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1.
Acad Radiol ; 2024 May 10.
Artigo em Inglês | MEDLINE | ID: mdl-38734577

RESUMO

RATIONALE AND OBJECTIVES: Perianal fistulas on18F-fluorodeoxyglucose positron emission tomography-computed tomography (FDG-PET/CT) can be an incidental site of FDG uptake in patients undergoing PET for other indications. There are no longitudinal studies describing FDG uptake patterns in perianal fistulas. Therefore, we aimed to analyze changes in FDG uptake over time in patients with incidental perianal fistulas. PATIENTS AND METHODS: Patients who underwent at least two FDG-PET/CTs between January 2011 and May 2023, with incidental perianal fistula, were retrospectively identified. We analyzed all sequential PET/CTs to determine the presence of a perianal fistula and recorded the fistula's maximum standardized uptake value (SUVmax). Statistical analysis compared fistula FDG-avidity in the initial versus final PET/CT examinations and assessed the correlation between initial fistula SUVmax and percent change over time. RESULTS: The study included 15 fistulas in 14 patients, with an average of 5 PET/CT examinations per patient. The average interval between the first and last PET/CT was 24 months (range: 6-64). The average initial fistula SUVmax (11.28 ± 3.81) was significantly higher than the final fistula SUVmax (7.22 ± 3.99) (p = 0.0067). The fistula SUVmax declined by an average of 32.01 ± 35.33% with no significant correlation between initial fistula SUVmax and percent change over time (r = -0.213, p = 0.443, 95% CI -0.66-0.35). CONCLUSION: FDG uptake in perianal fistulas shows temporal fluctuations but follows a decreasing SUVmax trend, possibly indicating a relationship with inflammatory activity. Further studies with larger cohorts paired with perianal fistula pelvic MR imaging are needed to validate these observations and their utility in guiding further management.

2.
Acad Radiol ; 2024 Jan 03.
Artigo em Inglês | MEDLINE | ID: mdl-38177032

RESUMO

RATIONALE AND OBJECTIVES: The use of 18F-fluorodeoxyglucose positron emission tomography-computed tomography (FDG-PET/CT) in assessing inflammatory diseases has shown significant promise. Uptake patterns in perianal fistulas, which may be an incidental finding on PET/CT, have not been purposefully studied. Our aim was to compare FDG uptake of perianal fistulas to that of the liver and anal canal in patients who underwent PET/CT for hematologic/oncologic diagnosis or staging. MATERIALS AND METHODS: We retrospectively identified patients who underwent FDG-PET/CT imaging between January 2011 and May 2023, where the report described a perianal fistula or abscess. PET/CTs of patients included in the study were retrospectively analyzed to record the maximum standardized uptake value (SUVmax) of the fistula, abscess, anal canal, rectum, and liver. Fistula-to-liver and Fistula-to-anus SUVmax ratios were calculated. We statistically compared FDG activity among the fistula, liver, and anal canal. We also assessed FDG activity in patients with vs. without anorectal cancer, as well as across different St. James fistula grades. RESULTS: The study included 24 patients with identifiable fistulas. Fistula SUVmax (mean=10.8 ± 5.28) was significantly higher than both the liver (mean=3.09 ± 0.584, p < 0.0001) and the anal canal (mean=5.98 ± 2.63, p = 0.0005). Abscess fistula SUVmax was 15.8 ± 4.91. St. James grade 1 fistulas had significantly lower SUVmax compared to grades 2 and 4 (p = 0.0224 and p = 0.0295, respectively). No significant differences existed in SUVmax ratios between anorectal and non-anorectal cancer groups. CONCLUSION: Perianal fistulas have increased FDG avidity with fistula SUVmax values that are significantly higher than the anal canal.

