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1.
BMC Palliat Care ; 23(1): 163, 2024 Jul 01.
Article in English | MEDLINE | ID: mdl-38951852

ABSTRACT

BACKGROUND: National palliative care plans depend upon stakeholder engagement to succeed. Assessing the capability, interest, and knowledge of stakeholders is a crucial step in the implementation of public health initiatives, as recommended by the World Health Organisation. However, utilising stakeholder analysis is a strategy underused in public palliative care. OBJECTIVE: To conduct a stakeholder analysis characterising a diverse group of stakeholders involved in implementing a national palliative care plan in three rural regions of an upper-middle-income country. METHODS: A descriptive cross-sectional study design, complemented by a quantitative stakeholder analysis approach, was executed through a survey designed to gauge stakeholders' levels of interest and capability in relation to five fundamental dimensions of public palliative care: provision of services, accessibility of essential medicines, palliative care education, financial support, and palliative care vitality. Stakeholders were categorised as promoters (high-power, high-interest), latent (high-power, low-interest), advocates (low-power, high-interest), and indifferent (low-power and low-interest). Stakeholder self-perceived category and knowledge level were also assessed. RESULTS: Among the 65 surveyed stakeholders, 19 were categorised as promoters, 34 as advocates, 9 as latent, and 3 as indifferent. Stakeholders' self-perception of their category did not align with the results of the quantitative analysis. When evaluated by region and palliative care dimensions the distribution of stakeholders was nonuniform. Palliative care funding was the dimension with the highest number of stakeholders categorised as indifferent, and the lowest percentage of promoters. Stakeholders categorised as promoters consistently reported a low level of knowledge, regardless of the dimension, region, or their level of interest. CONCLUSIONS: Assessing the capability, interest, and knowledge of stakeholders is a crucial step when implementing public health initiatives in palliative care. It allows for a data-driven decision-making process on how to delegate responsibilities, administer financial resources, and establish governance boards that remain engaged and work efficiently.


Subject(s)
Palliative Care , Stakeholder Participation , Humans , Palliative Care/methods , Palliative Care/standards , Cross-Sectional Studies , Surveys and Questionnaires , Male , Female , Adult , Middle Aged
2.
J Infect Public Health ; 17(7): 102473, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38865774

ABSTRACT

BACKGROUND: Cancer patients often have weakened immune systems, resulting in a lower response to vaccines, especially those receiving immunosuppressive oncological treatment (OT). We aimed to assess the impact of OT on the humoral and T-cell response to the B.1 lineage and Omicron variant following COVID-19 vaccination in patients with solid and hematological neoplasms. METHODS: We conducted a prospective study on cancer patients, stratified into OT and non-OT groups, who received a two-dose series of the COVID-19 mRNA vaccine and a booster six months later. The outcomes measured were the humoral (anti-SARS-CoV-2 S IgG titers and ACE2-S interaction inhibition capacity) and cellular (SARS-CoV-2 S-specific T-cell spots per million PBMCs) responses against the B.1 lineage and Omicron variant. These responses were evaluated four weeks after the second dose (n = 98) and eight weeks after the booster dose (n = 71). RESULTS: The humoral response after the second vaccine dose against the B.1 lineage and Omicron variant was significantly weaker in the OT group compared to the non-OT group (q-value<0.05). A booster dose of the mRNA-1273 vaccine significantly improved the humoral response in the OT group, making it comparable to the non-OT group. The mRNA-1273 vaccine, designed for the original Wuhan strain, elicited a weaker humoral response against the Omicron variant compared to the B.1 lineage, regardless of oncological treatment or vaccine dose. In contrast, T-cell responses against SARS-CoV-2, including the Omicron variant, were already present after the second vaccine dose and were not significantly affected by oncological treatments. CONCLUSIONS: Cancer patients, particularly those receiving immunosuppressive oncological treatments, should require booster doses and adapted COVID-19 vaccines for new SARS-CoV-2 variants like Omicron. Future studies should evaluate the durability of the immune response and the efficacy of individualized regimens.


