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1.
Cureus ; 16(1): e52778, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38389637

RESUMO

Introduction Guillain-Barré syndrome (GBS) is an autoimmune disease affecting radicles and peripheral nerves resulting in acute flaccid paralysis. Respiratory failure, autonomic dysfunction, and secondary complications such as pneumonia, and venous thromboembolism are the major causes of death and disability in GBS. Cardiovascular complications play a major role in the prognosis of GBS patients. The aim is to determine the incidence of cardiovascular instability in GBS patients and to see if there are any specific risk groups associated with the development of cardiovascular instability. Methodology This is a retrospective descriptive study conducted in a tertiary care center in South India. Data on 50 consecutive GBS patients were collected from hospital records including case sheets, death summaries, and discharge summaries. Patients with evidence of sepsis, blood loss, heavy alcohol consumption, and chronic liver disease were excluded from the study. Baseline demographic data, symptom onset to admission time, baseline Erasmus Guillain-Barré Syndrome Respiratory Insufficiency Score (EGRIS), and baseline liver function tests were documented. The presence of heart rate and blood pressure fluctuations was noted from the records. Frequency data were calculated from the categorical variables. Analysis of non-parametric variables by chi-square test was done using IBM SPSS Statistics for Windows, Version 25.0 (Released 2017; IBM Corp., Armonk, New York, United States). Results Cardiovascular instability was present in 15 (30%) patients in the study population. It was present in all patients (100%) who require mechanical ventilation. The incidence of cardiovascular instability was higher in patients who had lesser onset to admission times (41.9% vs 10.5%; p=0.019), EGRIS≥4 (40.6% vs 11.1%; p=0.029), and lower cranial nerve involvement (40% vs 6.7%; p=0.018). Conclusion Of patients with GBS, 30% developed cardiovascular instability during their disease course. Patients with lesser onset to admission times, EGRIS ≥4, and those with lower cranial nerve involvement had a greater incidence of cardiovascular instability.

2.
Sleep Med ; 114: 279-289, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38245928

RESUMO

RATIONALE: The association of obstructive sleep apnea (OSA) with idiopathic intracranial hypertension (IIH) remains unclear, and few studies have used objective in-laboratory polysomnography (PSG) data. Thus, we used PSG data to examine the: 1) association between OSA, and its severity, with IIH and 2) sex differences in OSA severity in those with and without IIH. METHODS: We retrospectively analyzed diagnostic PSG data from January 2015 to August 2023 for patients who were diagnosed with IIH by a neuro-ophthalmologist using the modified Dandy criteria. We selected three age, sex, and body mass index (BMI) matched controls for each IIH patient. We examined potential associations of IIH with OSA using regression. Sex differences were analyzed using ANOVA. RESULTS: Of 3482 patients who underwent PSG, we analyzed 78 IIH patients (16 males) and 234 matched controls (48 males). Five (6.4 %) IIH and 39 (16.7 %) control patients had OSA, defined as AHI≥15. After adjusting for age, sex, BMI, and comorbidities, IIH was negatively associated with the presence of OSA (OR 0.29, 95%CI 0.10-0.87, p = 0.03). However, models that adjusted for acetazolamide use, with or without comorbidities, showed no significant relationship with OSA (OR 0.31, p = 0.20). Males with IIH had a significantly higher age (p = 0.020), OSA severity (p = 0.032), and arousal index (p = 0.046) compared to females with IIH. CONCLUSIONS: IIH treated with acetazolamide was not an independent risk factor for OSA presence or severity. The presence of IIH treated with acetazolamide likely does not warrant routine screening for OSA, but related risk factors may identify appropriate patients.