4.
Polymers (Basel) ; 15(21)2023 Nov 02.
Artigo em Inglês | MEDLINE | ID: mdl-37959986

RESUMO

In recent years, 3D printing (3DP) has advanced traditional medical treatments. This review explores the fusion of reverse engineering and 3D printing of medical implants, with a specific focus on drug delivery applications. The potential for 3D printing technology to create patient-specific implants and intricate anatomical models is discussed, along with its ability to address challenges in medical treatment. The article summarizes the current landscape, challenges, benefits, and emerging trends of using 3D-printed formulations for medical implantation and drug delivery purposes.

5.
JSES Rev Rep Tech ; 3(4): 469-476, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37928980

RESUMO

Background: Anterior shoulder instability is a common problem around the world, with a high risk for recurrence following the index dislocation. Surgical stabilization is commonly indicated for persistent instability, particularly in patients at high risk for recurrence, to minimize the risk of further labral injury and glenoid bone loss. However, there is little known about global geographic differences in the surgical management of anterior shoulder instability. As such, the purpose of this study was to evaluate and systematically review regional differences in the surgical treatment of anterior shoulder instability, particularly the indications for and outcomes from bony stabilization procedures compared to soft tissue procedures. Methods: A systematic review, in accordance with the 2020 Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, was performed. Inclusion criteria consisted of level I and II evidence studies evaluating indications, techniques, and outcomes following operative management of anterior shoulder instability published from January 2000 to September 2021. Studies meeting inclusion criteria were grouped into four global regions (Asia, Europe, North America, South America) based on primary study location. Patient demographics, procedural details, patient reported outcomes, and complications (recurrence and reoperation rates) were compared between regions. Results: Sixty (n = 60) studies (5480 patients) were identified. Eighty-six percent of all patients were male, with a mean age of 26.7 years. There was no difference in mean patient age, though patients undergoing bony stabilization procedures were older than those undergoing soft-tissue stabilization procedures (P = .0002) in all regions. The proportion of bony versus soft-tissue procedure groups did not differ significantly among regions. The indications for bony stabilization procedures varied significantly. Mean final follow-up was 3.5 years. Recurrent instability was 5.0% and did not vary across regions. However, recurrent instability occurred more frequently following soft-tissue compared to bony stabilization procedures (P = .017). South American studies utilized fewer anchors during soft tissue stabilization (P < .0001) and reported a higher reoperation rate compared to other regions (P = .009). Conclusion: There is global variation in the reporting of outcomes following surgery for anterior shoulder instability. The proportion of bony and soft-tissue procedures is similar, irrespective of geographic region. Recurrent instability does not vary by region but occurs more frequently following soft-tissue compared to bony stabilization procedures. There are a number of potential medical and nonmedical factors that may affect global variation in the surgical treatment of anterior shoulder instability.

6.
Emerg Radiol ; 30(6): 711-717, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37857761

RESUMO

PURPOSE: Fournier's gangrene (FG), a rapidly progressive necrotizing soft tissue infection of the external genitalia and perineum, necessitates urgent surgical debridement. The time to surgery effect of preoperative computed tomography (CT) in managing this condition is yet to be fully explored. The purpose of this study was to assess whether obtaining a preoperative CT in patients with FG impacts the time to surgical intervention. METHODS: This was a single-center retrospective study of patients who underwent CT prior to surgical debridement of FG during a 9-year period vs patients who did not undergo CT. In 76 patients (male = 39, mean age = 51.8), 38 patients with FG received a preoperative CT, and 38 patients with FG did not receive CT prior to surgical debridement. Time to operating room and outcome metrics were compared between CT and non-CT groups. RESULTS: The time from hospital presentation to surgical intervention was not significantly different between patients who underwent CT and those who did not (6.65 ± 3.71 vs 5.73 ± 4.33 h, p = 0.37). There were also no significant differences in cost ($130,000 ± $102,000 vs $142,000 ± $152,000, p = 0.37), mortality (8 vs 7, p = 1), duration of hospital stay (15.5 ± 15 vs 15.7 ± 11.6 days, p = 0.95), average intensive care unit stay (5.82 ± 5.38 days vs 6.97 ± 8.58 days, p = 0.48), and APACHE score (12 ± 4.65 vs 13.9 ± 5.6, p =0.12). CONCLUSION: Obtaining a preoperative CT did not delay surgical intervention in patients with FG.


