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1.
Am J Case Rep ; 25: e942881, 2024 May 15.
Article in English | MEDLINE | ID: mdl-38745406

ABSTRACT

BACKGROUND Schwannomas are tumors that arise from Schwann cells that surround and support nerve cells. Most common sites for presentations are head, neck, and extremities. Schwannomas of gastrointestinal tract are rare, slow-growing tumors, usually benign, arising from gastrointestinal tract's neural plexus. They are histologically distinguishable from conventional schwannomas that arise in soft tissue or the central nervous system. Preoperative diagnosis of gastrointestinal schwannoma is challenging, requiring immunohistological confirmation of the nature of the tumor. Here, we report a case of 57-year-old woman with an incidental finding of an asymptomatic submucosal jejunal schwannoma. CASE REPORT A 57-year-old woman with a medical history of hematological disorder underwent a contrast abdominal computed tomography as part of medical follow-up. The imaging revealed the presence of a jejunal mass. The patient underwent laparoscopic surgical resection of the lesion, followed by side-to-side jejuno-jejunal anastomosis with 4-cm clear surgical margins. The final pathologic study revealed the presence of jejunal schwannoma, as tested positive for S-100 protein. The patient was discharged home on the fourth postoperative day, having an uneventful recovery. CONCLUSIONS Jejunal schwannoma are usually benign and asymptomatic, and they are often discovered incidentally during diagnostic tests for other conditions; therefore, it should be included in the differential diagnosis of gastrointestinal tumors. Surgical treatment appears to be necessary to achieve a definitive diagnosis through a biopsy of the tumor tissue. Benign jejunal schwannomas have a good prognosis.


Subject(s)
Incidental Findings , Jejunal Neoplasms , Neurilemmoma , Humans , Neurilemmoma/diagnosis , Neurilemmoma/surgery , Neurilemmoma/pathology , Female , Middle Aged , Jejunal Neoplasms/diagnosis , Jejunal Neoplasms/surgery , Jejunal Neoplasms/pathology , Asymptomatic Diseases , Tomography, X-Ray Computed
2.
J Med Vasc ; 49(2): 80-89, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38697714

ABSTRACT

INTRODUCTION AND AIM: The advances and the wide use of brain imaging have considerably increased the prevalence of silent brain infarctions (SBI). We aim in this study to determine the prevalence of SBI in patients presenting with acute cardioembolic stroke and the predictive cardiovascular risk factors. METHODS: This retrospective study included 267 patients presenting with acute cardioembolic stroke in the emergency and/or neurology departments of the Hassan II University Hospital Center. Clinical, biological and echocardiographic characteristics were recorded. All patients were screened for SBI by brain imaging. RESULTS: The prevalence of SBI in our series was 46%. A group of 203 non-valvular patients and a group of 64 valvular patients were distinguished. In non-valvular group, the average age was 72.97±10.53years. The prevalence of SBI was 45.3%. Forty-four percent of patients with SBI had atrial fibrillation (AF). In multivariate regression analysis, the history of previous stroke, CHA2DS2-VASc Score≥4, enlarged left atrium (LA), the association of AF with enlarged LA and the lability of International Normalized Ratio in patients initially treated with anticoagulants were significantly associated with the occurrence of SBI (P=0.013, P=0.032, P=0.0001, P=0.01, P=0.03, respectively). Territorial location was significantly the most frequent (P=0.007). In valvular group, the average age was 57.19±14.38years. The prevalence of SBI was 48.4%. In multivariate regression analysis, SBI were significantly associated with moderate or severe mitral stenosis (P=0.02) and with the enlarged LA (P=0.02). In all patients, Modified Rankin Scale at 3 months of discharge from the acute stroke was significantly higher (mRS≥3) in patients with SBI (P=0.04). CONCLUSIONS: SBI requires good management of associated cardiovascular risk factors in a population presenting with initial cardioembolic stroke.


Subject(s)
Brain Infarction , Embolic Stroke , Humans , Male , Female , Retrospective Studies , Aged , Middle Aged , Prevalence , Embolic Stroke/epidemiology , Embolic Stroke/etiology , Embolic Stroke/diagnostic imaging , Risk Factors , Aged, 80 and over , Brain Infarction/epidemiology , Brain Infarction/diagnostic imaging , Brain Infarction/etiology , Asymptomatic Diseases , Multivariate Analysis , Atrial Fibrillation/epidemiology , Atrial Fibrillation/complications , Atrial Fibrillation/diagnosis
3.
Folia Med (Plovdiv) ; 66(2): 221-226, 2024 Apr 30.
Article in English | MEDLINE | ID: mdl-38690817

ABSTRACT

INTRODUCTION: Primary hyperparathyroidism (PHPT) is a common endocrine disease with a variable presentation. There is a recent increase in the number of asymptomatic cases due to the use of multichannel automated analyzers.


