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1.
Article in English | MEDLINE | ID: mdl-38727660

ABSTRACT

BACKGROUND: Desmin (DES) pathogenic variants cause a small proportion of arrhythmogenic cardiomyopathy (ACM). Outcomes data on DES-related ACM are scarce. OBJECTIVES: This study sought to provide information on the clinical phenotype and outcomes of patients with ACM caused by pathogenic variants of the DES gene in a multicenter cohort. METHODS: We collected phenotypic and outcomes data from 16 families with DES-related ACM from 10 European centers. We assessed in vitro DES aggregates. Major cardiac events were compared to historical controls with lamin A/C truncating variant (LMNA-tv) and filament C truncating variant (FLNC-tv) ACM. RESULTS: Of 82 patients (54% males, median age: 36 years), 11 experienced sudden cardiac death (SCD) (n = 7) or heart failure death (HFd)/heart transplantation (HTx) (n = 4) before clinical evaluation. Among 68 survivors, 59 (86%) presented signs of cardiomyopathy, with left ventricular (LV) dominant (50%) or biventricular (34%) disease. Mean LV ejection fraction was 51% ± 13%; 36 of 53 had late gadolinium enhancement (ring-like pattern in 49%). During a median of 6.73 years (Q1-Q3: 3.55-9.52 years), the composite endpoint (sustained ventricular tachycardia, aborted SCD, implantable cardioverter-defibrillator therapy, SCD, HFd, and HTx) was achieved in 15 additional patients with HFd/HTx (n = 5) and SCD/aborted SCD/implantable cardioverter-defibrillator therapy/sustained ventricular tachycardia (n = 10). Male sex (P = 0.004), nonsustained ventricular tachycardia (P = 0.017) and LV ejection fraction ≤50% (P = 0.012) were associated with the composite endpoint. Males with DES variants had similar outcomes to historical FLNC-tv and LMNA-tv controls. However, females showed better outcomes than those with LMNA-tv. In vitro experiments showed the characteristic finding of DES aggregates in 7 of 12 variants. CONCLUSIONS: DES ACM is associated with poor outcomes which can be predicted with potentially successful treatments, underscoring the importance of familial evaluation and genetic studies to identify at risk individuals.

2.
Eur J Investig Health Psychol Educ ; 14(4): 913-928, 2024 Apr 02.
Article in English | MEDLINE | ID: mdl-38667814

ABSTRACT

Sensory processing sensitivity (SPS) is a personality trait that makes certain individuals excessively sensitive to stimuli. People carrying this trait are defined as Highly Sensitive People (HSP). The SPS trait is notably prevalent among nursing students and nurse staff. Although there are HSP diagnostic tools, there is little information about early detection. Therefore, the aim of this work was to develop a prediction model to identify HSP and provide an individualized nursing assessment. A total of 672 nursing students completed all the evaluations. In addition to the HSP diagnosis, emotional intelligence, communication skills, and conflict styles were evaluated. An interpretable machine learning model was trained to predict the SPS trait. We observed a 33% prevalence of HSP, which was higher in women and people with previous health training. HSP were characterized by greater emotional repair (p = 0.033), empathy (p = 0.030), respect (p = 0.038), and global communication skills (p = 0.036). Overall, sex and emotional intelligence dimensions are important to detect this trait, although personal characteristics should be considered. The present individualized prediction model could help to predict the presence of the SPS trait in nursing students, which may be useful in conducting intervention strategies to avoid the negative consequences and reinforce the positive ones of this trait.

3.
Facial Plast Surg ; 40(3): 287-293, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38198819

ABSTRACT

The nose has several important functions including inspiration, humidification of air, and filtering of allergens. The nose also has a major role in facial harmony as the central focal point. Patients will present to the rhinoplasty surgeon in an effort to fix the inability to breathe through the nose or correct a perceived nasal deformity in the shape of the nose. Choosing the optimal techniques to effectively change the nose requires a thorough understanding of nasal anatomy and nasal mechanics. Ultimately, a complete nasal evaluation is essential in identifying what corresponds to a patient's complaints and how those issues can be addressed surgically or perhaps nonsurgically. When the nose is divided into subunits, and a systematic nasal analysis is performed, one can be confident that all components of the nasal skeleton have been assessed.


