Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree.

BACKGROUND: Most patients suffering from Leber hereditary optic neuropathy carry one of the three classic pathologic mutations, but not all individuals with these genetic alterations develop the disease. There are different risk factors that modify the penetrance of these mutations. The remaining patients carry one of a set of very rare genetic variants and, it appears that, some of the risk factors that modify the penetrance of the classical pathologic mutations may also affect the phenotype of these other rare mutations. RESULTS: We describe a large family including 95 maternally related individuals, showing 30 patients with Leber hereditary optic neuropathy. The mutation responsible for the phenotype is a novel transition, m.3734A > G, in the mitochondrial gene encoding the ND1 subunit of respiratory complex I. Molecular-genetic, biochemical and cellular studies corroborate the pathogenicity of this genetic change. CONCLUSIONS: With the study of this family, we confirm that, also for this very rare mutation, sex and age are important factors modifying penetrance. Moreover, this pedigree offers an excellent opportunity to search for other genetic or environmental factors that additionally contribute to modify penetrance.

Identifying Factors Associated With Disparities in Access to Integrative Oncology Program.

CONTEXT AND OBJECTIVES: Cancer centers are increasingly providing complementary medicine as part of an emerging discipline termed 'integrative oncology' (IO). The present study explored factors associated with disparities in referral and adherence to a freely-provided IO program. METHODS: The databases of three oncology centers in northern Israel were searched retrospectively for chemotherapy-treated oncology patients eligible for referral by their oncology healthcare professionals to an integrative physician (IP) consultation. Demographic and cancer-related variables associated with the referral, and attendance by patients at the consultation were identified, as was adherence to the 6-week IO treatment program (high adherence, attending ≥4 IO treatment sessions; low adherence, 0-3 sessions). RESULTS: Of 4988 eligible patients, 1694 (34%) were referred to the IP consultation, with 1331 (78.6%) attending the consultation of which 766 (57.6%) were adherent to IO treatments. Multivariate analysis revealed lower referral rates among patients speaking primarily Arabic and Russian vs. Hebrew (OR = 3.0, 95% CI = 2.0-4.6, P < 0.0001); males vs. females (OR = 1.94, CI = 1.3-2.9, P = 0.001); those not reporting emotional distress (OR = 1.5, CI = 1.02-2.16, P = 0.037); and older age (OR = 1.04, CI = 1.03-1.06, P < 0.0001). Arabic and Russian-speaking patients were less likely to adhere to IO treatments (OR = 0.52, 95% CI = 0.32-0.83, P = 0.006). CONCLUSION: Patients' ethno-national origin and immigration status (primary language, Arabic and Russian), male gender and older age were associated with lower rates of referral to and attendance of the IP consultation, with reduced adherence to weekly IO treatments. These findings require further study to identify barriers toward diversity, equity and inclusion in IO care, increasing awareness among healthcare professionals regarding the benefits of these services for improving patient wellbeing.

Virtual Surgical Planning for Temporomandibular Joint Reconstruction with Stock TMJ Prostheses: Pilot Study.

The temporomandibular joint (TMJ) is one of the most complex joints in the human anatomy. In advanced degenerative stages, conservative or minimally invasive surgical therapies have failed to restore joint function, and joint replacement with prostheses has been required. Stock prostheses, compared to custom-made prostheses, are much less expensive and require less pre-operative preparation time. Four patients followed for years for temporomandibular dysfunction and previously operated on by arthroscopy or open joint surgery that have been reconstructed with stock TMJ prostheses (STMJP) through virtual surgical planning (VSP) and an STL model with surgical and positioning guides were included. The median follow-up was 15 months; the median number of previous TMJ surgeries was 2. The mean preoperative MIO was 24.6 mm and at longest follow-up was 36.4 mm. The median preoperative TMJ pain score was 8, and the median postoperative TMJ pain was 3. All patients have improved their mandibular function with a clear improvement of their initial situation. In conclusion, we believe that stock TMJ prostheses with virtual surgical planning and surgical guides are a good alternative for TMJ reconstruction at the present time. Nonetheless, prospective and randomized trials are required with long-term follow up to assess their performance and safety.

