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2.
Lancet Reg Health Am ; 36: 100798, 2024 Aug.
Article in English | MEDLINE | ID: mdl-38978784

ABSTRACT

Background: Young gay, bisexual, and other men who have sex with men (YMSM) in Latin America experience disproportionately high rates of HIV. While new case numbers have stabilised in other demographics, the incidence of HIV in this particular group continues to rise. We estimated the prevalence of HIV and sexually transmitted infections (STI) and identified correlates of new HIV diagnoses among YMSM in Brazil. Methods: Conectad@s was a respondent-driven sampling-based study to recruit and engage YMSM in HIV prevention and treatment services in Rio de Janeiro, Brazil (November 2021-October 2022). Eligibility criteria were age 18-24 years and self-identification as MSM (cis/trans) or non-binary person who have sex with men. Participants underwent HIV/STI testing and completed a socio-behavioural questionnaire. We described baseline characteristics by HIV status and used logistic regression models to identify correlates of new HIV diagnoses. Trial ID: DERR1-10.2196/34885. Findings: Among 409 participants, 370 (90.5%) self-identified as cisgender men, nine (2.2%) transgender men, and 30 (7.3%) non-binary. Median age was 21 years (IQR: 20-23), with 80 (19.6%) aged 18-19 years. Most self-identified as Black or Pardo (70.6%); 109 (26.7%) never tested for HIV. HIV prevalence was 9.8%; 50% (n = 20/40) were newly diagnosed with HIV. Only nine participants ever used PrEP and three were currently using it. Overall, 133 (32.5%) reported sexual violence in their lifetime and 102 (24.9%) reported a suicide attempt. Prevalence of active syphilis, chlamydia, and gonorrhoea were 14.4%, 15.9%, and 14.7%, respectively. New HIV diagnoses were positively associated with engaging in high-risk behaviour (aOR 4.88 [95% CI: 1.88-13.40]) and anxiety (aOR 2.67 [95% CI: 1.01-7.70]), and negatively associated with ever disclosing sexual orientation (aOR 0.19 [95% CI: 0.04-0.92]) and HIV knowledge (aOR 0.77 [95% CI: 0.59-1.01]). Interpretation: High prevalence of HIV coupled with a high proportion of new HIV diagnoses underscore a potentially growing HIV epidemic among YMSM in Brazil. Funding: National Institutes of Health (NIH), Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) and Ministry of Health of Brazil.

3.
Article in English | MEDLINE | ID: mdl-38994461

ABSTRACT

Objective: In Brazil, postpartum hemorrhage (PPH) is a major cause of maternal morbidity and mortality. Data on the profile of women and risk factors associated with PPH are sparse. This study aimed to describe the profile and management of patients with PPH, and the association of risk factors for PPH with severe maternal outcomes (SMO). Methods: A cross-sectional study was conducted in Instituto de Medicina Integral Prof. Fernando Figueira (IMIP) obstetric intensive care unit (ICU) between January 2012 and March 2020, including patients who gave birth at the hospital and that were admitted with PPH to the ICU. Results: The study included 358 patients, of whom 245 (68.4%) delivered in the IMIP maternity, and 113 (31.6%) in other maternity. The mean age of the patients was 26.7 years, with up to eight years of education (46.1%) and a mean of six prenatal care. Uterine atony (72.9%) was the most common cause, 1.6% estimated blood loss, 2% calculated shock index (SI), 63.9% of patients received hemotransfusion, and 27% underwent hysterectomy. 136 cases of SMO were identified, 35.5% were classified as maternal near miss and 3.0% maternal deaths. Multiparity was associated with SMO as an antepartum risk factor (RR=1.83, 95% CI1.42-2.36). Regarding intrapartum risk factors, abruptio placentae abruption was associated with SMO (RR=2.2 95% CI1.75-2.81). Among those who had hypertension (49.6%) there was a lower risk of developing SMO. Conclusion: The principal factors associated with poor maternal outcome were being multiparous and placental abruption.