Subject(s)
Antibodies, Viral , COVID-19 Vaccines , COVID-19 , Neoplasms , SARS-CoV-2 , Spike Glycoprotein, Coronavirus , Humans , Prospective Studies , Male , COVID-19/immunology , COVID-19/prevention & control , Female , Middle Aged , COVID-19 Vaccines/immunology , COVID-19 Vaccines/administration & dosage , Spike Glycoprotein, Coronavirus/immunology , SARS-CoV-2/immunology , Aged , Neoplasms/immunology , Antibodies, Viral/blood , T-Lymphocytes/immunology , Immunization, Secondary , Vaccination , Adult , Immunity, Humoral , Immunoglobulin G/blood , Immunocompromised Host , Immunity, Cellular
3.
Rev. colomb. cir ; 39(2): 209-217, 20240220. tab, fig
Article in Spanish | LILACS | ID: biblio-1532576

ABSTRACT

Introducción. Los cuidados paliativos responden al sufrimiento de pacientes terminales y requieren personal entrenado para la intervención. Forman parte de la actividad en cirugía, sin embargo, no encontramos información sobre la educación de postgrado en cirugía en Colombia. El objetivo de este estudio fue evaluar el nivel de conocimientos en cuidados paliativos, la calidad de la formación y las estrategias pedagógicas en los residentes. Métodos. Estudio observacional con recolección de la información autodiligenciada por medio electrónico. Resultados. Participaron 228 residentes, 7,8 % mencionaron asistir a rotación en cuidado paliativo y 66,6 % tener contacto con especialistas en cuidados paliativos. El 30,7 % no identificó una estrategia pedagógica clara. El 29,3 % tuvo alto nivel de conocimiento y 21,1 % adecuada calidad de formación. El 83,8 % tuvo un alto nivel en el manejo de obstrucción intestinal. No hubo asociación entre el nivel de conocimiento y las variables evaluadas (p>0,05). Conclusiones. Ni el aprendizaje recibido, ni el año de entrenamiento tuvieron efecto en el nivel percibido de conocimiento. Las competencias en cuidados paliativos, sus métodos y la calidad del aprendizaje son deficientes a nivel de postgrado en cirugía en Colombia. Probablemente está en un currículo oculto. Es necesario implementar estrategias pedagógicas en los currículos de estudios de los programas de formación de cirujanos.


Introduction. Palliative care responds to the suffering of terminal patients and requires trained personnel for intervention. They are part of the activity in surgery; however, we did not find information about postgraduate education in surgery in Colombia. The objective of this study was to evaluate the level of knowledge in palliative care, the quality of training and pedagogical strategies in residents. Methods. Observational study with self-completed information collection by electronic means. Results. A total of 228 residents participated, 7.8% mentioned a palliative care rotation and 66.6% mentioned having contact with palliative care specialists; 30.7% did not identify a clear pedagogical strategy; 29.3% had a high level of knowledge and 21.1% had adequate quality of training; 83.8% had a high level in the management of intestinal obstruction. There was no association between the level of knowledge and the variables evaluated (p>0.05). Conclusions. Neither the learning received nor the year of training had an effect on the perceived level of knowledge. Competencies in palliative care, its methods and the quality of learning are deficient at the postgraduate level in surgery in Colombia. It is probably on a hidden resume. It is necessary to implement pedagogical strategies in the study curricula of surgeon training programs.


Subject(s)
Humans , Palliative Care , General Surgery , Education, Medical, Graduate , Competency-Based Education , Palliative Medicine , Surgical Oncology
4.
Article in English | MEDLINE | ID: mdl-38220046

ABSTRACT

Universal hearing screening offers unique possibilities for detection of congenital deafness as a consequence of congenital cytomegalovirus (CMVc) infection, so its selective study in the case of a failed test could be a non-negligible screening opportunity while other guidelines covering the possibility of universal screening are adopted. The aim of this study is to analyse the possibility of selective screening for CMVc after an altered hearing test in a regional hospital. During the period studied, the results obtained were unsatisfactory, especially in children born outside the hospital of residence, showing an excessive delay in hearing screening in many cases and in the few cases where CMVc screening could be performed, only 30% had the test ordered in a timely manner. The reasons for this are varied and the solution is to include selective screening for CMVc in the hearing screening programme. This implies shortening the timing of the hearing screening protocol to allow CMVc testing in saliva or urine (preferably) before 21 days of age and providing screening programmes with the necessary staff and time to perform it properly.


