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1.
Clin Genet ; 103(1): 16-34, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-36089522

RESUMO

Hearing impairment is one of the most widespread inheritable sensory disorder affecting at least 1 in every 1000 born. About two-third of hereditary hearing loss (HHL) disorders are non-syndromic. To provide comprehensive update of monogenic causes of non-syndromic hearing loss (NSHL), literature search has been carried out with appropriate keywords in the following databases-PubMed, Google Scholar, Cochrane library, and Science Direct. Out of 2214 papers, 271 papers were shortlisted after applying inclusion and exclusion criterion. Data extracted from selected papers include information about gene name, identified pathogenic variants, ethnicity of the patient, age of onset, gender, title, authors' name, and year of publication. Overall, pathogenic variants in 98 different genes have been associated with NSHL. These genes have important role to play during early embryonic development in ear structure formation and hearing development. Here, we also review briefly the recent information about diagnosis and treatment approaches. Understanding pathogenic genetic variants are helpful in the management of affected and may offer targeted therapies in future.


Assuntos
Perda Auditiva , Humanos , Perda Auditiva/diagnóstico , Perda Auditiva/genética , Perda Auditiva/terapia
2.
Int Immunol ; 33(5): 281-298, 2021 04 22.
Artigo em Inglês | MEDLINE | ID: mdl-33406267

RESUMO

Several facets of the host immune response to Salmonella infection have been studied independently at great depths to understand the progress and pathogenesis of Salmonella infection. The circumstances under which a Salmonella-infected individual succumbs to an active disease, evolves as a persister or clears the infection are not understood in detail. We have adopted a system-level approach to develop a continuous-time mechanistic model. We considered key interactions of the immune system state variables with Salmonella in the mesenteric lymph node to determine the final disease outcome deterministically and exclusively temporally. The model accurately predicts the disease outcomes and immune response trajectories operational during typhoid. The results of the simulation confirm the role of anti-inflammatory (M2) macrophages as a site for persistence and relapsing infection. Global sensitivity analysis highlights the importance of both bacterial and host attributes in influencing the disease outcome. It also illustrates the importance of robust phagocytic and anti-microbial potential of M1 macrophages and dendritic cells (DCs) in controlling the disease. Finally, we propose therapeutic strategies for both antibiotic-sensitive and antibiotic-resistant strains (such as IFN-γ therapy, DC transfer and phagocytic potential stimulation). We also suggest prevention strategies such as improving the humoral response and macrophage carrying capacity, which could complement current vaccination schemes for enhanced efficiency.


Assuntos
Imunidade Humoral/imunologia , Infecções por Salmonella/imunologia , Salmonella/imunologia , Febre Tifoide/imunologia , Animais , Humanos , Linfonodos/imunologia , Linfonodos/microbiologia , Macrófagos/imunologia , Macrófagos/microbiologia , Camundongos , Camundongos Knockout , Infecções por Salmonella/microbiologia , Febre Tifoide/microbiologia
3.
Anaerobe ; 69: 102343, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33582302

RESUMO

The present study aimed to determine the utility of detection of co-infection of Gardnerella vaginalis and Atopobium vaginae using qualitative PCR for diagnosing bacterial vaginosis (BV). Vaginal samples (n = 385) categorized as positive (n = 108) or negative (n = 208) for bacterial vaginosis based on the Nugent scoring system, were analyzed for the presence of G. vaginalis and A. vaginae by conventional PCR. We compared the sensitivity, specificity, positive predictive value, negative predictive value and odds ratio for the detection of each bacterium alone with the combination of the two bacteria for diagnosing BV. The detection of co-infection of the two bacteria demonstrated a sensitivity of 96%, a specificity of 82.9%, a positive predictive value of 68.5%, a negative predictive value of 98.2% with an odds ratio of 116 (CI -32 - 409). In our study, we found a high sensitivity, specificity, negative predictive value and odds ratio for the detection of co-infection of A. vaginae and G. vaginalis for the diagnosis of BV.


Assuntos
Actinobacteria/isolamento & purificação , Actinobacteria/patogenicidade , Coinfecção/diagnóstico , Gardnerella vaginalis/isolamento & purificação , Infecções por Bactérias Gram-Positivas/diagnóstico , Reação em Cadeia da Polimerase/métodos , Vaginose Bacteriana/diagnóstico , Adolescente , Adulto , Técnicas Bacteriológicas , Feminino , Infecções por Bactérias Gram-Positivas/fisiopatologia , Humanos , Sensibilidade e Especificidade , Vaginose Bacteriana/fisiopatologia , Adulto Jovem
4.
Pediatr Cardiol ; 41(7): 1425-1431, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32567011

RESUMO

Long-term right ventricular pacing is associated with left ventricular dysfunction and cardiomyopathy, particularly in pediatric patients and those with congenital heart disease (CHD). Research has shown that pacing-induced cardiomyopathy can be reversed with nonselective or selective His bundle pacing in adults, however, the information available about the use of this type of therapy in pediatrics and CHD is scarce. We performed a retrospective chart review of all the cases of His or left bundle pacing at the University of Minnesota, division of Pediatric Cardiology from January of 2019 to April of 2020. Parametric data are presented as mean ± standard deviation. Non-parametric data are presented as median value with interquartile ranges. Eight patients, ages 8 to 18 years (median of 11.5) and weight from 21.5 to 81.6 kg (median of 40 kg) underwent this procedure successfully. The most common structural heart disease was a repaired peri-membranous ventricular septal defect. Three patients (37.5%) had selective and three (37.5%) had nonselective His bundle pacing, and two patients (25%) had left bundle pacing. There were two cases of pacing-induced cardiomyopathy and each had a 14% and 16% improvement of the ejection fraction after nonselective His bundle pacing. There were no procedural complications. Selective and nonselective His bundle, as well as left bundle pacing may be a feasible procedure in pediatric patients with and without CHD. This procedure may improve pacing-induced cardiomyopathy in this population.


Assuntos
Fascículo Atrioventricular/cirurgia , Estimulação Cardíaca Artificial/métodos , Adolescente , Fascículo Atrioventricular/fisiopatologia , Cardiomiopatias/fisiopatologia , Criança , Eletrocardiografia , Feminino , Ventrículos do Coração/fisiopatologia , Humanos , Masculino , Pediatria , Estudos Retrospectivos
5.
Ann Noninvasive Electrocardiol ; 24(1): e12588, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30152133

RESUMO

INTRODUCTION: Noncompaction cardiomyopathy (NCCM) patients may develop sustained ventricular arrhythmias (VA). Currently no known electrocardiogram (ECG) parameter has demonstrated predictive value for VA development. The spatial QRS-T angle has demonstrated ability to identify VA in other cardiomyopathy populations. METHODS: A total of 39 patients with NCCM, defined by compact to non-compact ratio of >2.3 by magnetic resonance imaging, were assessed. The first ECG taken at time of MRI was assessed utilizing the heart rate, the QRS duration (QRSd), the corrected QT interval (QTc), and the spatial QRS-T angle (SPQRS-T angle, three-dimensional angle between the QRS and T-wave vectors) were assessed. RESULTS: Eight patients developed VA (20.5%). Median time to event was 3 months (95% CI 1.0 to 24.0 months). There were no significant differences between baseline ejection fraction or fractional shortening. Baseline median heart rate, spatial QRS-T angles, and indexed left ventricular end-diastolic volumes were all significantly higher in patients with VA development (p-value <0.05). Only heart rate and the SPQRS-T angle had significant univariate hazard ratios (HR) for VA at 1.031/beat per minute (1.001-1.071) and at a cut-off of 147 degrees the SPQRS-T angle gave a hazard ratio of HR of 5.773 (95% CI 1.161 to 28.702). The multivariate hazard ratio was only significant for the SPQRS-T angle, 1.031/degree (1.001-1.066). Survival analysis by Kaplan-Meier yielded a significant difference at a cutoff of 147 degrees. CONCLUSION: The SPQRS-T angle identified those at risk for VA development. Future studies are warranted with larger populations of noncompaction patients.


Assuntos
Cardiomiopatias/diagnóstico por imagem , Eletrocardiografia/métodos , Imagem Cinética por Ressonância Magnética/métodos , Taquicardia Ventricular/epidemiologia , Análise de Variância , Cardiomiopatias/complicações , Cardiomiopatias/mortalidade , Cardiomiopatias/patologia , Pré-Escolar , Estudos de Coortes , Feminino , Cardiopatias Congênitas , Hospitais Universitários , Humanos , Incidência , Lactente , Recém-Nascido , Estimativa de Kaplan-Meier , Masculino , Análise Multivariada , Prognóstico , Modelos de Riscos Proporcionais , Estudos Retrospectivos , Medição de Risco , Índice de Gravidade de Doença , Análise de Sobrevida , Taquicardia Ventricular/diagnóstico por imagem , Taquicardia Ventricular/etiologia
6.
Ann Noninvasive Electrocardiol ; 24(6): e12663, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31199031

RESUMO

BACKGROUND: There is paucity of data regarding the significance of high percentage of premature ventricular contractions (PVCs) in healthy children and their impact on left ventricular (LV) function and the risk of ventricular arrhythmias. The purpose of this study was to assess the prevalence of LV systolic dysfunction in children with frequent PVCs and determine whether PVC characteristics were predictive of LV dysfunction. METHODS: We performed a single-center retrospective review to examine the prevalence of PVC-induced cardiomyopathy and natural history of PVC burden in children with frequent PVCs. Children aged 6 months-21 years with PVCs noted on 24-hr Holter monitoring studies were enrolled. The four categories included those with a PVC burden of >10%, 10%-20%, and those with more than 20% PVC burden. RESULTS: A total of 134 children were included, 65 with more than 10% PVCs and 31 with more than 20% PVCs. Median age of the patients was 10.5 years (IQR 6.1-14.8 years), with 79 males (54.5%). Median PVC burden was 8.7% (IQR 4.2%-16.9%) with median follow-up of 2.8 years (IQR 1.2-4.6 years). During 2.8 years (1.3-4.3 years) of follow-up, the PVC burden decreased by 67% of baseline PVC burden in those who did not undergo any intervention. There were no deaths. CONCLUSION: PVCs in children with structurally normal hearts are associated with a relatively benign course, with trend toward spontaneous resolution.


Assuntos
Eletrocardiografia/métodos , Disfunção Ventricular Esquerda/diagnóstico , Disfunção Ventricular Esquerda/epidemiologia , Complexos Ventriculares Prematuros/epidemiologia , Complexos Ventriculares Prematuros/fisiopatologia , Adolescente , Adulto , Criança , Pré-Escolar , Comorbidade , Feminino , Humanos , Lactente , Masculino , Prevalência , Estudos Retrospectivos , Medição de Risco , Disfunção Ventricular Esquerda/fisiopatologia , Adulto Jovem
7.
J Electrocardiol ; 51(6): 1003-1008, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30497719

RESUMO

BACKGROUND: Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) carries risk of sudden death. We hypothesize that the S-wave angle differentiates ARVD/C with otherwise normal electrocardiograms from controls. MATERIALS AND METHODS: All patients met Task Force 2010 definite ARVD/C criteria. ARVD/C patients without Task Force depolarization/repolarization criteria (-ECG) were compared to controls. Electrocardiogram measures of QRS duration, corrected QT interval, and measured angle between the upslope and downslope of the S-wave in V2, were assessed. RESULTS: Definite ARVD/C was present in 155 patients (42.7 ±â€¯17.3 years, 68.4%male). -ECG ARVD/C patients (66 patients) were compared to 66 control patients (41.8 ±â€¯17.6 years, 65.2%male). Only the S-wave angle differentiated -ECG ARVD/C patients from controls (<0.001) with AU the ROC curve of 0.77 (95%CI 0.53 to 0.71) and odds ratio of 28.3 (95%CI 6.4 to 125.5). CONCLUSION: ARVD/C may lead to development of subtle ECG abnormalities distinguishable using the S-wave angle prior to development of 2010 Taskforce ECG criteria.


Assuntos
Displasia Arritmogênica Ventricular Direita/diagnóstico , Displasia Arritmogênica Ventricular Direita/fisiopatologia , Eletrocardiografia/métodos , Adulto , Estudos Transversais , Feminino , Humanos , Masculino , Fenótipo , Medição de Risco
8.
BMC Cardiovasc Disord ; 17(1): 261, 2017 Oct 13.
Artigo em Inglês | MEDLINE | ID: mdl-29029613

RESUMO

BACKGROUND: Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) carries a risk of sudden death. We aimed to assess whether vectorcardiographic (VCG) parameters directed toward the right heart and a measured angle of the S-wave would help differentiate ARVD/C with otherwise normal electrocardiograms from controls. METHODS: Task Force 2010 definite ARVD/C criteria were met for all patients. Those who did not fulfill Task Force depolarization or repolarization criteria (-ECG) were compared with age and gender-matched control subjects. Electrocardiogram measures of a 3-dimentional spatial QRS-T angle, a right-precordial-directed orthogonal QRS-T (RPD) angle, a root mean square of the right sided depolarizing forces (RtRMS-QRS), QRS duration (QRSd) and the corrected QT interval (QTc), and a measured angle including the upslope and downslope of the S-wave (S-wave angle) were assessed. RESULTS: Definite ARVD/C was present in 155 patients by 2010 Task Force criteria (41.7 ± 17.6 years, 65.2% male). -ECG ARVD/C patients (66 patients) were compared to 66 control patients (41.7 ± 17.6 years, 65.2% male). All parameters tested except the QRSd and QTc significantly differentiated -ECG ARVD/C from control patients (p < 0.004 to p < 0.001). The RPD angle and RtRMS-QRS best differentiated the groups. Combined, the 2 novel criteria gave 81.8% sensitivity, 90.9% specificity and odds ratio of 45.0 (95% confidence interval 15.8 to 128.2). CONCLUSION: ARVD/C disease process may lead to development of subtle ECG abnormalities that can be distinguishable using right-sided VCG or measured angle markers better than the spatial QRS-T angle, the QRSd or QTc, in the absence of Taskforce ECG criteria.


Assuntos
Displasia Arritmogênica Ventricular Direita/diagnóstico , Displasia Arritmogênica Ventricular Direita/fisiopatologia , Eletrocardiografia/métodos , Internacionalidade , Adulto , Estudos de Coortes , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto Jovem
9.
Artigo em Inglês | MEDLINE | ID: mdl-27682160

RESUMO

BACKGROUND: Kawasaki disease (KD) is the leading cause of acquired heart disease in children. Signal average electrocardiogram changes in patients during the acute phase of KD with coronary artery anomalies (CAA) include depolarization changes. We set out to determine if 12-lead-derived atrioventricular depolarization differences can identify CAA in patients with KD. METHODS: A blinded, retrospective case-control study of patients with KD was performed. Deep Q waves, corrected QT-intervals (QTc), spatial QRS-T angles, T-wave vector magnitudes (RMS-T), and a novel parameter for assessment of atrioventricular depolarization difference (the spatial PR angle) and a two dimensional PR angle were assessed. Comparisons between groups were performed to test for significant differences. RESULTS: One hundred one patients with KD were evaluated, with 68 having CAA (67.3%, mean age 3.6 ± 3.0 years, 82.6% male), and 32 without CAA (31.7%, mean age 2.7 ± 3.2 years, 70.4% male). The spatial PR angle significantly discriminated KD patients with CAA from those without, 59.7° ± 31.1° versus 41.6° ± 11.5° (p < .001). A spatial PR angle cutoff value of 56.9° gave positive/negative predictive values and odds ratios of 93.8%, 43.5%, and 11.5% (95% confidence interval (CI) 2.6-52.2). The two dimensional PR angle either below 7° or above 92° gave positive/negative predictive values and odds ratios of 100.0%, 38.8%, and 21.1% (95% CI 1.2-362.8). No other parameters significantly differentiated the groups. CONCLUSION: Atrioventricular depolarization differences, measured by the spatial or two dimensional PR angle differentiate KD patients with CAA versus those without.


Assuntos
Doença da Artéria Coronariana/diagnóstico , Doença da Artéria Coronariana/fisiopatologia , Vasos Coronários/fisiopatologia , Eletrocardiografia/métodos , Síndrome de Linfonodos Mucocutâneos/complicações , Síndrome de Linfonodos Mucocutâneos/fisiopatologia , Estudos de Casos e Controles , Pré-Escolar , Doença da Artéria Coronariana/complicações , Feminino , Humanos , Masculino , Razão de Chances , Estudos Retrospectivos , Fatores de Risco , Método Simples-Cego
10.
J Electrocardiol ; 50(5): 576-583, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28372802

RESUMO

BACKGROUND: Fontan palliation patients are at risk for atrial arrhythmias post-operatively. This study aimed to evaluate whether differences in depolarization vector magnitude or spatial P-R angle can reliably predict atrial arrhythmias in patients who had undergone Fontan palliation. METHODS: A total of 115 patients who had Fontan palliation and post-Fontan catheterization were included. Atrial arrhythmias were identified in 14 patients. Measurements of ECG parameters including QRS vector magnitude, P-R duration, spatial QRS-T angle and spatial P-R angle were performed, and compared between those with and without atrial arrhythmias. RESULTS: Only the QRSvm independently differentiated those with and without atrial arrhythmias with multivariate HR of 0.743 (95% CI 0.581 to 0.951). CONCLUSION: In Fontan patients, the QRSvm was the only significant independent predictor of atrial arrhythmias.


Assuntos
Arritmias Cardíacas/etiologia , Arritmias Cardíacas/fisiopatologia , Eletrocardiografia , Técnica de Fontan/efeitos adversos , Átrios do Coração/fisiopatologia , Cateterismo Cardíaco , Pré-Escolar , Teste de Esforço , Feminino , Humanos , Masculino , Valor Preditivo dos Testes , Estudos Retrospectivos , Fatores de Risco
11.
Cardiol Young ; 27(2): 354-358, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27246458

RESUMO

Introduction The spatial peaks QRS-T angle accurately distinguishes children with hypertrophic cardiomyopathy from their healthy counterparts. The spatial peaks QRS-T angle is also useful in risk stratification for ventricular arrhythmias. We hypothesised that the spatial peaks QRS-T angle would be useful for the prediction of ventricular arrhythmias in hypertrophic cardiomyopathy patients under 23 years of age. METHODS: Corrected QT interval and spatial peaks QRS-T angles were retrospectively assessed in 133 paediatric hypertrophic cardiomyopathy patients (12.4±6.6 years) with versus without ventricular arrhythmias of 30 seconds or longer. Significance, positive/negative predictive values, and odds ratios were calculated based on receiver operating characteristic curve cut-off values. RESULTS: In total, 10 patients with ventricular arrhythmias were identified. Although the corrected QT interval did not differentiate those with versus without ventricular arrhythmias, the spatial peaks QRS-T angle did (151.4±19.0 versus 116.8±42.6 degrees, respectively, p<0.001). At an optimal cut-off value (124.1 degrees), the positive and negative predictive values of the spatial peaks QRS-T angle were 15.4 and 100.0%, respectively, with an odds ratio of 25.9 (95% CI 1.5-452.2). CONCLUSION: In children with hypertrophic cardiomyopathy, the spatial peaks QRS-T angle is associated with ventricular arrhythmia burden with high negative predictive value and odds ratio.


Assuntos
Cardiomiopatia Hipertrófica/complicações , Taquicardia Ventricular/diagnóstico , Vetorcardiografia , Adolescente , Cardiomiopatia Hipertrófica/diagnóstico , Criança , Diagnóstico Diferencial , Feminino , Seguimentos , Humanos , Masculino , Razão de Chances , Valor Preditivo dos Testes , Curva ROC , Estudos Retrospectivos , Taquicardia Ventricular/etiologia , Taquicardia Ventricular/fisiopatologia , Adulto Jovem
12.
Funct Integr Genomics ; 16(1): 57-65, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26432787

RESUMO

Alcaligenes sp. HPC 1271 demonstrated antibacterial activity against multidrug resistant bacteria, Enterobacter sp., resistant to sulfamethoxazole, ampicillin, azithromycin, and tetracycline, as well as against Serratia sp. GMX1, resistant to the same antibiotics with the addition of netilmicin. The cell-free culture supernatant was analyzed for possible antibacterials by HPLC, and the active fraction was further identified by LC-MS. Results suggest the production of tunicamycin, a nucleoside antibiotic. The draft genome of this bacterial isolate was analyzed, and the 4.2 Mb sequence data revealed six secondary metabolite-producing clusters, identified using antiSMASH platform as ectoine, butyrolactone, phosphonate, terpene, polyketides, and nonribosomal peptide synthase (NRPS). Additionally, the draft genome demonstrated homology to the tunicamycin-producing gene cluster and also defined 30 ORFs linked to protein secretion that could also play a role in the antibacterial activity observed. Gene expression analysis demonstrated that both NRPS and dTDP-glucose 4,6-dehydratase gene clusters are functional and could be involved in antibacterial biosynthesis.


Assuntos
Alcaligenes/metabolismo , Antibiose , Farmacorresistência Bacteriana Múltipla , Genoma Bacteriano , Alcaligenes/genética , Alcaligenes/isolamento & purificação , Diamino Aminoácidos/metabolismo , Proteínas de Bactérias/genética , Proteínas de Bactérias/metabolismo , Hidroliases/genética , Hidroliases/metabolismo , Fases de Leitura Aberta , Organofosfonatos/metabolismo , Peptídeo Sintases/metabolismo , Policetídeos/metabolismo , Serratia/efeitos dos fármacos , Terpenos/metabolismo , Tunicamicina/genética , Tunicamicina/metabolismo
13.
Ann Noninvasive Electrocardiol ; 21(5): 493-9, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26780477

RESUMO

INTRODUCTION: Kawasaki disease (KD) is the leading cause of acquired heart disease in children. The 12-lead electrocardiogram (ECG) changes in patients during the acute phase of KD include flattened T waves and prolonged corrected QT intervals (QTc). We set out to determine the 12-lead ECG and vectorcardiography predictors for identification of patients with KD and which of these predictors would be clinically useful for early identification of those with coronary artery anomalies (CAA). METHODS: A blinded, retrospective case-control study of patients with KD and age-matched controls was performed. Deep Q waves, QTc, spatial QRS-T angles, and T-wave vector magnitude (root mean square of the T wave, RMS-T) were assessed. Comparisons between groups were performed to test for significant differences. RESULTS: Fifty patients with KD (mean age 3.1 ± 3.1 years, 26% female) were compared to 50 previously healthy control patients (mean age 3.8 ± 2.9 years, 44% female). Of the KD patients, 32 (64%) were diagnosed as incomplete KD and 28 (56%) of them had CAA. When compared to the control group, KD patients had abnormal Q waves (72% vs 44% P = 0.005), shorter QTc values (395.1 ± 24.7 ms vs 410.4 ± 34.7 ms, P = 0.013), and lower RMS-T (0.42 ± 0.02 mV vs 0.63 ± 0.03 mV P < 0.001), respectively. Incomplete KD was also discriminated from controls by the same parameters. No differences were noted between KD patients with versus without CAA. CONCLUSION: The RMS-T differentiates complete and incomplete KD from controls. KD patients with CAA were not differentiated from those without CAA.


Assuntos
Doença da Artéria Coronariana/etiologia , Eletrocardiografia , Síndrome de Linfonodos Mucocutâneos/complicações , Síndrome de Linfonodos Mucocutâneos/fisiopatologia , Vetorcardiografia , Estudos de Casos e Controles , Pré-Escolar , Feminino , Humanos , Masculino , Valor Preditivo dos Testes , Estudos Retrospectivos
14.
J Electrocardiol ; 48(5): 826-33, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26275983

RESUMO

INTRODUCTION: The spatial peaks QRS-T angle has been shown to differentiate adult patients with hypertrophic cardiomyopathy (HCM) from controls. We hypothesized that the spatial peaks QRS-T angle would, in isolation, be more accurate than the Italian 12-lead ECG Pre-participation Screening criteria or the Seattle criteria for detecting hypertrophic cardiomyopathy (HCM) in pediatric patients. METHODS: A retrospective study of pediatric patients with HCM compared to age and gender-matched control patients was undertaken. Significance, odds ratios, sensitivity and specificity of HCM detection of the visually derived spatial peaks QRS-T angle were compared to those of traditional 12-lead ECG criteria using: 1) Italy's National Pre-participation Screening Programme criteria; and 2) described criteria from Seattle. RESULTS: ECG results from 130 pediatric HCM patients (14.2±4.4years) were compared to 470 control patients (normal echocardiograms, mean age 13.4±4.6years). Mean±standard deviation (SD) values for spatial peaks QRS-T angles were 120.4±40.7 and 21.3±13.7 degrees for HCM and controls, respectively (P<0.001). A spatial peaks QRS-T angle cutoff value of >54.9 degrees yielded greater sensitivity and specificity (93.1% and 98.7%, respectively) for detecting HCM over ECG criteria from Italy (68.5% and 48.1%, respectively) or Seattle (64.6% and 78.9%, respectively) with odds ratios at 1039.70 (95% CI 363.03 to 2977.67), 2.01 (95% CI 1.33 to 3.04) and 6.84 (4.49-10.44), respectively. CONCLUSION: In our cohort, a visually derived spatial peaks QRS-T angle has increased sensitivity and specificity for detection of HCM in pediatric patients compared to currently utilized Italian or Seattle ECG criteria.


Assuntos
Cardiomiopatia Hipertrófica/diagnóstico , Diagnóstico por Computador/métodos , Diagnóstico por Computador/normas , Eletrocardiografia/métodos , Eletrocardiografia/normas , Guias de Prática Clínica como Assunto , Adolescente , Cardiomiopatia Hipertrófica/classificação , Feminino , Humanos , Itália , Masculino , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Estados Unidos
15.
J Electrocardiol ; 47(1): 12-9, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24099887

RESUMO

BACKGROUND: The 12-lead ECG-derived spatial QRS-T angle has prognostic and diagnostic utility, but most ECG machines currently fail to report it. The primary goal was to determine if reasonably accurate methods exist for rapid visual estimations of the spatial peaks QRS-T angle from conventional 12-lead ECG tracings. METHODS AND RESULTS: Simultaneous 12-lead and Frank XYZ-lead recordings were obtained from a publicly available database for 100 post-myocardial infarction patients and 50 controls. ANOVA, Pearson's correlation coefficients and concordance plots were used to evaluate agreement for spatial peaks QRS-T angle results from the true Frank leads versus from several visually applied 12-to-Frank XYZ-lead transforms. The latter included Kors et al.'s regression and quasi-orthogonal, Bjerle and Arvedson's quasi-orthogonal, Dower's inverse, and Hyttinen et al.'s, Dawson et al.'s and Guillem et al.'s transforms. Spatial peaks QRS-T angles derived from the true Frank leads were not statistically significantly different from those derived from any visually applied transform. Of the visually applied transforms, the Kors' regression and Kors' quasi-orthogonal yielded the highest Pearson correlation coefficients against the gold-standard true Frank lead results [0.84 and 0.77, respectively, when individuals with bundle branch blocks were included (N=150), and 0.88 and 0.80, respectively, when individuals with bundle branch blocks were excluded (N=137)]. Bland-Altman 95% confidence intervals showed similar results, with the two Kors'-related methods also having the narrowest confidence intervals. CONCLUSIONS: When visually applied, the Kors' regression-related and quasi-orthogonal transforms allow for reasonably precise spatial peaks QRS-T estimates and thus a potentially practical way to visually estimate spatial peaks QRS-T angles from conventional 12-lead ECGs.


Assuntos
Algoritmos , Diagnóstico por Computador/métodos , Frequência Cardíaca , Infarto do Miocárdio/diagnóstico , Infarto do Miocárdio/fisiopatologia , Vetorcardiografia/métodos , Interpretação Estatística de Dados , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
16.
Recent Adv Antiinfect Drug Discov ; 19(2): 137-147, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37198982

RESUMO

BACKGROUND: "Tuberculosis (TB) remains a major public health problem" worldwide, affecting almost all age groups. "Early diagnosis and prompt treatment are essential to significantly reducing the TB burden." However, a significant proportion of cases remain undiagnosed and untreated, which plays a vital role in the transmission of the disease and severity of the illness in the community in most developing countries. AIMS & OBJECTIVES: This study aimed to assess "the extent of delay in diagnosis and treatment of TB patients" and to identify the major factors associated with such delays (whether patient or health system-related) among TB patients in Rishikesh. METHODS: This descriptive cross-sectional study was conducted in Rishikesh Town, Dehradun District, Uttara khand, India. Total of 130 newly diagnosed TB patients were recruited as study participants who attended the government hospitals of Rishikesh, All India Institute of Medical Sciences, Rishikesh and S P S Government Hospital, Rishikesh. A universal sampling technique was used in this study. RESULTS: The mean age of the study participant was 36.75 (Standard Deviation (SD), 17.6), and the median age was 34 years. Of the patients, 64.6% were men, and 35.4% were women. The extent of various delays, such as patient delay (median 16 days), diagnostic delay (median 78.5 days), treatment delay (median 4 days), health system delay (43 days), and total delay (median 81 days). CONCLUSION: The misconception of any chronic disease may lead to a false diagnosis or long treatment for symptomatic relief; the absence of proper diagnostic tests and doctor shopping could be the reasons for the prolonged diagnostic delay. Therefore, by strengthening the collaboration between private and public practitioners in order to meet the expectations of the Government of India to achieve the goals of the "National Strategic Plan for ending TB" in India by providing good quality care for all patients.


Assuntos
Tuberculose Pulmonar , Tuberculose , Masculino , Humanos , Feminino , Adulto , Estudos Transversais , Tuberculose Pulmonar/diagnóstico , Diagnóstico Tardio/prevenção & controle , Tuberculose/diagnóstico , Hospitais Públicos , Governo
17.
Indian J Med Microbiol ; 50: 100639, 2024 Jun 07.
Artigo em Inglês | MEDLINE | ID: mdl-38823779

RESUMO

INTRODUCTION: Chlamydia trachomatis (CT) and Neisseria gonorrhoeae (NG) are prevalent causes of sexually transmitted infections (STIs) globally, leading to substantial morbidity and transmission risks. METHODS: This study evaluates the diagnostic efficacy of Xpert CT/NG compared to conventional PCR and culture methods in 121 patients at a tertiary care centre in North India. RESULTS: Xpert CT/NG demonstrated high sensitivity (85.8%) and specificity (96.3%) outperforming conventional PCR. Xpert CT/NG's rapidity and accuracy underscore its utility in timely diagnosis and control of STIs. CONCLUSION: As sexually transmitted infections pose a serious health concern implementation of such rapid diagnostic methods/point of care testing methods are to be implemented for early diagnosis.

18.
Int J STD AIDS ; : 9564624241252185, 2024 May 09.
Artigo em Inglês | MEDLINE | ID: mdl-38722079

RESUMO

Background: Neisseria gonorrhoeae is one of the most important causative organisms in causing sexually transmitted infections. The clinical presentation of gonorrhoea mimics the symptoms of other sexually transmitted infections, and a proper diagnosis of the same is therefore crucial in patient management. The current study intended to compare different in-house molecular methods: that is, conventional PCR, real-time PCR, and LAMP assay for detection of N. gonorrhoeae. Methods: A total of 163 samples were collected from 145 patients who presented with urethral and vaginal discharge. Collected samples were processed for culture on GC agar base, and three different molecular diagnostic tests (conventional PCR, real-time PCR, and LAMP assay) were performed simultaneously on all the samples. Results: Culture of N. gonorrhoeae was positive in 17 out of 21 (80.9%) swab samples. With culture as the gold standard method, conventional and real-time PCR had a sensitivity of 94.1%, whereas the sensitivity of the LAMP assay was found to be 88.2%. All three methods had a specificity of 100%. In addition to swab samples, evaluation of urine samples by different molecular methods yielded a good concordance with a kappa value of 0.85 by conventional PCR and real-time PCR showing a perfect level of agreement, while the LAMP assay was found to have a substantial level of agreement. Conclusion: LAMP assay had a comparable diagnostic accuracy to other molecular methods for the detection of N. gonorrhoeae and can be used as a point-of-care test in resource-limited settings.

19.
Curr Hypertens Rev ; 19(3): 173-179, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37581519

RESUMO

INTRODUCTION: The extent of maternal morbidity is a good gauge of a nation's maternal health care system. Maternal near-miss (MNM) cases need to be reviewed because they can indirectly contribute significantly to reducing the maternal mortality ratio in India. MNM cases can provide useful information in this context. Such women who survive these life-threatening conditions arising from complications during pregnancy, childbirth and post partum (42 days) share many commonalities with those who die because of such complications. AIM: To assess the organ dysfunction and the underlying causes, associated/contributory factors associated with "maternal near-miss" cases in pregnant, in labor, post-partum women (upto42 days) in the health care facilities of Doiwala block, district Dehradun. MATERIALS AND METHODS: The present study was conducted over a period of 6 months under the Department of Community and Family Medicine, All India Institute of Medical Sciences, Rishikesh. The cross-sectional study included the medical record files of all pregnant women attending the Department of Obstetrics and Gynecology, in the selected healthcare facilities of Doiwala block, district Dehradun. This study was conducted as per the WHO criteria for "near-miss" by using convenience sampling for the selection of healthcare facilities. The medical record files of all women who were pregnant, in labor, or who had delivered or aborted up to 42 days were included from a period of 01.06.2021 - 31.05.2022. RESULTS: It was found that Out of the women with maternal near-miss (n=91), the majority of women had coagulation /hematological dysfunction (n=45, 49.4%), followed by neurologic dysfunction (n=15, 16.4%), cardio-vascular dysfunction (n=11, 12%). Out of the total women with a maternal near-miss (n = 91), 10 women underwent multiple organ dysfunctions. Of the total 91 maternal near-miss cases, the underlying cause of near-miss was obstetric hemorrhage in almost half the participants (n=45, 49.5%) followed by hypertensive disorders (n=36, 39.5%). Eleven women had a pregnancy with abortive outcomes (12%) and 7 women had pregnancy-related infection. It was also seen that, out of 91 near-miss women, the leading contributory /associated cause was Anemia (n=89, 97.8%) followed by women having a history of previous cesarean section (n=63, 69.2%). Sixteen women had prolonged /obstructed labor (n = 16, 17.58%). CONCLUSION: Pregnancy should be a positive experience for every woman of childbearing age. A better understanding of pregnancy-related conditions enables early detection of complications and prevents the conversion of mild to moderate maternal morbidity outcomes to severe maternal outcomes with long-term health implications or death. There are already effective measures in place to reduce maternal and newborn mortality and morbidity.


Assuntos
Near Miss , Complicações do Trabalho de Parto , Complicações na Gravidez , Recém-Nascido , Feminino , Gravidez , Humanos , Estudos Retrospectivos , Complicações do Trabalho de Parto/diagnóstico , Complicações do Trabalho de Parto/epidemiologia , Estudos Transversais , Cesárea , Insuficiência de Múltiplos Órgãos , Complicações na Gravidez/diagnóstico , Complicações na Gravidez/epidemiologia , Atenção à Saúde
20.
Cureus ; 15(7): e41590, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37559844

RESUMO

Tick-borne encephalitis virus (TBEV) is a global public health concern, and understanding its transmission routes is crucial for effective prevention and control. While tick bites are the primary mode of TBEV transmission, emerging evidence suggests the potential for TBEV transmission through breast milk from infected mothers to their infants. This review article provides an overview of the current knowledge regarding TBEV transmission through breast milk and its clinical implications. It explores the presence and persistence of TBEV in breast milk, potential mechanisms of transmission, and the role of immune factors in facilitating or inhibiting viral transmission. The clinical outcomes and complications in infants infected with TBEV through breast milk are discussed, along with the epidemiological patterns and geographical considerations of this transmission mode. Preventive and management strategies are also addressed, including public health measures, risk assessment, and potential interventions. Future research directions are highlighted, emphasizing the need for further epidemiological studies, investigations into viral load dynamics, immune responses, and the development of preventive measures targeting TBEV transmission through breast milk. By expanding our knowledge in these areas, we can improve strategies to reduce the risk of TBEV transmission from mothers to infants and protect vulnerable populations.

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