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Rationale & Objective: Dialysis comes with a substantial treatment burden, so patients must select care plans that align with their preferences. We aimed to deepen the understanding of decisional regret with dialysis choices. Study Design: This study had a mixed-methods explanatory sequential design. Setting & Participants: All patients from a single academic medical center prescribed maintenance in-center hemodialysis or presenting for home hemodialysis or peritoneal dialysis check-up during 3 weeks were approached for survey. A total of 78 patients agreed to participate. Patients with the highest (15 patients) and lowest decisional regret (20 patients) were invited to semistructured interviews. Predictors: Decisional regret scale and illness intrusiveness scale were used in this study. Analytical Approach: Quantitatively, we examined correlations between the decision regret scale and illness intrusiveness scale and sorted patients into the highest and lowest decision regret scale quartiles for further interviews; then, we compared patient characteristics between those that consented to interview in high and low decisional regret. Qualitatively, we used an adapted grounded theory approach to examine differences between interviewed patients with high and low decisional regret. Results: Of patients invited to participate in the interviews, 21 patients (8 high regret, 13 low regret) agreed. We observed that patients with high decisional regret displayed resignation toward dialysis, disruption of their sense of self and social roles, and self-blame, whereas patients with low decisional regret demonstrated positivity, integration of dialysis into their identity, and self-compassion. Limitations: Patients with the highest levels of decisional regret may have already withdrawn from dialysis. Patients could complete interviews in any location (eg, home, dialysis unit, and clinical office), which may have influenced patient disclosure. Conclusions: Although all patients experienced disruption after dialysis initiation, patients' approach to adversity differs between patients experiencing high versus low regret. This study identifies emotional responses to dialysis that may be modifiable through patient-support interventions.
As part of a quality improvement initiative in our dialysis practice, a patient stated, "I wish I never started dialysis." This quote served as the catalyst for embarking on a research project with the aim to understand why patients living with end-stage kidney disease have regret about starting and continuing dialysis, a lifesaving but time-intensive measure. We surveyed and interviewed patients on the topic and learned that patients experiencing regret had a disrupted sense of self and blamed themselves for their need of dialysis. Patients with little to no regret demonstrated positivity and self-compassion. These findings will help health care professionals as they work with patients considering dialysis or having newly started dialysis.
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Imaging of the temporal bone and middle ear is challenging for radiologists due to the abundance of distinct anatomical structures and the plethora of possible pathologies. The basis for a precise diagnosis is knowledge of the underlying anatomy as well as the clinical presentation and the individual patient's otological status. In this article, we aimed to summarize the most common inflammatory lesions of the temporal bone and middle ear, describe their specific imaging characteristics, and highlight their differential diagnoses. First, we introduce anatomical and imaging fundamentals. Additionally, a point-to-point comparison of the radiological and histological features of the wide spectrum of inflammatory diseases of the temporal bone and middle ear in context with a review of the current literature and current trends is given.
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Otopatias , Humanos , Otopatias/diagnóstico por imagem , Otopatias/patologia , Tomografia Computadorizada por Raios X/métodos , Orelha Média/diagnóstico por imagem , Osso Temporal/diagnóstico por imagem , Osso Temporal/patologiaRESUMO
BACKGROUND: The anti-coronavirus disease 2019 (COVID-19) vaccines are of paramount importance in the fight against the COVID-19 pandemic. Both viral vector- and nucleic acid-based vaccines are known to effectively induce protection against the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus by generating high antibody titers and effective T-cell responses to the spike protein they encode. Although these vaccines are being applied worldwide and have been extensively investigated, the immunomorphological events at the vaccination site with respect to SARS-CoV-2 spike protein expression have not yet been described. METHODS: We had the opportunity to examine the deltoid muscles of three men who died shortly after vaccination for unrelated reasons. We examined the vaccination sites histologically and immunohistochemically with various antibodies. Furthermore we incubated two different cell lines with one vaccine and examined the expression of the spike protein. RESULTS: The vaccination sites show a dense lymphohistiocytic interstitial infiltrate which surrounds the small vessels and extends into the perimysium. The spike protein is expressed by histiocytic cells with a dendritic shape that are CD68-positive and CD207-negative, fibrocytes, and very rare S100-positive cells. Interestingly, the skeletal muscle, being constitutively human leukocyte antigen (HLA)-A,B,C-negative, is induced at different levels in each specimen. In a cell culture experiment, we confirmed the ability of fibroblasts and interdigitating dendritic sarcoma cells to express spike protein in vitro after incubation with the Comirnaty vaccine. CONCLUSIONS: Histiocytic cells and fibrocytes are the heralds of spike protein synthesis at the vaccination site. The underlying cause of this apparent cell specifity is unknown. This needs to be investigated in future experiments, for example in an animal model.
