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BACKGROUND: Oral anticancer therapy (OACT) poses adherence-related challenges to patients while generating a setting in which both primary care physicians (PCPs) and oncologists are involved in the active treatment of cancer. Continuity of care (COC) was shown to be associated with medication adherence. While maintaining COC is a central role of the PCP, how this affects continuity with oncologists, and jointly affects OACT adherence, is yet unknown. OBJECTIVES: To explore how aspects of COC act together to promote OACT adherence. Specifically, to examine whether better personal continuity with the PCP leads to better personal continuity with the oncologist, which together lead to better cross-boundary continuity between the oncologist and the PCP, jointly leading to good adherence to OACT. DESIGN AND SETTING: A prospective cohort study conducted in five oncology centers in Israel. A bootstrapping method was used to test the serial mediation model. PARTICIPANTS: Adult patients (age > 18 years) receiving a first OACT prescription (n = 119) were followed for 120 days. MAIN MEASURES: The Nijmegen Continuity Questionnaire was used to assess patients' perceived personal and cross-boundary continuity. The medication possession ratio was used to measure adherence. KEY RESULTS: Better personal continuity with the PCP was associated with better personal continuity with the oncologist (B = 0.35, p < 0.001), which was associated with better cross-boundary continuity (B = 0.33, p < 0.001), which, in turn, was associated with good adherence to OACT (B = 0.46, p = 0.03). Additionally, the indirect effect of personal continuity with the PCP on adherence to OACT through the mediation of personal continuity with the oncologist and cross-boundary continuity was found to be statistically significant (B = 0.053, 95% CI 0.0006-0.17). CONCLUSIONS: In a system where the PCP is the case manager, cancer patients' perceived personal continuity with the PCP has an essential role for initiating a sequence of care delivery events that positively affect OACT adherence.
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Oncología Médica , Médicos de Atención Primaria , Adulto , Continuidad de la Atención al Paciente , Humanos , Israel , Persona de Mediana Edad , Estudios ProspectivosRESUMEN
PURPOSE: Cancer patients undergoing active anti-cancer treatment experience multiple symptoms concurrently. Over the years, studies to improve patients' physical and psychological discomfort by focusing on patients' needs and preferences have reported promising outcomes. This study aims to explore perceived patient-centered care and its association to symptoms experienced by cancer patients undergoing active anti-cancer treatment. METHODS: A cross-sectional study was conducted at an outpatient cancer center between August 2018 and July 2019 among adult cancer patients receiving chemotherapy and biological therapy. Participants were asked by their oncology nurse to complete a self-administered questionnaire which included the three subscales (physical, psychological, and global distress) of the Memorial Symptoms Assessment Scale as well as the perceived patient-centered care questionnaire. To examine the association between participants' perceived patient-centered care and each of the symptoms scale scores, three hierarchical (block-wise) linear regression models were performed. RESULTS: Of the 125 participants, 57 (45.6%) were diagnosed with breast cancer and were treated with chemotherapy either alone (n = 62, 49.6%), with radiotherapy (n = 4, 3.2%), or with biological therapy (n = 45, 36.0%). Hierarchical regression models found that perceived patient-centered care contributed to 11.3%, ß = - .351 (p < 0.001); 8.9%, ß = - .311 (p < 0.001); and 10.3% ß = -.336 (p < 0.001) of the variance of the global distress index, physical symptoms, and psychological symptoms, respectively. CONCLUSIONS: This study shows the importance of perceived patient-centered care in alleviating physical and psychological symptoms and overall distress in cancer patients undergoing active anti-cancer therapy. Our findings call for oncology teams to adopt and implement patient-centered care as part of their routine work.
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Neoplasias de la Mama , Atención Dirigida al Paciente , Adulto , Neoplasias de la Mama/tratamiento farmacológico , Estudios Transversales , Femenino , Humanos , Oncología Médica , Encuestas y CuestionariosRESUMEN
PURPOSE: To explore the association of genomic knowledge, self-epistemic authority (SEA; i.e., subjective perception of knowledge expertise), perceived importance of genomics in nursing, and the integration of genomic skills into nursing practice. DESIGN: A cross-sectional study of nurses working in pediatric, obstetric, and internal wards of two medical centers in Israel between February and October 2018. METHODS: Participants completed anonymous questionnaires about genomic knowledge, SEA, perceived importance of genomics, and the performance of genomic skills in nursing practice. Associations between variables were analyzed using Pearson correlations, and a hierarchical regression model was used to determine which variables explained the performance of genomic practices among participants. FINDINGS: Altogether 423 nurses participated in the study. The mean genomic knowledge was low (55.05 ± 14.82%). Nurses reported a low integration of genomic skills in their practice (M = 1.90, SD = 0.71), although their overall perceived importance of genomics was positive (M = 2.88, SD = 0.68). Positive correlations were found between SEA and the integration of genomic skills in nursing practice. Obstetric nurses had more genomic knowledge, more positive perceptions about genomics, and performed more genomic skills in their nursing practice. CONCLUSIONS: Although nurses realized the importance of genomics to their practice, and genomics is part of the Israeli nursing core curriculum, we found disappointingly low levels of knowledge and performance of genomic skills in nursing practice. CLINICAL RELEVANCE: The results call for action to establish ongoing education programs in genomics for nurses, which would lead to the inclusion of genomic skills into routine nursing practice, and prepare nurses for providing personalized medicine.
