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Osteoporosis, and the consequences derived from it, such as fragility fractures, constitute a growing public health problem. Suffering from a fracture of this nature is the main risk factor for suffering a new fracture. It is documented that vertebral compression fractures lead to significant morbidity and mortality, in the short and long term, as well as other complications, such as sagittal imbalance and hyperkyphosis of the segment. However, we have not found documentation that analyzes the medium and long-term consequences of these injuries, assessing the type of treatment used, and the economic impact they represent. The purpose of this review is to analyze the main recent literature on the subject and make a breakdown of the consequences of these fractures in various spheres, such as economic, quality of life, sagittal balance and radiographic parameters, pain or mortality; as well as a brief analysis of epidemiology and natural history. Conclusion Osteoporotic fractures constitute an emerging problem, both in the medical and economic fields. The consequences and sequelae on the patient are multiple and although surgical options offer good long-term results, it is necessary to properly select the patient, through multidisciplinary teams, to try to minimize potential complications.
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BACKGROUND: Atopic dermatitis (AD) and allergic contact dermatitis (ACD) are inflammatory skin conditions whose association is not clearly defined. OBJECTIVES: To identify differences in ACD profile between patients with and without AD among those referred for patch testing. Additionally, to determine the prevalence of sensitisation to standard Spanish contact allergens in both groups. METHODS: We analysed two groups (AD and non-AD) within the Spanish Registry of Research in Contact Dermatitis and Cutaneous Allergy (REIDAC). Contact allergy, clinical relevance and epidemiological data were compared between them. RESULTS: A total of 5055 patients were included. Among them, 23% (1168) had a history or final diagnosis of AD. At least one positive reaction was seen in 468 (40%) of AD patients and 1864 (48%) of non-AD patients. In both groups, the most common positive reactions were to nickel sulphate, methylchloroisothiazolinone/methylisothiazolinone and cobalt chloride. Age-adjusted OR for sensitisation to nickel sulphate was 0.72 (95% CI: 0.61-0.86), indicating a decreased likelihood of sensitisation in AD patients compared to non-AD individuals. CONCLUSIONS: We did not find an increased presence of ACD in patients with AD referred for patch testing, exhibiting similar profiles to non-AD population, except for a negative relationship between AD and sensitisation to nickel sulphate.
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PURPOSE: The aim of this study was to determine the agreement between three observers with different levels of experience using the PSMA-RADS 2.0 criteria and the miTNM system for the interpretation of PET-PSMA with [18F]DCFPyL in males with prostate cancer. MATERIALS AND METHODS: PET-PSMA images from 114 prostate cancer patients were blindly reported twice by three different observers at intervals of 8 weeks. The evaluations were performed according to the molecular imaging TNM (miTNM) and PSMA-RADS 2.0 criteria. We used Fleiss' Kappa to analyse inter and intraobserver agreements. RESULTS: Moderate overall agreement was obtained in the assessment of the PET-PSMA results (Fleiss'kâ¯=â¯0.53; 95% CI 0.45-0.62; pâ¯<â¯0.001), with significant agreement in the miT, miN and miM reports. There was a substantial level of agreement in the reporting of prostatic disease and lymphatic involvement (Fleiss'kâ¯=â¯0.66 and 0.65), being lower than that observed in the reporting of metastatic disease (Fleiss'kâ¯=â¯0.86), especially in the M0 group (Fleiss'kâ¯=â¯0.99). Upon re-evaluation of the images, observer 1 had moderate overall agreement for miT (Fleiss'kâ¯=â¯0.51) and substantial agreement for miN and miM (Fleiss'k 0.75 and 0.63, respectively). CONCLUSIONS: The use of a structured scoring system such as PSMA-RADS 2.0, as well as the miTNM classification system in the interpretation of PET-PSMA images in prostate cancer patients, provides a highly reproducible report format. High levels of interobserver and intraobserver agreement are found, especially when ruling out disease, which supports its use in routine clinical practice.
