The state of leukocyte adhesiveness/aggregation in the peripheral blood of patients with type 2 diabetes and ischemic vascular disease

White blood cells have a potential role in the pathogenesis of vasculopathy in diabetic patients. We studied the circulating peripheral blod in a cohort of patients with documented ischemic heart or brain disease with and without type 2 diabetes by means of image analysis and flow cytometry. Our study showed that the state of leukocyte adhesiveness/aggregation is slightly increased in those who had concomitant diabetes but that there was no difference regarding the expression of CD11b/CD18 and CD62L antigens on the surface of the peripheral blood white blood cells. The finding of a significantly increased number of white blood cells in the peripheral blood of patients with ischemic vascular diseases is important insofar as it is associated with a poorer prognosis. Received: 21 May 2000 / Accepted in revised form: 28 March 2001     

Wiedemann‐Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases

Wiedemann‐Steiner syndrome (WSS) is a rare syndromic condition in which intellectual disability (ID) is associated with hypertrichosis cubiti, short stature, and characteristic facies. Following the identification of the causative gene (KMT2A) in 2012, only 31 cases of WSS have been described precisely in the literature. We report on 33 French individuals with a KMT2A mutation confirmed by targeted gene sequencing, high‐throughput sequencing or exome sequencing. Patients' molecular and clinical features were recorded and compared with the literature data. On the molecular level, we found 29 novel mutations. We observed autosomal dominant transmission of WSS in 3 families and mosaicism in one family. Clinically, we observed a broad phenotypic spectrum with regard to ID (mild to severe), the facies (typical or not of WSS) and associated malformations (bone, cerebral, renal, cardiac and ophthalmological anomalies). Hypertrichosis cubiti that was supposed to be pathognomonic in the literature was found only in 61% of our cases. This is the largest series of WSS cases yet described to date. A majority of patients exhibited suggestive features, but others were less characteristic, only identified by molecular diagnosis. The prevalence of WSS was higher than expected in patients with ID, suggesting than KMT2A is a major gene in ID.     

COVID-19 and Renal Failure — Adding Insult to Injury? Israel’s Experience Based on Nationwide Retrospective Cohort Study

IntroductionRenal failure (RF) is a risk factor for mortality among hospitalized patients. However, its role in COVID-19-related morbidity and mortality is inconclusive. The aim of the study was to determine whether RF is a significant predictor of clinical outcomes in COVID-19 hospitalized patients based on a retrospective, nationwide, cohort study.MethodsThe study sample consisted of patients hospitalized in Israel for COVID-19 in two periods. A random sample of these admissions was selected, and experienced nurses extracted the data from the electronic files. The group with RF on admission was compared to the group of patients without RF. The association of RF with 30-day mortality was investigated using a logistic regression model.ResultsDuring the two periods, 19,308 and 2994 patients were admitted, from which a random sample of 4688 patients was extracted. The 30-day mortality rate for patients with RF was 30% (95% confidence interval (CI): 27–33%) compared to 8% (95% CI: 7–9%) among patients without RF. The estimated OR for 30-day mortality among RF versus other patients was 4.3 (95% CI: 3.7–5.1) and after adjustment for confounders was 2.2 (95% CI: 1.8–2.6). Furthermore, RF patients received treatment by vasopressors and invasive mechanical ventilation (IMV) more frequently than those without RF (vasopressors: 17% versus 6%, OR = 2.8, p<0.0001; IMV: 17% versus 7%, OR = 2.6, p<0.0001).DiscussionRF is an independent risk factor for mortality, IMV, and the need for vasopressors among patients hospitalized for COVID-19 infection. Therefore, this condition requires special attention when considering preventive tools, monitoring, and treatment.KEY WORDS: COVID-19, renal failure, mortality, invasive mechanical ventilation, vasopressors, risk factor     

Sinus node and atrioventricular nodal function in 220 patients recovering from acute myocardial infarction

