Two New Cases of Bachmann-Bupp Syndrome Identified through the International Center for Polyamine Disorders.

Recent identification of four additional polyaminopathies, including Bachmann-Bupp syndrome, have benefited from previous research on Snyder-Robinson syndrome in order to advance from research to treatment more quickly. As a result of the discovery of these conditions, the potential for treatment within this pathway, and for other possible unidentified polyaminopathies, the International Center for Polyamine Disorders (ICPD) was created to help promote understanding of these conditions, research opportunities, and appropriate care for families. This case study provides insights from two new patients diagnosed with Bachmann-Bupp syndrome, further expanding our understanding of this ultra-rare condition, as well as a general discussion about other known polyaminopathies.

Infant Botulism, Israel, 2007-2021.

Infant botulism (IB) is an intestinal toxemia that manifests as descending paralysis, constipation, and, in some cases, respiratory failure. Laboratory-confirmed IB cases are rare, and recent data in Israel are lacking. We conducted a national multicenter retrospective study of laboratory-confirmed IB cases reported in Israel during 2007-2021.

[FUNCTIONAL ECHO IN PRETERM INFANTS - PAST, PRESENT AND FUTURE].

The use of point of care ultrasound to assess cardiovascular function performed by a neonatologist who is not a cardiologist, is gaining interest in the neonatal intensive care unit (NICU). Clinical signs such as heart rate, blood pressure and capillary refill time provide limited insight into the adequacy of systemic blood flow and organ perfusion. Functional echocardiography (echo) enables real time evaluation of cardiac performance, identifying the nature of cardiovascular compromise, guiding therapeutic decisions and monitoring response to treatment.

Transfemoral Implantation of the Acurate neo for the Treatment of Aortic Regurgitation.

Objectives: We report an international experience of transfemoral transcatheter aortic valve replacement (TAVR) using the self-expanding Acurate neo valve (Boston Scientific) in aortic regurgitation.

Methods: This series comprises 20 patients with pure aortic regurgitation undergoing transfemoral TAVR with the Acurate neo prosthesis at nine centers in Europe and Israel.

Results: Mean age was 79 ± 8 years and mean STS score was 8.

Validation Study of Image-Based Fractional Flow Reserve During Coronary Angiography.

Background: Fractional flow reserve (FFR), an index of the hemodynamic severity of coronary stenoses, is derived from invasive measurements and requires a pressure-monitoring guidewire and hyperemic stimulus. Angiography-derived FFR measurements (FFR) may have several advantages. The aim of this study is to assess the diagnostic performance and interobserver reproducibility of FFR in patients with stable coronary artery disease.

Untreated Mitral Regurgitation Does Not Affect Survival of Elderly Patients Undergoing TAVI.

Background: The study aim was to examine the impact of concomitant significant mitral regurgitation (MR) in patients undergoing transcatheter aortic valve implantation (TAVI). TAVI has become an acceptable mode of treatment for high-surgical risk patients with aortic stenosis (AS) requiring valve replacement. A significant number of patients have concomitant MR which cannot be addressed by TAVI alone, and therefore may not be considered candidates for this procedure.

De novo neonatal antiphospholipid syndrome: a case report and review of the literature.

Objectives: Neonatal antiphospholipid syndrome (APS) is rare and only few cases have been reported, most of them describing trans-placental passage of penetrable maternal antibodies. The current article aims at defining the clinical and biochemical features of the de novo occurrence of neonatal APS and considerations for long-term treatment.

Methods: We present a case and review the medical literature using PubMed.

Incidence and risk factors of cerebrovascular events following cardiac catheterization.

Background: One of the most daunting complications of cardiac catheterization is a cerebrovascular event (CVE). We aimed to assess the real-life incidence, etiology, and risk factors of cardiac catheterization-related acute CVEs in a large cohort of patients treated in a single center.

Methods And Results: We undertook a retrospective analysis of 43,350 coronary procedures performed on 30,907 procedure days over the period 1992-2011 and compared patient and procedural characteristics of procedures complicated by CVEs with the remaining cohort.

Comparison between transcatheter and surgical aortic valve replacement: a single-center experience.

Background And Aim Of The Study: A comparison was made of the outcomes after transcatheter aortic valve implantation (TAVI) and surgical aortic valve replacement (AVR) in high-risk patients.

Methods: All patients aged > 75 years that underwent a procedure for severe aortic stenosis with or without coronary revascularization at the authors' institution were included in the study; thus, 64 patients underwent TAVI and 188 underwent AVR. Patients in the TAVI group were older (mean age 84 +/- 5 versus 80 +/- 4 years; p < 0.

Targeted anti-inflammatory systemic therapy for restenosis: the Biorest Liposomal Alendronate with Stenting sTudy (BLAST)-a double blind, randomized clinical trial.

Background: Activation of systemic innate immunity is critical in the chain of events leading to restenosis. LABR-312 is a novel compound that transiently modulates circulating monocytes, reducing accumulation of these cells at vascular injury sites and around stent struts. The purpose of the study was to examine the safety and efficacy of a single intravenous bolus of LABR-312 in reducing restenosis in patients treated for coronary narrowing.

Multicenter evaluation of Edwards SAPIEN positioning during transcatheter aortic valve implantation with correlates for device movement during final deployment.

Objectives: This study sought to evaluate the exact location of Edwards SAPIEN (Edwards Lifesciences, Irvine, California) devices in different stages of implantation and to quantify possible operator-independent device movement during final deployment.

Background: Accurate device positioning during transcatheter aortic valve implantation is crucial in order to achieve optimal results.

Methods: This multicenter study consisted of 68 procedures with reliable pacemaker capture.

