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1.
Rev. med. Risaralda ; 30(1): 29-39, jul.-dic. 2024. tab
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1576517

RESUMO

Resumen Introducción: la lepra afecta a millones de personas deteriorando la salud física y mental, generando complicaciones como síntomas depresivos que pueden afectar la calidad de vida. Objetivo: estimar la prevalencia de síntomas depresivos en una agremiación de pacientes y expacientes con enfermedad de Hansen de una ciudad del Caribe colombiano. Materiales y métodos: estudio descriptivo con muestreo no probabilístico en miembros de una agremiación de pacientes y ex-pacientes con enfermedad de Hansen de una ciudad del Caribe colombiano. Los síntomas depresivos fueron estimados mediante test de Beck I y los resultados se contrastaron con variables sociodemográficas y clínicas mediante análisis bivariado. Resultados: participaron 51 personas, con una edad promedio de 52 años (IC 35,7-68,5), y predominio del sexo masculino (57%). El 39% de la población cursó bachillerato, el 25% se encontraban en tratamiento al momento de la encuesta y el 33% presentaban algún grado de discapacidad. El 27%, 16% y 2% de la población presentó depresión leve, moderada y severa respectivamente. El síntoma depresivo más frecuentemente descrito fue la fatiga (13%) seguido de cambios en el apetito (84,2%), llanto (81,6%), y tristeza (79%). No se encontró relación estadísticamente significativa entre presencia de síntomas depresivos y características sociodemográficas, el tratamiento y la discapacidad. Conclusiones: el 35% de los encuestados con el test de Beck I obtuvo calificaciones compatibles con depresión, se recomienda incluir manejo especializado en salud mental dentro del abordaje integral del paciente y expaciente con enfermedad de Hansen.


ABSTACT Introduction: Leprosy affects millions of people, impairing both physical and mental health and giving rise to complications such as depressive symptoms that can impact the quality of life. Objective: To estimate the prevalence of depressive symptoms in an association of patients and former patients with Hansen's disease in a city in the Colombian Caribbean. Materials and methods: A descriptive study with non-probabilistic sampling was conducted among members of an association of patients and former patients with Hansen's disease in a city in the Colombian Caribbean. Depressive symptoms were assessed using the Beck Depression Inventory, and the results were compared with sociodemographic and clinical variables through bivariate analysis. Results: Fifty-one individuals participated, with an average age of 52 years (CI 35.7-68.5), and a male predominance (57%). Thirty-nine percent of the population had completed high school, 25% were undergoing treatment at the time of the survey, and 33% had some degree of disability. Twenty-seven percent, 16%, and 2% of the population exhibited mild, moderate, and severe depression, respectively. The most frequently reported depressive symptom was fatigue (13%), followed by changes in appetite (84.2%), crying (81.6%), and sadness (79%). No statistically significant relationship was found between the presence of depressive symptoms and sociodemographic characteristics, treatment, or disability. Conclusions: It is evident that 35% of respondents scored in the range indicative of depression on the Beck Depression Inventory. Specialized mental health management is recommended to be included in the comprehensive care of patients and former patients with Hansen's disease.

2.
Artigo em Espanhol | LILACS-Express | LILACS, BDENF - Enfermagem | ID: biblio-1574811

RESUMO

Introducción: La historia del cuidado de enfermería ha transitado cuatro etapas: doméstica, vocacional, técnica y profesional, que han sido fundamentales en su desarrollo. Sin embargo, los actuales desafíos sociosanitarios ponen de manifiesto la necesidad de proyectar nuevas etapas. Objetivo: Proyectar el futuro del cuidado de enfermería a la luz de la filosofía y teoría de los cuidados transpersonales de Jean Watson. Metodología: Se realizó una revisión sistemática y un análisis crítico-reflexivo sobre las proyecciones disciplinares de la enfermería. La revisión abarcó artículos publicados hasta 2023 en Web of Science, LILACS, SciELO y CINAHL. Se encontraron 366 artículos, de los cuales 8 cumplieron con los criterios de elegibilidad. El análisis crítico-reflexivo se centró en describir la evolución de las etapas y en proponer una etapa futura. Resultados: El cuidado humanizado es un proceso complejo que requiere de habilidades de comunicación específicas, no solo entre profesionales de la salud, sino también con los usuarios y sus familias. A su vez, el cuidado humanizado se integra a un entorno clínico desafiante, debido a la alta carga laboral, la disponibilidad limitada de recursos y la necesidad de mantener un nivel competitivo en la práctica profesional. Se propone como quinta etapa el "cuidado disciplinar de enfermería". Conclusiones: Esta nueva etapa se centraría en la gestión del cuidado y en el cuidado humanizado mediante un perfeccionamiento de la investigación, la formación continua, los modelos y teorías, y la autonomía profesional