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COVID-19 , Glicoproteína da Espícula de Coronavírus , Animais , Masculino , Humanos , Pandemias , COVID-19/prevenção & controle , SARS-CoV-2 , Vacinação , Vacinas contra COVID-19 , InflamaçãoRESUMO
Due to the increasing use of cross-sectional imaging techniques and new technical possibilities, the number of incidentally detected cystic lesions of the pancreas is rapidly increasing in everyday radiological routines. Precise and rapid classification, including targeted therapeutic considerations, is of essential importance. The new European guideline should also support this. This review article provides information on the spectrum of cystic pancreatic lesions, their appearance, and a comparison of morphologic and histologic characteristics. This is done in the context of current literature and clinical value. The recommendations of the European guidelines include statements on conservative management as well as relative and absolute indications for surgery in cystic lesions of the pancreas. The guidelines suggest surgical resection for mucinous cystic neoplasm (MCN) ≥ 40 mm; furthermore, for symptomatic MCN or imaging signs of malignancy, this is recommended independent of its size (grade IB recommendation). For main duct IPMNs (intraductal papillary mucinous neoplasms), surgical therapy is always recommended; for branch duct IPMNs, a number of different risk criteria are applicable to evaluate absolute or relative indications for surgery. Based on imaging characteristics of the most common cystic pancreatic lesions, a precise diagnostic classification of the tumor, as well as guidance for further treatment, is possible through radiology.
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A 55-year-old man was treated with combined immunochemotherapy (pembrolizumab, carboplatin and pemetrexed) because of non-small cell lung cancer (NSCLC). In addition, the patient had a medical history of chronic hepatitis B/D virus infection and cystic echinococosis. The viral hepatitis co-infection was treated with pegylated interferon (IFN)-alpha and tenofovir in the past (non-response after treatment), followed by maintenance therapy with tenofovir. Since the echinococosis was inactive, there was no need for specific treatment. The therapy for NSCLC had to be stopped after three weeks due to rising liver enzymes. HDV-RNA could be detected as high as 107 GE/mL in the serum, HBV-DNA was not detected. A liver biopsy was performed. Histological analysis showed a chronic and partly active hepatitis, but its aetiology remained unclear. Because of the stable viral load after the first administration of pembrolizumab, an autoimmune-induced liver injury was suspected. Thus, a prednisolone-treatment was initiated. Yet, the liver enzyme levels did not decline, so bulevirtide (2 mg/d s.c.) was added to the ongoing antiviral treatment with tenofovir. This new treatment combination led to a restitution of the elevated enzymes; HDV-RNA was below detection limit. Finally, the therapy for NSCLC could be continued. The antiviral therapy could improve the patient´s prognosis significantly. To our knowledge, this is the first reported case of a pembrolizumab-induced exacerbation of hepatitis D and a successful management by application of bulevirtide in the context of cancer.