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Competencia Clínica , Genómica , Niño , Estudios Transversales , Curriculum , Genómica/educación , Humanos , Encuestas y CuestionariosRESUMEN
INTRODUCTION: The objective of this study was to examine the effect of a novel mindfulness-based time-out intervention on state of mindfulness among emergency nurses and, accordingly, on patient satisfaction. METHODS: A pre-post intervention design among nurses in the emergency department was used with a between-subjects factor of patients who were nested within each nurse. The study was conducted between January 2017 and June 2018 among 48 nurses in the emergency department of a public tertiary academic hospital. For each nurse, a consecutive sample of 20 patients who attended the emergency department was recruited (n = 1920 patients; 960 in each phase). The mindfulness-based time-out intervention was based on theoretical mindfulness principles and carried out every 4 hours with direct communication to the patient at their bedside. Nurses' sociodemographic and professional characteristics and trait mindfulness were collected preintervention. Pre- and postintervention, data was collected on patients' sociodemographic and satisfaction, nurses' state mindfulness, and ED workload. RESULTS: An increase in nurses' state mindfulness and patients' satisfaction was found after the mindfulness-based time-out intervention compared with before the intervention (4.35 [SD = 0.64] vs 4.03 [0.82], P < .001 and 4.03 [0.41] vs 3.16 [0.44], P < .001, respectively). A positive correlation was found between patients' satisfaction and nurses' state mindfulness (r = 0.29, P < .001). The findings also demonstrated that state mindfulness was higher among nurses, characterized by high trait mindfulness, after the mindfulness-based time-out intervention implementation. DISCUSSION: By adapting mindfulness principles to the dynamic environment of the emergency department, we showed that the mindfulness-based time-out intervention was associated with a significant improvement in state mindfulness and patient satisfaction. The findings elucidate the interrelation among several conceptualizations of mindfulness that are increasingly reported in the literature, namely trait and state mindfulness, and interventions to promote mindfulness.
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Atención Plena , Enfermeras y Enfermeros , Servicio de Urgencia en Hospital , Humanos , Satisfacción del Paciente , Carga de TrabajoRESUMEN
OBJECTIVE: Type 1 diabetes mellitus (T1DM) in adolescent patients is often characterized by poor glycemic control. This study aimed at exploring the contribution of learning with computerized simulations to support: (a) mechanistic understanding of the biochemical processes related to diabetes; (b) diabetes self-management knowledge; and (c) glycemic control. We hypothesized that learning with such simulations might support adolescents in gaining a better understanding of the biochemical processes related to glucose regulation, and consequently improve their glycemic control. METHODS: A prospective case-control study was conducted in 12- to 18-year-old adolescents with T1DM (n = 85) who were routinely treated at an outpatient diabetes clinic. While the control group (n = 45) received the routine face-to-face follow-up, the intervention group (n = 40) learned in addition with computerized simulations that were embedded in pedagogically supportive activities. Participants in both groups completed a set of questionnaires regarding sociodemographic characteristics, diabetes mechanistic reasoning and diabetes self-management. Clinical data and serum glycated hemoglobin (HbA1c) levels were gathered from medical records. All the data was collected at recruitment and 3 months later. RESULTS: Analysis revealed improvement HbA1c levels in the intervention group (8.7% ± 1.7%) vs the controls (9.6% ± 1.6%) after 3 months (P < .05). Regression analysis showed that levels of diabetes mechanistic understanding and diabetes self-management knowledge, in addition to sociodemographic parameters, accounted for 31% of the HbA1c variance (P < .001). CONCLUSION: These results suggest that learning with computerized simulations about biochemical processes can improve adolescents' adherence to medical recommendations and result in improved glycemic control. Implementing scientific learning into the hospital educational setting is discussed.
