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1.
Nagoya J Med Sci ; 86(2): 189-200, 2024 May.
Article de Anglais | MEDLINE | ID: mdl-38962413

RÉSUMÉ

Patients with acute coronary syndrome (ACS), frequently caused by plaque rupture (PR), often have vulnerable plaques in residual lesions as well as in culprit lesions. However, whether this occurs in patients with plaque erosion (PE) as well is unknown. We retrospectively analyzed the data of 88 patients with ACS who underwent both optimal coherence tomography (OCT) and intravascular ultrasound (IVUS). Based on plaque morphology of the culprit lesions identified using OCT, patients were classified into PE (n=23) and PR (n=35) groups. The tissue characteristics of residual lesions evaluated using integrated backscatter IVUS were compared between both groups after percutaneous coronary intervention. The PE group had a significantly lower percent lipid volume and a higher percent fibrous volume than the PR group (35.0±17.8% vs 49.2±13.4%, p<0.001; 63.2±17.1% vs 50.3±13.1%, p=0.002, respectively). Receiver operating characteristic curve analysis revealed that percent lipid volume in the residual lesions was a significant discriminant factor in estimating the plaque morphology of the culprit lesion (optimal cut-off value, <43.5%; sensitivity and specificity values were 73.9% and 68.6%, respectively). In conclusion, patients with PE had a significantly lower percent lipid volume and a significantly higher percent fibrous volume in the residual lesions than those with PR, suggesting that the nature of coronary plaques in patients with PE is different from that of those with PR.


Sujet(s)
Syndrome coronarien aigu , Plaque d'athérosclérose , Tomographie par cohérence optique , Échographie interventionnelle , Humains , Syndrome coronarien aigu/imagerie diagnostique , Syndrome coronarien aigu/anatomopathologie , Études rétrospectives , Mâle , Femelle , Plaque d'athérosclérose/imagerie diagnostique , Plaque d'athérosclérose/anatomopathologie , Adulte d'âge moyen , Sujet âgé , Échographie interventionnelle/méthodes , Tomographie par cohérence optique/méthodes , Intervention coronarienne percutanée , Rupture spontanée , Courbe ROC , Vaisseaux coronaires/imagerie diagnostique , Vaisseaux coronaires/anatomopathologie
2.
Int Heart J ; 65(4): 658-666, 2024.
Article de Anglais | MEDLINE | ID: mdl-39085106

RÉSUMÉ

Angiotensin receptor-neprilysin inhibitors (ARNI) are effective against heart failure (HF) with reduced ejection fraction, but hypotension is a significant complication. Predictors of ARNI-associated hypotension remain unclear. This study aimed to determine predictors of hypotension after administering an ARNI to patients with HF accompanied by ARNI.This retrospective multicenter observational study analyzed data from 138 consecutive patients with HF treated with an ARNI between August 2020 and July 2021. Hypotension attributed to an ARNI after treatment was defined as (A) systolic blood pressure (SBP) below the 1st quartile ≤ 25 mmHg, and as (B) absolute SBP ≤ 103 mmHg. SBP was measured at baseline, after ARNI treatment, at first follow-up as outpatients and on day 7 for inpatients. Presence of atrial fibrillation, and greater BUN/Cr ratio, and SBP at baseline were significant independent predictors for hypotension after ARNI administration on multivariate analyses. Among 43 patients with AF, fine f-waves on electrocardiograms were significantly more prevalent in the hypotensive group.A robust reduction in blood pressure after ARNI administration is associated with AF and elevated BUN/Cr. This highlights the need for caution when administering ARNI to patients with HF.


Sujet(s)
Antagonistes des récepteurs aux angiotensines , Défaillance cardiaque , Hypotension artérielle , Néprilysine , Humains , Défaillance cardiaque/traitement médicamenteux , Hypotension artérielle/induit chimiquement , Mâle , Femelle , Sujet âgé , Études rétrospectives , Antagonistes des récepteurs aux angiotensines/usage thérapeutique , Antagonistes des récepteurs aux angiotensines/effets indésirables , Antagonistes des récepteurs aux angiotensines/administration et posologie , Néprilysine/antagonistes et inhibiteurs , Adulte d'âge moyen , Sujet âgé de 80 ans ou plus , Pression sanguine/effets des médicaments et des substances chimiques , Valsartan
3.
J Hum Genet ; 2024 Jul 16.
Article de Anglais | MEDLINE | ID: mdl-39014191

