Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 3.151
Filtrar
Mais filtros











Intervalo de ano de publicação
1.
J Obstet Gynaecol Can ; 46(8): 102578, 2024 Jun 08.
Artigo em Inglês | MEDLINE | ID: mdl-38852809

RESUMO

OBJECTIVES: The Healthy Recovery after Childbirth Clinic (HRCC) in Nova Scotia provides postpartum care to patients who experience obstetric anal sphincter injuries (OASIS). The purpose of this study was to describe characteristics associated with HRCC attendance, characteristics associated with a trial of labour in a subsequent delivery, and OASIS recurrence by HRCC attendance status. METHODS: A retrospective cohort study using the Atlee Perinatal Database and clinical record review included primiparous individuals who sustained an OASIS at IWK Health in Halifax between 2013 and 2020. The χ2 and Fisher exact tests were performed to compare groups. RESULTS: Of the 1041 individuals included, 67% attended HRCC. Attendance increased from 58% in 2013-2015 to 77% in 2019-2020. Younger age (<25 years) and smoking were associated with lower HRCC attendance (P = 0.07 and <0.01, respectively). Other characteristics, including area-level income and driving distance to HRCC, were not associated with attendance (P > 0.05). Of the 439 individuals who had a subsequent delivery, 92% had a trial of labour. Individuals with fourth-degree injury were less likely to attempt a trial of labour than those with third-degree injury (73% vs. 94%, P < 0.01). Of those who delivered vaginally, OASIS recurrence was similar in those who did and did not attend the HRCC (7.5% vs. 6.5%, P = 0.84). CONCLUSIONS: HRCC attendance was high, but the disparity by age and smoking status suggests some barriers to access that should be explored. Although we found no difference in OASIS recurrence by HRCC attendance, more research with larger samples with adjustment for confounders is needed.

2.
Adv Ther ; 41(6): 2486-2499, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38642198

RESUMO

INTRODUCTION: Efgartigimod and ravulizumab, both approved for treating acetylcholine receptor auto-antibody-positive (AChR-Ab+) generalized myasthenia gravis (gMG), have not been directly compared. This paper assessed comparative effects of efgartigimod vs. ravulizumab for treating adults with AChR-Ab+ gMG using indirect treatment comparison methods. METHODS: The matching-adjusted indirect comparison used data from two randomized trials of adult men and women. The ADAPT (efgartigimod vs. placebo; individual patient data available) population was reweighted to match the CHAMPION (ravulizumab vs. placebo; index study; aggregate data available) population. The relative effect of efgartigimod versus placebo was estimated in this reweighted population and compared with the observed ravulizumab versus placebo effect to estimate the efgartigimod versus ravulizumab effect. The outcomes were Myasthenia Gravis Activities of Daily Living (MG-ADL), Quantitative Myasthenia Gravis (QMG), and Myasthenia Gravis Quality of Life 15-item-revised scale (MG-QoL15r) assessed as cumulative effect (area under the curve; AUC) over 26 weeks (primary) and change from baseline at 4 weeks and time of best response (week 4 for efgartigimod; week 26 for ravulizumab). RESULTS: For MG-QoL15r, efgartigimod had a statistically significant improvement compared with ravulizumab over 26 weeks [mean difference (95% confidence interval): - 52.6 (- 103.0, - 2.3)], at week 4 [- 4.0 (- 6.6, - 1.4)], and at time of best response [- 3.9 (- 6.5, - 1.3)]. Efgartigimod had a statistically significant improvement over ravulizumab in MG-ADL at week 4 [- 1.9 (- 3.3, - 0.5)] and at time of best response [- 1.4 (- 2.8, 0.0)] and in QMG at week 4 [- 3.2 (- 5.2, - 1.2)] and at time of best response [- 3.0 (- 5.0, - 1.0)]. For AUC over 26 weeks, improvements were not significantly different between efgartigimod and ravulizumab for MG-ADL [- 8.7 (- 36.1, 18.8)] and QMG [- 13.7 (- 50.3, 22.9)]. CONCLUSION: Efgartigimod may provide a faster and greater improvement over 26 weeks in quality of life than ravulizumab in adults with AChR-Ab+ gMG. Efgartigimod showed faster improvements in MG-ADL and QMG than ravulizumab.


