Reliability of Magseed® marking before neoadjuvant systemic therapy with subsequent contrast-enhanced mammography in patients with non-palpable breast cancer lesions after treatment: the MAGMA study.

PURPOSE: To assess the reliability of excising residual breast cancer lesions after neoadjuvant systemic therapy (NAST) using a previously localized paramagnetic seed (Magseed®) and the subsequent use of contrast-enhanced spectral mammography (CESM) to evaluate response. METHODS: Observational, prospective, multicenter study including adult women (> 18 years) with invasive breast carcinoma undergoing NAST between January 2022 and February 2023 with non-palpable tumor lesions at surgery. Radiologists marked tumors with Magseed® during biopsy before NAST, and surgeons excised tumors guided by the Sentimag® magnetometer. CESMs were performed before and after NAST to evaluate tumor response (Response Evaluation Criteria for Solid Tumors [RECIST]). We considered intraoperative, surgical, and CESM-related variables and histological response. RESULTS: We analyzed 109 patients (median [IQR] age of 55.0 [46.0, 65.0] years). Magseed® was retrieved from breast tumors in all surgeries (100%; 95% CI 95.47-100.0%) with no displacement and was identified by radiology in 106 patients (97.24%), a median (IQR) of 176.5 (150.0, 216.3) days after marking. Most surgeries (94.49%) were conservative; they lasted a median (IQR) of 22.5 (14.75, 40.0) min (95% CI 23.59-30.11 min). Most dissected tumor margins (93.57%) were negative, and few patients (5.51%) needed reintervention. Magseed® was identified using CESM in all patients (100%); RECIST responses correlated with histopathological evaluations of dissected tumors using the Miller-Payne response grade (p < 0.0001) and residual lesion diameter (p < 0.0001). Also 69 patients (63.3%) answered a patient's satisfaction survey and 98.8% of them felt very satisfied with the entire procedure. CONCLUSION: Long-term marking of breast cancer lesions with Magseed® is a reliable and feasible method in patients undergoing NAST and may be used with subsequent CESM.

Prognostic value of the nodal yield in elective neck dissections in patients with head and neck carcinomas.

PURPOSE: The objective of this study is to assess the prognostic capacity of the nodal yield in elective neck dissections performed in patients with head and neck squamous cell carcinomas (HNSCC) without clinical or radiological evidence of regional involvement (cN0) at the time of diagnosis. METHODS: Retrospective study including 647 patients with HNSCC treated with an elective neck dissection. RESULTS: Patients with < 15 dissected nodes (n = 172, 26.6%) had a 5-year disease-specific survival of 64.9% (95% CI: 57.3-72.5%), while for patients with ≥ 15 dissected nodes (n = 475, 73.4%), it was of 81.9% (95% CI: 78.4-85.4%) (P = 0.0001). The nodal yield category had prognostic capacity on the disease-specific survival in patients with tumors located in the oral cavity (P = 0.001), the oropharynx (P = 0.023) and the hypopharynx (P = 0.034), while for patients with tumors located in the larynx, no significant differences appeared (P = 0.779). Differences in regional recurrence-free survival were also observed based on the nodal yield category in patients with extra-laryngeal tumors (5-year regional recurrence-free survival of 81.0% in patients with < 15 dissected nodes vs 89.0% in patients with ≥ 15 dissected nodes; P = 0.046). CONCLUSION: The nodal yield in elective neck dissections in patients without evidence of lymph node disease (cN0) had prognostic capacity depending on the location of the primary tumor. For tumors located in the larynx, the number of dissected nodes did not significantly influence the prognosis. For tumors located in the oral cavity, oropharynx or hypopharynx, patients with < 15 dissected nodes had a disease-specific mortality 2.9 times higher than patients with ≥ 15 dissected nodes.

Causes of long-term mortality in patients with head and neck squamous cell carcinomas.

PURPOSE: After treatment of a head and neck squamous cell carcinoma (HNSCC), patients with an adequate control of the tumor have a decreased overall survival when compared to age- and gender-matched controls in the general population. The aim of our study was to analyze the causes of long-term mortality in patients with HNSCC. METHODS: We carried out a retrospective study of 5122 patients with an index HNSCC treated at our center between 1985 and 2018. We analyzed the survival considering three causes of death: mortality associated with the HNSCC index tumor, mortality associated with a second or successive neoplasm, and mortality associated with a non-cancer cause. RESULTS: After the diagnosis of an HNSCC the most frequent cause of death is the head and neck tumor itself during the first 3.5 years of follow-up. Thereafter, mortality is more frequently associated with competing causes of death, such as second malignancies and non-cancer causes. Mortality associated with second and successive neoplasms was 2.3% per year, a percentage that was maintained constant throughout the follow-up. Likewise, mortality attributable to non-cancer causes was 1.6% per year, which also remained constant. There were differences in the mortality patterns according to the characteristics of the patients. CONCLUSION: There are differences in the mortality patterns of patients with HNSCC depending on their characteristics. Knowledge of these patterns can help in the design of guidelines to improve the follow-up protocols of this group of patients to optimize the clinical cost-effectiveness.