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Diabetes Mellitus Tipo 1/psicología , Control Glucémico , Conocimientos, Actitudes y Práctica en Salud , Entrenamiento Simulado , Adolescente , Estudios de Casos y Controles , Diabetes Mellitus Tipo 1/sangre , Diabetes Mellitus Tipo 1/terapia , Femenino , Hemoglobina Glucada/metabolismo , Humanos , Masculino , Estudios Prospectivos , Automanejo/educación , Factores SocioeconómicosRESUMEN
PURPOSE: To explore factors associated with necessity beliefs and concerns among patients receiving oral anticancer therapy (OACT) and, specifically, to examine the relationship between continuity of care (COC) and patients' beliefs about OACT. METHODS: A cross-sectional study was conducted among patients from four oncology centers receiving OACT (either targeted, hormonal, or chemotherapy). Two months after OACT initiation, patients were asked to participate in a face-to-face or telephone survey. The Beliefs about Medicines Questionnaire was used to examine patients' perceptions of their personal necessity for OACT and concerns about potential adverse effects. The Nijmegen Continuity Questionnaire was used to assess patients' perceived COC. Data on clinical characteristics were collected from medical records. RESULTS: Participants' beliefs about OACT necessity (n = 91) were found to be associated with COC within the oncology team, and with COC between the oncology specialist and the primary care physicians (ß = 0.27, p = 0.003; ß = 0.22, p = 0.02, respectively), beyond age, depression, and cancer type (ΔR2 = 0.14, p < 0.001). Additionally, the difference between participants' beliefs about OACT necessity and their OACT-related concerns was associated with COC within the oncology team (ß = 0.30, p = 0.001), beyond age, income, family status, and cancer type (ΔR2 = 0.09, p = 0.001). CONCLUSIONS: This study shows that cancer patients' perceptions about the COC between care providers are related to their beliefs about OACT necessity, thus providing evidence for the importance of health care delivery approaches that support COC within the oncology team and between the oncology specialist and the primary care physician.
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Antineoplásicos/administración & dosificación , Continuidad de la Atención al Paciente/estadística & datos numéricos , Conocimientos, Actitudes y Práctica en Salud , Neoplasias/tratamiento farmacológico , Administración Oral , Adulto , Antineoplásicos/uso terapéutico , Estudios Transversales , Trastorno Depresivo , Femenino , Humanos , Masculino , Persona de Mediana Edad , Médicos de Atención Primaria , Encuestas y CuestionariosRESUMEN
AIM: To evaluate the impact of patients' understanding of biochemical processes involved in glucose regulation (causal-biochemical knowledge) and of diabetes self-management knowledge on adherence to treatment recommendations among adolescents with type 1 diabetes mellitus. DESIGN: A cross-sectional study. METHODS: Adolescents with type 1 diabetes mellitus, aged 12-18 years and able to read and write in Hebrew or in Arabic were eligible. Participants were recruited between August 2016 - January 2018 during routine visits to the Paediatric Diabetes Clinic; informed consent was obtained as customary. Patients completed sociodemographic, clinical and type 1 diabetes mellitus self-management and biochemical knowledge questionnaires. Adherence to treatment was assessed by patients' serum HbA1c levels, collected from medical records. RESULTS: Ninety-seven patients participated in the study. Mean HbA1c levels were 9.2% (1.9%) and only 24 (24.7%) patients met the recommended HbA1c ≤ 7.5%. Lower HbA1c levels were strongly associated with higher family income, older age at diagnosis and with better type 1 diabetes mellitus self-management and causal-biochemical knowledge. A regression model showed that causal-biochemical knowledge contributed to the variance in HbA1c levels. Furthermore, causal-biochemical knowledge, but not self-management knowledge, was found to mediate the negative relationship between low family income and high HbA1c levels. CONCLUSIONS: Causal-biochemical knowledge is a valuable component for the adherence to diabetes care and glycaemic control. IMPACT: Our study suggests that causal knowledge is a valuable component that should be included in nursing and healthcare educational programmes for adolescents with type 1 diabetes mellitus.
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Glucemia/análisis , Diabetes Mellitus Tipo 1/terapia , Cooperación del Paciente , Adolescente , Estudios Transversales , Diabetes Mellitus Tipo 1/sangre , Femenino , Hemoglobina Glucada/análisis , Humanos , MasculinoRESUMEN
INTRODUCTION: Individual and collective mindfulness attracts growing research attention, yet reports of their impact on health care professionals' work behaviors are scarce, especially in the emergency department. The aim of the current study was to explore whether the association between trait mindfulness and triage accuracy is moderated by the emergency workload environment, and whether this association promotes patient satisfaction subject to levels of collective mindfulness. METHODS: A prospective consecutive nested design was conducted. Data were collected from ED teams (nurses and physicians, N = 96) on individual characteristics and trait mindfulness. Data were also collected on triage accuracy, triage team characteristics, collective mindfulness, workload, and patient satisfaction (N = 960) at a specific patient-ED team encounter. RESULTS: Findings indicated that ED workload environment (b = 0.24, P < 0.01), trait mindfulness (b = 1.80, P < 0.01), and their interaction (b = -0.04, P < 0.05) were associated with triage accuracy. Triage accuracy (b = 1.81, P < 0.001), collective mindfulness (b = 1.29, P < 0.001), and their interaction (b = -0.32, P < 0.001) were associated with patient satisfaction. The moderated-mediation model was significant under high, but not under extreme, levels of ED workload environment and all levels of collective mindfulness. DISCUSSION: Trait and collective mindfulness are relevant to ED triage and patient satisfaction, but their effects are bounded by workload. The beneficial gain of nurses' trait mindfulness on triage accuracy and collective mindfulness on patient satisfaction is demonstrated only under high-workload environments but limited under extreme-workload environments.
