Αρχειοθήκη ιστολογίου

Τετάρτη 6 Απριλίου 2016

Join us Tuesday, May 3, 2016, for Speech-Language Awareness & Information Day!

FREE ADMISSION!

This community event raises awareness about the resources available to individuals with various speech & language impairments, their family members and friends, and other allied professionals in the San Diego area.

Click below for details and to rsvp!

SAID banner

 

 

 



from Hearing and Balance via ola Kala on Inoreader http://ift.tt/1VaCe2n
via IFTTT

A New Design for Airway Management Training with Mixed Reality and High Fidelity Modeling.

A New Design for Airway Management Training with Mixed Reality and High Fidelity Modeling.

Stud Health Technol Inform. 2016;220:359-362

Authors: Shen Y, Hananel D, Zhao Z, Burke D, Ballas C, Norfleet J, Reihsen T, Sweet R

Abstract
Restoring airway function is a vital task in many medical scenarios. Although various simulation tools have been available for learning such skills, recent research indicated that fidelity in simulating airway management deserves further improvements. In this study, we designed and implemented a new prototype for practicing relevant tasks including laryngoscopy, intubation and cricothyrotomy. A large amount of anatomical details or landmarks were meticulously selected and reconstructed from medical scans, and 3D-printed or molded to the airway intervention model. This training model was augmented by virtually and physically presented interactive modules, which are interoperable with motion tracking and sensor data feedback. Implementation results showed that this design is a feasible approach to develop higher fidelity airway models that can be integrated with mixed reality interfaces.

PMID: 27046605 [PubMed - as supplied by publisher]



from #ENT-PubMed via ola Kala on Inoreader http://ift.tt/1SbEOia
via IFTTT

Music appreciation and music listening in prelingual and postlingually deaf adult cochlear implant recipients.

Music appreciation and music listening in prelingual and postlingually deaf adult cochlear implant recipients.

Int J Audiol. 2016 Apr 4;:1-7

Authors: Moran M, Rousset A, Looi V

Abstract
OBJECTIVE: To explore the music appreciation of prelingually deaf adults using cochlear implants (CIs).
DESIGN: Cohort study. Adult CI recipients were recruited based on hearing history and asked to complete the University of Canterbury Music Listening Questionnaire (UCMLQ) to assess each individual's music listening and appreciation. Results were compared to previous responses to the UCMLQ from a large cohort of postlingually deaf CI recipients.
STUDY SAMPLE: Fifteen prelingually deaf and 15 postlingually deaf adult cochlear implant recipients.
RESULTS: No significant differences were found between the prelingual and postlingual participants for amount of music listening or music listening enjoyment with their CI. Sound quality of common instruments was favourable for both groups, with no significant difference in the pleasantness/naturalness of instrument sounds between the groups. Prelingually deaf CI recipients rated themselves as significantly less able to follow a melody line and identify instrument styles compared to their postlingual peers.
CONCLUSIONS: The results suggest that the pre- and postlingually deaf CI recipients demonstrate equivalent levels of music appreciation. This finding is of clinical importance, as CI clinicians should be actively encouraging all of their recipients to explore music listening as a part of their rehabilitation.

PMID: 27045837 [PubMed - as supplied by publisher]



from #ENT-PubMed via ola Kala on Inoreader http://ift.tt/206ULwn
via IFTTT

Failure pattern and salvage treatment after radical treatment of head and neck cancer.

Failure pattern and salvage treatment after radical treatment of head and neck cancer.