RÉSUMÉ

Camurati-Engelmann disease (CED) is an autosomal dominant bone dysplasia characterized by progressive hyperostosis of the skull base and diaphyses of the long bones. CED is further divided into two subtypes, CED1 and CED2, according to the presence or absence of TGFB1 mutations, respectively. In this study, we used exome sequencing to investigate the genetic cause of CED2 in three pedigrees and identified two de novo heterozygous mutations in TGFB2 among the three patients. Both mutations were located in the region of the gene encoding the straitjacket subdomain of the latency-associated peptide (LAP) of pro-TGF-ß2. Structural simulations of the mutant LAPs suggested that the mutations could cause significant conformational changes and lead to a reduction in TGF-ß2 inactivation. An activity assay confirmed a significant increase in TGF-ß2/SMAD signaling. In vitro osteogenic differentiation experiment using iPS cells from one of the CED2 patients showed significantly enhanced ossification, suggesting that the pathogenic mechanism of CED2 is increased activation of TGF-ß2 by loss-of-function of the LAP. These results, in combination with the difference in hyperostosis patterns between CED1 and CED2, suggest distinct functions between TGFB1 and TGFB2 in human skeletal development and homeostasis.

4.
Immunol Med ; : 1-3, 2024 Jun 25.
Article de Anglais | MEDLINE | ID: mdl-38916243

RÉSUMÉ

Kabuki syndrome (KS) is a genetic disorder caused by gene mutations in either lysine-specific methyltransferase 2D (KMT2D) or lysine demethylase 6A (KDM6A). This congenital disorder exhibits characteristic facial features, developmental delays in psychomotor skills, and skeletal abnormalities. Moreover, it is classified as a congenital immunodeficient disorder under the category of combined immunodeficiency, leading to hypogammaglobulinemia and the onset of autoimmune diseases. Here, we present the first case of KS complicated by idiopathic pulmonary hemosiderosis (IPH). The KS patient, a 2-year-old Japanese girl with a history of hypoplastic left heart syndrome and recurrent bacterial infection, developed severe respiratory distress and anemia. She had autoimmune hemolytic anemia and gouty nephropathy. Hemophagocytic macrophages with hemosiderin ingestion were identified in bronchoalveolar lavage fluid, excluding differential diagnoses and leading to the diagnosis of idiopathic pulmonary hemosiderosis. Intravenous prednisolone (2 mg/kg/day) was administered, but symptoms did not improve. However, pulmonary hemorrhage disappeared with methylprednisolone pulse therapy. IPH warrants consideration in cases where individuals with KS manifest idiopathic pneumonia and concurrent anemia.

5.
J Cardiovasc Comput Tomogr ; 18(4): 337-344, 2024.
Article de Anglais | MEDLINE | ID: mdl-38789325

RÉSUMÉ

BACKGROUND: Coronary CT angiography (CCTA) is well-established for diagnosis and stratification of coronary artery disease (CAD). Its usefulness in guiding percutaneous coronary interventions (PCI) and stent sizing is unknown. METHODS: This is a sub-analysis of the Precise Percutaneous Coronary Intervention Plan (P3) study (NCT03782688). We analyzed 65 vessels with matched CCTA and pre-PCI optical coherence tomography (OCT) assessment. The CCTA-guided stent size was defined by the mean distal reference lumen diameter rounded up to the nearest stent diameter. The OCT lumen-guided stent size was the mean distal reference lumen diameter rounded to the closest stent diameter. The agreement on stent diameters was determined with Kappa statistics, Passing-Bablok regression analysis, and the Bland-Altman method. RESULTS: The distal reference lumen diameter by CCTA and OCT were 2.75 â€‹± â€‹0.53 â€‹mm and 2.72 â€‹± â€‹0.55 â€‹mm (mean difference 0.06, limits of agreement -0.7 to 0.82). There were no proportional or systematic differences (coefficient A 1.06, 95% CI 0.84 to 1.3 and coefficient B -0.22, 95% CI -0.83 to 0.36) between methods. The agreement between the CCTA and OCT stent size was substantial (Cohen's weighted Kappa 0.74, 95% CI 0.64 to 0.85). Compared to OCT stent diameter, CCTA stent size was concordant in 52.3% of the cases; CCTA overestimated stent size in 20.0% and underestimated in 27.7%. CONCLUSION: CCTA accurately assessed the reference vessel diameter used for stent sizing. CCTA-based stent sizing showed a substantial agreement with OCT. CCTA allows for PCI planning and may aid in selecting stent diameter.