Establishing an Integrative Oncology Service: Essential Aspects of Program Development.

PURPOSE OF REVIEW: Over the last 2 decades, integrative oncology (IO) has seen exponential growth within cancer care. It aims to combine evidence-based complementary therapies with conventional treatments to improve the well-being and quality of life for individuals dealing with cancer. The proliferation of integrative medicine programs in major cancer centers globally reflects varying approaches shaped by cultural, demographic, and resource-based factors. RECENT FINDINGS: Drawing upon the expertise of leaders in IO from the Society for Integrative Oncology (SIO) Clinical Practice Committee, this manuscript serves as a practical guide for establishing an IO practice. Collating insights from diverse professionals, including oncologists, integrative oncologists, supportive care physicians, researchers, and clinicians, the paper aims to provide a comprehensive roadmap for initiating and advancing IO services. The primary objective is to bridge the gap between conventional cancer care and complementary therapies, fostering a patient-centric approach to address the multifaceted challenges encountered by individuals with cancer. This paper delineates several key sections elucidating different aspects of IO practice. It delves into the core components necessary for an IO service's foundation, outlines the initial medical consultation process, and presents crucial tools essential for successful consultations. By consolidating insights and expertise, this manuscript seeks to facilitate the integration of IO into mainstream cancer care, ultimately enhancing patient outcomes and experiences.

Telehealth in Cancer Care: Inequities, Barriers, and Opportunities.

ABSTRACT: Telecommunications technology began to be integrated into health care delivery by the mid-1900s, with the goal of increasing access to care including access to cancer care.There have been at least 3 significant telehealth expansion periods, with the most recent related to the COVID-19 pandemic. Technology uptake increased in the 1990s as quality improved, costs came down, and usability factors were addressed. As telehealth practice transitioned to use of personal devices, the COVID-19 pandemic arose, and necessity compelled widespread telehealth uptake. Most patients and clinicians entered the pandemic with little if any telehealth experience and often no training on using personal devices to access health care. Teleoncology data reveal cancer care feasibility and acceptability with generally high levels of satisfaction for both patients and clinicians. Sustaining the progress made in telehealth uptake requires ongoing insurance coverage with parity in coverage, licensure facilitation, and ongoing development of technology that is easy to use. In addition, to tele-cancer care appointments, the technology may be used for care coordination, education, and increased access to cancer clinical trials.

The therapeutic relationship from the perspective of patients and nurses in the first days of admission: A cross-sectional study in acute mental health units.

The therapeutic relationship (TR) is essential in mental health nursing care and plays a fundamental role in the understanding and treatment of the patient's health status. Despite being a bidirectional construct, limited evidence is available to shed light on this issue in mental health units and even less so in the first days of admission. This study aimed to examine the association and differences between nurses' and patients' perspectives on the establishment of the therapeutic relationship in acute mental health units during the first days of hospitalization. A cross-sectional study was carried out in 12 Spanish mental health units. Data were collected from patients and nurses using the Working Alliance Inventory-Short (WAI-S) questionnaire. A total of 234 cases were analysed, including 234 patients and 58 nurses. The results showed a positive association between nurses' and patients' perspectives on the therapeutic relationship, but also revealed significant differences on each WAI-S dimension. Nurses assigned higher scores compared to patients on the perception of the quality of the therapeutic relationship. The dimensions with the greatest weight from the patients' perspective regarding the quality of the therapeutic relationship were the perception of greater agreement on goals and tasks among nurses. This study demonstrates the importance of establishing shared goals and tasks with nurses from the first days of hospitalization to improve the quality of the therapeutic relationship as perceived by patients. These findings underline the need to consider the different perspectives of both parties to promote a high-quality therapeutic relationship.