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Carcinoma Pulmonar de Células não Pequenas , Hepatite B Crônica , Hepatite D , Neoplasias Pulmonares , Masculino , Humanos , Pessoa de Meia-Idade , Carcinoma Pulmonar de Células não Pequenas/diagnóstico , Carcinoma Pulmonar de Células não Pequenas/tratamento farmacológico , Vírus Delta da Hepatite/genética , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/tratamento farmacológico , Antivirais/efeitos adversos , Tenofovir/efeitos adversos , Hepatite D/diagnóstico , Hepatite D/tratamento farmacológico , Interferon-alfa/efeitos adversos , Hepatite B Crônica/tratamento farmacológico , RNA/uso terapêuticoRESUMO
Orbital masses include a broad spectrum of benign and malignant entities. Often these masses are asymptomatic or show a slow growth rate, so that emergence of clinical symptoms is prolonged. In this context, cross-sectional imaging plays an elementary role in the characterization of these lesions. Aside from the characterization of the underlying entity, an evaluation of the involved compartments is possible by sufficient imaging, which also facilitates optimal treatment and surgery planning. The purpose of this review is to explore different benign and malignant orbital tumors and their typical appearance in imaging together with histopathologic findings.
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BACKGROUND: Prognostic information is key to shared decision-making, particularly in life-limiting illness like advanced chronic kidney disease (CKD). OBJECTIVE: To understand the prognostic information preferences expressed by older patients with CKD. DESIGN AND PARTICIPANTS: Qualitative study of 28 consecutively enrolled patients over 65 years of age with non-dialysis dependent CKD stages 3b-5, receiving care in a multi-disciplinary CKD clinic. APPROACH: Semi-structured telephone or in-person interviews to explore patients' preference for and perceived value of individualized prognostic information. Interviews were analyzed using inductive content analysis. KEY RESULTS: We completed interviews with 28 patients (77.7 ± SD 6.8 years, 69% men). Patients varied in their preference for prognostic information and more were interested in their risk of progression to end-stage kidney disease (ESKD) than in life expectancy. Many conflated ESKD risk with risk of death, perceiving a binary choice between dialysis and quick decline and death. Patients expressed that prognostic information would allow them to plan, take care of important business, and think about their treatment options. Patients were accepting of prognostic uncertainty and imagined leveraging it to nurture hope or motivate them to better manage risk factors. They endorsed the desire to receive prognosis of life expectancy even though it may be hard to accept or difficult to talk about but worried it could create helplessness for other patients in their situation. CONCLUSION: Most, but not all, patients were interested in prognostic information and could see its value in motivating behavior change and allowing planning. Some patients expressed concern that information on life expectancy might cause depression and hopelessness. Therefore, prognostic information is most appropriate as part of a clinical conversation that fosters shared decision-making and helps patients consider treatment risks, benefits, and burdens in context of their lives.
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Falência Renal Crônica , Insuficiência Renal Crônica , Tomada de Decisões , Feminino , Humanos , Falência Renal Crônica/terapia , Masculino , Prognóstico , Pesquisa Qualitativa , Diálise Renal , Insuficiência Renal Crônica/diagnóstico , Insuficiência Renal Crônica/terapiaRESUMO
As pharmacogenomic (PGx) testing increases in popularity, lay concepts of drug-gene interactions set the stage for shared decision making in precision medicine. Few studies explore what recipients of PGx results think is happening in their bodies when a drug-gene interaction is discovered. To characterize biobank participants' understanding of PGx research results, we conducted a focus group study, which took place after PGx variants conferring increased risk of dihydropyrimidine dehydrogenase (DPD) deficiency were disclosed to biobank contributors. DPD deficiency confers an increased risk of adverse reaction to commonly used cancer chemotherapeutics. Ten focus groups were conducted, ranging from two to eight participants. Fifty-four individuals participated in focus groups. A framework approach was used for descriptive and explanatory analysis. Descriptive themes included participants' efforts to make sense of PGx findings as they related to: (1) health implications, (2) drugs, and (3) genetics. Explanatory analysis supplied a functional framework of how participant word choices can perform different purposes in PGx communication. Results bear three main implications for PGx research-related disclosure. First, participants' use of various terms suggest participants generally understanding their PGx results, including how positive PGx results differ from positive disease susceptibility genetic results. Second, PGx disclosure in biobanking can involve participant conflation of drug-gene interactions with allergies or other types of medical reactions. Third, the functional framework suggests a need to move beyond a deficit model of genetic literacy in PGx communication. Together, findings provide an initial evidence base for supporting bidirectional expert-recipient PGx results communication.