Sujet(s)
Angiographie par tomodensitométrie , Coronarographie , Maladie des artères coronaires , Vaisseaux coronaires , Intervention coronarienne percutanée , Valeur prédictive des tests , Conception de prothèse , Endoprothèses , Tomographie par cohérence optique , Humains , Maladie des artères coronaires/imagerie diagnostique , Maladie des artères coronaires/thérapie , Vaisseaux coronaires/imagerie diagnostique , Intervention coronarienne percutanée/instrumentation , Mâle , Femelle , Reproductibilité des résultats , Adulte d'âge moyen , Sujet âgé
7.
Sci Rep ; 14(1): 7825, 2024 04 03.
Article de Anglais | MEDLINE | ID: mdl-38570621

RÉSUMÉ

Diagnosing cardiac sarcoidosis (CS), especially in isolated cases, is challenging, particularly due to the limitations of endomyocardial biopsy, leading to potential undiagnosed cases in pacemaker-implanted patients. This study aims to provide real world findings to support new guideline for CS using 18F-fluoro-deoxyglucose positron-emission tomography computed tomography (FDG-PET/CT) which give a definite diagnosis of isolated CS (iCS) without histological findings. We examined consecutive patients with cardiac pacemakers for atrioventricular block (AV-b) attending our outpatient pacemaker clinic. The patients underwent periodical follow-up echocardiography and were divided into two groups according to echocardiographic findings: those with suspected CS and those without suspected CS. Patients suspected of having nonischemic cardiomyopathy underwent FDG-PET/CT for CS diagnosis. We investigated the utility of the new guideline for CS using FDG-PET/CT. Among the 272 patients enrolled, 97 patients were implanted with cardiac pacemakers for AV-b. Twenty-two patients were suspected of having CS during a median observation period of 5.4 years after pacemaker implantation. Of these, one did not consent, and nine of 21 cases (43%) were diagnosed with definite CS according to the new guidelines. Five of these nine patients were diagnosed with iCS using FDG-PET/CT. The number of patients diagnosed with definite CS using the new guidelines tended to be approximately 2.3 times that of the conventional criteria (p = 0.074). Three of the nine patients underwent steroid treatment. The composite outcome, comprising all-cause death, heart failure hospitalization, and a substantial reduction in left ventricular ejection fraction, were significantly lower in patients receiving steroid treatment compared to those without steroid treatment (p = 0.048). The utilization of FDG-PET/CT in accordance with the new guidelines facilitates the diagnosis of CS, including iCS, resulting in approximately 2.3 times as many diagnoses of CS compared to the conventional criteria. This guideline has the potential to support the early identification of iCS and may contribute to enhancing patient clinical outcomes.


Sujet(s)
Bloc atrioventriculaire , Cardiomyopathies , Myocardite , Sarcoïdose , Humains , Tomographie par émission de positons couplée à la tomodensitométrie , Fluorodésoxyglucose F18 , Bloc atrioventriculaire/imagerie diagnostique , Bloc atrioventriculaire/thérapie , Débit systolique , Radiopharmaceutiques , Tomographie par émission de positons/méthodes , Fonction ventriculaire gauche , Cardiomyopathies/anatomopathologie , Sarcoïdose/imagerie diagnostique , Sarcoïdose/anatomopathologie , Stéroïdes , Études rétrospectives
8.
Catheter Cardiovasc Interv ; 103(6): 885-896, 2024 May.
Article de Anglais | MEDLINE | ID: mdl-38566527

RÉSUMÉ

BACKGROUND: Two invasive methods are available to estimate microvascular resistance: bolus and continuous thermodilution. Comparative studies have revealed a lack of concordance between measurements of microvascular resistance obtained through these techniques. AIMS: This study aimed to examine the influence of vessel volume on bolus thermodilution measurements. METHODS: We prospectively included patients with angina with non-obstructive coronary arteries (ANOCA) undergoing bolus and continuous thermodilution assessments. All patients underwent coronary CT angiography to extract vessel volume. Coronary microvascular dysfunction was defined as coronary flow reserve (CFR) < 2.0. Measurements of absolute microvascular resistance (in Woods units) and index of microvascular resistance (IMR) were compared before and after volumetric adjustment. RESULTS: Overall, 94 patients with ANOCA were included in this study. The mean age was 64.7 ± 10.8 years, 48% were female, and 19% had diabetes. The prevalence of CMD was 16% based on bolus thermodilution, while continuous thermodilution yielded a prevalence of 27% (Cohen's Kappa 0.44, 95% CI 0.23-0.65). There was no correlation in microvascular resistance between techniques (r = 0.17, 95% CI -0.04 to 0.36, p = 0.104). The adjustment of IMR by vessel volume significantly increased the agreement with absolute microvascular resistance derived from continuous thermodilution (r = 0.48, 95% CI 0.31-0.63, p < 0.001). CONCLUSIONS: In patients with ANOCA, invasive methods based on coronary thermodilution yielded conflicting results for the assessment of CMD. Adjusting IMR with vessel volume improved the agreement with continuous thermodilution for the assessment of microvascular resistance. These findings strongly suggest the importance of considering vessel volume when interpreting bolus thermodilution assessment.