Subject(s)
Nose , Rhinoplasty , Humans , Rhinoplasty/methods , Nose/anatomy & histology , Nose/abnormalities , Nose/surgery , Nasal Obstruction/surgery
4.
J Psychosom Res ; 176: 111554, 2024 01.
Article in English | MEDLINE | ID: mdl-37992571

ABSTRACT

OBJECTIVE: Individuals with psychosis present a greater prevalence of chronic lung diseases, including Chronic Obstructive Pulmonary Disease (COPD). These chronic respiratory diseases are preceded by early lung function alterations; such as preserved ratio impaired spirometry (PRISm) or normal spirometry but low diffusion capacity of the lung for carbon monoxide (DLCO). However, there is no previous evidence on these lung function alterations in psychosis. The aim of this study is to evaluate the risk of having spirometry and DLCO alterations in subjects with psychosis compared with a control group. METHODS: Cross-sectional study on a cohort of 170 individuals including 96 subjects with psychosis and 74 sex-age-and smoking habit matched healthy controls. All subjects were under 60 years-old, and without COPD or asthma. Respiratory function was evaluated through spirometry. Clinical characteristics and DLCO values were recorded. RESULTS: Patients with psychosis showed lower spirometry results, both in terms of absolute and percentage of Forced Vital Capacity (FVC) and Forced Expiratory Volume in one second (FEV1). Absolute and percentage levels of diffusion were also lower in patients with psychosis. The percentage of individuals with DLCO<80% was higher among patients with psychosis (75% vs. 40%, p < 0.001). And the prevalence of PRISm was higher among patients with psychosis (10.4% vs. 1.4%, p < 0.001). Multivariate logistic regression analysis indicated that psychosis was an independent predictor of DLCO<80% (OR 5.67, CI95% 1.86-17.27). CONCLUSION: Patients with psychosis and females had early alterations in lung function. These results suggest that early screening for lung disease should be encouraged in psychosis.


Subject(s)
Psychotic Disorders , Pulmonary Disease, Chronic Obstructive , Female , Humans , Middle Aged , Cross-Sectional Studies , Lung , Pulmonary Disease, Chronic Obstructive/complications , Pulmonary Disease, Chronic Obstructive/diagnosis , Pulmonary Disease, Chronic Obstructive/epidemiology , Spirometry , Forced Expiratory Volume , Vital Capacity , Psychotic Disorders/diagnosis , Psychotic Disorders/epidemiology
5.
Ther Adv Psychopharmacol ; 13: 20451253231220907, 2023.
Article in English | MEDLINE | ID: mdl-38152569

ABSTRACT

Background: Paliperidone palmitate 6-monthly (PP6M) is the first long-acting antipsychotic injectable (LAI) to allow for only two medication administrations per year, though there is presently limited insight into its effectiveness and potential added value in real clinical practice conditions. Objectives: To present our ongoing study and draw its preliminary data on patient characteristics initiating PP6M and adherence during the first year of treatment. Methods: The paliperidone 2 per year (P2Y) study is a 4-year, multicentre, prospective mirror-image pragmatic study taking place at over 20 different sites in Europe. The mirror period covers 2 years either side of the PP6M LAI initiation. Retrospective data for the previous 2 years are collected for each patient from the electronic health records. Prospective data are recorded at baseline, 6, 12, 18 and 24 months of drug administration and also cover information on concomitant psychiatric medication, relapses, hospital admissions, side effects, discontinuation and its reasons. Meanwhile, here we present preliminary data from the P2Y study at basal and 6-month period (first and second PP6M administration). Results: At the point of PP6M initiation, the most frequent diagnosis was schizophrenia (69%), the clinical global impression scale mean score was 3.5 (moderately markedly ill) and the rate of previous hospital admissions per patient and year was 0.21. PP6M was initiated after a median of 3-4 years on previous treatment: 146 (73%) from paliperidone palmitate 3-monthly, 37 (19%) from paliperidone palmitate 1-monthly and 17 (9%) from other antipsychotics. The mean dose of the first PP6M was 1098.9 mg. The retention rate at 6 months and 1 year of treatment on PP6M in our cohort was 94%. Conclusion: Patient and clinician preference for LAIs with longer dosing intervals was the main reason for PP6M initiation/switching resulting in high treatment persistence. Future data are needed to evaluate the full impact of PP6M in clinical practice.

