Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 38
Filtrar
1.
bioRxiv ; 2024 Jun 17.
Artigo em Inglês | MEDLINE | ID: mdl-38948790

RESUMO

Background: The first year of life is a period of rapid immune development that can impact health trajectories and the risk of developing respiratory-related diseases, such as asthma, recurrent infections, and eczema. However, the biology underlying subsequent disease development remains unknown. Methods: Using weighted gene correlation network analysis (WGCNA), we derived modules of highly correlated immune-related proteins in plasma samples from children at age 1 year (N=294) from the Vitamin D Antenatal Asthma Reduction Trial (VDAART). We applied regression analyses to assess relationships between protein modules and development of childhood respiratory diseases up to age 6 years. We then characterized genomic, environmental, and metabolomic factors associated with modules. Results: WGCNA identified four protein modules at age 1 year associated with incidence of childhood asthma and/or recurrent wheeze (Padj range: 0.02-0.03), respiratory infections (Padj range: 6.3×10-9-2.9×10-6), and eczema (Padj=0.01) by age 6 years; three modules were associated with at least one environmental exposure (Padj range: 2.8×10-10-0.03) and disrupted metabolomic pathway(s) (Padj range: 2.8×10-6-0.04). No genome-wide SNPs were identified as significant genetic risk factors for any protein module. Relationships between protein modules with clinical, environmental, and 'omic factors were temporally sensitive and could not be recapitulated in protein profiles at age 6 years. Conclusion: These findings suggested protein profiles as early as age 1 year predicted development of respiratory-related diseases through age 6 and were associated with changes in pathways related to amino acid and energy metabolism. These may inform new strategies to identify vulnerable individuals based on immune protein profiling.

2.
Artigo em Inglês | MEDLINE | ID: mdl-38648977

RESUMO

Patient-reported outcomes (PROs) are measures of patients' health that are conveyed directly by individual patients. These measures serve as instruments to evaluate the impact of interventions on any aspect of patients' health, from specific symptoms to broader quality of life indicators. However, their effectiveness relies on capturing relevant factors accurately. Whereas they are commonly used in clinical trials, PROs extend their influence across health care settings, informing clinicians, health care payers, regulators, and administrators to guide quality improvement and reimbursement decisions. Neglecting health equity considerations in PRO development and implementation widens health disparities, leading to biased interpretations, medical mismanagement, and poor health outcomes among marginalized groups. To foster equitable health care, efforts must focus on considering the values of underrepresented populations in PRO design, addressing barriers to completion, enhancing representation in research, providing cultural competency training for clinicians, and allocating research funding to support health equity research. By addressing these issues, advances can be made toward fostering inclusive, equitable health care for all individuals.

3.
Animals (Basel) ; 14(4)2024 Feb 18.
Artigo em Inglês | MEDLINE | ID: mdl-38396617

RESUMO

This study aimed to investigate the combined effects of ascorbic acid (VC) and acetylsalicylic acid (ASA) on broiler health and performance. A total of 200 Ross 308 male broilers were divided into five groups, each receiving different dietary combinations of ASA and VC (ASA: 50 or 100 mg/kg; VC: 200 or 400 mg/kg). The 42-day trial assessed parameters such as feed intake, average daily gain (ADG), feed conversion ratio (FCR), carcass characteristics, serum parameters, immune response and cecal microbial flora. The results indicate significant treatment effects on feed intake and growth performance, with a higher feed intake of ADG and FCR in treatment groups (p < 0.05). Serum lipid parameters were unaffected, but creatine kinase increased with ASA and VC intake (p < 0.05). Changes in sheep red blood cell titers and influenza antibodies were noted (p < 0.05). The combination of ASA and VC positively influenced carcass traits, reducing abdominal fat and altering the ratio of immune response organs to body weight (p < 0.05). Additionally, the cecal E. coli count decreased with treatment (p < 0.05). This study underscores the intricate interactions between ASA and VC supplementation, growth performance and carcass composition and immune response in broilers. Further research is warranted to explore dosage nuances and variations under specific stress conditions.

