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1.
Dev Dyn ; 252(1): 156-171, 2023 01.
Artículo en Inglés | MEDLINE | ID: mdl-36454543

RESUMEN

BACKGROUND: Down syndrome (DS) patients have a 100-fold increase in the risk of Hirschsprung syndrome of the colon and rectum (HSCR), a lack of enteric neurons in the colon. The leading DS candidate gene is trisomy of the Down syndrome cell adhesion molecule (DSCAM). RESULTS: We find that Dscam1 protein is expressed in the Drosophila enteric/stomatogastric nervous system (SNS). Axonal Dscam1 phenotypes can be rescued equally by diverse isoforms. Overexpression of Dscam1 resulted in frontal and hindgut nerve overgrowth. Expression of dominant negative Dscam1-ΔC led to a truncated frontal nerve and increased branching of the hindgut nerve. Larval locomotion is influenced by feeding state, and we found that the average speed of larvae with Dscam1 SNS expression was reduced, whereas overexpression of Dscam1-ΔC significantly increased the speed. Dscam1 overexpression reduced the efficiency of food clearance from the larval gut. CONCLUSION: Our work demonstrates that overexpression of Dscam1 can perturb gut function in a model system.


Asunto(s)
Síndrome de Down , Proteínas de Drosophila , Animales , Drosophila/metabolismo , Drosophila melanogaster/genética , Proteínas de Drosophila/genética , Proteínas de Drosophila/metabolismo , Síndrome de Down/genética , Moléculas de Adhesión Celular/genética , Moléculas de Adhesión Celular/metabolismo , Neuronas/metabolismo
2.
J Surg Res ; 284: 37-41, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-36535117

RESUMEN

INTRODUCTION: Black/African Americans and Latinos face significant health disparities and systemic inequities. Heart and lung disease are leading factors affecting morbidity and mortality in these groups. Given this disparity, we sought to determine how often this topic is presented at the most relevant United States annual cardiothoracic surgery meetings. METHODS: Specialty-specific annual meeting abstract books were queried between 2015 and 2021. We included the Society of Thoracic Surgeons, American Association for Thoracic Surgery, Western Thoracic Surgical Association, and the Southern Thoracic Surgical Association. Scientific abstract titles and content were searched for the following keywords and phrases: "racial health disparities," "race," "racism," "racial bias," "institutional racism," and "health disparities". If an abstract included a keyword or phrase, it was counted as a racial health disparity abstract. We calculated the proportion of racial health disparity abstracts and abstracts published as manuscripts in the meeting-associated journals. RESULTS: A total of 3664 abstracts were presented between 2015 and 2021. Of those, 0.90% (33/3664) abstracts presented contained at least one of the keywords or phrases. Of these abstracts, the percentage that went on to publication represented 0.38% (14/3664) of the total number of abstracts presented. CONCLUSIONS: Abstracts on racial health disparities in cardiothoracic surgery represent a very small fraction of total meeting peer-reviewed content. There is a significant gap in research to identify and develop best practice strategies to address these disparities and mitigate structural racism within the care of underserved patients with cardiothoracic diseases.


Asunto(s)
Disparidades en el Estado de Salud , Cirugía Torácica , Procedimientos Quirúrgicos Torácicos , Humanos , Hispánicos o Latinos , Revisión de la Investigación por Pares , Sociedades Médicas , Estados Unidos , Negro o Afroamericano
3.
Pract Neurol ; 23(6): 509-511, 2023 Nov 23.
Artículo en Inglés | MEDLINE | ID: mdl-37468299

RESUMEN

A 68-year-old Brazilian woman had 3 months of progressive fatigue, difficulty walking and 18 kg weight loss. On examination, there was gait apraxia and executive dysfunction. MR scan of brain showed communicating hydrocephalus and a cerebrospinal fluid showed 105 white cells/µL (≤5), predominantly lymphocytes, protein of 1.35 g/L (0.15-0.45) and the glucose content of 0.06 mmol/L (3.3-4.4). We suspected an infective cause and used of metagenomic next-generation sequencing to diagnose neurocysticercosis. This case highlights the challenge of diagnosing chronic meningitis and the relevance of genetic approaches in diagnosing neurological infections.


