Search results for "INTRAC"

Virtual reality system for planning minimally invasive neurosurgery

2008

Object The authors report on their experience with a 3D virtual reality system for planning minimally invasive neurosurgical procedures. Methods Between October 2002 and April 2006, the authors used the Dextroscope (Volume Interactions, Ltd.) to plan neurosurgical procedures in 106 patients, including 100 with intracranial and 6 with spinal lesions. The planning was performed 1 to 3 days preoperatively, and in 12 cases, 3D prints of the planning procedure were taken into the operating room. A questionnaire was completed by the neurosurgeon after the planning procedure. Results After a short period of acclimatization, the system proved easy to operate and is currently used routinely for pre…

Congenital primary hypothyroidism with subsequent adenomatous goiter in a Turkish patient caused by a homozygous 10-bp deletion in the thyroid peroxi…

2006

Summary Objective  Congenital primary hypothyroidism occurs in 1 of 4000 births. Whereas the majority of the cases are due to developmental defects of the thyroid gland, 20% carry a defect in thyroid hormonogenesis. We report a Turkish boy who had goitrous hypothyroidism due to a mutation in the thyroid peroxidase (TPO) gene. Design  The TPO gene was sequenced directly from genomic DNA and cDNA which was transcribed from three RNA samples harvested from different parts of the patient's excised thyroid gland. Patient  The boy was thyroidectomized because of continuing growth of his thyroid gland and development of multiple nodes suspected of malignancy by ultrasound examination. Histopatholo…

Adhesion Molecules in Kidney Diseases

2010

TCTN3 Mutations Cause Mohr-Majewski Syndrome

2012

Orofaciodigital syndromes (OFDSs) consist of a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities that lead to the delineation of 13 OFDS subtypes. Here, by a combined approach of homozygozity mapping and exome ciliary sequencing, we identified truncating TCTN3 mutations as the cause of an extreme form of OFD associated with bone dysplasia, tibial defect, cystic kidneys, and brain anomalies (OFD IV, Mohr-Majewski syndrome). Analysis of 184 individuals with various ciliopathies (OFD, Meckel, Joubert, and short rib polydactyly syndromes) led us to identify four additional truncating TCTN3 mutations in un…

Aneurysm clipping following endovascular coil embolization: A report of two cases

2009

Abstract BACKGROUND: Treatment of intracranial aneurysms by Guglielmi detachable coil (GDC) embolization is a useful therapeutic alternative to surgery. This procedure is attractive as a minimally invasive approach to treat cerebral aneurysms; however, is not devoid of complications or failure and retreatment, with either a surgical or endovascular technique, may often be required. CASE REPORTS: Two cases are presented in which surgery was required after coil embolization. In one case, surgical treatment was performed one month later because of regrowth and subsequent bleeding of the aneurysm. In the second case, surgical treatment was carried out six months later because of recanalization …

Proeryptotic Activity of 4-Hydroxynonenal: A New Potential Physiopathological Role for Lipid Peroxidation Products

2020

Background: Eryptosis is a physiological, apoptosis-like death of injured erythrocytes crucial to prevent premature haemolysis and the pathological sequalae generated by cell-free haemoglobin. When dysregulated, the process is associated to several inflammatory-based pathologies. 4-Hydroxy-trans-2-nonenal (HNE) is an endogenous signalling molecule at physiological levels and, at higher concentrations, is involved in the pathogenesis of several inflammatory-based diseases. This work evaluated whether HNE could induce eryptosis in human erythrocytes. Methods: Measurements of phosphatidylserine, cell volume, intracellular oxidants, Ca++, glutathione, ICAM-1, and ceramide were assessed by flow …

Brain tissue pO2 related to SjvO2, ICP, and CPP in severe brain injury

2000

The aim of this report is to present first experience in comparing the course of brain tissue oxygen pressure values (PtiO2) to changes in jugular vein oxygen saturation (SjvO2), intracranial pressure (ICP), and cerebral perfusion pressure (CPP) after severe brain injury. PtiO2 monitoring was done using a polarographic Clark type microcatheter (LICOX pO2 probe) (GMS, Kiel, Germany) with a diameter of 0.5 mm and a sensitive area 7.9 mm long inserted in a right frontal position. The microcatheter was connected to a LICOX pO2 device. A fiber-optic catheter was used to measure SjvO2 and placed into the right internal jugular vein. The ICP monitoring was performed with a fiber-optic intraparench…

Multicenter prospective study of concordance between embryonic cell-free DNA and trophectoderm biopsies from 1301 human blastocysts

2020

Background The recent identification of embryonic cell-free DNA in spent blastocyst media has opened a new era of possibilities for noninvasive embryo aneuploidy testing in assisted reproductive technologies. Yet, previous studies assessing a limited number of embryos reported variable concordance between embryonic cell-free DNA and trophectoderm biopsies, thus questioning the validity of this approach. Objective This study aimed to evaluate the concordance and reproducibility of testing embryonic cell-free DNA vs trophectoderm DNA obtained from the same embryo in a large sample of human blastocysts and to assess the contribution of the inner cell mass and trophectoderm to embryonic cell-fr…

Effects of muscular exercise on erythrocyte adenosine triphosphate concentration in patients with insulin-dependent diabetes mellitus.

1987

Type I diabetes mellitus represents a metabolic disorder in which intracellular glycolytic pathway is inhibited by insulin deficiency, with the subsequent decreased availability of energetic substrates such as ATP. Some aspects of the energetic metabolism in response to an intensive demand (muscular exercise) were investigated, in a group of 10 ketotic diabetic patients, by measuring erythrocyte adenosine triphosphate (ATP) and blood glucose, free fatty acids (FFA) and lactate levels. In the diabetic subjects, in comparison with normal subjects, the decreased levels of erythrocyte ATP at rest did not increase after exercise, while the increased levels of FFA at rest did not diminish after e…

Impairment of the extrusion transporter for asymmetric dimethyl-L-arginine: a novel mechanism underlying vasospastic angina.

2012

Abstract A 37-year old male patient presented with frequent angina attacks (up to 40/day) largely resistant to classical vasodilator therapy. The patient showed severe coronary and peripheral endothelial dysfunction, increased platelet aggregation and increased platelet-derived superoxide production. The endothelial nitric oxide synthase (eNOS)-inhibitor N G -nitro- l -arginine methyl ester (L-NAME) reduced superoxide formation in platelets identifying “uncoupled” eNOS as a superoxide source. Oral l -arginine normalized coronary and peripheral endothelial dysfunction and reduced platelet aggregation and eNOS-derived superoxide production. Plasma concentrations of the endogenous NOS inhibito…