Peer Support Specialists and Service Users' Perspectives on Privacy, Confidentiality, and Security of Digital Mental Health.

As the digitalization of mental health systems progresses, the ethical and social debate on the use of these mental health technologies has seldom been explored among end-users. This article explores how service users (e.g., patients and users of mental health services) and peer support specialists understand and perceive issues of privacy, confidentiality, and security of digital mental health interventions. Semi-structured qualitative interviews were conducted among service users (n = 17) and peer support specialists (n = 15) from a convenience sample at an urban community mental health center in the United States. We identified technology ownership and use, lack of technology literacy including limited understanding of privacy, confidentiality, and security as the main barriers to engagement among service users. Peers demonstrated a high level of technology engagement, literacy of digital mental health tools, and a more comprehensive awareness of digital mental health ethics. We recommend peer support specialists as a potential resource to facilitate the ethical engagement of digital mental health interventions for service users. Finally, engaging potential end-users in the development cycle of digital mental health support platforms and increased privacy regulations may lead the field to a better understanding of effective uses of technology for people with mental health conditions. This study contributes to the ongoing debate of digital mental health ethics, data justice, and digital mental health by providing a first-hand experience of digital ethics from end-users' perspectives.

Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.

RATIONALE & OBJECTIVE: Alport syndrome is a common genetic kidney disease accounting for approximately 2% of patients receiving kidney replacement therapy (KRT). It is caused by pathogenic variants in the gene COL4A3, COL4A4, or COL4A5. The aim of this study was to evaluate the clinical and genetic spectrum of patients with autosomal dominant Alport syndrome (ADAS). STUDY DESIGN: Retrospective cohort study. SETTING & PARTICIPANTS: 82 families (252 patients) with ADAS were studied. Clinical, genetic, laboratory, and pathology data were collected. OBSERVATIONS: A pathogenic DNA variant in COL4A3 was identified in 107 patients (35 families), whereas 133 harbored a pathogenic variant in COL4A4 (43 families). Digenic/complex inheritance was observed in 12 patients. Overall, the median kidney survival was 67 (95% CI, 58-73) years, without significant differences across sex (P=0.8), causative genes (P=0.6), or type of variant (P=0.9). Microhematuria was the most common kidney manifestation (92.1%), and extrarenal features were rare. Findings on kidney biopsies ranged from normal to focal segmental glomerulosclerosis. The slope of estimated glomerular filtration rate change was-1.46 (-1.66 to-1.26) mL/min/1.73m2 per year for the overall group, with no significant differences between ADAS genes (P=0.2). LIMITATIONS: The relatively small size of this series from a single country, potentially limiting generalizability. CONCLUSIONS: Patients with ADAS have a wide spectrum of clinical presentations, ranging from asymptomatic to kidney failure, a pattern not clearly related to the causative gene or type of variant. The diversity of ADAS phenotypes contributes to its underdiagnosis in clinical practice.

Advanced Research Institute (ARI): An Effective Model for Career Development and Transition to Independence.

The vitality of geriatric mental health research requires an ongoing infusion of new investigators into the career pipeline. This report examines outcomes of the NIMH-funded, Advanced Research Institute (ARI) in Geriatric Mental Health, a national mentoring program supporting the transition of early career researchers to independent investigators. Outcome data for 119 ARI Scholars were obtained from the NIH Reporter database, CVs, and PubMed: 95.0% continue in research, 80.7% had obtained federal grants, and 45.4% had achieved an NIH R01. Among all NIMH mentored K awardees initially funded 2002-2014 (n=901), 60.4% (32/53) of ARI participants vs. 42.0% (356/848) of nonparticipants obtained an R01. Controlling for funding year, ARI participants were 1.9 times more likely to achieve R01 funding than nonparticipants. These data suggest that ARI has helped new generations of researchers to achieve independent funding, become scientific leaders, and conduct high impact research contributing to public health and patient care.

[The transition process from paediatric to adult services: A perspective from hospitalised adolescent sufferers of chronic diseases]. / El proceso de transición de servicios pediátricos a adultos: visión de adolescentes hospitalizados portadores de enfermedades crónicas.