Asunto(s)
Hidrocefalia , Meningitis , Neurocisticercosis , Femenino , Humanos , Anciano , Neurocisticercosis/diagnóstico , Neurocisticercosis/genética , Encéfalo/diagnóstico por imagen , Secuenciación de Nucleótidos de Alto Rendimiento
4.
Neuroradiology ; 63(8): 1215-1225, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-33459822

RESUMEN

PURPOSE: Meningiomas are the most common extra-axial intracranial neoplasms with typical radiological findings. In approximately 2% of cases, histopathological reports reveal different neoplasms or non-neoplastic lesions that can closely mimic meningiomas. We describe radiological features of meningioma mimics highlighting imaging red flags to consider a differential diagnosis. METHODS: A total of 348 lesions with radiological diagnosis of meningiomas which underwent to surgical treatment or biopsy between December of 2000 and September of 2014 were analyzed. We determined imaging features that are not a typical finding of meningiomas, suggesting other lesions. The following imaging characteristics were evaluated on CT and MRI: (a) bone erosion; (b) hyperintensity on T2WI; (c) hypointensity on T2WI; (d) bone destruction; (e) dural tail; (f) leptomeningeal involvement; (g) pattern of contrast enhancement; (h) dural displacement sign. RESULTS: We have a relatively high prevalence of meningioma mimics (7.2%). Dural-based lesions with homogeneous contrast enhancement (52%) are easily misdiagnosed as meningiomas. Most lesions mimic convexity (37.5%) or parafalcine (21.9%) meningiomas. We have determined five imaging red flags that can alert radiologists to consider meningioma mimics: (1) bone erosion (22.2%); (2) dural displacement sign (36%); (3) marked T2 hypointensity (32%); (4) marked T2 hyperintensity (12%); (5) absence of dural tail (48%). The most common mimic lesion in our series was hemangiopericytomas, followed by lymphomas and schwannomas. CONCLUSION: The prevalence of meningioma mimics is not negligible. It is important to have awareness on main radiological findings suggestive of differential diagnosis due to a wide range of differentials which lead to different prognosis and treatment strategies.


Asunto(s)
Hemangiopericitoma , Neoplasias Meníngeas , Meningioma , Neurilemoma , Humanos , Imagen por Resonancia Magnética , Neoplasias Meníngeas/diagnóstico por imagen , Meningioma/diagnóstico por imagen
5.
Pancreatology ; 20(4): 637-643, 2020 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-32386970

RESUMEN

BACKGROUND: Epidemiology of acute pancreatitis (AP) is variable in different geographical regions. OBJECTIVES: To compare etiology and severity of AP to published data from South America and the rest of world, study impact of demographical factors and treatment on its outcome in Chilean hospitals. METHODS: Multicenter observational study. Data of consecutive patients with AP were collected at the moment of discharge from 11 centers and retrospectively analyzed. RESULTS: Data of 962 patients were included in the analysis, 447 men and 515 women. Mean age was 48,2 years. Biliary etiology was significantly more frequent in women (70%) than in men (52%). Conversely, alcohol was responsible for about 17% of AP in men but exceptional in women. Mild AP was seen in 73.4%, moderately severe in 14.1% and severe in 13%. The overall mortality was 2.5% (24 of 962): 0.3%, 3.1% and 15.1% in mild, moderately severe and severe cases, respectively. No difference was found in the mortality and severity of biliary versus alcoholic AP, while hypertriglyceridemia induced AP was more severe, without increased mortality. Severity and mortality increased with age. ERCP was performed in 16% of biliary pancreatitis. Adherence to main guidelines was heterogeneous: more than half of mild AP patients were admitted to critical care units and antibiotics were used in about 25% them. CONCLUSION: This is the first multicenter study in Chile on AP. When compared to literature, we found similar severity distribution and an acceptably low mortality. Biliary etiology was dominant, but alcohol was also important in men.