Assuntos
Gangrena de Fournier , Humanos , Masculino , Pessoa de Meia-Idade , Gangrena de Fournier/diagnóstico por imagem , Gangrena de Fournier/cirurgia , Estudos Retrospectivos , Desbridamento/métodos , Períneo , Tomografia
7.
Micromachines (Basel) ; 14(10)2023 Oct 14.
Artigo em Inglês | MEDLINE | ID: mdl-37893365

RESUMO

Three-dimensionally printed phantoms are increasingly used in medical imaging and research due to their cost-effectiveness and customizability, offering valuable alternatives to commercial phantoms. The purpose of this study was to assess the computed tomography (CT) attenuation characteristics of 27 resin materials from Formlabs, a 3D printing equipment and materials manufacturer. Cube phantoms (both solid and hollow constructions) produced with each resin were subjected to CT scanning under varying tube current-time products with attenuation measurements recorded in Hounsfield units (HU). The resins exhibited a wide range of attenuation values (-3.33 to 2666.27 HU), closely mimicking a range of human tissues, from fluids to dense bone structures. The resins also demonstrated consistent attenuation regardless of changes in the tube current. The CT attenuation analysis of FormLabs resins produced an archive of radiological imaging characteristics of photopolymers that can be utilized to construct more accurate tissue mimicking medical phantoms and improve the evaluation of imaging device performance.

8.
J Cardiovasc Dev Dis ; 10(8)2023 Aug 14.
Artigo em Inglês | MEDLINE | ID: mdl-37623360

RESUMO

Together, the Camper's and Scarpa's fasciae form the superficial fat layer of the abdominal wall. Though they have clinical and surgical relevance, little is known about their role in body composition across diverse patient populations. This study aimed to determine the relationship between patient characteristics, including sex and body mass index, and the distribution of Camper's and Scarpa's fascial layers in the abdominal wall. A total of 458 patients' abdominal CT examinations were segmented via CoreSlicer 1.0 to determine the surface area of each patient's Camper's, Scarpa's, and visceral fascia layers. The reproducibility of segmentation was corroborated by an inter-rater analysis of segmented data for 20 randomly chosen patients divided between three study investigators. Pearson correlation and Student's t-test analyses were performed to characterize the relationship between fascia distribution and demographic factors. The ratios of Camper's fascia, both as a proportion of superficial fat (r = -0.44 and p < 0.0001) and as a proportion of total body fat (r = -0.34 and p < 0.0001), showed statistically significant negative correlations with BMI. In contrast, the ratios of Scarpa's fascia, both as a proportion of superficial fat (r = 0.44 and p < 0.0001) and as a proportion of total body fat (r = 0.41 and p < 0.0001), exhibited statistically significant positive correlations with BMI. Between sexes, the females had a higher ratio of Scarpa's facia to total body fat compared to the males (36.9% vs. 31% and p < 0.0001). The ICC values for the visceral fat, Scarpa fascia, and Camper fascia were 0.995, 0.991, and 0.995, respectively, which were all within the 'almost perfect' range (ICC = 0.81-1.00). These findings contribute novel insights by revealing that as BMI increases the proportion of Camper's fascia decreases, while the ratio of Scarpa's fascia increases. Such insights expand the scope of body composition studies, which typically focus solely on superficial and visceral fat ratios.