6.
Biology (Basel) ; 12(11)2023 Nov 19.
Article in English | MEDLINE | ID: mdl-37998050

ABSTRACT

Biomass storage is an essential requirement in the supply chain of bio-refineries and power plants. This research aims to evaluate the influence of long-term outdoor storage (1 year) of baled rockrose (Cistus laurifolius L.) shrub biomass on biofuel's quality, pre-treatment processes and on combustion emissions in an industrial boiler. The raw material was obtained from different rockrose shrublands in north central Spain. A total of 233 tWM (tones of wet matter) of biomass were used to produce biofuels (30 mm of milled biomass and Ø 8 mm pellets) in the pre-treatment pilot plants at CEDER-CIEMAT. The combustion tests were conducted in an industrial moving grate boiler with a thermal power of 50 MWth, in a 17 MWe power plant. Outdoor storage improved some biofuel quality parameters, mainly the reduction in ash content, which allowed 30 mm of milled material to be classified as class I1 (ISO 17225-9:2022) and pellets as class I3 (ISO 17225-2-2021). No significant differences were observed in the total specific mass flow and energy consumption in the pre-treatment processes. The combustion tests had similar results, with the emissions being below the limits established in the directive (EU) 2015/2193. The results obtained indicated that the 1-year outdoor storage of rockrose-baled biomass, under Mediterranean conditions, was feasible for its subsequent use as biofuel.

7.
Article in English | MEDLINE | ID: mdl-37992811

ABSTRACT

BACKGROUND: Tobacco smoking has been described as the main cause of chronic obstructive pulmonary disease (COPD) and this habit is clearly more frequent among individuals with psychosis than in the general population, with rates reaching up to 60%. However, little attention has been focused on the association of COPD and psychosis. We aimed to explore the risk of presenting early lung function alterations in a group of individuals with psychosis. METHODS: Following an observational cross-sectional design we studied a cohort of individuals with established psychosis (N=128), and compared them with a sex, age, and smoking habit matched control group (N=79). We evaluated respiratory symptoms by means of mMRC, CAT and Dyspnea-12 scales. And lung function through spirometry tests. RESULTS: Individuals with psychosis presented more respiratory symptoms than controls. Similarly, we observed significant differences in the lung function tests between these two groups, where individuals with psychosis presented worse results in most of the spirometry mean values (FEV1 or forced expiratory volume in the first one second: 3.29L vs. 3.75L, p<0.001; forced vital capacity or FVC: 4.25L vs. 4.72L, p=0.002; and FEV1/FVC ratio: 0.78 vs. 0.80, p=0.052). Patients also presented worse values of lung diffusion, with lower diffusing capacity for carbon monoxide (DLCO) than controls (6.95 vs. 8.54mmol/min/kPa, p<0.001). CONCLUSIONS: The individuals with psychosis in our study presented greater respiratory symptoms and poorer lung function measured through spirometry. These signs have been described as early signs of COPD.