Práctica deportiva e Inteligencia Emocional en jóvenes. Revisión sistemática / Prática desportiva e Inteligência Emocional em Jovens. Revisão sistemática / Sports practice and Emotional Intelligence in young people. Systematic review

La práctica deportiva y la Inteligencia Emocional en jóvenes se están convirtiendo en constructos muy estudiados en los últimos años. La evidencia disponible revela que, tanto la práctica deportiva como la Inteligencia Emocional, producen beneficios físicos y psicológicos. No obstante, los estudios que analizan la relación entre Inteligencia Emocional y práctica deportiva aún siguen siendo escasos. El objetivo de este estudio se centró en verificar si existe algún tipo de relación entre ambas variables mediante la revisión del estado de la cuestión en este ámbito, permitiendo de esta manera abrir nuevas líneas de investigación sobre esta temática. Se seleccionaron tres bases de datos (WOS, Scopus y PubMed) para la extracción de documentos científicos, analizando los documentos obtenidos con la metodología PRISMA y un análisis de la calidad de la muestra final obtenida. Finalmente fueron revisados 38 artículos. Además, se llevó a cabo una evaluación del contenido de los artículos, realizando un análisis descriptivo de la información mediante el uso de tablas de contingencia y sus índices estadísticos. Los resultados, en concordancia con la literatura examinada, reflejaron la existencia de una asociación positiva entre la Inteligencia Emocional y la práctica deportiva. (AU)

The practice of sports and emotional intelligence in young people have become very much studied constructs in recent years. The aim of this study focused on verifying whether there is any kind of relationship between the two variables by reviewing the state of the art in this field, thus allowing new lines of research to be opened up on this subject. Three databases (WOS, Scopus, and PubMed) were selected for the extraction of scientific documents, analyzing the documents obtained with the PRISMA methodology and an analysis of the quality of the final sample obtained, finally 38 articles were selected. An analysis of the content of the articles was carried out and a descriptive analysis of the information was performed using comparative tables and their statistical indices. The results showed the existence of a positive association between emotional intelligence and sports practice. (AU)

A prática do desporto e a inteligência emocional nos jovens tornaram-se trmas muito estudadas nos últimos anos. O objectivo deste estudo centrou-se em verificar se existe algum tipo de relação entre as duas variáveis através da revisão do estado da arte neste campo, permitindo assim a abertura de novas linhas de investigação sobre este assunto. Foram seleccionadas três bases de dados (WOS, Scopus e PubMed) para a extracção de documentos científicos, analisando os documentos obtidos com a metodologia PRISMA e uma análise da qualidade da amostra final obtida, onde foram incluidos 38 artigos. Foi realizada uma análise do conteúdo dos artigos e uma análise descritiva da informação, utilizando tabelas de comparação e os seus índices estatísticos. Os resultados mostraram a existência de uma associação positiva entre a inteligência emocional e a prática desportiva. (AU)

Depth of Invasion: Influence of the Latest TNM Classification on the Prognosis of Clinical Early Stages of Oral Tongue Squamous Cell Carcinoma and Its Association with Other Histological Risk Factors.

BACKGROUND: The American Joint Committee on Cancer (AJCC), in its 8th edition, introduces modifications to the previous TNM classification, incorporating tumour depth of invasion (DOI). The aim of this research is to analyse the prognosis (in terms of disease-free survival and overall survival) of clinical early stage (I and II) squamous cell carcinomas of the oral tongue according to the DOI levels established by the AJCC in its latest TNM classification to assess changes to the T category and global staging system and to evaluate the association between DOI and other histological risk factors. METHODS: A retrospective longitudinal observational study of a series of cases was designed. All patients were treated with upfront surgery at our institution between 2010 and 2019. The variables of interest were defined and classified into four groups: demographic, clinical, histological and evolutive control. Univariate and multivariate analyses were carried out and survival functions were calculated using the Kaplan-Meier method. Statistical significance was established for p values below 0.05. RESULTS: Sixty-one patients were included. The average follow-up time was 47.42 months. Fifteen patients presented a loco-regional relapse (24.59%) and five developed distant disease (8.19%). Twelve patients died (19.67%). Statistically significant differences were observed, with respect to disease-free survival (p = 0.043), but not with respect to overall survival (p = 0.139). A total of 49.1% of the sample upstaged their T category and 29.5% underwent modifications of their global stage. The analysis of the relationship between DOI with other histological variables showed a significant association with the presence of pathological cervical nodes (p = 0.012), perineural invasion (p = 0.004) and tumour differentiation grade (p = 0.034). Multivariate analysis showed association between depth of invasion and perineural invasion. CONCLUSIONS: Depth of invasion is a histological risk factor in early clinical stages of oral tongue squamous cell carcinoma. Depth of invasion impacts negatively on patient prognosis, is capable per se of modifying the T category and the global tumour staging, and is associated with the presence of cervical metastatic disease, perineural invasion and tumoural differentiation grade.