Subject(s)
Postpartum Hemorrhage , Humans , Female , Cross-Sectional Studies , Postpartum Hemorrhage/therapy , Adult , Pregnancy , Risk Factors , Brazil/epidemiology , Intensive Care Units , Young Adult , Abruptio Placentae/epidemiology , Maternal Mortality
4.
Toxics ; 12(6)2024 Jun 19.
Article in English | MEDLINE | ID: mdl-38922121

ABSTRACT

Genetic polymorphisms may influence mercury (Hg) toxicity. The aims of this study were to evaluate individual factors, such as the presence of the GSTP1 rs1695 polymorphism, associated with internal Hg dose and child neurodevelopment in indigenous people from the Brazilian Amazon chronically exposed to Hg. Eighty-two indigenous children were clinically evaluated, hair Hg was measured, and the GSTP1 rs1695 polymorphism was genotyped. The mean age was 4.8 years, the median Hg was 5.5 µg/g, and 93.8% of children exceeded the safe limit (2.0 µg/g). Fish consumption was associated with Hg levels (p = 0.03). The GSTP1 rs1695 A>G polymorphism was in the Hardy-Weinberg equilibrium and the highest prevalence of the GSTP1 AA genotype (80%) was found in Sawré Aboy, which had the highest Hg levels (10 µg/g) among the studied villages. The Hg levels tended to increase over the years in males and in carriers of the GSTP1 AA genotype (0.69 µg/g and 0.86 µg/g, respectively). Nine children failed the neurodevelopmental test, all of whom had Hg > 2.0 µg/g, and 88.9% carried the GSTP1 AA or AG genotypes, previously associated with the highest internal Hg doses and neurocognitive disorders. The genetic counseling of this population is important to identify the individuals at greater risk for neurodevelopmental disorders resulting from chronic Hg exposure.

5.
Article in English | MEDLINE | ID: mdl-38928985

ABSTRACT

The hypothesis that physiological changes in women can affect periodontal tissues is the subject of this study, and inflammatory markers such as matrix metalloproteinase-8 can measure susceptibility to inflammation. The study aimed to analyze MMP-8 levels in periodontal sites of postpartum women and women without a history of pregnancy, comparing health parameters and periodontal disease. This is a case-control study with 40 participants, 20 cases (women in the postpartum period) and 20 controls (women without any pregnancy), who underwent clinical periodontal examination and the collection of crevicular gingival fluid. The ELISA test was used to detect MMP-8 levels. Postpartum women had worse periodontal parameters, such as bleeding index on probing, number of sites with CAL ≥ 3, and fewer teeth present. In the group of women without a history of pregnancy, a significantly lower MMP-8 level was observed in healthy sites and a higher one was observed in periodontal pockets (p < 0.01). In contrast, in postpartum women, MMP-8 levels were elevated in both healthy sites and periodontal pockets (p > 0.01). The MMP-8 levels in gingival fluid appear to be related to periodontal clinical parameters and may be a possible marker of enzymatic changes involved in periodontal tissue destruction in postpartum women.


Subject(s)
Gingival Crevicular Fluid , Matrix Metalloproteinase 8 , Postpartum Period , Humans , Female , Matrix Metalloproteinase 8/metabolism , Matrix Metalloproteinase 8/analysis , Adult , Case-Control Studies , Gingival Crevicular Fluid/enzymology , Pregnancy , Periodontal Diseases/enzymology , Biomarkers/metabolism , Young Adult
6.
Gene ; 927: 148722, 2024 Jun 22.
Article in English | MEDLINE | ID: mdl-38914244

ABSTRACT

Products from stingless bees are rich reservoirs of microbial diversity, including yeasts with fermentative potential. Previously, two Saccharomyces cerevisiae strains, JP14 and IP9, were isolated from Jataí (Tetragonisca angustula) and Iraí (Nannotrigona testaceicornis) bees, respectively, aiming at mead production. Both strains presented great osmotic and sulfite tolerance, and ethanol production, although they have a high free amino nitrogen demand. Herein, their genomes were sequenced, assembled, and annotated, and the variants were compared to the S. cerevisiae S288c reference strain. The final assembly of IP9 and JP14 presented high N50 and BUSCO scores, and more than 6430 protein-coding genes. Additionally, nQuire predicted the ploidy of IP9 as diploid, but the results were not enough to determine the ploidy of JP14. The mitochondrial genomes of IP9 and JP14 presented the same gene content as S288c but the genes were rearranged and fragmented in different patterns. Meanwhile, the genes with mutations of high impact (e.g., indels, gain of stop codon) for both yeasts were enriched for transmembrane transport, electron transfer, oxidoreductase, heme binding, fructose, mannose, and glucose transport, activities related to the respiratory chain and sugar metabolism. The IP9 strain presented copy number gains in genes related to sugar transport and cell morphogenesis; in JP14, genes were enriched for disaccharide metabolism and transport, response to reactive oxygen species, and polyamine transport. On the other hand, IP9 presented copy number losses related to disaccharide, thiamine, and aldehyde metabolism, while JP14 presented depletions related to disaccharide, oligosaccharide, asparagine, and aspartate metabolism. Notably, both strains presented a killer toxin gene, annotated from the assembling of unmapped reads, representing a potential mechanism for the control of other microorganisms population in the environment. Therefore, the annotated genomes of JP14 and IP9 presented a high selective pressure for sugar and nitrogen metabolism and stress response, consistent with their isolation source and fermentative properties.