8.
Mol Metab ; 74: 101763, 2023 08.
Article in English | MEDLINE | ID: mdl-37364709

ABSTRACT

OBJECTIVE: Glucocorticoid (GC) excess contributes to the development of metabolic syndrome, defined by visceral obesity, abnormal glucose tolerance, and dyslipidemia. While it is accepted that loss of metabolic control is causative of cutaneous diseases, the systemic effects of epidermal dysfunction have received limited attention. Importantly, independent of GC blood levels, skin synthesis of these hormones can provide tissue-specific variations that may affect global homeostasis. We aimed to assess whether the epidermal-specific loss of the GC receptor (GR) had an impact on the dermal white adipose tissue (dWAT), a specialized fat depot functionally different from other fat pads, as well as on whole body homeostasis. METHODS: GR epidermal KO (GREKO) and control female mice were treated with oral corticosterone (CORT) for 4 weeks, a protocol inducing metabolic dysfunction. Metabolic parameters including body weight, visceral and hepatic fat accumulation, blood glucose and insulin levels, glucose tolerance tests upon fasting, and triglycerides levels, were determined. Systemic alterations of soluble factors with known roles in immunity and inflammation were also assessed by a multiplex antibody array system containing selected cytokines, chemokines, and growth factors. The levels of cutaneous GCs and the profile of skin-secreted factors were determined in tissue explants by ELISA and the multiplex array system. Morphometric studies quantitated changes in dWAT thickness and adipocyte size in both genotypes, basally and at the end of CORT treatment. The expression of adipocyte markers was assessed in purified dermal adipocytes in vehicle and CORT-treated GREKOvs controls. RESULTS: Despite similar circulating levels of GCs, GREKO mice were highly resistant to CORT-induced systemic metabolic anomalies including body weight gain, visceral and hepatic fat, hyperglycemia, insulinemia, and elevated levels of plasma triglycerides, leptin, FGF-21, PAI-1, and CCL11. GREKO mice featured constitutively enhanced levels of cutaneous GCs relative to controls at least partially due to keratinocyte-specific increased expression of the critical steroidogenic enzyme Cyp11b1. Also, the higher ratio of skin-secreted protective vs inflammatory adipokines in GREKOvs controls, correlated with higher capacity of adipogenic conversion in experiments using conditioned media from tissue explants. Following CORT treatment, relative to controls, GREKO mice featured reduced dWAT hyperplasia and adipocyte hypertrophy, with increased Adipoq and decreased Lipocalin 2 expression in purified dermal adipocytes. CONCLUSIONS: Overall data suggest that epidermal GR loss results in paracrine actions on dermal adipocytes as well as endocrine actions on key metabolic tissues that significantly improve the whole body metabolism in a mouse model of metabolic dysfunction.


Subject(s)
Corticosterone , Receptors, Glucocorticoid , Female , Animals , Mice , Corticosterone/metabolism , Receptors, Glucocorticoid/metabolism , Adipose Tissue/metabolism , Glucocorticoids/metabolism , Body Weight , Triglycerides/metabolism
10.
Biol Res Nurs ; 25(4): 615-626, 2023 10.
Article in English | MEDLINE | ID: mdl-37187022

ABSTRACT

BACKGROUND: Nursing home residences suffered a lockdown from the beginning of the COVID-19 pandemic. The present study prospectively evaluates the frailty, functional, and nutritional statuses of nursing home residents. METHODS: Three hundred and one residents from three nursing homes took part in the study. Frailty status was measured using the FRAIL scale. Functional status was evaluated using the Barthel Index. Additionally, Short Physical Performance Batter (SPPB), SARC-F, hand-grip strength, and gait speed were also evaluated. Nutritional status was determined using the mini nutritional assessment test (MNA) and several anthropometrical and biochemical markers. RESULTS: Mini Nutritional Assessment test scores decreased in 20% throughout the confinement (p < .001). Barthel index, SPPB and SARC-F scores also decreased, although to a lesser extent, reflecting a decrease in functional capacity. However, both anthropometric parameters, hand grip strength and gait speed, remained stable throughout confinement (p > .050 in all cases). Morning cortisol secretion significantly decreased by 40% from baseline to post-confinement. A significant reduction in daily cortisol variability was observed, which may suggest increased distress. Fifty-six residents died during the period of confinement (81.4% survival rate). Sex, FRAIL and Barthel Index scores were significant predictors of resident survival. CONCLUSION: After the first COVID-19 blockade, several alterations in residents' frailty markers were observed, which were small and potentially reversible. However, many of the residents were pre-frail after the lockdown. This fact highlights the need for preventive strategies to reduce the impact of future social and physical stressors on these vulnerable individuals.