4.
Ann Am Thorac Soc ; 21(2): 279-286, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38054759

RESUMO

Rationale: The role and timing of vitamin D supplementation in the prevention of asthma has not been fully elucidated. Objective: To describe the association between prenatal and postnatal vitamin D with offspring asthma outcomes in participants of the Vitamin D Antenatal Asthma Reduction Trial. Methods: We classified 748 mother-offspring pairs into four groups based on the mother's randomization to receive high-dose versus low-dose (4,400 IU vs. 400 IU) vitamin D supplementation during pregnancy and the offspring parent-reported high-dose versus low-dose (⩾400 IU vs. <400 IU) vitamin D supplementation as estimated by intake of vitamin D drops or infant formula. We used logistic regression to test the association of the four vitamin D exposure groups-"mother-low/infant-low (reference)," "mother-high/infant-high," "mother-high/infant-low," and "mother-low/infant-high"-with offspring asthma and/or recurrent wheeze at age 3 years, active asthma at age 6 years, and atopic asthma at age 6 years. Results: The risk of asthma and/or recurrent wheeze at 3 years was lowest in the mother-high/infant-low group (adjusted odds ratio vs. mother-low/infant-low, 0.39; 95% confidence interval, 0.16-0.88, P = 0.03). When stratifying by history of exclusive breastfeeding until age 4 months, the protective effect in the mother-high/infant-low group was seen only among exclusively breastfed infants (odds ratio vs. mother-low/infant-low, 0.19; 95% confidence interval, 0.04-0.68; P = 0.02). We did not observe any significant associations with active or atopic asthma at age 6 years. Conclusions: We observe that high-dose prenatal and low-dose postnatal vitamin D supplementation may be associated with reduced offspring asthma or recurrent wheeze by age 3 years, but this association may be confounded by the protective effect of breastfeeding.


Assuntos
Asma , Vitamina D , Lactente , Feminino , Humanos , Gravidez , Pré-Escolar , Criança , Suplementos Nutricionais , Vitaminas , Asma/epidemiologia , Asma/prevenção & controle , Família , Sons Respiratórios
5.
J Leukoc Biol ; 114(6): 672-683, 2023 11 24.
Artigo em Inglês | MEDLINE | ID: mdl-37820030

RESUMO

Neutrophils infiltrate several types of cancer; however, whether their presence is associated with disease progression remains controversial. Here, we show that colon tumors overexpress neutrophil chemoattractants compared to healthy tissues, leading to their recruitment to the invasive margin and the central part of colon tumors. Of note, tumor-associated neutrophils expressing tumor necrosis factor α, which usually represents an antitumoral phenotype, were predominantly located in the invasive margin. Tumor-associated neutrophils from the invasive margin displayed an antitumoral phenotype with higher ICAM-1 and CD95 expression than neutrophils from healthy adjacent tissues. A higher neutrophil/lymphocyte ratio was found at later stages compared to the early phases of colon cancer. A neutrophil/lymphocyte ratio ≤3.5 predicted tumor samples had significantly more neutrophils at the invasive margin and the central part. Moreover, tumor-associated neutrophils at the invasive margin of early-stage tumors showed higher ICAM-1 and CD95 expression. Coculture of colon cancer cell lines with primary neutrophils induced ICAM-1 and CD95 expression, confirming our in situ findings. Thus, our data demonstrate that tumor-associated neutrophils with an antitumoral phenotype characterized by high ICAM-1 and CD95 expression infiltrate the invasive margin of early-stage colon tumors, suggesting that these cells can combat the disease at its early courses. The presence of tumor-associated neutrophils with antitumoral phenotype could help predict outcomes of patients with colon cancer.


Assuntos
Neoplasias do Colo , Neutrófilos , Humanos , Neutrófilos/metabolismo , Molécula 1 de Adesão Intercelular/metabolismo , Neoplasias do Colo/patologia , Fenótipo
7.
J Allergy Clin Immunol Pract ; 11(11): 3356-3364, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37536500

RESUMO

The growing dependence on social media for health-related information boomed during the COVID-19 pandemic, posing unprecedented challenges in navigating the vast amounts of information available right at our fingertips. Social media had a major impact on clinical decision-making affecting individuals, communities, and societies at large. In this review, we discuss the role of social media in amplifying information and misinformation as well as factors contributing to its reliance and prevalence. We review how medical providers have been impacted by this changing landscape, useful communication strategies to employ with in-office patient encounters, and how we can be active players in using social media as a tool for health promotion, correcting misinformation, and preparing for future pandemics.