Barriers in the Management of Obesity in Mexican Children and Adolescents through the COVID-19 Lockdown-Lessons Learned and Perspectives for the Future.

The COVID-19 lockdown caused health system issues, including the need for long-term care for patients with conditions like childhood obesity. We wanted to know how the lockdown had changed our patients' health and which variables had greater influence in preventing and managing overweight and obesity in kids and teens during and after the lockdown. METHODS: Our study comprised two phases. The initial descriptive cross-sectional phase included surveys of children who are overweight or obese and their parents/guardians from the Pediatric Obesity Clinic at the Child Welfare Unit (UBI, acronym in Spanish) in the Hospital General de México "Dr. Eduardo Liceaga" (n = 129). The participants were studied to explore changes in lifestyle, physical activity, sleep patterns, eating behaviors, food consumption, anxiety, and depression. In the second phase, the biochemical, body composition, and anthropometric parameters of 29 pre-COVID-19 patients were compared before and after the lockdown. RESULTS: The survey showed more moderate anxiety and depression, alterations in sleep, physical inactivity, and an increase in the consumption of animal products, fruits, cereals, tubers, sugary drinks, and ultra-processed food. In the study's comparative phase, we observed a substantial increase in BMI z-score (p = 0.01), waist circumference (p < 0.001), fat mass (p < 0.001), percentage of adiposity (p = 0.002), and basal glucose (p = 0.047) and a drop in lean mass (p = 0.008). CONCLUSIONS: The pandemic led to a loss of routines and socioeconomic changes that made it difficult to address weight and obesity in young people. The results show that managing obesity in our patients involves considering both lifestyle and the social environment. This encourages us to consider a comprehensive and personalized approach.

Autologous fat grafting as a novel technique for primary essential cutis verticis gyrata.

Background: Cutis verticis gyrata (CVG) is a condition of excessive skin growth and excessive laxity of the scalp, leading to deep furrows and folds that resemble the gyri and outer surface of the brain. Approaches for the treatment of CVG range from conservative to surgical, the last one being the predominant way of treating the condition, however, the surgery proposed in the recent literature may not be suitable for patients who desire a less invasive approach. Aim: To report the first case of autologous fat injection as a novel treatment option for primary essential CVG. Methods: A 51 -year-old Colombian man, with no medical records was treated with a scalp injection of autologous fat, with previous failed treatment with pressure therapy apply directly on skin is described. Results: A successful cosmetic improvement and a less invasive approach was reached after two sessions of autologous fat grafting. Conclusion: This method allowed excellent cosmetic outcomes while preserving the option of subsequent surgical repair in refractory cases.

How to Make Evidence-Based Integrative Medicine a Part of Everyday Oncology Practice.

Integrativety oncology (IO) is a "patient-centered, evidence-informed field of comprehensive cancer care that utilizes mind-body practices, natural products, and lifestyle modifications from different traditions alongside conventional cancer treatments." There is an urgent need to educate oncology health care providers on the fundamentals of evidence-based IO to meet the needs of people with cancer. In this chapter, we aim to provide oncology professionals with actionable guidance on the basis of the Society for Integrative Oncology (SIO)-American Society of Clinical Oncology (ASCO) guidelines on integrative medicine use during oncology visits to help alleviate symptoms and side effects in people with cancer during and after treatment.

Cancer patient and provider responses to companion scales assessing experiences with LGBTQI-affirming healthcare.

