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1.
PLoS Comput Biol ; 20(4): e1011990, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38598551

RESUMO

Prostate cancer is a heritable disease with ancestry-biased incidence and mortality. Polygenic risk scores (PRSs) offer promising advancements in predicting disease risk, including prostate cancer. While their accuracy continues to improve, research aimed at enhancing their effectiveness within African and Asian populations remains key for equitable use. Recent algorithmic developments for PRS derivation have resulted in improved pan-ancestral risk prediction for several diseases. In this study, we benchmark the predictive power of six widely used PRS derivation algorithms, including four of which adjust for ancestry, against prostate cancer cases and controls from the UK Biobank and All of Us cohorts. We find modest improvement in discriminatory ability when compared with a simple method that prioritizes variants, clumping, and published polygenic risk scores. Our findings underscore the importance of improving upon risk prediction algorithms and the sampling of diverse cohorts.


Assuntos
Algoritmos , Benchmarking , Predisposição Genética para Doença , Herança Multifatorial , Neoplasias da Próstata , Humanos , Neoplasias da Próstata/genética , Masculino , Benchmarking/métodos , Predisposição Genética para Doença/genética , Herança Multifatorial/genética , Estudos de Coortes , Fatores de Risco , Polimorfismo de Nucleotídeo Único/genética , Estudo de Associação Genômica Ampla/métodos , Biologia Computacional/métodos , Medição de Risco/métodos , Estudos de Casos e Controles , Estratificação de Risco Genético
2.
Ir Med J ; 117(4): 949, 2024 04 25.
Artigo em Inglês | MEDLINE | ID: mdl-38683115

RESUMO

Presentation A 53 year old male with known Chicago Classification type II achalasia, and successful pneumatic dilatation five years previously, presented with severe dysphagia and 17.5 kg weight loss over 3 months. Diagnosis He underwent OGD and contrast imaging to reveal a mega oesophagus secondary to progressive achalasia. Treatment After initial nutritional pre-habilitation with naso-enteric feeding, he underwent a laparoscopic heller's myotomy with clinical and radiological improvement. However quick relapse of symptoms and a failed, atonic, massively dilated oesophagus lead to the decision to proceed to transhiatal oesophagectomy. Discussion Achalasia is a spectrum of motility disorder, and where it has progressed to mega-oesophagus, the success of standard therapeutic approaches is limited. End stage achalasia in this context, with nutritional failure or recurrent pneumonia/bronchiectasis, can be safely treated with an oesophageal resection which is curative, removing a "failed" oesophagus in its entirety.


Assuntos
Acalasia Esofágica , Esofagectomia , Humanos , Acalasia Esofágica/cirurgia , Esofagectomia/métodos , Masculino , Feminino
3.
Am J Obstet Gynecol ; 2024 Apr 14.
Artigo em Inglês | MEDLINE | ID: mdl-38621481

RESUMO

BACKGROUND: Improved technologies paired with an increase in access to genetic testing have led to the availability of expanded carrier screening evaluating hundreds of disorders. Currently, most autosomal dominant mutations, such as BRCA1, are not included in expanded carrier assays. Screening pregnant or preconception reproductive-aged women for BRCA1 may present a unique opportunity to perform population-based screening for patients at a time when precancer screening, chemoprevention, and/or risk-reducing surgery may be beneficial. OBJECTIVE: This study aimed to inform clinical decision-making as to whether the universal incorporation of BRCA1 testing at the time of obstetrical prenatal carrier screening is cost-effective. STUDY DESIGN: A decision analysis and Markov model was created. The initial decision point in the model was BRCA1 testing at the time of expanded carrier screening. Model probabilities, cost, and utility values were derived from published literature. For BRCA1-positive patients, the model simulated breast cancer screening and risk-reducing surgical interventions. A cycle length of 1 year and a time horizon of 47 years were used to simulate the lifespan of patients. The setting was obstetrical clinics in the United States, and the participants were a theoretical cohort of 1,429,074 pregnant patients who annually underwent expanded carrier screening. RESULTS: Among our cohort, BRCA1 testing resulted in the identification of an additional 3716 BRCA1-positive patients, the prevention of 1394 breast and ovarian cancer cases, and 1084 fewer deaths. BRCA1 testing was a cost-effective strategy compared with no BRCA1 testing with an incremental cost-effectiveness ratio of $86,001 per quality-adjusted life years. In a 1-way sensitivity analysis, we varied the prevalence of BRCA1 in the population from 0.00% to 20.00% and found that BRCA1 testing continued to be the cost-effective strategy until the prevalence rate was reduced to 0.16%. Multiple additional sensitivity analyses did not substantially affect the cost-effectiveness. CONCLUSION: The addition of BRCA1 testing to obstetrical prenatal carrier screening is a cost-effective management strategy to identify at-risk women at a time when cancer screening and preventive strategies can be effective. Despite the burden of additional genetic counseling, prenatal care represents a unique opportunity to implement population-based genetic testing.