Asunto(s)
Pancreatitis/epidemiología , Pancreatitis/etiología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Chile/epidemiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pancreatitis/terapia , Estudios Retrospectivos , Adulto Joven
6.
Radiographics ; 39(6): 1672-1695, 2019 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-31589567

RESUMEN

Toxic and metabolic brain disorders are relatively uncommon diseases that affect the central nervous system, but they are important to recognize as they can lead to catastrophic outcomes if not rapidly and properly managed. Imaging plays a key role in determining the most probable diagnosis, pointing to the next steps of investigation, and providing prognostic information. The majority of cases demonstrate bilateral and symmetric involvement of structures at imaging, affecting the deep gray nuclei, cortical gray matter, and/or periventricular white matter, and some cases show specific imaging manifestations. When an appropriate clinical situation suggests exogenous or endogenous toxic effects, the associated imaging pattern usually indicates a restricted group of diagnostic possibilities. Nonetheless, toxic and metabolic brain disorders in the literature are usually approached in the literature by starting with common causal agents and then reaching imaging abnormalities, frequently mixing many different possible manifestations. Conversely, this article proposes a systematic approach to address this group of diseases based on the most important imaging patterns encountered in clinical practice. Each pattern is suggestive of a most likely differential diagnosis, which more closely resembles real-world scenarios faced by radiologists. Basic pathophysiologic concepts regarding cerebral edemas and their relation to imaging are introduced-an important topic for overall understanding. The most important imaging patterns are presented, and the main differential diagnosis for each pattern is discussed. Online supplemental material is available for this article. ©RSNA, 2019.


Asunto(s)
Encefalopatías Metabólicas/diagnóstico por imagen , Imagen por Resonancia Magnética , Neuroimagen , Síndromes de Neurotoxicidad/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Edema Encefálico/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética/métodos , Neuroimagen/métodos , Tomografía Computarizada por Rayos X/métodos
9.
Int J Mol Sci ; 18(12)2017 Nov 23.
Artículo en Inglés | MEDLINE | ID: mdl-29168746

RESUMEN

Few quantitative trait loci have been mapped for resistance to Pseudomonas syringae pv. phaseolicola in common bean. Two F2 populations were developed from the host differential UI3 cultivar. The objective of this study was to further characterize the resistance to races 1, 5, 7 and 9 of Psp included in UI3. Using a QTL mapping approach, 16 and 11 main-effect QTLs for pod and primary leaf resistance were located on LG10, explaining up to 90% and 26% of the phenotypic variation, respectively. The homologous genomic region corresponding to primary leaf resistance QTLs detected tested positive for the presence of resistance-associated gene cluster encoding nucleotide-binding and leucine-rich repeat (NL), Natural Resistance Associated Macrophage (NRAMP) and Pentatricopeptide Repeat family (PPR) proteins. It is worth noting that the main effect QTLs for resistance in pod were located inside a 3.5 Mb genomic region that included the Phvul.010G021200 gene, which encodes a protein that has the highest sequence similarity to the RIN4 gene of Arabidopsis, and can be considered an important candidate gene for the organ-specific QTLs identified here. These results support that resistance to Psp from UI3 might result from the immune response activated by combinations of R proteins, and suggest the guard model as an important mechanism in pod resistance to halo blight. The candidate genes identified here warrant functional studies that will help in characterizing the actual defense gene(s) in UI3 genotype.