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Enfermería de Urgencia/métodos , Servicio de Urgencia en Hospital , Atención Plena/métodos , Satisfacción del Paciente/estadística & datos numéricos , Triaje/métodos , Femenino , Humanos , Masculino , Estudios ProspectivosRESUMEN
To assess the validity and reliability of the Nijmegen Continuity Questionnaire in Hebrew (NCQ-H) for measuring patients' perceived continuity of care in the multiprovider setting of oral anticancer therapy (OACT). Following forward-backward translation of the original instrument into Hebrew, the NCQ-H was administered to adult cancer patients in five oncology centres in Israel, 2-3 months after initiation of OACT (either targeted, hormonal or chemotherapy). Confirmatory factor analysis and Cronbach's alpha were used to assess the validity and reliability of the NCQ-H respectively. A total of 135 patients completed the questionnaire. The postanalysis models for measuring "personal continuity with care provider" (eight items for each provider: the oncology specialist and the primary care physician), and "team/cross-boundary continuity" (four items for each setting: within the oncology team, and between the oncology specialist and the primary care physician) showed good fit for the observed data (root-mean-square error of approximation (RMSEA) = 0.02; RMSEA = 0.015; for each model respectively). Cronbach's alpha was 0.79-0.95 for all subscales. Conclusions. This study provides preliminary evidence for the reliability and validity of the NCQ-H in assessing cancer patients' experience with continuity of care and for its usability in the context of OACT.
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Antineoplásicos/uso terapéutico , Actitud Frente a la Salud , Continuidad de la Atención al Paciente , Neoplasias/tratamiento farmacológico , Oncólogos , Médicos de Atención Primaria , Administración Oral , Anciano , Análisis Factorial , Femenino , Humanos , Masculino , Persona de Mediana Edad , Percepción , Reproducibilidad de los Resultados , Encuestas y Cuestionarios , TraduccionesRESUMEN
Vici syndrome is a progressive neurodevelopmental multisystem disorder due to recessive mutations in the key autophagy gene EPG5. We report genetic, clinical, neuroradiological, and neuropathological features of 50 children from 30 families, as well as the neuronal phenotype of EPG5 knock-down in Drosophila melanogaster. We identified 39 different EPG5 mutations, most of them truncating and predicted to result in reduced EPG5 protein. Most mutations were private, but three recurrent mutations (p.Met2242Cysfs*5, p.Arg417*, and p.Gln336Arg) indicated possible founder effects. Presentation was mainly neonatal, with marked hypotonia and feeding difficulties. In addition to the five principal features (callosal agenesis, cataracts, hypopigmentation, cardiomyopathy, and immune dysfunction), we identified three equally consistent features (profound developmental delay, progressive microcephaly, and failure to thrive). The manifestation of all eight of these features has a specificity of 97%, and a sensitivity of 89% for the presence of an EPG5 mutation and will allow informed decisions about genetic testing. Clinical progression was relentless and many children died in infancy. Survival analysis demonstrated a median survival time of 24 months (95% confidence interval 0-49 months), with only a 10th of patients surviving to 5 years of age. Survival outcomes were significantly better in patients with compound heterozygous mutations (P = 0.046), as well as in patients with the recurrent p.Gln336Arg mutation. Acquired microcephaly and regression of skills in long-term survivors suggests a neurodegenerative component superimposed on the principal neurodevelopmental defect. Two-thirds of patients had a severe seizure disorder, placing EPG5 within the rapidly expanding group of genes associated with early-onset epileptic encephalopathies. Consistent neuroradiological features comprised structural abnormalities, in particular callosal agenesis and pontine hypoplasia, delayed myelination and, less frequently, thalamic signal intensity changes evolving over time. Typical muscle biopsy features included fibre size variability, central/internal nuclei, abnormal glycogen storage, presence of autophagic vacuoles and secondary mitochondrial abnormalities. Nerve biopsy performed in one case revealed subtotal absence of myelinated axons. Post-mortem examinations in three patients confirmed neurodevelopmental and neurodegenerative features and multisystem involvement. Finally, downregulation of epg5 (CG14299) in Drosophila resulted in autophagic abnormalities and progressive neurodegeneration. We conclude that EPG5-related Vici syndrome defines a novel group of neurodevelopmental disorders that should be considered in patients with suggestive features in whom mitochondrial, glycogen, or lysosomal storage disorders have been excluded. Neurological progression over time indicates an intriguing link between neurodevelopment and neurodegeneration, also supported by neurodegenerative features in epg5-deficient Drosophila, and recent implication of other autophagy regulators in late-onset neurodegenerative disease.