4.
Otol Neurotol ; 45(5): 542-548, 2024 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-38511274

RESUMO

OBJECTIVE: To compare recidivism rates, audiometric outcomes, and postoperative complication rates between soft-wall canal wall reconstruction (S-CWR) versus bony-wall CWR (B-CWR) with mastoid obliteration (MO) in patients with cholesteatoma. STUDY DESIGN: Retrospective chart review. SETTING: Tertiary neurotologic referral center. PATIENTS: Ninety patients aged ≥18 years old who underwent CWR with MO, either S-CWR or B-CWR, for cholesteatoma with one surgeon from January 2011 to January 2022. Patients were followed postoperatively for at least 12 months with or without second-look ossiculoplasty. INTERVENTIONS: Tympanomastoidectomy with CWR (soft vs. bony material) and mastoid obliteration. MAIN OUTCOME MEASURES: Recidivism rates; conversion rate to CWD; pre- versus postoperative pure tone averages, speech reception thresholds, word recognition scores, and air-bone gaps; postoperative complication rates. RESULTS: Middle ear and mastoid cholesteatoma recidivism rates were not significantly different between B-CWR (17.3%) and S-CWR (18.4%, p = 0.71). There was no significant difference in pre- versus postoperative change in ABG (B-CWR, -2.1 dB; S-CWR, +1.6 dB; p = 0.91) nor in the proportion of postoperative ABGs <20 dB (B-CWR, 41.3%; S-CWR, 30.7%; p = 0.42) between B-CWR and S-CWR. Further, there were no significant differences in complication rates between B-CWR and S-CWR other than increased minor TM perforations/retractions in B-CWR (63% vs. 40%, p = 0.03). CONCLUSIONS: Analysis of recidivism rates, audiometric outcomes and postoperative complications between B-CWR with MO versus S-CWR with MO revealed no significant difference. Both approaches are as effective in eradicating cholesteatoma while preserving relatively normal EAC anatomy and hearing. Surgeon preference and technical skill level may guide the surgeon's choice in approach.


Assuntos
Colesteatoma da Orelha Média , Processo Mastoide , Mastoidectomia , Humanos , Masculino , Feminino , Estudos Retrospectivos , Pessoa de Meia-Idade , Colesteatoma da Orelha Média/cirurgia , Adulto , Processo Mastoide/cirurgia , Mastoidectomia/métodos , Resultado do Tratamento , Timpanoplastia/métodos , Complicações Pós-Operatórias/epidemiologia , Procedimentos de Cirurgia Plástica/métodos , Idoso , Meato Acústico Externo/cirurgia , Adulto Jovem , Audiometria de Tons Puros , Recidiva
5.
Gynecol Oncol ; 183: 47-52, 2024 Mar 18.
Artigo em Inglês | MEDLINE | ID: mdl-38503141