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BACKGROUND: Oral health is a relevant component for overall health. Oral disease onset at an early age and may harm several health dimensions, especially among older people, and has been associated with frailty. OBJECTIVE: To evaluate associations between the Frailty Index (FI) and self-reported oral diseases among older, community-dwelling Japanese people. DESIGN: Cross-sectional and prospective analyses were performed. SETTING AND PARTICIPANTS: We analyzed data from 2,529 participants at the baseline and four-year follow-up of the Nihon University Japanese Longitudinal Study of Aging, which had a four-year follow-up. MEASUREMENTS: We used the self-reported number of teeth, self-reported satisfaction with dentures, and self-reported ability to chew hard food as independent variables. We computed an FI that included 40 deficits as the dependent variable. The FI score ranged from 0 to 1, with a higher score associated with adverse health outcomes and mortality. Considering a gamma distribution and controlling for age, gender, marital status, education, working status, and residence area, we fitted generalized linear models. RESULTS: We found that dissatisfied denture users had a 2.1% (95% CI 1.006-3.279) higher frailty score than non-denture users at the baseline and a 2.1% (95% CI 0.629-3.690) higher frailty score than non-denture users at the four-year follow-up. In the cross-sectional analysis, with each additional reported tooth at the baseline, the FI score was lower by 1.5% (95% CI -2.878 to -0.208) at the four-year follow-up. In both the cross-sectional and the prospective analyses, the FI scores increased as the ability to chew hard food decreased. CONCLUSIONS: Self-reported oral diseases are associated with the FI score cross-sectionally and prospectively. Identifying factors prospectively associated with frailty may improve strategies for the next generation of older people. Considering oral diseases may help clinicians personalize treatment plans for older people.
Subject(s)
Frailty , Mouth Diseases , Self Report , Humans , Male , Female , Aged , Japan/epidemiology , Frailty/epidemiology , Frailty/diagnosis , Cross-Sectional Studies , Follow-Up Studies , Prospective Studies , Mouth Diseases/epidemiology , Aged, 80 and over , Frail Elderly/statistics & numerical data , Oral Health/statistics & numerical data , Independent Living , Geriatric Assessment/methods , Longitudinal Studies , Dentures/statistics & numerical data , East Asian PeopleABSTRACT
Controlling the electronic and magnetic properties of two-dimensional (2D) materials is a key step to make new multifunctional candidates for practical applications. In this work, defects and doping with transition metals (TMs = V, Cr, Mn, and Fe) at Ge sublattices are proposed in order to develop novel features in the hexagonal germanium arsenide (GeAs) monolayer. The pristine GeAs monolayer is a non-magnetic indirect gap semiconductor with an energy gap of 1.20(1.82) eV as provided by PBE(HSE06)-based calculations. A single Ge vacancy metallizes the monolayer, preserving its non-magnetic nature. In contrast, significant magnetization with a total magnetic moment of 1.96 µ B is achieved by a pair of Ge vacancies. Herein, the computed band structures assert the half-metallic behavior of the defective system. Similarly, half-metallicity is also obtained by V, Mn, and Fe doping. Meanwhile, the Cr-doped GeAs monolayer is classified as a diluted magnetic semiconductor 2D system. In these cases, magnetic properties are produced mainly by TM-3d electrons with total magnetic moments between 2.00 and 4.00 µ B. Further, the effects of substituting a pair of Ge atoms with a pair of TM atoms (pTMGe systems) are also investigated. Results indicate the ferromagnetic half-metallicity of the pVGe system, meanwhile antiferromagnetic ordering is stable in the remaining cases. In all cases, TM impurities transfer charge to the host GeAs monolayer since they are surrounded by As atoms, which are more electronegative than dopant atoms. Results presented herein may introduce new 2D systems - made from the non-magnetic GeAs monolayer - for spintronic applications with suitable electronic and magnetic features controlled mainly by transition metals.
