gaucher , Adulto , Niño , Humanos , Enfermedad de Gaucher/tratamiento farmacológico , Psicosina , Biomarcadores , Terapia de Reemplazo Enzimático
13.
Pediatr Cardiol ; 45(1): 55-62, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37814158

RESUMEN

Congenital heart disease (CHD) is a common structural anomaly, affecting ~ 1% of live births worldwide. Advancements in medical and surgical management have significantly improved survival for children with CHD, however, extracardiac malformations (ECM) continue to be a significant cause of morbidity and mortality. Despite clinical significance, there is limited literature available on ECM in neonates with CHD, especially from Latin America. A cross-sectional study of neonates with severe CHD evaluated by the medical-surgical board team at Fundación Cardiovascular de Colombia from 2014 to 2019 was completed to characterize morbidity, mortality, surgical outcomes, and ECM. Demographics and surgical outcomes were compared between neonates with and without ECM. Medical record data were abstracted and descriptive statistical analysis was performed. Of 378 neonates with CHD, 262 had isolated CHD (69.3%) and 116 had ECM (30.7%). The most common ECM was gastrointestinal (n = 18, 15.5%) followed by central nervous system (n = 14, 12%). Most neonates required a biventricular surgical approach (n = 220, 58.2%). Genetic testing was performed more often for neonates with ECM (n = 65, 56%) than neonates with isolated CHD (n = 14, 5.3%). Neonates with ECM had lower birth weight, longer hospital stays, and higher postsurgical complications rates. There was no difference in survival between groups. Overall, Screening for ECM in neonates with CHD is important and identification of ECM can guide clinical decision-making. These findings have important implications for pediatric healthcare providers, especially in low- and middle-income countries, where the burden of CHD is high and resources for managing CHD and extracardiac malformations may be limited.


Asunto(s)
Cardiopatías Congénitas , Recién Nacido , Humanos , Niño , Colombia/epidemiología , Estudios Transversales , Estudios Retrospectivos , Cardiopatías Congénitas/epidemiología , Cardiopatías Congénitas/cirugía , Pruebas Genéticas
14.
Shoulder Elbow ; 15(6): 580-592, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-38028932

RESUMEN

Background: Many joint-preserving surgical interventions for cartilage defects of the knee have been adapted for use in the shoulder; however, there still exists no clear consensus for treatment. Thus, the purpose of this systematic review was to evaluate the outcomes of different interventions in patients with focal chondral lesions of the glenohumeral joint. Methods: A literature search was conducted using PubMed, Embase, and Medline. Patients who underwent a joint-preserving surgical procedure to treat a focal chondral defect of the glenoid, humeral head or both were included. Patients treated for diffuse cartilage defects or with shoulder arthroplasty were excluded. Results: Ten studies were included, with follow-up data available for 194 shoulders. Eight joint-preserving procedures were evaluated, with microfracture being the most common. One study evaluating microfracture reported significant improvements in patient-reported outcomes at short-term and long-term follow-up compared to preoperative scores. Across all studies, 32 patients underwent subsequent shoulder surgery, with 22 being arthroplasties. Conclusions: We found improvements in patient-reported and functional outcomes across all studies. Although joint-preserving procedures have shown reasonable outcomes for focal chondral defects of the glenohumeral joint, long-term outcomes remain unknown, and the progression of osteoarthritis remains a concern. Higher quality evidence is required to make definitive recommendations. Level of Evidence: IV.