Assuntos
Pseudotumor Cerebral , Apneia Obstrutiva do Sono , Humanos , Masculino , Feminino , Estudos Retrospectivos , Polissonografia , Pseudotumor Cerebral/complicações , Pseudotumor Cerebral/diagnóstico , Acetazolamida/uso terapêutico , Apneia Obstrutiva do Sono/complicações , Apneia Obstrutiva do Sono/diagnóstico
3.
Int Immunopharmacol ; 122: 110585, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37421777

RESUMO

Ulcerative colitis (UC) is an idiopathic, chronic disorder of the intestines characterized by excessive inflammation and oxidative stress. Loganic acid (LA) is an iridoid glycoside reported to have antioxidant and anti-inflammatory properties. However, the beneficial effects of LA on UC are unexplored yet. Thus, this study aims to explore the potential protective effects of LA and its possible mechanisms. In-vitro models were employed using LPS-stimulated RAW 264.7 macrophage cells, and Caco-2 cells, whereas an in-vivo model of ulcerative colitis was employed using 2.5% DSS in BALB/c mice. Results indicated that LA significantly suppressed the intracellular ROS levels and inhibited the phosphorylation of NF-κB in both RAW 264.7 and Caco-2 cells, contrarily LA activated the Nrf2 pathway in RAW 264.7 cells. In DSS-induced colitis mice, LA significantly alleviated the inflammation and colonic damage by decreasing the pro-inflammatory cytokines (IL-1ß, IL-6, TNF-α, and IFN-γ), oxidative stress markers (MDA, and NO), and also expression levels of various inflammatory proteins (TLR4 and NF-кB) which was evidenced by immunoblotting. On the contrary, the release of GSH, SOD, HO-1, and Nrf2 were profoundly increased upon LA treatment.Subsequently, molecular docking studies showed that LA interacts with active site regions of target proteins (TLR4, NF-κB, SIRT1, and Nrf2) through hydrogen bonding and salt bridge interaction. The current findings demonstrated that LA could exhibit a protective effect in DSS-induced ulcerative colitis through its anti-inflammatory and anti-oxidant effects via inactivating the TLR4/NF-κB signaling pathway and activating the SIRT1/Nrf2 pathways.


Assuntos
Colite Ulcerativa , Humanos , Camundongos , Animais , Colite Ulcerativa/induzido quimicamente , Colite Ulcerativa/tratamento farmacológico , NF-kappa B/metabolismo , Antioxidantes/farmacologia , Antioxidantes/uso terapêutico , Fator 2 Relacionado a NF-E2/metabolismo , Receptor 4 Toll-Like/metabolismo , Sirtuína 1 , Simulação de Acoplamento Molecular , Células CACO-2 , Inflamação/tratamento farmacológico , Anti-Inflamatórios/efeitos adversos , Sulfato de Dextrana
4.
Langenbecks Arch Surg ; 408(1): 130, 2023 Mar 29.
Artigo em Inglês | MEDLINE | ID: mdl-36991246

RESUMO

PURPOSE: High preoperative bilirubin levels and cholangitis are associated with poor peri-operative outcomes following pancreaticoduodenectomy (PD). However, the impact of deranged preoperative aspartate aminotransferase (AST) and alanine aminotransferase (ALT) levels on immediate postoperative outcomes is relatively unexplored. We hypothesized that deranged AST and ALT lead to worse postoperative outcomes after PD. The aim of this study was to assess the factors contributing to postoperative mortality (POM) following PD, and to study the impact of deranged aminotransferases. METHODS: This is a retrospective analysis of 562 patients. Risk factors for POM were computed using a multivariate logistic regression model. RESULTS: The rate of POM was 3.9%. On univariate analysis, the American Society of Anaesthesiologists grades, diabetes mellitus, cardiac comorbidity, preoperative biliary stenting, elevated serum bilirubin, AST, elevated serum creatinine, clinically relevant pancreatic fistula (CRPF), and grade B+C post-pancreatectomy hemorrhage (PPH) were associated with 30-day mortality. On multivariate analysis, preoperative elevated AST was independently predictive of 30-day POM (OR = 6.141, 95%CI 2.060-18.305, p = 0.001). Other factors independently predictive of POM were elevated serum creatinine, preoperative biliary stenting, CRPF and grade B and C PPH. The ratio of AST/ALT > 0.89 was associated with 8 times increased odds of POM. CONCLUSION: Elevated preoperative AST emerged as a predictor of 30-day POM after PD, with an 8-times increased odds of death with an AST/ALT ratio > 0.89.