Sujet(s)
Angiographie par tomodensitométrie , Coronarographie , Maladie des artères coronaires , Circulation coronarienne , Vaisseaux coronaires , Microcirculation , Valeur prédictive des tests , Thermodilution , Résistance vasculaire , Humains , Femelle , Mâle , Adulte d'âge moyen , Sujet âgé , Études prospectives , Vaisseaux coronaires/physiopathologie , Vaisseaux coronaires/imagerie diagnostique , Maladie des artères coronaires/physiopathologie , Maladie des artères coronaires/imagerie diagnostique , Reproductibilité des résultats
9.
J Hum Genet ; 69(6): 235-244, 2024 Jun.
Article de Anglais | MEDLINE | ID: mdl-38424183

RÉSUMÉ

Dyssegmental dysplasia (DD) is a severe skeletal dysplasia comprised of two subtypes: lethal Silverman-Handmaker type (DDSH) and nonlethal Rolland-Desbuquois type (DDRD). DDSH is caused by biallelic pathogenic variants in HSPG2 encoding perlecan, whereas the genetic cause of DDRD remains undetermined. Schwartz-Jampel syndrome (SJS) is also caused by biallelic pathogenic variants in HSPG2 and is an allelic disorder of DDSH. In SJS and DDSH, 44 and 8 pathogenic variants have been reported in HSPG2, respectively. Here, we report that five patients with DDRD carried four pathogenic variants in HSPG2: c.9970 G > A (p.G3324R), c.559 C > T (p.R187X), c7006 + 1 G > A, and c.11562 + 2 T > G. Two patients were homozygous for p.G3324R, and three patients were heterozygous for p.G3324R. Haplotype analysis revealed a founder haplotype spanning 85,973 bp shared in the five patients. SJS, DDRD, and DDSH are allelic disorders with pathogenic variants in HSPG2.


Sujet(s)
Haplotypes , Protéoglycanes à sulfate d'héparane , Ostéochondrodysplasies , Femelle , Humains , Mâle , Allèles , Dysplasies osseuses/génétique , Dysplasies osseuses/anatomopathologie , Effet fondateur , Protéoglycanes à sulfate d'héparane/génétique , Mutation , Ostéochondrodysplasies/génétique , Ostéochondrodysplasies/anatomopathologie , Maladies foetales
10.
J Am Heart Assoc ; 13(5): e032605, 2024 Mar 05.
Article de Anglais | MEDLINE | ID: mdl-38390822

RÉSUMÉ

BACKGROUND: Following percutaneous coronary intervention (PCI), optical coherence tomography provides prognosis information. The pullback pressure gradient is a novel index that discriminates focal from diffuse coronary artery disease based on fractional flow reserve pullbacks. We sought to investigate the association between coronary artery disease patterns, defined by coronary physiology, and optical coherence tomography after stent implantation in stable patients undergoing PCI. METHODS AND RESULTS: This multicenter, prospective, single-arm study was conducted in 5 countries (NCT03782688). Subjects underwent motorized fractional flow reserve pullbacks evaluation followed by optical coherence tomography-guided PCI. Post-PCI optical coherence tomography minimum stent area, stent expansion, and the presence of suboptimal findings such as incomplete stent apposition, stent edge dissection, and irregular tissue protrusion were compared between patients with focal versus diffuse disease. Overall, 102 patients (105 vessels) were included. Fractional flow reserve before PCI was 0.65±0.14, pullback pressure gradient was 0.66±0.14, and post-PCI fractional flow reserve was 0.88±0.06. The mean minimum stent area was 5.69±1.99 mm2 and was significantly larger in vessels with focal disease (6.18±2.12 mm2 versus 5.19±1.72 mm2, P=0.01). After PCI, incomplete stent apposition, stent edge dissection, and irregular tissue protrusion were observed in 27.6%, 10.5%, and 51.4% of the cases, respectively. Vessels with focal disease at baseline had a lower prevalence of incomplete stent apposition (11.3% versus 44.2%, P=0.002) and more irregular tissue protrusion (69.8% versus 32.7%, P<0.001). CONCLUSIONS: Baseline coronary pathophysiological patterns are associated with suboptimal imaging findings after PCI. Patients with focal disease had larger minimum stent area and a higher incidence of tissue protrusion, whereas stent malapposition was more frequent in patients with diffuse disease.