Asunto(s)
Resistencia a la Enfermedad , Genes de Plantas , Phaseolus/genética , Phaseolus/microbiología , Enfermedades de las Plantas/genética , Enfermedades de las Plantas/microbiología , Pseudomonas syringae , Mapeo Cromosómico , Ligamiento Genético , Marcadores Genéticos , Genoma de Planta , Genómica/métodos , Interacciones Huésped-Patógeno/genética , Pseudomonas syringae/fisiología , Sitios de Carácter Cuantitativo
10.
J Surg Educ ; 81(9): 1249-1257, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-38944584

RESUMEN

BACKGROUND: Several factors contribute to surgical outcome disparities, including structural racism and implicit bias. Research into how surgical residency programs intervene on Cultural Complications via education remains sparse. We review the literature for how surgical residency programs use education to combat staff and patient exposure to Cultural Complications. METHODS: We searched PubMed, SCOPUS, and Google Scholar for curricula aimed at improving cultural competency in surgical residencies. OBGYN curricula were included. Non-US studies were excluded. RESULTS: Studies were organized by intervention type: Didactic, Grand Rounds, and M&M. The most common interventions were Didactics, with Grand Rounds being the least common. Target measures improved anywhere from 20-88%. CONCLUSIONS: The common types of cultural competency curricula are clear, and certain interventions show improvement in trainees' education. Scarcity of data on these curricula does not necessarily indicate their lack of existence but does suggest additional research is needed into curricular interventions and how they may address cultural complications.


Asunto(s)
Competencia Cultural , Curriculum , Cirugía General , Internado y Residencia , Competencia Cultural/educación , Humanos , Cirugía General/educación , Educación de Postgrado en Medicina/métodos
11.
J Neuroimaging ; 34(1): 26-43, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-37933199

RESUMEN

Skull lesions in pediatric population are common findings on imaging and sometimes with heterogeneous manifestations, constituting a diagnostic challenge. Some lesions can be misinterpreted for their aggressiveness, as with larger lesions eroding cortical bone, containing soft tissue components, leading to excessive and, in some cases, invasive inappropriate etiological investigation. In this review, we present multiple several conditions that may present as skull lesions or pseudolesions, organized by groups (anatomic variants, congenital and development disorders, traumatic injuries, vascular issues, infectious conditions, and tumoral processes). Anatomic variants are common imaging findings that must be recognized by the neuroradiologist. Congenital malformations are rare conditions, such as aplasia cutis congenita and sinus pericranii, usually seen at earlier ages, the majority of which are benign findings. In case of trauma, cephalohematoma, growing skull fractures, and posttraumatic lytic lesions should be considered. Osteomyelitis tends to be locally aggressive and may mimic malignancy, in which cases, the clinical history can be the key to diagnosis. Vascular (sickle cell disease) and tumoral (aneurismal bone cyst, eosinophilic granuloma, metastases) lesions are relatively rare lesions but should be considered in the differential diagnosis, in the presence of certain imaging findings. The main difficulty is the differentiation between the benign and malignant nature; therefore, the main objective of this pictorial essay is to review the main skull lytic lesions found in pediatric age, describing the main findings in different imaging modalities (CT and MRI), allowing the neuroradiologist greater confidence in establishing the differential diagnosis, through a systematic and simple characterization of the lesions.


Asunto(s)
Imagen por Resonancia Magnética , Cráneo , Humanos , Niño , Cráneo/diagnóstico por imagen , Cráneo/patología , Imagen por Resonancia Magnética/métodos , Cabeza , Diagnóstico Diferencial , Hematoma/patología
12.
Ann Thorac Surg ; 2024 Aug 28.
Artículo en Inglés | MEDLINE | ID: mdl-39214441