Background: Sexual and gender minority (SGM) persons are at a higher risk for some cancers and may have poorer health outcomes as a result of ongoing minority stress, social stigma, and cisnormative, heteronormative healthcare environments. This study compared patient and provider experiences of affirming environmental and behavioral cues and also examined provider-reported knowledge, attitudes, behaviors, and clinical preparedness in caring for SGM patients among a convenience sample. Methods: National convenience samples of oncology providers (n = 107) and patients (n = 88) were recruited separately via snowball sampling. No incentives were provided. After reverse coding of appropriate items for unidirectional analysis, lower scores on items indicated greater knowledge, more affirming attitudes or behaviors, and greater confidence in clinical preparedness to care for SGM patients. Pearson chi-square tests compared dichotomous variables and independent samples t-tests compared continuous variables. Other results were reported using descriptive frequencies. Results: Both patient and provider samples were predominantly female sex assigned at birth, cisgender, and heterosexual. Providers were more likely than patients to report affirming cues in clinic, as well as the ability for patients to easily document their name in use and pronouns. Providers were more likely to report asking about patient values and preferences of care versus patients' recollection of being asked. Patients were more likely to report understanding why they were asked about both sex assigned at birth and gender identity compared to providers' perceptions that patients would understand being asked about both. Patients were also more likely to report comfort with providers asking about sex assigned at birth and gender identity compared to providers' perceptions of patient comfort. SGM providers had greater knowledge of SGM patient social determinants of health and cancer risks; felt more prepared to care for gay patients; were more likely to endorse the importance of knowing patient sexual orientation and gender identity; and were more likely to indicate a responsibility to learn about SGM patient needs and champion positive system changes for SGM patients compared to heterosexual/cisgender peers. Overall, providers wished for more SGM-specific training. Conclusion: Differences between patient and provider reports of affirming environments as well as differences between SGM and heterosexual/cisgender provider care support the need for expanded professional training specific to SGM cancer care.

Telehealth-Based Music Therapy Versus Cognitive Behavioral Therapy for Anxiety in Cancer Survivors: Rationale and Protocol for a Comparative Effectiveness Trial.

BACKGROUND: Cancer survivors represent one of the fastest growing populations in the United States. Unfortunately, nearly 1 in 3 survivors experience anxiety symptoms as a long-term consequence of cancer and its treatment. Characterized by restlessness, muscle tension, and worry, anxiety worsens the quality of life; impairs daily functioning; and is associated with poor sleep, depressed mood, and fatigue. Although pharmacological treatment options are available, polypharmacy has become a growing concern for cancer survivors. Music therapy (MT) and cognitive behavioral therapy (CBT) are evidence-based, nonpharmacological treatments that have demonstrated effectiveness in treating anxiety symptoms in cancer populations and can be adapted for remote delivery to increase access to mental health treatments. However, the comparative effectiveness of these 2 interventions delivered via telehealth is unknown. OBJECTIVE: The aims of the Music Therapy Versus Cognitive Behavioral Therapy for Cancer-related Anxiety (MELODY) study are to determine the comparative effectiveness of telehealth-based MT versus telehealth-based CBT for anxiety and comorbid symptoms in cancer survivors and to identify patient-level factors associated with greater anxiety symptom reduction for MT and CBT. METHODS: The MELODY study is a 2-arm, parallel-group randomized clinical trial that aims to compare the effectiveness of MT versus CBT for anxiety and comorbid symptoms. The trial will enroll 300 English- or Spanish-speaking survivors of any cancer type or stage who have experienced anxiety symptoms for at least 1 month. Participants will receive 7 weekly sessions of MT or CBT delivered remotely via Zoom (Zoom Video Communications, Inc) over 7 weeks. Validated instruments to assess anxiety (primary outcome), comorbid symptoms (fatigue, depression, insomnia, pain, and cognitive dysfunction), and health-related quality of life will be administered at baseline and at weeks 4, 8 (end of treatment), 16, and 26. Semistructured interviews will be conducted at week 8 with a subsample of 60 participants (30 per treatment arm) to understand individual experiences with the treatment sessions and their impact. RESULTS: The first study participant was enrolled in February 2022. As of January 2023, 151 participants have been enrolled. The trial is expected to be completed by September 2024. CONCLUSIONS: This study is the first and largest randomized clinical trial to compare the short- and long-term effectiveness of remotely delivered MT and CBT for anxiety in cancer survivors. Limitations include the lack of usual care or placebo control groups and the lack of formal diagnostic assessments for psychiatric disorders among trial participants. The study findings will help guide treatment decisions for 2 evidence-based, scalable, and accessible interventions to promote mental well-being during cancer survivorship. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/46281.