Introdução: A história do cuidado na enfermagem passou por quatro etapas: doméstica, vocacional, técnica e profissional, que foram fundamentais para seu desenvolvimento. No entanto, os atuais desafios sociossanitários destacam a necessidade de projetar novas etapas. Objetivo: Projetar o futuro do cuidado de enfermagem à luz da filosofia e da teoria dos cuidados transpessoais de Jean Watson. Metodologia: Foi realizada uma revisão sistemática e uma análise crítico-reflexiva sobre as projeções disciplinares da enfermagem. A revisão abrangeu artigos publicados até 2023 nas bases Web of Science, LILACS, SciELO e CINAHL. Foram encontrados 366 artigos, dos quais 8 atenderam aos critérios de elegibilidade. A análise crítico-reflexiva concentrou-se em descrever a evolução das etapas e propor uma etapa futura. Resultados: O cuidado humanizado é um processo complexo que exige habilidades específicas de comunicação, não apenas entre os profissionais de saúde, mas também com os usuários e seus familiares. Por sua vez, o cuidado humanizado está integrado em um ambiente clínico desafiador, devido à alta carga de trabalho, disponibilidade limitada de recursos e à necessidade de manter um nível competitivo na prática profissional. Propõe-se como quinta etapa o "cuidado disciplinar de enfermagem". Conclusões: Esta nova etapa se concentraria no gerenciamento do cuidado e no cuidado humanizado por meio do aperfeiçoamento da pesquisa, da formação continuada, dos modelos e teorias e da autonomia profissional


Introduction: The history of nursing care has passed through four stages: domestic, vocational, technical and professional, which have been fundamental in its development. However, current socio-sanitary challenges demonstrate the need to plan new steps. Objective: Project the future of nursing care in the light of the philosophy and theory of transpersonal care by Jean Watson. Methodology: A systematic review and critical-reflexive analysis of nursing disciplinary projections was carried out. The review covers articles published until 2023 in Web of Science, LILACS, SciELO and CINAHL. There will be 366 articles, of which 8 met the eligibility criteria. The critical-reflexive analysis focuses on describing the evolution of the stages and proposing a future stage. Results: Humanized care is a complex process that requires specific communication skills, both between healthcare professionals and users and their families. In turn, humanized care is integrated into a challenging clinical environment, due to the high workload, limited availability of resources and the need to maintain a competitive level in professional practice. "Disciplinary nursing care" is proposed as a fifth stage. Conclusions: This new stage will focus on care management and humanized care through perfecting research, continued training, models and theories, and professional autonomy

4.
Artigo em Inglês | MEDLINE | ID: mdl-39356224

RESUMO

This study aimed to validate an inflammation-based risk score in patients with ST-segment elevation myocardial infarction (STEMI) by examining their cytokine profiles. Upon admission, patients were evaluated for systemic inflammation using a risk score that assigned points based on specific biomarkers: 1 point for leukocyte count ≥9.3 × 10³ cells/µL, 2 points for high-sensitivity C-reactive protein (hsCRP) ≥13.0 mg/L, and 3 points for serum albumin ≤3.6 g/dL. Patients were categorized into three groups: no inflammation (0 points, n = 13), mild inflammation (1-2 points, n = 35), and severe inflammation (3-6 points, n = 26). Serum levels of 16 key cytokines were measured. Patients with higher risk scores showed elevated interleukin (IL)-6 levels (19.6 vs. 8.5 vs. 6.8 pg/mL; P = 0.021) and decreased interferon-γ-induced protein-10 (IP-10) levels (73.4 vs. 68.8 vs. 112.2 pg/mL; P = 0.011). IL-6 was positively correlated with hsCRP (ρ 0.307) and negatively correlated with albumin (ρ -0.298), while IP-10 was negatively correlated with leukocyte count (ρ -0.301). No other cytokines showed significant association with the risk score. Higher inflammation scores were also associated with an increased incidence of major adverse cardiovascular events, particularly acute heart failure. This study underscores the association between the inflammation-based risk score and cytokine levels, specifically IL-6 and IP-10, in patients with STEMI.