Assuntos
Anticorpos Monoclonais Humanizados , Miastenia Gravis , Receptores Colinérgicos , Humanos , Miastenia Gravis/tratamento farmacológico , Masculino , Feminino , Anticorpos Monoclonais Humanizados/uso terapêutico , Pessoa de Meia-Idade , Receptores Colinérgicos/imunologia , Adulto , Autoanticorpos , Resultado do Tratamento , Idoso , Atividades Cotidianas , Qualidade de Vida
3.
Int J Cardiol ; 405: 131931, 2024 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-38432608

RESUMO

BACKGROUND: Emergency coronary artery bypass surgery (eCABG) is a serious complication of chronic total occlusion (CTO) percutaneous coronary artery intervention (PCI). METHODS: We examined the incidence and outcomes eCABG among 14,512 CTO PCIs performed between 2012 and 2023 in a large multicenter registry. RESULTS: The incidence of eCABG was 0.12% (n = 17). Mean age was 68 ± 6 years and 69% of the patients were men. The most common reason for eCABG was coronary perforation (70.6%). eCABG patients had larger target vessel diameter (3.36 ± 0.50 vs. 2.90 ± 0.52; p = 0.003), were more likely to have moderate/severe calcification (85.7% vs. 45.8%; p = 0.006), side branch at the proximal cap (91.7% vs. 55.4%; p = 0.025), and balloon undilatable lesions (50% vs. 7.4%; p = 0.001) and to have undergone retrograde crossing (64.7% vs. 30.8%, p = 0.006). eCABG cases had lower technical (35.3% vs. 86.7%; p < 0.001) and procedural (35.3% vs. 86.7%; p < 0.001) success and higher in-hospital mortality (35.3% vs. 0.4%; p < 0.001), coronary perforation (70.6% vs. 4.6%; p < 0.001), pericardiocentesis (47.1% vs. 0.8%; p < 0.001), and major bleeding (11.8% vs. 0.5%; p < 0.001). CONCLUSIONS: The incidence of eCABG after CTO PCI was 0.12% and associated with high in-hospital mortality (35%). Coronary perforation was the most common reason for eCABG.


Assuntos
Ponte de Artéria Coronária , Oclusão Coronária , Intervenção Coronária Percutânea , Sistema de Registros , Humanos , Masculino , Oclusão Coronária/cirurgia , Oclusão Coronária/epidemiologia , Idoso , Intervenção Coronária Percutânea/efeitos adversos , Intervenção Coronária Percutânea/métodos , Intervenção Coronária Percutânea/tendências , Feminino , Ponte de Artéria Coronária/efeitos adversos , Ponte de Artéria Coronária/tendências , Pessoa de Meia-Idade , Doença Crônica , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Incidência , Mortalidade Hospitalar/tendências , Resultado do Tratamento , Emergências
4.
Cancer Med ; 13(2): e6976, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38379327

RESUMO

BACKGROUND: International bodies recommend that melanoma risk assessment should be integrated into skin cancer care provision, but evidence to support implementation is lacking. AIM: To explore the acceptability and feasibility of implementing personalised melanoma risk assessment and tailored patient education and skin surveillance within routine clinical care. METHODS: This prospective qualitative implementation study was informed by the Theoretical Framework of Acceptability (TFA). Personalised, systematic melanoma risk assessment was implemented in the dermatology clinic at the Melanoma Institute Australia, Sydney, Australia February-May 2021. Pre- and post-implementation observations and semi-structured interviews with patients and staff were conducted (September 2020-March 2021). Observational notes and interview transcript data were analysed thematically using the TFA as a classifying framework. RESULTS: A total of 37 h of observations were made, and 29 patients and 12 clinic staff were interviewed. We found that the delivery of personalised melanoma risk estimates did not impact on patient flow through the clinic. Dermatologists reported that the personalised risk information enhanced their confidence in assessing patient risk and recommending tailored surveillance schedules. Most patients reported that the risk assessment and tailored information were a beneficial addition to their care. Among patients whose risk deviated from their expectations, some reported feeling worried, confused or mistrust in the risk information, including those at lower risk who were recommended to decrease surveillance frequency. CONCLUSIONS: It is feasible and acceptable to patients and clinic staff to calculate and deliver personalised melanoma risk information and tailored surveillance as part of routine clinical care within dermatology clinics.