Subject(s)
Cytomegalovirus Infections , Hearing Tests , Neonatal Screening , Humans , Cytomegalovirus Infections/congenital , Cytomegalovirus Infections/diagnosis , Infant, Newborn , Neonatal Screening/methods , Secondary Care Centers , Female , Deafness/congenital , Deafness/diagnosis , Male
5.
Audiol Res ; 13(4): 655-669, 2023 Aug 15.
Article in English | MEDLINE | ID: mdl-37622934

ABSTRACT

Second-level hospitals face peculiarities that make it difficult to implement hearing rescreening protocols, which is also common in other settings. This study analyzes the hearing rescreening process in these kinds of hospitals. A total of 1130 individuals were included; in this cohort, 61.07% were hospital newborns who failed their first otoacoustic emission test after birth (n = 679) or were unable to perform the test (n = 11), and who were then referred to an outpatient clinic. The remaining 38.93% were individuals born in another hospital with their first test conducted in the outpatient clinic (n = 440). A high number of rescreenings were made outside of the recommended time frame, mainly in children referred from another hospital. There was a high lost-to-follow-up rate, especially regarding otolaryngologist referrals. Neonatal hearing screening at second-level hospitals is difficult because of staffing and time constraints. This results in turnaround times that are longer than recommended, interfering with the timely detection of hearing loss. This is particularly serious in outpatient children with impaired screening. Referral to out-of-town centers leads to unacceptable follow-up loss. Legislative support for all these rescreening issues is necessary. In this article, these findings are discussed and some solutions are proposed.

6.
Palliat Care Soc Pract ; 17: 26323524231189520, 2023.
Article in English | MEDLINE | ID: mdl-37584058

ABSTRACT

Background: To achieve universal care and overcome existing barriers, the most effective strategy is to devise an action plan that incorporates palliative care into primary health care (PHC), as recommended by the World Health Organization's (WHO) Astana Declaration. In Colombia, a country with an upper-middle-income status, about 128,000 individuals experience severe health-related suffering (SHS) that necessitates palliative care. Although the country's healthcare system has made steady strides in the integration and development of palliative care, there is still no national plan in place for palliative care. Objective: Build up Colombia's palliative care plan through stakeholder consensus. Method: Based on the participatory action research method and the multi-stakeholder platforms model, this study convened 142 stakeholders from different levels of the health system (patient representatives, journalists, health professionals, government entities, insurance companies, universities, and drug regulatory authorities). Results: The national plan aims to achieve its objectives through a series of strategic actions. These include integrating and diversifying palliative care services, improving access to opioids, increasing palliative care education, promoting community-based palliative care programs, securing funding, and implementing a regulatory framework for palliative care by public policymakers. Conclusions: The national palliative care is an alliance that aims to reduce palliative care inequity in Colombia by 2026 by empowering stakeholders nationwide to collaborate around specific goals and objectives.

7.
J Thorac Oncol ; 18(11): 1504-1523, 2023 11.
Article in English | MEDLINE | ID: mdl-37437883

ABSTRACT

INTRODUCTION: Lung cancer remains the deadliest cancer in the world, and lung cancer survival is heavily dependent on tumor stage at the time of detection. Low-dose computed tomography screening can reduce mortality; however, annual screening is limited by low adherence in the United States of America and still not broadly implemented in Europe. As a result, less than 10% of lung cancers are detected through existing programs. Thus, there is a great need for additional screening tests, such as a blood test, that could be deployed in the primary care setting. METHODS: We prospectively recruited 1384 individuals meeting the National Lung Screening Trial demographic eligibility criteria for lung cancer and collected stabilized whole blood to enable the pipetting-free collection of material, thus minimizing preanalytical noise. Ultra-deep small RNA sequencing (20 million reads per sample) was performed with the addition of a method to remove highly abundant erythroid RNAs, and thus open bandwidth for the detection of less abundant species originating from the plasma or the immune cellular compartment. We used 100 random data splits to train and evaluate an ensemble of logistic regression classifiers using small RNA expression of 943 individuals, discovered an 18-small RNA feature consensus signature (miLung), and validated this signature in an independent cohort (441 individuals). Blood cell sorting and tumor tissue sequencing were performed to deconvolve small RNAs into their source of origin. RESULTS: We generated diagnostic models and report a median receiver-operating characteristic area under the curve of 0.86 (95% confidence interval [CI]: 0.84-0.86) in the discovery cohort and generalized performance of 0.83 in the validation cohort. Diagnostic performance increased in a stage-dependent manner ranging from 0.73 (95% CI: 0.71-0.76) for stage I to 0.90 (95% CI: 0.89-0.90) for stage IV in the discovery cohort and from 0.76 to 0.86 in the validation cohort. We identified a tumor-shed, plasma-bound ribosomal RNA fragment of the L1 stalk as a dominant predictor of lung cancer. The fragment is decreased after surgery with curative intent. In additional experiments, results of dried blood spot collection and sequencing revealed that small RNA analysis could potentially be conducted through home sampling. CONCLUSIONS: These data suggest the potential of a small RNA-based blood test as a viable alternative to low-dose computed tomography screening for early detection of smoking-associated lung cancer.