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Bancos de Espécimes Biológicos , Farmacogenética , Comunicação , Humanos , Farmacogenética/métodos , Medicina de Precisão/métodosRESUMO
BACKGROUND: Approximately 750,000 people in the U.S. live with end-stage kidney disease (ESKD); the majority receive dialysis. Despite the importance of adherence to dialysis, it remains suboptimal, and one contributor may be patients' insufficient capacity to cope with their treatment and illness burden. However, it is unclear what, if any, differences exist between patients reporting high versus low treatment and illness burden. METHODS: We sought to understand these differences using a mixed methods, explanatory sequential design. We enrolled adult patients receiving dialysis, including in-center hemodialysis, home hemodialysis, and peritoneal dialysis. Descriptive patient characteristics were collected. Participants' treatment and illness burden was measured using the Illness Intrusiveness Scale (IIS). Participants scoring in the highest quartile were defined as having high burden, and participants scoring in the lowest quartile as having low burden. Participants in both quartiles were invited to participate in interviews and observations. RESULTS: Quantitatively, participants in the high burden group were significantly younger (mean = 48.4 years vs. 68.6 years respectively, p = <0.001). No other quantitative differences were observed. Qualitatively, we found differences in patient self-management practices, such as the high burden group having difficulty establishing a new rhythm of life to cope with dialysis, greater disruption in social roles and self-perception, fewer appraisal focused coping strategies, more difficulty maintaining social networks, and more negatively portrayed experiences early in their dialysis journey. CONCLUSIONS AND RELEVANCE: Patients on dialysis reporting the greatest illness and treatment burden have difficulties that their low-burden counterparts do not report, which may be amenable to intervention.
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Efeitos Psicossociais da Doença , Diálise Renal , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Rede Social , Apoio Social , ViagemRESUMO
The COVID-19 pandemic has resulted in significant morbidity and mortality worldwide. To prevent severe infection, mass COVID-19 vaccination campaigns with several vaccine types are currently underway. We report pathological and immunological findings in 8 patients who developed vaccine-induced immune thrombotic thrombocytopenia (VITT) after administration of SARS-CoV-2 vaccine ChAdOx1 nCoV-19. We analyzed patient material using enzyme immune assays, flow cytometry and heparin-induced platelet aggregation assay and performed autopsies on two fatal cases. Eight patients (5 female, 3 male) with a median age of 41.5 years (range, 24 to 53) were referred to us with suspected thrombotic complications 6 to 20 days after ChAdOx1 nCoV-19 vaccination. All patients had thrombocytopenia at admission. Patients had a median platelet count of 46.5 x109/L (range, 8 to 92). Three had a fatal outcome and 5 were successfully treated. Autopsies showed arterial and venous thromboses in various organs and the occlusion of glomerular capillaries by hyaline thrombi. Sera from VITT patients contain high titer antibodies against platelet factor 4 (PF4) (OD 2.59±0.64). PF4 antibodies in VITT patients induced significant increase in procoagulant markers (P-selectin and phosphatidylserine externalization) compared to healthy volunteers and healthy vaccinated volunteers. The generation of procoagulant platelets was PF4 and heparin dependent. We demonstrate the contribution of antibody-mediated platelet activation in the pathogenesis of VITT.
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COVID-19 , Trombocitopenia , Adulto , Autoanticorpos , Plaquetas , Vacinas contra COVID-19 , ChAdOx1 nCoV-19 , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pandemias , SARS-CoV-2 , Trombocitopenia/induzido quimicamente , Vacinação/efeitos adversos , Adulto JovemRESUMO
As genomic sequencing expands to screen larger numbers of individuals, offering genetic counseling to everyone may not be possible. One approach to managing this limitation is for a genetic counselor to communicate clinically actionable results in person or by telephone, but report other results by mail. We employed this approach in a large genomic implementation study. In this paper, we describe participants' experiences receiving genomic screening results by mail. We conducted 50 semi-structured telephone interviews with individuals who received neutral genomic screening results by mail. Most participants were satisfied receiving neutral results by mail. Participants generally had a good understanding of results; however, a few participants had misunderstandings about their genomic screening results, including mistaken beliefs about their disease risk and the comprehensiveness of the test. No one reported plans to alter health behaviors, defer medical evaluations, or take other actions that might be considered medically problematic. Reporting neutral results by mail is unlikely to cause recipients distress or generate misunderstandings that may result in reduced vigilance in following recommended preventive health strategies. Nonetheless, some individuals may benefit from additional genetic counseling support to help situate their results in the context of personal concerns and illness experiences.