Assuntos
Dermatologia , Melanoma , Neoplasias Cutâneas , Humanos , Melanoma/diagnóstico , Melanoma/epidemiologia , Estudos de Viabilidade , Estudos Prospectivos , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/epidemiologia , Medição de Risco
5.
JAMA Neurol ; 80(12): 1334-1343, 2023 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-37870862

RESUMO

Importance: Cryptogenic sensory peripheral neuropathy (CSPN) is highly prevalent and often disabling due to neuropathic pain. Metabolic syndrome and its components increase neuropathy risk. Diet and exercise have shown promise but are limited by poor adherence. Objective: To determine whether topiramate can slow decline in intraepidermal nerve fiber density (IENFD) and/or neuropathy-specific quality of life measured using the Norfolk Quality of Life-Diabetic Neuropathy (NQOL-DN) scale. Design, Setting, and Participants: Topiramate as a Disease-Modifying Therapy for CSPN (TopCSPN) was a double-blind, placebo-controlled, randomized clinical trial conducted between February 2018 and October 2021. TopCSPN was performed at 20 sites in the National Institutes of Health-funded Network for Excellence in Neurosciences Clinical Trials (NeuroNEXT). Individuals with CSPN and metabolic syndrome aged 18 to 80 years were screened and randomly assigned by body mass index (<30 vs ≥30), which is calculated as weight in kilograms divided by height in meters squared. Patients were excluded if they had poorly controlled diabetes, prior topiramate treatment, recurrent nephrolithiasis, type 1 diabetes, use of insulin within 3 months before screening, history of foot ulceration, planned bariatric surgery, history of alcohol or drug overuse in the 2 years before screening, family history of a hereditary neuropathy, or an alternative neuropathy cause. Interventions: Participants received topiramate or matched placebo titrated to a maximum-tolerated dose of 100 mg per day. Main Outcomes and Measures: IENFD and NQOL-DN score were co-primary outcome measures. A positive study was defined as efficacy in both or efficacy in one and noninferiority in the other. Results: A total of 211 individuals were screened, and 132 were randomly assigned to treatment groups: 66 in the topiramate group and 66 in the placebo group. Age and sex were similar between groups (topiramate: mean [SD] age, 61 (10) years; 38 male [58%]; placebo: mean [SD] age, 62 (11) years; 44 male [67%]). The difference in change in IENFD and NQOL-DN score was noninferior but not superior in the intention-to-treat (ITT) analysis (IENFD, 0.21 fibers/mm per year; 95% CI, -0.43 to ∞ fibers/mm per year and NQOL-DN score, -1.52 points per year; 95% CI, -∞ to 1.19 points per year). A per-protocol analysis excluding noncompliant participants based on serum topiramate levels and those with major protocol deviations demonstrated superiority in NQOL-DN score (-3.69 points per year; 95% CI, -∞ to -0.73 points per year). Patients treated with topiramate had a mean (SD) annual change in IENFD of 0.56 fibers/mm per year relative to placebo (95% CI, -0.21 to ∞ fibers/mm per year). Although IENFD was stable in the topiramate group compared with a decline consistent with expected natural history, this difference did not demonstrate superiority. Conclusion and Relevance: Topiramate did not slow IENFD decline or affect NQOL-DN score in the primary ITT analysis. Some participants were intolerant of topiramate. NQOL-DN score was superior among those compliant based on serum levels and without major protocol deviations. Trial Registration: ClinicalTrials.gov Identifier: NCT02878798.