5.
Cancer Immunol Immunother ; 73(12): 242, 2024 Oct 03.
Artigo em Inglês | MEDLINE | ID: mdl-39358613

RESUMO

The biotechnological development of monoclonal antibodies and their immunotherapeutic use in oncology have grown exponentially in the last decade, becoming the first-line therapy for some types of cancer. Their mechanism of action is based on the ability to regulate the immune system or by interacting with targets that are either overexpressed in tumor cells, released into the extracellular milieu or involved in processes that favor tumor growth. In addition, the intrinsic characteristics of each subclass of antibodies provide specific effector functions against the tumor by activating antibody-dependent cellular cytotoxicity, complement-dependent cytotoxicity, and antibody-dependent cellular phagocytosis, among other mechanisms. The rational design and engineering of monoclonal antibodies have improved their pharmacokinetic and pharmacodynamic features, thus optimizing the therapeutic regimens administered to cancer patients and improving their clinical outcomes. The selection of the immunoglobulin G subclass, modifications to its crystallizable region (Fc), and conjugation of radioactive substances or antineoplastic drugs may all improve the antitumor effects of therapeutic antibodies. This review aims to provide insights into the immunological and pharmacological aspects of therapeutic antibodies used in oncology, with a rational approach at molecular modifications that can be introduced into these biological tools, improving their efficacy in the treatment of cancer.


Assuntos
Neoplasias , Humanos , Neoplasias/imunologia , Neoplasias/tratamento farmacológico , Neoplasias/terapia , Animais , Imunoterapia/métodos , Anticorpos Monoclonais/uso terapêutico , Anticorpos Monoclonais/imunologia , Antineoplásicos Imunológicos/uso terapêutico , Antineoplásicos Imunológicos/farmacologia , Citotoxicidade Celular Dependente de Anticorpos/imunologia
6.
Expert Opin Drug Saf ; : 1-7, 2024 Oct 13.
Artigo em Inglês | MEDLINE | ID: mdl-39377184

RESUMO

BACKGROUND: Dapagliflozin prevents myocardial dysfunction in chronic kidney disease patients regardless of residual kidney function. We hypothesized that this effect is extensible also to patients on dialysis. RESEARCH DESIGN AND METHODS: The DARE-ESKD-2 is an ongoing, single-center, open-label randomized clinical trial designed to determine the effects of adding dapagliflozin to standard treatment on myocardial function and structure. Eligible patients were adults on a regular dialysis scheme for more than 3 months. Pregnancy, liver failure, allergy to the investigational drug, and prior use of SGLT2i were exclusion criteria. Participants were randomized in a 1:1 ratio to dapagliflozin or standard treatment groups for 24-weeks. The primary goal is to compare the change in NT-proBNP levels between study arms, and secondary goals include comparing the between-group difference in left ventricle global longitudinal strain, indexed mass, ejection fraction, and E/e` ratio, and on symptoms scale and 6-minute walk test distance. An exploratory analysis will evaluate changes in body composition and bone densitometry. RESULTS: The trial has finished the enrollment of 80 patients, who are currently being followed-up. CONCLUSIONS: This trial will provide novel data on myocardial effects of SGLT2i in dialysis recipients. Results from this study may provide evidence to support SGLT2i use in ESKD.

7.
Child Abuse Negl ; 157: 107073, 2024 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-39383770

RESUMO

BACKGROUND: In Chile demand for specialist care following exposure to interpersonal violence (IPV) in youth far exceeds capacity. Group interventions may improve access to care for youth. OBJECTIVE: To evaluate the effectiveness and acceptability of two low-intensity group interventions: Trama Focused Cognitive Behavioral Therapy (TF-CBT); Interpersonal Psychotherapy (IPT); and treatment as usual, Art therapy-based support (ATBS). Outcomes measured were post-traumatic stress symptoms, depression, interpersonal functioning and affect regulation. PARTICIPANTS AND SETTING: Participants were 67 Chilean youth aged 13-17 years, victims of IPV on a waiting list to receive specialist individual intervention. METHODS: Using a randomised controlled trial design, participants were randomly assigned to one of the interventions. Self-report measures were completed at 5 timepoints between baseline and follow up eight weeks after intervention ended. Dropout rates and attendance were also analysed. RESULTS: TF-CBT showed significant decreases for PTSD (d = 0.91) and depression (d = 0.77) symptoms, sustained at follow-up with affect regulation problems also showing significant decrease from baseline (d = 0.43). IPT showed significant decreases in PTSD symptoms (d = 0.64) and affect regulation problems (d = 0.66), both sustained at follow-up. ATBS showed statistically significant decrease for PTSD (d = 0.79) and interpersonal problems (d = 0.65) but only change in PTSD was sustained at follow-up. There were no significant differences in dropout or attendance between the interventions. CONCLUSION: Group interventions provide a viable and effective first-phase option for reducing psychological distress in IPV-exposed youth in high-demand contexts. Effectiveness may be further improved through the more active involvement of parents and carers.