RESUMEN

BACKGROUND: Before lung cancer resection, patients inquire about dyspnea and the potential need for supplemental oxygen. Our objective was to identify predictors of discharge with supplemental oxygen for patients undergoing lobectomy for lung cancer. METHODS: Using the Society of Thoracic Surgeons General Thoracic Surgery Database, we conducted a retrospective cohort study of patients undergoing lobectomy for lung cancer from July 2018 - December 2021. Multivariable logistic regression was used to determine the adjusted association of pulmonary function with discharge on supplemental oxygen and identify independent predictors of discharge with supplemental oxygen. Pulmonary function was modeled as the minimum of either ppoFEV1 or ppoDLCO. RESULTS: Overall, 2,100 (8.4%) patients undergoing lobectomy were discharged with supplemental oxygen. Those with a minimum of either ppoFEV1 or ppoDLCO ≤60% had a progressively increased risk of discharge with supplemental oxygen than those with minimum function >60%. The two strongest predictors of discharge with supplemental oxygen were increasing BMI (25-29 aOR 1.38, 95%CI 1.21-1.57, 30-39 aOR 2.14, 95%CI 1.88-2.45, ≥40 aOR 3.51, 95%CI 2.79-4.39, reference 18.5-24) and former (aOR 2.04, 95%CI 1.67-2.52) and current (aOR 2.61, 95%CI 2.10-3.26) smoking status (reference never smoker). CONCLUSIONS: Of those undergoing lobectomy for lung cancer, 8.4% were discharged with supplemental oxygen. We identified preoperative independent predictors of discharge with supplemental oxygen that may be useful during shared decision-making discussions of treatment options for lung cancer and setting expectations with patients.

13.
J Surg Educ ; 81(7): 1004-1011, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38760190

RESUMEN

BACKGROUND: As the US demographic evolves, surgical fields must adapt to ensure equitable healthcare. Healthcare disparities notably affect minority populations, with communities of color often facing physician shortages and higher rates of diseases such as coronary disease, stroke, and cancer. Research shows that minority physicians significantly improve patient satisfaction and outcomes in underserved communities, highlighting the need for increased physician diversity to enhance cultural competency and patient centered care. Data from the Association of American Medical Colleges (AAMC) reveals minimal increases in underrepresented minorities (URM) in surgical residency and academic careers over the past thirty-six years, with little change URM applicants and matriculants in the nine surgical specialties recognized by the American College of Surgeons from 2010 to 2018. OBJECTIVE: This review aims to critically evaluate the current landscape of racial and gender diversity in six out of the nine defined surgical specialties (general surgery, plastic surgery, neurosurgery, orthopedic surgery, cardiothoracic surgery, and vascular surgery) in the US. DESIGN: We conducted a comprehensive literature review to assess of the state of diversity within surgical specialties in the United States. By analyzing the benefits of diversity in surgical fields, evaluating the effectiveness of various diversity programs and initiatives, examining the comparative diversity between surgical subspecialties, and assessing the impact of diversity on patient outcomes, our aim is to highlight the critical importance of enhancing diversity in surgical fields. RESULTS: While nuances in representation and diversity vary across surgical specialties, all fields persistently exhibit underrepresentation of certain racial/ethnic groups and persistent gender disparities. These disparities manifest throughout various phases, including in residency, and in the recruitment and retention of URM individuals in surgery and surgical subspecialties. While interventions over the past decade have contributed to improving diversity in surgical fields, significant disparities persist. Limitations include the time required for recent interventions to show significant impacts and the inability of established interventions to eliminate disparities. CONCLUSIONS: Despite the clear benefits, diversity within surgical specialties remains an uphill battle. Addressing the diversity gap in surgical fields is crucial for improving patient outcomes, healthcare access, and workplace environments, requiring strategies such as targeted recruitment, mentorship programs, and addressing systemic biases. This review highlights the undeniable imperative for change and serve a call to action.


Asunto(s)
Diversidad Cultural , Grupos Minoritarios , Especialidades Quirúrgicas , Especialidades Quirúrgicas/educación , Humanos , Estados Unidos , Grupos Minoritarios/estadística & datos numéricos , Predicción , Masculino , Femenino
14.
Biomark Res ; 11(1): 7, 2023 Jan 18.
Artículo en Inglés | MEDLINE | ID: mdl-36650586