9.
Artigo em Inglês | MEDLINE | ID: mdl-37533874

RESUMO

COVID-19 forced surgical resident training programs to adapt to meet educational requirements within the constraints of various guidelines. Some of the changes implemented during the pandemic have imparted a lasting effect on orthopaedic education. As such, the purpose of this article was to review how orthopaedic training and education were affected during the COVID-19 pandemic. Methods: The published literature was queried using search strategies devised by a medical librarian, according to the Preferred Reporting Items for Systematic Review and Meta-Analyses guidelines. Studies eligible for inclusion were studies related to COVID-19, orthopaedic surgical training, and medical education. Studies were excluded if they (1) were abstracts, conference proceedings, letters, perspective pieces, reviews, or editorials; (2) evaluated medical student education; (3) included other specialties; or (4) were unrelated to COVID-19 and/or orthopaedic training. Results: Eighty-three (n = 83) studies were included. Five themes emerged including (I) Fellowship Application, Interview, and Match Processes; (II) Social Media and Websites for Program Information; (III) Changes in Trainee Surgical Volume; (IV) Trainee Mental Health and Well-being; and (V) Innovations in Education. The pandemic decreased opportunities for medical students to gain exposure to orthopaedic surgery. Social media use, particularly Instagram, among orthopaedic residencies increased during the pandemic. Between the cancellation of away rotations and in-person interviews, applicants saved over $6,000; however, both residency applicants and interviewers preferred in-person interviews. The pandemic led to decreased surgical volume and in-person didactics for trainees, thus relying more on virtual learning. Orthopaedic trainees had mixed feelings regarding online virtual education. Although some respondents reported that they preferred the convenience of online learning, others expressed dissatisfaction with the quality of virtual education. Conclusions: The shift to virtual learning affected how applicants learned about residency programs, with many relying on virtual away rotations and social media to compare different programs. The pandemic also highlighted issues of diversity and accessibility within orthopaedic surgery, with cost savings from virtual interviews and canceled away rotations potentially benefiting applicants from lower socioeconomic backgrounds. Although some innovative approaches and adaptations to orthopaedic education and training have shown promise and may continue to be used in the future after the COVID-19 pandemic, the role of others, such as virtual interviews, is less clear.

10.
Appl Sci (Basel) ; 13(12)2023 Jun 02.
Artigo em Inglês | MEDLINE | ID: mdl-37621554

RESUMO

Background: To report the evaluation of incentive spirometry (IS)-induced pressure changes in intra-abdominal drainage catheters and consider its use for maintaining catheter patency and enhancing drainage. Methods: Prospective study of patients with indwelling intra-abdominal drainage catheters for abdominal fluid collections who had their intra-abdominal pressures measured while performing incentive spirometry. Patients were instructed in the use of an incentive spirometer. Within a week after initial drainage, pressure changes with IS were evaluated three times at 1500 cc and three times at maximum inspiratory effort. Intra-abdominal pressure (IAP) was measured using a pressure monitor connected to the drainage catheter. Results: Twenty patients (men, 12; women, 8). Fluid collection locations were pelvis, Right-upper quadrant (RUQ), Left-upper quadrant (LUQ), Left-lower quadrant (LLQ), and Right-lower quadrant (RLQ). A total of 16 of 20 patients showed an elevation of IAP with IS. At 1500 cc, the pressure increased by an average of 41.24 mmH2O. At maximal inspiratory effort, the pressure increased by an average of 48.26 mmH2O. Pressure increase was greater in upper abdomen catheters. Four patients with lower abdominal and pelvic collections showed minimal pressure changes with IS. Conclusion: IS increases IAP and fluid flow through abdominal drainage catheters. Future studies are warranted to determine whether the use of IS enhances catheter performance and facilitates drainage via its effect on IAP.