Subject(s)
Lung Neoplasms , Humans , Lung Neoplasms/diagnosis , Lung Neoplasms/genetics , Early Detection of Cancer/methods , Lung/pathology , Smoking , RNA
8.
Semin Oncol Nurs ; 39(4): 151451, 2023 08.
Article in English | MEDLINE | ID: mdl-37217435

ABSTRACT

OBJECTIVES: To identify subgroups of psychoneurological symptoms (PNS) and their relationship to different clinical variables in a sample of women with breast cáncer (BC) with different type of treatment, and the possible influence of these on quality of life (QoL), using a factorial principal components analysis. DATA SOURCES: Observational, cross-sectional, non-probability study (2017-2021) at Badajoz University Hospital (Spain). A total of 239 women with BC receiving treatment were included. RESULTS: 68% of women presented fatigue, 30% depressive symptoms, 37.5% anxiety, 45% insomnia, and 36% cognitive impairment. The average score obtained for pain was 28.9. All the symptoms were related between themselves, and within the cluster of PNS. The factorial analysis showed three subgroups of symptoms, which accounted for 73% of variance: state and trait anxiety (PNS-1), cognitive impairment, pain and fatigue (PNS-2), and sleep disorders (PNS-3). The depressive symptoms were explained equally by PNS-1 and PNS-2. Additionally, two dimensions of QoL were found (functional-physical and cognitive-emotional. These dimensions correlated with the three PNS subgroups found. A relationship was found between chemotherapy treatment and PNS-3, and its negative impact on QoL. CONCLUSIONS: A specific pattern of grouped symptoms in a psychoneurological cluster with different underlying dimensions has been identified which negatively influences QoL of survivors of BC. IMPLICATION FOR NURSING PRACTICE: It is important to raise awareness among professionals and patients about the existence of a cluster of PNS, the patient's profile, as well as the factors that exacerbate them. This will allow them to be treated more effectively and comprehensively.


Subject(s)
Breast Neoplasms , Female , Humans , Breast Neoplasms/complications , Breast Neoplasms/therapy , Cross-Sectional Studies , Fatigue/epidemiology , Fatigue/etiology , Pain , Prevalence , Quality of Life/psychology , Syndrome
9.
Am J Hosp Palliat Care ; 40(12): 1379-1389, 2023 Dec.
Article in English | MEDLINE | ID: mdl-36964691

ABSTRACT

Background: Infections are common in patients with advanced illnesses for whom the intravenous or oral route is not possible. The subcutaneous administration of antibiotics is a promising alternative, but there is not enough theoretical support for its use. This study aims to explore the effectiveness and safety of subcutaneous antibiotic therapy in the context of palliative care in elderly patients. Methods: A systematic review was conducted using PubMed and Embase, without time or language limits. Seven articles were selected on the effectiveness of subcutaneous antibiotic therapy in adult patients with chronic progressive diseases. The quality of the articles was assessed with the Newcastle Ottawa Scale and relevant data was extracted using a selection capture file. Results: Seven quasi-experimental studies evaluated 865 elderly patients with advanced diseases, comorbidities, and infections (ie, urinary tract, respiratory system, and bone joint) who received subcutaneous antibiotic therapy (ie, Ceftriaxone, Ertapenem, and Teicoplanin). The pooled success rate of subcutaneous antibiotics for the 7 studies was 71%, the therapy failure rate was 22%, its withdrawal mean was 8%, and the mean mortality rate was 7%. The studies were of low quality and were heterogeneous in the types of infections, types of antibiotics, time of follow-up, and outcomes assessed. Conclusions: Pilot studies have found a limited number of antibiotics that can be safely used to treat specific infections. Nevertheless, the data isn´t robust enough to recommend their use.