Assuntos
Terapia Cognitivo-Comportamental , Psicoterapia de Grupo , Transtornos de Estresse Pós-Traumáticos , Humanos , Adolescente , Chile , Feminino , Masculino , Projetos Piloto , Psicoterapia de Grupo/métodos , Transtornos de Estresse Pós-Traumáticos/terapia , Transtornos de Estresse Pós-Traumáticos/psicologia , Terapia Cognitivo-Comportamental/métodos , Funcionamento Psicossocial , Depressão/terapia , Depressão/psicologia , Arteterapia/métodos , Psicoterapia Interpessoal/métodos , Exposição à Violência/psicologia
8.
J Oral Biol Craniofac Res ; 14(6): 700-705, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39399142

RESUMO

Introduction: Genetic polymorphisms who disturb the mineral homeostasis during tooth development and eruption are candidate to clarify the molecular mechanisms involved in changes in the tooth eruption chronology. In this study, we evaluate whether the FokI (rs2228570) and BglI (rs739837) polymorphisms in the Vitamin D receptor (VDR) gene are associated with changes in the chronology of eruption of permanent teeth. Material & method: This cross-sectional study randomly included 353 biologically unrelated children, both sexes, without systemic impairment or syndromes and history of trauma during the primary dentition. One operator perform the oral clinical examination. The tooth was considered erupted if there was a visible minimum of any tooth surface emerging from the mucosa. Genomic DNA was extracted from buccal epithelial cells from saliva samples. Genotyping was performed by Real-Time Polymerase Chain Reactions using TaqMan® technology. The average of the total number of erupted permanent teeth between the genotypes was compared by the Mann-Whitney test and multivariate Generalized Linear Models (GLM) (α = 5 %). ß values with Confidence Interval (CI) 95 % were calculated. Results: The heterozygous adenine-guanine genotype of the FokI significantly decreases the number of erupted permanent teeth (ß = -1.15; CI 95 % = -2.22 to -0.07; p = 0.036). In the stratified analysis for maxillary and mandibular teeth, this genotype was associated with a decrease in the number of erupted maxillary permanent teeth (ß = -0.65; CI 95 % = -1.22 to -0.09; p = 0.023). BglI was not associated with permanent teeth eruption. Conclusion: The FokI, but not BglI, in the VDR may delay the eruption of permanent teeth.

9.
Int J Mol Sci ; 25(19)2024 Oct 06.
Artigo em Inglês | MEDLINE | ID: mdl-39409079

RESUMO

Spinocerebellar ataxia type 7 (SCA7) is a rare genetic disease characterized by progressive cerebellar syndrome and macular degeneration. In a previous study, we clinically and genetically characterized a group of Mexican patients, which represented one of the largest cohorts of SCA7 patients worldwide and demonstrated that all patients had a unique genetic origin. Our laboratory developed a program for the diagnosis, medical care, and long-term follow-up of these patients living in Veracruz State, and in this report, we present an update to this research, covering 2013 to 2024. So far, we identified 172 SCA7 carriers, with a few cases outside Veracruz, and our data support that the length of the CAG repeat tract mainly determines disease severity and life expectancy, and accordingly, we define three different phenotypes, early-onset (EO), classical-onset (CO), and late-onset (LO), with EO patients showing the lowest life expectancy. Furthermore, we found that parental transmission of mutant alleles leads to increased CAG repeat instability, compared to maternal ones. Interestingly, a haplotype analysis revealed that patients outside Veracruz may have different genetic origins. In conclusion, longitudinal observations of SCA7 patients provide insight into the natural history of SCA7 and help to design strategies for diagnosis, genetic counseling, physical rehabilitation, and therapeutic alternatives.