RESUMO

INTRODUCTION: Gynecologic and breast cancers share several risk factors. Breast cancer risk assessment tools can identify those at elevated risk and allow for enhanced breast surveillance and chemoprevention, however such tools are underutilized. We aim to evaluate the use of routine breast cancer risk assessment in a gynecologic oncology clinic. METHODS: A patient-facing web-based tool was used to collect personal and family history and run four validated breast cancer risk assessment models (Tyrer-Cuzick (TC), Gail, BRCAPRO, and Claus) in a gynecologic oncology clinic. We evaluated completion of the tools and identification of patients at elevated risk for breast cancer using the four validated models. RESULTS: A total of 99 patients were included in this analysis. The BRCAPRO model had the highest completion rate (84.8%), followed by the TC model (74.7%), Gail model (74.7%), and the Claus model (52.1%). The TC model identified 21.6% of patients completing the model as having ≥20% lifetime risk of breast cancer, compared to 6.8% by the Gail model, and 0% for both the BRCAPRO and Claus models. The Gail model identified 52.5% of patients as having ≥1.67% 5-year risk of breast cancer. Among patients identified as high-risk for breast cancer and eligible for screening, 9/9 (100%) were referred to a high-risk breast clinic. CONCLUSION: Among patients that completed the TC breast cancer risk assessment in a gynecologic oncology clinic, approximately 1 in 5 were identified to be at significantly elevated lifetime risk for breast cancer. The gynecologic oncologist's office might offer a convenient and feasible setting to incorporate this risk assessment into routine patient care, as gynecologic oncologists often have long-term patient relationships and participate in survivorship care.

6.
Gynecol Oncol ; 183: 1-6, 2024 Mar 08.
Artigo em Inglês | MEDLINE | ID: mdl-38460222

RESUMO

BACKGROUND: Patients with a personal or family history of cancer may have elevated risk of developing future cancers, which often remains unrecognized due to lapses in screening. This pilot study assessed the usability and clinical outcomes of a cancer risk stratification tool in a gynecologic oncology clinic. METHODS: New gynecologic oncology patients were prompted to complete a commercially developed personal and family history-based risk stratification tool to assess eligibility for genetic testing using National Comprehensive Cancer Network criteria and estimated lifetime breast cancer risk using the Tyrer-Cuzick model. After use of the risk stratification tool, usability was assessed via completion rate and the System Usability Scale, and health literacy was assessed using the BRIEF Health Literacy Screening Tool. RESULTS: 130 patients were prompted to complete the risk stratification tool; 93 (72%) completed the tool. Race and ethnicity and insurance type were not associated with tool completion. The median System Usability Scale score was 83 out of 100 (interquartile range, 60-95). Health literacy positively correlated with perceived usability. Public insurance and race or ethnicity other than non-Hispanic White was associated with lower perceived usability. Sixty (65%) patients met eligibility criteria for genetic testing, and 21 (38% of 56 eligible patients) were candidates for enhanced breast cancer screening based on an estimated lifetime breast cancer risk of ≥20%. CONCLUSIONS: A majority of patients completed the digital cancer risk stratification tool. Older age, lower health literacy, public insurance, and race or ethnicity other than non-Hispanic White were associated with lower perceived tool usability.

9.
Genet Med ; 26(1): 100980, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37688462

RESUMO

PURPOSE: Genetic counseling (GC) is standard of care in genetic cancer risk assessment (GCRA). A rigorous assessment of the data reported from published studies is crucial to ensure the evidence-based implementation of GC. METHODS: We conducted a systematic review and meta-analysis of 17 patient-reported and health-services-related outcomes associated with pre- and post-test GC in GCRA in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines and Grading of Recommendations Assessment, Development and Evaluation (GRADE) methodology. RESULTS: Twenty-five of 5393 screened articles met inclusion criteria. No articles reporting post-test GC outcomes met inclusion criteria. For patient-reported outcomes, pre-test GC significantly decreased worry, increased knowledge, and decreased perceived risk but did not significantly affect patient anxiety, depression, decisional conflict, satisfaction, or intent to pursue genetic testing. For health-services outcomes, pre-test GC increased correct genetic test ordering, reduced inappropriate services, increased spousal support for genetic testing, and expedited care delivery but did not consistently improve cancer prevention behaviors nor lead to accurate risk assessment. The GRADE certainty in the evidence was very low or low. No included studies elucidated GC effect on mortality, cascade testing, cost-effectiveness, care coordination, shared decision making, or patient time burden. CONCLUSION: The true impact of GC on relevant outcomes is not known low quality or absent evidence. Although a meta-analysis found that pre-test GC had beneficial effects on knowledge, worry, and risk perception, the certainty of this evidence was low according to GRADE methodology. Further studies are needed to support the evidence-based application of GC in GCRA.