11.
3D Print Med ; 9(1): 13, 2023 Apr 27.
Artigo em Inglês | MEDLINE | ID: mdl-37103761

RESUMO

RATIONALE AND OBJECTIVES: The purpose of this study is to summarize a survey of radiology chief residents focused on 3D printing in radiology. MATERIALS AND METHODS: An online survey was distributed to chief residents in North American radiology residencies by subgroups of the Association of University Radiologists. The survey included a subset of questions focused on the clinical use of 3D printing and perceptions of the role of 3D printing and radiology. Respondents were asked to define the role of 3D printing at their institution and asked about the potential role of clinical 3D printing in radiology and radiology residencies. RESULTS: 152 individual responses from 90 programs were provided, with a 46% overall program response rate (n = 90/194 radiology residencies). Most programs had 3D printing at their institution (60%; n = 54/90 programs). Among the institutions that perform 3D printing, 33% (n = 18/54) have structured opportunities for resident contribution. Most residents (60%; n = 91/152 respondents) feel they would benefit from 3D printing exposure or educational material. 56% of residents (n = 84/151) believed clinical 3D printing should be centered in radiology departments. 22% of residents (n = 34/151) believed it would increase communication and improve relationships between radiology and surgery colleagues. A minority (5%; 7/151) believe 3D printing is too costly, time-consuming, or outside a radiologist's scope of practice. CONCLUSIONS: A majority of surveyed chief residents in accredited radiology residencies believe they would benefit from exposure to 3D printing in residency. 3D printing education and integration would be a valuable addition to current radiology residency program curricula.

12.
Orthop J Sports Med ; 11(1): 23259671221144984, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36743725

RESUMO

Background: Characteristics regarding mechanism of injury, management, and return-to-play (RTP) rate and timing are important when treating and counseling athletes with rectus femoris tears. Purpose: To systematically review the literature to better understand the prevalence, sporting activity, injury mechanisms, and treatment of patients with rectus femoris injury and to provide prognostic information regarding the rate and timing of RTP. Study Design: Systematic review; Level of evidence, 4. Methods: Following the 2020 PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines, we queried PubMed/MEDLINE, Cochrane, OVID, EMBASE, and Google Scholar in March 2022 for studies reporting on athletes sustaining isolated, full-thickness tearing, or bony avulsion injuries to the proximal rectus femoris during sporting activity. Excluded were studies without evidence of full-thickness tearing or avulsion, with athletes sustaining concomitant injuries, or with injuries occurring from nonsporting activities. The percentage of athletes sustaining injuries was calculated based on sport, injury mechanism, and management (nonoperative versus operative). Results: Of 132 studies initially identified, 18 were included, comprising 132 athletes (mean age, 24.0 ± 5.4 years; range, 12-43 years). The most common sporting activities were soccer (70.5%) and rugby (15.2%). The most reported mechanisms of injury were kicking (47.6%) and excessive knee flexion/forced hip extension (42.9%). Avulsion injuries were reported in 86% (n = 114) of athletes. Nonoperative management was reported in 19.7% of athletes, with operative management performed in 80.3%. The mean follow-up time was 21.4 ± 11.4 months (range, 1.5-48 months). The RTP rate was 93.3% (n = 14) in nonoperatively treated and 100% (n = 106) in operatively treated athletes, and the mean RTP time was 11.7 weeks (range, 5.5-15.2 weeks) in nonoperatively treated and 22.1 weeks (range, 14.0-37.6 weeks) in operatively treated athletes. Complications were reported in 7.7% (2/26) of nonoperatively treated and 18% (n = 19/106) of operatively treated athletes. Conclusion: Full-thickness proximal rectus femoris injuries occurred most frequently in athletes participating in soccer and rugby secondary to explosive, eccentric contractions involved in kicking and sprinting. Operative management was performed in the majority of cases. Athletes who underwent operative repair had a 100% RTP rate versus 93.3% in athletes treated nonoperatively.