Sinus node and atriventricular (A-V) nodal functions were evaluated by right atrial pacing in 220 consecutive patients recovering from acute myocardial infarction (AMI), 10-28 days after the infarct (mean = 14 days). In the 188 patients in whom a pacing rate of 120 beats/min could be achieved, sinus node recovery time, corrected sinus node recovery time (CSNRT) and total recovery time were correlated to infarct site and the presence or absence of myocardial ischemia. Sinus node recovery time and total recovery time were significantly longer in patients with inferior (1,153 + 28 and 3,129 + 179 ms, respectively) or non-Q-wave infarct (1,112 + 28 and 3,730 + 266 ms, respectively), than in patients with anterior infarct (1,044 + 20 and 1,153 + 28 ms, respectively). The parameters were within the reported normal range. When corrected for heart rate (CSNRT), these differences were no longer present. The presence or site of residual ischemia during right atrial pacing did not affect the sinus nodes parameters. A-V nodal function, studied in all 220 patients, was assessed by the appearance of second-degree A-V block at pacing rates below 120 beats/min and by measuring the shortest atrially paced cycle length with 1:1 A-V conduction. Second-degree A-V block appeared at a similar frequency in different AMI locations. Thus, sinus and A-V node functional status in patients recovering from AMI are not affected by infarct site or by the presence or absence of residual myocardial ischemia.     

Use of streptokinase for lysis of a mobile left ventricular thrombus--report of a case and review of the literature

One-third of patients with acute anterior wall infarction develop left ventricular apical thrombi. Mobile thrombi carry the highest risk of systemic embolization, particularly in the early phase after the acute infarction. We report here on a young patient in whom a protruding and mobile left ventricular thrombus was detected on two-dimensional echocardiogram 1 week after an acute antero-septal infarction. Intravenous administration of relatively low doses of streptokinase was followed within 14 h by complication-free resolution and disappearance of the thrombus.     

Importance of (perimembranous) ventricular septal aneurysm in the natural history of isolated perimembranous ventricular septal defect

Records were reviewed of 247 patients found to have isolated perimembranous ventricular septal defect (VSD) on cross-sectional echocardiography. Patients were separated into 2 groups: those in whom a perimembranous ventricular septal aneurysm (VSA) was associated with the VSD (group A, 77% of patients) and those in whom a VSA was not present (group B, 23%). The VSD was assessed by clinical (125 in group A, 24 in group B) and hemodynamic criteria (65 in group A, 33 in group B). The median follow-up period was 27 months (range 3 months to 25 years). In group A, the VSD closed spontaneously in 11% of the patients, improved clinically in 33% and required surgical closure in 11%. In group B, the VSD closed spontaneously in only 2%, improved clinically in 16% and required surgical closure in 47%. When considering larger VSDs only, 28% required surgery in group A, whereas 84% required surgery in group B (p less than 0.001). The VSA was found at the first echocardiographic examination in 94% of the studies. Thus, VSA is found in a large proportion of patients with perimembranous VSD. It occurs as an early phenomenon and is an important mechanism of closure. The presence of a VSA appears to confer a more favorable prognosis in perimembranous VSD except in patients with Down's syndrome.     

Atherosclerotic saphenous vein grafts treated with different interventional procedures assessed by intravascular ultrasound.

Intravascular ultrasound imaging of saphenous vein grafts may enhance the angiographic interpretation of results following transcatheter interventions. We used intravascular ultrasound to study 18 patients with stenotic vein grafts following balloon angioplasty, atherectomy, or stent placement. In real-time imaging the three-layer appearance was rarely seen, calcification was infrequent (11% of patients), and atheroma were usually mildly echogenic ("soft"). Despite excellent angiographic results (reduction in percent diameter stenosis from 90 +/- 8% to 17 +/- 8%) and concordant improvement in lumen area by ultrasound regardless of the intervention, there was usually significant retained atheroma at the treatment site. Following balloon angioplasty, ultrasound showed multiple superficial fissures and fractures without discrete dissections. Atherectomy caused a smooth lumen surface without deep dissections or resections, but significant retained atheroma was observed with each one of the atherectomy procedures. Endovascular stents were concentric in the vein with reflective struts above compressed atheroma and an outer echogenic adventitia. Stent expansion was asymmetric axially and longitudinally and evidence of stent recoil was present. Thus intravascular ultrasound may be an important adjunct to angiography in characterizing postintervention results in saphenous vein grafts.