15.
Shoulder Elbow ; 15(5): 465-483, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37811393

RESUMEN

Background: Currently, is there no consensus on a widely accepted measurement technique for calculating the Hill-Sachs lesion (HSL). The purpose of this review is to provide an overview of the techniques and imaging modalities to assess the HSL pre-operatively. Methods: Four online databases (PubMed, Embase, MEDLINE, and COCHRANE) were searched for literature on the various modalities and measurement techniques used for quantifying HSLs, from data inception to 20 November 2021. The Methodological Index for Non-Randomized Studies tool was used to assess study quality. Results: Forty-five studies encompassing 3413 patients were included in this review. MRA and MRI showed the highest sensitivity, specificity, and accuracy values. Intrarater and interrater agreement was shown to be the highest amongst MRA. The most common reference tests for measuring the HSL were arthroscopy, radiography, arthro-CT, and surgical techniques. Conclusion: MRA and MRI are reliable imaging modalities with good test diagnostic properties for assessment of HSLs. There is a wide variety of measurement techniques and imaging modalities for HSL assessment, however a lack of comparative studies exists. Thus, it is not possible to comment on the superiority of one technique over another. Future studies comparing imaging modalities and measurement techniques are needed that incorporate a cost-benefit analysis.

16.
Shoulder Elbow ; 15(4): 360-372, 2023 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-37538519

RESUMEN

Purpose: To consolidate the existing literature evaluating anterior capsular release and circumferential capsular release in the treatment of adhesive capsulitis (AC) of the shoulder. Methods: The electronic databases PUBMED, EMBASE, MEDLINE and CENTRAL (Cochrane Central Register of Controlled Trials) were searched from data inception to October 8, 2020. Data are presented descriptively where appropriate. A meta-analysis was conducted for patient-reported outcomes. Results: Overall, there were forty-six articles included. The majority of patients underwent circumferential release compared to anterior release (80.1% vs. 19.9%). Concomitant Manipulation Under Anesthesia (MUA) was employed in 25 studies, with a higher occurrence in the anterior compared to the circumferential release group (70% vs 60%). Both groups experienced significant improvements postoperatively in range of motion (ROM) and patient-reported outcomes. Complication rates were low for both anterior release (0.67%) and 360° release (0.44%). Conclusion: Both anterior and circumferential release are effective techniques for treating AC with low complication rates. Future studies should improve documentation of patient demographics, surgical techniques and outcomes to determine an individualized treatment protocol for patients. Level of evidence: Level IV, Systematic Review of Level I-IV studies.

17.
Mol Ecol ; 32(18): 4971-4985, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37515430

RESUMEN

The repeated evolution of phenotypes provides clear evidence for the role of natural selection in driving evolutionary change. However, the evolutionary origin of repeated phenotypes can be difficult to disentangle as it can arise from a combination of factors such as gene flow, shared ancestral polymorphisms or mutation. Here, we investigate the presence of these evolutionary processes in the Hawaiian spiny-leg Tetragnatha adaptive radiation, which includes four microhabitat-specialists or ecomorphs, with different body pigmentation and size (Green, Large Brown, Maroon, and Small Brown). We investigated the evolutionary history of this radiation using 76 newly generated low-coverage, whole-genome resequenced samples, along with phylogenetic and population genomic tools. Considering the Green ecomorph as the ancestral state, our results suggest that the Green ecomorph likely re-evolved once, the Large Brown and Maroon ecomorphs evolved twice and the Small Brown evolved three times. We found that the evolution of the Maroon and Small Brown ecomorphs likely involved ancestral hybridization events, while the Green and Large Brown ecomorphs likely evolved through novel mutations, despite a high rate of incomplete lineage sorting in the dataset. Our findings demonstrate that the repeated evolution of ecomorphs in the Hawaiian spiny-leg Tetragnatha is influenced by multiple evolutionary processes.


Asunto(s)
Flujo Génico , Polimorfismo Genético , Filogenia , Hawaii , Fenotipo
18.
Genome Biol Evol ; 15(6)2023 06 01.
Artículo en Inglés | MEDLINE | ID: mdl-37280750

RESUMEN

Echinometra lucunter, the rock-boring sea urchin, is a widely distributed echinoid and a model for ecological studies of reproduction, responses to climate change, and speciation. We present a near chromosome-level genome assembly of E. lucunter, including 21 scaffolds larger than 10 Mb predicted to represent each of the chromosomes of the species. The 760.4 Mb assembly includes a scaffold N50 of 30.0 Mb and BUSCO (benchmarking universal single-copy orthologue) single copy and a duplicated score of 95.8% and 1.4%, respectively. Ab-initio gene model prediction and annotation with transcriptomic data constructed 33,989 gene models composing 50.4% of the assembly, including 37,036 transcripts. Repetitive elements make up approximately 39.6% of the assembly, and unresolved gap sequences are estimated to be 0.65%. Whole genome alignment with Echinometra sp. EZ revealed high synteny and conservation between the two species, further bolstering Echinometra as an emerging genus for comparative genomics studies. This genome assembly represents a high-quality genomic resource for future evolutionary and developmental studies of this species and more broadly of echinoderms.