13.
Bone ; 167: 116618, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36410666

RESUMO

PURPOSE: To evaluate the effects of cyclic vs daily teriparatide treatment (TPTD) on volumetric bone mineral density (vBMD) and bone strength at the hip and spine in women who were previously untreated. METHODS: A total of 86 women were randomized to a 24-month open label treatment of either daily TPTD (20 µg daily) or cyclic TPTD (20 µg daily for 3 months followed by 3 months off). During a 2-year extension, women in the daily TPTD group were switched to alendronate (ALN) and those in the cyclic TPTD group continued on cyclic TPTD (without any ALN). QCT images were acquired at baseline, 2-years (n = 54) and 4-years (n = 35) and analyzed for volumetric integral, cortical and trabecular bone mineral density (vBMD) and bone strength (by finite element analysis) at the hip and spine. The primary analysis presented here compared the responses across equal total TPTD doses (2 years daily vs 4 years cyclic). RESULTS: In the spine, integral vBMD and strength increased substantially after 2 years daily and 4 years cyclic TPTD, with no significant differences (vBMD +12 % vs +11 %, respectively, p = 0.70; spine strength +21 % vs +16 %, respectively, p = 0.35). At the hip, the gains were smaller, but again no significant differences were detected between the groups for the increases in either vBMD (+2 % in both groups, p = 0.97) or hip strength (3 % vs 3 %, p = 0.91). In the spine, the vBMD increment was about twice as large in the trabecular vs peripheral compartment; in the hip, significant vBMD gain was seen only in the trabecular compartment. CONCLUSIONS: The gains in volumetric BMD and bone strength for an equivalent dose of TPTD did not depend on whether it was administered every day over two years or cyclically over four years.


Assuntos
Conservadores da Densidade Óssea , Osteoporose Pós-Menopausa , Osteoporose , Teriparatida , Feminino , Humanos , Alendronato/uso terapêutico , Densidade Óssea , Conservadores da Densidade Óssea/administração & dosagem , Conservadores da Densidade Óssea/uso terapêutico , Osteoporose/tratamento farmacológico , Osteoporose Pós-Menopausa/tratamento farmacológico , Pós-Menopausa , Teriparatida/administração & dosagem , Teriparatida/uso terapêutico
14.
J Pediatr Orthop ; 42(9): 521-531, 2022 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-35948527

RESUMO

BACKGROUND: The lack of a common patient-reported outcome metric used among the orthopaedic population is a problem that has been previously identified by the American Academy of Orthopaedic Surgeons. The Patient-Reported Outcomes Measurement Information System (PROMIS) was developed by the National Institute of Health with the goal of creating a precise and efficient measurement tool for patient-reported symptoms, functioning, and health-related quality of life to be used in clinical research. A study summarizing its use in the pediatric orthopaedic population has not been previously performed. METHODS: We performed a literature search of Ovid Medline, Embase, Scopus, and the Cochrane Central Register of Controlled Trials from 2010 to August 2021. There were 1961 unique citations included after the removal of 1756 duplicates. After initial screening, 183 studies were screened under full-text review leaving a final number of 51 studies included in this scoping review. RESULTS: Pediatric PROMIS studies were grouped by body part or sub-speciality: "Hand and Upper Extremity" (25.5%, n=13), "Sports" (23.5%, n=12), "Spine" (13.7%, n=7), "Trauma" (13.7%, n=7), "General Pediatric Orthopaedics" (11.8%, n=6), "Lower Extremity" (9.8%, n=5), and "Orthopaedic Oncology" (2%, n=1). An increase in studies utilizing PROMIS was seen throughout the study period with only 3 studies published from 2013 to 2016 to 39 in 2020 and 2021 alone. The 3 most frequently used pediatric PROMIS domains were Pain Interference (76.5%, n=39/51), Mobility (60.8%, n=31/51), and Upper Extremity (54.9%, n=28/51). 64.3% (n=9/14) of the included studies which reported on the floor effects of Pain Interference exhibited a significant floor effect. In all, 77.8% (n=7/9) of the included studies which reported on ceiling effects of Upper Extremity exhibited a significant ceiling effect. CONCLUSION: The use of PROMIS increased significantly since the first publication in 2013 suggesting orthopaedic providers have increasingly utilized PROMIS in their day-to-day practice as an outcome measure. Ceiling and floor effects were prominent in several of the included domains (Pain Interference and Upper Extremity). Overall, PROMIS measures are efficient, reliable, and effective to use. LEVEL OF EVIDENCE: IV.