Assuntos
Hepatopatias , Pancreaticoduodenectomia , Humanos , Pancreaticoduodenectomia/efeitos adversos , Pancreatectomia , Estudos Retrospectivos , Aspartato Aminotransferases , Creatinina , Hepatopatias/etiologia , Bilirrubina , Alanina Transaminase
5.
Can J Neurol Sci ; 50(3): 440-445, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-35621137

RESUMO

A retrospective review of 29 patients with neurovascular compression syndrome (NVCS) involving the anterior visual pathway was conducted. Various patterns of NVCS and visual defects were identified, most commonly involving the optic nerve and internal carotid artery. Most patients were stable, except one with progressive visual field defects. Although mostly asymptomatic, NVCS can rarely cause compressive optic neuropathy. NVCS should be kept in the differential diagnosis of normal tension glaucoma, especially with progressive visual loss despite treatment. Patients with progressive visual loss may require decompression surgery. Non-contrast computed tomography scan may miss NVCS, and magnetic resonance imaging is diagnostic.


Assuntos
Doenças do Nervo Óptico , Vias Visuais , Humanos , Doenças do Nervo Óptico/etiologia , Doenças do Nervo Óptico/complicações , Transtornos da Visão/diagnóstico por imagem , Transtornos da Visão/etiologia , Nervo Óptico , Estudos Retrospectivos , Imageamento por Ressonância Magnética
7.
Comput Intell Neurosci ; 2022: 9005278, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35479597

RESUMO

As a result of technology improvements, various features have been collected for heart disease diagnosis. Large data sets have several drawbacks, including limited storage capacity and long access and processing times. For medical therapy, early diagnosis of heart problems is crucial. Disease of heart is a devastating human disease that is quickly increasing in developed and also developing countries, resulting in death. In this type of disease, the heart normally fails to provide enough blood to different body parts in order to allow them to perform their regular functions. Early, as well as, proper diagnosis of this condition is very critical for averting further damage and also to save patients' lives. In this work, machine learning (ML) is utilized to find out whether a person has cardiac disease or not. Both the types of ensemble classifiers, namely, homogeneous as well as heterogeneous classifiers (formed by combining two separate classifiers), have been implemented in this work. The data mining preprocessing using Synthetic Minority Oversampling Technique (SMOTE) has been employed to cope with the imbalance problem of the class as well as noise. The proposed work has two steps. SMOTE is used in the initial phase to reduce the impact of data imbalance and the second phase is classifying data using Naive Bayes (NB), decision tree (DT) algorithms, and their ensembles. The experimental results demonstrate that the AdaBoost-Random Forest classifier provides 95.47% accuracy in the early detection of heart disease.


Assuntos
Algoritmos , Cardiopatias , Teorema de Bayes , Diagnóstico Precoce , Cardiopatias/diagnóstico , Humanos , Projetos de Pesquisa
9.
Langenbecks Arch Surg ; 406(4): 1093-1101, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33774746

RESUMO

INTRODUCTION: With the proven benefits of enhanced recovery protocols (ERP) after pancreatoduodenectomy (PD), their implementation has become a well-accepted clinical practice across the major pancreatic surgery centres of the world. The impact of age on the execution of ERP has remained an area of ambiguity. The aim of this study was to assess the impact of age on the feasibility of various postoperative elements of ERP after PD. METHODS: A retrospective study was conducted which included 548 patients undergoing PD, managed using ERP, from March 2013 to September 2020. Patients were divided into two groups: < 70 years and ≥ 70 years. Compliance to recovery parameters and postoperative outcomes, including, the incidence of major complications, length of stay (LOS), mortality rates and re-admissions, were compared between the two groups. The impact of age, as a continuous variable, was also studied on the feasibility of each postoperative element. RESULTS: One-fifth (113/548) of the cohort comprised of patients aged 70 years and above. The 'elderly' patients had a significantly higher prevalence of diabetes, hypertension, and cardiac disease. They were also more likely to get admitted to the intensive care unit for postoperative monitoring (p < 0.001). The median LOS was 8.0 days in the young and 9.0 days in the elderly (p = 0.253). Rate of major complications (age < 70, n = 37 (8.5%) vs age ≥ 70, n = 7 (6.2%), p = 0.421) and 30-day mortality (age < 70, n = 15 (3.4%) vs age ≥ 70, n = 7 (6.2%), p = 0.185) was not statistically different between the two groups. Compliance of various postoperative elements was similar between the two groups. When studied as a continuous variable, age did not seem to be associated with higher non-compliance of any of the postoperative recovery elements. CONCLUSION: Age is not a barrier in the safe implementation of postoperative element of ERPs after PD. Enhanced recovery protocols do not need to be modified for the aged.