Subject(s)
Hyperparathyroidism, Primary , Humans , India/epidemiology , Retrospective Studies , Hyperparathyroidism, Primary/epidemiology , Hyperparathyroidism, Primary/diagnosis , Female , Male , Middle Aged , Asymptomatic Diseases , Adult , Aged , Parathyroid Hormone/blood
4.
Cardiovasc Diabetol ; 23(1): 161, 2024 May 07.
Article in English | MEDLINE | ID: mdl-38715070

ABSTRACT

BACKGROUND: The association between the triglyceride-glucose (TyG) index and subclinical left ventricular (LV) systolic dysfunction in obese patients remains unclear. This study aimed to investigate the relationship between the TyG index and LV global longitudinal strain (GLS) in obese patients. METHODS: A total of 1028 obese patients from January 2019 to January 2024 were included in the present study. Clinical parameters and biochemical and echocardiographic data were obtained from the participants. LV GLS was obtained from the GE EchoPAC workstation for evaluating subclinical LV function. The TyG index was calculated as Ln (fasting TG [mg/dL] × fasting glucose [mg/dL]/2). LV GLS was compared between obese patients with a high TyG index and those with a low TyG index. RESULTS: Obese patients with a high TyG index had greater incidences of hypertension, diabetes mellitus and hyperlipidaemia. The LV GLS was significantly lower in the high TyG index group than in the low TyG index group (P = 0.01). After adjusting for sex, age, body mass index, heart rate, hypertension, diabetes mellitus, dyslipidaemia, blood urea nitrogen, serum creatinine, LV mass and LV hypertrophy, the TyG index remained an independent risk indicator related to an LV GLS < 20% (OR: 1.520, 95% CI: 1.040 to 2.221; P = 0.031). CONCLUSIONS: We concluded that an increase in the TyG index is independently associated with subclinical LV systolic dysfunction in obese patients.


Subject(s)
Asymptomatic Diseases , Biomarkers , Blood Glucose , Obesity , Triglycerides , Ventricular Dysfunction, Left , Ventricular Function, Left , Humans , Male , Female , Ventricular Dysfunction, Left/physiopathology , Ventricular Dysfunction, Left/blood , Ventricular Dysfunction, Left/diagnostic imaging , Ventricular Dysfunction, Left/diagnosis , Ventricular Dysfunction, Left/epidemiology , Obesity/diagnosis , Obesity/blood , Obesity/physiopathology , Obesity/epidemiology , Obesity/complications , Middle Aged , Triglycerides/blood , Blood Glucose/metabolism , Biomarkers/blood , Adult , Risk Factors , Risk Assessment , Systole , Aged , Cross-Sectional Studies , Predictive Value of Tests , Retrospective Studies
5.
Eur Respir Rev ; 33(172)2024 Apr 30.
Article in English | MEDLINE | ID: mdl-38719737

ABSTRACT

BACKGROUND: This scoping review aimed to characterise definitions used to describe subclinical tuberculosis (TB), estimate the prevalence in different populations and describe the clinical characteristics and treatment outcomes in the scientific literature. METHODS: A systematic literature search was conducted using PubMed. We included studies published in English between January 1990 and August 2022 that defined "subclinical" or "asymptomatic" pulmonary TB disease, regardless of age, HIV status and comorbidities. We estimated the weighted pooled proportions of subclinical TB using a random-effects model by World Health Organization reported TB incidence, populations and settings. We also pooled the proportion of subclinical TB according to definitions described in published prevalence surveys. RESULTS: We identified 29 prevalence surveys and 71 other studies. Prevalence survey data (2002-2022) using "absence of cough of any duration" criteria reported higher subclinical TB prevalence than those using the stricter "completely asymptomatic" threshold. Prevalence estimates overlap in studies using other symptoms and cough duration. Subclinical TB in studies was commonly defined as asymptomatic TB disease. Higher prevalence was reported in high TB burden areas, community settings and immunocompetent populations. People with subclinical TB showed less extensive radiographic abnormalities, higher treatment success rates and lower mortality, although studies were few. CONCLUSION: A substantial proportion of TB is subclinical. However, prevalence estimates were highly heterogeneous between settings. Most published studies incompletely characterised the phenotype of people with subclinical TB. Standardised definitions and diagnostic criteria are needed to characterise this phenotype. Further research is required to enhance case finding, screening, diagnostics and treatment options for subclinical TB.


Subject(s)
Tuberculosis, Pulmonary , Humans , Prevalence , Tuberculosis, Pulmonary/epidemiology , Tuberculosis, Pulmonary/diagnosis , Tuberculosis, Pulmonary/mortality , Tuberculosis, Pulmonary/drug therapy , Asymptomatic Infections/epidemiology , Asymptomatic Infections/therapy , Cough/epidemiology , Asymptomatic Diseases/epidemiology , Antitubercular Agents/therapeutic use
6.
J Gastrointest Surg ; 28(5): 656-661, 2024 May.
Article in English | MEDLINE | ID: mdl-38704202