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Agenesia del Cuerpo Calloso/diagnóstico , Agenesia del Cuerpo Calloso/genética , Autofagia/genética , Catarata/diagnóstico , Catarata/genética , Trastornos del Neurodesarrollo/diagnóstico , Trastornos del Neurodesarrollo/genética , Proteínas/genética , Agenesia del Cuerpo Calloso/complicaciones , Animales , Proteínas Relacionadas con la Autofagia , Catarata/complicaciones , Preescolar , Estudios Transversales , Drosophila melanogaster , Femenino , Hipocampo/patología , Humanos , Proteínas de Membrana de los Lisosomas , Masculino , Mutación/genética , Trastornos del Neurodesarrollo/complicaciones , Estudios Retrospectivos , Proteínas de Transporte VesicularRESUMEN
PURPOSE: The increasing rates of early-onset breast cancer (BC) and of woman survival render fertility preservation (FP) a pressing issue. We probe women's experiences of FP counseling and decision making, aiming to identify emergent counseling patterns. METHODS: Semi-structured interviews were conducted with 16 women, who had been diagnosed with BC at the ages of 24-38, 1 to 5 years prior to the interview. BC survivors were recruited through posts in online fora, consented to participate, and were invited to tell their FP stories. The transcribed interviews were analyzed thematically, using the phenomenological paradigm. FINDINGS: Doctors' FP recommendations belong into three categories: (a) direct clinical rationale-grounding recommendations in the woman's clinical condition by direct reference to tumor characteristics and prognosis, (b) indirect clinical rationale-reference to the woman's clinical condition by outlining a pressing time-frame, and (c) sociodemographic rationale-focus on the woman's family status. Women's responses revealed primarily detachment and compliance alongside initiative and proactivism. CONCLUSION AND IMPLICATIONS FOR CANCER SURVIVORS: Beyond its contribution to women's future ability to conceive, FP may constitute an arena of personal autonomy and a coping resource for young BC patients. Raising awareness to this significance may sensitize healthcare providers to the role that FP may play in the moment of cancer diagnosis in adding, alongside sickness and prognosis, a focus on family future planning. As such, FP may affect women's quality of life and even survival.
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Neoplasias de la Mama/psicología , Conducta de Elección/ética , Preservación de la Fertilidad/psicología , Calidad de Vida/psicología , Adulto , Neoplasias de la Mama/patología , Femenino , HumanosRESUMEN
To describe factors associated with preimplantation genetic diagnosis (PGD) decisions among Jewish Israeli BRCA1/2 carriers or spouses of a male carrier, we contacted all women who initiated PGD consultation for embryonic BRCA1/2 mutation detection at Sheba Medical Center, prior to March 2014. Applying a qualitative approach, we asked women to elaborate on the factors they considered in either opting for PGD or discontinuing the screening procedure. Participants were 18 Jewish Israeli women; 14 were carriers of one of the Ashkenazi founder mutations in BRCA1/2, and four were spouses of male mutation carriers, who underwent at least one cycle of PGD. Prior to seeking PGD, ten of the women had no children. At the time of the interview, all but three had at least one child. Three factors emerged as key motivators for PGD: having witnessed the disease in a close relative (n = 12); prior IVF treatment for infertility (n = 12); and having pre-existing frozen embryos (n = 6). Ten women withdrew from the PGD process due to clinical, logistical, and financial reasons. In conclusion, most women decided to withdraw from PGD instead of continuing until a successful conception was achieved. Those who opted for PGD attributed their discontinuation of further screening to the emotional burden that is greatly intensified by practical difficulties.