RESUMEN

Over the past decade, targeted therapy for oncogene-driven NSCLC and immune checkpoint inhibitors for non-oncogene-driven NSCLC, respectively, have greatly improved the survival and quality of life for patients with unresectable NSCLC. Increasingly, these biomarker-guided systemic therapies given before or after surgery have been used in patients with early-stage NSCLC. In March 2022, the US FDA granted the approval of neoadjuvant nivolumab and chemotherapy for patients with stage IB-IIIA NSCLC. Several phase II/III trials are evaluating the clinical efficacy of various neoadjuvant immune checkpoint inhibitor combinations for non-oncogene-driven NSCLC and neoadjuvant molecular targeted therapies for oncogene-driven NSCLC, respectively. However, clinical application of precision neoadjuvant treatment requires a paradigm shift in the biomarker testing and multidisciplinary collaboration at the diagnosis of early-stage NSCLC. In this comprehensive review, we summarize the current diagnosis and treatment landscape, recent advances, new challenges in biomarker testing and endpoint selections, practical considerations for a timely multidisciplinary collaboration at diagnosis, and perspectives in emerging neoadjuvant precision systemic therapy for patients with resectable, early-stage NSCLC. These biomarker-guided neoadjuvant therapies hold the promise to improve surgical and pathological outcomes, reduce systemic recurrences, guide postoperative therapy, and improve cure rates in patients with resectable NSCLC.

15.
Clin Imaging ; 98: 26-35, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-36996597

RESUMEN

Vasculitis is a complication of several infectious diseases affecting the central nervous system, which may result in ischemic and/or hemorrhagic stroke, transient ischemic attack, and aneurysm formation. The infectious agent may directly infect the endothelium, causing vasculitis, or indirectly affect the vessel wall through an immunological mechanism. The clinical manifestations of these complications usually overlap with those of non-infectious vascular diseases, making diagnosis challenging. Intracranial vessel wall magnetic resonance imaging (VWI) enables the evaluation of the vessel wall and the diseases that affect it, providing diagnostic data beyond luminal changes and enabling the identification of inflammatory changes in cerebral vasculitis. This technique demonstrates concentric vessel wall thickening and gadolinium enhancement, associated or not with adjacent brain parenchymal enhancement, in patients with vasculitis of any origin. It permits the detection of early alterations, even before a stenosis occurs. In this article, we review the intracranial vessel wall imaging features of infectious vasculitis of bacterial, viral, and fungal etiologies.


Asunto(s)
Enfermedades Transmisibles , Vasculitis del Sistema Nervioso Central , Humanos , Angiografía por Resonancia Magnética/métodos , Medios de Contraste , Angiografía Cerebral/métodos , Gadolinio , Imagen por Resonancia Magnética , Vasculitis del Sistema Nervioso Central/diagnóstico por imagen , Vasculitis del Sistema Nervioso Central/patología
16.
Arq Neuropsiquiatr ; 81(12): 1134-1145, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-38157879

RESUMEN

In recent decades, there have been significant advances in the diagnosis of diffuse gliomas, driven by the integration of novel technologies. These advancements have deepened our understanding of tumor oncogenesis, enabling a more refined stratification of the biological behavior of these neoplasms. This progress culminated in the fifth edition of the WHO classification of central nervous system (CNS) tumors in 2021. This comprehensive review article aims to elucidate these advances within a multidisciplinary framework, contextualized within the backdrop of the new classification. This article will explore morphologic pathology and molecular/genetics techniques (immunohistochemistry, genetic sequencing, and methylation profiling), which are pivotal in diagnosis, besides the correlation of structural neuroimaging radiophenotypes to pathology and genetics. It briefly reviews the usefulness of tractography and functional neuroimaging in surgical planning. Additionally, the article addresses the value of other functional imaging techniques such as perfusion MRI, spectroscopy, and nuclear medicine in distinguishing tumor progression from treatment-related changes. Furthermore, it discusses the advantages of evolving diagnostic techniques in classifying these tumors, as well as their limitations in terms of availability and utilization. Moreover, the expanding domains of data processing, artificial intelligence, radiomics, and radiogenomics hold great promise and may soon exert a substantial influence on glioma diagnosis. These innovative technologies have the potential to revolutionize our approach to these tumors. Ultimately, this review underscores the fundamental importance of multidisciplinary collaboration in employing recent diagnostic advancements, thereby hoping to translate them into improved quality of life and extended survival for glioma patients.