ABSTRACT

BACKGROUND: Asymptomatic gallstones are commonly detected using preoperative imaging in patients with colorectal cancer (CRC), but its management remains a topic of debate. METHODS: Clinicopathologic characteristics of patients who had asymptomatic gallstones presenting during the colorectal procedure were retrospectively reviewed. Medical records, including postoperative morbidity, mortality, and long-term gallstone-related diseases, were assessed. RESULTS: Of 134 patients with CRC having asymptomatic gallstones, 89 underwent elective colorectal surgery only (observation group), and 45 underwent elective colorectal surgery with simultaneous cholecystectomy (cholecystectomy group). After propensity score matching (PSM), the complications were similar in the 2 groups. During the follow-up period, biliary complications were noted in 11 patients (12.4%) in the observation group within 2 years after the initial CRC surgery, but no case was found in the cholecystectomy group. After PSM, the incidence of long-term biliary complications remained significantly higher in the observation group than in the cholecystectomy group (26.5% vs 0.0%; P < .01). Multivariable logistic regression analysis identified female gender, old age (≥65 years old), and small multiple gallstones as independent risk factors for the development of long-term gallstone-related diseases in patients from the observation group. CONCLUSION: Simultaneous prophylactic cholecystectomy during prepared, elective CRC surgery did not increase postoperative morbidity or mortality but decreased the risk of subsequent gallstone-related complications. Hence, simultaneous cholecystectomy might be a preferred therapeutic option for patients with CRC having asymptomatic gallstones in cases of elective surgery, especially for older patients (≥65 years old), female patients, and those with small multiple calculi.


Subject(s)
Asymptomatic Diseases , Cholecystectomy , Colorectal Neoplasms , Elective Surgical Procedures , Gallstones , Humans , Female , Male , Gallstones/surgery , Gallstones/complications , Aged , Elective Surgical Procedures/adverse effects , Colorectal Neoplasms/surgery , Retrospective Studies , Middle Aged , Cholecystectomy/adverse effects , Propensity Score , Risk Factors , Age Factors , Aged, 80 and over , Postoperative Complications/epidemiology , Postoperative Complications/etiology , Sex Factors
7.
J Am Heart Assoc ; 13(9): e033474, 2024 May 07.
Article in English | MEDLINE | ID: mdl-38700020

ABSTRACT

BACKGROUND: Copper exposure is reported to be associated with increased risk of stroke. However, the association of copper exposure with subclinical carotid atherosclerosis remains unclear. METHODS AND RESULTS: This observational study included consecutive participants from Xinqiao Hospital between May 2020 and August 2021. Blood metals were measured using inductively coupled plasma mass spectrometry and carotid atherosclerosis was assessed using ultrasound. Modified Poisson regression was performed to evaluate the associations of copper and other metals with subclinical carotid plaque presence. Blood metals were analyzed as categorical according to the quartiles. Multivariable models were adjusted for age, sex, body mass index, education, smoking, drinking, hypertension, diabetes, dyslipidemia, estimated glomerular filtration rate, and coronary artery disease history. Bayesian Kernel Machine Regression was conducted to evaluate the overall association of metal mixture with subclinical carotid plaque presence. One thousand five hundred eighty-five participants were finally enrolled in our study, and carotid plaque was found in 1091 subjects. After adjusting for potential confounders, metal-progressively-adjusted models showed that blood copper was positively associated with subclinical carotid plaque (relative risk according to comparing quartile 4 to quartile 1 was 1.124 [1.021-1.238], relative risk according to per interquartile increment was 1.039 [1.008-1.071]). Blood cadmium and lead were also significantly associated with subclinical carotid plaque. Bayesian Kernel Machine Regression analyses suggested a synergistic effect of copper-cadmium-lead mixture on subclinical carotid plaque presence. CONCLUSIONS: Our findings identify copper as a novel risk factor of subclinical carotid atherosclerosis and show the potential synergistic proatherogenic effect of copper, cadmium, and lead mixture.


Subject(s)
Carotid Artery Diseases , Copper , Humans , Female , Male , Carotid Artery Diseases/blood , Carotid Artery Diseases/diagnostic imaging , Carotid Artery Diseases/epidemiology , Copper/blood , Middle Aged , Risk Factors , Aged , Plaque, Atherosclerotic/blood , Cadmium/blood , Risk Assessment , China/epidemiology , Biomarkers/blood , Asymptomatic Diseases , Lead/blood
9.
Atherosclerosis ; 392: 117522, 2024 May.
Article in English | MEDLINE | ID: mdl-38583288