Assuntos
COVID-19 , Mídias Sociais , Humanos , Pandemias , Emoções , Tomada de Decisão Clínica , Comunicação
8.
Contemp Clin Trials ; 130: 107215, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-37164298

RESUMO

INTRODUCTION: From diagnosis to post-treatment, many young breast cancer survivors (YBCS) experience infertility, limited contraception choices, concern about pregnancy safety, and menopausal symptoms. Clinical guidelines recommend oncofertility care (counseling and/or clinical services that meet fertility, contraception, pregnancy health and/or menopausal symptom management needs) throughout the cancer care continuum. However, significant oncofertility care gaps exist in rural, community oncology settings. MATERIALS AND METHODS: We describe the design of an interrupted time series, effectiveness-implementation hybrid clinical trial that evaluates a multi-component intervention to improve YBCS engagement in oncofertility care. The intervention is comprised of 1) oncology clinic-based oncofertility needs screen; 2) a women's health survivorship care plan in Spanish and English; 3) remote patient navigation; and 4) telehealth oncofertility consultation. During the pre-intervention period (12 months), usual care will be delivered. During the intervention period (15 months), the multi-component intervention will be implemented at two rural oncology clinics with largely Latina, Spanish-speaking populations. The primary outcome of YBCS (n = 135) engagement in oncofertility care will be collected from medical record review. We will also collect validated patient-reported outcomes. Informed by the Exploration Preparation Implementation Sustainment (EPIS) implementation science framework, we will integrate qualitative and quantitative data to explore whether and how the intervention was effective, acceptable, appropriate, and delivered with fidelity. DISCUSSION: Our overall goal is to speed implementation of a scalable oncofertility care intervention for YBCS in underserved areas to reduce disparities and improve reproductive health and quality of life. TRIAL REGISTRATION: Clinicaltrials.gov Identifier: NCT05414812.


Assuntos
Neoplasias da Mama , Sobreviventes de Câncer , Feminino , Humanos , Gravidez , Aconselhamento , Qualidade de Vida , Saúde da Mulher
9.
Antioxidants (Basel) ; 12(2)2023 Feb 10.
Artigo em Inglês | MEDLINE | ID: mdl-36830014

RESUMO

A feeding trial was performed to assess the effects of dietary raw amaranth (Amaranthus hybridus chlorostachys) grain (RAG), with or without an enzyme blend, on the productive performance, blood biochemistry, and antioxidant status in laying hens. The trial was conducted following a completely randomized design by factorial method, including five levels of RAG (0, 10, 20, 30, and 40%, respectively) and two levels of enzyme blend (0 -E and 0.025 +E %). A total of 960 White Leghorn (Hy-line W-36) laying hens (56 weeks of age) were divided into 10 groups with eight repetitions, including 12 birds. The trial period was ten weeks. Results showed that RAG levels in feed (>10%) led to a significant decrease in blood total cholesterol (TC), but they also significantly decreased feed conversion ratio (FCR) (p ˂ 0.05) as measured by feed intake (FI), hen daily production (HDP), egg weight (EW), and mass (EM), leading to overall worse productivity compared to the control group. On the contrary, the addition of the enzyme blend led to an improvement in the investigated production traits (p ˂ 0.05), with the exception of HDP. The enzyme blend was also capable of recovering productive performance when combined with low concentrations of RAG (10%) (p ˂ 0.05), and RAG × enzyme blend groups showed the lowest values of TC (p ˂ 0.05). Moreover, the interaction effects for atherogenic index (LDL/HDL) indicated a significant and promising reduction in response to the addition of RAG both in the presence and absence of the enzyme blend (p ˂ 0.05), and this additive also significantly reduced levels of egg yolk cholesterol (p ˂ 0.05). In summary, the evidence gathered in this trial showed that dietary RAG had positive effects on egg quality characteristics, leading to the production of low-cholesterol eggs, and, at the same time, it may improve the health status of laying hens. Furthermore, the addition of an enzyme blend allowed feeding up to 10% RAG in the diet, leading to an optimal balance between animal productivity and the beneficial effects of RAG.