Assuntos
Doenças Raras , Ataxias Espinocerebelares , Humanos , Ataxias Espinocerebelares/genética , Ataxias Espinocerebelares/epidemiologia , Ataxias Espinocerebelares/terapia , Ataxias Espinocerebelares/diagnóstico , México/epidemiologia , Feminino , Masculino , Doenças Raras/genética , Doenças Raras/terapia , Doenças Raras/diagnóstico , Doenças Raras/epidemiologia , Adulto , Pessoa de Meia-Idade , Fenótipo , Expansão das Repetições de Trinucleotídeos , Haplótipos , Idade de Início
10.
Front Psychol ; 15: 1289446, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39359963

RESUMO

Introduction: Early intervention and parental education for preemies are limited in some low-income countries. Thus, this study aimed to assess whether daily tummy time (TT) associated with usual care (UC) enhances motor and cognitive development in preemies from low-income countries. The main and secondary aim was to assess prone head elevation (PHE) and motor and cognitive functions, respectively. Methods: Thirty-one preemies with a mean gestational age at birth of 33.3 ± 1.6 weeks and weighing <2,500 g were included and 18 completed all assessments. Parents from the TT group were asked to perform TT with their preemies for at least 20 min during daily activities and playtime. Motor and cognitive functions were assessed by a blinded examiner using the motor and cognitive composite scores of Bayley-III after two and four months of corrected age. PHE was given by the angle from the tragus of the ear to the supporting surface of the infant; measurements were obtained using the Kinovea® software at baseline, after two, three, and four months of corrected age. Results: The Bayley-III motor composite score of the TT group was higher than the UC group after two and four months of corrected age. The PHE angle increased over time but did not differ between groups. Discussion: Nevertheless, TT expanded the perspective of preemies to explore their bodies and environment, favoring the stimuli for motor and cognitive patterns. The loss of participants (31%) was one of the limitations of the study, illustrating the challenge of providing continued early interventions to preemies from low-income countries. In this sense, TT practice is a home intervention that may improve motor and cognitive function of preemies immediately after hospital discharge.

11.
Surg Neurol Int ; 15: 336, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39372973

RESUMO

Background: Microvascular decompression (MVD) using Teflon or Ivalon is the surgeon's preference for treating trigeminal neuralgia (Tn). Still, sometimes the prosthetic material is unavailable, or there is some recurrence of pain during the follow-up. In this case series, we report the outcome analysis for MVD using the expanded polytetrafluoroethylene (ePTFE) sleeve technique in classic Tn. Methods: We conducted a retrospective analysis of patients with Tn from January 2017 to March 2022. Classic or primary Tn was considered a direct compression by a cerebrovascular structure in the posterior fossa, detected by magnetic resonance imaging or direct surgical visualization. Pre- and postoperative Barrow Neurological Institute Pain Intensity Scale (BNI-SI) and Barrow Neurological Institute Hypoesthesia Scale (BNI-HS) were used for the clinical results assessment of the ePTFE sleeve circumferential technique. Results: There were nine patients approached with the 3/4 circumferential ePTFE sleeve technique with BNISI IV (n: 11, 58%) and BNI-SI V (n: 8, 42%). In all patients, there was a clinical improvement after the surgical treatment (P < 0.001). All patients obtained BNI-SI ≤ IIIa in an average follow-up of 11.89 (±14.137), with a slight improvement in BNI-HS (P: 0.157). In our revision, this technique has not previously been described for Tn. Conclusion: The circumferential ePTFE sleeve technique is a good option for MVD in Tn. For classic Tn, MVD could remain the first option, and this technique could be applied for multi-vessel compression.

12.
J Appl Toxicol ; 2024 Oct 07.
Artigo em Inglês | MEDLINE | ID: mdl-39375180

RESUMO

Siloxanes, commonly known as silicones, are polymeric compounds made up of silicon and oxygen atoms bonded together alternately. Within this group of substances are linear methyl-siloxanes and cyclic methyl-siloxanes, with octamethylcyclotetrasiloxane (D4) and decamethylcyclopentasiloxane (D5) being the most produced and used industrially. Due to their versatility, high production volume, stability, and local presence in environmental matrices and biological fluids such as breast milk, fat, and plasma, siloxanes have been considered persistent organic pollutants, representing a public health problem. This represents a public health concern, especially when different investigations have reported potential endocrine effects at the reproductive level in experimental animals exposed to D4 and D5. The objective of this study was to review the potential reproductive and endocrine effects derived from siloxanes present in personal care products (PCPs). The results of the literature review confirmed that D4 and D5 were the most used siloxanes as additives in PCP because they improve the emollient properties of the cosmetic and the physical appearance of hair and skin. Similarly the toxicological effects of siloxanes, particularly D4, D5, and D6 included significant endocrine disruption, reproductive toxicity, and liver toxicity. Studies in SD and F-344 rats, commonly used to assess these effects, have shown that D4 has low estrogenic activity, binding to ER-α receptors, whereas D5 does not bind to estrogen receptors. D4 exposure has been associated with increased uterine weight and estrous cycle alterations, leading to prolonged exposure to estrogens, which raises the risk of endometrial hyperproliferation and carcinogenesis. Recent research highlights that D5 exposure disrupts follicle growth, endometrial receptivity, and steroidogenesis, resulting in infertility and hormonal imbalances, potentially causing disorders like endometriosis and increased cancer risk. Chronic exposure to D5 has been linked to the development of uterine endometrial adenocarcinoma, with higher doses further elevating this risk.