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Proteína BRCA1/genética , Neoplasias de la Mama/genética , Diagnóstico Preimplantación , Diagnóstico Prenatal/métodos , Adulto , Niño , Femenino , Humanos , Israel , Judíos , Masculino , Persona de Mediana Edad , EmbarazoRESUMEN
BACKGROUND/AIM: Parkinson's disease (PD) is associated with mutations in LRRK2, GBA, and SMPD1 genes. We describe the clinical characteristics of PD patients related to their carrier status of the Ashkenazi founder mutations in the aforementioned genes. METHODS: Ashkenazi PD patients (n = 270) were recruited following informed consent, and tested for the founder Ashkenazi mutations in the above genes. Clinical characteristics were compared between carriers and noncarriers. Homozygotes for mutations in GBA or LRRK2, and those who carried mutations in two causative genes were excluded from the analysis. RESULTS: Five (1.85%), 54 (20%), and 22 (8.1%) PD patients carried mutations in SMPD1, GBA or LRRK2, respectively. By post hoc Bonferroni analysis, GBA carriers were singled at a significantly earlier age at diagnosis compared to noncarriers (58.06 ± 10.84 and 62.65 ± 10.86 years, respectively; p = 0.036), and due to bilateral manifestation at diagnosis compared to all other PD groups (n = 8, 15.7% compared to n = 2, 1.1%, respectively; p < 0.001). Other clinical manifestations were comparable between groups. CONCLUSION: Although only GBA mutation carriers, compared to noncarriers, reached statistical significance regarding age at diagnosis, it appears that LRRK2 and SMPD1 mutation carriers may reach significance with larger group numbers.
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Glucosilceramidasa/genética , Proteína 2 Quinasa Serina-Treonina Rica en Repeticiones de Leucina/genética , Enfermedad de Parkinson , Evaluación de Síntomas , Edad de Inicio , Anciano , Anciano de 80 o más Años , Femenino , Predisposición Genética a la Enfermedad , Humanos , Israel/epidemiología , Judíos/genética , Masculino , Mutación , Pruebas Neuropsicológicas , Enfermedad de Parkinson/diagnóstico , Enfermedad de Parkinson/epidemiología , Enfermedad de Parkinson/genética , Enfermedad de Parkinson/psicología , Esfingomielina Fosfodiesterasa/genética , Evaluación de Síntomas/métodos , Evaluación de Síntomas/estadística & datos numéricosRESUMEN
Kohlschutter-Tonz syndrome (KTS) is a rare autosomal-recessive disorder of childhood onset, and it is characterized by global developmental delay, spasticity, epilepsy, and amelogenesis imperfecta. In 12 KTS-affected individuals from a Druze village in northern Israel, homozygosity mapping localized the gene linked to the disease to a 586,513 bp region (with a LOD score of 6.4) in chromosomal region 16p13.3. Sequencing of genes (from genomic DNA of an affected individual) in the linked region revealed chr16: 4,848,632 G>A, which corresponds to ROGDI c.469C>T (p.Arg157(∗)). The nonsense mutation was homozygous in all affected individuals, heterozygous in 10 of 100 unaffected individuals from the same Druze community, and absent from Druze controls from elsewhere. Wild-type ROGDI localizes to the nuclear envelope; ROGDI was not detectable in cells of affected individuals. All affected individuals suffered seizures, were unable to speak, and had amelogenesis imperfecta. However, age of onset and the severity of mental and motor handicaps and that of convulsions varied among affected individuals homozygous for the same nonsense allele.
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Amelogénesis Imperfecta/genética , Codón sin Sentido , Demencia/genética , Epilepsia/genética , Proteínas de la Membrana/genética , Proteínas Nucleares/genética , Adolescente , Edad de Inicio , Animales , Árabes/genética , Secuencia de Bases , Niño , Preescolar , Mapeo Cromosómico , Cromosomas Humanos Par 16/genética , Drosophila/genética , Femenino , Genes Recesivos , Homocigoto , Humanos , Israel , Escala de Lod , Masculino , Datos de Secuencia Molecular , Índice de Severidad de la Enfermedad , Adulto JovenRESUMEN
PURPOSE: To evaluate the association between physicians' behavior and cancer patients' perceived patient-centered care (PCC) and anxiety following medical encounters. METHODS: A prospective study design with 100 encounters, including 100 cancer patients and 22 oncology/surgery physicians, was performed between November 2019 and July 2021. Before the medical encounters, patients were asked to complete the validated State-Trait Anxiety Inventory (STAI), and physicians and patients completed sociodemographic and clinical data. During the medical encounters, structured 'real-time' observations of the physicians' behaviors were performed using the Four Habits Coding Scheme (4HCS). Following the medical encounters, patients were asked to re-complete the STAI and to fill the validated Perceived PCC questionnaire. RESULTS: Mean 4HCS was positively associated with perceived PCC (ß = 0.351, p < 0.001) and contributed 10.5% to the total 25.3% explained variance beyond the sociodemographic and clinical variables. Of the 4HCS sub scales, 'Demonstrate Empathy' displayed the lowest correlation with perceived PCC as compared to informational behaviors. In contrast, mean 4HCS was not associated with post-meeting anxiety (p > 0.05). CONCLUSION: Our 'in-vivo' observations of medical encounters expands on previous studies in educational settings in showing how physicians' behaviors impact real patients' experience. The findings may provide a more accurate picture of physicians' supportive and unsupportive behaviors that impact on perceived PCC and anxiety. Patients may prefer their physicians to focus on the informational content related to their disease trajectory rather than focusing on empathy with their emotions. Physicians should be trained in ways to support patients on how to regain emotional control in stressful medical situations.
