Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 4 de 4
Filter
Add more filters










Database
Language
Publication year range
1.
Urology ; 83(3 Suppl): S8-17, 2014 Mar.
Article in English | MEDLINE | ID: mdl-24275285

ABSTRACT

For the 2010 International Consultation on Urethral Strictures, all available published data relating to the evaluation and follow-up of patients with anterior urethral stricture or posterior urethral stenosis were reviewed and evaluated. Selected manuscripts were classified by Level of Evidence using previously established criteria. Consensus was achieved through group discussion, and formal recommendations were established and graded on the basis of levels of evidence and expert opinion. Retrograde urethrography remains the de facto standard for the evaluation of patients with urethral stricture. It can readily be combined with voiding cystourethrography to achieve a synergistic evaluation of the entire urethra, and this approach is currently recommended as the optimal method for pretreatment staging. Cystoscopy is recommended as the most specific procedure for the diagnosis of urethral stricture and is a useful adjunct in the staging of anterior urethral stricture, particularly to confirm abnormal or equivocal findings on imaging studies. Cystoscopy is also an important modality for assessing the bladder neck and posterior urethra in the setting of a pelvic fracture-related urethral injury. Although urethrography and cystoscopy remain the principle forms of assessment of the patient with urethral stricture, additional adjuncts include uroflowmetry, symptom scores, quality of life assessments, ultrasonography, computed tomography, and magnetic resonance imaging. These modalities might be helpful to further evaluate patients in select circumstances or provide a less invasive approach to monitoring outcomes after surgical treatment. Further research is needed to establish consensus opinion as to the definition of success after urethroplasty and to develop standardized patient outcome measures.


Subject(s)
Consensus , Urethral Stricture/diagnosis , Contrast Media , Cystoscopy , Diagnostic Imaging/methods , Ejaculation/physiology , Follow-Up Studies , Humans , Male , Patient Positioning , Penile Erection/physiology , Radiography , Ultrasonography , Urethra/diagnostic imaging , Urethral Stricture/physiopathology , Urinary Bladder/diagnostic imaging
2.
Blood ; 118(19): 5267-77, 2011 Nov 10.
Article in English | MEDLINE | ID: mdl-21791420

ABSTRACT

The hereditary stomatocytoses are a series of dominantly inherited hemolytic anemias in which the permeability of the erythrocyte membrane to monovalent cations is pathologically increased. The causative mutations for some forms of hereditary stomatocytosis have been found in the transporter protein genes, RHAG and SLC4A1. Glucose transporter 1 (glut1) deficiency syndromes (glut1DSs) result from mutations in SLC2A1, encoding glut1. Glut1 is the main glucose transporter in the mammalian blood-brain barrier, and glut1DSs are manifested by an array of neurologic symptoms. We have previously reported 2 cases of stomatin-deficient cryohydrocytosis (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with cataracts, seizures, mental retardation, and movement disorder. We now show that sdCHC is associated with mutations in SLC2A1 that cause both loss of glucose transport and a cation leak, as shown by expression studies in Xenopus oocytes. On the basis of a 3-dimensional model of glut1, we propose potential mechanisms underlying the phenotypes of the 2 mutations found. We investigated the loss of stomatin during erythropoiesis and find this occurs during reticulocyte maturation and involves endocytosis. The molecular basis of the glut1DS, paroxysmal exercise-induced dyskinesia, and sdCHC phenotypes are compared and discussed.


Subject(s)
Glucose Transporter Type 1/deficiency , Glucose Transporter Type 1/genetics , Hyperkalemia/congenital , Membrane Proteins/deficiency , Mutation , Amino Acid Sequence , Animals , Cataract/blood , Cataract/genetics , Deoxyglucose/metabolism , Erythrocytes/metabolism , Female , Glucose Transporter Type 1/blood , Glucose Transporter Type 1/chemistry , Humans , Hyperkalemia/blood , Hyperkalemia/genetics , Hyperkalemia/metabolism , In Vitro Techniques , Ion Transport , Membrane Proteins/blood , Models, Molecular , Molecular Sequence Data , Mutant Proteins/blood , Mutant Proteins/chemistry , Mutant Proteins/genetics , Oocytes/metabolism , Recombinant Proteins/genetics , Recombinant Proteins/metabolism , Structural Homology, Protein , Syndrome , Xenopus laevis
4.
Intensive Care Med ; 32(10): 1606-12, 2006 Oct.
Article in English | MEDLINE | ID: mdl-16874495

ABSTRACT

OBJECTIVE: To identify factors associated with the use of intracranial pressure (ICP) monitoring and to establish which ICP-targetted therapies are being used in children with severe traumatic brain injury (TBI) in the United Kingdom. To evaluate current practice against recently published guidelines. DESIGN AND SETTING: Prospective data collection of clinical and demographic information from paediatric and adult intensive care units in the UK and Ireland admitting children (< 16 years) with TBI between February 2001 and August 2003. RESULTS: Detailed clinical information was obtained for 501 children, with information on the use of ICP monitoring available in 445. ICP monitoring was used in only 59% (75/127) of children presenting with an emergency room Glasgow Coma Scale of 8 or below. Large between centre variation was seen in the use of ICP monitoring, independent of severity of injury. There were 86 children who received ICP-targetted therapies without ICP monitoring. Wide between centre variation was found in the use of ICP-targetted therapies and in general aspects of management, such as fluid restriction, the use of muscle relaxants and prophylactic anticonvulsants. Intra-ventricular catheters are rarely placed (6% of cases); therefore cerebrospinal fluid drainage is seldom used as a first-line therapy for raised ICP. Jugular venous bulb oximetry (4%), brain microdialysis (< 1%) and brain tissue oxygen monitoring (< 1%) are rarely used in current practice. Contrary to published guidelines, moderate to severe hyperventilation is being used without monitoring for cerebral ischaemia. CONCLUSIONS: There is an urgent need for greater standardisation of practice across UK centres admitting children with severe TBI.


Subject(s)
Brain Injuries/complications , Brain Injuries/therapy , Intracranial Hypertension/etiology , Intracranial Hypertension/therapy , Monitoring, Physiologic/methods , Adolescent , Brain Injuries/physiopathology , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Intensive Care Units, Pediatric/statistics & numerical data , Intracranial Hypertension/physiopathology , Intracranial Pressure , Logistic Models , Male , Practice Guidelines as Topic , Proportional Hazards Models , Prospective Studies , United Kingdom
SELECTION OF CITATIONS
SEARCH DETAIL
...