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ABSTRACT: A 65-year-old woman presented with unexplained weight loss, recurrent fever, and a dermatosis with painful nodules on the extremities. Biopsies showed focal lobular panniculitis with neutrophilic microgranulomas. Comprehensive investigations ruled out infection and hematologic and solid organ neoplasms. Laboratory results showed anti-Ro/SSA and anti-La/SSB antibody positivity, and elevated inflammatory markers. Dry mouth and eye were confirmed. The diagnosis of Sjögren syndrome with cutaneous panniculitis was established. Prednisone treatment with 30 mg/d resulted in remission of fever and pain improvement. This case emphasizes Sjögren syndrome as an autoimmune disease with multiple cutaneous manifestations and highlights its association with granulomatous panniculitis.
Subject(s)
Panniculitis , Sjogren's Syndrome , Humans , Female , Sjogren's Syndrome/complications , Sjogren's Syndrome/drug therapy , Aged , Panniculitis/pathology , Panniculitis/etiology , Prednisone/therapeutic use , Granuloma/pathology , Treatment Outcome , BiopsyABSTRACT
Developing new multifunctional two-dimensional (2D) materials with two or more functions has been one of the main tasks of materials scientists. In this work, defect engineering is explored to functionalize PtSSe monolayer with feature-rich electronic and magnetic properties. Pristine monolayer is a non-magnetic semiconductor 2D material with a band gap of 1.52(2.31) eV obtained from PBE(HSE06)-based calculations. Upon creating single Pt vacancy, the half-metallic property is induced in PtSSe monolayer with a total magnetic moment of 4.00 µ B. Herein, magnetism is originated mainly from S and Se atoms around the defect site. In contrast, single S and Se vacancies preserve the non-magnetic nature. However, the band gap suffers of considerable reduction of the order of 67.11% and 48.68%, respectively. The half-metallicity emerges also upon doping with alkali metals (Li and Na) with total magnetic moment of 1.00 µ B, while alkaline earth impurities (Be and Mg) make new diluted magnetic semiconductor materials from PtSSe monolayer with total magnetic moment of 2.00 µ B. In these cases, magnetic properties are produced mainly by Se atoms closest to the doping site. In addition, doping with P and As atoms at chalcogen sites is also investigated. Except for the half-metallic AsSe system (As doping at Se site), the diluted magnetic semiconductor behavior is obtained in the remaining cases. Spin density results indicate key role of the VA-group impurities in magnetizing PtSSe monolayer. In these cases, total magnetic moments between 0.99 and 1.00 µ B are obtained. Further Bader charge analysis implies the charge loser role of all impurities that transfer charge to the host monolayer. Results presented in this work may suggest promises of the defected and doped Janus PtSSe structures for optoelectronic and spintronic applications.
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INTRODUCTION: A survey conducted by the European Board of Ophthalmology (EBO) revealed significant differences in the surgical training of the ophthalmology residents in Europe, including a disparity between the sexes and a variation in the experience on cataract surgery (CC) between them. This study is about the Spanish sub-cohort of the survey, and its objective is to present and analyse the peculiarities of ophthalmology training in Spain within the European context, as well as discussing ways to harmonise and improve that training throughout the EU. METHODS: We analyse data of the Spanish participants in the EBO exams, defining subgroups by the Autonomous Communities existing in Spain. RESULTS: 93 of 135 requested participants (68.9%) responded. A 60.2% passed the EBO exam between 2021 and 2022, being mostly women (65.59%) aged 31 years old on average. The 91.4% were right-handed, coming from 13 of the 17 Spanish autonomous communities, although mostly from the Community of Valencia, Madrid and Catalonia. Respectively, 16.1%, 3.2% and 8.7% of the respondents said they have completed 10 or more training sessions on animal eyes, synthetic eyes and through the virtual reality simulator. This training was correlated with greater self-confidence in the management of a posterior capsular tear during surgery (p .025). All respondents manifested to have already performed stages of the CC. The average number of operations reported was 181.6 with regional disparities. A significant difference is observed between the sexes against women (-28.3%, p 0.03). DISCUSSION: Ophthalmologists in Spain, much more than other European countries, have greater opportunities for surgical training, with surgical procedures during the residency, that nearly triples those made by the others. Spanish women refer, like their European colleagues, to be in disadvantage in learning opportunities about cataract surgery. The Simulation Based Medical Education (SBME) allows to respond to the training deficit and complements the training on the patient. Although we demonstrate a significant correlation between the number of procedures carried out and self-confidence to operate simple cases, the SBME would be a complementary tool in self-confidence in front of a complication like capsular rupture. CONCLUSION: Spain massively adopts the model named by us "surgery for all", despite the underrepresentation of women in this area, emphasising a need for cultural change that the SBME could facilitate.