ABSTRACT

BACKGROUND AND AIMS: South Asian adults (SA) are at higher risk for atherosclerotic cardiovascular disease (ASCVD) compared with other racial/ethnic groups. Life's Simple 7 (LS7) is a guideline-recommended, cardiovascular health (CVH) construct to guide optimization of cardiovascular risk factors. We sought to assess if the LS7 metrics predict coronary artery calcium (CAC) incidence and progression in asymptomatic SA compared with four other racial/ethnic groups. METHODS: We assessed the distribution of CVH metrics (inadequate: score 0-8, average: 9-10, optimal: 11-14, and per 1-unit higher score) and its association with incidence and progression of CAC among South Asians in the Mediators of Atherosclerosis in South Asians Living in America (MASALA) study compared with other race/ethnic groups from the Multiethnic Study of Atherosclerosis (MESA). RESULTS: We included 810 SA, 2622 Non-Hispanic White (NHW), and 4192 Other adults (collectively 1893 Black, 1496 Hispanic and 803 Chinese American participants, respectively). SA and White participants compared to Other race/ethnicity groups were more likely to have optimal CVH metrics (26% SA vs 28% White participants vs 21% Other, respectively, p < 0.001). Similar to NHW and the Other race/ethnic group, SA participants with optimal baseline CVH were less likely to develop incident CAC on follow-up evaluation compared to participants with inadequate CVH metrics, optimal CVH/CAC = 0: 24% SA, 28% NHW, and 15% Other (p < 0.01). In multivariable linear and logistic regression models, there was no difference in annualized CAC incidence or progression between each race/ethnic group (pinteraction = 0.85 and pinteraction = 0.17, respectively). Optimal blood pressure control was associated with lower CAC incidence among SA participants [OR (95% CI): 0.30 (0.14-0.63), p < 0.01] and Other race and ethnicity participants [0.32 (0.19-0.53), p < 0.01]. CONCLUSIONS: Optimal CVH metrics are associated with lower incident CAC and CAC progression among South Asians, similar to other racial groups/ethnicities. These findings underscore the importance of optimizing and maintaining CVH to mitigate the future risk of subclinical atherosclerosis in this higher risk population.


Subject(s)
Asian , Asymptomatic Diseases , Coronary Artery Disease , Disease Progression , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Black or African American , Coronary Artery Disease/ethnology , Coronary Artery Disease/diagnostic imaging , Ethnicity/statistics & numerical data , Health Status , Heart Disease Risk Factors , Hispanic or Latino/statistics & numerical data , Incidence , Prospective Studies , Race Factors , Risk Assessment , Risk Factors , United States/epidemiology , Vascular Calcification/ethnology , Vascular Calcification/diagnostic imaging , White
10.
J Am Heart Assoc ; 13(9): e031107, 2024 May 07.
Article in English | MEDLINE | ID: mdl-38639374

ABSTRACT

BACKGROUND: Subclinical myocardial injury expressed as higher cardiac troponin concentrations may represent an important intermediary between hypertension and the risk of cardiovascular disease. The study aimed to assess the relative strength of associations between systolic blood pressure (BP), diastolic BP, and pulse pressure, and subclinical myocardial injury, and how change in BP variables over time associates with subclinical myocardial injury. METHODS AND RESULTS: cTnl (cardiac troponin I) was measured in 32 968 participants of the fourth wave of the population-based cohort HUNT4 (Trøndelag Health Study) without a history of cardiovascular disease. An additional longitudinal analysis included participants from HUNT4 with BP measurements from HUNT3 (n=18 681). Associations between BP variables and cTnI concentrations were assessed by linear and logistic regression analyses. The median cTnI concentration was 1.6 ng/L (25th-75th percentiles, 0.6-3.1 ng/L), median age was 52 years (39.1-65.6 years), and 57% were female subjects. Cross-sectionally, only systolic BP categories ≥130 mm Hg associated with higher cTnI concentrations, compared with a reference systolic BP of <110 mm Hg. All categories of diastolic BP and pulse pressure were positively associated with higher cTnI concentrations when diastolic BP 70 to 79 mm Hg and pulse pressure <40 mm Hg were used as references, respectively. When comparing systolic BP, diastolic BP, and pulse pressure as continuous variables, cross-sectionally, pulse pressure most strongly associated with cTnI concentrations (P for all comparisons <0.001), whereas longitudinally, change in diastolic BP was most strongly associated with cTnI concentrations (P for all comparisons <0.05). CONCLUSIONS: Subjects with high pulse pressure and longitudinal increase in diastolic BP are at higher risk for subclinical myocardial injury.


Subject(s)
Blood Pressure , Hypertension , Troponin I , Humans , Female , Male , Middle Aged , Blood Pressure/physiology , Aged , Norway/epidemiology , Troponin I/blood , Hypertension/physiopathology , Hypertension/epidemiology , Adult , Biomarkers/blood , Cross-Sectional Studies , Systole , Diastole , Risk Assessment , Risk Factors , Longitudinal Studies , Asymptomatic Diseases
11.
J Am Heart Assoc ; 13(9): e032675, 2024 May 07.
Article in English | MEDLINE | ID: mdl-38686895

ABSTRACT

BACKGROUND: Aortic stenosis (AS) is a representative geriatric disease, and there is an anticipated rise in the number of patients requiring noncardiac surgeries in patients with AS. However, there is still a lack of research on the primary predictors of noncardiac perioperative complications in patients with asymptomatic significant AS. METHODS AND RESULTS: Among the cohort of noncardiac surgeries under general anesthesia, with an intermediate to high risk of surgery from 2011 to 2019, at Samsung Medical Center, 221 patients were identified to have asymptomatic significant AS. First, to examine the impact of significant AS on perioperative adverse events, the occurrences of major adverse cardiovascular events and perioperative adverse cardiovascular events were compared between patients with asymptomatic significant AS and the control group. Second, to identify the factors influencing the perioperative adverse events in patients with asymptomatic significant AS, a least absolute shrinkage and selection operator regression model was used. There was no significant difference between the control group and the asymptomatic significant AS group in the event rate of major adverse cardiovascular events (4.6% at control group versus 5.5% at asymptomatic significant AS group; P=0.608) and perioperative adverse cardiovascular events (13.8% at control group versus 18.3% at asymptomatic significant AS group; P=0.130). Cardiac damage stage was a significant risk factor of major adverse cardiovascular events and perioperative adverse cardiovascular events. CONCLUSIONS: There was no significant difference in major postoperative cardiovascular events between patients with asymptomatic significant AS and the control group. Advanced cardiac damage stage in significant AS is an important factor in perioperative risk of noncardiac surgery.