10.
Anim Biotechnol ; 34(7): 3046-3052, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36227283

RESUMO

A total of 320 one-day-old broiler chickens were used in a 42-day feeding trial to evaluate the effects of peppermint (Mentha piperita L.) and chicory (Cichorium intybus L.) in comparison with a prebiotic on-growth performance, blood constitutes, immunity and intestinal microflora. The dietary treatments were as follows: basal diet (control); control + prebiotic (Fermacto™); control + 0.1% peppermint; control + 0.1% chicory, respectively. A significant (p < 0.05) body weight gain and feed intake was found at 21 and 42 days of growth period in broilers fed diet supplemented with 0.1% chicory compared with other groups. Feeding of prebiotic or chicory led to higher (p < 0.05) feed intake. Chickens fed control diet had higher (p < 0.05) abdominal fat compared with the other groups. Serum blood constituents indicated that broilers fed prebiotic or supplemented with peppermint or chicory had reduced (p < 0.05) levels of cholesterol, triglycerides and low-density lipoprotein than control group. Immunity-related parameters showed that chicken fed chicory had lower (p < 0.05) heterophil-to-lymphocyte ratio compared with the other groups. Intestinal microflora revealed that chickens fed prebiotic or herbals had higher count of Lactobacillus and lower E. coli than control. Thus, it can be concluded that broiler dietary supplementation with prebiotic or chicory can improve performance supporting positively health status.


Assuntos
Cichorium intybus , Microbioma Gastrointestinal , Animais , Prebióticos , Galinhas , Mentha piperita , Escherichia coli , Suplementos Nutricionais , Dieta/veterinária , Ração Animal/análise
11.
Animals (Basel) ; 12(22)2022 Nov 12.
Artigo em Inglês | MEDLINE | ID: mdl-36428351

RESUMO

The objective of this study was to investigate the effects of feeding Amaranthus hybridus chlorostachys grain (AG) with (+E) and without enzyme (−E) on performance, egg quality, antioxidant status and lipid profile of blood serum and yolk cholesterol in laying hens. A total of 960 white leghorn (Hy-line W-36) commercial layers (56 weeks) were divided into 10 groups with 8 replicates per group (12 birds per replicate, including 3 adjacent cages with 4 birds each). A completely randomized design was implemented with a 5 × 2 factorial arrangement of treatments consisting of five levels of AG (0, 100, 200, 300 and 400 g/kg) and two levels of multienzyme complex addition (0 −E and 0.25 +E g/kg) fed to the hens for 12 weeks (2 wk. adaptation + 10 wk. main experiment). Feed intake (FI) and percentage of hen day production (HDP) were not affected by main effect of the AG level, but egg mass (EM) and egg weight (EW) were decreased (p < 0.01), and the feed conversion ratio (FCR) was impaired (p < 0.01). EM, EW and FCR were improved by enzyme addition (p < 0.01). EM, EW and FCR were affected (p < 0.01) by the interaction of AG and enzyme addition. The highest value of EM and the lowest value of FCR were observed in hens on the diet containing 200 g/kg AG with enzyme addition. Egg yolk cholesterol content was reduced (p < 0.05) by up to 10% with increasing levels AG in experimental diets. The egg quality traits, including Haugh units of protein quality, strength and shell thickness, were not affected by the main effects or interaction of AG and enzyme consumption. Amaranth feeding led to a decrease (p < 0.05) in triglyceride (TG) and low-density lipoprotein (LDL) while also promoting increases (p < 0.05) in the high-density lipoprotein (HDL) and total antioxidant capacity (TAC) of the blood. A comparison of the effects of contrasts showed that functional parameters (except FI), yolk cholesterol, antioxidant parameters (except MDA) and blood lipid profile had differed significantly (p < 0.05) between the hens fed amaranth versus those not fed amaranth. These findings indicate that feeding a diet containing up to 200 g/kg of AG with enzyme addition can improve EW, EM and FCR. Feeding laying hens diets containing AG also positively influenced blood traits and antioxidant status in laying hens while reducing egg yolk cholesterol content.