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OBJECTIVES: To determine the prevalence of suspected abuse of non-institutionalised elderly people and the associated variables. PATIENTS AND METHOD: Observational, descriptive, cross-sectional, multicentre study in patients aged 65 years or older, non-institutionalised, consecutively selected in primary care (PC). The EASI questionnaires (Suspected Elderly Abuse Index), the EAI questionnaire (Suspected Abuse Index in patients with cognitive impairment), the Barthel index, and the EUROQOL-5D questionnaire were used with patients, and the CASE questionnaire and the Zarit test were used with caregivers. Socio-demographic, health, and quality of life variables were analysed in all patients. RESULTS: Eight hundred four patients were included, mean age 78.9±7.9 years, 58.3% women. The prevalence of suspected abuse was 11.3% (95% CI: 9.1%-13.9%). Suspected abuse was more frequent in women than in men (14.4% vs. 7.1%; odds ratio (OR)=1.97; 95% CI=1.1-3.4; p=0.016) and in those who lived with two or more people compared to those who lived alone (18.4% vs. 7.3%; OR=2.42; 95% CI=1.1-5.0; p=0.017). Among older patients, the lower their dependency, the lower the prevalence of suspected abuse (30.0% in highly dependent vs. 8.7% in non-dependent: p-trend=0.006); and the better the perceived health status, the lower the prevalence of suspected abuse (29.6% in poor health status vs. 6.9% in optimal health status; p-trend=<0.001). Among caregivers, the prevalence of suspected abuse was 20.4% (95% CI=12.8%-28.0%). A trend of higher prevalence of suspected abuse could be observed with higher scores on the CASE questionnaire (56.3% at high risk and 9.6% with no risk of abuse; p-trend=0.007). In the case of the ZARIT questionnaire with scores below 47, the prevalence of suspected abuse was 9.1%, and for scores above 55, it was 52.6% (p-trend<0.001). CONCLUSIONS: The results of the PRESENCIA study show that approximately 1 in 10 patients aged ≥65 meet the criteria for suspected abuse. The probability of abuse increases in women, in patients with greater dependency and in patients with poorer perceived health status. Caregivers with greater overload and greater risk presented a greater suspicion of elder abuse.
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INTRODUCTION: Inguinal hernia is defined as a projection of an organ through the inguinal canal. This can be incarcerated as a consequence of continuous inflammation of the hernial sac, which will prevent its return, causing damage to the venous and lymphatic return of the viscera. The neutrophil-to-lymphocyte ratio (NLR) is an easily accessible inflammatory biomarker obtained from blood cell counts. Therefore, the objective was to determine if the NLR is useful as a predictor of intestinal resection in incarcerated inguinal hernias. MATERIAL AND METHOD: An observational, analytical, diagnostic test and retrospective study was carried out in a hospital in northern Peru from January 2013 to August 2019 in the Department of General Surgery and Emergency Surgery and Critical Care. Patients diagnosed with unilateral inguinal hernia with intestinal obstruction were included. For the relationship between the event and the exposure, it was analyzed using Chi square (χ2) and T-Student. The sensitivity, specificity, positive predictive value, negative predictive value of the NLR as well as the area under the ROC curve were found to determine the predictive accuracy. RESULTS: 161 patients with incarcerated inguinal hernia were studied: group I (20 patients with intestinal resection) and group II (141 patients without intestinal resection). The mean age in groups I and II were 69±16 and 60±17 years (p<0.05); the frequency in males was 70% in group I and 76% in group II (p>0.05). Intestinal obstruction and duration of incarceration >24 hours and the platelet-to-lymphocyte ratio demonstrated significant differences. With respect to NLR taking a cut-off point ≥6.5, a sensitivity of 75%, a specificity of 93.62%, a positive predictive value of 62.5% and a negative predictive value of 96.35% were observed; In addition, when analyzing with the ROC curve, a value of 5.14 was obtained as a predictor of intestinal resection with a sensitivity of 90% and a specificity of 84.4% (p<0.001). Therefore, the NLR >5.14 predicts intestinal resection in patients with incarcerated inguinal hernias with an area under the curve of 0.92 at the Belen Hospital of Trujillo. CONCLUSIONS: The neutrophil-to-lymphocyte ratio is useful for predicting intestinal resection with a diagnostic accuracy of 92%.