Assuntos
Neuropatias Diabéticas , Síndrome Metabólica , Neuralgia , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neuropatias Diabéticas/tratamento farmacológico , Método Duplo-Cego , Síndrome Metabólica/complicações , Síndrome Metabólica/tratamento farmacológico , Qualidade de Vida , Topiramato/efeitos adversos , Adolescente , Adulto Jovem , Adulto , Idoso de 80 Anos ou mais
6.
Artigo em Inglês | MEDLINE | ID: mdl-37638142

RESUMO

Background: Bronchiectasis is a chronic lung disorder that affects the lives of many South Africans. Post-tuberculosis (TB) bronchiectasis is an important complication of previous pulmonary TB and a common cause of bronchiectasis in South Africa (SA). No previous statements on the management of bronchiectasis in SA have been published. Objectives: To provide a position statement that will act as a template for the management of adult patients with bronchiectasis in SA. Methods: The South African Thoracic Society appointed an editorial committee to compile a position statement on the management of adult non-cystic fibrosis (CF) bronchiectasis in SA. Results: A position statement addressing the management of non-CF bronchiectasis in adults in SA was compiled. This position statement covers the epidemiology, aetiology, diagnosis, investigations and various aspects of management of adult patients with non-CF bronchiectasis in SA. Conclusion: Bronchiectasis has largely been a neglected lung condition, but new research has improved the outlook for patients. Collaboration between interprofessional team members in patient management is important. In SA, more research into the epidemiology of bronchiectasis, especially post-TB bronchiectasis and HIV-associated bronchiectasis, is required. Abstract: The South African Thoracic Society mandated a multidisciplinary team of healthcare providers to compile a position statement on the management of non-cystic fibrosis bronchiectasis in South Africa (SA). International guidelines on the management of bronchiectasis were reviewed and used as a basis from which the current position statement was compiled. This is the first position statement on the management of adult non-cystic fibrosis bronchiectasis in SA. A description of the epidemiology and aetiology of bronchiectasis is provided, as well as guidance on its diagnosis and management. The position statement provides guidance on the management of bronchiectasis to healthcare providers, policymakers and regulatory authorities.

7.
Clin Oncol (R Coll Radiol) ; 35(7): e434-e444, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-37149425

RESUMO

AIMS: Large blood volumes are irradiated when the heart is exposed to radiation. The mean heart dose (MHD) may be a good surrogate for circulating lymphocytes exposure. We investigated the association between MHD and radiation-induced lymphopenia and explored the impact of the end-of-radiation-therapy (EoRT) lymphocyte count on clinical outcomes. MATERIALS AND METHODS: In total, 915 patients were analysed: 303 patients with breast cancer and 612 with intrathoracic tumours: oesophageal cancer (291), non-small cell lung cancer (265) and small cell lung cancer (56). Heart contours were generated using an interactive deep learning delineation process and an individual dose volume histogram for each heart was obtained. A dose volume histogram for the body was extracted from the clinical systems. We compared different models analysing the effect of heart dosimetry on the EoRT lymphocyte count using multivariable linear regression and assessed goodness of fit. We published interactive nomograms for the best models. The association of the degree of EoRT lymphopenia with clinical outcomes (overall survival, cancer treatment failure and infection) was investigated. RESULTS: An increasing low dose bath to the body and MHD were associated with a low EoRT lymphocyte count. The best models for intrathoracic tumours included dosimetric parameters, age, gender, number of fractions, concomitant chemotherapy and pre-treatment lymphocyte count. Models for patients with breast cancer showed no improvement when adding dosimetric variables to the clinical predictors. EoRT lymphopenia grade ≥3 was associated with decreased survival and increased risk of infections among patients with intrathoracic tumours. CONCLUSION: Among patients with intrathoracic tumours, radiation exposure to the heart contributes to lymphopenia and low levels of peripheral lymphocytes after radiotherapy are associated with worse clinical outcomes.


