Citations

» Anterior glenohumeral instability (AGI) is a challenging condition that requires close attention to osseous and soft-tissue abnormalities. The morphometric variance of the periarticular scapular anatomy may be involved in the pathogenesis of recurrent traumatic anterior instability. » The Trillat procedure repositions the coracoid medially and downward by a partial wedge osteotomy, mimicking the sling effect of the Latarjet procedure by moving the conjoint tendon closer to the joint line in throwing position. The Trillat procedure decreases the coracohumeral distance without affecting the integrity of the subscapularis muscle and tendon. » Joint preservation methods, such as the Trillat procedure, may be explored in older patients to treat AGI with simultaneous irreparable rotator cuff tears (RCTs) with a static centered head and a functional subscapularis. » Shoulder hyperlaxity and instability can be challenging to treat with isolated soft-tissue procedures. In cases without glenoid bone loss, free bone block techniques are ineffective because of the subsequent potential graft resorption, apprehension, or recurrence. The Trillat surgery, in conjunction with an anteroinferior capsuloplasty, seems to be helpful in preventing recurrent instability and in reducing shoulder apprehension. » Recently, several variations of the original technique have been described. In the future, anatomical, biomechanical, and clinical studies need to be conducted to further evaluate the morphometric characterization of the procedure, enhance the technical features, improve indications, and avoid coracoid impingement and other potential complications with the Trillat procedure.

Michelangelo’s unparalleled frescoes in the Sistine Chapel have been traditionally construed to represent the traditional, Roman Catholic interpretation of the Seven Days of Creation in the Book of Genesis and the Last Judgement. Indeed, in September 2018, Pope Francis I offered a benediction for the Vatican’s art treasures and for “those who contributed to the Church’s history through art.” A number of studies have suggested that Michelangelo concealed anatomic information about the human brain in his renderings of God and biblical prophets and saints. Was the anatomic content of these images purposeful or coincidental? Was the anatomy intentionally concealed? Is there a common pattern with symbolic connotations in the anatomic representations? Was Michelangelo sending an encoded message? In this study, we analyze the imagery in the Sistine frescoes in light of the literature surrounding Michelangelo’s artistry with a particular interest in the relationship between the certain purported anatomic depictions and details demonstrable using scientific and anatomic techniques available during the High Renaissance.

Sudden cardiac death (SCD) is responsible for approximately 6% of global mortality and 25% of cardiovascular (CV) deaths. SCD has been traditionally linked to coronary artery disease, valvular heart disease, cardiomyopathies, and genetic arrhythmia disorders. However, advancements in care for these diseases have not translated to a proportional reduction in SCD. This suggests an important role of underrecognized contributing pathologies. Neglected tropical diseases (NTDs) are a group of illnesses prevalent in tropical and sub-tropical regions which have been understudied partially due to their high prevalence in marginalized populations. The relationship between SCD and Chagas disease has been well-established, though emerging literature suggests that other NTDs with CV involvement may lead to fatal arrhythmias. Additionally, specific therapies for a subset of NTDs put patients at increased risk of malignant arrhythmias and other cardiac complications. This review aims to summarize the association between a group of selected NTDs and SCD.

AbstractObjectivesWe aimed to investigate the outcomes of pulmonary vein isolation in athletes.MethodsWe retrospectively identified endurance athletes who underwent catheter ablation at our institution (2004–2018). Endurance athletes were defined as participating in competitive athletics for at least 1500 lifetime hours in sports at the IB or IIA Bethesda classification or higher. Primary endpoints were freedom from atrial arrhythmias at 12, 24, and 36 months after the procedure. Secondary endpoints were defined as qualitative improvement in symptoms allowing athletes to return to their previous level of activity. Athletes were compared with a control group of nonathletes in a 3‐to‐1 matched analysis by age and sex.ResultsA total of 39 endurance athletes who underwent catheter ablation were identified during the study period. At 12 months, there was no difference in treatment outcomes for athletes versus nonathletes (relative risk [RR], 1.06; 95% CI, 0.92–1.22; p = .40). Freedom from atrial arrhythmias was 35% less likely in athletes than nonathletes at 24 months (RR, 0.65; 95% CI, 0.50–0.83; p < .001) and 42% less likely at 36 months (RR, 0.58; 95% CI, 0.41–0.79; p < .001). Overall, 77% of the athletes were able to return to their previous level of activity following catheter ablation.ConclusionEndurance athletes with atrial fibrillation appear to have higher rates of atrial arrhythmia recurrence than nonathletes after catheter ablation, with higher rates of atypical flutter. The majority of athletes were able to return to their previous level of activity after ablation.

Autologous stem cell transplantation treatment has been viewed as a therapeutic modality to enable the infusion of higher doses of chemotherapy to eradicate tumor cells. Nevertheless, recent reports have shown that, in addition to stem cells, infusion of autograft immune effector cells produces an autologous graft-versus-tumor effect, similar to the graft-versus-tumor effect observed in allogeneic-stem cell transplantation, but without the clinical complications of graft-versus-host disease. In this review, I assess the impact on clinical outcomes following infusions of autograft-antigen presenting cells, autograft innate and adaptive immune effector cells, and autograft immunosuppressive cells during autologous stem cell transplantation. This article is intended to provide a platform to change the current paradigmatic view of autologous stem cell transplantation, from a high-dose chemotherapy-based treatment to an adoptive immunotherapeutic intervention.