Assuntos
Aconselhamento Genético , Neoplasias , Humanos , Aconselhamento Genético/psicologia , Neoplasias/diagnóstico , Neoplasias/genética , Testes Genéticos
10.
J Vasc Surg ; 79(3): 609-622.e2, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37984756

RESUMO

OBJECTIVE: There is no consensus on the optimal anticoagulant regimen following lower extremity bypass. Historically, warfarin has been utilized for prosthetic or compromised vein bypasses. Direct-acting oral anticoagulants (DOACs) are increasingly replacing warfarin in this context, but their efficacy in bypass preservation has not been well-studied. Recent studies have shown that DOACs may improve outcomes following bypasses; however, it is unclear if this is dependent upon type of bypass conduit. The goal of this study was to evaluate whether a difference exists between vein and prosthetic infra-geniculate bypasses outcomes based on the anticoagulant utilized on discharge, warfarin or DOAC. METHODS: The Vascular Quality Initiative infra-inguinal bypass database was queried for all patients who underwent an infra-geniculate bypass and were anticoagulation-naive at baseline but were discharged on either warfarin or DOACs. A survival analysis was performed for patients up to 1 year to determine whether the choice of discharge anticoagulation was associated with differences between those with vein vs prosthetic conduits in overall survival, primary patency, risk of amputation, or risk of major adverse limb events (MALE). A multivariable Cox proportional hazards analysis was performed to control for differences in baseline demographic factors between the groups. RESULTS: During the study period (2003-2020), 57,887 patients underwent infra-geniculate bypass. Of these, 3230 (5.5%) were anticoagulated on discharge. There was a similar distribution of anticoagulation between vein (n = 1659; 51.4%) and prosthetic conduits (n = 1571; 48.6%). Thirty-two percent were discharged on DOACs, and 68.0% were discharged on warfarin. For prosthetic conduits, being discharged on a DOAC was associated with improved outcomes on univariate and multivariable analyses revealing lower risk of overall mortality (hazard ratio [HR], 0.61; 95% confidence interval [CI], 0.41-0.93; P = .021), loss of primary patency (HR, 0.70; 95% CI, 0.55-0.89; P = .003), risk of amputation (HR, 0.71; 95% CI, 0.54-0.93; P = .013), and risk of MALE (HR, 0.80; 95% CI, 0.64-1.00; P = .048). Patients with a vein bypass had improved univariate outcomes for survival and primary patency; however, with multivariable analysis, there were no significant differences in outcomes between DOAC and warfarin. CONCLUSIONS: Anticoagulation-naive patients who underwent an infra-geniculate prosthetic bypass had higher rates of overall survival, bypass patency, amputation-free survival, and freedom from MALE when discharged on a DOAC compared with warfarin. Those with vein bypasses had similar outcomes regardless of the choice of anticoagulation.


Assuntos
Implante de Prótese Vascular , Varfarina , Humanos , Varfarina/efeitos adversos , Alta do Paciente , Implante de Prótese Vascular/efeitos adversos , Resultado do Tratamento , Grau de Desobstrução Vascular , Fatores de Risco , Anticoagulantes/efeitos adversos , Prótese Vascular , Estudos Retrospectivos
11.
Hered Cancer Clin Pract ; 21(1): 24, 2023 Nov 17.
Artigo em Inglês | MEDLINE | ID: mdl-37978552

