Coronary arteriopathy in a patient with Noonan phenotype: Case report.

Noonan syndrome (NS) is a pleomorphic genetic disorder. Up to 50-80% of individuals have associated congenital heart disease. The scope of cardiac disease in NS is quite variable depending on the gene mutation. The most common forms of cardiac defects include pulmonary stenosis, hypertrophic cardiomyopathy (HCM), atrial septal defect and left-sided lesions. Amongst the rare vascular abnormalities few case reports have been mentioned about coronary artery lesions apart from sinus of Valsalva aneurysm, aortic dissection, intracranial aneurysm. This is a case report a rare case of asymptomatic coronary artery aneurysm in a young male with NS. There is lack of unified protocol for the screening, diagnosis, treatment, and follow-up of coronary artery disease in patients with NS. We conclude, echocardiography is sufficient in most cases in children. But a CT scan is appropriate in adults or when other lesions are suspected.

Crossed cerebellar Diaschisis in mesial temporal sclerosis: a rare clinical entity.

Crossed cerebellar diaschisis (CCD) is a phenomenon of functional diaschisis that occurs after damage to the cerebral hemisphere and results in decreased activity of the cerebellum outside the primary focus. In this case report, we present the case of a patient admitted for seizures who was diagnosed with CCD due to Mesial temporal sclerosis (MTS). This event is generally observed in ischemic stroke cases and can occur epileptic seizure disorders. However, association of CCD with MTS is very rare. This article provides a comprehensive overview of CCD and related MRI findings to better understand their pathophysiology, clinical implications, and potential therapeutic approaches. The article highlights the importance of MRI in CCD detection and monitoring and discusses its usefulness in different clinical scenarios.

Role of Angiotensin-Converting Enzyme (ACE) gene polymorphism and ACE activity in predicting outcome after acute myocardial infarction.

BACKGROUND: The Ace polymorphism had shown association with ACE activity, premature atherosclerosis, myocardial infarction, LV dysfunction, LV remodelling, severity and extent of CAD and mortality after MI. Though ACE I/D polymorphism has been reported to be associated with various cardiovascular diseases it remained a controversial risk factor and studies have presented conflicting results. This study was designed to determine the association between ACE) gene insertion/deletion (I/D) polymorphism, ACE activity and acute STEMI in Indian population and to determine its influence on outcome after acute MI. MATERIALS AND METHODS: We investigated 934 patients diagnosed with acute STEMI who underwent thrombolysis. ACE I/D polymorphism was detected by polymerase chain reaction and ACE activity was measured in 615 patients. RESULTS: The prevalence of DD, ID, and II genotypes in our study group were 41.97%, 34.36%, and 23.66% respectively. The ACE polymorphism was not significantly associated with the type of myocardial infarction, the LV ejection fraction, the number of vessels diseased and patency of the vessel after thrombolysis. The polymorphism had no influence on in hospital mortality (P = 0.453). The ACE activity also showed no influence on in hospital mortality (P = 0.482). The age > 60 years, Male gender, occluded artery and severe LV dysfunction (LVEF < 35%) were predictors of in-hospital mortality on multivariate regression analysis. CONCLUSION: There was no differences among ACE (I/D) polymorphism observed in STEMI population. Neither ACE I/D polymorphism nor ACE activity predicted in-hospital mortality inpatients admitted with acute STEMI.

Association of In-Hospital Surgical Bleeding Events with Prolonged Hospital Length of Stay, Days Spent in Critical Care, Complications, and Mortality: A Retrospective Cohort Study Among Patients Undergoing Neoplasm-Directed Surgeries in English Hospitals.