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INTRODUCTION: Minority communities have had limited access to advances in genomic medicine. Mayo Clinic and Mountain Park Health Center, a Federally Qualified Health Center in Phoenix, Arizona, partnered to assess the feasibility of offering genomic screening to Latino patients receiving care at a community-based health center. We examined primary care provider (PCP) experiences reporting genomic screening results and integrating those results into patient care. METHODS: We conducted open-ended, semi-structured interviews with PCPs and other members of the health care team charged with supporting patients who received positive genomic screening results. Interviews were recorded, transcribed, and analyzed thematically. RESULTS: Of the 500 patients who pursued genomic screening, 10 received results indicating a genetic variant that warranted clinical management. PCPs felt genomic screening was valuable to patients and their families, and that genomic research should strive to include underrepresented minorities. Providers identified multiple challenges integrating genomic sequencing into patient care, including difficulties maintaining patient contact over time; arranging follow-up medical care; and managing results in an environment with limited genetics expertise. Providers also reflected on the ethics of offering genomic sequencing to patients who may not be able to pursue diagnostic testing or follow-up care due to financial constraints. CONCLUSIONS: Our results highlight the potential benefits and challenges of bringing advances in precision medicine to community-based health centers serving under-resourced populations. By proactively considering patient support needs, and identifying financial assistance programs and patient-referral mechanisms to support patients who may need specialized medical care, PCPs and other health care providers can help to ensure that precision medicine lives up to its full potential as a tool for improving patient care.
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Centros Comunitários de Saúde , Atenção Primária à Saúde , Genômica , Hispânico ou Latino , Humanos , Equipe de Assistência ao PacienteRESUMO
PURPOSE: The aim of the study was to characterize experiences of Latino participants receiving genomic screening results. METHODS: Participants were recruited at a federally qualified health center in the USA. In-person, semi-structured interviews were conducted in either Spanish or English by a bilingual, bicultural interviewer. Questions focused on motivations for pursuing genomic sequencing, concerns about receiving genomic screening results, and perceived benefits of receiving genomic information. Interviews were audio-recorded, transcribed, and translated. RESULTS: Fifty individuals completed an interview; 39 were conducted in Spanish. Participants described mixed motivations for pursuing genomic screening. Participants viewed the benefits of genomic screening in relation to not only their personal health but to the health of their families and their communities. Participants tended to have few concerns about genomic screening. Those concerns related to potential loss of privacy, misuses of genomic information, and the possibility of receiving distressing results. Some participants had misunderstandings about the scope of the test and the potential implications of their results. Most felt it was better to know about a genetic predisposition to disease than to remain uninformed. Participants felt that genomic screening was worthwhile. DISCUSSION: This is one of the first studies to examine the experiences of Latino individuals receiving genomic screening results. Our results suggest that many Latino patients in the US see value in genomic screening and have limited concerns about its potential to cause harm. These results inform ongoing efforts to increase the availability of genomic medicine to underrepresented populations and add to our understanding of sociocultural drivers in the adoption of precision medicine.