RESUMO

BACKGROUND: Lynch syndrome (LS) is the most common cause of inherited colorectal cancer (CRC). Universal tumor screening (UTS) of newly diagnosed CRC cases is recommended to aid in diagnosis of LS and reduce cancer-related morbidity and mortality. However, not all health systems have adopted UTS processes and implementation may be inconsistent due to system and patient-level complexities. METHODS: To identify barriers, facilitators, and suggestions for improvements of the UTS process from the patient perspective, we conducted in-depth, semi-structured interviews with patients recently diagnosed with CRC, but not screened for or aware of LS. Patients were recruited from eight regionally diverse US health systems. Interviews were conducted by telephone, 60-minutes, audio-recorded, and transcribed. An inductive, constant comparative analysis approach was employed.  RESULTS: We completed 75 interviews across the eight systems. Most participants were white (79%), about half (52%) were men, and the mean age was 60 years. Most self-reported either no (60%) or minimal (40%) prior awareness of LS. Overall, 96% of patients stated UTS should be a routine standard of care for CRC tumors, consistently citing four primary motivations for wanting to know their LS status and engage in the process for LS identification: "knowledge is power"; "family knowledge"; "prevention and detection"; and "treatment and surveillance." Common concerns pertaining to the process of screening for and identifying LS included: creating anticipatory worry for patients, the potential cost and the accuracy of the genetic test, and possibly having one's health insurance coverage impacted by the LS diagnosis. Patients suggested health systems communicate LS results in-person or by phone from a trained expert in LS; offer proactive verbal and written education about LS, the screening steps, and any follow-up surveillance recommendations; and support patients in communicating their LS screening to any of their blood relatives. CONCLUSION: Our qualitative findings demonstrate patients with CRC have a strong desire for healthcare systems to regularly implement and offer UTS. Patients offer key insights for health systems to guide future implementation and optimization of UTS and other LS screening programs and maximize diagnosis of individuals with LS and improve cancer-related surveillance and outcomes. TRIAL REGISTRATION: Not available: not a clinical trial.

12.
JCO Clin Cancer Inform ; 7: e2300123, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37934933

RESUMO

PURPOSE: Most individuals with a hereditary cancer syndrome are unaware of their genetic status to underutilization of hereditary cancer risk assessment. Chatbots, or programs that use artificial intelligence to simulate conversation, have emerged as a promising tool in health care and, more recently, as a potential tool for genetic cancer risk assessment and counseling. Here, we evaluated the existing literature on the use of chatbots in genetic cancer risk assessment and counseling. METHODS: A systematic review was conducted using key electronic databases to identify studies which use chatbots for genetic cancer risk assessment and counseling. Eligible studies were further subjected to meta-analysis. RESULTS: Seven studies met inclusion criteria, evaluating five distinct chatbots. Three studies evaluated a chatbot that could perform genetic cancer risk assessment, one study evaluated a chatbot that offered patient counseling, and three studies included both functions. The pooled estimated completion rate for the genetic cancer risk assessment was 36.7% (95% CI, 14.8 to 65.9). Two studies included comprehensive patient characteristics, and none involved a comparison group. Chatbots varied as to the involvement of a health care provider in the process of risk assessment and counseling. CONCLUSION: Chatbots have been used to streamline genetic cancer risk assessment and counseling and hold promise for reducing barriers to genetic services. Data regarding user and nonuser characteristics are lacking, as are data regarding comparative effectiveness to usual care. Future research may consider the impact of chatbots on equitable access to genetic services.


Assuntos
Inteligência Artificial , Síndromes Neoplásicas Hereditárias , Humanos , Software , Aconselhamento , Medição de Risco
13.
Int J Mol Sci ; 24(17)2023 Aug 23.
Artigo em Inglês | MEDLINE | ID: mdl-37685927

RESUMO

Ex vivo lung perfusion (EVLP) has increased donor lung utilization through assessment of "marginal" lungs prior to transplantation. To develop it as a donor lung reconditioning platform, prolonged EVLP is necessary, and new perfusates are required to provide sufficient nutritional support. Human pulmonary microvascular endothelial cells and epithelial cells were used to test different formulas for basic cellular function. A selected formula was further tested on an EVLP cell culture model, and cell confluence, apoptosis, and GSH and HSP70 levels were measured. When a cell culture medium (DMEM) was mixed with a current EVLP perfusate-Steen solution, DMEM enhanced cell confluence and migration and reduced apoptosis in a dose-dependent manner. A new EVLP perfusate was designed and tested based on DMEM. The final formula contains 5 g/L Dextran-40 and 7% albumin and is named as D05D7A solution. It inhibited cold static storage and warm reperfusion-induced cell apoptosis, improved cell confluence, and enhanced GSH and HSP70 levels in human lung cells compared to Steen solution. DMEM-based nutrient-rich EVLP perfusate could be a promising formula to prolong EVLP and support donor lung repair, reconditioning and further improve donor lung quality and quantity for transplantation with better clinical outcome.