Subject(s)
Hernia, Inguinal , Intestinal Obstruction , Lymphocytes , Neutrophils , Humans , Male , Hernia, Inguinal/surgery , Hernia, Inguinal/diagnosis , Hernia, Inguinal/blood , Female , Middle Aged , Aged , Retrospective Studies , Intestinal Obstruction/etiology , Intestinal Obstruction/surgery , Intestinal Obstruction/diagnosis , Intestinal Obstruction/blood , Predictive Value of Tests , Lymphocyte Count , Peru , Herniorrhaphy/methods , Herniorrhaphy/adverse effects , Intestines/surgery , ROC CurveABSTRACT
INTRODUCTION AND OBJECTIVES: Healthcare organisations are highly complex entities that live with a high risk of instability. In order to minimise this instability, interactions and personal relationships play a major role and accordingly the figure of the leader gains full significance. The leadership style used can produce different reactions and lead to multiple outcomes, including job satisfaction. The aim of the present review is to correlate leadership style with job satisfaction in healthcare professionals. MATERIAL AND METHODS: A systematic review was carried out in BVS, Cochrane plus, CINAHL, ApaPsycinfo and Pubmed, selecting publications that mentioned leadership styles and job satisfaction in healthcare professionals. Publications search strategy were limited for the 5-10last years, full text availability and language of writing: English, French and Spanish. Review-type publications were excluded. Of the 1566 initial titles, 15 were selected for analysis. RESULTS AND CONCLUSIONS: The transformational style showed the highest number of positive correlations, followed by the authentic and transactional styles. On the other hand, the passive and laissez-faire styles showed a negative correlation regardless of the professional category to which they belonged. The results of this study provide a starting point for adopting effective leadership styles to optimise the recruitment and training processes of staff in management and coordination roles.
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Health Personnel , Job Satisfaction , Leadership , Humans , Health Personnel/psychologyABSTRACT
More than 99% of the mitochondrial proteome is encoded by the nucleus and requires refolding following import. Therefore, mitochondrial proteins require the coordinated action of molecular chaperones for their folding and activation. Several heat shock protein (Hsp) molecular chaperones, including members of the Hsp27, Hsp40/70, and Hsp90 families, as well as the chaperonin complex Hsp60/10 have an established role in mitochondrial protein import and folding. The "Chaperone Code" describes the regulation of chaperone activity by dynamic post-translational modifications; however, little is known about the post-translational regulation of mitochondrial chaperones. Dissecting the regulation of chaperone function is essential for understanding their differential regulation in pathogenic conditions and the potential development of efficacious therapeutic strategies. Here, we summarize the recent literature on post-translational regulation of mitochondrial chaperones, the consequences for mitochondrial function, and potential implications for disease.
Subject(s)
Mitochondria , Mitochondrial Proteins , Molecular Chaperones , Humans , Mitochondria/metabolism , Molecular Chaperones/metabolism , Mitochondrial Proteins/metabolism , Animals , Protein Processing, Post-Translational , Heat-Shock Proteins/metabolism , Protein FoldingABSTRACT
A 40-year-old man who attended the emergency department with a scotoma in right eye. He mentioned hearing difficulties and headache for months and he had sensory and motor deficits in the previous days. In the ophthalmic examination, the right eye had areas of arterial occlusion. MRI revealed hyperintense lesions. The patient was diagnosed with Susac syndrome. He was treated with systemic steroids, however, it was not enough to control the condition. Rituximab and intravenous immunoglobulins were added, which allowed the improvement of neurological symptoms, but the alteration of the visual field and the hearing defect did not recover. Early diagnosis of this pathology is essential, since delaying treatment can cause irreversible consequences. Sometimes it is difficult given the wide variety of symptoms and the course of the disease. Ocular manifestations may raise suspicion when the general symptoms are nonspecific.