Methodological - Theoretical approach to phenomenological studies on the experience of medication use: A systematic review.

BACKGROUND: The study of medication use should include pharmacological, family, and social dimensions to explain how the lived experiences, beliefs, and perceptions of everyone, and their social and cultural environment affects consumption, using for this purpose the qualitative approach. OBJECTIVE: To conduct a systematic review of the theoretical-methodological approaches to phenomenology to identify studies that allow an understanding of patients' experiences with the use of medications.a. METHODS: A systematic literature search was conducted following the PRISMA guidelines to identify studies that address phenomenological research on patients' experiences of medications used and to apply them in subsequent studies. A thematic analysis was performed using ATLAS.ti software to facilitate data management. RESULTS: Twenty-six articles were identified, most of them including adult patients diagnosed with chronic degenerative diseases. The semantic network obtained places Phenomenology at the center as the interpretative referential framework, with three theoretical approaches: descriptive, interpretative, and perceptual under the philosophies of Husserl, Heidegger, and Merleau-Ponty respectively; two techniques to collect data which are in-depth interview and focus groups; and to explore the life experiences of patients and understand the meaning in the context of their lives, thematic analysis, content analysis, and interpretative phenomenological analysis were identified. CONCLUSIONS: It was evidenced that Qualitative Research approaches, methodologies, and techniques are applicable to describe people's experiences towards the use of medications. Phenomenology constitutes a useful referential framework in qualitative research to explain the experiences and perceptions about the disease and the use of medicines.

Effects of chronic low-dose aflatoxin B1 exposure in lactating Florida dairy goats.

In the past few years there has been a growing trend in the prevalence of aflatoxins, attributable to climate change, in substances destined for animal feeding, together with an increase in dairy product consumption. These facts have triggered great concern in the scientific community over milk pollution by aflatoxin M1. Therefore, our study aimed to determine the transfer of aflatoxin B1 from the diet into milk as AFM1 in goats exposed to different concentrations of AFB1, and its possible effect on the production and serological parameters of this species. For this purpose, 18 goats in late lactation were divided into 3 groups (n = 6) and exposed to different daily doses of aflatoxin B1 (T1 = 120 µg; T2 = 60 µg, and control = 0 µg), during 31 d. Pure aflatoxin B1 was administered 6 h before each milking in an artificially contaminated pellet. The milk samples were taken individually in sequential samples. Milk yield and feed intake were recorded daily, and a blood sample was extracted on the last day of exposure. No aflatoxin M1 was detected, either in the samples taken before the first administration, or in the control group ones. The aflatoxin M1 concentration detected in the milk (T1 = 0.075 µg/kg; T2 = 0.035 µg/kg) increased significantly on a par with the amount of aflatoxin B1 ingested. The amount of aflatoxin B1 ingested did not have any influence on aflatoxin M1 carryover (T1 = 0.066% and T2 = 0.060%), these being considerably lower than those described in dairy goats. Thus, we concluded that the concentration of aflatoxin M1 in milk follows a linear relationship with respect to the aflatoxin B1 ingested, and that the aflatoxin M1 carryover was not affected by the administration of different aflatoxin B1 doses. Similarly, no significant changes in the production parameters after chronic exposure to aflatoxin B1 were observed, revealing a certain resistance of the goat to the possible effects of that aflatoxin.

ASCO Ethical Guidance for the US Oncology Community Where Reproductive Health Care Is Limited by Law.

The decision in Dobbs v Jackson Women's Health Organization overturned federal protections for abortion rights, making way for states to enact abortion bans with or without exceptions for the health or life of the pregnant patient. Patient care across many areas of medicine including oncology continues to be affected. Although the change in the legal landscape is widely felt, the core ethical considerations for physicians do not change because of restrictions on the practice of medicine. ASCO offers this guidance to assist US oncologists and institutions who must balance limitations with established ethical duties. This paper articulates principles for cancer care and pregnancy, offers a framework for ethical reflection and action for oncologists who care for pregnant patients, and makes recommendations for individual and institutional action to support evidence-based, patient-centered care in the United States where abortion is illegal or access is limited.