Assuntos
Técnicas de Cultura de Células , Células Endoteliais , Humanos , Proteínas de Choque Térmico HSP70 , Nutrientes , Reperfusão , Pulmão
14.
PLoS One ; 18(9): e0284434, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37729309

RESUMO

In multinational trials that have run in India, we wished to determine whether there was too much (60% or higher) recruitment from India. We downloaded all trial records from Clinical Trials Registry-India, CTRI, and stored them in a local SQLite database. We queried records registered in a recent 8-year period, ie 2013-2020 and evaluated the fraction of local participants in interventional Phase 2 or Phase 3 studies. 62 trials were completed, with completion dates available. Five trials (8%) had 60% or more planned recruitment from India. Four of the five (7% of 62) had a foreign sponsor, and therefore there was an unfair burden-benefit ratio on the Indian population. Seven trials (11%), of which six (10% of 62) had foreign sponsors, had 60% or more (of the total) actual recruitment from India, and for two trials (both with foreign sponsors), the data were meaningless. There were 362 studies that were listed as not completed, although, given their start date and estimated duration, some of them ought to have been. Twenty five cases (7% of 362) had 60% or more planned recruitment from India. Of these, 18 (5% of 362) had foreign sponsors and were potentially problematic. Even allowing for some delays in completion, 128 (35% of 362) studies ought to have been completed by the time of our study. As such, we identified several problematic trials for which the planned recruitment from India in multinational studies was 60% or more. We also identified trials in which the actual recruitment was significantly higher than the planned recruitment. Further, the records of several studies that were probably completed were not updated in CTRI in a timely manner. The Indian drug regulator needs to be particularly alert to the planned, or actual, over-recruitment of participants from India. Further, CTRI, alone or in collaboration with the regulator, needs to ensure that multinational trial records for the enrollment fields in particular are updated, in a timely manner.


Assuntos
Ensaios Clínicos como Assunto , Humanos , Estudos Transversais , Bases de Dados Factuais , Índia , Sistema de Registros
15.
Cardiovasc Intervent Radiol ; 46(9): 1203-1213, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37532945

RESUMO

PURPOSE: The purpose of the study was to investigate outcome after pediatric transjugular intrahepatic portosystemic shunt (TIPS) with respect to survival MATERIAL AND METHODS: After searching for studies on TIPS in children in Ovid, Medline, Embase, Scopus and Cochrane published between 2000 and 2022, individual patient data were retrieved from five retrospective cohorts. Overall survival (OS) and transplant-free survival (TFS) were calculated using Kaplan-Meier analysis and log-rank test and compared to the indication (ascites vs. variceal bleeding) as well as to the level of obstruction (pre-hepatic vs. hepatic vs. post-hepatic). Additionally, TIPS patency was analyzed. RESULTS: n = 135 pediatric patients were included in the final analysis. Indication for pediatric TIPS creation was heterogeneous among the included studies. TIPS patency decreased from 6 to 24 months, subsequent pediatric liver transplantation was performed in 22/135 (16.3%) of cases. The presence of ascites was related with poorer TFS (HR 2.3, p = 0.023), while variceal bleeding was not associated with impaired survival. Analysis of the level of obstruction (pre-hepatic, hepatic and post-hepatic) failed to prove significantly reduced OS for post-hepatic obstruction (HR 3.2, p = 0.092) and TFS (HR 1.3, p = 0.057). There was no difference in OS and TFS according to age at time of TIPS placement. CONCLUSIONS: The presence of ascites associates with impaired survival after TIPS in children, with no differences in survival according to the age of the child. Interventional shunt procedures can be considered feasible for all ages. LEVEL OF EVIDENCE: Level 2a.