8.
Prague Med Rep ; 125(2): 172-177, 2024.
Article in English | MEDLINE | ID: mdl-38761051

ABSTRACT

The neuropathic compression of the tibial nerve and/or its branches on the medial side of the ankle is called tarsal tunnel syndrome (TTS). Patients with TTS presents pain, paresthesia, hypoesthesia, hyperesthesia, muscle cramps or numbness which affects the sole of the foot, the heel, or both. The clinical diagnosis is challenging because of the fairly non-specific and several symptomatology. We demonstrate a case of TTS caused by medial dislocation of the talar bone on the calcaneus bone impacting the tibial nerve diagnosed only by ultrasound with the patient in the standing position.


Subject(s)
Talus , Tarsal Tunnel Syndrome , Ultrasonography , Humans , Joint Dislocations/diagnostic imaging , Joint Dislocations/diagnosis , Joint Dislocations/etiology , Talus/diagnostic imaging , Talus/abnormalities , Tarsal Tunnel Syndrome/etiology , Tarsal Tunnel Syndrome/diagnosis , Tarsal Tunnel Syndrome/diagnostic imaging , Ultrasonography/methods , Weight-Bearing
10.
Lancet Reg Health Am ; 33: 100737, 2024 May.
Article in English | MEDLINE | ID: mdl-38623451

ABSTRACT

Background: Several systems of oppression combine in complex ways to impact the lives of minority populations. Following an intersectionality framework, we assessed the frequency and perceived reasons for discrimination among gay, bisexual, and other cisgender men who have sex with men (MSM) and transgender and non-binary individuals (TGNB), stratified by race. Methods: Online survey among MSM and TGNB ≥18 years living in Brazil, between November/2021 and January/2022. We used the 18-item Explicit Discrimination Scale to assess day-to-day experiences of differential treatment, and perceived discrimination. For each item, participants indicated their perceived reasons for differential treatment using 14 pre-defined options. Negative binomial regression models assessed if race was a significant predictor of discrimination. Subsequent models, stratified by race, examined associations of perceived reasons and number of reasons with perceived discrimination. Findings: Of 8464 MSM and TGNB, 4961 (58.6%) were White, 2173 (25.7%) Pardo (Brazil's official term for admixed populations), and 1024 (12.1%) Black. Black participants' scores for perceived discrimination (mean, standard deviation) were higher (10.2, 8.8) [Pardo (6.5, 6.8), White (5.2, 5.7)], and race was both the main reason for and the strongest predictor of perceived discrimination. The number of reasons participants used to interpret their discriminatory experiences was also a predictor of discrimination score among White, Pardo, and Black participants. Interpretation: LGBTQIA+phobia was highly prevalent among all participants. Additionally, our results indicated that Black MSM and TGNB participants were more frequently discriminated against than other racial groups, with racial discrimination uniquely contributing these experiences. Funding: Fundação Oswaldo Cruz, Conselho Nacional de Desenvolvimento Científico e Tecnológico, Fundação Carlos Chagas Filho de Amparo à Pesquisa do Estado do Rio de Janeiro.