Subject(s)
COVID-19 , Frailty , Humans , Aged , Prospective Studies , Hand Strength , Hydrocortisone , Pandemics , Geriatric Assessment , COVID-19/epidemiology , Communicable Disease Control , Nutritional Status , Nursing Homes , Frail Elderly
11.
Neurol Genet ; 9(3): e200073, 2023 Jun.
Article in English | MEDLINE | ID: mdl-37123986

ABSTRACT

Background and Objectives: The existence of clinical anticipation, congenital form, and parent-of-origin effect in myotonic dystrophy type 2 (DM2) remains uncertain. Here, we aimed at investigating whether there is a parent-of-origin effect on the age at the first DM2-related clinical manifestation. Methods: We identified patients with genetically confirmed DM2 with known parental inheritance from (1) the electronic medical records of our institutions and (2) a systematic review of the literature following the PRISMA 2020 guidelines and recorded their age at and type of first disease-related symptom. We also interrogated the Myotonic Dystrophy Foundation Family Registry (MDFFR) for patients with DM2 who completed a survey including questions about parental inheritance and age at the first medical problem which they related to their DM2 diagnosis. Results: A total of 26 patients with DM2 from 18 families were identified at our institutions as having maternal (n = 14) or paternal (n = 12) inheritance of the disease, whereas our systematic review of the literature rendered a total of 61 patients with DM2 from 41 families reported by 24 eligible articles as having maternal (n = 40) or paternal (n = 21) inheritance of the disease. Both cohorts were combined for downstream analyses. Up to 61% and 58% of patients had muscle-related symptoms as the first disease manifestation in maternally and paternally inherited DM2 subgroups, respectively. Four patients developed hypotonia at birth and/or delayed motor milestones early in life, and 7 had nonmuscular presentations (2 had cardiac events within the second decade of life and 5 had cataracts), all of them with maternal inheritance. A maternal inheritance was associated with an earlier (within the first 3 decades of life) age at symptom onset relative to a paternal inheritance in this combined cohort, and this association was independent of the patient's sex (OR [95% CI] = 4.245 [1.429-13.820], p = 0.0117). However, this association was not observed in the MDFFR DM2 cohort (n = 127), possibly because age at onset was self-reported, and the information about the type of first symptom or medical problem that patients related to DM2 was lacking. Discussion: A maternal inheritance may increase the risk of an early DM2 onset and of cataracts and cardiovascular events as first DM2 manifestations.

12.
Heart Lung Circ ; 32(7): 790-797, 2023 Jul.
Article in English | MEDLINE | ID: mdl-37032191

ABSTRACT

Over the last three decades, the genetic basis of various inherited arrhythmia syndromes has been elucidated, providing key insights into cardiomyocyte biology and various regulatory pathways associated with cellular excitation, contraction, and repolarisation. As varying techniques to manipulate genetic sequence, gene expression, and different cellular pathways have become increasingly defined and understood, the potential to apply various gene-based therapies to inherited arrhythmia has been explored. The promise of gene therapy has generated significant interest in the medical and lay press, providing hope for sufferers of seemingly incurable disorders to imagine a future without repeated medical intervention, and, in the case of various cardiac disorders, without the risk of sudden death. In this review, we focus on catecholaminergic polymorphic ventricular tachycardia (CPVT), discussing the clinical manifestations, genetic basis, and molecular biology, together with current avenues of research related to gene therapy.


Subject(s)
Ryanodine Receptor Calcium Release Channel , Tachycardia, Ventricular , Humans , Ryanodine Receptor Calcium Release Channel/genetics , Tachycardia, Ventricular/genetics , Tachycardia, Ventricular/therapy , Genetic Therapy , Myocytes, Cardiac/metabolism , Mutation
13.
Healthcare (Basel) ; 11(8)2023 Apr 18.
Article in English | MEDLINE | ID: mdl-37107991