Subject(s)
Aortic Valve Stenosis , Asymptomatic Diseases , Postoperative Complications , Surgical Procedures, Operative , Humans , Aortic Valve Stenosis/surgery , Aortic Valve Stenosis/epidemiology , Aortic Valve Stenosis/complications , Female , Male , Aged , Retrospective Studies , Postoperative Complications/epidemiology , Postoperative Complications/etiology , Risk Assessment , Risk Factors , Surgical Procedures, Operative/adverse effects , Aged, 80 and over , Time Factors , Middle Aged , Republic of Korea/epidemiology
12.
BMC Urol ; 24(1): 99, 2024 Apr 30.
Article in English | MEDLINE | ID: mdl-38685008

ABSTRACT

OBJECTIVE: To evaluate the efficacy of urethral-sparing laparoscopic simple prostatectomy (US-LSP) for the treatment of large-volume (>80 ml) benign prostatic hyperplasia (BPH) with asymptomatic urethral stricture (urethral lumen > 16 Fr) after urethral stricture surgery. METHODS: We retrospectively analyzed clinical data of 39 large-volume BPH patients with asymptomatic urethral stricture after urethral stricture surgery who underwent US-LSP from January 2016 to October 2021. Postoperative follow-ups were scheduled at 1, 3, and 6 months. RESULTS: All patients affected by significant BPH-related lower urinary tract symptoms (LUTS) including 22 cases with asymptomatic anterior urethral stricture and 17 cases with asymptomatic posterior urethral stricture. Median operative time was 118 min (interquartile range [IQR]100-145). Median estimated blood loss was 224 ml (IQR: 190-255). 33 patients(84.6%) avoided continuous bladder irrigation. Postoperative complications occurred in 5 patients (12.8%), including 4 cases with Clavien-Dindo grade 1 and grade 2 and 1 case with grade 3a. During follow-up, US-LSP presented statistically significant improvements in LUTS compared to baseline (P < 0.05). A total of 25 patients had normal ejaculation preoperatively and 3 patients (12%) complained retrograde ejaculation postoperatively. Two patients (5.1%) reported stress urinary incontinence (SUI) and no patient reported aggravated urethral stricture during follow-up. CONCLUSIONS: US-LSP was safe and effective in treating large-volume BPH with asymptomatic urethral stricture after urethral stricture surgery. Meanwhile, US-LSP could reduce the risk of SUI in patients with asymptomatic posterior urethral stricture and maintain ejaculatory function in a high percentage of patients.


Subject(s)
Laparoscopy , Prostatectomy , Prostatic Hyperplasia , Urethral Stricture , Humans , Male , Prostatic Hyperplasia/surgery , Prostatic Hyperplasia/complications , Retrospective Studies , Urethral Stricture/etiology , Urethral Stricture/surgery , Aged , Prostatectomy/methods , Prostatectomy/adverse effects , Organ Sparing Treatments/methods , Middle Aged , Asymptomatic Diseases , Urethra/surgery , Treatment Outcome , Postoperative Complications/etiology
13.
Mol Genet Genomic Med ; 12(4): e2443, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38634223

ABSTRACT

BACKGROUND: Ornithine transcarbamylase deficiency (OTCD) due to an X-linked OTC mutation, is responsible for moderate to severe hyperammonemia (HA) with substantial morbidity and mortality. About 80% of females with OTCD remain apparently "asymptomatic" with limited studies of their clinical characteristics and long-term health vulnerabilities. Multimodal neuroimaging studies and executive function testing have shown that asymptomatic females exhibit limitations when stressed to perform at higher cognitive load and had reduced activation of the prefrontal cortex. This retrospective study aims to improve understanding of factors that might predict development of defined complications and serious illness in apparent asymptomatic females. A proband and her daughter are presented to highlight the utility of multimodal neuroimaging studies and to underscore that asymptomatic females with OTCD are not always asymptomatic. METHODS: We review data from 302 heterozygote females with OTCD enrolled in the Urea Cycle Disorders Consortium (UCDC) longitudinal natural history database. We apply multiple neuroimaging modalities in the workup of a proband and her daughter. RESULTS: Among the females in the database, 143 were noted as symptomatic at baseline (Sym). We focused on females who were asymptomatic (Asx, n = 111) and those who were asymptomatic initially upon enrollment in study but who later became symptomatic sometime during follow-up (Asx/Sym, n = 22). The majority of Asx (86%) and Asx/Sym (75%) subjects did not restrict protein at baseline, and ~38% of Asx and 33% of Asx/Sym subjects suffered from mild to severe neuropsychiatric conditions such as mood disorder and sleep problems. The risk of mild to severe HA sometime later in life for the Asx and Asx/Sym subjects as a combined group was ~4% (5/133), with ammonia ranging from 77 to 470 µM and at least half (2/4) of subjects requiring hospital admission and nitrogen scavenger therapy. For this combined group, the median age of first HA crisis was 50 years, whereas the median age of first symptom which included neuropsychiatric and/or behavioral symptoms was 17 years. The multimodal neuroimaging studies in female heterozygotes with OTCD also underscore that asymptomatic female heterozygotes with OTCD (e.g., proband) are not always asymptomatic. CONCLUSIONS: Analysis of Asx and Asx/Sym females with OTCD in this study suggests that future evidence-based management guidelines and/or a clinical risk score calculator for this cohort could be useful management tools to reduce morbidity and improve long-term quality of life.