Sujet(s)
Maladie des artères coronaires , Fraction du flux de réserve coronaire , Intervention coronarienne percutanée , Humains , Coronarographie/méthodes , Maladie des artères coronaires/imagerie diagnostique , Maladie des artères coronaires/chirurgie , Vaisseaux coronaires/imagerie diagnostique , Fraction du flux de réserve coronaire/physiologie , Intervention coronarienne percutanée/effets indésirables , Intervention coronarienne percutanée/méthodes , Valeur prédictive des tests , Études prospectives , Tomographie par cohérence optique/méthodes , Résultat thérapeutique
11.
J Clin Endocrinol Metab ; 109(3): 641-648, 2024 Feb 20.
Article de Anglais | MEDLINE | ID: mdl-37878959

RÉSUMÉ

CONTEXT: Primary adrenal insufficiency (PAI) is a life-threatening condition characterized by the inability of the adrenal cortex to produce sufficient steroid hormones. E3 ubiquitin protein ligase zinc and ring finger 3 (ZNRF3) is a negative regulator of Wnt/ß-catenin signaling. R-spondin 1 (RSPO1) enhances Wnt/ß-catenin signaling via binding and removal of ZNRF3 from the cell surface. OBJECTIVE: This work aimed to explore a novel genetic form of PAI. METHODS: We analyzed 9 patients with childhood-onset PAI of biochemically and genetically unknown etiology using array comparative genomic hybridization. To examine the functionality of the identified single-exon deletions of ZNRF3 exon 2, we performed three-dimensional (3D) structure modeling and in vitro functional studies. RESULTS: We identified various-sized single-exon deletions encompassing ZNRF3 exon 2 in 3 patients who showed neonatal-onset adrenal hypoplasia with glucocorticoid and mineralocorticoid deficiencies. Reverse-transcriptase polymerase chain reaction (RT-PCR) analysis showed that the 3 distinct single-exon deletions were commonly transcribed into a 126-nucleotide deleted mRNA and translated into 42-amino acid deleted protein (ΔEx2-ZNRF3). Based on 3D structure modeling, we predicted that interaction between ZNRF3 and RSPO1 would be disturbed in ΔEx2-ZNRF3, suggesting loss of RSPO1-dependent activation of Wnt/ß-catenin signaling. Cell-based functional assays with the TCF-LEF reporter showed that RSPO1-dependent activation of Wnt/ß-catenin signaling was attenuated in cells expressing ΔEx2-ZNRF3 as compared with those expressing wild-type ZNRF3. CONCLUSION: We provided genetic evidence linking deletions encompassing ZNRF3 exon 2 and congenital adrenal hypoplasia, which might be related to constitutive inactivation of Wnt/ß-catenin signaling by ΔEx2-ZNRF3.


Sujet(s)
Zinc , bêta-Caténine , Nouveau-né , Humains , Enfant , bêta-Caténine/génétique , bêta-Caténine/métabolisme , Maladie d'Addison familiale/génétique , Hybridation génomique comparative , Ubiquitin-protein ligases/génétique , Voie de signalisation Wnt/génétique , Exons/génétique
12.
Interv Cardiol ; 18: e26, 2023.
Article de Anglais | MEDLINE | ID: mdl-38125928

RÉSUMÉ

The role of coronary CT angiography for the diagnosis and risk stratification of coronary artery disease is well established. However, its potential beyond the diagnostic phase remains to be determined. The current review focuses on the insights that coronary CT angiography can provide when planning and performing percutaneous coronary interventions. We describe a novel approach incorporating anatomical and functional pre-procedural planning enhanced by artificial intelligence, computational physiology and online 3D CT guidance for percutaneous coronary interventions. This strategy allows the individualisation of patient selection, optimisation of the revascularisation strategy and effective use of resources.