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BACKGROUND: Alveolar echinococcosis (AE) is caused by metacestode larva of the tapeworm Echinococcus multilocularis. AE diagnostics currently rely on imaging techniques supported by serology, but unequivocal detection of AE is difficult. Although polymerase chain reaction (PCR)-based methods to detect tapeworm DNA in biopsies have been suggested for several species, no validated protocol adhering to accepted guidelines has so far been presented for AE diagnostics. We herein established a PCR protocol for metacestode biopsies and technically evaluated the method using isolated parasite DNA and cells, biopsies of clinically relevant material, and formalin fixed paraffin-embedded (FFPE) human tissue blocks. We compared the results with an immunochemical (IHC) approach using the monoclonal antibody Em2G11 specific for the antigen Em2 of E. mulitlocularis. METHODOLOGY/PRINCIPAL FINDINGS: Based on tapeworm 12S rDNA sequences we established and validated a PCR protocol for robust detection of as little as 50 parasite cells per specimen and report 127 cases of positive identification of Echinococcus species in samples from humans and animals. For further validation, we analyzed 45 liver, heart, brain, and soft tissue samples as well as cytological probes of aspirates of FFPE-material from 18 patients with clinically confirmed AE. Of each patient we analyzed (i) fully viable lesions with laminated layer; (ii) tissue with mAbEm2G11-positive small particles of E. multilocularis (spems); (iii) mAbEm2G11-negative tissue adjacent to the main lesion; and (iv) lymph node tissue with mAbEm2G11-positive spems. To identify the areas for the PCR-based approach, we performed IHC-staining with the monoclonal antibody Em2G11. Micro-dissected tissue of these areas was then used for PCR-analysis. 9 of 15 analyzed samples with viable E. multilocularis lesions with laminated layer were positive by PCR. Of this group, all samples preserved for less than 6 years (6/6) were tested positive. 11 of 15 samples of spems and 7 of 9 samples of the control group mAbEm2G11-negative tissue were negative by PCR. We further show that all probes from lymph nodes with spems are PCR negative. CONCLUSIONS/SIGNIFICANCE: We present a sensitive PCR method for the detection of E. multilocularis in human tissue, particularly in fresh biopsy material and tissue blocks stored for less than 5 years. While the diagnostic sensitivity of material containing only spems was higher using IHC, PCR detection was possible in IHC negative liver tissue and in patients with negative serology. Our results support the view that spems do not contain parasitic DNA or viable cells of the parasite. spems thus most probably do not directly contribute to metastasis formation during AE.
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Equinococose/diagnóstico , Equinococose/microbiologia , Echinococcus multilocularis/isolamento & purificação , Reação em Cadeia da Polimerase/métodos , Animais , Anticorpos Monoclonais/imunologia , Sequência de Bases , Testes Diagnósticos de Rotina , Equinococose/patologia , Echinococcus multilocularis/genética , Células Hep G2 , Humanos , Fígado/patologia , Linfonodos/parasitologia , Pessoa de Meia-IdadeRESUMO
OBJECTIVES: The goals of this study were to explore 1) the impact of returning unexpected pharmacogenomic (PGx) results to biobank contributors, and 2) participant views about improving communication. METHODS: We conducted a qualitative focus group study with biobank participants (N = 54) who were notified by mail of an individual research result indicating increased risk for adverse events associated with the common cancer drug 5-fluorouracil (5-FU). We employed a framework approach for analysis. RESULTS: Our results revealed three themes illustrating participants' questions and uncertainty, especially regarding how to share results with health providers and family members, and remember them over time. Participants valued results for themselves and others, and for the future of medicine. Risk perception was framed by health identity. "Toxicity narratives," or familiarity with another's adverse reaction to chemotherapy, increased the sense of importance participants reported. CONCLUSION: These focus group results highlight research participant remaining questions and high valuation of PGx results, even when unexpected. PRACTICE IMPLICATIONS: We identify PGx research participants' needs for clear clinical translation messaging that attends to health identity, pragmatics of sharing information with family members, and patient perceptions of barriers to transferring research results to a clinical context.