Nas últimas décadas, houve avanços significativos no diagnóstico de gliomas difusos, impulsionados pela integração de novas tecnologias. Esses avanços aprofundaram nossa compreensão da oncogênese tumoral, permitindo uma estratificação mais refinada do comportamento biológico dessas neoplasias. Esse progresso culminou na quinta edição da classificação da OMS de tumores do sistema nervoso central (SNC) em 2021. Esta revisão abrangente tem como objetivo elucidar esses avanços de forma multidisciplinar, no contexto da nova classificação. Este artigo irá explorar a patologia morfológica e as técnicas moleculares/genéticas (imuno-histoquímica, sequenciamento genético e perfil de metilação), que são fundamentais no diagnóstico, além da correlação dos radiofenótipos da neuroimagem estrutural com a patologia e a genética. Aborda sucintamente a utilidade da tractografia e da neuroimagem funcional no planejamento cirúrgico. Destacaremos o valor de outras técnicas de imagem funcional, como ressonância magnética de perfusão, espectroscopia e medicina nuclear, na distinção entre a progressão do tumor e as alterações relacionadas ao tratamento. Discutiremos as vantagens das diferentes técnicas de diagnóstico na classificação desses tumores, bem como suas limitações em termos de disponibilidade e utilização. Além disso, os crescentes avanços no processamento de dados, inteligência artificial, radiômica e radiogenômica têm grande potencial e podem em breve exercer uma influência substancial no diagnóstico de gliomas. Essas tecnologias inovadoras têm o potencial de revolucionar nossa abordagem a esses tumores. Em última análise, esta revisão destaca a importância fundamental da colaboração multidisciplinar na utilização dos recentes avanços diagnósticos, com a esperança de traduzi-los em uma melhor qualidade de vida e uma maior sobrevida.


Asunto(s)
Neoplasias Encefálicas , Neoplasias del Sistema Nervioso Central , Glioma , Humanos , Inteligencia Artificial , Calidad de Vida , Glioma/diagnóstico por imagen , Glioma/genética , Imagen por Resonancia Magnética , Neoplasias Encefálicas/diagnóstico por imagen , Neoplasias Encefálicas/genética , Neoplasias del Sistema Nervioso Central/diagnóstico por imagen
17.
Brain Sci ; 13(8)2023 Aug 05.
Artículo en Inglés | MEDLINE | ID: mdl-37626525

RESUMEN

OBJECTIVE: To report a series of atypical presentations of Aicardi-Goutières syndrome. METHODS: Clinical, neuroimaging, and genetic data. RESULTS: We report a series of six unrelated patients (five males) with a subacute loss of developmental milestones, pyramidal signs, and regression of communication abilities, with onset at ages ranging from 7 to 20 months, reaching a nadir after 4 to 24 weeks. A remarkable improvement of lost abilities occurred in the follow-up, and they remained with residual spasticity and dysarthria but preserved cognitive function. Immunization or febrile illness occurred before disease onset in all patients. CSF was normal in two patients, and in four, borderline or mild lymphocytosis was present. A brain CT scan disclosed a subtle basal ganglia calcification in one of six patients. Brain MRI showed asymmetric signal abnormalities of white matter with centrum semi-ovale involvement in five patients and a diffuse white matter abnormality with contrast enhancement in one. Four patients were diagnosed and treated for acute demyelinating encephalomyelitis (ADEM). Brain imaging was markedly improved with one year or more of follow-up (average of 7 years), but patients remained with residual spasticity and dysarthria without cognitive impairment. Demyelination relapse occurred in a single patient four years after the first event. Whole-exome sequencing (WES) was performed in all patients: four of them disclosed biallelic pathogenic variants in RNASEH2B (three homozygous p.Ala177Thr and one compound heterozygous p.Ala177Thr/p.Gln58*) and in two of them the same homozygous deleterious variants in RNASEH2A (p.Ala249Val). CONCLUSIONS: This report expands the phenotype of AGS to include subacute developmental regression with partial clinical and neuroimaging improvement. Those clinical features might be misdiagnosed as ADEM.