Subject(s)
Ornithine Carbamoyltransferase Deficiency Disease , Adolescent , Female , Humans , Middle Aged , Hyperammonemia/etiology , Longitudinal Studies , Ornithine Carbamoyltransferase Deficiency Disease/diagnosis , Ornithine Carbamoyltransferase Deficiency Disease/genetics , Retrospective Studies , Urea Cycle Disorders, Inborn/epidemiology , Asymptomatic Diseases , Databases, Factual
14.
Atherosclerosis ; 392: 117502, 2024 May.
Article in English | MEDLINE | ID: mdl-38513437

ABSTRACT

BACKGROUND AND AIMS: Premature atherosclerotic cardiovascular disease (CVD) is a clinic characteristic of familial hypercholesterolemia (FH). Coronary calcium score (CCS) is a highly used imaging modality to evidence atherosclerotic plaque burden. microRNAs (miRNAs) are non-coding RNAs that epigenetically regulate gene expression. Here, we investigated whether CCS associates with a specific miRNA-signature in FH-patients. METHODS: Patients with genetic diagnosis of FH (N = 86) from the nationwide SAFEHEART-cohort were investigated by computed tomography angiography imaging and classified depending on the presence of coronary calcification in FH-CCS (+) and FH-CCS (-) groups by the Agatston score. Differential miRNA profiling was performed in two stages: first by Affymetrix microarray technology (high-throughput differential profiling-studies) and second by RT-PCR using TaqMan-technology (analytical RT-qPCR study) in plasma of the two patient groups. RESULTS: miR-193a-5p, miR-30e-5p and miR-6821-5p levels were significantly higher in FH-CCS (+) compared to FH-CCS (-). miR-6821-5p was the best miRNA to discriminate FH-patients CCS(+), according to receiver operating characteristic (ROC) analysis (AUC: 0.70 ± 0.06, p = 0.006). High miR-6821-5p levels were associated with older age (p = 0.03) and high LDL-burden (p = 0.014) using a ROC-derived cut-off value. However, miR-6821-5p did not correlate with age in either the CCS- or CCS + group. Genes involved in calcification processes were identified by in silico analysis. The relation of cell-calcification and expression levels of miR-6821-5p, BMP2 and SPP1 was validated experimentally in human vascular smooth muscle cell cultures. CONCLUSIONS: Up-regulated levels of miR-6821-5p are found in the plasma of asymptomatic FH-patients with coronary calcified atherosclerotic plaques, as well as in isolated human vascular smooth muscle cells expressing the pro-calcification genes BMP2 and SPP1. These findings highlight the impact of epigenetic regulation on the development of subclinical atherosclerosis.


Subject(s)
Coronary Artery Disease , Hyperlipoproteinemia Type II , MicroRNAs , Vascular Calcification , Humans , Hyperlipoproteinemia Type II/blood , Hyperlipoproteinemia Type II/genetics , Hyperlipoproteinemia Type II/complications , Male , Female , Middle Aged , Coronary Artery Disease/blood , Coronary Artery Disease/genetics , Coronary Artery Disease/diagnostic imaging , Vascular Calcification/blood , Vascular Calcification/genetics , Vascular Calcification/diagnostic imaging , MicroRNAs/blood , MicroRNAs/genetics , Adult , Asymptomatic Diseases , Computed Tomography Angiography , Circulating MicroRNA/blood , Circulating MicroRNA/genetics , Coronary Angiography , Cells, Cultured , Plaque, Atherosclerotic/blood , Biomarkers/blood , Gene Expression Profiling , Aged , Myocytes, Smooth Muscle/metabolism , Coronary Vessels/diagnostic imaging , Coronary Vessels/pathology , ROC Curve
15.
Expert Rev Cardiovasc Ther ; 22(4-5): 159-165, 2024.
Article in English | MEDLINE | ID: mdl-38480465