13.
Chem Pharm Bull (Tokyo) ; 71(11): 843-845, 2023.
Article de Anglais | MEDLINE | ID: mdl-37914261

RÉSUMÉ

Juglorubin is a natural dye isolated from the culture of Streptomyces sp. 3094, 815, and GW4184. It has been previously synthesized via the biomimetic dimerization of juglomycin C, a plausible genetic precursor. In this study, the derivatives of juglorubin, 1-O-acetyljuglorubin dimethyl ester and juglorubin dimethyl ester, were found to exhibit antiviral activity against hepatitis C virus (HCV) without exerting any remarkable cytotoxicity against host Huh-7 cells. They also inhibited liver X receptor α activation and lipid droplet accumulation in Huh-7 cells. These findings suggest that 1-O-acetyljuglorubin dimethyl ester and juglorubin dimethyl ester targeted the host factors required for HCV production.


Sujet(s)
Hepacivirus , Hépatite C , Humains , Hepacivirus/génétique , Lignée cellulaire , Esters , Réplication virale , Antiviraux/pharmacologie
14.
JACC Cardiovasc Interv ; 16(22): 2767-2777, 2023 Nov 27.
Article de Anglais | MEDLINE | ID: mdl-38030361

RÉSUMÉ

BACKGROUND: Coronary flow reserve (CFR) and microvascular resistance reserve (MRR) can, in principle, be derived by any method assessing coronary flow. OBJECTIVES: The aim of this study was to compare CFR and MRR as derived by continuous (CFRcont and MRRcont) and bolus thermodilution (CFRbolus and MRRbolus). METHODS: A total of 175 patients with chest pain and nonobstructive coronary artery disease were studied. Bolus and continuous thermodilution measurements were performed in the left anterior descending coronary artery. MRR was calculated as the ratio of CFR to fractional flow reserve and corrected for changes in systemic pressure. In 102 patients, bolus and continuous thermodilution measurements were performed in duplicate to assess test-retest reliability. RESULTS: Mean CFRbolus was higher than CFRcont (3.47 ± 1.42 and 2.67 ± 0.81 [P < 0.001], mean difference 0.80, upper limit of agreement 3.92, lower limit of agreement -2.32). Mean MRRbolus was also higher than MRRcont (4.40 ± 1.99 and 3.22 ± 1.02 [P < 0.001], mean difference 1.2, upper limit of agreement 5.08, lower limit of agreement -2.71). The correlation between CFR and MRR values obtained using both methods was significant but weak (CFR, r = 0.28 [95% CI: 0.14-0.41]; MRR, r = 0.26 [95% CI: 0.16-0.39]; P < 0.001 for both). The precision of both CFR and MRR was higher when assessed using continuous thermodilution compared with bolus thermodilution (repeatability coefficients of 0.89 and 2.79 for CFRcont and CFRbolus, respectively, and 1.01 and 3.05 for MRRcont and MRRbolus, respectively). CONCLUSIONS: Compared with bolus thermodilution, continuous thermodilution yields lower values of CFR and MRR accompanied by an almost 3-fold reduction of the variability in the measured results.


Sujet(s)
Circulation coronarienne , Fraction du flux de réserve coronaire , Humains , Thermodilution/méthodes , Reproductibilité des résultats , Résultat thérapeutique , Vaisseaux coronaires , Microcirculation
15.
JACC Cardiovasc Interv ; 16(19): 2396-2408, 2023 10 09.
Article de Anglais | MEDLINE | ID: mdl-37821185

