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1.
Cureus ; 16(7): e63551, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-39087164

RESUMO

Introduction and methodology This study aims to give feedback on the Basic Course in Biomedical Research (BCBR) program, an initiative of the National Medical Council (NMC) in collaboration with the National Institute of Epidemiology (ICMR-NIE) using the SWAYAM ("Study Webs of Active-Learning for Young Aspiring Minds") portal. The objectives of the study areto evaluate the usefulness of BCBR and the content and conduct of the BCBR program using a questionnaire among medical postgraduates and teachers. The study design used was a cross-sectional study and collected data from 392 participants who completed the BCBR program. A validated questionnaire was utilized to gather information on participant demographics, reasons for enrolment, satisfaction with course material, assignments, technical issues during exams, and perceived usefulness of the course. Results The study found a predominance of postgraduate students among participants (65.31%), reflecting their inclination towards research. Primary reasons for enrolment included institutional requirements and eligibility criteria to appear for the final postgraduate examination. Most participants utilized both videos and lecture hand-outs. This course facilitated its participants to improve their ability to conduct research by 89.03%. Feedback suggested a need for improvement in course content, particularly in simplifying statistical concepts and incorporating more interactive sessions and practical demonstrations. Conclusion The findings highlight the effectiveness of the BCBR program to up-skill the ability of participants to perform research. Overall, the study offers valuable feedback about the BCBR course.

2.
Cult Health Sex ; : 1-16, 2024 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-39087760

RESUMO

This article explores the sexual subjectivity of women of post-reproductive age who seek partners on dating apps. The existing literature highlights the sexual subjectivity and agency of older women as contested and not sufficiently investigated. Even less research has been conducted on changes in the sexual subjectivity of women born in the USSR in the 1960s, with the liberalisation of sexual behaviour. The study is based on 45 interviews with women aged 55 years and over, who were born in the USSR and who now live in Israel, Finland and Russia. In the article, we examine sexual subjectivity as presented in the interviews from a life course perspective. We explain theoretically and empirically how changes in sexual subjectivity are expressed in the light of age and socio-cultural context constraints. Three life stories highlight the accumulation of experience and turning points, such as divorce and migration. They illustrate very different pathways in changing sexual subjectivity, yet all contain three Leitmotifs: desire, security and caring. The expression of post-reproductive female desire can be related to the need to feel secure and enjoy mutual care in sexual relationships. We show that these Leitmotifs shape and are shaped by women's identifications as both sexual objects and subjects, and explore how they relate to different sexual cultures and variations in the socio-sexual positioning of women in Israel, Finland, and Russia.

3.
Cureus ; 16(7): e63705, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-39092350

RESUMO

Anomalous coronary artery is a rare but potentially life-threatening alteration in the coronary vascular system that is related to an increased risk of myocardial ischemia, ventricular arrhythmias, heart failure, and sudden cardiac death (SCD). Here, we present the case of a young male who presented to the hospital after a witnessed sudden cardiac arrest. Bystander cardiopulmonary resuscitation was started immediately, and normal sinus rhythm was achieved after electrical cardioversion three times. He was admitted to the ICU for further care upon admission. A CT of the chest showed a potential vascular structure in between the aorta and the pulmonary trunk. He underwent cardiac catheterization, which identified minimal coronary artery disease with the anomalous takeoff of the right coronary artery from the left coronary cusp. A cardiac CT scan obtained also showed an anomalous right coronary artery (ARCA) with an inter-arterial course. After explaining available treatment options and obtaining informed consent, a surgical correction by cardiothoracic surgery was performed using the coronary artery bypass graft technique. The patient recovered well after the surgery and was discharged home. After two years of follow-up, he continued to live life normally without any symptoms. Early and accurate diagnosis of an anomalous coronary artery is imperative for timely intervention, as malignant coronary artery diseases can often have a catastrophic presentation with acute coronary syndromes, myocardial infarction, or SCD. We present here a case of successful diagnosis of ARCA and its prompt surgical correction using coronary artery bypass grafting technique in a young adult. Despite the availability of various other treatment options, our case underscores coronary artery bypass grafting as a viable choice for individuals with anomalous coronary arteries, particularly in urgent situations.