ABSTRACT

INTRODUCTION: Two of the main reasons recent guidelines do not recommend routine population-wide screening programs for asymptomatic carotid artery stenosis (AsxCS) is that screening could lead to an increase of carotid revascularization procedures and that such mass screening programs may not be cost-effective. Nevertheless, selective screening for AsxCS could have several benefits. This article presents the rationale for such a program. AREAS COVERED: The benefits of selective screening for AsxCS include early recognition of AsxCS allowing timely initiation of preventive measures to reduce future myocardial infarction (MI), stroke, cardiac death and cardiovascular (CV) event rates. EXPERT OPINION: Mass screening programs for AsxCS are neither clinically effective nor cost-effective. Nevertheless, targeted screening of populations at high risk for AsxCS provides an opportunity to identify these individuals earlier rather than later and to initiate a number of lifestyle measures, risk factor modifications, and intensive medical therapy in order to prevent future strokes and CV events. For patients at 'higher risk of stroke' on best medical treatment, a prophylactic carotid intervention may be considered.


Subject(s)
Carotid Stenosis , Cost-Benefit Analysis , Mass Screening , Stroke , Humans , Carotid Stenosis/diagnosis , Mass Screening/methods , Stroke/prevention & control , Stroke/etiology , Practice Guidelines as Topic , Risk Factors , Cardiovascular Diseases/prevention & control , Myocardial Infarction/prevention & control , Myocardial Infarction/diagnosis , Asymptomatic Diseases , Life Style
16.
High Blood Press Cardiovasc Prev ; 31(2): 177-187, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38436891

ABSTRACT

INTRODUCTION: Clinical guidelines recommend measurement of arterial (carotid and femoral) plaque burden by vascular ultrasound (VUS) as a risk modifier in individuals at low or moderate risk without known atherosclerotic cardiovascular disease (ASCVD). AIM: To evaluate the prevalence of carotid and femoral plaques by age and sex, the burden of subclinical atherosclerosis (SA), and its association with classic CVRF in subjects over 30 years of age without ASCVD. METHODS: We prospectively enrolled 5775 consecutive subjects referred for cardiovascular evaluation and determined the prevalence and burden of SA using 2D-VUS in carotid and femoral arteries. RESULTS: Sixty-one percent were men with a mean age of 51.3 (SD 10.6) years. Overall, plaque prevalence was 51% in carotid arteries, 39.3% in femoral arteries, 62.4% in carotid or femoral arteries, and 37.6% in neither. The prevalence of plaques and SA burden showed an increasing trend with age, being higher in men than in women and starting before the age of 40, both in the carotid and femoral sites. There was also an increasing prevalence of plaques according to the number of CVRF, and interestingly we found a high prevalence of plaques in subjects with 0 or 1 classic CVRF. CONCLUSIONS: We observed an increased prevalence and burden of carotid or femoral SA, higher in men, beginning before the fourth decade of life and increasing with age. Despite a significant association with classic CVRF, a significant number of subjects with low CVRF were diagnosed with SA.


Subject(s)
Carotid Artery Diseases , Femoral Artery , Hospitals, Community , Peripheral Arterial Disease , Plaque, Atherosclerotic , Humans , Male , Female , Femoral Artery/diagnostic imaging , Prevalence , Middle Aged , Carotid Artery Diseases/epidemiology , Carotid Artery Diseases/diagnostic imaging , Prospective Studies , Adult , Plaque, Atherosclerotic/epidemiology , Peripheral Arterial Disease/epidemiology , Peripheral Arterial Disease/diagnostic imaging , Peripheral Arterial Disease/diagnosis , Risk Assessment , Predictive Value of Tests , Aged , Asymptomatic Diseases , Sex Factors , Age Factors , Risk Factors , Ultrasonography , Age Distribution , Cross-Sectional Studies
17.
N Engl J Med ; 390(11): 984-993, 2024 Mar 14.
Article in English | MEDLINE | ID: mdl-38477986

ABSTRACT

BACKGROUND: A next-generation multitarget stool DNA test, including assessments of DNA molecular markers and hemoglobin level, was developed to improve the performance of colorectal cancer screening, primarily with regard to specificity. METHODS: In a prospective study, we evaluated a next-generation multitarget stool DNA test in asymptomatic adults 40 years of age or older who were undergoing screening colonoscopy. The primary outcomes were sensitivity of the test for colorectal cancer and specificity for advanced neoplasia (colorectal cancer or advanced precancerous lesions). Advanced precancerous lesions included one or more adenomas or sessile serrated lesions measuring at least 1 cm in the longest dimension, lesions with villous histologic features, and high-grade dysplasia. Secondary objectives included the quantification of sensitivity for advanced precancerous lesions and specificity for nonneoplastic findings or negative colonoscopy and comparison of sensitivities for colorectal cancer and advanced precancerous lesions between the multitarget stool DNA test and a commercially available fecal immunochemical test (FIT). RESULTS: Of 20,176 participants, 98 had colorectal cancer, 2144 had advanced precancerous lesions, 6973 had nonadvanced adenomas, and 10,961 had nonneoplastic findings or negative colonoscopy. With the next-generation test, sensitivity for colorectal cancer was 93.9% (95% confidence interval [CI], 87.1 to 97.7), and specificity for advanced neoplasia was 90.6% (95% CI, 90.1 to 91.0). Sensitivity for advanced precancerous lesions was 43.4% (95% CI, 41.3 to 45.6), and specificity for nonneoplastic findings or negative colonoscopy was 92.7% (95% CI, 92.2 to 93.1). With the FIT, sensitivity was 67.3% (95% CI, 57.1 to 76.5) for colorectal cancer and 23.3% (95% CI, 21.5 to 25.2) for advanced precancerous lesions; specificity was 94.8% (95% CI, 94.4 to 95.1) for advanced neoplasia and 95.7% (95% CI, 95.3 to 96.1) for nonneoplastic findings or negative colonoscopy. As compared with FIT, the next-generation test had superior sensitivity for colorectal cancer (P<0.001) and for advanced precancerous lesions (P<0.001) but had lower specificity for advanced neoplasia (P<0.001). No adverse events occurred. CONCLUSIONS: The next-generation multitarget stool DNA test showed higher sensitivity for colorectal cancer and advanced precancerous lesions than FIT but also showed lower specificity. (Funded by Exact Sciences; BLUE-C ClinicalTrials.gov number, NCT04144738.).