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Neoplasias , Médicos , Humanos , Estudios Prospectivos , Comunicación , Médicos/psicología , Ansiedad/psicología , Relaciones Médico-Paciente , Neoplasias/terapia , Neoplasias/psicología , Atención Dirigida al PacienteRESUMEN
OBJECTIVE: The objective of this study was to examine cognitive, emotional, and behavioral impacts of testing for germline mutations in breast/ovarian cancer-associated genes (BRCA1/BRCA2) among men who undergo genetic testing. METHODS: A cross-sectional study compared 51 mutation carriers with 30 men who tested negative for the mutations in both genes. Telephone interviews were conducted with all participants at a median of 4 years after disclosure of test results in a genetic counseling context. Testing-related distress, cancer risk perceptions, perceived behavioral changes following testing, and perceptions of breast cancer were measured using standard questionnaires. RESULTS: Up to 4 years postgenetic testing, 48% of those who tested positively report that the test increased their perceptions of risk, and 74% of them increased surveillance for cancer. Men who had been tested as non-carriers did not report increased perceived risk (0%) and relatively few increased surveillance (31%). Carriers were significantly more distressed from testing, perceived breast cancer as having less consequences and emotional effects on the patient, and as being more treatable than non-carriers. CONCLUSIONS: These results have implications with regard to the Self Regulatory Theory. They show that (i) illness representations are affected by fear-arousing health information; (ii) risk perceptions elicit health behaviors; and (iii) men tested for BRCA mutations have specific concerns that should be attended to.
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Adaptación Psicológica , Neoplasias de la Mama Masculina/psicología , Genes BRCA1 , Genes BRCA2 , Asesoramiento Genético/psicología , Predisposición Genética a la Enfermedad/psicología , Pruebas Genéticas , Adulto , Anciano , Neoplasias de la Mama Masculina/genética , Estudios Transversales , Detección Precoz del Cáncer/estadística & datos numéricos , Estudios de Seguimiento , Tamización de Portadores Genéticos , Predisposición Genética a la Enfermedad/genética , Conductas Relacionadas con la Salud , Humanos , Masculino , Persona de Mediana Edad , PercepciónRESUMEN
Background: Hereditary breast and ovarian cancer and Lynch syndrome are associated with increased lifetime risk for common cancers. Offering cascade genetic testing to cancer-free relatives of individuals with HBOC or LS is a public health intervention for cancer prevention. Yet, little is known about the utility and value of information gained from cascade testing. This paper discusses ELSI encountered during the implementation of cascade testing in three countries with national healthcare systems: Switzerland, Korea, and Israel. Methods: A workshop presented at the 5th International ELSI Congress discussed implementation of cascade testing in the three countries based on exchange of data and experiences from the international CASCADE cohort. Results: Analyses focused on models of accessing genetic services (clinic-based versus population-based screening), and models of initiating cascade testing (patient-mediated dissemination versus provider-mediated dissemination of testing results to relatives). The legal framework of each country, organization of the healthcare system, and socio-cultural norms determined the utility and value of genetic information gained from cascade testing. Conclusion: The juxtaposition of individual versus public health interests generates significant ELSI controversies associated with cascade testing, which compromise access to genetic services and the utility and value of genetic information, despite national healthcare/universal coverage.
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Introduction: Efforts are needed across disciplines to close disparities in genomic healthcare. Nurses are the most numerous trained healthcare professionals worldwide and can play a key role in addressing disparities across the continuum of care. ACCESS is an empirically-based theoretical framework to guide clinical practice in order to ameliorate genomic disparities. Methods: The framework was developed by the International Nursing CASCADE Consortium based on evidence collected between 2005 and 2023 from individuals and families of various ethnic backgrounds, with diverse hereditary conditions, and in different healthcare systems, i.e., Israel, Korea, Switzerland, and several U.S. States. The components of the framework were validated against published scientific literature. Results: ACCESS stands for Advocating, Coping, Communication, cascadE Screening, and Surveillance. Each component is demonstrated in concrete examples of clinical practice within the scope of the nursing profession related to genomic healthcare. Key outcomes include advocacy, active coping, intrafamilial communication, cascade screening, and lifelong surveillance. Advocacy entails timely identification of at-risk individuals, facilitating referrals to specialized services, and informed decision-making for testing. Active coping enhances lifelong adaptation and management of disease risk. Effective intrafamilial communication of predisposition to hereditary disease supports cascade testing of unaffected at-risk relatives. Lifelong surveillance is essential for identifying recurrence, changes in health status, and disease trajectory for life-threatening and for life-altering conditions. Discussion: ACCESS provides a standardized, systematic, situational, and unifying guide to practice and is applicable for nursing and for other healthcare professions. When appropriately enacted it will contribute towards equitable access to genomic resources and services.