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Bancos de Espécimes Biológicos , Farmacogenética , Comunicação , Família , Grupos Focais , HumanosRESUMO
BACKGROUND: Alveolar (AE) and cystic echinococcosis (CE) in humans are caused by the metacestode of the tapeworms Echinococcus multilocularis and Echinococcus granulosus sensu lato (s.l.). Immunohistochemistry with the monoclonal antibodies (mAb) Em2G11, specific for AE, and the mAb EmG3, specific for AE and CE, is an important pillar of the histological diagnosis of these two infections. Our aim was to further evaluate mAb EmG3 in a diagnostic setting and to analyze in detail the localization, distribution, and impact of small particles of Echinococcus multilocularis (spems) and small particles of Echinococcus granulosus s.l. (spegs) on lymph nodes. METHODOLOGY/PRINCIPAL FINDINGS: We evaluated the mAb EmG3 in a cohort of formalin-fixed, paraffin embedded (FFPE) specimens of AE (n = 360) and CE (n = 178). These samples originated from 156 AE-patients and 77 CE-patients. mAb EmG3 showed a specific staining of the metacestode stadium of E. multilocularis and E. granulosus s.l. and had a higher sensitivity for spems than mAb Em2G11. Furthermore, we detected spegs in the surrounding host tissue and in almost all tested lymph nodes (39/41) of infected patients. 38/47 lymph nodes of AE showed a positive reaction for spems with mAb EmG3, whereas 29/47 tested positive when stained with mAb Em2G11. Spegs were detected in the germinal centers, co-located with CD23-positive follicular dendritic cells, and were present in the sinuses. Likewise, lymph nodes with spems and spegs in AE and CE were significantly enlarged in size in comparison to the control group. CONCLUSIONS/SIGNIFICANCE: mAb EmG3 is specific for AE and CE and is a valuable tool in the histological diagnosis of echinococcosis. Based on the observed staining patterns, we hypothesize that the interaction between parasite and host is not restricted to the main lesion since spegs are detected in lymph nodes. Moreover, in AE the number of spems-affected lymph nodes is higher than previously assumed. The enlargement of lymph nodes with spems and spegs points to an immunological interaction with the small immunogenic particles (spems and spegs) of Echinococcus spp.
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Equinococose Hepática/diagnóstico , Equinococose/diagnóstico , Echinococcus granulosus/imunologia , Echinococcus multilocularis/imunologia , Linfadenopatia/parasitologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Animais , Anticorpos Monoclonais/imunologia , Criança , Testes Diagnósticos de Rotina , Equinococose/parasitologia , Equinococose/patologia , Equinococose Hepática/parasitologia , Equinococose Hepática/patologia , Feminino , Humanos , Imuno-Histoquímica/métodos , Linfonodos/parasitologia , Linfonodos/patologia , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
As applications of genomic sequencing have expanded, offering genetic counseling support to all patients is arguably no longer practical. Additionally, whether individuals desire and value genetic counseling services for genomic screening is unclear. We offered elective genetic counseling to 5110 individuals prior to undergoing sequencing and 2310 participants who received neutral results to assess demand. A total of 0.2% of the study participants accessed genetic counseling services prior to sequencing, and 0.3% reached out after receiving neutral results. We later conducted 50 interviews with participants to understand why they did not access these services. Many interviewees did not recall the availability of genetic counseling and were unfamiliar with the profession. Interviewees described not needing counseling before sequencing because they understood the study and felt that they could cope with any result. Counseling was considered equally unnecessary after learning neutral results. Although the participants had questions about their results, they did not feel that speaking with a genetic counselor would be helpful. Genomic screening efforts that employ opt-in models of genetic counseling may need to clarify the potential value of genetic counseling support from the outset and feature genetic counseling services more prominently in program materials.
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Alveolar echinococcosis (AE) is caused by the intermediate stage of Echinococcus multilocularis. We aimed to correlate computed tomography (CT) data with histology to identify distinct characteristics for different lesion types. We classified 45 samples into five types with the Echinococcus multilocularis Ulm Classification for Computed Tomography (EMUC-CT). The various CT lesions exhibited significantly different histological parameters, which led us to propose a progression model. The initial lesion fit the CT type IV classification, which comprises a single necrotic area with the central located laminated layer, a larger distance between laminated layer and border zone, a small fibrotic peripheral zone, and few small particles of Echinococcus multilocularis (spems). Lesions could progress through CT types I, II, and III, characterized by shorter distances between laminated layer and border zone, more spems inside and surrounding the lesion, and a pronounced fibrotic rim (mostly in type III). Alternatively, lesions could converge to a highly calcified, regressive state (type V). Our results suggest that the CT types mark sequential stages of the infection, which progress over time. These distinct histological patterns advance the understanding of interactions between AE and human host; moreover, they might become prognostically and therapeutically relevant.