Subject(s)
Adenoma , Colorectal Neoplasms , DNA , Early Detection of Cancer , Feces , Immunochemistry , Precancerous Conditions , Adult , Humans , Adenoma/diagnosis , Colorectal Neoplasms/diagnosis , DNA/analysis , Early Detection of Cancer/methods , Feces/chemistry , Precancerous Conditions/diagnosis , Prospective Studies , Asymptomatic Diseases , Colonoscopy , Sensitivity and Specificity , Immunologic Tests/methods , Immunochemistry/methods
18.
Am J Cardiol ; 218: 51-62, 2024 May 01.
Article in English | MEDLINE | ID: mdl-38432341

ABSTRACT

Our understanding of the natural history of aortic stenosis has significantly increased over the last decade. There have been considerable advances in the diagnosis and risk stratification of patients with aortic stenosis and in surgical and anesthetic techniques. In addition, transcatheter aortic valve replacement has established itself as a viable alternative to surgical management. Inevitably, these developments have raised questions regarding the merits of waiting for symptom onset in asymptomatic patients with severe aortic stenosis before offering treatment. Recent observational and randomized trial data suggest that early intervention in asymptomatic patients with severe aortic stenosis and normal left ventricular function may confer a prognostic advantage to a watchful waiting strategy. In this review, we highlight advances in the management and risk stratification of patients with asymptomatic severe aortic stenosis with particular consideration of recent findings supporting early valvular intervention.


Subject(s)
Aortic Valve Stenosis , Heart Valve Prosthesis Implantation , Transcatheter Aortic Valve Replacement , Humans , Heart Valve Prosthesis Implantation/adverse effects , Aortic Valve Stenosis/surgery , Prognosis , Risk Assessment , Aortic Valve/surgery , Asymptomatic Diseases
20.
J Cardiovasc Surg (Torino) ; 65(2): 155-160, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38483792

ABSTRACT

INTRODUCTION: Coronary artery bypass grafting (CABG) is a surgical procedure that restores blood flow to heart muscle by bypassing the blocked or narrowed coronary arteries. On the other hand, subclinical hypothyroidism (SCH) is characterized by an elevated serum concentration of thyroid stimulating hormone with normal levels of serum free thyroxine. With limited research into the impact of SCH on postoperative CABG outcomes, this systematic review and meta-analysis was performed. EVIDENCE ACQUISITION: An electronic search of PubMed, Cochrane Library, and Scopus was performed from inception to April 2023. After the inclusion of five studies, a total of 2,786 patients were pooled in this quantitative synthesis. EVIDENCE SYNTHESIS: It was observed that SCH significantly increased cardiovascular mortality (OR: 2.80; 95% CI: 1.37, 5.72; P=0.005), and all-cause mortality (OR: 2.62; 95% CI: 1.80, 3.80; P<0.00001). However, no significant differences were observed for secondary outcomes, including major adverse cardiac events, incidence of postoperative stroke, and incidence of postoperative myocardial infarction. CONCLUSIONS: To the best of our knowledge, this is the first meta-analysis conducted that evaluates the impact of SCH on outcomes after CABG. The preoperative assessment of thyroid function may be considered prior to cardiovascular procedures, particularly within CABG. However, future comprehensive studies, with individual participant-level data, are necessary in order to arrive at a valid conclusion and recommendation.


Subject(s)
Asymptomatic Diseases , Coronary Artery Bypass , Coronary Artery Disease , Hypothyroidism , Humans , Hypothyroidism/diagnosis , Hypothyroidism/complications , Hypothyroidism/blood , Coronary Artery Bypass/adverse effects , Coronary Artery Bypass/mortality , Coronary Artery Disease/surgery , Coronary Artery Disease/mortality , Risk Assessment , Treatment Outcome , Risk Factors , Postoperative Complications/etiology , Postoperative Complications/mortality , Female , Male , Middle Aged , Aged , Biomarkers/blood
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