11.
Sci Rep ; 14(1): 6365, 2024 03 16.
Article in English | MEDLINE | ID: mdl-38493220

ABSTRACT

Leprosy is a chronic bacterial infection mainly caused by Mycobacterium leprae that primarily affects skin and peripheral nerves. Due to its ability to absorb carbon from the host cell, the bacillus became dependent on energy production, mainly through oxidative phosphorylation. In fact, variations in genes of Complex I of oxidative phosphorylation encoded by mtDNA have been associated with several diseases in humans, including bacterial infections, which are possible influencers in the host response to leprosy. Here, we investigated the presence of variants in the mtDNA genes encoding Complex I regarding leprosy, as well as the analysis of their pathogenicity in the studied cohort. We found an association of 74 mitochondrial variants with either of the polar forms, Pole T (Borderline Tuberculoid) or Pole L (Borderline Lepromatous and Lepromatous) of leprosy. Notably, six variants were exclusively found in both clinical poles of leprosy, including m.4158A>G and m.4248T>C in MT-ND1, m.13650C>A, m.13674T>C, m.12705C>T and m.13263A>G in MT-ND5, of which there are no previous reports in the global literature. Our observations reveal a substantial number of mutations among different groups of leprosy, highlighting a diverse range of consequences associated with mutations in genes across these groups. Furthermore, we suggest that the six specific variants exclusively identified in the case group could potentially play a crucial role in leprosy susceptibility and its clinical differentiation. These variants are believed to contribute to the instability and dysregulation of oxidative phosphorylation during the infection, further emphasizing their significance.


Subject(s)
Leprosy , Humans , Leprosy/genetics , Mycobacterium leprae/genetics , Skin , DNA, Mitochondrial , Antigens, Bacterial
12.
Toxicol Appl Pharmacol ; 484: 116874, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38428464

ABSTRACT

Melanoma is the most aggressive and deadly skin cancer. The difficulty in its treatment arises from its ability to suppress the immune system, making it crucial to find a substance that increases anti-tumor immunity. C-phycocyanin (C-PC) appears as a promising bioactive, with multifaceted effects against several cancers, but its efficacy against melanoma has only been tested in vitro. Therefore, we investigated C-PC's the anti-tumor and immunomodulatory action in a murine melanoma model. The tumor was subcutaneously induced in C57BL/6 mice by injecting B16F10 cells. The animals were injected subcutaneously with C-PC for three consecutive days. After euthanasia, the tumor was weighed and measured. The inguinal lymph node was removed, and the cells were stained with antibodies and analyzed by flow cytometry. The heart, brain and lung were analyzed by histopathology. C-PC increased the B cell population of the inguinal lymph node in percentage and absolute number. The absolute number of T lymphocytes and myeloid cells were also increased in the groups treated with C-PC. Thus, C-PC showed a positive immunomodulatory effect both animals with and without tumor. However, this effect was more pronounced in the presence of the tumor. Positive immune system modulation may be associated with a reduction in tumor growth in animals treated with C-PC. Administration of C-PC subcutaneously did not cause organ damage. Our findings demonstrate C-PC's immunomodulatory and anti-melanoma action, paving the way for clinical research with this bioactive.


Subject(s)
Melanoma , Skin Neoplasms , Animals , Mice , Phycocyanin/pharmacology , Phycocyanin/therapeutic use , Mice, Inbred C57BL , Skin Neoplasms/drug therapy , Immunomodulation
13.
Toxics ; 12(3)2024 Mar 01.
Article in English | MEDLINE | ID: mdl-38535926

ABSTRACT

Despite legal safeguards, the Yanomami community faces challenges such as unauthorized incursions by gold miners, resulting in environmental degradation, particularly from mercury. This jeopardizes the health and food security of indigenous individuals, especially due to the consumption of contaminated fish. Ethnic and racial disparities persist in indigenous healthcare, marked by troubling health indicators such as malnutrition, anemia, and infectious diseases. This cross-sectional study, conducted in October 2022 in the Yanomami Indigenous Territory in the Amazon Forest, Brazil, presented clinical, laboratory, and neurodevelopmental findings in Yanomami children chronically exposed to methylmercury. The results revealed that Yanomami children exhibited weights and heights below expectations (median Z-scores of -1.855 for weight for age and -2.7 for height for age), a high prevalence of anemia (25%), low vaccination coverage (15%), and low IQ (average 68.6). The Total Hair Mercury (Total Hg) levels ranged from 0.16 µg/g to 10.20 µg/g (mean: 3.30 µg/g; median: 3.70 µg/g). Of 117 children tested, 93 children (79.4%) had levels ≥ 2.0 µg/g (had no significant difference between sex). Among the 58 children for whom it was possible to estimate the Total Intelligence Quotient (TIQ), the average value was 68.6, ranging from 42 to 92 points (median: 69.5; standard deviation: 10.5). Additionally, the lowest score on the IQ test was associated with 5 times the risk of having high levels of mercury in their hair, 2,5 fold the risk of having an older age, and almost 8 times the risk of consuming fish, adjusting for nut consumption. Notwithstanding the study's limitations, results suggest that mercury contamination from illegal mining activities on indigenous lands may negatively impact neurodevelopment in older indigenous children, particularly those fish consumers, despite the inherent benefits of fish consumption. Addressing other socio-environmental concerns is crucial for enhancing the overall health of the population.