4.
Health Informatics J ; 30(3): 14604582241260643, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39048926

RESUMO

Background: As healthcare depends on health information technology, there is a growing need for Health Informatics competencies in daily practice. This review aimed to explore how the teaching of education in HI has been arranged. 28 publications, published in English between 2016 and 2020 and obtained from selected bibliographic databases, were reviewed. The data was analyzed using deductive content analysis with the following pre-formulated topics: target audience, course content and learning arrangements. The results highlight three key competencies: documentation and communication, management, and understanding of health information technology. It underlines a blended teaching method to improve the competencies of healthcare professionals, graduates, undergraduates, and suggests adding active interactions, multi-professional interactions, and hands-on skills. This study highlights the importance of adapting to changes in healthcare, improving HI competencies in healthcare, and fostering positive digital experiences. It underlined the need for practical training, in theory and hands-on sessions, including key competencies in documentation and communication, management and health information systems.


Assuntos
Informática Médica , Humanos , Informática Médica/educação , Informática Médica/métodos , Currículo/tendências , Ensino/normas , Competência Profissional/estatística & dados numéricos , Competência Profissional/normas , Aprendizagem
5.
Stud Health Technol Inform ; 315: 205-209, 2024 Jul 24.
Artigo em Inglês | MEDLINE | ID: mdl-39049254

RESUMO

The disruptive effect and lasting implications of generative artificial intelligence ("Gen AI") tools for higher education are yet unknown. ChatGPT 3.5 was released in November 2022 and soon had over 100 million users. This public software release triggered a global Gen AI race among technology industry giants. Educators in higher education were unprepared for this seismic shift. For the Fall 2023 term, we revised two graduate courses in nursing informatics and data science using generative AI to anticipate broad student awareness of these tools. The aim of this report is to present two different examples of course component evaluation using publicly available Gen AI tools to inform course component revisions. This effort was undertaken to "proof" assignments against inappropriate use of Gen AI, revise assignments to incorporate use of Gen AI tools, and inform course policies about appropriate use of Gen AI for course work.


Assuntos
Inteligência Artificial , Currículo , Ciência de Dados , Informática em Enfermagem , Informática em Enfermagem/educação , Educação de Pós-Graduação em Enfermagem
6.
Stud Health Technol Inform ; 315: 631-632, 2024 Jul 24.
Artigo em Inglês | MEDLINE | ID: mdl-39049356

RESUMO

The aim of this paper is to explore how nursing undergraduates perceive a nursing informatics (NI) course. Between 7 and 14 September 2023, a survey was conducted with 51 nursing undergraduates who enrolled in 2021. A structured and open-ended questionnaire was used to explore their perceptions of the course. A total of 90.2% (46/51) of the students completed the survey. Of the respondents, 69.6% (32/46) were unaware of NI, while 30.4% (14/46) were aware of it. Furthermore, 93.5% (43/46) of the respondents supported the introduction of a nursing informatics course. The results of this study will guide the development of NI curricula.


Assuntos
Currículo , Informática em Enfermagem , Estudantes de Enfermagem , Informática em Enfermagem/educação , Inquéritos e Questionários , Humanos , Feminino , Adulto Jovem , Masculino , Bacharelado em Enfermagem , Atitude do Pessoal de Saúde , Adulto , República da Coreia , Atitude Frente aos Computadores
7.
Stud Health Technol Inform ; 315: 629-630, 2024 Jul 24.
Artigo em Inglês | MEDLINE | ID: mdl-39049355

RESUMO

This study aimed to evaluate the effectiveness of a nursing informatics continuing education course and nurses' perceptions of it. This study investigates the evaluation and satisfaction of 103 nurses who attended the course on 10-11 June 2023. The survey was divided into two parts: the first part focused on the evaluation of teaching and the second part focused on the evaluation of the course. The first part contained 7 structured questions and 1 open-ended question, while the second part contained 11 structured questions. The results show a high level of satisfaction, with the teaching receiving a score of 9.9 out of 10. 95% of the participants were "very satisfied" and 5% were "satisfied".