Background: There is a paucity of data regarding the phenotype of dilated cardiomyopathy (DCM) gene variants in the general population. We aimed to determine the frequency and penetrance of DCM-associated putative pathogenic gene variants in a general adult population, with a focus on the expression of clinical and subclinical phenotype, including structural, functional, and arrhythmic disease features. Methods: UK Biobank participants who had undergone whole exome sequencing, ECG, and cardiovascular magnetic resonance imaging were selected for study. Three variant-calling strategies (1 primary and 2 secondary) were used to identify participants with putative pathogenic variants in 44 DCM genes. The observed phenotype was graded DCM (clinical or cardiovascular magnetic resonance diagnosis); early DCM features, including arrhythmia or conduction disease, isolated ventricular dilation, and hypokinetic nondilated cardiomyopathy; or phenotype-negative. Results: Among 18 665 individuals included in the study, 1463 (7.8%) possessed ≥1 putative pathogenic variant in 44 DCM genes by the main variant calling strategy. A clinical diagnosis of DCM was present in 0.34% and early DCM features in 5.7% of individuals with putative pathogenic variants. ECG and cardiovascular magnetic resonance analysis revealed evidence of subclinical DCM in an additional 1.6% and early DCM features in an additional 15.9% of individuals with putative pathogenic variants. Arrhythmias or conduction disease (15.2%) were the most common early DCM features, followed by hypokinetic nondilated cardiomyopathy (4%). The combined clinical/subclinical penetrance was ≤30% with all 3 variant filtering strategies. Clinical DCM was slightly more prevalent among participants with putative pathogenic variants in definitive/strong evidence genes as compared with those with variants in moderate/limited evidence genes. Conclusions: In the UK Biobank, ≈1 of 6 of adults with putative pathogenic variants in DCM genes exhibited early DCM features potentially associated with DCM genotype, most commonly manifesting with arrhythmias in the absence of substantial ventricular dilation or dysfunction.

Purpose To summarise the clinical, molecular and biochemical phenotype of mannosyl-oligosaccharide glucosidase-related congenital disorders of glycosylation (MOGS-CDG), which presents with variable clinical manifestations, and to analyse which clinical biochemical assay consistently supports diagnosis in individuals with bi-allelic variants in MOGS. Methods Phenotypic characterisation was performed through an international and multicentre collaboration. Genetic testing was done by exome sequencing and targeted arrays. Biochemical assays on serum and urine were performed to delineate the biochemical signature of MOGS-CDG. Results Clinical phenotyping revealed heterogeneity in MOGS-CDG, including neurological, immunological and skeletal phenotypes. Bi-allelic variants in MOGS were identified in 12 individuals from 11 families. The severity in each organ system was variable, without definite genotype correlation. Urine oligosaccharide analysis was consistently abnormal for all affected probands, whereas other biochemical analyses such as serum transferrin analysis was not consistently abnormal. Conclusion The clinical phenotype of MOGS-CDG includes multisystemic involvement with variable severity. Molecular analysis, combined with biochemical testing, is important for diagnosis. In MOGS-CDG, urine oligosaccharide analysis via matrix-assisted laser desorption/ionisation time-of-flight mass spectrometry can be used as a reliable biochemical test for screening and confirmation of disease.

Psychotic phenomena are among the most severe and disruptive symptoms of dementias and appear in 30% to 50% of patients. They are associated with a worse evolution and great suffering to patients and caregivers. Their current treatments obtain limited results and are not free of adverse effects, which are sometimes serious. It is therefore crucial to develop new treatments that can improve this situation. We review available data that could enlighten the future design of clinical trials with psychosis in dementia as main target. Along with an explanation of its prevalence in the common diseases that cause dementia, we present proposals aimed at improving the definition of symptoms and what should be included and excluded in clinical trials. A review of the available information regarding the neurobiological basis of symptoms, in terms of pathology, neuroimaging, and genomics, is provided as a guide towards new therapeutic targets. The correct evaluation of symptoms is transcendental in any therapeutic trial and these aspects are extensively addressed. Finally, a critical overview of existing pharmacological and non-pharmacological treatments is made, revealing the unmet needs, in terms of efficacy and safety. Our work emphasizes the need for better definition and measurement of psychotic symptoms in dementias in order to highlight their differences with symptoms that appear in non-dementing diseases such as schizophrenia. Advances in neurobiology should illuminate the development of new, more effective and safer molecules for which this review can serve as a roadmap in the design of future clinical trials.

Abstract This educational topical review and Task Force report aims to address learning objectives of the International League Against Epilepsy (ILAE) curriculum. We sought to extract detailed features involving semiology from video recordings and interpret semiological signs and symptoms that reflect the likely localization for focal seizures in patients with epilepsy. This glossary was developed by a working group of the ILAE Commission on Diagnostic Methods incorporating the EEG Task Force. This paper identifies commonly used terms to describe seizure semiology, provides definitions, signs and symptoms, and summarizes their clinical value in localizing and lateralizing focal seizures based on consensus in the published literature. Video‐EEG examples are included to illustrate important features of semiology in patients with epilepsy.