Assuntos
Laparoscopia , Pancreaticoduodenectomia , Idoso , Humanos , Tempo de Internação , Pancreaticoduodenectomia/efeitos adversos , Complicações Pós-Operatórias/epidemiologia , Estudos Retrospectivos
11.
JPGN Rep ; 2(4): e134, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37206460

RESUMO

This observational study describes the procedure technique, safety outcomes, and patient responses to celiac plexus blockade (CPB) in children with severe neurodisability with refractory feed intolerance, feed induced pain or feed induced dystonia (FID). Method: A review of the pathophysiological response to feeding in children with significant neurodisability and the effect on the neuroenteric system. A 2-stage CT-guided temporary celiac plexus blockade followed by neurolysis technique is described. We compile a case series of 5 patients with life limiting conditions and significant disability undergoing CPB in a single tertiary pediatric hospital. Results: A total of 10 separate procedures in 5 children were completed. A positive outcome was observed in 3 out of 4 cases of pediatric FID. Two of the three patients on parenteral nutrition had improved feed tolerance postprocedure. All children tolerated the procedure well, no postprocedure complications were documented. Conclusions: In selected cases, children with life-threatening feed induced dystonia or effective intestinal failure can be safely treated with celiac plexus blockade when other therapies have failed.

12.
Plants (Basel) ; 9(11)2020 Oct 24.
Artigo em Inglês | MEDLINE | ID: mdl-33114293

RESUMO

Eriocaulaceae (Poales) differ from potentially related Xyridaceae in pattern of floral organ arrangement relative to subtending bract (with median sepal adaxial). Some Eriocaulaceae possess reduced and non-trimerous perianth, but developmental data are insufficient. We conducted a SEM investigation of flower development in three species of Eriocaulon to understand whether organ number and arrangement are stable in E. redactum, a species with a highly reduced calyx and reportedly missing corolla. Early flower development is similar in all three species. Male and female flowers are indistinguishable at early stages. Despite earlier reports, both floral types uniformly possess three congenitally united sepals and three petals in E. redactum. Petals and inner stamens develop from common primordia. We assume that scanning electron microscopy should be used in taxonomic accounts of Eriocaulon to assess organ number and arrangement. Two types of corolla reduction are found in Eriocaulaceae: suppression and complete loss of petals. Common petal-stamen primordia in Eriocaulon do not co-occur with delayed receptacle expansion as in other monocots but are associated with retarded petal growth. The 'reverse' flower orientation of Eriocaulon is probably due to strictly transversal lateral sepals. Gynoecium development indicates similarities of Eriocaulaceae with restiids and graminids rather than with Xyridaceae.