Assuntos
Ortopedia , Criança , Humanos , Dor , Medidas de Resultados Relatados pelo Paciente , Qualidade de Vida , Extremidade Superior
15.
Methods ; 206: 41-52, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-35964862

RESUMO

Three-dimensional (3D) printing has applications in many fields and has gained substantial traction in medicine as a modality to transform two-dimensional scans into three-dimensional renderings. Patient-specific 3D printed models have direct patient care uses in surgical and procedural specialties, allowing for increased precision and accuracy in developing treatment plans and guiding surgeries. Medical applications include surgical planning, surgical guides, patient and trainee education, and implant fabrication. 3D printing workflow for a laboratory or clinical service that produces anatomic models and guides includes optimizing imaging acquisition and post-processing, segmenting the imaging, and printing the model. Quality assurance considerations include supervising medical imaging expert radiologists' guidance and self-implementing in-house quality control programs. The purpose of this review is to provide a workflow and guide for starting or optimizing laboratories and clinical services that 3D-print anatomic models or guides for clinical use.


Assuntos
Modelos Anatômicos , Impressão Tridimensional , Diagnóstico por Imagem , Humanos , Planejamento de Assistência ao Paciente
16.
Neurosurg Clin N Am ; 33(1): 91-104, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34801146

RESUMO

There are multiple syndromes associated with tumors of the central nervous system (CNS). The most common CNS tumor syndrome is neurofibromatosis-1, with well-defined major and minor criteria needed for diagnosis. Other syndromes with variable degree of CNS and extra-CNS involvement that the neurosurgeon should be aware of include neurofibromatosis-2; Turcot syndrome; Cowden syndrome; Gorlin syndrome; Li-Fraumeni syndrome; ataxia-telangiectasia; multiple endocrine neoplasia type 1; von Hippel-Lindau syndrome; and tuberous sclerosis complex. Although most CNS tumor syndromes follow an autosomal dominant pattern of inheritance, the genetic underpinnings of each disease are complex and increasingly better understood.


Assuntos
Neoplasias Encefálicas , Síndrome de Li-Fraumeni , Síndromes Neoplásicas Hereditárias , Esclerose Tuberosa , Doença de von Hippel-Lindau , Humanos , Síndrome de Li-Fraumeni/genética , Doença de von Hippel-Lindau/genética
17.
Front Neurosci ; 14: 562292, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33192249

RESUMO

A recurrent de novo mutation in the transcriptional corepressor CTBP1 is associated with neurodevelopmental disabilities in children (Beck et al., 2016, 2019; Sommerville et al., 2017). All reported patients harbor a single recurrent de novo heterozygous missense mutation (p.R342W) within the cofactor recruitment domain of CtBP1. To investigate the transcriptional activity of the pathogenic CTBP1 mutant allele in physiologically relevant human cell models, we generated induced pluripotent stem cells (iPSC) from the dermal fibroblasts derived from patients and normal donors. The transcriptional profiles of the iPSC-derived "early" neurons were determined by RNA-sequencing. Comparison of the RNA-seq data of the neurons from patients and normal donors revealed down regulation of gene networks involved in neurodevelopment, synaptic adhesion and anti-viral (interferon) response. Consistent with the altered gene expression patterns, the patient-derived neurons exhibited morphological and electrophysiological abnormalities, and susceptibility to viral infection. Taken together, our studies using iPSC-derived neuron models provide novel insights into the pathological activities of the CTBP1 p.R342W allele.