ABSTRACT

Adolescent dating violence has become a public health problem because of the associated high morbidity and mortality rates. Despite social awareness about dating violence, the high justification of violence among adolescents is one of the main risk factors for both perpetration and victimisation. Therefore, the objective of the present work was to evaluate the effectiveness of an educational intervention in reducing the justification of violence in adolescent dating. A quasi-experimental, longitudinal, prospective study with a control group was conducted. The study was carried out in six different schools in the Region of Murcia (Spain), and the participants were 854 students aged 14-18 years. The educational intervention was focused on reducing the justification of adolescent dating violence and consisted of 9 weekly 1 h group sessions. The Justification of Verbal/Coercive Tactics Scale (JVCT) and the Attitudes About Aggression in Dating Situations (AADS) survey were administered at baseline and at the end of the intervention in order to determine the justification of psychological and physical violence, respectively. At baseline, the justification of physical violence was at a medium-to-high level in boys (76.8%) and girls (56.7%), whereas psychological violence was much less justified. Concretely, female psychological violence was justified by 19.5% boys and 16.7% girls, while male violence was justified by 19.0% boys and 17.8% girls. After the educational intervention, a significant decrease in physical violence justification, especially in the AADS dimension of female aggression, was observed. The effect of the intervention was especially evident in psychological violence justification: a statistically significant difference was observed in the JVCT scores of boys (-6.4 and 1.3 points in the intervention and control groups, respectively; p = 0.031), but not of girls (p = 0.594). In conclusion, the educational intervention was adequate to reduce the justification of dating violence among the participants. It may provide adolescents with the skills and resources necessary to confront and resolve conflicts in relationships in a non-violent manner.

14.
J Clin Med ; 12(5)2023 Mar 01.
Article in English | MEDLINE | ID: mdl-36902726

ABSTRACT

Myotonic dystrophy (DM) is the most common muscular dystrophy in adults. Dominantly inherited CTG and CCTG repeat expansions in DMPK and CNBP genes cause DM type 1 (DM1) and 2 (DM2), respectively. These genetic defects lead to the abnormal splicing of different mRNA transcripts, which are thought to be responsible for the multiorgan involvement of these diseases. In ours and others' experience, cancer frequency in patients with DM appears to be higher than in the general population or non-DM muscular dystrophy cohorts. There are no specific guidelines regarding malignancy screening in these patients, and the general consensus is that they should undergo the same cancer screening as the general population. Here, we review the main studies that investigated cancer risk (and cancer type) in DM cohorts and those that researched potential molecular mechanisms accounting for DM carcinogenesis. We propose some evaluations to be considered as malignancy screening in patients with DM, and we discuss DM susceptibility to general anesthesia and sedatives, which are often needed for the management of cancer. This review underscores the importance of monitoring the adherence of patients with DM to malignancy screenings and the need to design studies that determine whether they would benefit from a more intensified cancer screening than the general population.

15.
Article in English | MEDLINE | ID: mdl-36981606

ABSTRACT

Publishing in JCR and SJR journals has become crucial for curricular development. Results from nursing investigations "compete" for publication in journals which are not specific to the field of care, affecting the academic development of these investigators. This phenomenon may lead to an ongoing adverse effect on nursing researchers and academics engaged in research in nursing care. The aim of this study was to evaluate habits regarding scientific literature consulting, the transfer of published material, and the citation of nursing investigations. A cross-sectional descriptive study by means of questionnaires was carried out, focusing on both Spanish and Portuguese nurses. The findings of the study reveal the following reasons for reading the scientific literature: that the language was understood; for learning and applying what was learnt; that the journal was of open access; for elaborating protocols and work procedures; and that the journal was indexed in scientific databases and in nursing databases. The reasons for reading, using, and publishing in journals were related to knowledge of the language and the associated usefulness of learning and applying knowledge. Creating a specific index of research publications in nursing will have a positive effect on the scientific production of caring methodologies.