Assuntos
Neoplasias da Mama , Carcinoma Pulmonar de Células não Pequenas , Neoplasias Pulmonares , Linfopenia , Humanos , Feminino , Carcinoma Pulmonar de Células não Pequenas/patologia , Neoplasias Pulmonares/patologia , Linfopenia/etiologia , Contagem de Linfócitos , Neoplasias da Mama/radioterapia , Neoplasias da Mama/complicações
8.
Ann R Coll Surg Engl ; 105(7): 607-613, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35950513

RESUMO

INTRODUCTION: Choledocholithiasis is common, with patients usually treated with endoscopic retrograde cholangiopancreatography (ERCP) and subsequent cholecystectomy to remove the presumed source of common bile duct (CBD) stones. However, previous investigations into the management of patients following ERCP have focused on recurrent CBD stones, negating the risks of cholecystectomy. This article appraises the role of cholecystectomy following successful endoscopic clearance of bile duct stones. METHODS: Patients undergoing ERCP and CBD clearance for choledocholithiasis at St James's University Hospital January 2015-December 2018 were included. Patients were divided into those who received cholecystectomy and those managed non-operatively. Readmissions, operative morbidity, mortality and treatment costs were investigated. RESULTS: Eight hundred and forty-four patients received ERCP and CBD clearance with 3.9 years follow-up. Two hundred and nine patients underwent cholecystectomy with 15% requiring complex surgery. Three hundred and seventy-three patients were non-operatively managed. Unplanned readmissions occurred in 15% following ERCP, mostly within two years. There was no difference in readmissions between the two groups. Accounting for the entire patient pathway, non-operative management was less expensive. CONCLUSIONS: The majority of patients do not require readmission following ERCP for CBD stones, and cholecystectomy did not reduce the risk of readmission. Few patients have recurrent CBD stones, but complex biliary surgery is frequently required. Routine cholecystectomy following ERCP needs to be re-evaluated and a more stratified approach to future risk developed.


Assuntos
Colecistectomia Laparoscópica , Coledocolitíase , Cálculos Biliares , Humanos , Esfinterotomia Endoscópica/efeitos adversos , Coledocolitíase/cirurgia , Cálculos Biliares/cirurgia , Colecistectomia/efeitos adversos
9.
Acad Radiol ; 30(7): 1472-1480, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-36323613

RESUMO

RATIONALE AND OBJECTIVES: To evaluate the effectiveness of an artificial intelligence (AI) in radiology literacy course on participants from nine radiology residency programs in the Southeast and Mid-Atlantic United States. MATERIALS AND METHODS: A week-long AI in radiology course was developed and included participants from nine radiology residency programs in the Southeast and Mid-Atlantic United States. Ten 30 minutes lectures utilizing a remote learning format covered basic AI terms and methods, clinical applications of AI in radiology by four different subspecialties, and special topics lectures on the economics of AI, ethics of AI, algorithm bias, and medicolegal implications of AI in medicine. A proctored hands-on clinical AI session allowed participants to directly use an FDA cleared AI-assisted viewer and reporting system for advanced cancer. Pre- and post-course electronic surveys were distributed to assess participants' knowledge of AI terminology and applications and interest in AI education. RESULTS: There were an average of 75 participants each day of the course (range: 50-120). Nearly all participants reported a lack of sufficient exposure to AI in their radiology training (96.7%, 90/93). Mean participant score on the pre-course AI knowledge evaluation was 8.3/15, with a statistically significant increase to 10.1/15 on the post-course evaluation (p= 0.04). A majority of participants reported an interest in continued AI in radiology education in the future (78.6%, 22/28). CONCLUSION: A multi-institutional AI in radiology literacy course successfully improved AI education of participants, with the majority of participants reporting a continued interest in AI in radiology education in the future.


Assuntos
Inteligência Artificial , Radiologia , Humanos , Alfabetização , Radiologia/educação , Algoritmos , Escolaridade
10.
Discov Oncol ; 13(1): 108, 2022 Oct 18.
Artigo em Inglês | MEDLINE | ID: mdl-36258057