13.
Front Pharmacol ; 15: 1467036, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39403135

RESUMO

Introduction: The Cuban population is genetically diverse, and information on the prevalence of genetic variants is still limited. As complex admixture processes have occurred, we hypothesized that the frequency of pharmacogenetic variants and drug responses may vary within the country. The aims of the study were to describe the frequency distribution of 43 single-nucleotide variants (SNVs) from 25 genes of pharmacogenetic interest within the Cuba population and in relation to other populations, while taking into consideration some descriptive variables such as place of birth and skin color. Materials and Methods: SNVs were analyzed in 357 unrelated healthy Cuban volunteers. Genotype, allele frequencies, and ancestry proportions were determined, and the pairwise fixation index (FST ) was evaluated. Results: Hardy-Weinberg equilibrium (HWE) deviations in six loci (rs11572103, rs2740574, rs776746, rs3025039, rs861539, and rs1762429) were identified. Minor allele frequencies (MAFs) ranged from 0.00 to 0.15 for variants in genes encoding xenobiotic metabolizing enzymes. They also ranged from 0.01 to 0.21 for variants in DNA repair, growth factors, methyltransferase, and methyl-binding proteins, while they ranged from 0.04 to 0.27 for variants in the O-6-methylguanine-DNA methyltransferase enzyme. Moderate genetic divergence was observed upon comparison to Africans (FST = 0.071 and SD 0.079), with 19 markers exhibiting moderate-to-large genetic differentiation. The average European, African, and Amerindian ancestry proportions were 67.8%, 27.2%, and 5.3%, respectively. Ancestry proportions differed by skin color and birthplace for both African and European components, with the exception of the European component, which showed no significant difference between individuals from Western and Eastern regions. Meanwhile, the statistical significance varied in comparisons by skin color and birthplace within the Amerindian component. Low genetic divergence was observed across geographical regions. We identified 12 variants showing moderate-to-large differentiation between White/Black individuals. Conclusion: Altogether, our results may support national strategies for the introduction of pharmacogenetic tools in clinical practice, contributing to the development of precision medicine in Cuba.

14.
Front Pharmacol ; 15: 1433970, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39403137

RESUMO

Background: Gaucher's disease (GD), a lysosomal storage disorder, poses significant treatment challenges. This 23-year study assesses survival rates and treatment efficacy in Brazilian GD patients, integrating data from a 16-year cohort (2000-2015) and the TABNET/DATASUS medicines distribution data (1999-2022). Objective: To investigate the survival of GD patients in Brazil, identifying key risk factors and evaluating the impact of treatments funded by the Brazilian National Health System (SUS). Methodology: A 16-year retrospective cohort study was conducted using the National Database of SUS. Patients diagnosed with GD and treated with Enzyme Replacement Therapy (ERT) or Substrate Synthesis Inhibition (SSI) from 2000 to 2015 were included. Survival analysis was performed using Kaplan-Meier method and Cox proportional hazards model. The data from TABNET/DATASUS system from 1999 to 2022 was used to assess the trend in drug distribution beyond the main cohort. Results: The study included 1,234 patients. Survival rates at 5 and 10 years were 93.2% and 88.5%, respectively, with age and comorbidities like diabetes, cardiovascular diseases, and Parkinson's disease significantly affecting survival. Patients who received doses lower than DDD (n = 880) demonstrated a survival probability of 91.8%. In contrast, those with doses equal to the DDD (n = 15) showed a 100% survival probability, as no events were observed in this group. The greater than DDD group (n = 339) exhibited a survival probability of 81%. A log-rank test indicated a borderline statistical significance (p = 0.058) in the survival distributions among the different DDD adherence, with the lower dose group showing a favorable trend. Conclusion: This study provides insights into the survival rates and associated risk factors for GD patients in Brazil, contributing to the global understanding of GD and its management. While we acknowledge the inherent limitations of relying largely on electronic medical records and categorical codes, our findings underscore the need for early diagnosis, timely initiation of treatment, effective management of comorbidities, and personalized dosing strategies to improve patient outcomes. Future studies should aim to incorporate clinical verification of electronic data to further enhance the reliability and applicability of these findings.