Subject(s)
Periodicals as Topic , Students, Nursing , Humans , Publishing , Cross-Sectional Studies , Habits
16.
Article in English | MEDLINE | ID: mdl-36981839

ABSTRACT

AIM: The study aimed to identify and compare aspects of the different Spanish regulations on the minimum conditions that nursing homes must meet and to compare whether these requirements significantly affect the price of a nursing home place in each region. METHODS: We analyzed and compared the 17 regional regulations that must be met by nursing homes in terms of equipment and social and healthcare staff and combined this information with regional information concerning the price and coverage of public and subsidized places in nursing homes. RESULTS: The study revealed significant regional inequality in physical facilities and human resources. However, the number of regulatory measures referring to the mandatory availability of physical space or specific material resources was not positively correlated with an increase in the price of a place in a public or subsidized nursing home. CONCLUSIONS: No unified regulations throughout Spain regulate the aspects that residential centers must comply with. There is a need to move towards a person-centered approach, providing an environment as close to home as possible. The regulation of minimum standards to be met by all nursing homes at the national level should not significantly impact prices.


Subject(s)
Delivery of Health Care , Nursing Homes , Humans , Aged , Spain
17.
Muscle Nerve ; 68(2): 142-148, 2023 08.
Article in English | MEDLINE | ID: mdl-36790141

ABSTRACT

INTRODUCTION/AIMS: Myotonic dystrophies (DMs) are autosomal dominant diseases in which expression of a mutant expanded repeat mRNA leads to abnormal splicing of downstream effector genes thought to be responsible for their multisystem involvement. Cancer risk and cancer-related deaths are increased in DM patients relative to the general population. We aimed at determining the frequency and type of cancers in both DM1 and DM2 vs a non-DM muscular dystrophy cohort. METHODS: A retrospective, cross-sectional study was carried out on patients with genetically confirmed DM1, DM2, facioscapulohumeral muscular dystrophy (FSHD), and oculopharyngeal muscular dystrophy (OPMD) at our institutions from 2000 to 2020. RESULTS: One hundred eighty-five DM1, 67 DM2, 187 FSHD, and 109 OPMD patients were included. Relative to non-DM, DM patients had an increased cancer risk that was independent of age and sex. Specifically, an increased risk of sex-related (ovarian) and non-sex-related (non-melanoma skin, urological, and hematological) cancers was observed in DM1 and DM2, respectively. The length of CTG repeat expansion was not associated with cancer occurrence in the DM1 group. DISCUSSION: In addition to current consensus-based care recommendations, our findings prompt consideration of screening for skin, urological, and hematological cancers in DM2 patients, and screening of ovarian malignancies in DM1 female patients.


Subject(s)
Melanoma , Muscular Dystrophy, Facioscapulohumeral , Myotonic Dystrophy , Humans , Female , Myotonic Dystrophy/complications , Myotonic Dystrophy/epidemiology , Myotonic Dystrophy/genetics , Cross-Sectional Studies , Retrospective Studies
18.
J Craniofac Surg ; 34(4): 1278-1282, 2023 Jun 01.
Article in English | MEDLINE | ID: mdl-36727677

ABSTRACT

Gender-affirming facial surgery is a common intervention for transgender patients because of its ability to decrease the frequency of misgendering. Many anatomic targets can be addressed, but the mandible is the primary aspect of the lower third of the face that is manipulated during these procedures. This study's objective is to quantify the differences in cephalometric measurements between male and female mandibles on maxillofacial imaging, with the goal of identifying surgical targets for gender affirmation. A nonrandomized, retrospective, single-institution, case-control study of 387 patients who underwent maxillofacial computed tomography during 2017-2020 was performed. After excluding patients with imaging that did not capture the entire head or had deforming pathology of the face, a total of 113 patients were included. Cephalometric measurements that corresponded to areas reported by patients as sources of dysphoria were selected for analysis. These included mandibular width, ramus height, lateral flare, masseter volume, total face height, and the values of the mandibular angles in degrees. The relationship of masseter volume to the other measurements was also characterized. Significantly greater masseter volume was seen in males compared with females, and a greater masseter thickness was also seen in males. The mandibular angle was more acute in males than females. Aggregate analysis of muscle volume and thickness was positively correlated with ramus height, lateral flare, and mandibular width. Ramus, mental, and total facial height correlated directly with patient height in males but not in females. These data provide a normative baseline for planning lower facial gender-affirming surgery.