RESUMO

PURPOSE: Metastatic spread of prostate cancer to the skeleton may result in debilitating bone pain. In this review, we address mechanisms underpinning the pathobiology of metastatic prostate cancer induced bone pain (PCIBP) that include sensitization and sprouting of primary afferent sensory nerve fibres in bone. We also review current treatments and pain responses evoked by various treatment modalities in clinical trials in this patient population. METHODS: We reviewed the literature using PubMed to identify research on the pathobiology of PCIBP. Additionally, we reviewed clinical trials of various treatment modalities in patients with PCIBP with pain response outcomes published in the past 7 years. RESULTS: Recent clinical trials show that radionuclides, given either alone or in combination with chemotherapy, evoked favourable pain responses in many patients and a single fraction of local external beam radiation therapy was as effective as multiple fractions. However, treatment with chemotherapy, small molecule inhibitors and/or immunotherapy agents, produced variable pain responses but pain response was the primary endpoint in only one of these trials. Additionally, there were no published trials of potentially novel analgesic agents in patients with PCIBP. CONCLUSION: There is a knowledge gap for clinical trials of chemotherapy, small molecule inhibitors and/or immunotherapy in patients with PCIBP where pain response is the primary endpoint. Also, there are no novel analgesic agents on the horizon for the relief of PCIBP and this is an area of large unmet medical need that warrants concerted research attention.

12.
Prev Med Rep ; 29: 101953, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36161107

RESUMO

Electronic nicotine delivery systems (ENDS) are the most used tobacco products among middle and high schoolers in the United States (U.S.). Familial relations and access play a major role in uptake among adolescents; yet the role of social media in this phenomenon in the context of communities impacted by tobacco-related health disparities is understudied. In Spring 2019, data were collected from adolescents in 8th and 9th grades in a school located in a rural distressed county in Tennessee to assess social media's role in ENDS uptake. Descriptive and multivariable statistical analyses were performed to delineate factors associated with ENDS use. Of a total of 399 respondents, 12.5 % reported current ENDS use and 22.1 % indicated having ever discussed ENDS on social media. Closed messaging platforms (Snapchat) and video platforms (Facebook/Instagram/You Tube) were the most reported form of social media used (8.31 % and 8.31 % respectively). Social media use was positively associated with both ever ENDS use (odds ratio [OR] = 2.9) and current ENDS use (OR = 3.98). Parental advice against ENDS use was positively associated with ever ENDS use. In conclusion, social media use was positively associated with both ever and current ENDS use, and Snapchat was the most popular platform among this population of students. The results indicate that youth social media engagement may lead to exposure that can influence ENDS uptake. Future studies are needed to further examine these associations among distressed communities.

13.
J Affect Disord ; 314: 160-167, 2022 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-35863541

RESUMO

BACKGROUND: Dementia and cognitive impairment can be attributed to genetic and modifiable factors. Considerable evidence emerged in modifiable factors and urgently requires standardized evaluation. We conducted an umbrella review to evaluate the strength and validity of the existing evidence. METHODS: We searched PubMed, Embase, CINAHL and Cochrane Database of Systematic Reviews to identify relevant systematic reviews and meta-analyses of prospective studies regarding the associations of dementia and cognitive impairment with modifiable factors. For each association, we analyzed the summary effect size, 95 % confidence interval, 95 % prediction interval, heterogeneity, small study effect and excess significance bias. Mendelian randomization studies were descriptively reviewed further exploring the causality of the associations. RESULTS: In total, 12,015 articles were identified, of which 118 eligible studies yielded 243 unique associations. Convincing evidence was found for associations of dementia and cognitive impairment with early-life education, midlife to late-life plasma glucose, BMI, atrial fibrillation, benzodiazepine use, and gait speed. Suggestive to highly suggestive evidence was found for that of midlife to late-life blood pressure, homocysteine, cerebrovascular diseases, hearing impairment, respiratory illness, anemia, smoking, alcohol consumption, diet, sleep, physical activity and social engagement. Among convincing evidence, Mendelian randomization studies verified causal relationships of education and plasma glucose with Alzheimer's disease. LIMITATIONS: Low quality of the studies included. CONCLUSIONS: Modifiable risk factors identified in this study, especially those with high-level evidence, should be considered in dementia prevention. Our results support a valuable rationale for future experimental designs to establish further evidence for the associations in larger populations.