13.
Case Rep Oncol ; 13(2): 633-642, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32774248

RESUMO

Melanoma metastasis from an unknown primary cancer has an incidence of 3.2% among melanoma patients. Furthermore, paraneoplastic neurological syndromes (PNS) are rare, occurring in 1-3% of patients with malignancies. Paraneoplastic cerebellar degeneration (PCD) is one of the classic PNS and is characterized by acute or subacute onset of ataxia and/or presence of onconeural antibodies. A 61-year-old male with ataxia, vertigo, and headache later developed dysarthria, multidirectional nystagmus, hyperactive delirium, auditory hallucinations, psychomotor agitation, and myoclonus. Toxicological, metabolic, infectious, and autoimmune etiologies were assessed and reported negative. An osteolytic lesion was observed in the right iliac crest via computed tomography (CT). A positron emission tomography-CT reported increased fluorodeoxyglucose uptake of a right iliac and right inguinal ganglion. After biopsy of the right inguinal ganglion, a BRAF mutation-positive melanoma metastasis from an occult primary cancer was diagnosed. Dermatologic, ophthalmologic, and endoscopic gastrointestinal assessment did not reveal a primary malignant melanoma. The patient's movement disorders and neuropsychiatric symptoms improved with quetiapine, prednisone, azathioprine, and cyclophosphamide. Oncological management was conducted with MAPK pathway inhibitors (i.e., dabrafenib and trametinib). Movement disorders associated with neuropsychiatric symptoms are complex to diagnose. PNS are rare and often associated with antibodies against neural antigens expressed by the tumor. The case presented above describes a patient with a BRAF-positive malignant melanoma metastasis from an occult primary associated with PCD - to the best of our knowledge, the first reported in the literature.

14.
J Clin Immunol ; 40(7): 1020-1025, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32778990

RESUMO

Activated PI3K δ syndrome (APDS) is a primary immunodeficiency caused by heterogeneous germline gain-of-function mutations which ultimately lead to the hyperactivation of the phosphoinositide-3-kinase δ (PI3K δ). PI3K δ exists as a heterodimer composed of a catalytic and a regulatory subunit. APDS type 2 is caused by mutations in the PIK3R1 gene affecting the p85α regulatory subunit. SHORT syndrome is a rare multisystem disorder characterized by short stature, hyperextensible joints, ocular depression, Rieger anomaly, and tooth eruption delay. The primary causes of SHORT syndrome are heterozygous loss-of-function mutations in the PIK3R1 gene. The combination of APDS2 and SHORT syndrome is rare, with few cases reported to date. Here we describe a 17-year-old female with phenotypic features consistent with SHORT syndrome and history of sinopulmonary infections and hypogammaglobulinemia. Invitae immunodeficiency panel genetic testing revealed a pathogenic loss-of-function variant in an intronic splice site in the gene PIK3R1 (c.1425 + 1G > C). This pathogenic variant had been previously associated with APDS2; however, it had not been associated with SHORT syndrome. The exact mechanisms linking both conditions are yet to be identified. This case report emphasizes the importance of screening for comorbidities associated with SHORT syndrome in APDS2 patients and vice versa.


Assuntos
Classe Ia de Fosfatidilinositol 3-Quinase/genética , Variação Genética , Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/genética , Hipercalcemia/diagnóstico , Hipercalcemia/genética , Doenças Metabólicas/diagnóstico , Doenças Metabólicas/genética , Nefrocalcinose/diagnóstico , Nefrocalcinose/genética , Doenças da Imunodeficiência Primária/diagnóstico , Doenças da Imunodeficiência Primária/genética , Adolescente , Alelos , Classe I de Fosfatidilinositol 3-Quinases/genética , Feminino , Testes Genéticos , Genótipo , Humanos , Mutação , Fenótipo
15.
Rev. cuba. reumatol ; 22(2): e762, mayo.-ago. 2020. tab, graf
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1126804

RESUMO

La esclerosis sistémica (ES) es una enfermedad de causa desconocida, que se caracteriza por una producción exagerada de moléculas que componen la matriz extracelular. La disminución en la producción de óxido nítrico por las células endoteliales de la microvasculatura parece desempeñar un papel central en la patogenia de la enfermedad. Los resultados alcanzados en un estudio de serie de casos de un universo de 44 pacientes y muestra de 31, con baja incidencia de las causas neoplásicas en la muerte y como reacciones secundarias a tratamiento inmunosupresor con ciclofosfamida, según la conducta terapéutica aplicada, fue el motivo para la presentación de este trabajo, que reflejó la posible relación entre la esclerosis sistémica y las neoplasias. Se concluyó que la relación entre autoinmunidad y cáncer puede ser el resultado de un origen etiológico común (genético, hormonal, metabólico o factores ambientales) o un mecanismo de síndrome paraneoplásico. La enfermedad es terreno de riesgo para la ocurrencia de neoplasias, así como las neoplasias pueden inducir ES(AU)