Congenital cytomegalovirus infection and Wiskott-Aldrich syndrome successfully treated with unrelated cord blood transplantation.

We report a successful umbilical cord blood transplantation (UCBT) in an 8-month male with Wiskott-Aldrich syndrome (WAS) and congenital cytomegalovirus (CMV) infection. The child presented at 3 months of age with symptomatic thrombocytopenia and CMV infection. Despite appropriate antiviral treatment no rise in the platelet count was observed.

Buddy balloon for TAVI.

Percutaneous transfemoral aortic valve replacement is a new rapidly evolving technique that has made significant progress in recent years. The technology is however limitted and in some cases has resulted in failure to deliver the prosthetic valve. We describe a new technique using a buddy balloon, from the contralateral femoral artery, to assist in crossing the native aortic valve in those cases where extreme calcification and or tortuosity have caused the delivery system to hang up on the aortic wall.

Safety and efficacy of a novel microneedle device for dose sparing intradermal influenza vaccination in healthy adults.

Background: Intradermal vaccine delivery has been shown to induce good immune responses with low vaccine doses. Technologies for drug-delivery which specifically target the skin may render intradermal vaccination more accessible.

Methods: We conducted a prospective, randomized trial in 180 intended-to-treat healthy adults.

Impact of vessel size, lesion length and diabetes mellitus on angiographic restenosis outcomes: insights from the NIRTOP study.

Background: The primary objective of the current analysis was to define the impact of vessel size, lesion length, and diabetes on clinical and angiographic restenosis following implantation of the NIRFLEX stent.

Methods And Results: Clinical and angiographic restenosis outcomes and multivariate predictors were compared between patients treated in 'small' (<3 mm, n=113 pts/133 lesions) versus 'large' (> or =3 mm, n=41 pts/53 lesions) vessels; between 'tubular' (10-20 mm lesion length n=49 pts/51 lesions) versus 'discrete' (<10 mm lesion length n=103 pts/133 lesions) lesions; and between 'diabetic' (n=30/35 lesions) versus 'non-diabetic' (n=128/156 lesions) patients using the flexible closed-cell design 'bare-metal' NIRFLEX stent in patients with native coronary artery disease. At six month follow-up, target vessel revascularization (TVR) and target lesion revascularization (TLR) rates were significantly less frequent in the 'large' versus 'small' vessel group (2.

Long-term (>3 Years) outcome and predictors of clinical events after insertion of sirolimus-eluting stent in one or more native coronary arteries (from the Israeli arm of the e-Cypher registry).

The aim of this study was to evaluate long-term (3.4 years) outcomes and predictors of clinical events in patients treated with sirolimus-eluting stents in the Israeli arm of the e-Cypher registry. From July 2002 to October 2003, 488 patients from 8 medical centers in Israel were enrolled in the e-Cypher registry.

Antiatherogenicity of extra virgin olive oil and its enrichment with green tea polyphenols in the atherosclerotic apolipoprotein-E-deficient mice: enhanced macrophage cholesterol efflux.

The antiatherogenic properties of extra virgin olive oil (EVOO) enriched with green tea polyphenols (GTPPs; hereafter called EVOO-GTPP), in comparison to EVOO, were studied in the atherosclerotic apolipoprotein-E-deficient (E0) mice. E0 mice (eight mice in each group) consumed EVOO or EVOO-GTPP (7 microl/mouse/day, for 2 months) by gavage feeding. The placebo group received only water.

'Fused-Gold' vs. 'Bare' stainless steel NIRflex stents of the same geometric design in diseased native coronary arteries. Long-term results from the NIR TOP Study.

Objectives: We evaluated the long-term clinical and angiographic results of 'fused-gold' (NIRFlex Royal) and 'bare' (NIRFlex) stainless steel stents in patients undergoing percutaneous coronary intervention (PCI).

Background: Recent studies have shown high clinical and angiographic restenosis rates following the intracoronary implantation of 'gold-coated' stainless steel stents. The new 'fused-gold' stent, with improved surface characteristics and flexibility, was developed to improve procedural and long-term results, while maintaining enhanced radiopacity.

Safety and efficacy of the FilterWire EZ in acute ST-segment elevation myocardial infarction.

Primary percutaneous coronary intervention (PCI) for ST-segment elevation myocardial infarction (STEMI) achieves a high epicardial reperfusion rate; however, it is often suboptimal in achieving myocardial reperfusion due to distal embolization of atherothrombotic particles. The present study assessed whether the capture of embolic particles during PCI would improve myocardial reperfusion outcome. In a multicenter, prospective, randomized, controlled study, 100 patients with STEMI and coronary angiographic evidence of thrombotic occlusion were randomly assigned to PCI using the FilterWire EZ (n=51) or a control group (n=49) using regular guidewires.

Predicting blood pressure improvement in hypertensive patients after renal artery stent placement: renal fractional flow reserve.

Background: Renal stent placement improves or cures hypertension in only 60-70% of patients with renal artery stenosis (RAS) and uncontrolled hypertension. There is a need to better identify patients who are likely to respond to percutaneous renal revascularization. We investigated whether an abnormal renal fractional flow reserve (FFR) would predict blood pressure improvement in patients undergoing renal artery stent placement.

FX MiniRAIL catheter usage for treatment of de novo complex coronary lesions: results from the "OFFAR".

Introduction: Gradual prolonged balloon angioplasty may cause less arterial trauma, higher success rates, and fewer complications than conventional angioplasty (POBA). The OFFAR aimed to determine the safety and effectiveness of the FX MiniRAIL (FX) catheter, used with a slow, stepwise inflation protocol.

Methods And Results: From June to December 2003, 181 consecutive patients (age 61.