Assuntos
Doença de Alzheimer , Disfunção Cognitiva , Doença de Alzheimer/epidemiologia , Doença de Alzheimer/etiologia , Glicemia , Disfunção Cognitiva/epidemiologia , Humanos , Estudos Prospectivos , Fatores de Risco , Revisões Sistemáticas como Assunto
14.
Immunohematology ; 38(2): 51-54, 2022 Jul 05.
Artigo em Inglês | MEDLINE | ID: mdl-35852066

RESUMO

The importance of identifying variant alleles among blood donors is significant to the safety of transfusion for recipients. Molecular methods have become more prominent in the routine process of antigen typing donor units. Some variant antigens cannot be detected using only serologic methods. Molecular testing allows the determination of nucleotide sequences that are used to predict a phenotype. Antigens of the Kell blood group system are known for being highly immunogenic and causing adverse reactions upon antibody formation. A female white blood donor who typed Kp(b-) using serologic methods on multiple donations since 2005 was the subject of a typing discrepancy investigation. Routine genotyping using a commercial genotyping kit (HemoID DQS Panel; Agena Bioscience, San Diego, CA) predicted the donor to type Kp(a+b+). Investigation of the discrepancy between these two results identified a rare single nucleotide variant in the KEL gene at nucleotide position c.948G>T that alters amino acid residue 316 from tryptophan (Trp) to cysteine (Cys). After discovery of the novel allele, adsorption and elution studies were performed to see if there was weakened Kpb expression. The elution studies yielded negative results, which indicated that Kpb is not expressed. The KEL transcripts expressed by the donor were determined using cDNA analysis, and the predicted amino acid sequence of the novel allele was modeled to investigate the impact of the amino acid sequence on the structure of the KEL polypeptide. Both SWISS-MODEL and Robetta software were used to evaluate the impact of the p.Trp316Cys on the three-dimensional protein structure. There was no conformational change noted with SWISS-MODEL, whereas the Robetta software showed a significant conformational change compared with the normal Kp(b+) reference sequence. Because the donor is homozygous for variants associated with k and Jsb expression, it was not possible to determine whether the novel allele is associated with loss of Kpb only or loss of all Kell antigens.


Assuntos
Doadores de Sangue , Sistema do Grupo Sanguíneo de Kell , Alelos , Feminino , Humanos , Sistema do Grupo Sanguíneo de Kell/genética , Sistema do Grupo Sanguíneo de Kell/metabolismo , Glicoproteínas de Membrana , Metaloendopeptidases/genética , Nucleotídeos , Fenótipo
16.
Trauma Case Rep ; 39: 100649, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35585888

RESUMO

Introduction: Penetrating cardiac injuries are emergencies that require prompt surgical management. Most of these injuries are caused by gunshots or stab wounds however the incidence of nail-gun injuries is rising due to their availability and widespread use. Cardiac injuries caused by nail-guns are often self-inflicted. These injuries almost always require operative management with a sternotomy or thoracotomy. Case report: This case report describes a 47-year-old male with two self-inflicted nail-gun wounds to the chest. He presented in a stable condition and subsequently underwent an emergency sternotomy to repair a penetrating cardiac injury. We highlight our diagnostic and operative approach to this injury and present a contemporary narrative review of similar cases. Conclusion: Almost all cases of penetrating trauma caused by nail-gun injuries require urgent surgery. Some cases require the use of cardiopulmonary bypass. In this case, the use of the Medtronic® urchin apical suction device, usually reserved for off pump cardiac surgery, facilitated exposure and repair of the lateral wall of the left ventricle.

17.
Gynecol Oncol ; 165(3): 546-551, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-35483985

RESUMO

OBJECTIVES: Patients with germline mutations in mismatch repair genes (MLH1, MSH2, MSH6, PMS2) associated with Lynch syndrome (LS) have an increased lifetime risk of endometrial cancer (EC). Multi-gene panel testing (MGPT) is a recent hereditary cancer risk tool enabling next-generation sequencing of numerous genes in parallel. We determined the prevalence of actionable cancer predisposition gene mutations identified through MGPT in an EC patient cohort. METHODS: A single center retrospective cohort study was conducted of patients with EC who had a clinical indication for genetic testing and who underwent MGPT as part of standard of care treatment between 2012 and 2021. Pathogenic mutations were identified and actionable mutations were defined as those with clinical management implications. Additionally, the number of individuals identified with LS was compared between MGPT and tumor-based screening. RESULTS: The study included a total of 224 patients. Thirty-three patients [14.7%, 95% confidence interval (CI) = 10.4-20.1] had actionable mutations. Twenty-one patients (9.4%, 95% CI = 5.9-14.0) had mutations in LS genes (4 MLH1, 5 MSH2, 7 MSH6, 4 PMS2, 1 Epcam-MSH2). MGPT revealed two patients with LS (9.5% of LS cases) not identified through routine tumor-based screening. Thirteen patients (5.8%, 95% CI = 3.1-9.7) had at least one actionable mutation in a non-Lynch syndrome gene (6 CHEK2, 2 BRCA2, 2 ATM, 2 APC, 1 RAD51C, 1 BRCA1). CONCLUSIONS: Germline MGPT is both feasible and informative as it identifies LS cases not found on tumor testing as well as additional actionable mutations in patients with EC.