PURPOSE: To evaluate the association of in-hospital surgical bleeding events with the outcomes of hospital length of stay (LOS), days spent in critical care, complications, and mortality among patients undergoing neoplasm-directed surgeries in English hospitals. PATIENTS AND METHODS: This is a retrospective cohort study using English hospital discharge data (Hospital Episode Statistics [HES]) linked to electronic health records (Clinical Practice Research Datalink [CPRD]). HES includes information on patient demographics, admission and discharge dates, diagnoses and procedures, days spent in critical care, and discharge status. CPRD includes information on patient demographics, diagnoses and symptoms, drug exposures, vaccination history, and laboratory tests. Patients aged ≥18 years who underwent selected neoplasm-directed surgeries between 1-Jan-2010 and 29-February-2016: hysterectomy, low anterior resection (LAR), lung resection, mastectomy, and prostate surgery were included. The primary independent variable was in-hospital surgical bleeding events identified by diagnosis of haemorrhage and haematoma complicating a procedure or reopening/re-exploration and surgical arrest of postoperative bleeding. Outcomes included LOS, days spent in critical care, in-hospital complications (diagnoses of infections, acute renal failure, vascular events), and in-hospital mortality, identified during surgery through discharge. Multivariable regression was used to examine the adjusted association of bleeding events with outcomes. RESULTS: The study included 26,437 neoplasm-directed surgeries (hysterectomy=6092; LAR=2957; lung=1538; mastectomy=12,806; prostate=3044). Incidence proportions of bleeding events were: hysterectomy=1.9% (95% confidence interval=1.1-2.5%); LAR=3.0% (CI=2.3-3.6%); lung=1.8% (CI=1.1-2.5%); mastectomy=1.6% (CI=1.3-1.8%); prostate=1.0% (CI=0.6-1.3%). In adjusted analyses, bleeding events were associated with: prolonged LOS: 3.1 (CI=1.1-6.3) mastectomy to 5.7 (CI=3.6-8.2) LAR days longer; more days spent in critical care: 0.4 (CI=0.03-0.27) mastectomy to 6.5 (CI=2.5-13.6) hysterectomy days more; and higher incidence proportions of all examined complications; all P<0.05. CONCLUSION: This study quantifies a substantial clinical and healthcare resource utilization burden associated with surgical bleeding among patients undergoing neoplasm-directed surgery in England hospitals.

Barbed and conventional sutures in spinal surgery patients: an economic and clinical outcomes comparison.

OBJECTIVE: To compare economic and clinical outcomes of barbed sutures versus conventional sutures alone in wound closure for patients undergoing spinal surgery. METHOD: A retrospective study using the Premier Healthcare Database. The database was searched for patients who underwent elective inpatient spinal surgery (fusion or laminectomy) for a spinal disorder between 1 January 2014 and 30 June 2018 (first=index admission). Using billing records for medical supplies used during the index admission, patients were classified into mutually-exclusive groups: patients with any use of STRATAFIX (Ethicon, US) knotless tissue control devices (barbed sutures group); or patients with use of conventional sutures alone (conventional sutures group). Outcomes included the index admission's length of stay, total and subcategories of hospital costs, non-home discharge, operating room time (ORT, minutes), wound complications and readmissions within ≤90 days. Propensity score matching and generalised estimating equations were used to compare outcomes between the study groups. RESULTS: After matching, 3705 patients were allocated to each group (mean age=61.5 years [standard deviation, SD±12.9]; 54% were females). Compared with the conventional suture group, the barbed suture group had significantly lower mean ORT (239±117 minutes, versus 263±79 minutes conventional sutures, p=0.015). Operating room costs were also siginificantly lower in the barbed suture group ($6673±$3976 versus $7100±$2700 conventional sutures, p=0.020). Differences were statistically insignificant for other outcomes (all p>0.05). Subanalysis of patients undergoing fusions of ≥2 vertebral joints yielded consistent results. CONCLUSION: In this study, wound closure incorporating barbed sutures was associated with lower ORT and operating room costs, with no significant difference in wound complications or readmissions, when compared with conventional sutures alone.

Prosthetic valve thrombosis - association of genetic polymorphisms of VKORC1, CYP2C9 and CYP4F2 genes.

Prosthetic Valve Thrombosis (PVT), in spite of the advances in the valve design and the material used, remains a serious complication of mechanical cardiac valve replacement. The factors influencing the development of PVT are: thrombogenicity of the valve, hemodynamics of the transprosthetic blood flow and ineffective anticoagulation. Genetic polymorphism of the genes VKORC1 (-1639 G > A and 1173 C > T), CYP2C9 (*2 & *3 alleles) and CYP4F2 (1347 G > A) are known to influence the anticoagulant dose-effect response. Since there has not been any earlier study on the direct influence of gene polymorphism on the development of PVT, we investigated into this association.Genotyping for the genes VKORC1, CYP2C9 and CYP4F2 was carried out by conventional PCR-RFLP method for 91 consecutive PVT patients. Subjects of our earlier study served as controls (n = 136).Female patients and patients with smaller prosthetic valve size were more prone to developing PVT (68%, n = 62). Patients bearing A allele of CYP4F2 1347 G > A polymorphism exhibited a fivefold increased risk of PVT (OR = 5.022 (1.39-18.04), P = .013). G allele of VKORC1 when analyzed in combination of genotypes showed a fourteen fold increased risk for developing PVT (OR = 14.25 (5.52-36.77), P = 0.001). CYP2C9 (*2&*3) gene polymorphism did not show any significant association with PVT (OR = 1.54 (0.128 - 18.82), P = .731).Patients bearing A allele of CYP4F2 showed an increased risk of developing PVT in our case - control study.