Subject(s)
Anti-Bacterial Agents , Ceftriaxone , Adult , Humans , Aged , Anti-Bacterial Agents/therapeutic use , Ertapenem
10.
Am J Hosp Palliat Care ; 40(8): 936-944, 2023 Aug.
Article in English | MEDLINE | ID: mdl-36331174

ABSTRACT

Context: Telemedicine offers the opportunity to provide remote palliative care for patients to control symptoms and improve quality of life, even for patients with advanced diseases. Objectives: Establish a telemedicine model of rural palliative care for advanced cancer patients with difficulties in accessing standard care. Methods: This review comports with the minimum standards described in the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) and uses the palliative care literature review iterative method (PALETTE) proposed by Zwakman et al in 2018. Results: Three hundred, ninety-two articles were identified in PubMed and EMBASE databases and alternative search engines such as Google Scholar and OpenGrey. A telemedicine delivery model was developed for patients with limited access to standard care, which consists of identifying the candidate population, establishing the most convenient telemedicine modality, agreeing with patients and caregivers on palliative care needs, and evaluating the interventions effectiveness. Conclusion: Telemedicine is a revolutionary tool to provide palliative care to advanced cancer patients whose clinical condition or location prevent them from accessing conventional care.


Subject(s)
Neoplasms , Telemedicine , Humans , Palliative Care/methods , Quality of Life , Caregivers , Telemedicine/methods , Neoplasms/therapy
11.
Inquiry ; 59: 469580221133217, 2022.
Article in English | MEDLINE | ID: mdl-36317765

ABSTRACT

This study aimed to identify barriers to access to palliative care through a social mapping approach. In Colombia, the barriers to access to palliative care denote an enormous geographic disparity of resources and health needs, making it necessary to conduct community-based participatory research using an approach such as social mapping. A qualitative research design was used. Stakeholders from health insurance companies, regulatory authorities, regional health secretariats, health care professionals, patient and caregiver organizations, scientific societies, and medical journalists from 7 Colombian regions participated. It involved 3 stages. Stage 1: Semi-structured, audio-recorded interviews were conducted with 36 stakeholders and were subsequently transcribed and analyzed. Stage 2: An electronic survey was conducted to obtain feedback on the first outline of the map and the categories that emerged from stage 1. Stage 3: The nominal group technique was used to analyze and validate the barriers to access to palliative care included in the final map. The COREQ checklist was used. Twenty-seven barriers to access to palliative care related to limited availability of medications, stakeholders' poor knowledge of regulations, limited formal education in palliative care, few patients' support networks, patient care fragmentation, few specialized programs of palliative care, and mistaken beliefs about palliative care were identified. Stakeholders' diverse perspectives and opinions were crucial to understanding the development of palliative care in Colombia and its challenges. Better knowledge about palliative care can open opportunities to overcome the barriers identified in this study, directly impacting access to palliative care.


Subject(s)
Palliative Care , Stakeholder Participation , Humans , Colombia , Qualitative Research , Caregivers
12.
Rev Colomb Psiquiatr ; 2022 Oct 24.
Article in Spanish | MEDLINE | ID: mdl-36311343

ABSTRACT

INTRODUCTION: End-of-life care is one of the most crucial experiences for both the patient and their loved ones. However, as a result of the changes generated by the COVID 19 pandemic, the dynamics of the end-of-life process has undergone changes at both the family, social and health levels. In turn, this has altered the perception and development of the grief of relatives of patients who died during the pandemic regardless of the cause of death. Then, the aim of this study is to analyze the perceptions and some aspects of bereavement of died patients` relatives during the pandemic of Covid 19. METHODS: Through the admission evaluation and follow-up of the relatives with an adapted version of the international Care Of the Dying Evaluation (iCODE) questionnaire. RESULTS: 239 relatives were surveyed, of which 112 completed the follow-up questionnaire. Most of the patients died at home and their family members were highly involved in their care. Medical attention was considered adequate and the symptom with the highest perception was pain. 87% of those surveyed participated in funeral rites, and 42% rated them as very sober. Regarding grief, the scale of personal growth predominates, however, in the negative aspects, the feeling of pressure in the chest and frequent crying predominates. CONCLUSIONS: The end of life of home-care patients during the pandemic was perceived as adequate, allowing family support and symptom control. The grieving process shows no complications. The training of health professionals in these fundamental aspects of patient care is important.