Subject(s)
Susac Syndrome , Humans , Susac Syndrome/diagnosis , Susac Syndrome/drug therapy , Male , Adult , Immunoglobulins, Intravenous/therapeutic use , Magnetic Resonance Imaging , Rituximab/therapeutic use , Scotoma/etiology , Scotoma/diagnosisABSTRACT
Introducción Las miopatías genéticas constituyen un conjunto de enfermedades raras que impactan significativamente en la funcionalidad y la calidad de vida del paciente. Un diagnóstico temprano de las miopatías genéticas puede prevenir complicaciones futuras y proporcionar a las familias asesoramiento genético. A pesar del impacto sustancial de las miopatías genéticas en población adulta, la epidemiología global de estos trastornos está inadecuadamente abordada en la bibliografía.ObjetivosMejorar el entendimiento tanto de la epidemiología como de la genética de estos trastornos en la provincia de Alicante, situada en el sureste de España. Material y métodos. Entre 2020 y 2022, se llevó a cabo un estudio observacional prospectivo en el área de salud Alicante-Hospital General, que incluyó a pacientes de 16 años o más con sospecha de miopatías genéticas. Se recopilaron datos sociodemográficos, clínicos y genéticos. La fecha de referencia para el cálculo de la prevalencia se estableció el 31 de diciembre de 2022. Se utilizaron datos demográficos oficiales del área de salud para establecer la población en riesgo.ResultadosEn total, se identificó a 83 pacientes con miopatía genéticamente confirmada, lo que dio lugar a una prevalencia total de 29,59 casos por cada 100.000 habitantes. El rendimiento diagnóstico de las pruebas genéticas moleculares fue del 69,16%. Las miopatías genéticas más frecuentes incluyeron la distrofia miotónica (27,5%), las distrofinopatías (15,7%) y la distrofia facioescapulohumeral (15,7%).ConclusiónLa prevalencia de las miopatías genéticas puede variar considerablemente dependiendo de la región geográfica y la población estudiada. El análisis del rendimiento diagnóstico sugiere que los estudios genéticos deberían considerarse útiles en el diagnóstico de las miopatías genéticas. (AU)
Introduction. Genetic myopathies constitute a collection of rare diseases that significantly impact patient functionality and quality of life. Early diagnosis of genetic myopathies can prevent future complications and provide families with genetic counselling. Despite the substantial impact of genetic myopathies on the adult population, the global epidemiology of these disorders is inadequately addressed in the literature.Aims. To enhance understanding of both the epidemiology and genetics of these disorders within the province of Alicante, situated in southeastern Spain.Material and methods. Between 2020 and 2022, a prospective observational study was conducted at the Alicante Health Area-General Hospital, enrolling patients aged 16 years or older with suspected genetic myopathies. Sociodemographic, clinical, and genetic data were collected. The reference date for prevalence calculation was established as December 31, 2022. Official demographic data of the health area were used to set the population at risk.Results. In total, 83 patients were identified with confirmed genetically related myopathy, resulting in an overall prevalence of 29.59 cases per 100,000 inhabitants. The diagnostic yield for molecular genetic testing was found to be 69.16%. The most prevalent genetic myopathies identified included myotonic dystrophy (27.5%), dystrophinopathies (15.7%), and facioscapulohumeral dystrophy (15.7%).Conclusion. The prevalence of GMs can vary considerably depending on the geographical region and the studied population. The analysis of diagnostic yield suggests that genetic studies should be considered useful in the diagnosis of genetic myopathies. (AU)
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Humans , Male , Female , Adolescent , Young Adult , Adult , Middle Aged , Aged , Muscular Diseases , Muscular Diseases/congenital , Muscular Diseases/epidemiology , Cross-Sectional Studies , Spain/epidemiologyABSTRACT