13.
Front Neurol ; 11: 256, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32351443

RESUMO

Approximately 20% of patients with Neurofibromatosis type 1 (NF1) develop optic pathway gliomas (OPGs). Not all OPGs in NF1 necessarily become vision compromising and predicting which patients might develop visual decline is difficult at present time. Optical coherence tomography (OCT) has emerged as a useful tool able to directly assess the morphology and thickness of individual retinal layers. The ganglion cell layer (GCL) is composed of the retinal ganglion cells which receive information from photoreceptors via interneurons, while the retinal nerve fiber layer (RNFL) contains the retinal ganglion cell unmyelinated axons that merge to form the optic nerve. Lesions of the anterior visual pathway result in retrograde axonal degeneration from ganglion cell death and ultimately manifest as thinning of the RNFL and/or GCL. In this report we highlight a case of a 38 year-old woman with an NF1 associated left chiasmal and optic tract glioma who had normal visual fields and visual acuity. However, using OCT we demonstrate a homonymous pattern of GCL atrophy that corresponds with her left optic tract glioma. Given this homonymous pattern of atrophy in the GCL and the left optic tract lesion, one would expect a right homonymous hemianopia. To our knowledge this is the first reported case of a homonymous pattern of GCL-IPL atrophy in an adult with an NF1 related OPG involving the optic chiasm and optic tract, but without objective visual field or acuity deficits. This case is important because, mechanistically, it suggests that a necessary threshold of GCL atrophy may be needed before visual concerns can be detected and, secondly, it invites future studies to evaluate whether OCT may serve as a potential screening tool for those with NF1 related OPGs.

15.
Mol Biol Evol ; 37(8): 2228-2240, 2020 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-32191325

RESUMO

Convergent evolution is pervasive in nature, but it is poorly understood how various constraints and natural selection limit the diversity of evolvable phenotypes. Here, we analyze the transcriptome across fruiting body development to understand the independent evolution of complex multicellularity in the two largest clades of fungi-the Agarico- and Pezizomycotina. Despite >650 My of divergence between these clades, we find that very similar sets of genes have convergently been co-opted for complex multicellularity, followed by expansions of their gene families by duplications. Over 82% of shared multicellularity-related gene families were expanding in both clades, indicating a high prevalence of convergence also at the gene family level. This convergence is coupled with a rich inferred repertoire of multicellularity-related genes in the most recent common ancestor of the Agarico- and Pezizomycotina, consistent with the hypothesis that the coding capacity of ancestral fungal genomes might have promoted the repeated evolution of complex multicellularity. We interpret this repertoire as an indication of evolutionary predisposition of fungal ancestors for evolving complex multicellular fruiting bodies. Our work suggests that evolutionary convergence may happen not only when organisms are closely related or are under similar selection pressures, but also when ancestral genomic repertoires render certain evolutionary trajectories more likely than others, even across large phylogenetic distances.


Assuntos
Ascomicetos/genética , Basidiomycota/genética , Evolução Biológica , Carpóforos/genética , Regulação da Expressão Gênica no Desenvolvimento , Família Multigênica
16.
Indian J Tuberc ; 67(1): 105-111, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32192603

RESUMO

BACKGROUND: The Revised National Tuberculosis Control Program (RNTCP) envisages shifting from thrice-weekly to a daily anti-tuberculosis treatment (ATT) regimen. The potential merits and demerits of both regimens continue to be debated. METHODS: This retrospective study compared treatment outcomes in 191 HIV-negative, newly diagnosed, sputum-positive adults with pulmonary tuberculosis from Vellore district of Tamil Nadu who were treated at a private medical college during 2009 to 2012 with intermittent Directly Observed Treatment Short Course (intermittent DOTS cohort, n=132) or who opted for daily Self-Administered Treatment (daily SAT cohort, n=59). Treatment outcomes obtained from medical records were supplemented by interviews with consenting, traceable patients. RESULTS: The rates for the RNTCP-recommended sputum smear examinations were suboptimal (42% for daily SAT and 72% for intermittent DOTS). However, treatment success with daily SAT and intermittent DOTS (76.2% vs. 70.4%); default (11.9% vs. 18.2%); death (6.8% vs. 5.3%); treatment failure (5.1% vs. 4.6%); and relapse (0% vs. 1.5%) did not significantly differ. CONCLUSIONS: While evaluable treatment outcomes were not significantly different with daily SAT and intermittent DOTS, rates for timely smear examinations and for treatment success were lower, and for default higher, in both cohorts than comparable RNTCP data from Vellore district. Further strengthening of RNTCP facilities within private medical colleges and regular, real-time audits of performance and outcomes are needed if daily ATT regimen under the RNTCP is to succeed.


Assuntos
Antituberculosos/administração & dosagem , Terapia Diretamente Observada , Esquema de Medicação , Autoadministração , Tuberculose Pulmonar/tratamento farmacológico , Adolescente , Adulto , Feminino , Humanos , Índia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Escarro/microbiologia , Resultado do Tratamento , Tuberculose Pulmonar/diagnóstico , Adulto Jovem
17.
J Family Med Prim Care ; 9(12): 5982-5987, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33681030

RESUMO

BACKGROUND: Kerala state has highest proportion of older adults in India. There is paucity of information on burden of malnutrition (under-nutrition) among them in the state. This study aimed to measure prevalence and associated factors of malnutrition among older adults in a rural community of Kerala. METHODS: A community based cross-sectional study was conducted in 2018, among randomly selected 245 older persons (age ≥ 60 years) across rural area of Nemom block panchayath in Thiruvananthapuram district of Kerala. Nutritional status was determined by Mini Nutritional Assessment tool. Other components of the interviewer-administered questionnaire were Barthel Index, Geriatric Depression Scale-15, socio-demography, morbidity and substance abuse details. Chi Square test and binary logistic regression were done appropriately. RESULTS: Prevalence of malnutrition was 14.3% (95% CI - 9.9% to 18.7%) and 44.1% (95% CI - 37.9% to 50.3%) were at risk of malnutrition. Older-old (70-79 years), oldest-old (≥80 years), unmarried or widowed, those with chewing and swallowing difficulties, those who screened positive for depression and those who had higher grade of dependency in any activities of daily living were more likely to be malnourished (p < 0.05). Older-old age (aOR - 3.358), depression (aOR - 4.859) and higher grade of dependency in activities of daily living (aOR - 2.940) were the attributes independently associated with malnutrition after adjusting for other factors. CONCLUSIONS: The older persons in the rural area of Kerala had high burden of malnutrition. Older-old, dependent and depressed individuals are more likely to be affected.

18.
Syst Biol ; 69(1): 17-37, 2020 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-31062852

RESUMO

Resolving deep divergences in the tree of life is challenging even for analyses of genome-scale phylogenetic data sets. Relationships between Basidiomycota subphyla, the rusts and allies (Pucciniomycotina), smuts and allies (Ustilaginomycotina), and mushroom-forming fungi and allies (Agaricomycotina) were found particularly recalcitrant both to traditional multigene and genome-scale phylogenetics. Here, we address basal Basidiomycota relationships using concatenated and gene tree-based analyses of various phylogenomic data sets to examine the contribution of several potential sources of bias. We evaluate the contribution of biological causes (hard polytomy, incomplete lineage sorting) versus unmodeled evolutionary processes and factors that exacerbate their effects (e.g., fast-evolving sites and long-branch taxa) to inferences of basal Basidiomycota relationships. Bayesian Markov Chain Monte Carlo and likelihood mapping analyses reject the hard polytomy with confidence. In concatenated analyses, fast-evolving sites and oversimplified models of amino acid substitution favored the grouping of smuts with mushroom-forming fungi, often leading to maximal bootstrap support in both concatenation and coalescent analyses. On the contrary, the most conserved data subsets grouped rusts and allies with mushroom-forming fungi, although this relationship proved labile, sensitive to model choice, to different data subsets and to missing data. Excluding putative long-branch taxa, genes with high proportions of missing data and/or with strong signal failed to reveal a consistent trend toward one or the other topology, suggesting that additional sources of conflict are at play. While concatenated analyses yielded strong but conflicting support, individual gene trees mostly provided poor support for any resolution of rusts, smuts, and mushroom-forming fungi, suggesting that the true Basidiomycota tree might be in a part of tree space that is difficult to access using both concatenation and gene tree-based approaches. Inference-based assessments of absolute model fit strongly reject best-fit models for the vast majority of genes, indicating a poor fit of even the most commonly used models. While this is consistent with previous assessments of site-homogenous models of amino acid evolution, this does not appear to be the sole source of confounding signal. Our analyses suggest that topologies uniting smuts with mushroom-forming fungi can arise as a result of inappropriate modeling of amino acid sites that might be prone to systematic bias. We speculate that improved models of sequence evolution could shed more light on basal splits in the Basidiomycota, which, for now, remain unresolved despite the use of whole genome data.