Assuntos
Currículo , Educação Continuada em Enfermagem , Informática em Enfermagem , Informática em Enfermagem/educação , Atitude do Pessoal de Saúde , Humanos , Avaliação de Programas e Projetos de Saúde , Inquéritos e Questionários , Avaliação Educacional
8.
Neuropsychiatr Dis Treat ; 20: 1409-1419, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39049937

RESUMO

Objective: Anxiety disorder (AD) is a common disabling disease. The prolonged disease course may lead to impaired cognitive performance, brain function, and a bad prognosis. Few studies have examined the effect of disease course on brain function by electroencephalogram (EEG). Methods: Resting-state EEG analysis was performed in 34 AD patients. The 34 patients with AD were divided into two groups according to the duration of their illness: anxious state (AS) and generalized anxiety disorder (GAD). Then, EEG features, including univariate power spectral density (PSD), fuzzy entropy (FE), and multivariable functional connectivity (FC), were extracted and compared between AS and GAD. These features were evaluated by three previously validated machine learning methods to test the accuracy of classification in AS and GAD. Results: Significant decreased PSD and FE in GAD were detected compared with AS, especially in the Alpha 2 band. In addition, FC analysis indicated that GAD patients' connection between the left and right hemispheres decreased. Based on machine learning, AS and GAD are classified on a six-month criterion with the highest classification accuracy of up to 0.99 ± 0.0015. Conclusion: The brain function of patients is more severely impaired in AD patients with longer illness duration. Resting-state EEG demonstrated to be a promising examination in the classification in GAD and AS using machine learning methods with better classification accuracy.

9.
Child Maltreat ; : 10775595241268194, 2024 Jul 25.
Artigo em Inglês | MEDLINE | ID: mdl-39053142

RESUMO

The power of stories shared by young people in foster care is well-documented. Largely left unexplored is a story of foster care that is told within a fuller context of the life course. Using narrative and life history methods, this study sought to retrospectively identify and connect life experiences in histories of young people and explore how systems are portrayed. Twelve adults formerly in foster care completed three interviews each and nominated six professionals from foster care for an interview. A three-phase analytical process identified and displayed themes across six developmental stages. Results suggest that life stories contained adversities that were: (1) intergenerational, (2) chronic, (3) complex, and (4) structural. The participants intentionally acted to try to mitigate adversities by accessing opportunities for prosocial pathways. These exploratory findings challenge child welfare policy and practice to attend to young people's life stories and their conceptions of systems that advance well-being.

10.
Cureus ; 16(6): e63148, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-39055426

RESUMO

This case report presents two cases of differentiated intramucosal gastric cancer in the antrum. Both patients reported no history of Helicobacter pylori eradication therapy, and endoscopy and diagnostic tests indicated no H. pylori infection. Case 1 is a female patient in her 70s. Esophagoduodenogastroscopy (EGD) detected a depressed lesion. Adenocarcinoma was suspected; thus, endoscopic submucosal dissection (ESD) was performed to resect the lesion. The histological result was well-differentiated tubular adenocarcinoma, which predominantly demonstrated an intestinal mucin phenotype. The existence of a small elevated lesion in the same location was confirmed by reviewing the previous endoscopic record 52 months earlier. Case 2 is a male patient in his 60s in whom screening EGD detected an elevated lesion. The biopsy indicated gastric adenoma, and ESD was performed. The histological diagnosis was well-to-moderately differentiated tubular adenocarcinoma with a pure gastric phenotype. These results indicate that H. pylori-negative differentiated gastric carcinomas in the antrum occur as small elevated lesions that may gradually progress to a depressed form during a relatively long clinical course.

11.
Int J Transgend Health ; 25(3): 549-572, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39055626

RESUMO

Background: Research into the identity development of trans people has been emerging, but there is still a need for further study. While significant processes for identity construction take place during late adolescence and early adulthood, it is important to understand which milestones are associated with the trajectories of gender identity (GI) development. Aims: The present study aimed at exploring the gender identity (GI) developmental trajectories of young Portuguese trans people and the processes associated with them. Methods: Interviews were conducted with sixteen young people aged between 16 and 26, recruited through LGBTI+ formal associations and informal online groups, as well as through psychology and sexology consultations. The interviews were conducted face-to-face and online and were analyzed through thematic analysis, which aims to identify, analyze and report patterns in a qualitative data series. Results: Six themes were identified and linked to developmental milestones. These were related to: (1) Discomfort in relation to the gender assigned at birth and its social roles; (2) Body discomfort; (3) Discovery of trans identities; (4) Disclosure of GI; (5) Perceived support; (6) Authentic living of GI. Linked to these themes, four sub-themes were identified as well. Discussion: Based on the life course theory, moments of transition and turning points were identified, as well as social influences such as historical time and place. Thereby, this study contributed to a better understanding of trans youth's GI developmental trajectories in the Portuguese context, where the study on this topic is still emergent, also contributing to inform the path to be taken at the international level regarding socio-legal policies concerning trans youth.