14.
Nat Commun ; 15(1): 2175, 2024 Mar 11.
Article in English | MEDLINE | ID: mdl-38467646

ABSTRACT

In the ENSEMBLE randomized, placebo-controlled phase 3 trial (NCT04505722), estimated single-dose Ad26.COV2.S vaccine efficacy (VE) was 56% against moderate to severe-critical COVID-19. SARS-CoV-2 Spike sequences were determined from 484 vaccine and 1,067 placebo recipients who acquired COVID-19. In this set of prespecified analyses, we show that in Latin America, VE was significantly lower against Lambda vs. Reference and against Lambda vs. non-Lambda [family-wise error rate (FWER) p < 0.05]. VE differed by residue match vs. mismatch to the vaccine-insert at 16 amino acid positions (4 FWER p < 0.05; 12 q-value ≤ 0.20); significantly decreased with physicochemical-weighted Hamming distance to the vaccine-strain sequence for Spike, receptor-binding domain, N-terminal domain, and S1 (FWER p < 0.001); differed (FWER ≤ 0.05) by distance to the vaccine strain measured by 9 antibody-epitope escape scores and 4 NTD neutralization-impacting features; and decreased (p = 0.011) with neutralization resistance level to vaccinee sera. VE against severe-critical COVID-19 was stable across most sequence features but lower against the most distant viruses.


Subject(s)
Ad26COVS1 , COVID-19 , Humans , COVID-19/prevention & control , SARS-CoV-2 , Vaccine Efficacy , Amino Acids , Antibodies, Viral , Antibodies, Neutralizing
15.
J Hand Ther ; 2024 Feb 10.
Article in English | MEDLINE | ID: mdl-38342638

ABSTRACT

INTRODUCTION: The capitate is the largest, most central bone and the first to ossify in the wrist. It has a well-protected anatomic location, making traumatic or stress fractures extremely rare in clinical practice. Isolated fractures of the capitate bone are very uncommon and often without displacement due to the great stability provided by the intracarpal ligaments. PURPOSE OF THE STUDY: This study aimed to report a case of isolated stress fracture of the capitate related to the work activity of a mechanic. CASE REPORT: We report the case of a 23-year-old patient complaining of pain and swelling in the left wrist for 2 months without improvement after using analgesics. On physical examination, he presented pain on palpation in the central region of the wrist, pain when performing flexion and extension movements of the wrist, and frustrated edema. Magnetic resonance imaging diagnosed a stress fracture of the capitate bone. Conservative treatment with forearm-palmar immobilization for 2 months, analgesic medication, and physical therapy rehabilitation after immobilization were performed. After the complete resolution of the symptoms, the patient started to work in a new role. DISCUSSION: There are five case reports of stress fractures in the capitate-two in teenagers and three in adults, but none of them was a mechanic. Clinical suspicion can be formulated when repetitive activity is associated with the wrist in extension and specific location of pain and swelling. Individuals with an immature skeleton are more susceptible. The development of occupational disease should be considered in similar cases of insidious and persistent pain in the palm of people with high work demands. CONCLUSION: Stress fractures of the capitate bone are a disease that must be suspected in insidious and persistent pain in the palm of the hand. Magnetic resonance imaging is the best image test to diagnose this disorder, and conservative treatment is indicated.

