Search results for "Insufficiency"
showing 10 items of 506 documents
Agenesis of the renal segment of inferior vena cava associated with venous stasis.
2010
Congenital anomalies of the inferior vena cava is an extremely rare vascular anomaly with controversial pathogenesis. Anomalies of the inferior vena cava (IVC) are present in 0.3% to 0.5% of otherwise healthy individual and in 0.6% to 2% of patients with other cardiovascular defects. The phenomenon of absence of the IVC has been described in a variety of ways such as absence, agenesis, anomalous, and interruption of a particular segment ([infra] hepatic, pre-renal, renal, or infrarenal) of the IVC. We describe a 42-year-old man with chronic venous insufficiency, without DVT, caused by congenital absence of renal segment of the IVC
Alternatives to Endotracheal Intubation for Patients with Neuromuscular Diseases
2005
To evaluate the usefulness of continuous noninvasive mechanical ventilation and mechanical coughing aids to avoid endotracheal intubation and tracheostomy during episodes of acute respiratory failure in patients with neuromuscular disease.We conducted a prospective cohort study at the respiratory medicine ward of a university hospital to study the success rate of the use of continuous noninvasive mechanical ventilation and manually and mechanically (CoughAssist) assisted coughing to avert endotracheal intubation in 24 consecutive episodes of acute respiratory failure for 17 patients with neuromuscular disease. The noninvasive mechanical ventilation and coughing aids were used to reverse dec…
Early auditory evoked potentials (EAEP) in vertebral basilar insufficiency
1979
Stimulation with a short tone pip elicits an acoustic nerve compound action potential (I) and different waves (II--VII) in the inital 10 ms. Seven waves have been studied in 40 control subjects and five waves in 12 patients with vertebral-basilar insufficiency. Abnormalities of the different waves were observed at levels such as cochlea and/or acoustic nerve, medulla, caudal pons, rostral pons, and midbrain. The recording of early auditory evoked potentials (EAEP) is a noninvasive method of confirming impairment of the auditory pathway caused by a reduced vascular supply of vertebral and basilar arteries.
MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissec…
2014
Thoracic aortic aneurysm and dissection (TAAD) is an autosomal-dominant disorder with major life-threatening complications. The disease displays great genetic heterogeneity with some forms allelic to Marfan and Loeys-Dietz syndrome, and an important number of cases still remain unexplained at the molecular level. Through whole-exome sequencing of affected members in a large TAAD-affected family, we identified the c.472CT (p.Arg158(∗)) nonsense mutation in MFAP5 encoding the extracellular matrix component MAGP-2. This protein interacts with elastin fibers and the microfibrillar network. Mutation screening of 403 additional probands identified an additional missense mutation of MFAP5 (c.62GT …
Ten novel mutations found in Aniridia.
1998
Aniridia (AN) is a sight-threatening congenital ocular disorder characterized by iris hypoplasia, corneal pannus, foveal and optic nerve hypoplasia, cataract formation, and glaucoma. In two-thirds of the patients, AN is inherited in an autosomal dominant fashion with almost complete penetrance but variable expression. The remaining cases are sporadic. Aniridia has been shown to be associated with mutations in the PAX6 gene, located on chromosome 11p13, telomeric to the Wilms' tumor predisposition gene (WT1). This paper describes 14 mutations in the PAX6 gene in patients with AN. Among these 14 mutations, 10 have been unpublished until now. They result most probably in haploinsufficiency and…
Analysis of Internal Jugular Vein Insufficiency—A Comparison of Two Ultrasound Methods
2006
Abstract Jugular venous valve insufficiency is a contributing factor to different pathologic conditions. For assessment of insufficiency, two ultrasound techniques have been developed, that are based on very different methodology (direct Doppler assessment versus air contrast ultrasound venography [ACUV]). This study was conducted to compare these two methods to improve comparability of existing studies and diagnostic accuracy in future studies. The function of 40 valves was determined in 20 individuals during a Valsalva maneuver. For direct Doppler assessment, valvular competence was assessed on basis of Doppler recordings, following recently established criteria. Valvular insufficiency in…
Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management
2011
The mucopolysaccharidoses (MPSs) are inherited lysosomal storage disorders caused by the absence of functional enzymes that contribute to the degradation of glycosaminoglycans (GAGs). The progressive systemic deposition of GAGs results in multi-organ system dysfunction that varies with the particular GAG deposited and the specific enzyme mutation(s) present. Cardiac involvement has been reported in all MPS syndromes and is a common and early feature, particularly for those with MPS I, II, and VI. Cardiac valve thickening, dysfunction (more severe for left-sided than for right-sided valves), and hypertrophy are commonly present; conduction abnormalities, coronary artery and other vascular in…
Traumatic lesion of the extracranial vertebral artery--a note-worthy potentially lethal injury.
1994
The autopsy findings from routine neuropathological investigations of the cervical spine after any history of trauma emphasized the vulnerability of the extracranial vertebral arteries. In 21 cases with trauma to the head and neck, normal autopsy procedures did not succeed in revealing an obvious cause of death. Traumatic lesions of the spinal cord such as contusion or neurorrhexis were seen in 10 cases. In 15 cases we observed different degrees and stages of traumatic lesions of the extracranial vertebral arteries. Sudden death due to acute brain stem ischemia might be considered as an explanation in some of these cases. Six case reports with traumatic vertebral artery (VA) lesions after s…
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort…
2015
Background The 17q21.31 deletion syndrome phenotype can be caused by either chromosome deletions or point mutations in the KANSL1 gene. To date, about 60 subjects with chromosome deletion and 4 subjects with point mutation in KANSL1 have been reported. Prevalence of chromosome deletions compared with point mutations, genotype–phenotype correlations and phenotypic variability have yet to be fully clarified. Methods We report genotype–phenotype correlations in 27 novel subjects with 17q21.31 deletion and in 5 subjects with KANSL1 point mutation , 3 of whom were not previously reported. Results The prevalence of chromosome deletion and KANSL1 mutation was 83% and 17%, respectively. All patient…
Prevalence and clinical characteristics of patients with true resistant hypertension in central and Eastern Europe
2013
Objective Scanty information is available on the clinical characteristics of resistant hypertension in Central and East European countries. The Blood Pressure (BP) control rate and CArdiovascular Risk profilE (BP-CARE) study allowed us to assess the prevalence and the main clinical features of resistant hypertension in this population. Design and method The study was carried out in 1312 treated hypertensive patients living in nine Central and East European countries. Results Four hundred and twenty-three patients had apparent resistant hypertension, of whom 168 had pseudo-resistant hypertension (noncompliant/white-coat) and 255 were true treatment-resistant hypertension patients (TRH). Clin…