12.
Indian J Psychol Med ; 46(4): 323-329, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-39056033

RESUMO

Background: Anorexia nervosa is one of the least studied mental health conditions in the Indian setting. The objective of this study was to assess the course and outcome of anorexia nervosa in adolescents who had presented to a tertiary care child and adolescent psychiatry center over a period of 10 years. Methods: The present study is a retrospective chart review of adolescents (up to the age of 18 years) with a diagnosis of anorexia nervosa, coded as F50.0 or F50.1 according to ICD 10, from 1st April 2009 to 31st March 2019. Data were extracted from the case records using standardized abstraction forms and evaluated using descriptive and nonparametric statistics. Results: The average age at presentation and the average age at onset were 14.1 years and 13.1 years, respectively. The male-to-female ratio of the sample who got admitted was 1:9. The average duration of hospital stay was about 30 days. The duration of in-patient care and weight gain were positively correlated, with severe to extremely ill adolescents improving even in less than one month of in-patient care. Seventy per cent of the admitted adolescents followed up. The functional outcome as measured by a 'return to school' improved in 57.1% of the sample. Conclusions: The present study highlights the collaborative multidisciplinary and individualized treatment approach employed for adolescents diagnosed with anorexia nervosa within an inpatient mental health facility in India. Adolescents who presented with more severe illness at the initial assessment, such as an early onset of symptoms and a low BMI, experienced substantial weight gain that exhibited a positive correlation with the length of their stay in the inpatient facility.

13.
Artigo em Inglês | MEDLINE | ID: mdl-39059465

RESUMO

BACKGROUND: Abnormalities in dorsolateral prefrontal cortex (DLPFC) oscillations are neurophysiological signatures of schizophrenia thought to underlie its cognitive deficits. Transcranial magnetic stimulation with electroencephalography (TMS-EEG) provides a measure of cortical oscillations unaffected by sensory relay functionality and/or patients' level of engagement, which are important confounding factors in schizophrenia. Previous TMS-EEG work showed reduced fast, gamma-range oscillations and a slowing of the main DLPFC oscillatory frequency, or natural frequency, in chronic schizophrenia. However, it is unclear whether this DLPFC natural frequency slowing is present in early-course schizophrenia (EC-SCZ) and is associated with symptom severity and cognitive dysfunction. METHODS: We applied TMS-EEG to the left DLPFC in 30 EC-SCZ and 28 healthy control (HC) subjects. Goal-directed working memory performance was assessed using the "AX" Continuous Performance Task (AX-CPT). The EEG frequency with the highest cumulative power at the stimulation site, or natural frequency, was extracted. We also calculated the local Relative Spectral Power (RSP) as the average power in each frequency band divided by the broadband power. RESULTS: Compared to HC, EC-SCZ had reduced DLPFC natural frequency (p=0.0000002, Cohen's d=-2.32) and higher DLPFC beta-range RSP (p=0.0003, Cohen's d=0.77). In EC-SCZ, the DLPFC natural frequency was inversely associated with negative symptoms. Across all participants, the beta-band RSP negatively correlated with the AX-CPT performance. CONCLUSIONS: A DLPFC oscillatory slowing is an early pathophysiological biomarker of schizophrenia that is associated with its symptom severity and cognitive impairments. Future work should assess whether non-invasive neurostimulation can ameliorate prefrontal oscillatory deficits and related clinical functions in EC-SCZ.

14.
Actas Dermosifiliogr ; 2024 Jul 05.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-38972580

RESUMO

This consensus document analyzed the management and emotional journey of patients with GPP (generalized pustular psoriasis), and the desirable course of the disease while detecting critical points and translating them into needs and recommendations. This project was conducted in 3 phases with participation from an advisory committee (n=8), an expert panel (n=15) and patients with GPP (n=6). The patients' disease progression was heterogeneous due to disease variations, different health care models implemented and available resources, and the lack of diagnostic and treatment guidelines. A total of 45 different recommendations have been made to optimize management and address the emotional component of these patients. Five of them stand out for their impact and viability. Therefore, a roadmap of priorities has been made generally available to improve the management of patients with GPP.