Subject(s)
Sex Reassignment Surgery , Humans , Male , Female , Retrospective Studies , Case-Control Studies , Mandible/diagnostic imaging , Mandible/surgery , Mandible/pathology , Cephalometry/methods
19.
BMC Geriatr ; 23(1): 71, 2023 02 03.
Article in English | MEDLINE | ID: mdl-36737683

ABSTRACT

BACKGROUND: Previous works have observed an increase of depression and other psychological disorders on nursing home residents as a consequence of coronavirus disease 2019 (COVID-19) lockdown; however, there are few studies that have performed a comprehensive evaluation of all people involved in nursing homes environment. The objective of the work was to analyse the impact of lockdown on psychosocial factors of nursing home residents, relatives and clinical staff and how these variables have influenced residents' survival. METHODS: A prospective study was designed. Evaluations were performed at three different times: a) at the beginning of Spanish confinement, in March 2020; b) just before the second wave of the pandemic, with relaxation of security measures but in lockdown, and c) in January-February 2021, at the end of the second wave, when visits were already allowed. The study was conducted on three different nursing homes. Three hundred and one residents, 119 clinical staff and 51 relatives took part in the study. Anxiety and depression were evaluated in all participants. A scale on the meaning of suffering was also performed. In addition, burnout status was also determined in the clinical staff. RESULTS: All participants showed lower depression during lockdown, while at the beginning and at the end of the confinement, these values were significantly increased. In residents, these changes were dependent of cognitive status (p = 0.012). Anxiety was significantly higher in residents. The evolution of anxiety was similar than with depression, with lower values during confinement, although clinical staff showed higher anxiety levels at the beginning. The feeling of suffering was significantly lower in the clinical staff than in resident and relative groups. Residents' survival was dependent of cognitive status (p = 0.018) and voluntary confinement (p < 0.001). CONCLUSIONS: During the first COVID-19 lockdown, psychological wellbeing of residents cared in nursing homes, their relatives and staff did not seem to be seriously affected. Previous mental health in relatives and staff together with a resilient approach to the adversity might partly be protecting factors. The lack of consequences on residents' anxiety, depression and perception of social support may reflect the special attention and care they received. Finally, as in the current study only data of the first two COVID-19 waves were analysed, its findings might be partly generalized to all the pandemic.


Subject(s)
COVID-19 , Mental Disorders , Humans , COVID-19/epidemiology , Prospective Studies , Communicable Disease Control , Nursing Homes
20.
PLoS One ; 18(1): e0280132, 2023.
Article in English | MEDLINE | ID: mdl-36607959

ABSTRACT

This study is aimed at describing a protocol for a systematic review and meta-analysis to assess the effect of nontechnical skills training on the acquisition of knowledge, skills or attitudes, and changes in behavior at the workplace, of healthcare professionals working in intensive care units (ICUs), as well as the effect on outcomes at an organizational level. We will search for original studies in the PubMed/Medline, Scopus, Web of Science, Science Direct, EMBASE and PsycINFO databases. Studies with a clinical trial or quasi-experimental design will be included. Two reviewers will independently screen and assess the included studies, with any disagreements being resolved by a third reviewer. We will summarize the findings using a narrative approach and, if possible, conduct a quantitative synthesis (meta-analysis). We will conduct the protocol following the Preferred Reporting Items for Systematic Review and Meta-Analyses Protocols (PRISMA-P) guidelines. The review will summarize the current evidence on nontechnical skills training in ICUs, examining satisfaction with the training program, improvements in knowledge about nontechnical skills and the adoption of safety behaviors, as well as improvement in outcomes for the organization, such as mortality rates, length of stay and cost indicators. We expect that the systematic review could indicate effective strategies for training ICU professionals in nontechnical skills and also determine whether these strategies really improve the safety culture and professional knowledge and behaviors, as well as patient outcomes and safety.


Subject(s)
Health Personnel , Intensive Care Units , Humans , Systematic Reviews as Topic , Meta-Analysis as Topic , Health Personnel/education , Attitude
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