RÉSUMÉ

BACKGROUND: Low fractional flow reserve (FFR) after percutaneous coronary intervention (PCI) has been associated with adverse clinical outcomes. Hitherto, this assessment has been independent of the epicardial vessel interrogated. OBJECTIVES: This study sought to assess the predictive capacity of post-PCI FFR for target vessel failure (TVF) stratified by coronary artery. METHODS: We performed a systematic review and individual patient-level data meta-analysis of randomized clinical trials and observational studies with protocol-recommended post-PCI FFR assessment. The difference in post-PCI FFR between left anterior descending (LAD) and non-LAD arteries was assessed using a random-effect models meta-analysis of mean differences. TVF was defined as a composite of cardiac death, target vessel myocardial infarction, and clinically driven target vessel revascularization. RESULTS: Overall, 3,336 vessels (n = 2,760 patients) with post-PCI FFR measurements were included in 9 studies. The weighted mean post-PCI FFR was 0.89 (95% CI: 0.87-0.90) and differed significantly between coronary vessels (LAD = 0.86; 95% CI: 0.85 to 0.88 vs non-LAD = 0.93; 95% CI: 0.91-0.94; P < 0.001). Post-PCI FFR was an independent predictor of TVF, with its risk increasing by 52% for every reduction of 0.10 FFR units, and this was mainly driven by TVR. The predictive capacity for TVF was poor for LAD arteries (AUC: 0.52; 95% CI: 0.47-0.58) and moderate for non-LAD arteries (AUC: 0.66; 95% CI: 0.59-0.73; LAD vs non-LAD arteries, P = 0.005). CONCLUSIONS: The LAD is associated with a lower post-PCI FFR than non-LAD arteries, emphasizing the importance of interpreting post-PCI FFR on a vessel-specific basis. Although a higher post-PCI FFR was associated with improved prognosis, its predictive capacity for events differs between the LAD and non-LAD arteries, being poor in the LAD and moderate in the non-LAD vessels.


Sujet(s)
Maladie des artères coronaires , Fraction du flux de réserve coronaire , Intervention coronarienne percutanée , Humains , Maladie des artères coronaires/imagerie diagnostique , Maladie des artères coronaires/thérapie , Intervention coronarienne percutanée/effets indésirables , Coronarographie , Résultat thérapeutique , Valeur prédictive des tests
17.
Pediatr Int ; 65(1): e15589, 2023.
Article de Anglais | MEDLINE | ID: mdl-37615376

RÉSUMÉ

BACKGROUND: The RASopathies (Noonan syndrome [NS] and Costello syndrome [CS]) are rare disorders. Although these have been characterized, precise delineation of the differences in the spinal deformities associated with RASopathy has not been described. This study characterized the spinal deformities found in NS and CS and describes a strategy for the screening of scoliosis. METHODS: The clinical records and spinal X-rays of 35 consecutive NS and CS patients were reviewed. Spinal X-rays were assessed to define the presence and progression of scoliosis. Clinical records were examined to identify the risk factors associated with scoliosis. In addition, we investigated the association between clinical records and scoliosis using logistic regression analysis. RESULTS: Twenty-four patients with NS and 11 with CS were included. Nine patients with NS and five with CS showed scoliosis. The mean ± SD age at diagnosis was 12.6 ± 2.4 years in NS and 11.4 ± 2.5 years in CS (p = 0.55), and mean follow-up period was 4.8 ± 2.6 years and 6.3 ± 2.4 years (p = 0.42), respectively. The coronal angular deformity at final follow-up was 27.3 ± 8.5° in NS and 19.4 ± 6.9° in CS (p = 0.030) with a mean annual progression of 2.8 ± 1.1° in NS 1.0 ± 1.0° in CS (p = 0.030). Cardiac disease was present in eight out of nine patients with NS with concomitant scoliosis in NS, and significantly more than in CS (p = 0.007). PTPN11 significantly correlated with scoliosis (odds ratio 12.4 0.035, 95% confidence interval: 1.20-128.00). CONCLUSIONS: Spinal deformity in NS is more severe than in CS. This study identified a relationship between PTPN11 and scoliosis. Therefore, PTPN11 can be used for the screening of scoliosis.


Sujet(s)
Syndrome de Costello , Syndrome de Noonan , Scoliose , Humains , Scoliose/imagerie diagnostique , Scoliose/épidémiologie , Syndrome de Noonan/complications , Syndrome de Noonan/diagnostic , Études rétrospectives
18.
Hum Genet ; 142(10): 1451-1460, 2023 Oct.
Article de Anglais | MEDLINE | ID: mdl-37615740

RÉSUMÉ

Constitutional complex chromosomal rearrangements (CCRs) are rare cytogenetic aberrations arising in the germline via an unknown mechanism. Here we analyzed the breakpoint junctions of microscopically three-way or more complex translocations using comprehensive genomic and epigenomic analyses. All of these translocation junctions showed submicroscopic genomic complexity reminiscent of chromothripsis. The breakpoints were clustered within small genomic domains with junctions showing microhomology or microinsertions. Notably, all of the de novo cases were of paternal origin. The breakpoint distributions corresponded specifically to the ATAC-seq (assay for transposase-accessible chromatin with sequencing) read data peak of mature sperm and not to other chromatin markers or tissues. We propose that DNA breaks in CCRs may develop in an accessible region of densely packaged chromatin during post-meiotic spermiogenesis.