The systemic sclerosis (SS) is a disease of unknown cause, that the fact that they fix the extra-cell womb characterizes itself for a production exaggerated of molecules. The decrease in the production of nitric oxide for the microvasculature's endothelial cells seems to play a central role in the pathogenesis of the disease. The results attained in 44 patients' study of series of cases of universe and inmunosupresor with cyclophosphamide according to therapeutic applied conduct shows of 31, with low incidence of the causes neoplastic in the death like secondary reactions and to treatment you went from motivation for the presentation of this work, that you reflected the possible relation between the systemic sclerosis and the neoplastic. It was concluded that the relation between auto-immunity and cancer can stem from an etiological common origin (genetic, hormonal, metabolic or environmental factors) or a mechanism of syndrome paraneoplastic. The disease is earthly of risk for neoplastic funny remark, the same way that the neoplastic can induce SS(AU)


Assuntos
Humanos , Escleroderma Sistêmico/complicações , Ciclofosfamida/efeitos adversos , Neoplasias/complicações , Autoimunidade
16.
Int J Pharm Pract ; 28(6): 660-662, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32476179

RESUMO

OBJECTIVES: To summarize the procedure for reporting adverse drug reactions (ADRs) in a Mexican hospital, with the purpose of promoting and facilitating the report of ADRs by the heath team. We outline the relevance of pharmacists in performing these activities in Mexican hospitals. METHODS: A pharmacovigilance study was carried out following the establishment of the Pharmacovigilance Unit of a Mexican hospital on January 2014 through March 2019. KEY FINDINGS: There is an undernotification rate of ADRs, since only 137 ADRs were notified in a five-year period, mostly by biopharmaceutical chemists holding bachelor's degrees that were acting as pharmacists. CONCLUSIONS: To improve the safety of medications, it is necessary to improve ADR notifications in Mexico's health system. One important step in this direction is to establish a Pharmacy degree with training for promoting and performing ADR notifications.


Assuntos
Sistemas de Notificação de Reações Adversas a Medicamentos/estatística & dados numéricos , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/epidemiologia , Farmacêuticos/organização & administração , Farmacovigilância , Hospitais , Humanos , México , Serviço de Farmácia Hospitalar/organização & administração , Papel Profissional
17.
Front Plant Sci ; 10: 1390, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31781137

RESUMO

Yellow rust (YR) or stripe rust, caused by Puccinia striformis f. sp tritici Eriks (Pst), is a major challenge to resistance breeding in wheat. A genome wide association study (GWAS) was performed using 22,415 single nucleotide polymorphism (SNP) markers and 591 haplotypes to identify genomic regions associated with resistance to YR in a subset panel of 419 pre-breeding lines (PBLs) developed at International Center for Maize and Wheat Improvement (CIMMYT). The 419 PBLs were derived from an initial set of 984 PBLs generated by a three-way crossing scheme (exotic/elite1//elite2) among 25 best elites and 244 exotics (synthetics, landraces) from CIMMYT's germplasm bank. For the study, 419 PBLs were characterized with 22,415 high-quality DArTseq-SNPs and phenotyped for severity of YR disease at five locations in Mexico. A population structure was evident in the panel with three distinct subpopulations, and a genome-wide linkage disequilibrium (LD) decay of 2.5 cM was obtained. Across all five locations, 14 SNPs and 7 haplotype blocks were significantly (P < 0.001) associated with the disease severity explaining 6.0 to 14.1% and 7.9 to 19.9% of variation, respectively. Based on average LD decay of 2.5 cM, identified 14 SNP-trait associations were delimited to seven quantitative trait loci in total. Seven SNPs were part of the two haplotype blocks on chromosome 2A identified in haplotypes-based GWAS. In silico analysis of the identified SNPs showed hits with interesting candidate genes, which are related to pathogenic process or known to regulate induction of genes related to pathogenesis such as those coding for glunolactone oxidase, quinate O-hydroxycinnamoyl transferase, or two-component histidine kinase. The two-component histidine kinase, for example, acts as a sensor in the perception of phytohormones ethylene and cytokinin. Ethylene plays a very important role in regulation of multiple metabolic processes of plants, including induction of defense mechanisms mediated by jasmonate. The SNPs linked to the promising genes identified in the study can be used for marker-assisted selection.