Asunto(s)
Genómica , Erizos de Mar , Animales , Erizos de Mar/genética , Secuencias Repetitivas de Ácidos Nucleicos , Cromosomas/genética
19.
World Neurosurg ; 2023 Jun 22.
Artículo en Inglés | MEDLINE | ID: mdl-37355167

RESUMEN

BACKGROUND: Thromboembolic events are critical complications in neuroendovascular procedures, and dual antiplatelet therapy (DAPT) can reduce them. The effects of using aspirin and clopidogrel in DAPT are well characterized, but use of aspirin and ticagrelor has been less studied. METHODS: This retrospective cohort study, conducted between April 1, 2015, and December 30, 2020, included patients with endovascular treatment with flow-diverting and non-flow-diverting stents for unruptured cerebral aneurysms who received DAPT with aspirin and clopidogrel or with aspirin and ticagrelor. RESULTS: Of 148 patients with unruptured intracranial aneurysms with flow-diverting and non-flow-diverting stents started on DAPT with aspirin (100 mg/day) and clopidogrel (75 mg/day), 24 had a poor response to clopidogrel according to the VerifyNow test and had DAPT changed to aspirin (100 mg/day) and ticagrelor (90 mg every 12 hours). One thrombotic complication (0.81%) and 1 bleeding complication (0.81%) occurred in patients receiving DAPT with clopidogrel and aspirin during the procedure. These complications did not occur (0.00%) in patients receiving DAPT with ticagrelor and aspirin. At the 6-month follow-up, 4 patients (3.15%) in the clopidogrel group presented with thrombotic complications, whereas no patients (0.00%) in the ticagrelor group experienced this complication. At 6-month follow-up, 4 patients (3.23%) in the clopidogrel group presented with hemorrhagic complications, whereas only 1 patient (4.17%) in the ticagrelor group experienced this complication. CONCLUSIONS: Our study showed that DAPT with ticagrelor (90 mg every 12 hours) and aspirin (100 mg/day) is a safe and effective alternative to DAPT with clopidogrel (75 mg/day) and aspirin (100 mg/day) for patients with an inadequate response to clopidogrel.

20.
Shoulder Elbow ; 15(3): 250-273, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-37325382

RESUMEN

Background: Emerging evidence suggests preoperative opioid use may increase the risk of negative outcomes following orthopedic procedures. This systematic review evaluated the impact of preoperative opioid use in patients undergoing shoulder surgery with respect to preoperative clinical outcomes, postoperative complications, and postoperative dependence on opioids. Methods: EMBASE, MEDLINE, CENTRAL, and CINAHL were searched from inception to April, 2021 for studies reporting preoperative opioid use and its effect on postoperative outcomes or opioid use. The search, data extraction and methodologic assessment were performed in duplicate for all included studies. Results: Twenty-one studies with a total of 257,301 patients were included in the final synthesis. Of which, 17 were level III evidence. Of those, 51.5% of the patients reported pre-operative opioid use. Fourteen studies (66.7%) reported a higher likelihood of opioid use at follow-up among those used opioids preoperatively compared to preoperative opioid-naïve patients. Eight studies (38.1%) showed lower functional measurements and range of motion in opioid group compared to the non-opioid group post-operatively. Conclusion: Preoperative opioid use in patients undergoing shoulder surgeries is associated with lower functional scores and post-operative range of motion. Most concerning is preoperative opioid use may predict increased post-operative opioid requirements and potential for misuse in patients. Level of evidence: Level IV, Systematic review.

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