16.
AIDS ; 38(1): 105-113, 2024 01 01.
Article in English | MEDLINE | ID: mdl-37812389

ABSTRACT

OBJECTIVES: This study aimed to analyze characteristics of mpox hospitalization in a Brazilian cohort, further exploring the impact of HIV on mpox-related outcomes and hospitalization. DESIGN: We conducted a descriptive analysis, comparing characteristics of individuals diagnosed with mpox according to hospitalization and HIV status, and described the mpox cases among those living with HIV. METHODS: This was a single-center, prospective cohort study conducted at a major infectious diseases referral center in Rio de Janeiro, Brazil, that enrolled participants older than 18 years of age diagnosed with mpox. Information was collected on standardized forms, including data on sociodemographic, behavioral, clinical and laboratory characteristics. For comparisons, we used chi-squared, Fisher's exact and the Moods median tests whenever appropriate. RESULTS: From June to December, 2022, we enrolled 418 individuals diagnosed with mpox, of whom 52% were people with HIV (PWH). PWH presented more frequently with fever, anogenital lesions and proctitis. The overall hospitalization rate was 10.5% ( n  = 43), especially for pain control. Among hospitalized participants, PWH had more proctitis and required invasive support. Mpox severity was related to poor HIV continuum of care outcomes and low CD4 + cell counts. All deaths ( n  = 2) occurred in PWH with CD4 + less than 50 cells/µl. CONCLUSION: HIV-related immunosuppression likely impacts mpox clinical outcomes. This is of special concern in settings of poor adherence and late presentation to care related to socioeconomic inequalities, such as Brazil. The HIV continuum of care must be taken into account when responding to the mpox outbreak.


Subject(s)
HIV Infections , Mpox (monkeypox) , Proctitis , Humans , Brazil/epidemiology , Prospective Studies , HIV Infections/complications , Immunosuppression Therapy , Hospitalization
17.
J Crit Care ; 79: 154451, 2024 02.
Article in English | MEDLINE | ID: mdl-37871403

ABSTRACT

PURPOSE: The goal of this study was to investigate severe central nervous system infections (CNSI) in adults admitted to the intensive care unit (ICU). We analyzed the clinical presentation, causes, and outcomes of these infections, while also identifying factors linked to higher in-hospital mortality rates. MATERIALS AND METHODS: We conducted a retrospective multicenter study in Rio de Janeiro, Brazil, from 2012 to 2019. Using a prediction tool, we selected ICU patients suspected of having CNSI and reviewed their medical records. Multivariate analyses identified variables associated with in-hospital mortality. RESULTS: In a cohort of 451 CNSI patients, 69 (15.3%) died after a median 11-day hospitalization (5-25 IQR). The distribution of cases was as follows: 29 (6.4%) had brain abscess, 161 (35.7%) had encephalitis, and 261 (57.8%) had meningitis. Characteristics: median age 41 years (27-53 IQR), 260 (58%) male, and 77 (17%) HIV positive. The independent mortality predictors for encephalitis were AIDS (OR = 4.3, p = 0.01), ECOG functional capacity limitation (OR = 4.0, p < 0.01), ICU admission from ward (OR = 4.0, p < 0.01), mechanical ventilation ≥10 days (OR = 6.1, p = 0.04), SAPS 3 ≥ 55 points (OR = 3.2, p = 0.02). Meningitis: Age > 60 years (OR = 234.2, p = 0.04), delay >3 days for treatment (OR = 2.9, p = 0.04), mechanical ventilation ≥10 days (OR = 254.3, p = 0.04), SOFA >3 points (OR = 2.7, p = 0.03). Brain abscess: No associated factors found in multivariate regression. CONCLUSIONS: Patients' overall health, prompt treatment, infection severity, and prolonged respiratory support in the ICU all significantly affect in-hospital mortality rates. Additionally, the implementation of CNSI surveillance with the used prediction tool could enhance public health policies.


Subject(s)
Brain Abscess , Central Nervous System Infections , Encephalitis , Meningitis , Adult , Humans , Male , Middle Aged , Female , Retrospective Studies , Brazil/epidemiology , Critical Care , Intensive Care Units , Hospital Mortality , Central Nervous System Infections/epidemiology , Meningitis/epidemiology
18.
Hum Genomics ; 17(1): 110, 2023 Dec 08.
Article in English | MEDLINE | ID: mdl-38062538

ABSTRACT

BACKGROUND: In recent years, the mitochondria/immune system interaction has been proposed, so that variants of mitochondrial genome and levels of heteroplasmy might deregulate important metabolic processes in fighting infections, such as leprosy. METHODS: We sequenced the whole mitochondrial genome to investigate variants and heteroplasmy levels, considering patients with different clinical forms of leprosy and household contacts. After sequencing, a specific pipeline was used for preparation and bioinformatics analysis to select heteroplasmic variants. RESULTS: We found 116 variants in at least two of the subtypes of the case group (Borderline Tuberculoid, Borderline Lepromatous, Lepromatous), suggesting a possible clinical significance to these variants. Notably, 15 variants were exclusively found in these three clinical forms, of which five variants stand out for being missense (m.3791T > C in MT-ND1, m.5317C > A in MT-ND2, m.8545G > A in MT-ATP8, m.9044T > C in MT-ATP6 and m.15837T > C in MT-CYB). In addition, we found 26 variants shared only by leprosy poles, of which two are characterized as missense (m.4248T > C in MT-ND1 and m.8027G > A in MT-CO2). CONCLUSION: We found a significant number of variants and heteroplasmy levels in the leprosy patients from our cohort, as well as six genes that may influence leprosy susceptibility, suggesting for the first time that the mitogenome might be involved with the leprosy process, distinction of clinical forms and severity. Thus, future studies are needed to help understand the genetic consequences of these variants.