18.
Nutrients ; 12(6)2020 Jun 11.
Artigo em Inglês | MEDLINE | ID: mdl-32545408

RESUMO

Muscle health is important for the functionality and independence of older adults, and certain nutrients as well as dietary patterns have been shown to offer protective effects against declines in strength and function associated with aging. In this paper, micronutrients, macronutrients, and food groups have been reviewed, along with their studied effects on the prevalence and incidence of sarcopenia, as well as their ability to preserve muscle mass and optimize physical performance. Randomized controlled trials appear to suggest a critical role for dietary intake of protein in preventing sarcopenia and muscle loss, although the optimal dose and type of protein is unknown. There are some promising data regarding the role of vitamin D and sarcopenia, but it is unclear whether the dose, frequency of dose, or length of treatment impacts the efficacy of vitamin D on improving muscle mass or function. Selenium, magnesium, and omega 3 fatty acids have been studied as supplements in clinical trials and in the diet, and they appear to demonstrate a potential association with physical activity and muscle performance in older individuals. Following the Mediterranean diet and higher consumption of fruits and vegetables have been associated with improved physical performance and protection against muscle wasting, sarcopenia, and frailty.


Assuntos
Dieta Mediterrânea , Proteínas Alimentares/administração & dosagem , Suplementos Nutricionais , Ingestão de Alimentos/fisiologia , Fenômenos Fisiológicos da Nutrição do Idoso/fisiologia , Frutas , Músculo Esquelético/fisiologia , Sarcopenia/prevenção & controle , Verduras , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Exercício Físico/fisiologia , Feminino , Fragilidade/prevenção & controle , Humanos , Masculino , Prevalência , Sarcopenia/epidemiologia , Sarcopenia/etiologia , Vitamina D/administração & dosagem
19.
Medicines (Basel) ; 6(2)2019 Apr 05.
Artigo em Inglês | MEDLINE | ID: mdl-30959836

RESUMO

Colorectal cancer (CRC) is one of the leading causes of death in the United States. Chemotherapy and radiotherapy are some of the most commonly used treatments, but are often associated with severe side effects, and are not entirely curative. It is therefore important to consider other preventative treatment options. Phytochemicals are naturally occurring bioactive compounds which have been shown to play a role in cancer prevention and treatment, especially in regards to a person's lifestyle and diet. Recent evidence has shown that phytochemicals may exert their chemopreventative effects by targeting micro RNAs (miRNAs), which regulate the downstream expression of tumor suppressors and oncogenes. MiRNAs are small, endogenous, noncoding RNAs that regulate several biological processes through post-translational regulation. The dysregulation of miRNA expression has been shown to be associated with colorectal cancer. In this review, we will summarize and discuss several phytochemicals, which have been shown to exert chemopreventative effects in colorectal cancer by the modulation of miRNA expression.

20.
Genes Cancer ; 8(7-8): 673-681, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28966728

RESUMO

In colorectal cancer, chemotherapy and/or radiotherapy can lead to the formation of resistant cells that become metastatic through Epithelial-Mesenchymal Transition (EMT). Invasive and metastatic characteristics of carcinoma cells in primary tumors are mediated by EMT. During EMT, the primary tumor cells lose cell-cell adhesion, have increased intercellular separation, and gain an elongated shape with pseudopodia. There is also dysregulation of Polycomb group proteins (such as BMI1, SUZ12, and EZH2), and changes in the expression of microRNA-200 (miR-200) family. In this study, we developed a chemoresistant colorectal cancer cell line (DLD-1-OxR) by exposing DLD-1 colorectal cancer cells to increasing concentrations of oxaliplatin (a chemotherapy drug used for colorectal cancer), and tested for EMT characteristics. We found that DLD-1-OxR exhibited EMT characteristics by morphologic, biochemical and molecular markers. SUZ12, a Polycomb repressive complex 2 subunit, was upregulated in DLD-1-OxR. The miRNA-200 family members that target SUZ12 were downregulated. Drug resistance is an impediment to chemotherapy and understanding the molecular mechanisms of chemoresistance can lead to its reversal and improvement of chemotherapy outcomes.

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