15.
Alzheimers Dement (Amst) ; 16(3): e12609, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39040465

RESUMO

INTRODUCTION: This study investigates the relationship between cognitive functioning and 59 modifiable and intrinsic factors at the cusp of midlife. METHODS: We analyzed data from 1221 participants in the Colorado Adoption/Twin Study of Lifespan behavioral development and cognitive aging (CATSLife; Mage = 33.20, %Female = 52.74). We assessed the impact of 59 factors on cognitive functioning using regularized regression and co-twin control models, controlling for earlier-life cognitive functioning and gray matter volume. RESULTS: Eight robust factors were identified, including education attainment, cognitive complexity, purpose-in-life, and smoking status. Twins reporting higher levels of cognitive complexity and purpose-in-life showed better cognitive performance than their cotwin, while smoking was negatively associated. Using meta-analytically derived effect size threshold, we additionally identified that twins experiencing more financial difficulty tend to perform less well compared with their cotwin. DISCUSSION: The findings highlight the early midlife link between cognitive functioning and lifestyle/psychological factors, beyond prior cognitive performance, brain status, genetic and familial confounders. Our results further highlight the potential of established adulthood as a crucial window for dementia prevention interventions targeting lifestyle and psychosocial factors. Highlights: Cog complexity(+), purpose-in-life(+) were associated with cognition in early midlife.Smoking(-) was also associated with cognition in early midlife.Results were consistent controlling for genetic and environmental confounds.Association between EA and cognition might be mostly genetic and familial confounded.

16.
Cureus ; 16(6): e62908, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-39040721

RESUMO

Introduction Despite world-class medical facilities and clinical expertise in India, various challenges have hampered biomedical research, including limited funding, overburdened healthcare professionals, and inadequate research infrastructure. The National Medical Commission (NMC) has recognized the need to enhance research capabilities in the medical community and mandated the Basic Course in Biomedical Research (BCBR). This study evaluates the impact of BCBR on medical teachers and postgraduate students across India. Methods A cross-sectional survey-based study was conducted among 245 participants who completed BCBR, out of 1,187 who were sent the questionnaire. A structured questionnaire collected data on demographics, motivations for taking the course, knowledge and skills improvement, and research output. Statistical analyses were performed using IBM SPSS Statistics for Windows, Version 29.0 (Released 2022; IBM Corp., Armonk, NY, USA). Results Participants included diverse age groups, with motivations ranging from regulatory compliance to a genuine desire for research knowledge. The majority scored over 70% in the course, indicating substantial knowledge improvement. BCBR positively influenced research output with increased research proposal submissions, publications, and improved thesis mentoring. The analysis showed that participants' designations and branches of study significantly affected course performance, while gender did not. The study revealed a strong correlation between pre-course and post-course performance across various research topics. Conclusion BCBR, mandated by the NMC, not only fulfills regulatory requirements but also promotes a research culture in India's medical community.

17.
Cognition ; 251: 105900, 2024 Jul 23.
Artigo em Inglês | MEDLINE | ID: mdl-39047583

RESUMO

Animate cues enjoy priority in attentional processes as they carry survival-relevant information and herald social interaction. Whether and in what way such an attention effect is associated with more general aspects of social cognition remains largely unexplored. Here we investigated whether the attentional preference for animals varies with observers' autistic traits - an indicator of autism-like characteristics in general populations related to one's social cognitive abilities. Using the dot-probe paradigm, we found that animal cues can rapidly and persistently recruit preferential attention over inanimate ones in observers with relatively low, but not high, autistic traits, as measured by Autism-Spectrum Quotient (AQ). Moreover, individual AQ scores were negatively correlated with the attentional bias toward animals, especially at the early orienting stage. These results were not simply due to low-level visual factors, as inverted or phase-scrambled pictures did not yield a similar pattern. Our findings demonstrate an automatic and enduring attentional bias beneficial to both rapid detection and continuous monitoring of animals and reveal its link with autistic traits, highlighting the critical role of animacy perception in the architecture of social cognition.

18.
Artigo em Inglês | MEDLINE | ID: mdl-39057601

RESUMO

Labeling with deuterium oxide (D2O) has emerged as one of the preferred approaches for measuring the synthesis of individual proteins in vivo. In these experiments, the synthesis rates of proteins are determined by modeling mass shifts in peptides during the labeling period. This modeling depends on a theoretical maximum enrichment determined by the number of labeling sites (NEH) of each amino acid in the peptide sequence. Currently, NEH is determined from one set of published values. However, it has been demonstrated that NEH can differ between species and potentially tissues. The goal of this work was to determine the number of NEH for each amino acid within a given experiment to capture the conditions unique to that experiment. We used four methods to compute the NEH values. To test these approaches, we used two publicly available data sets. In a de novo approach, we compute NEH values and the label enrichment from the abundances of three mass isotopomers. The other three methods use the complete isotope profiles and body water enrichment in deuterium as an input parameter. They determine the NEH values by (1) minimizing the residual sum of squares, (2) from the mole percent excess of labeling, and (3) the time course profile of the depletion of the relative isotope abundance of monoisotope. In the test samples, the method using residual sum of squares performed the best. The methods are implemented in a tool for determining the NEH for each amino acid within a given experiment to use in the determination of protein synthesis rates using D2O.