Acta Oncol. 2016 Apr 4;:1-8

Authors: Pagh A, Grau C, Overgaard J

Abstract
Purpose The aim of the study was to test the hypothesis that head and neck cancer (HNC) patients benefit from specialized follow-up (FU), as this strategy ensures timely detection of relapses for successful salvage treatment. This was done by evaluation of the pattern of failure, the temporal distribution of recurrences, and the outcome of salvage treatment in a contemporary cohort of HNC patients. Methods The study evaluated a cohort of 2062 consecutive patients treated with curative intent at Aarhus University Hospital from 1 January 2000 to 31 December 2013. The database of DAHANCA contained recordings of recurrent disease in 567 patients with primary tumors of the larynx, pharynx, oral cavity, nasal cavity, paranasal sinuses and salivary glands. A review of medical records was performed in order to update and supplement the database. Results Failures of the 567 patients were primarily in T-site (65%) followed by N-site (36%) and M-site (22%). The vast majority of the first recurrences occurred within the first years after primary treatment; 62%, 82%, and 91% within the first, second and third year, respectively. Totally, 51% were amenable for salvage treatment, and 44% benefited from salvage in terms of a complete response. Permanent tumor control was observed in 128 patients (23%) after one or two salvage attempts. The highest salvage rate was recorded in patients with primary glottic carcinoma (41%) and the lowest among hypopharyngeal cancers (2%). Asymptomatic recurrence was recorded in 12% of all recurrences and this was found to be a positive prognostic factor for disease-specific survival, as they had significantly better outcome after salvage. Conclusion Our data support the usefulness of specialized FU in terms of early detection of recurrent disease. In particular patients with silent recurrences benefited from early detection, as they had a significantly lower risk ratio of death from primary HNC.

PMID: 27045977 [PubMed - as supplied by publisher]



from #ENT-PubMed via ola Kala on Inoreader http://ift.tt/1RDPREO
via IFTTT

Epithelial IL-18 Equilibrium Controls Barrier Function in Colitis.

http:--linkinghub.elsevier.com-ihub-imag Related Articles

Epithelial IL-18 Equilibrium Controls Barrier Function in Colitis.

Cell. 2015 Dec 3;163(6):1444-56

Authors: Nowarski R, Jackson R, Gagliani N, de Zoete MR, Palm NW, Bailis W, Low JS, Harman CC, Graham M, Elinav E, Flavell RA

Abstract
The intestinal mucosal barrier controlling the resident microbiome is dependent on a protective mucus layer generated by goblet cells, impairment of which is a hallmark of the inflammatory bowel disease, ulcerative colitis. Here, we show that IL-18 is critical in driving the pathologic breakdown of barrier integrity in a model of colitis. Deletion of Il18 or its receptor Il18r1 in intestinal epithelial cells (Δ/EC) conferred protection from colitis and mucosal damage in mice. In contrast, deletion of the IL-18 negative regulator Il18bp resulted in severe colitis associated with loss of mature goblet cells. Colitis and goblet cell loss were rescued in Il18bp(-/-);Il18r(Δ/EC) mice, demonstrating that colitis severity is controlled at the level of IL-18 signaling in intestinal epithelial cells. IL-18 inhibited goblet cell maturation by regulating the transcriptional program instructing goblet cell development. These results inform on the mechanism of goblet cell dysfunction that underlies the pathology of ulcerative colitis.

PMID: 26638073 [PubMed - indexed for MEDLINE]



from #ENT-PubMed via ola Kala on Inoreader http://ift.tt/1PTDQ8V
via IFTTT

The histological components of the phoniatrical body-cover model in minipigs of different ages.

http:--http://ift.tt/1II1iHB http:--http://ift.tt/1Fkw4zC Related Articles

The histological components of the phoniatrical body-cover model in minipigs of different ages.

PLoS One. 2015;10(5):e0128085

Authors: Lang A, Koch R, Rohn K, Gasse H

Abstract
Pigs are models in human phoniatry. However, features of maturation and ageing have not been considered with regard to the so-called body-cover model in this species. Therefore, the glottis of "young" (2-3 months; n = 6) and "old" (4-7 years; n = 6) minipigs was investigated. Their cranial (CraF) and caudal (CauF) vocal folds were histomorphometrically and stratigraphically analysed with emphasis on their amounts of collagen structures and elastic fibres. A dense subepithelial layer (SEL) was a distinct feature of CraF and CauF of both age groups; it was spread upon the underlying loose, flexible "cover" like a fibro-elastic membrane. The "cover" was characterised by the so-called superficial layer (SL), which was distinctly loose in the "young" minipigs, but had a much denser texture in the "old" minipigs. Here, the SL was dominated by elastic fibres in the CraF, but was of mixed qualities (collagenous and elastic) in the CauF. The structural requirements for the SL's function as a loose "cover" were thus met only in the "young" animals. A clearly demarcated intermediate layer (IL)--characterised by high amounts of elastic fibres (as in humans)--was only found in the CraF of the "young" animals. In the "old" animals, it had lost its demarcation. In the depth of the CraF of the "old" animals, many thick collagen fibre bundles were detected in a location equivalent to that of the vocal muscle in the CauF. The development of their large diameters was interpreted as part of the maturation process, thereby supporting the hypothesis of their functional importance as a component of the "body." In the CauF, the amounts of collagen structures increased throughout the entire lamina propria, resulting in a loss of demarcated stratigraphical subdivisions in the "old" minipigs. This situation resembled that described in the vocal fold of geriatric humans.

PMID: 26018404 [PubMed - indexed for MEDLINE]



from #ENT-PubMed via ola Kala on Inoreader http://ift.tt/1S1QBFT
via IFTTT

Music appreciation and music listening in prelingual and postlingually deaf adult cochlear implant recipients.

Music appreciation and music listening in prelingual and postlingually deaf adult cochlear implant recipients.

Int J Audiol. 2016 Apr 4;:1-7

Authors: Moran M, Rousset A, Looi V

Abstract
OBJECTIVE: To explore the music appreciation of prelingually deaf adults using cochlear implants (CIs).
DESIGN: Cohort study. Adult CI recipients were recruited based on hearing history and asked to complete the University of Canterbury Music Listening Questionnaire (UCMLQ) to assess each individual's music listening and appreciation. Results were compared to previous responses to the UCMLQ from a large cohort of postlingually deaf CI recipients.
STUDY SAMPLE: Fifteen prelingually deaf and 15 postlingually deaf adult cochlear implant recipients.
RESULTS: No significant differences were found between the prelingual and postlingual participants for amount of music listening or music listening enjoyment with their CI. Sound quality of common instruments was favourable for both groups, with no significant difference in the pleasantness/naturalness of instrument sounds between the groups. Prelingually deaf CI recipients rated themselves as significantly less able to follow a melody line and identify instrument styles compared to their postlingual peers.
CONCLUSIONS: The results suggest that the pre- and postlingually deaf CI recipients demonstrate equivalent levels of music appreciation. This finding is of clinical importance, as CI clinicians should be actively encouraging all of their recipients to explore music listening as a part of their rehabilitation.

PMID: 27045837 [PubMed - as supplied by publisher]



from #ENT-PubMed via ola Kala on Inoreader http://ift.tt/206ULwn
via IFTTT

Chronic Cervicogenic Tinnitus Rapidly Resolved by Intermittent Use of Cervical Collar.

Chronic Cervicogenic Tinnitus Rapidly Resolved by Intermittent Use of Cervical Collar.

Front Psychiatry. 2016;7:43

Authors: Bechter K, Wieland M, Hamann GF

Abstract
INTRODUCTION: Cervicogenic tinnitus is not a generally accepted pathogenetic subtype, which might be subsumed under the concept of somatosensory tinnitus. After the personal experience of therapy-resistant tinnitus in context with a cervical pain syndrome (CPS) and successful add-on treatment with cervical collar (CC), the idea was pursued in several individual treatments in patients.
PATIENTS AND METHODS: Reporting one particular case with chronic tinnitus, considered untreatable, that rapidly improved with exclusive treatment by CC use. Thereafter, tinnitus was experimentally replicated by head inclination, the respective neck-head angles, and cerebral blood flow was measured.
RESULTS: Chronic subjective tinnitus of a 20 years duration completely disappeared within 4 weeks with an intermittent short time application of CC. Thereafter, tinnitus was deliberately again induced by head inclination, set on with anterior tilt of 14°, reaching maximum strength by 23°. Tinnitus stopped with return to neutral head position. Blood flow in the vertebral arteries on both sides was unchanged during head inclination with prevalent tinnitus; however, blood flow was physiologically reduced with head rotation though not accompanied by tinnitus.
DISCUSSION: In a single case of chronic tinnitus, we found that treatment with CC rapidly led to full remission. Blood flow reduction in vertebral arteries was unrelated to tinnitus. However, tinnitus could be resumed by constrained head postures. Experimental tinnitus replication (by inclination) points to an underscored role of upper posterior cervical muscle groups, matching with animal experiments, also in concert with other triggers including psychological factors.

PMID: 27047399 [PubMed - as supplied by publisher]



from #ENT-PubMed via ola Kala on Inoreader http://ift.tt/1SbgHQA
via IFTTT

The use of hyperbaric oxygen treatment for sudden sensorineural hearing loss in Europe.

The use of hyperbaric oxygen treatment for sudden sensorineural hearing loss in Europe.

Diving Hyperb Med. 2016 Mar;46(1):43-6

Authors: Uzun G, Mutluoglu M, Metin S

Abstract
BACKGROUND: The aim of this study was to identify the practice differences in the use of hyperbaric oxygen treatment (HBOT) for sudden sensorineural hearing loss (SSNHL) in Europe.
MATERIALS AND METHODS: A questionnaire comprising nine questions was built using the surveymonkey.com website. The medical directors of hyperbaric centres in Europe were invited by e-mail to complete the survey.
RESULTS: A total of 192 centres were invited to participate, of which 80 (41.6%) from 25 countries responded. Of these, 70 were using HBOT for SSNHL. The number of patients with SSNHL treated in these centres over a 12-month period ranged from 2 to 150 (mean 34, median 18). The majority of these centres (44 of 60) were accepting patients if they applied within 30 days of SSNHL diagnosis; 26 of these 60 centres were also treating patients presenting with tinnitus in isolation. The number of treatments ranged from five to 40 (mean 19, median 20). Forty-three of 56 centres used one session a day, whilst 13 reported using twice daily sessions for at least part of the HBOT course. Treatment duration varied between 60 and 140 minutes, and treatment pressure between 151 and 253 kPa.
CONCLUSION: This study has documented a wide range of approaches to the treatment of SSNHL with HBOT across Europe.

PMID: 27044462 [PubMed - in process]



from #ENT-PubMed via ola Kala on Inoreader http://ift.tt/1WbViwN
via IFTTT

Compound heterozygous GJB2 mutations associated to a consanguineous Han family with autosomal recessive non-syndromic hearing loss.

Compound heterozygous GJB2 mutations associated to a consanguineous Han family with autosomal recessive non-syndromic hearing loss.

Acta Otolaryngol. 2016 Apr 4;:1-4

Authors: Xia H, Xu H, Deng X, Yuan L, Xiong W, Yang Z, Deng H

Abstract
CONCLUSION: This study demonstrates that the gap junction protein beta-2 gene (GJB2) p.R32C and p.L79Cfs*3 variants are associated to a consanguineous family with autosomal recessive non-syndromic hearing loss (ARNSHL). The p.R32C variant is found for the first time in the NSHL patients of Han Chinese origin. The finding sheds new light on the accurate genetic diagnosis and counseling for the family.
OBJECTIVE: ARNSHL is a highly heterogeneous genetic disease. ARNSHL usually displays non-progressive congenital or pre-lingual deafness. In this study, the aim is to detect the disease-causing mutation(s) in a Han family with ARNSHL.
METHODS: A consanguineous Han family with ARNSHL was enrolled. Two hundred ethnicity-matched unrelated subjects without any hearing impairments were used as normal controls. Exome sequencing and Sanger sequencing were applied to identify the causative mutation in the ARNSHL family.
RESULTS: Compound heterozygous variants c.94C > T (p.R32C) and c.235delC (p.L79Cfs*3) in the GJB2 gene were identified in the two patients of the ARNSHL family, and the heterozygous GJB2 c.94C > T and c.235delC variants were identified in his unaffected father and mother, respectively. The two variants in the GJB2 gene were absent in the 200 unrelated controls.

PMID: 27045574 [PubMed - as supplied by publisher]



from #ENT-PubMed via ola Kala on Inoreader http://ift.tt/1WbOIGx
via IFTTT

Auditory brainstem response - a valid and cost-effective screening tool for vestibular schwannoma?

Auditory brainstem response - a valid and cost-effective screening tool for vestibular schwannoma?

Acta Otolaryngol. 2016 Apr 4;:1-3

Authors: Rafique I, Wennervaldt K, Melchiors J, Caye-Thomasen P

Abstract
CONCLUSION: Contemporary auditory brainstem response (ABR) is not valid as a screening tool for VS, when considering the sensitivity of 80%, the specificity of 77%, and the positive predictive value of 3.4%, MRI screening is superior to ABR in Denmark when considering cost-effectiveness.
OBJECTIVES: The aim of this study is to assess the sensitivity, specificity, and cost-effectiveness of ABR vs MRI, when screening for VS in a clinical setting.
METHOD: Data was collected on all patients subjected to an ABR during a 3-year period (2005-2008) at a tertiary referral center. The data were compared to results of MRI and with data from The Danish National VS Database. In total, 1447 adults underwent ABR, of whom 349 were referred for a subsequent MRI. Sensitivity and specificity were calculated. To assess the cost-effectiveness of ABR vs MRI, procedure costs for ABR and MRI were retrieved from the National Board of Health.
RESULTS: Twelve (3.4%) of 349 patients were diagnosed with a VS. Of the 1098 patients not referred for MRI, three (0.3%) were later diagnosed with a VS. The sensitivity and specificity of ABR in diagnosing a VS were 80% and 77%, respectively. Procedure costs were 326 EURO for the ABR and 319 EURO for the MRI.

PMID: 27045378 [PubMed - as supplied by publisher]



from #ENT-PubMed via ola Kala on Inoreader http://ift.tt/1PTtTbu
via IFTTT

Identification of two recurrent mutations of COL1A1 gene in Chinese Van der Hoeve syndrome patients.

Identification of two recurrent mutations of COL1A1 gene in Chinese Van der Hoeve syndrome patients.

Acta Otolaryngol. 2016 Apr 4;:1-6

Authors: Duan H, Yan Z, Lu Y, Cheng J, Zhang D, Yuan H, Han D

Abstract
CONCLUSION: The two discovered mutations in COL1A1 gene, although first reported in China, are recurrent ones that have also been found elsewhere in type I osteogenesis imperfecta patients, suggesting their role in pathogenesis of Van der Hoeve syndrome.
OBJECTIVES: The aim of this study is to find mutational patterns of COL1A1 gene that may account for the putative Van der Hoeve syndrome in the patients carrying symptoms of osteogenesis imperfecta, blue sclera, and conductive deafness.
METHOD: Genomic DNA was extracted from the blood of each patient and exons of COL1A1 gene were amplified using PCR and sequenced.
RESULTS: Sequencing in some of the two family members revealed point mutations in exon 26 (c.1792C > T) and exon 43 (c.3076C > T) of COL1A1 gene, respectively.

PMID: 27044453 [PubMed - as supplied by publisher]



from #ENT-PubMed via ola Kala on Inoreader http://ift.tt/1WbOIqb
via IFTTT

Response to "A Revision in Evaluating the Results of Intratympanic Otoprotective Injections against Cisplatin-Induced Ototoxicity".

Response to "A Revision in Evaluating the Results of Intratympanic Otoprotective Injections against Cisplatin-Induced Ototoxicity".

Otolaryngol Head Neck Surg. 2016 Apr;154(4):775-6

Authors: Naples J, Parham K

PMID: 27045114 [PubMed - in process]



from #ENT-PubMed via ola Kala on Inoreader http://ift.tt/1WbRr2G
via IFTTT

Highlights from the Current Issue: April 2016.

Highlights from the Current Issue: April 2016.

Otolaryngol Head Neck Surg. 2016 Apr;154(4):579-80

Authors: Krouse JH

PMID: 27045110 [PubMed - in process]



from #ENT-PubMed via ola Kala on Inoreader http://ift.tt/1WbRoE2
via IFTTT

Successful endovascular management of venous sinus thrombosis complicating trans-labyrinthine removal of vestibular schwanomma.

Successful endovascular management of venous sinus thrombosis complicating trans-labyrinthine removal of vestibular schwanomma.

Am J Otolaryngol. 2016 Feb 5;

Authors: Manzoor NF, Ray A, Singer J, Nord R, Sunshine J, Megerian CA, Bambakidis NC, Semaan MT

Abstract
Cerebral venous sinus thrombosis (CVST) is a rare complication of surgical treatment of vestibular schwanomma. We present a rare case of extensive venous sinus thrombosis after trans-labyrinthine approach that was refractory to systemic anti-coagulation. Mechanical aspiration thrombectomy was utilized to re-canalize the venous sinuses and resulted in successful resolution of neurological symptoms. Indications of utilizing endovascular approaches are discussed that will enable skull base surgeons to address this uncommon yet potentially fatal complication.

PMID: 27045766 [PubMed - as supplied by publisher]



from #ENT-PubMed via ola Kala on Inoreader http://ift.tt/1PTwfHd
via IFTTT

Transantral endoscopic approach for the treatment of lesions affecting the maxillary nerve.

Transantral endoscopic approach for the treatment of lesions affecting the maxillary nerve.

Acta Neurochir (Wien). 2016 Apr 5;

Authors: Pérez de San Román-Mena L, Simal-Julián JA, Miranda-Lloret P, Botella-Asunción C

Abstract
BACKGROUND: Surgical approaches to skull base lesions that affect the maxillary nerve are complex, due to deep location and presence of relevant neurovascular structures surrounding this area.
METHOD: We propose the transantral endoscopic approach (TEA) for the treatment of lesions affecting the maxillary nerve or its vicinity. More specifically, the ones that are located anterior to the foramen rotundum.
CONCLUSIONS: This technique represents a minimally invasive treatment option for these kind of cranial base lesions. It offers optimal visualisation similar to the endonasal approach, whereas less dissection is required.

PMID: 27044284 [PubMed - as supplied by publisher]



from #ENT-PubMed via ola Kala on Inoreader http://ift.tt/1WbRn2W
via IFTTT

Compound heterozygous GJB2 mutations associated to a consanguineous Han family with autosomal recessive non-syndromic hearing loss.

Compound heterozygous GJB2 mutations associated to a consanguineous Han family with autosomal recessive non-syndromic hearing loss.

Acta Otolaryngol. 2016 Apr 4;:1-4

Authors: Xia H, Xu H, Deng X, Yuan L, Xiong W, Yang Z, Deng H

Abstract
CONCLUSION: This study demonstrates that the gap junction protein beta-2 gene (GJB2) p.R32C and p.L79Cfs*3 variants are associated to a consanguineous family with autosomal recessive non-syndromic hearing loss (ARNSHL). The p.R32C variant is found for the first time in the NSHL patients of Han Chinese origin. The finding sheds new light on the accurate genetic diagnosis and counseling for the family.
OBJECTIVE: ARNSHL is a highly heterogeneous genetic disease. ARNSHL usually displays non-progressive congenital or pre-lingual deafness. In this study, the aim is to detect the disease-causing mutation(s) in a Han family with ARNSHL.
METHODS: A consanguineous Han family with ARNSHL was enrolled. Two hundred ethnicity-matched unrelated subjects without any hearing impairments were used as normal controls. Exome sequencing and Sanger sequencing were applied to identify the causative mutation in the ARNSHL family.
RESULTS: Compound heterozygous variants c.94C > T (p.R32C) and c.235delC (p.L79Cfs*3) in the GJB2 gene were identified in the two patients of the ARNSHL family, and the heterozygous GJB2 c.94C > T and c.235delC variants were identified in his unaffected father and mother, respectively. The two variants in the GJB2 gene were absent in the 200 unrelated controls.

PMID: 27045574 [PubMed - as supplied by publisher]



from #ENT-PubMed via ola Kala on Inoreader http://ift.tt/1WbOIGx
via IFTTT

Auditory brainstem response - a valid and cost-effective screening tool for vestibular schwannoma?

Auditory brainstem response - a valid and cost-effective screening tool for vestibular schwannoma?

Acta Otolaryngol. 2016 Apr 4;:1-3

Authors: Rafique I, Wennervaldt K, Melchiors J, Caye-Thomasen P

Abstract
CONCLUSION: Contemporary auditory brainstem response (ABR) is not valid as a screening tool for VS, when considering the sensitivity of 80%, the specificity of 77%, and the positive predictive value of 3.4%, MRI screening is superior to ABR in Denmark when considering cost-effectiveness.
OBJECTIVES: The aim of this study is to assess the sensitivity, specificity, and cost-effectiveness of ABR vs MRI, when screening for VS in a clinical setting.
METHOD: Data was collected on all patients subjected to an ABR during a 3-year period (2005-2008) at a tertiary referral center. The data were compared to results of MRI and with data from The Danish National VS Database. In total, 1447 adults underwent ABR, of whom 349 were referred for a subsequent MRI. Sensitivity and specificity were calculated. To assess the cost-effectiveness of ABR vs MRI, procedure costs for ABR and MRI were retrieved from the National Board of Health.
RESULTS: Twelve (3.4%) of 349 patients were diagnosed with a VS. Of the 1098 patients not referred for MRI, three (0.3%) were later diagnosed with a VS. The sensitivity and specificity of ABR in diagnosing a VS were 80% and 77%, respectively. Procedure costs were 326 EURO for the ABR and 319 EURO for the MRI.

PMID: 27045378 [PubMed - as supplied by publisher]



from #ENT-PubMed via ola Kala on Inoreader http://ift.tt/1PTtTbu
via IFTTT

Identification of two recurrent mutations of COL1A1 gene in Chinese Van der Hoeve syndrome patients.

Identification of two recurrent mutations of COL1A1 gene in Chinese Van der Hoeve syndrome patients.

Acta Otolaryngol. 2016 Apr 4;:1-6

Authors: Duan H, Yan Z, Lu Y, Cheng J, Zhang D, Yuan H, Han D

Abstract
CONCLUSION: The two discovered mutations in COL1A1 gene, although first reported in China, are recurrent ones that have also been found elsewhere in type I osteogenesis imperfecta patients, suggesting their role in pathogenesis of Van der Hoeve syndrome.
OBJECTIVES: The aim of this study is to find mutational patterns of COL1A1 gene that may account for the putative Van der Hoeve syndrome in the patients carrying symptoms of osteogenesis imperfecta, blue sclera, and conductive deafness.
METHOD: Genomic DNA was extracted from the blood of each patient and exons of COL1A1 gene were amplified using PCR and sequenced.
RESULTS: Sequencing in some of the two family members revealed point mutations in exon 26 (c.1792C > T) and exon 43 (c.3076C > T) of COL1A1 gene, respectively.

PMID: 27044453 [PubMed - as supplied by publisher]



from #ENT-PubMed via ola Kala on Inoreader http://ift.tt/1WbOIqb
via IFTTT