INTRODUCTION: Chronic illnesses during adolescence are a big challenge for the patient, his or her family, and health care providers. The transition from paediatric health services to adult health services involves a programmed and planned transfer process of adolescent sufferers of chronic illnesses, in order to maintain a high quality of life and bio-psycho-social development. There is currently no transition model. The objective of the study is to understand the transition process from the perspective of hospitalised adolescents to collaborate towards the design of a model that meets the needs studied. PATIENTS AND METHOD: Semi-structured interviews with 13 adolescent sufferers of chronic illnesses, hospitalised in two healthcare centres in Santiago, Chile, in one analytical-relational study, supported by qualitative methodology. RESULTS: In the analysis, 5 major themes stand out: experience of living with the illness, the importance of the doctor-patient relationship, the concept of limited autonomy to the pharmacology, the absence of the transition process as such, and the identification of barriers and needs for an adequate transition. CONCLUSIONS: This study is new in Chile in that it explores the phenomenom of the transition of adolescents with chronic illnesses. It emphasises the need to reinforce the concept of self-care and autonomy from early stages of care, and the importance of early planning of a healthy transition process, in accordance to the detected needs of the adolescents themselves.

Risk of Femicide and Quality of Life Assessment of Women Victims of Intimate Partner Violence in Campinas, São Paulo, Brazil.

Background: Violence against women is a public priority issue for epidemiological and public health sciences. Severe consequences of violence affect the quality of life of women victims. The objective of this study was to quantify the impact in the quality of life of the strengthening group in women victims of intimate partner violence who attend a reference violence center in Campinas, São Paulo, Brazil. Method: Quasi-experimental before and after the study was designed. The danger assessment and WHOQOL-BREF scales were applied at admission, after 3 and 6 months. Descriptive and statistical analysis of the variables was carried out to verify the difference between the measurements in the quality of life domains. Results: Seventy-eight victims of intimate partner violence participated in the study. The most prevalent violence was psychological (96.2%), physical (79.5%), and moral (67.7%). Three months after participating in the strengthening group, there was an improvement in the 4 domains of quality of life, significantly in the psychological (p=0.032) and physical (p=0.006) domains. More than half of the participants were classified at the extreme level of risk of femicide (51.3%). The study was stopped early because of the restrictions of the COVID-19 pandemic. Conclusion: With the available data collected, the strengthening group proved to be a strategy that positively impacts the quality of life of women victims of intimate partner violence.

Connecting the disconnected: Leveraging an in-home team member for video visits for older adults.

BACKGROUND: Older adults are interested and able to complete video visits, but often require coaching and practice to succeed. Data show a widening digital divide between older and younger adults using video visits. We conducted a qualitative feasibility study to investigate these gaps via ethnographic methods, including a team member in older participants' homes. METHODS: This ethnographic feasibility study included a virtual medication reconciliation visit with a clinical pharmacist for Veterans aged 65 and older taking 5 or more medications. An in-home study team member joined the participant and recorded observations in structured fieldnotes derived from the Updated Consolidated Framework for Implementation Research and Age-Friendly Health Systems. Fieldnotes included behind-the-scenes facilitators, barriers, and solutions to challenges before and during the visits. We conducted a thematic analysis of these observations and matched themes to implementation solutions from the Expert Recommendations for Implementing Change. RESULTS: Twenty participants completed a video visit. Participants were 74 years old (range 68-80) taking 12 daily medications (range 7-24). Challenges occurred in half of the visits and took the in-home team member and/or pharmacist an average of 10 minutes to troubleshoot. Challenges included notable new findings, such as that half of the participants required technology assistance for challenges that would not have been able to be solved by the pharmacist virtually. Furthermore, although many participants had a device or had used video visits before, some did not have a single device with video, audio, Internet, and access to their email username and password. CONCLUSIONS: Clinicians may apply these evidence-based implementation solutions to their approach to video visits with older adults, including having a team member join the visit before the clinician, involving tech-savvy family members, ensuring the device works with the visit platform ahead of time, and creating a troubleshooting guide from our common challenges.

Caregiver Support Role in Occupational Therapy Video Telehealth: A Scoping Review.

Caregiver involvement may facilitate patient participation in occupational therapy (OT) video telehealth. However, little is known about the extent to which caregivers participate and what they do. This scoping review aims to, 1) describe the caregiver role supporting patient participation in OT video telehealth, and, 2) identify barriers and facilitators to caregiver involvement. Findings reveal caregiver involvement in a range of OT evaluation and intervention processes, with details on what caregivers did overall lacking. Barriers and facilitators are also described. This study underscores the need for clear and robust descriptions of caregiver participation to increase best practices in video telehealth.