19.
Geriatr Gerontol Int ; 2024 Jul 25.
Artigo em Inglês | MEDLINE | ID: mdl-39054593

RESUMO

AIM: In Taiwan, over 90% of dementia patients received home care. Severe dementia-linked food refusal significantly affects nutrition, thereby straining caregivers. Family caregivers can reduce their burden by learning feeding and dementia nutrition online, thus preserving patient oral feeding. The study aim for family caregivers learn online Hand-Under-Hand (UH) techniques to ease feeding in severe dementia, enhancing nutrition and reducing their burden. METHODS: In this quasi-experimental study, participants in the experimental group received 2-h UH courses online, while the control group received their usual care. The primary outcome indicators were abnormal eating behavior, nutritional status, and caregiver burden, with outcomes tracked at 0, 1, and 3 months. At the neurology outpatient clinic of a medical center in Taipei, 65 dyads-comprising patients with severe dementia and their caregivers-were randomly assigned to groups. RESULTS: The study participants comprised 36 female and 29 male caregivers, with an average age of 58.09 years. The patient group included 43 females and 22 males, with a mean age of 83.32 years. Patients in the experimental group exhibited reduced abnormal eating behavior, and caregiver burden was reduced at 1 and 3 months, patients demonstrated improved nutritional status by month 3. CONCLUSIONS: The accessibility and convenience of online courses enabled family caregivers to use UH feeding techniques to effectively improve the nutritional status and correct the abnormal eating behavior of patients with dementia, while also decreasing caregiver burden. Geriatr Gerontol Int 2024; ••: ••-••.

20.
Int J Mol Sci ; 25(13)2024 Jun 28.
Artigo em Inglês | MEDLINE | ID: mdl-39000225

RESUMO

GBA1-associated Parkinson's disease (GBA1-PD) is increasingly recognized as a distinct entity within the spectrum of parkinsonian disorders. This review explores the unique pathophysiological features, clinical progression, and genetic underpinnings that differentiate GBA1-PD from idiopathic Parkinson's disease (iPD). GBA1-PD typically presents with earlier onset and more rapid progression, with a poor response to standard PD medications. It is marked by pronounced cognitive impairment and a higher burden of non-motor symptoms compared to iPD. Additionally, patients with GBA1-PD often exhibit a broader distribution of Lewy bodies within the brain, accentuating neurodegenerative processes. The pathogenesis of GBA1-PD is closely associated with mutations in the GBA1 gene, which encodes the lysosomal enzyme beta-glucocerebrosidase (GCase). In this review, we discuss two mechanisms by which GBA1 mutations contribute to disease development: 'haploinsufficiency,' where a single functional gene copy fails to produce a sufficient amount of GCase, and 'gain of function,' where the mutated GCase acquires harmful properties that directly impact cellular mechanisms for alpha-synuclein degradation, leading to alpha-synuclein aggregation and neuronal cell damage. Continued research is advancing our understanding of how these mechanisms contribute to the development and progression of GBA1-PD, with the 'gain of function' mechanism appearing to be the most plausible. This review also explores the implications of GBA1 mutations for therapeutic strategies, highlighting the need for early diagnosis and targeted interventions. Currently, small molecular chaperones have shown the most promising clinical results compared to other agents. This synthesis of clinical, pathological, and molecular aspects underscores the assertion that GBA1-PD is a distinct clinical and pathobiological PD phenotype, necessitating specific management and research approaches to better understand and treat this debilitating condition.


Assuntos
Glucosilceramidase , Mutação , Doença de Parkinson , Humanos , Glucosilceramidase/genética , Glucosilceramidase/metabolismo , Doença de Parkinson/genética , Doença de Parkinson/metabolismo , Doença de Parkinson/patologia , alfa-Sinucleína/metabolismo , alfa-Sinucleína/genética
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