Assuntos
Varizes Esofágicas e Gástricas , Encefalopatia Hepática , Hipertensão Portal , Derivação Portossistêmica Transjugular Intra-Hepática , Humanos , Criança , Hipertensão Portal/cirurgia , Hipertensão Portal/complicações , Derivação Portossistêmica Transjugular Intra-Hepática/métodos , Resultado do Tratamento , Estudos Retrospectivos , Ascite/complicações , Varizes Esofágicas e Gástricas/cirurgia , Varizes Esofágicas e Gástricas/complicações , Hemorragia Gastrointestinal/complicações , Cirrose Hepática/complicações
16.
Harefuah ; 162(7): 424-427, 2023 Aug.
Artigo em Hebraico | MEDLINE | ID: mdl-37561031

RESUMO

BACKGROUND: Cochlear implants are valuable in the auditory rehabilitation of patients with severe to profound hearing loss. However, there is limited data on the outcomes of cochlear implantation in patients with Meniere's disease (MD). OBJECTIVES: In this study, we aim to evaluate the auditory outcomes of cochlear implantation in patients with MD. METHODS: A retrospective case series of patients with MD and severe to profound sensorineural hearing loss (SNHL), who underwent cochlear implantation at a tertiary academic center between 2006-2017. Patient's clinical characteristics and audiometric data were reviewed. RESULTS: The study included 20 ears in 19 patients with MD who underwent cochlear implantation with available pre- and postoperative audiometric data. There were 10 males and 9 females with a mean age of 63 years and a mean follow-up duration of 70.8 months. Pre- and post-implant CNC word recognition scores were 18.31% and 66.89%, respectively (p<0.001). Pre- and post-implant AzBio and/or HINT sentence recognition scores were 12.25% and 68.28% in quiet, respectively (p<0.001), and 18.25% and 63.43% in noise, respectively (p<0.001). CONCLUSIONS: Cochlear implantation resulted in an improvement of word and sentence recognition scores in MD patients. These results support the role of cochlear implants in the auditory rehabilitation of MD. DISCUSSION: Dr. Samy received research support from Cochlear Corporation.


Assuntos
Implante Coclear , Implantes Cocleares , Doença de Meniere , Percepção da Fala , Masculino , Feminino , Humanos , Pessoa de Meia-Idade , Implante Coclear/métodos , Doença de Meniere/complicações , Doença de Meniere/cirurgia , Estudos Retrospectivos , Resultado do Tratamento
17.
Gynecol Oncol ; 177: 72-85, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37651980

RESUMO

OBJECTIVE: Approximately 20% of ovarian cancers are due to an underlying germline pathogenic variant. While pathogenic variants in several genes have been well-established in the development of hereditary ovarian cancer (e.g. BRCA1/2, RAD51C, RAD51D, BRIP1, mismatch repair genes), the role of partner and localizer of BRCA2 (PALB2) remains uncertain. We sought to utilize meta-analysis to evaluate the association between PALB2 germline pathogenic variants and ovarian cancer. METHODS: We conducted a systematic review and meta-analysis. We searched key electronic databases to identify studies evaluating multigene panel testing in people with ovarian cancer. Eligible trials were subjected to meta-analysis. RESULTS: Fifty-five studies met inclusion criteria, including 48,194 people with ovarian cancer and information available on germline PALB2 pathogenic variant status. Among people with ovarian cancer and available PALB2 sequencing data, 0.4% [95% CI 0.3-0.4] harbored a germline pathogenic variant in the PALB2 gene. The pooled odds ratio (OR) for carrying a PALB2 pathogenic variant among the ovarian cancer population of 20,474 individuals who underwent germline testing was 2.48 [95% CI 1.57-3.90] relative to 123,883 controls. CONCLUSIONS: Our meta-analysis demonstrates that the pooled OR for harboring a PALB2 germline pathogenic variant among people with ovarian cancer compared to the general population is 2.48 [95% CI 1.57-3.90]. Prospective studies evaluating the role of germline PALB2 pathogenic variants in the development of ovarian cancer are warranted.