15.
Animals (Basel) ; 14(19)2024 Oct 08.
Artigo em Inglês | MEDLINE | ID: mdl-39409840

RESUMO

This work aims to study the major salivary gland morphology of peccaries during their growth. The glands were analyzed using macroscopic description, light microscopy, electron microscopy, histochemistry, and immunohistochemistry. Topographically, the salivary glands resemble other animals, including domestic animals and pigs. During growth, the parotid enlarges and mandibular gland loses weight. Histologically, the parotid has serous production, and sublingual has mucous production, resembles most species, however, mandibular gland produces mucous, unlike other animals, including pigs, which produce seromucous secretion. Histochemically, parotid produces more acidic mucins than pigs and it undergoes maturation during development; mandibular, and especially the sublingual gland, produce more acidic and basic mucopolysaccharides than pigs. The results found with transmission and scanning electron microscopy techniques corroborate the histological and histochemistry findings. The major salivary glands were positive to different lecithins (Com-A, BSA-I-B4, WGA and PNA), which were also more positive than in pigs and sheep. We conclude that collared peccaries have a salivary secretion that facilitates the digestion of carbohydrates, and biometric characteristics and positivity to lecithins that facilitate adaptation to foods with antinutritional factors.

16.
Foods ; 13(19)2024 Oct 07.
Artigo em Inglês | MEDLINE | ID: mdl-39410219

RESUMO

The consumption of fatty acids offers significant health benefits; however, they are prone to degradation by environmental factors. One method to preserve these fatty acids is the addition of synthetic antioxidants. This study focuses on the determination of peroxide and MDA formation rates at temperatures of 25 °C, 45 °C, and 65 °C. The oxidative stability of cold-pressed avocado oil was evaluated using pure astaxanthin, TBHQ, and H. pluvialis extract at concentrations of 100, 500, and 1000 ppm. Kinetic models and thermodynamic analysis were applied to determine the oxidation rate and compare the antioxidant effects of H. pluvialis extract with astaxanthin and TBHQ. The Arrhenius model was used to estimate activation energy (Ea), enthalpy, entropy, and free energy. Avocado oil with 500 ppm of H. pluvialis extract showed antioxidant effects comparable to TBHQ and pure astaxanthin. The activation energy of plain avocado oil was 40.47 kJ mol-1, while with H. pluvialis extract, it was 54.35 kJ mol-1. These findings suggest that H. pluvialis extract offers effective antioxidant properties and could serve as a natural alternative to synthetic antioxidants in food applications, despite the limitations of unprotected astaxanthin.

17.
Artigo em Inglês | MEDLINE | ID: mdl-39321870

RESUMO

BACKGROUND: Long-term enlargement of the aortic arch after aortic arch reconstruction (AAR) in hypoplastic left heart syndrome (HLHS) is not well described. METHODS: Aortic arch measurements for 50 patients with HLHS who achieved Fontan completion were converted to Pediatric Heart Network z-scores. Dimensions were assessed using linear mixed models and differences among time points were evaluated with F-tests. Sub-analysis was conducted comparing Norwood (n=36) vs hybrid (n=14) strategies. RESULTS: Median time to last imaging was 6.4 (IQR, 3.5-11.3) years. Prior to intervention, the main pulmonary artery was dilated whereas the ascending aorta (AA), transverse arch (TA), and isthmus (ISTH) were hypoplastic. With AAR, there were expected increases in all arch z-scores. The aortic arch continued to dilate after AAR reaching peak values at 7 months [Neo-Aortic Complex (NAC): z= 6.9 (5.6-8.0)] or 12 months following stage I [AAo: z=6.1 (2.9-8.3); TA: z=4.7 (3.0-5.9)]. Following peak values, there was a gradual decline in z-scores with most components still at least mildly dilated at 16 years [NAC: z=3.2 (3.1-3.9), AAo: z=3.9 (3.3-4.2); TA: z=3.1 (2.5-3.7)] with abrupt calibre change at ISTH: z= -0.8 (-1.1- -0.3)]. Norwood and hybrid strategies showed similar enlargement profiles after 7 months of age. CONCLUSIONS: Neo-aortic root and aortic arch in HLHS are enlarged early after AAR and continue to enlarge out of proportion to normal controls until 12 months of age, with gradual decline in enlargement up to adolescence. Further work should focus on modifiable surgical factors which may prove important to optimize arch growth and geometry.