13.
J Clin Med ; 11(9)2022 Apr 23.
Article in English | MEDLINE | ID: mdl-35566489

ABSTRACT

Background: Chemotherapy-related cognitive impairment (CRCI), or "chemobrain," isdefined as a phenomenon of cognitive deficits in cancer patients after chemotherapy and is characterized by deficits in areas of cognition, including memory, attention, speed of processing, and executive function, which seriously affect quality of life. The purpose of this study is to investigate the impact of CRCI in breast cancer (BC) patients in chemotherapy treatment (CT+) or not (CT−) and to analyze their relationship with detectable objective changes in cerebral activity during the execution of a phonological and semantic verbal fluency task (PVF and SVF). Methods: An observational, cross-sectional study was carried out at Badajoz University Hospital (Spain). A total of 180 women with BC were included. We used Cognitive Scale (FACT-Cog) for neuropsychological subjective assessment, obtaining scores of perceived cognitive impairment (PCI), and near-infrared spectroscopy system (NIRS) for neuropsychological objective assessment during a verbal fluency task (PVF and SVF), determining alterations in the prefrontal cortex (PFC) assessed as changes in regional saturation index (rSO2). Results: A total of 41.7% percent of the patients in the sample had PCI. CT+ was significantly associated with a worse impact in PCI (X¯ = 50.60 ± 15.64 vs. X¯ = 55.01 ± 12.10; p = 0.005). Average rSO2 decreased significantly in CT+ (X¯ = 63.30 ± 8.02 vs. X¯ = 67.98 ± 7.80; p < 0.001), and BC patients showed a significant decrease in PVF and SVF on average (X¯ = 41.99 ± 9.52 vs. X¯ = 47.03 ± 9.31, and X¯ = 33.43 ± 11.0 vs. X¯ = 36.14 ± 10.68, respectively; p < 0.001). Conclusions: Our findings suggest that cognitive impairments in the domain of executive functioning exist among patients with BC who received CT. The results corroborate the hypothesis that CT is an important factor in cognitive impairment in patients with BC, which has been demonstrated by both subjective (PCI) and objective (PVF, SVF, and rSO2) neuropsychological measures. The combination of doxorubicin, cyclophosphamide, and docetaxel induce cognitive impairment.

14.
Article in English | MEDLINE | ID: mdl-35329232

ABSTRACT

Breast cancer (BC) is a major public health problem internationally. Although illness survival rates have improved, patients usually suffer multiple symptoms, both physical and psychological, which can affect their quality of life (QoL). The main aim of this study was to evaluate depressive symptoms, anxiety and the QoL of people with BC. An observational, cross-sectional study was carried out at Badajoz University Hospital (Spain). A total of 200 women with BC were included. EORTC QLQ-C30 and QLQ-BR23 questionnaires were used to assess QoL. Patients were screened for depressive symptoms using the Beck Depression Inventory (BDI) and for state anxiety and trait anxiety using the State Anxiety Inventory (STAI). Thirty-eight percent of the patients in the sample had moderate to severe anxiety, which was related to the time of diagnosis, advanced stage of illness and surgical treatment. We found that 28% of patients had depressive symptoms, related mainly with time of diagnosis, adjuvant therapy and number of cycles of chemotherapy (CT). Patients with the longest time since diagnosis, in stage III, and in treatment with CT, especially those with the greatest number of cycles, had the worst scores in QoL. We found a positive association between depressive symptoms and anxiety with QoL in patients with BC.


Subject(s)
Breast Neoplasms , Quality of Life , Anxiety/epidemiology , Breast Neoplasms/psychology , Cross-Sectional Studies , Depression/epidemiology , Depression/psychology , Female , Humans , Male , Surveys and Questionnaires
15.
J Med Genet ; 59(3): 253-261, 2022 03.
Article in English | MEDLINE | ID: mdl-33579810

ABSTRACT

INTRODUCTION: Kagami-Ogata syndrome (KOS14) and Temple syndrome (TS14) are two disorders associated with reciprocal alterations within the chr14q32 imprinted domain. Here, we present a work-up strategy for preimplantation genetic testing (PGT) to avoid the transmission of a causative micro-deletion. METHODS: We analysed DNA from the KOS14 index case and parents using methylation-sensitive ligation-mediated probe amplification and methylation pyrosequencing. The extent of the deletion was mapped using SNP arrays. PGT was performed in trophectoderm samples in order to identify unaffected embryos. Samples were amplified using multiple displacement amplification, followed by genome-wide SNP genotyping to determine the at-risk haplotype and next-generation sequencing to determine aneuploidies. RESULTS: A fully methylated pattern at the normally paternally methylated IG-DMR and MEG3 DMR in the KOS14 proband, accompanied by an unmethylated profile in the TS14 mother was consistent with maternal and paternal transmission of a deletion, respectively. Further analysis revealed a 108 kb deletion in both cases. The inheritance of the deletion on different parental alleles was consistent with the opposing phenotypes. In vitro fertilisation with intracytoplasmatic sperm injection and PGT were used to screen for deletion status and to transfer an unaffected embryo in this couple. A single euploid-unaffected embryo was identified resulting in a healthy baby born. DISCUSSION: We identify a microdeletion responsible for multigeneration KOS14 and TS14 within a single family where carriers have a 50% risk of transmitting the deletion to their offspring. We show that PGT can successfully be offered to couples with IDs caused by genetic anomalies.