Sujet(s)
ADN , Sperme , Mâle , Humains , Aberrations des chromosomes , Chromatine/génétique , Spermatozoïdes , Translocation génétique
19.
Diagnostics (Basel) ; 13(15)2023 Aug 07.
Article de Anglais | MEDLINE | ID: mdl-37568975

RÉSUMÉ

Assessing coronary physiology after stent implantation facilitates the optimisation of percutaneous coronary intervention (PCI). Coronary artery disease (CAD) patterns can be characterised by the pullback pressure gradient (PPG) index. The impact of focal vs. diffuse disease on physiology-guided incremental optimisation strategy (PIOS) is unknown. This is a sub-study of the TARGET-FFR randomized clinical trial (NCT03259815). The study protocol directed that optimisation be attempted for patients in the PIOS arm when post-PCI FFR was <0.90. Overall, 114 patients (n = 61 PIOS and 53 controls) with both pre-PCI fractional flow reserve (FFR) pullbacks and post-PCI FFR were included. A PPG ≥ 0.74 defined focal CAD. The PPG correlated significantly with post-PCI FFR (r = 0.43; 95% CI 0.26 to 0.57; p-value < 0.001) and normalised delta FFR (r = 0.49; 95% CI 0.34 to 0.62; p-value < 0.001). PIOS was more frequently applied to vessels with diffuse CAD (6% focal vs. 42% diffuse; p-value = 0.006). In patients randomized to PIOS, those with focal disease achieved higher post-PCI FFR than patients with diffuse CAD (0.93 ± 0.05 vs. 0.83 ± 0.07, p < 0.001). There was a significant interaction between CAD patterns and the randomisation arm for post-PCI FFR (p-value for interaction = 0.004). Physiology-guided stent optimisation was applied more frequently to vessels with diffuse disease; however, patients with focal CAD at baseline achieved higher post-PCI FFR.

20.
JACC Cardiovasc Imaging ; 16(11): 1452-1464, 2023 11.
Article de Anglais | MEDLINE | ID: mdl-37480908

RÉSUMÉ

BACKGROUND: The interplay between coronary hemodynamics and plaque characteristics remains poorly understood. OBJECTIVES: The aim of this study was to compare atherosclerotic plaque phenotypes between focal and diffuse coronary artery disease (CAD) defined by coronary hemodynamics. METHODS: This multicenter, prospective, single-arm study was conducted in 5 countries. Patients with functionally significant lesions based on an invasive fractional flow reserve ≤0.80 were included. Plaque analysis was performed by using coronary computed tomography angiography and optical coherence tomography. CAD patterns were assessed using motorized fractional flow reserve pullbacks and quantified by pullback pressure gradient (PPG). Focal and diffuse CAD was defined according to the median PPG value. RESULTS: A total of 117 patients (120 vessels) were included. The median PPG was 0.66 (IQR: 0.54-0.75). According to coronary computed tomography angiography analysis, plaque burden was higher in patients with focal CAD (87% ± 8% focal vs 82% ± 10% diffuse; P = 0.003). Calcifications were significantly more prevalent in patients with diffuse CAD (Agatston score per vessel: 51 [IQR: 11-204] focal vs 158 [IQR: 52-341] diffuse; P = 0.024). According to optical coherence tomography analysis, patients with focal CAD had a significantly higher prevalence of circumferential lipid-rich plaque (37% focal vs 4% diffuse; P = 0.001) and thin-cap fibroatheroma (TCFA) (47% focal vs 10% diffuse; P = 0.002). Focal disease defined by PPG predicted the presence of TCFA with an area under the curve of 0.73 (95% CI: 0.58-0.87). CONCLUSIONS: Atherosclerotic plaque phenotypes associate with intracoronary hemodynamics. Focal CAD had a higher plaque burden and was predominantly lipid-rich with a high prevalence of TCFA, whereas calcifications were more prevalent in diffuse CAD. (Precise Percutaneous Coronary Intervention Plan [P3]; NCT03782688).


Sujet(s)
Maladie des artères coronaires , Fraction du flux de réserve coronaire , Plaque d'athérosclérose , Humains , Maladie des artères coronaires/imagerie diagnostique , Maladie des artères coronaires/anatomopathologie , Études prospectives , Coronarographie/méthodes , Valeur prédictive des tests , Phénotype , Lipides
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