Assuntos
Neoplasias Colorretais Hereditárias sem Polipose , Neoplasias do Endométrio , Biomarcadores Tumorais/genética , Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Neoplasias Colorretais Hereditárias sem Polipose/genética , Neoplasias Colorretais Hereditárias sem Polipose/patologia , Reparo de Erro de Pareamento de DNA/genética , Proteínas de Ligação a DNA/genética , Neoplasias do Endométrio/patologia , Feminino , Predisposição Genética para Doença , Testes Genéticos , Mutação em Linhagem Germinativa , Humanos , Endonuclease PMS2 de Reparo de Erro de Pareamento/genética , Proteína 2 Homóloga a MutS/genética , Estudos Retrospectivos
18.
Facts Views Vis Obgyn ; 14(1): 17-29, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35373544

RESUMO

Background: Advanced gynaecological procedures often include extensive pelvic dissections, with the nervous structures involved in the disease. Nerve-sparing and preservation is a key factor in reducing postoperative morbidity. Objectives: The goal of this review is to describe in detail the structure of the pelvic nerves and to gather information from other surgical specialties to give recommendations for safe nerve dissection applied in different gynaecological subspecialties. Materials and Methods: An extensive literature review was carried out in PubMed and Google Scholar. The search included articles concerning peripheral nerve anatomy, mechanisms of injury and different dissection techniques, with the most exhaustive being analysed for the review. Articles from different fields of medicine like orthopaedics, plastic surgery, maxillofacial surgery dealing with peripheral nerve injuries and repair have been reviewed. Results: The following review demonstrates the in-depth anatomy and mechanism of injury of the peripheral nerves, describes the different techniques for neurolysis and proposes some directions for safe nerve dissection. Conclusion: When performing complex gynaecological surgeries, the surgeon should avoid unnecessary nerve handling, apply nerve-sparing techniques whenever possible and use the new devices to preserve the nervous structures. Advanced gynaecological surgeries should be performed in specialised centres by expert surgeons with comprehensive knowledge in neuropelveology. What is new?: To our knowledge, this is the first article focused on peripheral nerves that collects data from such a wide range of specialties in order to propose the most comprehensive recommendations that could be applied in pelvic surgery.

20.
Ann R Coll Surg Engl ; 104(2): 32-34, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35100848

RESUMO

Splenogonadal fusion is a rare benign congenital anomaly in which there is an abnormal connection between the gonad and the spleen. It was first described over 100 years ago with limited reports in the literature since then. Its similarity in presentation to testicular neoplasia poses a significant challenge in diagnosis and management, often resulting in radical orchidectomy. We present the case of a 31-year-old man who presented with a rapidly growing left-sided testicular mass and suspicious ultrasound findings; histology from the subsequent radical inguinal orchidectomy showed findings consistent with splenogonadal fusion. We describe points for consideration in the clinical history, examination and imaging that could suggest splenogonadal fusion, including preoperative technetium-99m-sulfur colloid imaging and intraoperative frozen section evaluation, which may confirm the diagnosis and prevent unnecessary orchidectomy.


Assuntos
Baço/anormalidades , Testículo/anormalidades , Adulto , Humanos , Masculino , Orquiectomia , Baço/diagnóstico por imagem , Testículo/diagnóstico por imagem , Testículo/cirurgia , Tomografia Computadorizada por Raios X , Ultrassonografia , Procedimentos Desnecessários
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA