PubMed Health⌕ Search

Biomedical subjects

Colin L W Driscoll

Publications and source records attributed to Colin L W Driscoll.

At least 19 recordsLinked to original sources
PubMed2026

NF2-related Schwannomatosis Diagnosed Before and After 30 Years of Age: Differences in Disease Presentation and Rates of Positive Genetic Testing.

OBJECTIVE: Characterize pathogenic variants, rates of mosaicism, genetic testing yield, and disease severity among patients with NF2-related schwannomatosis dichotomized by diagnosis before or after the age of 30. STUDY DESIGN: Retrospective analysis. SETTING: Tertiary referral center multidisciplinary NF2 clinic from 2021 to 2024. PATIENTS: Patients with NF2-related schwannomatosis. INTERVENTION: Next-generation sequencing. MAIN OUTCOME MEASURE: Rates of mosaicism, genetic testing rates and yield, and overall disease severity by tumor burden. RESULTS: From 2021 to 2024, there were 32 patients &#x2265;30 years of age and 39 patients diagnosed at younger ages. Patients diagnosed &#x2265;30 years exhibited decreased likelihood of receiving genetic testing (53% vs. 85%; P =0.009) and decreased genetic yield (defined as identification of a pathogenic genetic variant in those undergoing testing; 65% vs. 85%; P =0.20). Both age groups demonstrated similar rates of pathogenic variant type with loss-of-function being the predominant variant detected in 73% vs. 67%, for &#x2265;30 vs. <30 years of age; P =0.90. Those &#x2265;30 years harbored fewer number of average anatomic regions involved by tumor (2.3 vs. 3.4; P <0.001) and decreased total number of tumors (7 vs. 12; P <0.001). CONCLUSIONS: Patients diagnosed with NF2-related schwannomatosis at age &#x2265;30 years exhibited reduced disease severity compared with those diagnosed at a younger age despite harboring similar distributions of genetic pathogenic variants inclusive of loss-of-function pathogenic variants. These observations emphasize the importance of considering patient age in addition to genetic testing for diagnostic framing tailored to patients' biology and clinical context to optimize care in the setting of NF2-related schwannomatosis.

Humans↗
PubMed2007

Scalar localization of the electrode array after cochlear implantation: a cadaveric validation study comparing 64-slice multidetector computed tomography with microcomputed tomography.

HYPOTHESIS: Improved resolution available with 64-slice multidetector computed tomography (MDCT) could potentially be used clinically to localize the cochlear implant (CI) electrode array within the basal turn. BACKGROUND: In CI surgery, the electrode array should be inserted into and remain within the scala tympani to avoid injury to Reissner's membrane and the scala media. Correlating the position of the electrode in the basal turn with surgical technique and implant design could be helpful in improving outcomes. METHODS: After a standard left mastoid exposure of the round window niche through the facial recess performed on a cadaver head, an electrode array from a Nucleus Softip Contour CI was fully inserted through a cochleostomy. The head was then scanned axially on a 64-slice MDCT with 0.4-mm slice thickness and reconstructed into the oblique axial, oblique coronal, and oblique sagittal planes of the cochlea. The temporal bone was then harvested and imaged on a microcomputed tomographic scanner using 20-microm slice thickness. Identical reconstructions were made and compared with the 64-slice images to confirm exact location of the electrode array. RESULTS: The 64-slice MDCT accurately localized the electrode array to the scala tympani. This was best demonstrated in the oblique sagittal plane, identifying the electrode array in the posterior inferior portion of the basal turn, posterior to the spiral lamina. CONCLUSION: This ex vivo validation study suggests that 64-slice MDCT has the potential to allow accurate localization of the CI electrode array within the basal turn of the cochlea.

Cadaver↗
PubMed2006

Cochlear implantation in patients with neurofibromatosis type 2 and bilateral vestibular schwannoma.

OBJECTIVE: To investigate the results of cochlear implantation in patients with neurofibromatosis Type 2 (NF2) and bilateral vestibular schwannoma. STUDY DESIGN: Retrospective case review. SETTING: Three academic tertiary referral centers. PATIENTS: Seven patients with NF2 and bilateral vestibular schwannoma who lost hearing in at least one ear after treatment of their tumor (surgery or radiation therapy). INTERVENTION: Cochlear implantation after treatment of their vestibular schwannoma. MAIN OUTCOME MEASURE: Postimplantation audiometric scores (pure-tone average thresholds, consonant-nucleus-consonant (CNC) words/phonemes, Central Institute for the Deaf (CID) sentences, Hearing in Noise Test (HINT) quiet/noise, and Monosyllable, Trochee, Spondee (MTS) recognition/category tests), patient satisfaction, and device use patterns. RESULTS: The average age at implantation was 40 years (range, 16-57 yr). Follow-up ranged from 6 to 88 months after implantation. Three patients were implanted with residual useful hearing in the contralateral ear, whereas four patients had no hearing in the contralateral ear. Hearing loss was due to surgical excision of tumor (n=5) or gamma-knife radiotherapy (n=2). Postactivation pure-tone average thresholds in the implanted ear ranged from 30 to 55 dB (average, 32.5 dB), although speech reception testing varied considerably among subjects. Despite this variability, all patients continue to use the device on a daily basis. CONCLUSION: In selected cases of deafness in patients with NF2 where there has been anatomic preservation of the auditory nerve after acoustic neuroma resection or radiation therapy, cochlear implantation may offer some improvement in communication skills, including the possibility of open-set speech communication in some patients. These results compare favorably to the auditory brainstem implant offering an alternative for hearing rehabilitation in patients with NF2.

Adolescent↗
PubMed2006

Patient outcomes after vestibular schwannoma management: a prospective comparison of microsurgical resection and stereotactic radiosurgery.

OBJECTIVE: The best management for patients with small- to medium-sized vestibular schwannomas (VS) is controversial. METHODS: : A prospective cohort study of 82 patients with unilateral, unoperated VS less than 3 cm undergoing surgical resection (n = 36) or radiosurgery (n = 46). Patients undergoing resection were younger (48.2 yr versus 53.9 yr, P = 0.03). The groups were similar with regard to hearing loss, associated symptoms, and tumor size. The mean follow-up period was 42 months (range, 12-62 mo). RESULTS: Normal facial movement and preservation of serviceable hearing was more frequent in the radiosurgical group at 3 months (P < 0.001), 1 year (P < 0.001), and at the last follow-up examination (P < 0.01) compared with the surgical resection group. Patients undergoing surgical resection had a significant decline in the following subscales of the Health Status Questionnaire 3 months after surgery: physical functioning (P = 0.006), role-physical (P < 0.001), energy/fatigue (P = 0.02), and overall physical component (P = 0.004). Patients in the surgical resection group continued to have a significant decline in the physical functioning (P = 0.04) and bodily pain (P = 0.04) subscales at 1 year and in bodily pain (P = 0.02) at the last follow-up examination. The radiosurgical group had no decline on any component of the Health Status Questionnaire after the procedure. The radiosurgical group had lower mean Dizziness Handicap Inventory scores (16.5 versus 8.4, P = 0.02) at the last follow-up examination. There was no difference in tumor control (100 versus 96%, P = 0.50). CONCLUSION: Early outcomes were better for VS patients undergoing stereotactic radiosurgery compared with surgical resection (Level 2 evidence). Unless long-term follow-up evaluation shows frequent tumor progression at currently used radiation doses, radiosurgery should be considered the best management strategy for the majority of VS patients.

Cohort Studies↗
PubMed2006

Primary melanocytic tumor of the cerebellopontine angle mimicking a vestibular schwannoma: case report.

OBJECTIVE: The majority of tumors of the cerebellopontine angle (CPA) are benign. We report the case of a primary malignant melanoma of the CPA that mimicked a vestibular schwannoma (acoustic neuroma). We discuss the differential diagnosis and prognosis of melanotic lesions at this location. CLINICAL PRESENTATION: A 49-year-old man presented with a 7-year history of unilateral deafness and a several month history of imbalance, intractable nausea and vomiting, as well as weight loss. A neurological work-up revealed a large tumor in the left CPA radiographically diagnosed as a vestibular schwannoma. INTERVENTION: A translabyrinthine approach revealed a pigmented, vascular neoplasm encasing vessels and cranial nerves of the left CPA. The tumor was subtotally resected, and a histopathological diagnosis of melanoma was made. The patient had no history of cutaneous melanoma and no other site of disease was ever discovered. CONCLUSION: This case most likely represents primary melanoma of the central nervous system that mimicked a vestibular schwannoma. The differential diagnosis of melanotic lesions of the CPA is discussed as are the prognostic implications of each diagnosis.

Cerebellar Neoplasms↗
PubMed2006

Cogan syndrome: a retrospective review of 60 patients throughout a half century.

OBJECTIVE: To evaluate the disease manifestations and clinical course of patients affected by Cogan syndrome (a syndrome of nonsyphilitic interstitial keratitis and vestibuloauditory symptoms) at a single institution during roughly a half century. PATIENTS AND METHODS: Medical records of all patients diagnosed as having Cogan syndrome at the Mayo Clinic in Rochester, Minn, and who were followed up from 1940 to 2002 were comprehensively reviewed. Otolaryngologic, ophthalmologic, and systemic manifestations of disease were analyzed. Analysis included patient demographics, presenting manifestations, delayed manifestations, laboratory testing, physical examination features, therapeutic interventions, disease course, and hearing and vision outcomes. RESULTS: Sixty patients were identified as having Cogan syndrome, with follow-up from 1940 to 2002. Most patients presented initially with vestibuloauditory symptoms, most commonly sudden hearing loss (50%). The most common inflammatory ophthalmologic condition noted was bilateral interstitial keratitis. Headache (40%), fever (27%), and arthralgia (35%) were the most frequently encountered systemic manifestations. Evidence of aortitis was found in 12% of patients. Complete hearing loss was eventually noted in 52% of affected patients, whereas permanent loss of any degree of vision was uncommon. Cochlear implantation outcomes were uniformly good. Death directly or indirectly attributed to the effects of Cogan syndrome was noted in 4 patients. CONCLUSIONS: The major disease-related morbidities were due to vestibuloauditory disease and only infrequently due to systemic manifestations such as vasculitis, with or without aortitis. Cochlear implantation has been of major benefit in modern hearing rehabilitation for this patient population. We advise caution before institution of protracted courses of high-dose corticosteroids and/or chemotherapy for patients without pronounced systemic disease or severe eye disease unmanageable by topical or periocular corticosteroids alone.

Adolescent↗
PubMed2005

Imaging microscopy of the middle and inner ear: Part II: MR microscopy.

Anatomic definition of the membranous labyrinth in the clinical setting remains limited despite significant technological advances in magnetic resonance imaging (MRI). Recent developments in ultra-high resolution imaging for use in the research laboratory on small animals and pathologic specimens have given rise to the field of imaging microscopy. We have delineated for the first time the labyrinthine structures in a human temporal bone cadaver specimen using these novel techniques. This approach to the study of the middle and inner ear avoids tissue destruction inherent in histological preparations using standard light microscopy techniques. Part I of this series focused on bony middle and inner ear anatomy with MicrCT. In Part II, we present high-resolution MicroMR images to highlight the utility of this technique in teaching radiologists and otolaryngologists clinically relevant anatomy focusing on the membranous labyrinth. This anatomy can be further enhanced using 3D volume-rendered images. It is hoped that familiarity with these ex vivo anatomic techniques will encourage further developments in the field of high-resolution clinical imaging for patients with temporal bone pathologies.

Anatomy, Cross-Sectional↗
PubMed2005

Safety evaluation of titanium middle ear prostheses at 3.0 tesla.

OBJECTIVE: To assess the magnetic resonance imaging (MRI) safety of titanium middle ear prostheses at 3.0 tesla (T). STUDY DESIGN AND SETTING: Titanium middle ear prostheses from 3 commercial vendors were examined for magnetic field interactions at 3 T. Initially, ex vivo studies were performed to test for rotational motion and forward displacement (translational motion) of the prostheses in a static magnetic field. If movement was observed during this screening study, then the prosthesis was tested to determine the translational or rotational force acting upon the prosthesis. In addition to testing for prosthesis displacement, temperature changes of the prostheses were measured to assess for radiofrequency heating during imaging. RESULTS: Twenty-one of the 24 titanium prostheses tested revealed no movement when tested in the 3 T static magnetic field. Three prostheses revealed minimal movement during the screening study. A translational force test (string test) was performed upon these 3 prostheses, and the measured angle of displacement was used to determine the force. This calculated force acting upon each prosthesis was essentially zero. Therefore, we conclude that the magnetic field interaction is negligible. A positive control with a ferromagnetic stainless steel prosthesis demonstrated obvious displacement during the screening study, as well as deflection of the prosthesis by 90 degrees in the translational force test. Last, heating of the titanium prostheses did not occur in the 7 models tested. CONCLUSIONS: Middle ear prostheses made from titanium are safe, neither deflecting nor heating during magnetic resonance examinations conducted at 3 T. EBM RATING: C-1.

Equipment Failure Analysis↗
PubMed2004

Imaging microscopy of the middle and inner ear: Part I: CT microscopy.

Anatomic definition of the middle ear and bony labyrinth in the clinical setting remains limited despite significant technological advances in computed tomography (CT). Recent developments in ultra-high resolution imaging for use in the research laboratory on small animals and pathologic specimens have given rise to the field of imaging microscopy. We have taken advantage of this technique to image a human temporal bone cadaver specimen to delineate middle ear and labyrinthine structures, only seen previously using standard light microscopy. This approach to the study of the inner ear avoids tissue destruction inherent in histological preparations. We present high-resolution MicroCT images of the middle ear and bony labyrinth to highlight the utility of this technique in teaching radiologists and otolaryngologists clinically relevant temporal bone anatomy. This study is not meant to function as a complete anatomic atlas of the temporal bone. We have selected several structures that are routinely delineated on clinical scanners to highlight the utility of imaging microscopy in displaying critical anatomic relationships in three orthogonal planes. These anatomic relationships can be further enhanced using 3D volume rendering.

Cadaver↗
PubMed2004

Progressive calvarial and upper cervical pneumatization associated with habitual valsalva maneuver in a 70-year-old man.

A 70-year old man with a 15-year-history of chronic daily Valsalva maneuvers for left ear congestion presented with worsening vertigo and calvarial (occipitoparietal) and upper cervical hyperpneumatization. With continued frequent Valsalva maneuvers, subsequent studies demonstrated increased pneumatization with extension of air into the epidural space, causing mass effect on the left parietal lobe. Four months after discontinuing the habitual Valsalva maneuvers, CT demonstrated resorption of the epidural air and partial regression of the calvarial pneumatization.

Aged↗
PubMed2004

3-T imaging of the cochlear nerve and labyrinth in cochlear-implant candidates: 3D fast recovery fast spin-echo versus 3D constructive interference in the steady state techniques.

BACKGROUND AND PURPOSE: High-resolution imaging of the internal auditory canal and labyrinth at 1.5 T is often performed by using three-dimensional (3D) fast spin-echo or T2* techniques. We evaluated both techniques at 3 T in the preoperative assessment of patients being considered for cochlear implants. METHODS: Sagittal 3D fast recovery fast spin-echo (FRFSE) and 3D constructive interference in the steady state (CISS) images were acquired in eight patients at 3.0 T by using dual surface coils. Contrast-to-noise ratios (CNRs) for the intracanalicular nerve and CSF were measured in the internal auditory canal. Two neuroradiologists reviewed the images to determine whether the techniques provided images of diagnostic quality. RESULTS: CNRs for 3D CISS were twice those obtained with 3D FRFSE. Both techniques provided images of diagnostic quality, though spurious signal intensity loss at the apex of the superior semicircular canals was encountered on 3D FRFSE images in four of eight patients. CONCLUSION: Both 3D FRFSE and 3D CISS provide high-resolution images of the internal auditory canal and labyrinth at 3.0 T. We predict that the superior CNRs obtained with 3D CISS will prove advantageous as we move to smaller fields of view at higher field strength.

Artifacts↗
PubMed2003

Significance of House-Brackmann facial nerve grading global score in the setting of differential facial nerve function.

OBJECTIVE: To determine the clinical significance of the House-Brackmann facial nerve grading scale (HBFNGS) in the setting of differential function along the branches of the facial nerve. STUDY DESIGN: Prospective study of 38 patients with facial palsy who demonstrated differential facial function. SETTING: Tertiary referral center. PATIENTS: Patients with facial nerve dysfunction from any cause. Patients with complete facial nerve paralysis (House-Brackmann Grade 6) were excluded. INTERVENTION: Physicians were provided with printed description of the HBFNGS and asked to report facial nerve function as a traditional global score and as a regional score based on the House-Brackmann scale for the forehead, eye, nose, and mouth. This was reported as F(w) E(x) N(y) M(z), where w, x, y, and z ranged from 1 to 6 based on the HBFNGS. Synkinesis was graded as none, mild, or severe. MAIN OUTCOME MEASURES: The traditional HBFNGS score was compared with a regional grading facial nerve grading system based on the HBFNGS for the forehead, eye, nose, and mouth. Agreement between the traditional global score and the regional scores was analyzed. RESULTS: In patients with variable facial weakness, the single House-Brackmann score did not fully communicate their facial function. Further, the single grade did not always correlate with the best or worst function along the four facial regions. The single House-Brackmann score most strongly correlated with the regional scoring of the eye (61%), followed by the nose/midface (40%), mouth (32%), and forehead (18%). The global score did not correlate with the worst regional score in 30 patients (79%). In 3 of 5 patients with synkinesis and an obligatory Grade 3 or higher in the global House-Brackmann grading system, the regional facial function was Grade 2 or better at one or more areas of the face. CONCLUSIONS: In patients with differential facial function, a single global number is inadequate to describe facial function and primarily reflects the function of the eye. Regional assessment using the HBFNGS and reported as F(w) E(x) N(y) M(z) more fully communicates facial function.

Adolescent↗
PubMed2003

Costimulating aberrant T cell responses by B7-H1 autoantibodies in rheumatoid arthritis.

A pathogenic hallmark of rheumatoid arthritis (RA) is persistent activation of self-reactive CD4(+) T cells. The cause of this aberrant activity remains elusive. We report here detection of autoantibodies against B7-H1, a recently described member of the B7 family, in 29% of patients with RA versus 4% of healthy donors. High-level expression of cell surface B7-H1 are found on activated human CD4(+), CD8(+), and CD45RO(+) T cells. Immobilized autoantibodies to B7-H1 are capable of costimulating the proliferation of CD4(+) T cells in vitro, and the presence of these autoantibodies correlates with active disease status. Using immobilized B7-H1 mAb's and programmed death 1Ig, we demonstrate that engagement of B7-H1 on CD4(+) T cells costimulates proliferation and secretion of IL-10, and subsequently leads to programmed cell death, accompanied with upregulated expression of TNF-related apoptosis-inducing ligand and activation of caspase-3. Taken together with our previous findings, these data indicate a bidirectional signaling role of B7-H1 in T cell costimulation and apoptosis and implicate B7-H1 autoantibodies as contributing to the progression of RA by inducing aberrant T cell responses.

Adolescent↗
PubMed2003

Evolution of a cochlear schwannoma on clinical and neuroimaging studies. Case report.

The authors report on a patient with a rare schwannoma that arose from the cochlear division of the vestibulocochlear nerve. Distinctively, the lesion appeared to arise from the cochlea itself and was monitored with clinical and neuroimaging studies for 12 years before it was diagnosed and treated. The atypical occurrence of schwannomas of the vestibulocochlear nerve originating in the inner ear structures underscores the high level of clinical suspicion required for the diagnosis of these lesions in patients presenting with persistent auditory and vestibular symptoms.

Cochlea↗
PubMed2003

Rotatory nystagmus synchronous with heartbeat: a treatable form of nystagmus.

PURPOSE: To describe a treatable form of nystagmus. METHODS: Two patients recently evaluated at the Mayo Clinic had experienced various forms of oscillopsia, imbalance, and worsening symptoms with a Valsalva maneuver. Close inspection of the eye revealed a subtle rotatory nystagmus that was synchronous with the heartbeat. RESULTS: The two patients had surgical treatment for dehiscence of the superior semicircular canal; postoperatively, their symptoms completely resolved. This is a relatively newly discovered condition that has not been described on either slit-lamp or ophthalmoscopic examination. The cause is related to a dehiscence of the superior semicircular canal that permits communication of variable pressures between the intracranial cavity and the perilymphatic spaces of the semicircular canal. CONCLUSION: Being aware of this unusual form of nystagmus may permit physicians to diagnose it--one of the few treatable forms of nystagmus.

Humans↗
PubMed2002

Isolated, giant cerebellopontine angle craniopharyngioma in a patient with Gardner syndrome: case report.

OBJECTIVE AND IMPORTANCE: We report the case of a 29-year-old man with Gardner syndrome and an isolated, giant cerebellopontine angle craniopharyngioma. Our description of this patient is only the second case report of a craniopharyngioma arising primarily in the cerebellopontine angle. CLINICAL PRESENTATION: The patient presented with a 1-year history of progressive neurological impairment and headache. On the basis of the patient's history of multiple dermal fibromas, a cranial osteoma, familial adenomatous polyposis (FAP), a total abdominal colectomy, and an adenoma of the ampulla of Vater, we diagnosed the patients condition as Gardner syndrome. INTERVENTION: Magnetic resonance imaging showed a large cerebellopontine angle tumor, which was removed through a suboccipital retromastoid craniotomy. The pathological features were those of an adamantinomatous craniopharyngioma. The patient has done well postoperatively and has no new neurological deficits. A careful retrospective review of the preoperative imaging shows that this tumor was located exclusively in the posterior fossa and was not an extension of a sellar, suprasellar, or clival craniopharyngioma. CONCLUSION: We present the second reported case of FAP and craniopharyngioma. There is no known genetic link between FAP and craniopharyngioma. Now that the patient has manifested a primary tumor of the central nervous system with FAP, it is unclear whether he should be classified as having Turcot syndrome. For this patient, we recommended vigilant follow-up imaging and forgoing external beam radiotherapy unless there is a documented recurrence of his craniopharyngioma.

Adult↗