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OBJECTIVES: Patients with haematological malignancies receiving immunosuppressive therapy are at highest risk of invasive pneumococcal disease. Our goal was to investigate whether vaccination of haematological patients with pneumococcal 13-valent conjugated vaccine (PCV13) prior to therapy initiation is associated with decreased hospital admissions due to pneumonia or sepsis within 12 months. DESIGN AND SETTING: A longitudinal retrospective cohort study was conducted at the haematology unit of Carmel Medical Center, Israel. PARTICIPANTS: Information on adult patients (>18 years) who were diagnosed between 1 January 2009 and 30 December 2019 with haematological malignancies and received immunosuppressive therapy was retrieved from the electronic health records. Patients with haematological malignancies who received the PCV13 vaccination during or after initiation of the immunosuppressive therapy were excluded from the study. OUTCOME MEASURES: A multivariate logistic regression model was performed to determine whether PCV13 vaccination is associated with fewer hospital admissions due to pneumonia or sepsis. RESULTS: The cohort included 616 patients, of which 418 (67%) patients were not vaccinated and 198 (33%) were vaccinated. Within 12 months, 15.1% (n=63) of non-vaccinated patients compared with only 7.1% (n=14) of the vaccinated patients were hospitalised due to pneumonia or sepsis. The logistic regression analysis demonstrated that receiving PCV13 vaccination is associated with 45% (OR=0.45, 95% CI: 0.246 to 0.839, p=0.012) reduced odds of being hospitalised due to pneumonia or sepsis in patients with haematological malignancies receiving immunosuppressive therapy. CONCLUSION: This is the first observational study to demonstrate the association between PCV13 vaccination and hospital admissions in patients with haematological malignancies receiving immunosuppressive therapy. Patients receiving PCV13 vaccination before immunosuppressive therapy initiation had significantly reduced odds of hospitalisation due to pneumonia or sepsis compared with non-PCV13-vaccinated patients.
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Neoplasias Hematológicas , Infecciones Neumocócicas , Neumonía Neumocócica , Sepsis , Adulto , Estudios de Cohortes , Neoplasias Hematológicas/complicaciones , Hospitalización , Hospitales , Humanos , Israel/epidemiología , Infecciones Neumocócicas/epidemiología , Infecciones Neumocócicas/prevención & control , Vacunas Neumococicas , Neumonía Neumocócica/prevención & control , Estudios Retrospectivos , Sepsis/epidemiología , Streptococcus pneumoniae , Vacunación , Vacunas ConjugadasRESUMEN
Genome-wide association studies of breast cancer have identified multiple single nucleotide polymorphisms (SNPs) that are associated with increased breast cancer risks in the general population. In a previous study, we demonstrated that the minor alleles at three of these SNPs, in FGFR2, TNRC9 and MAP3K1, also confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. Three additional SNPs rs3817198 at LSP1, rs13387042 at 2q35 and rs13281615 at 8q24 have since been reported to be associated with breast cancer in the general population, and in this study we evaluated their association with breast cancer risk in 9442 BRCA1 and 5665 BRCA2 mutation carriers from 33 study centres. The minor allele of rs3817198 was associated with increased breast cancer risk only for BRCA2 mutation carriers [hazard ratio (HR) = 1.16, 95% CI: 1.07-1.25, P-trend = 2.8 x 10(-4)]. The best fit for the association of SNP rs13387042 at 2q35 with breast cancer risk was a dominant model for both BRCA1 and BRCA2 mutation carriers (BRCA1: HR = 1.14, 95% CI: 1.04-1.25, P = 0.0047; BRCA2: HR = 1.18 95% CI: 1.04-1.33, P = 0.0079). SNP rs13281615 at 8q24 was not associated with breast cancer for either BRCA1 or BRCA2 mutation carriers, but the estimated association for BRCA2 mutation carriers (per-allele HR = 1.06, 95% CI: 0.98-1.14) was consistent with odds ratio estimates derived from population-based case-control studies. The LSP1 and 2q35 SNPs appear to interact multiplicatively on breast cancer risk for BRCA2 mutation carriers. There was no evidence that the associations vary by mutation type depending on whether the mutated protein is predicted to be stable or not.