Subject(s)
Abnormalities, Multiple , Preimplantation Diagnosis , Abnormalities, Multiple/genetics , Aneuploidy , Chromosomes, Human, Pair 14 , Female , Genetic Testing/methods , Humans , Pregnancy , Uniparental Disomy
16.
Rev. mex. anestesiol ; 44(3): 237-240, jul.-sep. 2021. graf
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1347747

ABSTRACT

Resumen: Introducción: Manuscritos médicos neogranadinos permitieron la divulgación y conservación de conocimientos y prácticas médicas entre los siglos XVIII y XIX, estos escritos están basados en la administración de agentes medicinales, usados con el fin de atenuar síntomas generados por múltiples enfermedades. Objetivo: Contextualizar el manejo del dolor durante el período colonial a través de una receta médica de la época. Simultáneamente, exponer las posibles bases científicas que expliquen su utilidad. Material y métodos: Búsqueda documental en el archivo histórico de la biblioteca Octavio Arizmendi Posada de la Universidad de La Sabana, donde se encontró la receta médica titulada «Reumas, gota y herpes¼. Resultados: La medicina durante el siglo XVI y XIX en el Virreinato de la Nueva Granada moduló el dolor a través de la aplicación de calor local en la infección por virus del herpes simple siendo efectivo en la reducción de los síntomas. La eficacia de la termoterapia en el alivio del dolor en enfermedades reumatológicas es controversial. Conclusiones: Los manuscritos médicos permiten viajar al pasado para entender las prácticas médicas de nuestros predecesores. En la actualidad, existe evidencia científica que respalda la efectividad de la aplicación de calor local en el manejo del dolor herpético y reumatológico.


Abstract: Introduction: New Granada medical manuscripts allowed the dissemination and preservation of medical knowledge and practices between the 18th and 19th centuries, these writings are based on the administration of medicinal agents made of plant, animal, mineral, used to attenuate symptoms generated by multiple diseases. Objective: To contextualize pain management during the colonial period through a medical prescription of the time. Simultaneously, expose the possible scientific bases that explain its usefulness. Material and methods: Documentary search in the historical archive of the Octavio Arizmendi Posada library of the University of La Sabana, where the medical prescription entitled «Reumas, gota y herpes¼ was found. Results: Medicine during the 16th and 19th centuries in the Viceroyalty of New Granada modulated pain through thermotherapy in herpes simplex virus infection, being effective in reducing pain, inflammation and itching. The efficacy of thermotherapy in relieving pain in rheumatological diseases is controversial. Conclusions: Medical manuscripts allow us to travel to the past to understand the medical practices of our predecessors. There is currently scientific evidence supporting the effectiveness of thermotherapy in the management of herpetic and rheumatological pain.

17.
Oncol Nurs Forum ; 48(5): 535-545, 2021 09 01.
Article in English | MEDLINE | ID: mdl-34411080

ABSTRACT

OBJECTIVES: To assess the relationship between (a) chemotherapy and monoclonal antibody (mAb) treatments and (b) depressive symptoms and quality of life (QOL) in patients with breast cancer. SAMPLE & SETTING: 182 women with breast cancer in Spain who were undergoing chemotherapy with or without mAbs. METHODS & VARIABLES: An observational, cross-sectional study was carried out. The European Organisation for Research and Treatment of Cancer (EORTC) QOL Questionnaire-Core 30 and the EORTC QOL Questionnaire-Breast Cancer were used to assess QOL. Patients were screened for depressive symptoms using the Beck Depression Inventory-II. RESULTS: No relationship was found between the use of mAbs with chemotherapy and QOL, except for incidence of diarrhea. However, depressive symptoms had a negative and highly significant influence on the majority of the QOL parameters. IMPLICATIONS FOR NURSING: The presence of depressive symptoms negatively affects QOL. Used concurrently, mAbs and chemotherapy do not negatively influence QOL, but some adverse effects, such as diarrhea, are common.