18.
Thorac Surg Clin ; 32(1): 91-102, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-34801200

RESUMEN

Despite an ever-diversifying US population, women, and underrepresented minorities lack proportionate membership in the CT surgery workforce. CT surgery is the surgical specialty practiced by the oldest surgeons as a group. This highlights a deficit within our specialty and foreshadows a shrinking of the CT surgery workforce that will be compounded by a lack of diversity as the workforce ages. If CT surgery is to continue to advance forward and attract the brightest, most skilled, and innovative people, we must invite, encourage, and guide qualified individuals from all races, cultures, genders, sexual orientations, and experiences to join us.


Asunto(s)
Cirujanos , Cirugía Torácica , Procedimientos Quirúrgicos Torácicos , Femenino , Humanos , Masculino , Grupos Minoritarios , Estados Unidos , Recursos Humanos
19.
Semin Thorac Cardiovasc Surg ; 34(4): 1248-1252, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-34543724

RESUMEN

A diversity gap exists within cardiothoracic (CT) surgery that might be addressed with currently available medical student pipeline programs. We sought to assess CT surgery residency/fellowship program directors' (PD) awareness of and participation in underrepresented in medicine visiting medical student clerkship programs (UIM-VMSCPs). We reviewed the ACGME program finder database and medical school websites to identify thoracic surgery training programs that: (1) offer visiting student clerkships (VSCs), (2) are affiliated with an institution offering a UIM-VMSCP, (3) are at an institution where the existing UIM-VMSCP specifically offers rotations in CT surgery. The PDs in the second group were surveyed via e-mail, assessing their level of awareness of UIM-VMSCPs at their institution, participation in UIM-VMSCPs over the past 3 years, and desire to participate in a UIM-VMSCP in the future. All (n = 76) ACGME CT surgery training programs were affiliated with institutions that offered VSCs in multiple disciplines. Over half, 55.3%, of the programs offered access to visiting students and 61.8% were at institutions with existing UIM-VMSCPs. Our response rate for the 47 PDs from institutions with UIM-VMSCPs was 38.2%. Of the respondents, 61.1% were aware of the UIM-VMSCP at their institution and 44.4% participated in the past 3 years. Most, 88.9% were interested in participating in their institution's UIM-VMSCP in the future. Only half of CT surgery training programs offer VSCs and even fewer are at institutions with an existing UIM-VMSCP that offers a CT surgery clerkship. This is a lost opportunity to broaden exposure to the specialty and increase diversity within the CT surgery workforce.


Asunto(s)
Internado y Residencia , Estudiantes de Medicina , Cirugía Torácica , Humanos , Resultado del Tratamiento , Facultades de Medicina
20.
JAMA Surg ; 157(3): 269-274, 2022 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-35080596

RESUMEN

IMPORTANCE: Thoracostomy, or chest tube placement, is used in a variety of clinical indications and can be lifesaving in certain circumstances. There have been developments and modifications to thoracostomy tubes, or chest tubes, over time, but they continue to be a staple in the thoracic surgeon's toolbox as well as adjacent specialties in medicine. This review will provide the nonexpert clinician a comprehensive understanding of the types of chest tubes, indications for their effective use, and key management details for ideal patient outcomes. OBSERVATIONS: This review describes the types of chest tubes, indications for use, techniques for placement, common anatomical landmarks that are encountered with placement and management, and an overview of complications that may arise with tube thoracostomy. In addition, the future direction of chest tubes is explored, as well as the management of chest tubes during the COVID-19 pandemic. CONCLUSIONS AND RELEVANCE: Chest tube management is subjective, but the compilation of data can inform best practices and safe application to successfully manage the pleural space and ameliorate acquired pleural space disease.


Asunto(s)
COVID-19 , Tubos Torácicos , Humanos , Pandemias , SARS-CoV-2 , Toracostomía/métodos
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