18.
Pancreatology ; 2024 Sep 23.
Artigo em Inglês | MEDLINE | ID: mdl-39327123

RESUMO

BACKGROUND: Although universal germline genetic testing is recommended for patients with exocrine pancreatic cancer (PC), access to genetic testing remains limited in low- and middle-income countries. This study aims to narrow the gap in our understanding of the spectrum of germline pathogenic and likely pathogenic variants (PVs) in cancer susceptibility genes in the Mexican population. METHODS: The landscape of PVs in cancer susceptibility genes was identified by next-generation sequencing multigene panel assays among patients with PC who were enrolled in the Clinical Cancer Genomics Community Research Network prospective registry in Mexico City. RESULTS: From August 2019 to April 2023, 137 patients underwent genetic testing. The median age at diagnosis was 60 years (range 36-85), 58.4 % were women, and 38.7 % were metastatic at diagnosis. The frequency of germline PVs was 16 % (n = 22): ATM 36.4 % (n = 8), CDKN2A/p16INK4A 27.3 % (n = 6), BRCA2 9.1 % (n = 2), PALB2 9.1 % (n = 2), CHEK2 9.1 % (n = 2), TP53 4.5 % (n = 1), and NF1 4.5 % (n = 1). Additionally, 2 carriers of monoallelic germline variants in MUTYH were identified. No significant differences were observed between carriers and non-carriers in terms of family history of pancreatic cancer. CONCLUSIONS: We identified a significant frequency of actionable germline PVs in Mexicans with PC, wherein the majority were in a broad spectrum of genes associated with the homologous recombination DNA repair mechanism. Most pancreatic cancer associated PVs were detected in non-BRCA genes, so our findings support the recommendation of multigene panel testing for genetic cancer risk assessment of Mexican individuals with PC.

19.
Surg Radiol Anat ; 2024 Sep 27.
Artigo em Inglês | MEDLINE | ID: mdl-39333309

RESUMO

INTRODUCTION: Knowledge of anatomical variants that affect the hepatic duct (HD) are of particular clinical relevance during hepatobiliary surgical procedures. More specifically, the aberrant anatomy of the common HD is the most common anatomical variation affecting the biliary tree. Below, we describe different classifications of anatomical variants that affect this canal. According to Huang's classification, variations are determined depending on the insertion of the right posterior hepatic duct (RPHD). MATERIALS AND METHODS: Medline, Scopus, Web of Science, Google Scholar, CINAHL, and LILACS databases were investigated until January 2024. The methodological quality was assessed with an anatomical studies assurance tool (AQUA). Pooled prevalence was estimated using a random effects model. For the subgroup analysis, Student's T-test was used. RESULTS: The prevalence rate of aberrant hepatic duct (AHD) was 15% (confidence interval [CI] of 7-22%). The first subgroup had cadavers and images. For the cadavers, the prevalence was 15.83% (CI: 11.22-18.3%), while the images had a prevalence of 22.06% (CI: 18.12-25.33%). This subgroup analysis showed no statistically significant difference between these groups (p = 0.127). The second subgroup comprised the continents where the included studies were from. In this subgroup, no statistically significant differences were found (p = 0.613). Finally, regarding the right or left laterality of the HD variant, there were no statistically significant differences (p = 0.089). CONCLUSION: A AHD corresponds to a finding that can occur in a significant percentage of our society, which could be an accidental discovery during surgeries or present asymptomatically throughout life and be a cadaveric discovery later. We believe it is important for surgeons to have prior knowledge of the possible variants of HD to prevent possible complications during and after surgery.

20.
Eur J Hum Genet ; 2024 Sep 27.
Artigo em Inglês | MEDLINE | ID: mdl-39333428

RESUMO

Pathogenic SOX11 variants have been associated with intellectual developmental disorder with microcephaly, and with or without ocular malformations or hypogonadotropic hypogonadism (HH) (IDDMOH, OMIM # 615866). In this article, we report seven new patients with de novo SOX11 variants. Five of the variants are missense, one nonsense, and one whole-gene deletion, most of them are novel variants. The main clinical features included neurodevelopmental delay (7/7) and intellectual disability (5/7), autism/attention deficit hyperactivity disorder (5/7), microcephaly (4/7), short stature (4/7), hypotonia (4/7), and clinodactyly of the 5th fingers (5/7). HH was confirmed in two female patients with primary amenorrhea, nonvisualized/prepubertal size of the uterus, and nonvisualized ovaries. Two of the male patients presented with micropenis, two had cryptorchidism, and one had decreased testicular size, which are suggestive findings of HH. This article contributes to the clinical characterization of patients with SOX11 variants and supports the role of this gene in HH.

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