18.
Luminescence ; 38(10): 1750-1757, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37464921

RESUMO

Samarium (Sm3+ )-doped glass has sparked a rising interest in demonstrating a noticeable emission in the range of 400-700, which is advantageous in solid-state lasers in the visible region, colour displays, undersea communication, and optical memory devices. This study reports the fabrication of Sm3+ -doped bismuth-germanium-borate glasses were established using a standard melt-quenching technique and inspection by absorption, steady-state luminescence, and transient studies. The typical peaks of Sm3+ ions were detected in the visible range under 403 nm excitation. A strong emission band was detected at 599 nm that resembles the 4 G5/2 →6 H7/2 transition of Sm3+ ions for BGBiNYSm0.5 glass. Furthermore, a reddish-orange (coral) luminescence at 646 nm that resembles the 4 G5/2 →6 H9/2 transition was also perceived. The stimulated emission cross-section of 4 G5/2 level for BGBiNYSm0.5 glass was 0.39 × 10-22  cm2 . Lifetime of the 4 G5/2 level was enhanced for the BGBiNYSm0.5 glass and decreased with an increase in active ion concentrations. The lifetime quenching of ions at the metastable state was because of energy transfer among Sm3+ ions by cross-relaxation channels. Commission Internationale de l'Éclairage (CIE) coordinates were evaluated from the emission spectra. Moreover, all the findings recommend these glass as light-emitting materials in the coral region at 599 nm for solid-state lighting applications.


Assuntos
Germânio , Samário , Bismuto , Boratos , Luminescência , Vidro , Íons
19.
J Clin Gastroenterol ; 57(9): 879-885, 2023 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-37428081

RESUMO

Percutaneous transhepatic cholangioscopy (PTCS) was initially described around the same time that peroral cholangioscopy (POSC) was developed. The cited utility attributed to PTCS is the ability to be utilized in the subset of patients with surgical proximal bowel anatomy, often precluding the use of traditional POSC. However, since first described, PTCS use has been limited due to a lack of physician awareness and a lack of procedure-specific equipment and supplies. With recent developments of PTSC-specific equipment, there has been an expansion in the possible interventions able to be performed during PTCS, resulting in a rapid increase in clinical use. This short review will serve as a comprehensive update of the previous and more recent novel interventions now able to be performed during PTCS.


Assuntos
Endoscopia do Sistema Digestório , Laparoscopia , Humanos , Endoscopia do Sistema Digestório/métodos
20.
Otol Neurotol ; 44(6): e428-e434, 2023 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-37315233

RESUMO

OBJECTIVE: To characterize the viability and volume of autologous free fat grafts over time, determine clinical/patient factors that may affect free fat graft survival and assess the clinical impact of free fat graft survival on patient outcomes in the translabyrinthine approach for lateral skull base tumor resection. STUDY DESIGN: Retrospective chart review. SETTING: Tertiary neurotologic referral center. PATIENTS: Forty-two adult patients who underwent translabyrinthine craniotomy for resection of a lateral skull base tumor with the mastoid defect filled by autologous abdominal fat graft and subsequently underwent more than one postoperative magnetic resonance imaging (MRI) scans of the brain. INTERVENTIONS: Mastoid obliteration with abdominal fat after craniotomy, postoperative MRI. MAIN OUTCOME MEASURES: Rate of fat graft volume loss, fraction retention of original fat graft volume, initial fat graft volume, time to steady-state fat graft retention, rate of postoperative cerebrospinal fluid (CSF) leak, and/or pseudomeningocele formation. RESULTS: Patients were followed postoperatively with MRI for a mean of 31.6 months with a mean of 3.2 postoperative MRIs per patient. Initial graft size was a mean of 18.7 cm3 with a steady-state fat graft retention of 35.5%. Steady-state graft retention (<5% loss per year) was achieved at a mean of 24.96 months postoperatively. No significant association was found in multivariate regression analysis of clinical factors impact on fat graft retention and CSF leak/pseudomeningocele formation. CONCLUSIONS: In the use of autologous abdominal free fat graft for filling mastoid defects after translabyrinthine craniotomy, there is a logarithmic decline in fat graft volume over time, reaching steady state in 2 years. Rates of CSF leak or pseudomeningocele formation were not significantly affected by initial volume of the fat graft, rate of fat graft resorption, nor the fraction of original fat graft volume at steady state. In addition, no analyzed clinical factors significantly influenced fat graft retention over time.


Assuntos
Neoplasias da Base do Crânio , Adulto , Humanos , Estudos Retrospectivos , Vazamento de Líquido Cefalorraquidiano , Encéfalo , Imageamento por Ressonância Magnética
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