18.
Case Rep Neurol ; 11(1): 66-79, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31543788

RESUMO

INTRODUCTION: Opsoclonus-myoclonus syndrome (OMS) is an inflammatory neurological disorder, often requiring a prompt medical evaluation. Among the diverse etiologies associated with OMS are autoimmune, infectious, paraneoplastic, and systemic diseases, and drug intoxication. CLINICAL SUMMARY: The case of a 36-year-old female with a disabling holocranial headache, sudden loss of consciousness, aggressive behavior, vertigo, and a personal history of somatoform disorder and major depression is presented here. After hospital admission, the patient developed sudden stereotyped movements in all four extremities and oculogyric crises compatible with OMS. Cerebrospinal fluid analysis, viral and autoimmune assays, as well as blood, urine, and bronchial secretion cultures, drug metabolite urinalysis, and tumor markers were all negative. Furthermore, brain computed tomography (CT) and brain magnetic resonance imaging, along with thoraco-abdominopelvic CT and electroencephalography, were also all negative. The patient suffered type one respiratory insufficiency after 72 h of hospitalization, requiring an endotracheal tube. After 13 days the patient suffered cardiac arrest. Necropsy was performed reporting lymph nodes with a poorly differentiated malignant neoplastic lesion, HMB-45, melan-A, vimentin, and S-100 positive, compatible with melanoma metastasis from an occult primary cancer. DISCUSSION: While the incidence of melanoma of unknown primary is between 2.6 and 3.2%, with a median overall survival ranging between 24 and 127 months, when melanoma patients develop OMS their survival is markedly decreased. Although only 5 cases of paraneoplastic OMS secondary to melanoma have been reported in the literature, all had a poor prognosis, dying within 8 months of OMS onset.

19.
Int J Surg Case Rep ; 61: 147-152, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31362239

RESUMO

INTRODUCTION: Takayasu's arteritis (TA) is a rare disease that mainly affects large arteries. Approximately 20% of TA patients will require surgical intervention secondary to arterial complications such as intermittent claudication, persistent hypertension refractory to treatment, and heart failure. PRESENTATION OF CASE: The case of a 22-year-old female with TA of five years of evolution is presented. The patient deteriorated clinically after five years of corticosteroid and immunosuppressant management requiring surgical intervention with an axillobifemoral bypass for a total abdominal occlusion. Onset, pre-surgical and post-surgical Doppler ultrasonography as well as abdominal angiotomographies document and corroborate the patient's clinical and hemodynamic improvement. DISCUSSION: Very limited literature exists regarding surgical interventions for TA patients. While most reported cases present an endovascular surgical management. Open surgical procedures have lower rates of restenosis than endovascular management. Although endovascular management is less invasive than extra-anatomical axillobifemoral bypass, the patient was not a candidate for endovascular stent graft placement due to the increased risk for vascular injury and subsequent perforation. Approximately a fifth of TA patients are candidates for surgical intervention over time. CONCLUSION: Vascular surgery in TA cases becomes an option when the patient does not improve clinically after administration of medical treatment. Although endovascular management has fewer complications, the rate of restenosis is higher. Patients at risk of restenosis and who have increased perioperative vascular risk can benefit from open surgical procedures. Surgical management should be tailored to the patient's needs.

20.
Case Rep Neurol ; 11(3): 330-343, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31911778

RESUMO

Encephalitis is a heterogeneous syndrome that is diagnosed through clinical assessment and the assistance of laboratory, neuroimaging and electroencephalographic workup. Over the past 10 years, autoimmune encephalitis has been more frequently recognized; however, most reports come from highly specialized hospital settings. Anti-N-methyl-D-aspartate receptor (NDMAR) encephalitis has been associated with paraneoplastic encephalitis syndromes and was first recognized in 2005. We present the case of a 34-year-old male patient who debuted clinically with a headache associated with neuropsychiatric symptoms (i.e., visual and auditory hallucinations, anxiety, aggressiveness) and memory deficits, progressing to autonomic dysfunction (i.e., tachycardia and hypertension), seizures, and stupor with catatonic features. Initially, infectious, metabolic, and toxicological etiologies were excluded; followed by the assessment of immunological and paraneoplastic etiologies, yielding positive IgG levels for anti-NMDAR antibodies. The patient was treated successfully with systemic steroid therapy and therapeutic plasmapheresis, while mutism was the only sequela. Although large case series reporting on paraneoplastic and autoimmune anti-NMDAR encephalitis have been reported in the literature in recent years, this case is of particular importance due to the stepwise differential diagnosis and treatment management procedure that was used in a regional but not highly specialized hospital setting.

SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA