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1.
Am J Cardiol ; 205: 298-301, 2023 10 15.
Artigo em Inglês | MEDLINE | ID: mdl-37633064

RESUMO

Our study aimed to explore the national trends in the rates of perioperative complications, in-hospital mortality, and readmissions after pericardiectomy and the impact of center volume on these outcomes. Using the Nationwide Readmission Database, we identified patients who underwent isolated pericardiectomy from 2010 to 2019. In-hospital mortality and readmission rates were assessed using orthogonal polynomial contrasts, with the linear and nonlinear trends evaluated as needed. Multivariable logistic regression models were constructed to identify the independent predictors of mortality and readmission. All analyses accounted for the Nationwide Readmission Database sampling design and were performed using SAS version 9.4 (SAS Institute Inc. Cary, NC.) with p <0.05 used to indicate statistical significance. A total of 26,169 hospitalizations for pericardiectomy were identified during the study period. The median age was 59 years and 44% were female. In-hospital mortality was 5.2%, and the median length of stay was 7 days. Advanced age, higher co-morbidity index, and lower annual facility pericardiectomy volume were independent predictors of in-hospital mortality. The 30- and 90-day readmission rates after pericardiectomy were 18% and 28%, respectively. Previous cardiac surgery, diagnosis of constrictive pericarditis, and greater co-morbidity score were independent predictors of readmission. In conclusion, isolated pericardiectomy rates have remained mostly constant, with relatively small changes in in-hospital mortality and 30- and 90-day readmission rates over the last decade. Advanced age, lower facility pericardiectomy volume, and higher Elixhauser co-morbidity index are independent predictors of surgical mortality.


Assuntos
Readmissão do Paciente , Pericardiectomia , Humanos , Feminino , Estados Unidos/epidemiologia , Pessoa de Meia-Idade , Masculino , Mortalidade Hospitalar , Meios de Contraste , Bases de Dados Factuais
2.
J Innov Card Rhythm Manag ; 13(7): 5087-5099, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35949646

RESUMO

Surgical quality and safety in radiofrequency catheter ablation (RFA) are critical in arrhythmia procedures. Steam pops, in particular, are potentially catastrophic events that must be avoided; otherwise, they may cause significant damage to the myocardium. This study aimed to evaluate the effect of applied RFA inclination angle and tissue contact parameters on the ablated volume and "steam pop" formation. An ex vivo model consisting of a viable ovine myocardium, an ablation catheter, and a circulating warmed 0.9% NaCl saline solution was used. RFA was conducted while controlling for contact force, electrical power, ablation time, flow rate, irrigation, and catheter tip angle. Irrigation was delivered to the catheter tip manually when indicated. Acoustic transducers were included in the setup to detect preliminary acoustic signals. A total dataset of 567 measurements was taken. Benign precursory signals (hissing and lower-intensity "pops") were detected by acoustic sensors preceding the occurrence of "steam pops." Furthermore, a Pearson coefficient of r = 0.809 with P < .01 was shown to exist between the acoustic intensity of a "steam pop" and the ablated lesion volume. RFA powers of 25 and 30 W with a duration of 20 s induced more "steam pops" than ablation powers of ≤20 W with a duration of ≥30 s. There was also an increased probability of "steam pop" formation with the use of a non-irrigated catheter tip, as compared to an irrigated catheter tip. A more acute catheter angle increased the lesion size at powers of 20 and 25 W (r = -0.568 and r = -0.653, both P < .05, respectively). There is a potential benefit of using acoustic sensing as a warning before the occurrence of "steam pops." Varying power, duration, and catheter tip angle will generate different ablation sizes and need to be tailored to individual needs and procedures.

3.
Coron Artery Dis ; 33(2): 69-74, 2022 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-34074913

RESUMO

OBJECTIVE: The principal trend in acute coronary syndrome (ACS) is increasing utilization of percutaneous coronary interventions (PCI) and declining coronary artery bypass graft surgery (CABG) utilization. This study was designed to evaluate whether higher PCI:CABG ratios lead to higher in-hospital PCI or CABG mortality. METHODS: The National Readmission Database for years 2016 was queried for all hospitalized ACS patients who underwent coronary revascularization during their admission. The study population was derived from 355 US hospitals and included 103 021 patients. Hospitals were grouped based on their PCI:CABG ratio into low, intermediate, and high ratio quartiles with a median [interquartile ranges (IQR)] PCI:CABG ratio of 2.9 (2.5-3.2), 5.0 (4.3-5.9) and 8.9 (7.8-10.3), respectively multivariable logistic regression with adjustment for age, demographics and comorbidities were used to identify CABG:PCI ratio related risk for in-hospital CABG and PCI mortality. RESULTS: Higher PCI:CABG ratios correlated with an increased CABG mortality. There was a median (IQR) mortality of 2.5% (1.6-4.3) in the low ratio quartile; 3.1% (1.9-5.3) in the intermediate quartiles; and 5.3% (3.2-9.1) in the high ratio quartile (P < 0.001). On multivariate analysis, the PCI:CABG ratio was associated with an increased risk for CABG mortality with an adjusted odds ratio of 1.38 (95% CI, 1.14-1.67, P < 0.001) and 2.17 (95% CI, 1.70-2.80, P < 0.001) for hospitals with intermediate and high PCI:CABG ratios, respectively. There was no significant association between PCI:CABG ratio and PCI mortality. CONCLUSIONS: The programmatic PCI:CABG ratio is a valid indicator of optimal case selection. The PCI:CABG ratio correlates with in-hospital mortality in ACS.


Assuntos
Síndrome Coronariana Aguda/terapia , Ponte de Artéria Coronária/reabilitação , Revascularização Miocárdica/estatística & dados numéricos , Intervenção Coronária Percutânea/reabilitação , Síndrome Coronariana Aguda/complicações , Síndrome Coronariana Aguda/fisiopatologia , Idoso , Ponte de Artéria Coronária/métodos , Ponte de Artéria Coronária/estatística & dados numéricos , Feminino , Mortalidade Hospitalar/tendências , Humanos , Masculino , Pessoa de Meia-Idade , Revascularização Miocárdica/métodos , Intervenção Coronária Percutânea/métodos , Intervenção Coronária Percutânea/estatística & dados numéricos
4.
Cardiovasc Revasc Med ; 34: 56-60, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-33632638

RESUMO

OBJECTIVE: We aimed to study the impact of frailty on the outcome of transcatheter aortic valve replacement (TAVR) procedures. METHODS: The National Inpatient Sample (NIS) database was queried for all patients aged ≥65 years who underwent a TAVR procedure during the years 2016-2017. Frailty was measured using a previously validated Hospital Frailty Risk Score (HFRS) scoring system. The score is ICD-10 code based; thus, it can be calculated from an administrative database. Study outcomes were in-hospital all-cause mortality, peri-procedural complications, length of stay, and total cost. Outcomes were modeled using logistic regression for binary outcomes and generalized linear regression for continuous outcomes. RESULTS: There were 84,750 patients included in the study. These patients were divided into low-risk (61,050), intermediate-risk (22,955), and high-risk (744), based on average frailty index scores of 2, 7, and 16.8, respectively. On multivariable analysis, the HFRS correlated with increased odds for mortality with an adjusted odd ratio (a-OR) of 1.25 (95% CI: 1.22-1.29, p < 0.001), myocardial infarction [a-OR 1.10 (95% CI: 1.07-1.13, p < 0.001)], pericardiocentesis [a-OR 1.16 (95% CI: 1.12-1.20, p < 0.001)], pacemaker insertion [a-OR 1.06 (95% CI: 1.04-1.08, p < 0.001)], blood transfusion [a-OR 1.14 (95% CI: 1.11-1.16, p < 0.001)], vascular complications [a-OR 1.05 (95% CI: 1.00-1.09, p = 0.03)], longer length of stay [a-MR 1.10 (95% CI: 1.10-1.11, p < 0.001)] and higher cost [a-MR: 1.04 (95% CI: 1.03-1.04, p < 0.001)]. CONCLUSION: The HFRS can be utilized in the risk stratification of older patients undergoing TAVR.


Assuntos
Estenose da Valva Aórtica , Fragilidade , Substituição da Valva Aórtica Transcateter , Idoso , Valva Aórtica/cirurgia , Estenose da Valva Aórtica/complicações , Estenose da Valva Aórtica/diagnóstico por imagem , Estenose da Valva Aórtica/cirurgia , Fragilidade/complicações , Fragilidade/diagnóstico , Mortalidade Hospitalar , Humanos , Pacientes Internados , Tempo de Internação , Complicações Pós-Operatórias , Fatores de Risco , Substituição da Valva Aórtica Transcateter/efeitos adversos , Resultado do Tratamento , Estados Unidos/epidemiologia
5.
J Geriatr Cardiol ; 18(9): 702-710, 2021 Sep 28.
Artigo em Inglês | MEDLINE | ID: mdl-34659376

RESUMO

OBJECTIVE: To compare the outcomes of transapical transcatheter aortic valve replacement (TA-TAVR) and surgical aortic valve replacement (SAVR) using a large US population sample. METHODS: The U.S. National Inpatient Sample was queried for all patients who underwent TA-TAVR or SAVR during the years 2016-2017. The primary outcome was all-cause in-hospital mortality. Secondary outcomes were in-hospital stroke, pericardiocentesis, pacemaker insertion, mechanical ventilation, vascular complications, major bleeding, acute kidney injury, length of stay, and cost of hospitalization. Outcomes were modeled using multi-variable logistic regression for binary outcomes and generalized linear models for continuous outcomes. RESULTS: A total of 1560 TA-TAVR and 44,280 SAVR patients were included. Patients who underwent TA-TAVR were older and frailer. Compared to SAVR, TA-TAVR correlated with a higher mortality (4.5% vs. 2.7%, effect size (SMD) = 0.1) and higher periprocedural complications. Following multivariable analysis, both TA-TAVR and SAVR had a similar adjusted risk for in-hospital mortality. TA-TAVR correlated with lower odds of bleeding with (adjusted OR (aOR) = 0.26; 95% CI: 0.18-0.38;P < 0.001), and a shorter length of stay (adjusted mean ratio (aMR) = 0.77; 95% CI: 0.69-0.84; P < 0.001), but higher cost (aMR = 1.18; 95% CI: 1.10-1.28; P < 0.001). No significant differences in other study outcomes. In subgroup analysis, TA-TAVR in patients with chronic lung disease had higher odds for mortality (aOR = 3.11; 95%CI: 1.37-7.08; P = 0.007). CONCLUSION: The risk-adjusted analysis showed that TA-TAVR has no advantage over SAVR except for patients with chronic lung disease where TA-TAVR has higher mortality.

6.
Am J Cardiol ; 141: 127-132, 2021 02 15.
Artigo em Inglês | MEDLINE | ID: mdl-33217346

RESUMO

We aimed to evaluate the role of gender differences in the outcomes of catheter-based peripheral arterial disease interventions on a national level. We queried the National Inpatient Sample Database and identified all patients who presented with acute or symptomatic long term limb ischemia requiring transcatheter nonsurgical peripheral intervention in the years of 2016 to 2017. The primary outcome was major adverse cardiovascular events (MACE), defined as the composite end point of in-hospital mortality, nonfatal stroke, and acute myocardial infarction. Secondary outcomes were the subject components of the primary end point, vascular complications, major bleeding, acute kidney injury, limb amputation, total cost, and length of stay. A total of 58,165 patients were included. The majority were males (57.2%) and of white race (67.1%). On multivariate analysis, female gender was an independent predictor of MACE with an adjusted odd ratio (a-OR) of 1.36 (95% confidence interval [CI]: 1.12 to 1.65, p = 0.002), mortality (a-OR 1.52; 95% CI: 1.12 to 2.04, p = 0.006), nonfatal stroke (a-OR 2.51; 95% CI: 1.56 to 4.03, p < 0.001), major bleeding (a-OR 1.87; 95% CI: 1.53 to 2.28, p < 0.001), and higher cost with an adjusted mean ratio of 1.03 (95% CI: 1.00 to 1.06, p = 0.033). There was no significant difference in the rates of myocardial infarction, vascular complications, limb amputation, acute kidney injury, and length of stay. In conclusion, females presenting with acute or symptomatic long term limb ischemia requiring transcatheter peripheral intervention have a significantly higher composite risk of MACE.


Assuntos
Injúria Renal Aguda/epidemiologia , Angioplastia , Procedimentos Endovasculares , Mortalidade Hospitalar , Infarto do Miocárdio/epidemiologia , Doença Arterial Periférica/cirurgia , Hemorragia Pós-Operatória/epidemiologia , Acidente Vascular Cerebral/epidemiologia , Idoso , Idoso de 80 Anos ou mais , Amputação Cirúrgica/estatística & dados numéricos , Feminino , Custos de Cuidados de Saúde , Humanos , Tempo de Internação/estatística & dados numéricos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Complicações Pós-Operatórias/epidemiologia , Fatores Sexuais , Estados Unidos/epidemiologia
7.
Oxf Med Case Reports ; 2020(2): omaa011, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33133628

RESUMO

Giant right atrium (RA) is a rare entity often seen during childhood due to congenital anomalies. Limited literature has reported such finding in patients with rheumatic valvular heart disease. Here we present a case of a 68-year-old female with a history of rheumatic valve disease treated with a Starr Edwards mechanical ball-in-cage mitral valve replacement and tricuspid valve annuloplasty ring procedures. The patient developed heart failure and had multiple hospital admissions over three decades for heart failure exacerbations mostly triggered by medication and dietary non-compliance. She eventually developed a giant RA that filled most of her thorax. This case demonstrates an extreme form of cardiac remodeling caused by long-term rheumatic valvular heart disease.

8.
Cardiovasc Revasc Med ; 21(8): 964-970, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32553852

RESUMO

BACKGROUND: To evaluate the trends in complication rates following transcatheter aortic valve replacement (TAVR) procedures according to the type of vascular approach (endovascular vs. transapical) in a large US population sample. METHODS: The National Inpatient Sample (NIS) was queried for all patients diagnosed with aortic stenosis who underwent a TAVR procedure in the United States during the years 2012-2016. Outcomes assessed were peri-procedural mortality, cardiac, and non-cardiac complications. Hospitalization outcomes were modeled using logistic regression for binary outcomes and generalized linear models for continuous outcomes. RESULTS: There were 97,320 endovascular-TAVR patients and 11,140 transapical-TAVR patients. The mean age was 80.8 years (standard error of the mean: ± 0.1). Most patients were males (53.7%) and Caucasian (87.1%). On multivariate analysis, after adjusting for age, gender, comorbidities, as well as hospital factors, patients with the transapical approach had a higher risk for mortality and adverse outcomes. Among the endovascular-TAVR group, national trends showed a diminishing incidence of procedural mortality (incidence rate ratio [IRR] 0.77; 95% CI: 0.72-0.84, p < 0.001), stroke (IRR 0.80; 95% CI: 0.73-0.87, p < 0.001), and all secondary outcomes, but no significant change in myocardial infarction. In contrast, most transapical-TAVR related procedural complications remained unchanged over time, except for a significant decrease in stroke, acute respiratory failure and need for pacemaker insertion. CONCLUSION: National trends show a steady increase in the number of endovascular-TAVR procedures with a concurrent decrease in procedural complications.


Assuntos
Estenose da Valva Aórtica/cirurgia , Valva Aórtica/cirurgia , Procedimentos Endovasculares/tendências , Avaliação de Processos e Resultados em Cuidados de Saúde/tendências , Substituição da Valva Aórtica Transcateter/tendências , Idoso , Idoso de 80 Anos ou mais , Estenose da Valva Aórtica/mortalidade , Bases de Dados Factuais , Procedimentos Endovasculares/efeitos adversos , Procedimentos Endovasculares/mortalidade , Feminino , Humanos , Pacientes Internados , Masculino , Complicações Pós-Operatórias/epidemiologia , Medição de Risco , Fatores de Risco , Fatores de Tempo , Substituição da Valva Aórtica Transcateter/efeitos adversos , Substituição da Valva Aórtica Transcateter/mortalidade , Resultado do Tratamento , Estados Unidos/epidemiologia
9.
Int J Cardiol Hypertens ; 7: 100056, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33447777

RESUMO

OBJECTIVES: Patients with systemic lupus erythematosus (SLE) are at higher risk for coronary artery disease (CAD) particularly at a younger age. We sought to determine the effect of risk factors on the prevalence of CAD in age stratified hospitalized patients with SLE. METHODS: The National Inpatient Sample (NIS) was queried for hospitalized patients with SLE during the years 2010-2015, and a control group without SLE. The study sample was stratified by age, 18-35 years, 36-55 years, and adults >55 years. The effect of SLE and traditional Framingham risk factors on the prevalence of CAD were assessed. Dominance analysis allowed for ranking of CAD risk factors in each age group. RESULTS: A total 167,466 patients were matched to an equal number of controls. 88.8% were women, 48.5% Caucasian and 29% African-American. In lupus patients 18-35 years prevalent risk factors included hyperlipidemia, hypertension, hypercoagulability and CKD. Diabetes and depression ranked least important. In middle and older patients, traditional risk factors were dominant. In adults >55 years the prevalence of CAD appears higher in Caucasians whereas in young patients 18-35 years, African Americans are dominant. CONCLUSION: CAD in the young adult patient with SLE is represented predominately by an African-American population and it is dominated by a hypercoagulable state and a less significant role for diabetes. In the lupus cohort over 55 years, which is predominantly Caucasian, SLE specific factors are less significant.

10.
Oxf Med Case Reports ; 2019(11): 470-472, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31844529

RESUMO

Phytophotodermatitis, also commonly known as phototoxic dermatitis, is a common skin condition that occurs after contact with certain plants and subsequent exposure to sunlight. It is often confused with skin burns due to the blistering nature of its lesions. We herein report a case of phytophotodermatitis that developed in a 26-year-old male following contact with lime and subsequent exposure to sunlight.

11.
Case Rep Cardiol ; 2019: 9347198, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31687218

RESUMO

Acute coronary syndrome (ACS) secondary to a coronary embolism is an unusual occurrence, yet an important consideration given the difficult diagnosis. We report a case of a 69-year-old male with a medical history of paroxysmal atrial fibrillation who presented with chest pain and shortness of breath. A coronary angiogram was significant for three focal transluminal and translucent areas in the ostial, mid, and distal circumflex artery consistent with embolic disease. The patient was subsequently managed medically with anticoagulation. Despite being a relatively rare entity, thromboembolism into the coronary arteries can provoke an acute myocardial infarction, with atrial fibrillation being the most common risk factor. Treatment modalities for ACS secondary to thromboembolism include stent placement, intracoronary thrombolysis, and thrombus aspiration.

12.
Case Rep Cardiol ; 2019: 3562871, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31192016

RESUMO

Aortic dissection is the most devastating sequelae of aortopathy other than aortic rupture. However, aortic dissection can be asymptomatic in the acute phase with delayed symptomatic presentation or incidental diagnosis upon chest imaging. We report a case of a 63-year-old male who was diagnosed with pericardial effusion upon preoperative workup for elective cholecystectomy. Further investigations confirmed hemorrhagic pericardial effusion secondary to a chronic dissecting ascending aortic aneurysm. The patient condition was successfully managed with open surgical repair with an uneventful postoperative course. This case demonstrates an extremely rare presentation of incidental hemorrhagic pericardial effusion caused by a chronic dissecting ascending aortic aneurysm.

13.
IDCases ; 17: e00561, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31193507

RESUMO

Aggregatibacter aphrophilus is a rare cause of infective endocarditis that was first described in 1940 by Khairat et al. and is now classified under the HACEK group of bacteria (Haemophilus spp., Aggregatibacter spp., Cardiobacterium hominis, Eikenella corrodens, and Kingella kingae). There is limited literature describing the extracardiac complications of infective endocarditis caused by this organism. We report a case of a 53-year-old male with no significant past medical history who developed acute infective endocarditis complicated by a brain abscess caused by A. aphrophilus. The patient underwent aspiration of the abscess and treated with a long course of intravenous antimicrobials. This case represents a rare complication of infective endocarditis caused by A. aphrophilus and to the best of our knowledge, is the second reported case in the literature describing such a complication in a previously healthy patient. Although neurological sequela is associated with higher mortality and may be the presenting symptom of infective endocarditis, it may also be clinically silent - only detected upon imaging.

14.
J Mol Diagn ; 21(4): 602-611, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-31028938

RESUMO

A cohort of 1242 individuals tested in a clinical diagnostic laboratory was used to test whether the filtering allele frequencies (FAFs)-based framework, recently recommended for MHY7-associated cardiomyopathy, is extendable to 45 cardiomyopathy genes. Statistical analysis revealed a threshold of 0.00164% for the extreme outlier allele frequencies (AFs), based on the Genome Aggregation Database (exome fraction) total AFs of 138 unique pathogenic and likely pathogenic variants; 135 of them (97.8%) had AFs of <0.004%, the recommended threshold to apply moderate pathogenicity evidence for MYH7-associated cardiomyopathy. Of the 460 cases reported with only variant(s) of unknown clinical significance (VUCSs), 97 (21%) solely had VUCSs with FAFs >0.03%, frequencies above which were estimated herein as strong evidence against pathogenicity. Interestingly, 74.5% (172/231) of the unique VUCSs with FAFs >0.03% had Genome Aggregation Database maximum allele frequencies across all populations AFs >0.1%, deemed herein as stand-alone evidence against pathogenicity. Accordingly, using an FAF threshold of >0.1%, compared with AF >1%, led us to issue considerably more (25.9% versus 41.3%) negative patient reports. Also, 82.7% (N = 629) of the unique classified benign or likely benign variants with AFs <1% had FAFs >0.1%, reinforcing the use of this filtering strategy. Together, these data demonstrate that implementing FAF thresholds may considerably decrease the amount of variant interpretations and significantly reduce the cost of genetic testing for clinical genetic laboratories, without compromising the accuracy of genetic diagnostic services.


Assuntos
Frequência do Gene , Testes Genéticos , Variação Genética , Laboratórios , Alelos , Cardiomiopatias/diagnóstico , Cardiomiopatias/genética , Análise Custo-Benefício , Testes Genéticos/métodos , Sequenciamento de Nucleotídeos em Larga Escala , Humanos
15.
J Mol Diagn ; 21(3): 437-448, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30731207

RESUMO

Inherited cardiomyopathies (ICs) are a major cause of heart disease. Given their marked clinical and genetic heterogeneity, the content and clinical utility of IC multi-gene panels has been the topic of continuous debate. Our genetics diagnostic laboratory has been providing clinical diagnostic testing for ICs since 2012. We began by testing nine genes and expanded our panel by fivefold in 2015. Here, we describe the implementation of a cost-effective next-generation sequencing (NGS)-based assay for testing of IC genes, including a protocol that minimizes the amount of Sanger sequencing required to confirm variants identified by NGS, which reduces the cost and time of testing. The NGS assay was developed for the simultaneous analysis of 45 IC genes and was assessed for the impact of panel expansion on variant detection, turnaround time, and cost of testing in a cohort of 993 patients. The assay led to a considerable reduction in test cost and turnaround time. However, only a marginal increase was observed in the diagnostic yield, whereas the rate of inconclusive findings increased considerably. These findings suggest that the ongoing evaluation of gene content and monitoring of clinical utility for multi-gene tests are essential to achieve maximum clinical utility of multi-gene tests in a publicly funded health care setting.


Assuntos
Cardiomiopatias/diagnóstico , Cardiomiopatias/genética , Atenção à Saúde , Testes Genéticos , Padrões de Herança/genética , Técnicas de Diagnóstico Molecular , Sequenciamento de Nucleotídeos em Larga Escala/normas , Humanos , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Análise de Sequência de DNA/normas
16.
J Med Genet ; 56(6): 408-412, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30242101

RESUMO

BACKGROUND: Advances in molecular technologies and in-silico variant prediction tools offer wide-ranging opportunities in diagnostic settings, yet they also present with significant limitations. OBJECTIVE: Here, we contextualise the limitations of next-generation sequencing (NGS), multiplex ligation-dependent probe amplification (MLPA) and in-silico prediction tools routinely used by diagnostic laboratories by reviewing specific experiences from our diagnostic laboratory. METHODS: We investigated discordant annotations and/or incorrect variant 'callings' in exons of 56 genes constituting our cardiomyopathy and connective tissue disorder NGS panels. Discordant variants and segmental duplications (SD) were queried using the National Center for Biotechnology Information (NCBI) Basic Local Alignment Search Tool and the University of California Santa Cruz genome browser, respectively, to identify regions of high homology. Discrepant variant analyses by in-silico models were re-evaluated using updated file entries. RESULTS: We observed a 5% error rate in MYH7 variant 'calling' using MLPA, which resulted from >90% homology of the MYH7 probe-binding site to MYH6. SDs were detected in TTN, PKP2 and MYLK. SDs in MYLK presented the highest risk (15.7%) of incorrect variant 'calling'. The inaccurate 'callings' and discrepant in-silico predictions were resolved following detailed investigation into the source of error. CONCLUSION: Recognising the limitations described here may help avoid incorrect diagnoses and leverage the power of new molecular technologies in diagnostic settings.


Assuntos
Técnicas de Diagnóstico Molecular , Medicina Molecular , Alelos , Biologia Computacional/métodos , Gerenciamento Clínico , Duplicação Gênica , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Técnicas de Diagnóstico Molecular/métodos , Técnicas de Diagnóstico Molecular/normas , Medicina Molecular/métodos , Medicina Molecular/normas , Anotação de Sequência Molecular
17.
Gastroenterology Res ; 11(5): 374-378, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30344810

RESUMO

Spontaneous isolated superior mesenteric artery dissection (ISMAD) is an uncommon cause of abdominal pain. Clinical presentation ranges from an asymptomatic incidental finding to acute bowel ischemia or fatal aneurysmal super mesenteric artery (SMA) rupture. We report the case of a 58-year-old male presenting with abdominal pain. Imaging studies revealed an ISMAD without radiological evidence of bowel ischemia. The patient was successfully treated using a conservative approach including bowel rest and anticoagulation. ISMAD incidence is expected to increase with the utilization of advanced imaging modalities. Thus, an ISMAD should be suspected when other common causes of an acute abdomen have been excluded. Given the lack of evidence-based guidelines, management options include conservative treatment and anticoagulation, endovascular stenting, or open surgical repair.

18.
Gastroenterology Res ; 11(5): 379-382, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30344811

RESUMO

Spontaneous isolated celiac artery dissection (SICAD) is extremely rare. We herein report a case of a 43-year-old male with no known history of cardiovascular disease who presented to the emergency department (ED) with sudden onset severe epigastric abdominal pain without a known trigger. Abdominal computed tomography (CT) scan showed a focal dissection and irregular enhancement of the celiac trunk with associated splenic artery embolus and large splenic infarct. The patient was successfully treated conservatively with blood pressure control, antiplatelet and anticoagulation therapy.

20.
Genet Med ; 20(3): 365-368, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29240080

RESUMO

PurposeThe advent of next-generation sequencing resulted in substantial increases in the number of variants detected, interpreted, and reported by molecular genetics diagnostic laboratories. Recent publications have provided standards for the interpretation of sequence variants, but there are currently no standards regarding reinterpretation of these variants. Recognizing that significant changes in variant classification may occur over time, many genetics diagnostic laboratories have independently developed practices for variant reinterpretation. The purpose of this study is to describe our laboratory approach to variant reinterpretation.MethodsWe surveyed eight genetics diagnostic laboratories in Canada and the United States.ResultsEach laboratory had differing protocols, but most felt that clinically relevant changes to variant classifications should be communicated to ordering providers. Based on results of this survey and our experience, we developed a cost-effective and resource-efficient approach to variant reinterpretation.ConclusionOngoing variant reinterpretation is required to maintain the highest standards for delivering genetics laboratory services. Our approach to variant reinterpretation offers an efficient solution that does not compromise accuracy or timely delivery of genetics laboratory services.


Assuntos
Variação Genética , Anotação de Sequência Molecular/normas , Canadá , Comunicação , Estudos de Associação Genética/métodos , Estudos de Associação Genética/normas , Predisposição Genética para Doença , Testes Genéticos/normas , Guias como Assunto , Pesquisas sobre Atenção à Saúde , Humanos , Laboratórios , Estados Unidos , Fluxo de Trabalho
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