Assuntos
Basidiomycota/classificação , Classificação/métodos , Modelos Genéticos , Filogenia , Basidiomycota/genética , Genes Fúngicos/genética
19.
PLoS One ; 14(11): e0225656, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31765440

RESUMO

PURPOSE: To assess the clinical utility of next-generation sequencing (NGS) for the diagnosis of patients with optic atrophy (OA). DESIGN: Retrospective cohort study. METHODS: 97 patients were referred to the McMaster University Medical Center (Hamilton, Ontario) for evaluation of bilateral OA. All patients were sent for NGS including a 22 nuclear gene panel and/or complete mitochondrial DNA (mtDNA) sequencing. Positive genetic test results and abnormal vibration sensation were compared in patients +/- environmental exposures or a family history. RESULTS: 19/94 (20.2%) had a positive nuclear variant, of which 15/19 (78.9%) were in the OPA1 gene. No positive mtDNA variants were identified. The detection of a positive genetic variant was significantly different in patients who reported excessive ethanol use, but not in patients who smoke (0/19 (0%) vs. 19/78 (24.4%), P = 0.0164 and 4/22 (18.2%) vs. 15/74 (20.3%), P = 0.829, respectively). Patients with a positive family history were more likely to have a positive genetic variant compared to patients with a negative family history (P = 0.0112). There were significantly more excessive drinkers with an abnormal vibration sensation (P = 0.026), and with a similar trend in smokers (P = 0.074). CONCLUSIONS: All positive genetic variants were identified in nuclear genes. We identified a potential independent pathophysiological link between a history of excessive ethanol consumption and bilateral OA. Further investigations should evaluate and identify potential environmental risk factors for OA.


Assuntos
Variação Genética , Atrofia Óptica/patologia , Aconitato Hidratase/genética , Consumo de Bebidas Alcoólicas , DNA Mitocondrial/química , DNA Mitocondrial/genética , DNA Mitocondrial/metabolismo , Exposição Ambiental , GTP Fosfo-Hidrolases/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Proteínas de Membrana/genética , Atrofia Óptica/genética , Estudos Retrospectivos , Fatores de Risco , Análise de Sequência de DNA , Fumar
20.
J Family Community Med ; 26(3): 187-192, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31572049

RESUMO

BACKGROUND: Potentially inappropriate medications (PIMs) are a major concern in geriatric care. The primary objective of our study was to assess the prevalence of PIMs prescribed for older persons attending outpatient setting of two teaching hospitals in Kerala state in South India, where the population is aging. MATERIALS AND METHODS: A cross-sectional study was carried out in two teaching hospitals in Kerala. Four hundred consecutive outpatient medical records of patients aged 65 years and above were selected. The current medications of the patients were analyzed to identify PIMs by the Beers criteria 2015. Polypharmacy and hyperpolypharmacy were defined as 5-9 medications and ≥10 medications, respectively. Chi-square test was done to identify demographic variables and the pattern of health-care facility use associated with PIM prescription. Binary logistic regression was performed to adjust for confounding associations. RESULTS: The prevalence of PIMs prescription was 34.0% (95% confidence interval: 29.4%-38.6%) and that of polypharmacy and hyperpolypharmacy was 45.8% and 13.5%, respectively. The common PIMs were proton-pump inhibitors, benzodiazepines, peripheral α-1 blockers, and first-generation antihistamines. Inpatient admission, visits to the emergency department, multiple diagnoses, polypharmacy, and hyperpolypharmacy were associated with PIM prescription (P < 0.05). Age, gender, number of outpatient visits, and specialist consultation were not associated with PIM prescription. Polypharmacy (adjusted odds ratio [aOR] =2.11) and hyperpolypharmacy (aOR = 5.55) had independent association with PIM prescription (P < 0.05). CONCLUSION: PIM prescription appears to be common in teaching hospitals in Kerala. Polypharmacy and hyperpolypharmacy in older people should trigger a review of medication to reduce the use of PIM.

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