Subject(s)
Genome, Mitochondrial , Leprosy , Humans , Heteroplasmy , Genome, Mitochondrial/genetics , Leprosy/genetics , Mitochondria/genetics
19.
Acta Ortop Bras ; 31(6): e271857, 2023.
Article in English | MEDLINE | ID: mdl-38115879

ABSTRACT

Objective: To describe the efficacy of using viscosupplementation in patients with hemophilic arthropathy (HA), on pain, limb functionality, and quality of life. Methods: A systematic review of the literature was performed following the PRISMA guidelines without limitations of language or year of publication. The search was performed on the following medical databases: PubMed, Cochrane Library, EMBASE, BVS/BIREME, Scopus, Web of Science, EBSCOhost, and PROQUEST in April 2020. The search used the following word: (hemophilia AND joint diseases) OR (haemophilic arthropathy OR hemophilic arthropathy) AND viscosupplementation. Results: The systematic review identified 127 articles, 10 of which were selected for data extraction and qualitative analysis. The 10 selected articles included 297 joints with HA in 177 hemophilic subjects. Our review showed positive results in alleviating pain and improving functional capacity, and quality of life. No major adverse effects were observed. Conclusion: There is a lack of scientific evidence regarding viscosupplementation with hyaluronic acid, but the results presented in this research suggest that it is an effective and safe therapeutic option to alleviate pain and improve functional capacity in patients with HA. Level of Evidence II, Systematic Review.


Objetivo: Descrever o uso da viscossuplementação com ácido hialurônico em pacientes com artropatia hemofílica (HA), sua eficácia na dor, a funcionalidade do membro e a qualidade de vida após sua aplicação. Métodos: Revisão sistemática da literatura (RSL) que seguiu as diretrizes PRISMA, sem limitação de idioma ou ano de publicação. A pesquisa foi realizada em abril de 2020 nas seguintes bases de dados médicas: PubMed, Cochrane Library, EMBASE, BVS/BIREME, Scopus, Web of Science, EBSCOhost e ProQuest. A estratégia de pesquisa foi: (hemofilia AND joint disease) OR (artropatia hemofílica OU artropatia hemofílica) E viscossuplementação. Resultados: A RSL identificou 127 artigos, dos quais 10 foram selecionados para extração de dados e análise qualitativa. Os 10 artigos selecionados incluíram 297 articulações com AH em 177 indivíduos hemofílicos. Nossa revisão mostrou resultados positivos na melhora da dor, na capacidade funcional e na qualidade de vida. Não foram observados efeitos adversos importantes. Conclusão: A evidência científica atual a respeito da viscossuplementação com ácido hialurônico é escassa, mas os resultados apresentados nesta pesquisa sugerem que é uma opção terapêutica eficaz e segura para diminuir a dor e melhorar a capacidade funcional em pacientes com AH. Nível de Evidência II, Revisão Sistemática.

20.
Front Genet ; 14: 1295586, 2023.
Article in English | MEDLINE | ID: mdl-38116294

ABSTRACT

Leprosy is an infectious disease primarily caused by the obligate intracellular parasite Mycobacterium leprae. Although it has been considered eradicated in many countries, leprosy continues to be a health issue in developing nations. Besides the social stigma associated with it, individuals affected by leprosy may experience nerve damage leading to physical disabilities if the disease is not properly treated or early diagnosed. Leprosy is recognized as a complex disease wherein socioenvironmental factors, immune response, and host genetics interact to contribute to its development. Recently, a new field of study called epigenetics has emerged, revealing that the immune response and other mechanisms related to infectious diseases can be influenced by noncoding RNAs. This review aims to summarize the significant advancements concerning non-coding RNAs in leprosy, discussing the key perspectives on this novel approach to comprehending the pathophysiology of the disease and identifying molecular markers. In our view, investigations on non-coding RNAs in leprosy hold promise and warrant increased attention from researches in this field.

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