Social media (SoMe) has witnessed remarkable growth and emerged as a dominant method of communication worldwide. Platforms such as Facebook, X (formerly Twitter), LinkedIn, Instagram, TikTok, and YouTube have become important tools of the digital native generation. In the field of medicine, particularly, cardiology, attitudes towards SoMe have shifted, and professionals increasingly utilize it to share scientific findings, network with experts, and enhance teaching and learning. Notably, SoMe is being leveraged for teaching purposes, including the sharing of challenging and intriguing cases. However, sharing patient data, including photos or images, online carries significant implications and risks, potentially compromising individual privacy both online and offline. Privacy and data protection are fundamental rights within European Union treaties, and the General Data Protection Regulation (GDPR) serves as the cornerstone of data protection legislation. The GDPR outlines crucial requirements, such as obtaining 'consent' and implementing 'anonymization', that must be met before sharing sensitive and patient-identifiable information. Additionally, it is vital to consider the patient's perspective and prioritize ethical and social considerations when addressing challenges associated with sharing patient information on SoMe platforms. Given the absence of a peer-review process and clear guidelines, we present an initial approach, a code of conduct, and recommendations for the ethical use of SoMe. In conclusion, this comprehensive review underscores the importance of a balanced approach that ensures patient privacy and upholds ethical standards while harnessing the immense potential of SoMe to advance cardiology practice and facilitate knowledge dissemination.
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During development, epithelia function as malleable substrates that undergo extensive remodeling to shape developing embryos. Optogenetic control of Rho signaling provides an avenue to investigate the mechanisms of epithelial morphogenesis, but transgenic optogenetic tools can be limited by variability in tool expression levels and deleterious effects of transgenic overexpression on development. Here, we use CRISPR/Cas9 to tag Drosophila RhoGEF2 and Cysts/Dp114RhoGEF with components of the iLID/SspB optogenetic heterodimer, permitting light-dependent control over endogenous protein activities. Using quantitative optogenetic perturbations, we uncover a dose-dependence of tissue furrow depth and bending behavior on RhoGEF recruitment, revealing mechanisms by which developing embryos can shape tissues into particular morphologies. We show that at the onset of gastrulation, furrows formed by cell lateral contraction are oriented and size-constrained by a stiff basal actomyosin layer. Our findings demonstrate the use of quantitative, 3D-patterned perturbations of cell contractility to precisely shape tissue structures and interrogate developmental mechanics.
Subject(s)
Anaphylaxis , Humans , Anaphylaxis/diagnosis , Anaphylaxis/etiology , Luminescence , Immunoglobulin EABSTRACT
Climate change and plastic pollution are likely the most relevant challenges for the environment in the 21st century. Developing cost-effective technologies for the bioconversion of methane (CH4) into polyhydroxyalkanoates (PHAs) could simultaneously mitigate CH4 emissions and boost the commercialization of biodegradable polymers. Despite the fact that the role of temperature, nitrogen deprivation, CH4:O2 ratio or micronutrients availability on the PHA accumulation capacity of methanotrophs has been carefully explored, there is still a need for optimization of the CH4-to-PHA bioconversion process prior to becoming a feasible platform in future biorefineries. In this study, the influence of different cultivation broth pH values (5.5, 7, 8.5 and 10) on bacterial biomass growth, CH4 bioconversion rate, PHA accumulation capacity and bacterial community structure was investigated in a stirred tank bioreactor under nitrogen deprivation conditions. Higher CH4 elimination rates were obtained at increasing pH, with a maximum value of 50.4 ± 2.7 g CH4·m-3·h-1 observed at pH 8.5. This was likely mediated by an increased ionic strength in the mineral medium, which enhanced the gas-liquid mass transfer. Interestingly, higher PHB accumulations were observed at decreasing pH, with the highest PHB contents recorded at a pH 5.5 (43.7 ± 3.4 %w·w-1). The strong selective pressure of low pH towards the growth of Type II methanotrophic bacteria could explain this finding. The genus Methylocystis increased its abundance from 34 % up to 85 and 90 % at pH 5.5 and 7, respectively. On the contrary, Methylocystis was less abundant in the community enriched at pH 8.5 (14 %). The accumulation of intracellular PHB as energy and carbon storage material allowed the maintenance of high CH4 biodegradation rates during 48 h after complete nitrogen deprivation. The results here obtained demonstrated for the first time a crucial and multifactorial role of pH on the bioconversion performance of CH4 into PHA.
