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1.
Int J Audiol ; 42(2): 82-8, 2003 Mar.
Article in English | MEDLINE | ID: mdl-12641391

ABSTRACT

Pendred syndrome is an autosomal recessive inherited disorder characterized by profound hearing impairment and inappropriate iodine release by the thyroid on perchlorate challenge. Thirty-three cases comprising members of 13 families and eight isolated cases were studied, with detailed audiological and vestibular investigation and computerized tomography. A uniform, profound, symmetrical sensorineural hearing loss was identified in all cases. Approximately one-third of the group reported progressive hearing impairment, in childhood or adolescence, associated with head injury, infection, or delayed secondary hydrops. Ninety per cent of the cases scanned showed dilated vestibular aqueducts, and all cases with progression of the hearing impairment demonstrated this structural abnormality. Approximately one-third of the cases had normal vestibular function, but a further third demonstrated a unilateral peripheral deficit, while the remaining third showed bilateral vestibular hypofunction. There was no intra-familial concordance of vestibular findings, and no correlation between vestibular abnormality and presence or absence of a dilated vestibular aqueduct, with or without a Mondini malformation. In older children and adults, Pendred syndrome was associated with a profound, symmetrical, sensorineural auditory impairment, and a variety of vestibular abnormalities, which are not uniform within families, or correlated with structural labyrinthine deformities.


Subject(s)
Ear, Inner/abnormalities , Hearing Loss, Sensorineural/complications , Thyroid Diseases/complications , Vestibule, Labyrinth/abnormalities , Adolescent , Adult , Audiometry, Pure-Tone/methods , Child , Female , Hearing Loss, Sensorineural/diagnosis , Hearing Loss, Sensorineural/genetics , Humans , Iodine/metabolism , Male , Middle Aged , Perchlorates/pharmacology , Reflex, Acoustic/physiology , Severity of Illness Index , Sodium Compounds/pharmacology , Syndrome , Thyroid Diseases/genetics , Thyroid Diseases/metabolism
2.
J Burn Care Rehabil ; 23(4): 273-9, 2002.
Article in English | MEDLINE | ID: mdl-12142581

ABSTRACT

Burn care is costly, complex, and poorly reimbursed. Capturing evaluation and management codes is an essential step in obtaining reimbursement for services rendered. For surgeons used to billing on the basis of Current Procedural Terminology codes, this represents a significant paradigm shift. In an effort to document the care provided and increase compliance with billing standards, we created computerized history and physical examination notes and progress notes specifically for burn patients. Drop down menus are included to answer directed queries, which allows the majority of the documentation to be completed with a point and click of the mouse. The note is completed by the house staff except for the "assessment and plan," which are entered by the attending physician who reviews and then electronically signs the note. A log of electronically signed notes is generated weekly for billing purposes. The use of these computerized documents has been reviewed and approved by the coding and quality assurance specialists within our billing organization. We believe these tools maximize the efficiency of documenting burn patient care, while minimizing the effort necessary to comply with evaluation and management guidelines. The aim of this study was to test the new computerized method at our institution to see whether it would improve documentation for evaluation and management services provided to burn patients. The results prove that this new system accomplished the goal we had set.


Subject(s)
Burn Units/economics , Burns/economics , Burns/therapy , Documentation , Insurance, Health, Reimbursement , Medical Records Systems, Computerized , Burn Units/statistics & numerical data , Diagnosis-Related Groups , Efficiency, Organizational , Humans , Program Development , Quality Control , Retrospective Studies , Software
3.
Clin Radiol ; 53(4): 268-73, 1998 Apr.
Article in English | MEDLINE | ID: mdl-9585042

ABSTRACT

Pendred syndrome comprises the association of severe congenital sensorineural deafness with thyroid pathology. Although it is the commonest form of syndromic hearing loss, the primary genetic defect remains unknown. The variable clinical presentation allied to the difficulty in securing the diagnosis have resulted in relatively poor documentation of the radiological features of this syndrome. We now present data on 40 patients, all complying with strict diagnostic criteria for the disorder, and describe our experience of the prevalence of specific malformations of the inner ear as well as comparing the relative merits of computed tomography (CT) and magnetic resonance imaging (MRI) in the investigation of this inherited condition. Deficiency of the interscalar septum in the distal coils of the cochlea (Mondini deformity) was found to be a common but probably not a constant feature of Pendred syndrome. However, enlargement of the endolymphatic sac and duct in association with a large vestibular aqueduct was present in all 20 patients examined by MRI. We conclude that thin section high resolution MRI on a T2 protocol in the axial and sagittal planes is the imaging investigation of choice.


Subject(s)
Deafness/diagnostic imaging , Ear, Inner/abnormalities , Cochlea/abnormalities , Cochlea/diagnostic imaging , Deafness/congenital , Ear, Inner/diagnostic imaging , Ear, Inner/pathology , Female , Humans , Magnetic Resonance Imaging , Male , Syndrome , Tomography, X-Ray Computed , Vestibule, Labyrinth/abnormalities , Vestibule, Labyrinth/pathology
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