Influence of SARS-CoV-2 mRNA Vaccine Booster among Cancer Patients on Active Treatment Previously Immunized with Inactivated versus mRNA Vaccines: A Prospective Cohort Study.

Cancer patients on chemotherapy have a lower immune response to SARS-CoV-2 vaccines. Therefore, through a prospective cohort study of patients with solid tumors receiving chemotherapy, we aimed to determine the immunogenicity of an mRNA vaccine booster (BNT162b2) among patients previously immunized with an inactivated (CoronaVac) or homologous (BNT162b2) SARS-CoV-2 vaccine. The primary outcome was the proportion of patients with anti-SARS-CoV-2 neutralizing antibody (NAb) seropositivity at 8-12 weeks post-booster. The secondary end points included IgG antibody (TAb) seropositivity and specific T-cell responses. A total of 109 patients were included. Eighty-four (77%) had heterologous vaccine schedules (two doses of CoronaVac followed by the BNT162b2 booster) and twenty-five had (23%) homologous vaccine schedules (three doses of BNT162b2). IgG antibody positivity for the homologous and heterologous regimen were 100% and 96% (p = 0.338), whereas NAb positivity reached 100% and 92% (p = 0.13), respectively. Absolute NAb positivity and Tab levels were associated with the homologous schedule (with a beta coefficient of 0.26 with p = 0.027 and a geometric mean ratio 1.41 with p = 0.044, respectively). Both the homologous and heterologous vaccine regimens elicited a strong humoral and cellular response after the BNT162b2 booster. The homologous regimen was associated with higher NAb positivity and Tab levels after adjusting for relevant covariates.

Grisi Siknis: A cultural idiom of gender-based violence and structural inequalities in eastern Nicaragua.

For the Miskitu of Nicaragua, Grisi Siknis is a contagious illness that predominantly affects women. It is characterized by numerous psychosomatic symptoms, including headache, fear, aggressive behavior, loss of consciousness, and periods of rapid frenzy. Although Grisi Siknis has gained academic and public attention due to its unique cultural elements and perceived sexual aspects, little is known how the contextual and gender dimensions of Grisi Siknis are played out in relation to the socio-political context in the region. Based on 16 months of ethnographic work in the Nicaraguan Miskitu Coast, including semi-structured interviews (n = 20) and participant observation, this article documents a semantic shift in the embodied and symbolic language of a cultural idiom of distress. I show how duhindu (Miskitu spirit associated with illness and misfortune) and witchcraft are symbols that share cultural resonance in the Miskitu community, while gender violence discourse is a new language incorporated into the logic of this cultural idiom of distress. I argue that this semantic shift allows the individuals in this study to communicate local experiences of complex forms of structural inequalities (migration status, unemployment, ethnic identity) and gender-based violence that tend to be normalized as a ubiquitous cultural problem while preserving the broader socio-cultural meaning the Grisi Siknis represents. The ethnographic accounts of Grisi Siknis provide empirical data to unpack the unexplored contextual processes and local discourses that transform the meaning and logic of cultural idioms of distress at the individual level of experience.

Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness.

Background: Congenital deafness could be the first manifestation of a syndrome such as in Usher, Pendred, and Wolfram syndromes. Therefore, a genetic study is crucial in this deficiency to significantly improve its diagnostic efficiency, to predict the prognosis, to select the most adequate treatment required, and to anticipate the development of other associated clinical manifestations. Case presentation: We describe a young girl with bilateral congenital profound deafness, who initially received a single cochlear implant. The genetic study of her DNA using a custom-designed next-generation sequencing (NGS) panel detected a de novo pathogenic heterozygous variant in the WFS1 gene related to Wolfram-like syndrome, which is characterized by the presence of other symptoms such as optic atrophy. Due to this diagnosis, a second implant was placed after the optic atrophy onset. The speech audiometric results obtained with both implants indicate that this work successfully allows the patient to develop normal speech. Deterioration of the auditory nerves has not been observed. Conclusion: The next-generation sequencing technique allows a precise molecular diagnosis of diseases with high genetic heterogeneity, such as hereditary deafness, while this was the only symptom presented by the patient at the time of analysis. The NGS panel, in which genes responsible for both syndromic and non-syndromic hereditary deafness were included, was essential to reach the diagnosis in such a young patient. Early detection of the pathogenic variant in the WFS1 gene allowed us to anticipate the natural evolution of the disease and offer the most appropriate management to the patient.

The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease.

Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants of the GLA gene. Heterozygous female patients may show much more variability in clinical manifestations, ranging from asymptomatic to full-blown disease. Because of this heterogeneous clinical picture in women, the diagnosis of FD has typically been delayed for more than a decade, and the optimal time to initiate treatment remains controversial. Case Presentation. Here, we present two unrelated female patients diagnosed with FD harbouring the same pathogenic GLA variant. We discuss the implications of initiating specific therapy at different stages of the disease, with and without organ involvement (early versus late therapeutic intervention). Conclusions: These clinical cases suggest that initiating specific treatment at an earlier age in women with FD may prevent organ involvement and associated clinical events.

Stakeholders' Perspectives on Partnering to Inform the Software Development Lifecycle of Smartphone Applications for People with Serious Mental Illness: Enhancing the Software Development Lifecycle Through Stakeholder Engagement.

Serious mental illness (SMI) is a leading disability worldwide. Partnering with people with SMI to co-produce smartphone apps to support mental health outcomes throughout the software development lifecycle may support patient engagement with smartphone health app interventions. Partnering with this community is often challenging and requires a highly specialized community engagement training and skillset. The purpose of this study was to identify stakeholders' perspectives on partnering to inform the software development lifecycle of a smartphone health app intervention for people with SMI. We conducted thirty-five semi-structured qualitative interviews with 20 mental health patients and 15 peer support specialists. We identified six themes: (1) co-produce health app intervention content; (2) selection of app technology features; (3) integration of human factors in digital health apps; (4) consideration of personalized patient preferences in digital health apps; (5) identify unrecognized concerns early in the software development lifecycle; and (6) inclusion of real-world social, cognitive, and environmental contexts. Integration of these considerations may elucidate the partnering process to facilitate engagement among vulnerable populations that commonly disengage from mental health smartphone apps use such as people with SMI.

The aspartate aminotransaminase/alanine aminotransaminase (De Ritis) ratio predicts sensitivity to radiotherapy in head and neck carcinoma patients.

BACKGROUND: The aim of this study is to evaluate the relationship between the aspartate aminotransaminase (AST) and alanine aminotransaminase (ALT) ratio and local disease control in patients with head and neck squamous cell carcinomas (HNSCC) treated with radiotherapy/chemoradiotherapy. METHODS: We calculated the pre-treatment AST/ALT ratio in 670 patients with HNSCC treated with radiotherapy (n = 309, 46.1%) or chemoradiotherapy (n = 361, 53.9%). RESULTS: Five-year local recurrence-free survival for patients with a low AST/ALT ratio value (n = 529, 79.0%) was 75.0% (95% CI: 71.1-78.9), and for patients with a high value (n = 141, 21.0%) it was 53.4% (CI 95: 44.4-62.4) (p = 0.0001). In a multivariable analysis, patients with a high ratio had nearly twice the risk of having a local tumor recurrence (HR 1.97, 95% CI 1.42-2.75, p = 0.0001). CONCLUSION: The AST/ALT ratio was independently associated with the risk of local recurrence in patients with HNSCC treated with radiotherapy or chemoradiotherapy.

Peer and Non-Peer Academic Scientists and Peer Support Specialist Community of Practice: Stakeholder Engagement to Advance the Science of Peer Support.

Community of Practice, a community-engagement method that encourages a group of people to interact regularly towards a common goal, may promote satisfying experiences in patient-outcomes research among marginalized populations. Peer support specialists are increasingly being involved in peer-informed mental health research due to their lived experiences of mental illness and are an asset in co-designing healthcare programs along with researchers. In 2015, ten scientists and ten mental health service users joined as a Community of Practice that trained to engage in patient-centered outcomes research. The group has so far has presented at 20 conferences, published three book chapters and 30 peer-reviewed publications, and developed two smartphone applications. Of note are the co-production of a smartphone application, a digital peer support certification program, an app decision support tool, and an instrument to assess the value of patient-research partnerships. Future research will assess the feasibility of incorporating more stakeholders to enhance research outcomes.

The relationship between hopelessness and risk factors for early mortality in people with a lived experience of a serious mental illness.

The purpose of this study was to explore the relationships between self-reported hopelessness and risk factors for premature mortality in people with serious mental illness (SMI). Data were extracted from the 2014 Health Center Patient Survey (N = 5,592). Having a diagnosis of SMI was significantly associated with self-reported hopelessness. Hypertension or high blood pressure, congestive heart failure, and chronic obstructive pulmonary disorder were significantly associated with self-reported hopelessness. Higher levels of hopelessness were found to be significantly associated with increased alcohol consumption. Hopelessness may be an important dimension of health in people with SMI.