Type 3  Gaucher disease, also an adult disease?

CONCLUSION: This mutation results in calcified heart valves, corneal opacities, alteration of oculomotricity and hydrocephalus. The mild manifestation at onset and the late neurological involvement in the medical history make the diagnosis more difficult. This particular clinical phenotype deserves to be known in adult medicine departments. PMID: 29610006 [PubMed - as supplied by publisher]
Source: Revue de Medecine Interne - Category: Internal Medicine Tags: Rev Med Interne Source Type: research

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The objective of this report was to present our experience with transcatheter aortic valve replacement (TAVR) and endovascular aneurysm repair (EVAR) performed simultaneously in patients with severe aortic stenosis and abdominal aortic aneurysm meeting criteria for repair.
Source: Journal of Vascular Surgery - Category: Surgery Authors: Source Type: research
Cardiac valve operations in patients who had undergone solid organ (kidney, liver, pancreas, heart and lung) transplantation pose unique challenges, due to the patient comorbidities and to the need for immunosuppressive therapy. Aim of this retrospective study was to present our experience with solid-organ transplanted patients who had undergone cardiac valve operation at the time or after transplantation.
Source: The Journal of Thoracic and Cardiovascular Surgery - Category: Cardiovascular & Thoracic Surgery Authors: Source Type: research
When the Valsalva graft (Terumo Aortic, Renfrewshire, United Kingdom) was first conceived and designed more than 20  years ago, the goal was to find a method to easily recreate neosinuses of Valsalva after a valve-sparing root reimplantation procedure. However, given the simple design and intrinsic characteristics of this novel solution, it was also advantageous to use when performing remodeling or Bentall proce dures. In fact, in the very first article on this novel Dacron (DuPont, Wilmington, De) aortic graft, the initial clinical results in all 3 types of aortic root surgery were presented.
Source: The Journal of Thoracic and Cardiovascular Surgery - Category: Cardiovascular & Thoracic Surgery Authors: Tags: Expert Opinion Source Type: research
Authors: Disha K, Schulz S, Breuer M, Owais T, Girdauskas E, Kuntze T Abstract Concomitant Loeys-Dietz syndrome (LDS) and hematologic malignancies are exceptionally rare. This is the first report of a patient operated on for aortic root dilation who had been previously diagnosed with LDS and B-cell-lymphoma. After completion of chemotherapy and complete remission, an elective valve-sparing aortic root replacement (using the David-V method) was performed. Due to the positive family history, pre-operative genetic counseling was conducted, and revealed LDS with a TGFBR1 (transforming growth factor beta receptor type I...
Source: Korean Journal of Thoracic and Cardiovascular Surgery - Category: Cardiovascular & Thoracic Surgery Tags: Korean J Thorac Cardiovasc Surg Source Type: research
We present a rare case of severe aortic stenosis with a unicommissural unicuspid aortic valve diagnosed by preoperative transesophageal echocardiography in a 36-year-old man. After composite graft replacement of the aortic valve, aortic root, and ascending aorta, a permanent pacemaker was placed because of postoperative complete heart block. PMID: 31624715 [PubMed]
Source: Korean Journal of Thoracic and Cardiovascular Surgery - Category: Cardiovascular & Thoracic Surgery Tags: Korean J Thorac Cardiovasc Surg Source Type: research
AbstractBoth transcatheter aortic valve implantation (TAVI) and surgical aortic valve replacement (SAVR) have been proven to effectively correct von Willebrand Factor (vWF) pathologies, however there is limited data simultaneously comparing outcomes of both approaches. We prospectively enrolled patients with severe aortic stenosis referred for TAVI (n  = 52) or SAVR (n = 48). In each case, vWF antigen (vWF:Ag), vWF activity (vWF:Ac) and activity-to-antigen (vWF:Ac/Ag) ratio were assessed at baseline, 24 h and 72 h after procedure. VWF abnormalities were defined as reduced vWF:Ac/Ag ratio (
Source: Journal of Thrombosis and Thrombolysis - Category: Hematology Source Type: research
AbstractVery limited but promising experiences with the use of direct factor Xa inhibitors for the treatment of heparin-induced thrombocytopenia (HIT) have been reported. This contribution features our first experience with the use of apixaban (without a pre-treatment with parenteral anticoagulant) to treat a case of HIT which developed in a patient after multiple heart replacement surgery. Apixaban was effective, well tolerated and safe. An apixaban-calibrated chromogenic anti-Xa activity assessment was used to monitor apixaban activity throughout the therapy. Patient continued on apixaban for the prevention of thrombosis...
Source: Journal of Thrombosis and Thrombolysis - Category: Hematology Source Type: research
Publication date: Available online 18 October 2019Source: Stem Cell ResearchAuthor(s): Ana Joana Duarte, Diogo Ribeiroa, Renato Santos, Luciana Moreira, José Bragança, Olga AmaralAbstractGaucher Disease (GD) type 3 is a neurological form of a multisystemic autosomal recessive disorder belonging to the group of lysosomal storage diseases. Mutations in glucocerebrosidase 1 (GBA1) commonly lead to abnormal protein and GD, heterozygosity is a genetic risk factor for Parkinson's disease. This work describes the use of a non-integrative approach using Sendai Virus delivery to establish iPSCs from fibroblasts from a...
Source: Stem Cell Research - Category: Stem Cells Source Type: research
This study consisted of 29 patients with idiopathic normal pressure hydrocephalus (iNPH) who underwent lumbosubarachnoid-lumboepidural (L-L) shunting under local anesthesia in accordance with our surgical indications of L-L shunting. (1) CSF absorption within the lumbar epidural space and shunt clearance were confirmed in all patients after operation. (2) Shunt responders (R) were 25 of 29 cases (86.2%) 3 months after surgery. Among the R, symptom exacerbation was confirmed in three patients (12%) within the follow-up period (mean, 25.1 months). In each of these patients, shunt function were maintained and remained unchang...
Source: Neurologia Medico-Chirurgica - Category: Neurosurgery Tags: Neurol Med Chir (Tokyo) Source Type: research
AbstractPurpose of reviewThe use of cardiac CT is well established in the TAVR sphere and gaining traction as an integral part of pre-procedural planning for left 13 atrial appendage closure (LAAC) and transcatheter mitral valve replacement (TMVR. We aim to review the recent evidence regarding the accuracy of cardiac CT for left atrial sizing and device selection and discuss the contribution of cardiac CT to decreasing complication rates in real-world experience as compared with clinical trials.Recent findingsPre-procedural CT imaging has evolved to become an integral part of LAA closure and TMVR. For LAA closure, CT imagi...
Source: Current Cardiovascular Imaging Reports - Category: Radiology Source Type: research
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