Subject(s)
Breast Neoplasms , Quality of Life , Antibodies, Monoclonal/adverse effects , Breast Neoplasms/drug therapy , Cross-Sectional Studies , Depression/chemically induced , Female , Humans , Surveys and Questionnaires
18.
Psychooncology ; 30(11): 1894-1901, 2021 11.
Article in English | MEDLINE | ID: mdl-34197018

ABSTRACT

OBJECTIVE: Clinical guidelines recommend psychological screening in cancer patients. However, most scales cover many items and hamper detection. In addition, patients are generally referred from routine consultations. The specific objective of the present study was to develop and validate a tool, Anxiety, Depression, Coping (ADAF), to screen for anxiety and depression and assess coping in cancer patients. METHODS: Cross-sectional, multicenter study performed in the medical and radiotherapy-oncology services of five hospitals in Madrid and coordinated by the Medical Oncology Service of Hospital Clínico San Carlos (CEIC nº19/265-E). To determine psychometric properties, the ADAF screening questionnaire ADAF was administered. ADAF includes five items (1 related to anxiety symptoms, 2 related to depressive symptoms, 1 for helplessness coping, and 1 for avoidance coping). Hospital Anxiety and Depression Scale and Mini-Mental Adjustment to Cancer scale were used as the gold standards. Intraclass correlation coefficients were calculated and receiver operating characteristic (ROC) curves constructed. A p value of <0.05 was considered significant. RESULTS: A total of 186 patients completed the evaluation. The correlation coefficients were significant for all dimensions (anxiety, depression, helplessness coping, and avoidance coping) (p < 0.001). The statistical analysis of the ROC curves suggested that the cut-off point for screening was >2 points (3 in the case of depression), with a sensitivity and specificity between 62% and 90%, and an area under the curve above 0.8 for the first 4 items. CONCLUSIONS: ADAF screening has adequate reliability and good sensitivity and specificity. This instrument is useful and can be easily applied to identify emotional and coping problems in cancer patients.


Subject(s)
Depression , Neoplasms , Adaptation, Psychological , Anxiety/diagnosis , Anxiety/psychology , Cross-Sectional Studies , Depression/diagnosis , Depression/psychology , Early Detection of Cancer , Humans , Neoplasms/psychology , Psychiatric Status Rating Scales , Psychometrics/methods , Reproducibility of Results , Surveys and Questionnaires
20.
Epigenetics ; 15(12): 1386-1395, 2020 12.
Article in English | MEDLINE | ID: mdl-32573317

ABSTRACT

Although more and more children are born by Assisted Reproductive Technologies (ART), ART safety has not fully been demonstrated. Notably, ART could disturb the delicate step of implantation, and trigger placenta-related adverse outcomes with potential long-term effects, through disrupted epigenetic regulation. We have previously demonstrated that placental DNA methylation was significantly lower after IVF/ICSI than following natural conception at two differentially methylated regions (DMRs) associated with imprinted genes (IGs): H19/IGF2 and KCNQ1OT1. As histone modifications are critical for placental physiology, the aim of this study was to profile permissive and repressive histone marks in placenta biopsies to reveal a better understanding of the epigenetic changes in the context of ART. Utilizing chromatin immunoprecipitation (ChIP) coupled with quantitative PCR, permissive (H3K4me3, H3K4me2, and H3K9ac) and repressive (H3K9me3 and H3K9me2) post-translational histone modifications were quantified. The analyses revealed a significantly higher quantity of H3K4me2 precipitation in the IVF/ICSI group than in the natural conception group for H19/IGF2 and KCNQ1OT1 DMRs (P = 0.016 and 0.003, respectively). Conversely, the quantity of both repressive marks at H19/IGF2 and SNURF DMRs was significantly lower in the IVF/ICSI group than in the natural conception group (P = 0.011 and 0.027 for H19/IGF2; and P = 0.010 and 0.035 for SNURF). These novel findings highlight that DNA hypomethylation at imprinted DMRs following ART is linked with increased permissive/decreased repressive histone marks, altogether promoting a more permissive chromatin conformation. This concomitant change in epigenetic state at IGs at birth might be an important developmental event because of ART manipulations.


Subject(s)
DNA Methylation , Genomic Imprinting , Histone Code , Placenta/metabolism , Sperm Injections, Intracytoplasmic/adverse effects , Female , Histones/chemistry , Histones/metabolism , Humans , Insulin-Like Growth Factor II/genetics , Insulin-Like Growth Factor II/metabolism , Male , Potassium Channels, Voltage-Gated/genetics , Potassium Channels, Voltage-Gated/metabolism , Pregnancy
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