Subject(s)
Methylocystaceae , Polyhydroxyalkanoates , Polyhydroxybutyrates , Carbon/metabolism , Methane/metabolism , Methylocystaceae/metabolism , Nitrogen/metabolism , Hydrogen-Ion ConcentrationABSTRACT
INTRODUCTION: Genetic myopathies constitute a collection of rare diseases that significantly impact patient functionality and quality of life. Early diagnosis of genetic myopathies can prevent future complications and provide families with genetic counselling. Despite the substantial impact of genetic myopathies on the adult population, the global epidemiology of these disorders is inadequately addressed in the literature. AIMS: To enhance understanding of both the epidemiology and genetics of these disorders within the province of Alicante, situated in southeastern Spain. MATERIAL AND METHODS: Between 2020 and 2022, a prospective observational study was conducted at the Alicante Health Area-General Hospital, enrolling patients aged 16 years or older with suspected genetic myopathies. Sociodemographic, clinical, and genetic data were collected. The reference date for prevalence calculation was established as December 31, 2022. Official demographic data of the health area were used to set the population at risk. RESULTS: In total, 83 patients were identified with confirmed genetically related myopathy, resulting in an overall prevalence of 29.59 cases per 100,000 inhabitants. The diagnostic yield for molecular genetic testing was found to be 69.16%. The most prevalent genetic myopathies identified included myotonic dystrophy (27.5%), dystrophinopathies (15.7%), and facioscapulohumeral dystrophy (15.7%). CONCLUSION: The prevalence of GMs can vary considerably depending on the geographical region and the studied population. The analysis of diagnostic yield suggests that genetic studies should be considered useful in the diagnosis of genetic myopathies.
TITLE: Epidemiología y caracterización molecular de las miopatías genéticas en adultos en una región del sureste de España.Introducción. Las miopatías genéticas constituyen un conjunto de enfermedades raras que impactan significativamente en la funcionalidad y la calidad de vida del paciente. Un diagnóstico temprano de las miopatías genéticas puede prevenir complicaciones futuras y proporcionar a las familias asesoramiento genético. A pesar del impacto sustancial de las miopatías genéticas en población adulta, la epidemiología global de estos trastornos está inadecuadamente abordada en la bibliografía. Objetivos. Mejorar el entendimiento tanto de la epidemiología como de la genética de estos trastornos en la provincia de Alicante, situada en el sureste de España. Material y métodos. Entre 2020 y 2022, se llevó a cabo un estudio observacional prospectivo en el área de salud Alicante-Hospital General, que incluyó a pacientes de 16 años o más con sospecha de miopatías genéticas. Se recopilaron datos sociodemográficos, clínicos y genéticos. La fecha de referencia para el cálculo de la prevalencia se estableció el 31 de diciembre de 2022. Se utilizaron datos demográficos oficiales del área de salud para establecer la población en riesgo. Resultados. En total, se identificó a 83 pacientes con miopatía genéticamente confirmada, lo que dio lugar a una prevalencia total de 29,59 casos por cada 100.000 habitantes. El rendimiento diagnóstico de las pruebas genéticas moleculares fue del 69,16%. Las miopatías genéticas más frecuentes incluyeron la distrofia miotónica (27,5%), las distrofinopatías (15,7%) y la distrofia facioescapulohumeral (15,7%). Conclusión. La prevalencia de las miopatías genéticas puede variar considerablemente dependiendo de la región geográfica y la población estudiada. El análisis del rendimiento diagnóstico sugiere que los estudios genéticos deberían considerarse útiles en el diagnóstico de las miopatías genéticas.