scholarly journals HOXA1 Mutations are Not Commonly Associated with Non-Syndromic Deafness

2014 ◽  
Vol 41 (4) ◽  
pp. 448-451 ◽  
Author(s):  
Khaled K. Abu-Amero ◽  
Abdulrahman al Hagr ◽  
Murad O. Almomani ◽  
Taif Anwar Azad ◽  
Ibrahim A. Alorainy ◽  
...  
Keyword(s):  
Middle Eastern ◽  
Cranial Nerves ◽  
Sensorineural Deafness ◽  
Semicircular Canals ◽  
Developmental Abnormalities ◽  
Vestibular Aqueduct ◽  
Profound Deafness ◽  
Middle Eastern Population ◽  
Ear Anomalies ◽  
Medical Examinations

Objective:Homozygous homeobox A1 (HOXA1) mutations cause a spectrum of abnormalities in humans including bilateral profound deafness. This study evaluates the possible role of HOXA1 mutations in familial, non-syndromic sensorineural deafness.Methods:Forty-eight unrelated Middle Eastern families with either consanguinity or familial deafness were identified in a large deafness clinic, and the proband from each family was evaluated by chart review, audiogram, neuroimaging, and HOXA1 sequencing.Results:All 48 probands had normal neuro-ophthalmologic and general medical examinations except for refractive errors. All had congenital non-syndromic sensorineural hearing loss that was symmetric bilaterally and profound (>90 dBHL) in 33 individuals and varied from 40 to 90 dBHL in the remainder. Thirty-nine of these individuals had neuroimaging studies, all documenting normal internal carotid arteries and normal 6th, 7th, and 8th cranial nerves bilaterally. Of these, 27 had normal internal ear structures with the remaining 12 having mild to modest developmental abnormalities of the cochlea, semicircular canals, and/or vestibular aqueduct. No patient had homozygous HOXA1 mutations.Conclusions:None of these patients with non-syndromic deafness had HOXA1 mutations. None had major inner ear anomalies, obvious cerebrovascular defects, or recognized congenital heart disease. HOXA1 is likely not a common cause of non-syndromic deafness in this Middle Eastern population.

scholarly journals The Spectrum and Frequency of Inner Ear Anomalies in Patients with Congenital Hearing Impairment in Yakutia

2020 ◽  
Vol 101 (2) ◽  
pp. 90-102
Author(s):  
L. A. Klarov ◽  
N. A. Barashkov ◽  
F. M. Teryutin ◽  
G. P. Romanov ◽  
M. M. Popov ◽  
...  
Keyword(s):  
Inner Ear ◽  
Hearing Impairment ◽  
Temporal Bone ◽  
Semicircular Canals ◽  
Internal Auditory Meatus ◽  
X Ray ◽  
Vestibular Aqueduct ◽  
Incomplete Partition ◽  
Ear Anomalies ◽  
Congenital Hearing Impairment

Objective. To analyze the spectrum and frequency of inner ear anomalies in patients with congenital hearing impairment in Yakutia.Material and methods. A total of 165 patients with congenital hearing impairment were surveyed. All the patients were examined by an audiologist, an educational audiologist, and a neuropsychiatrist. All the patients underwent X-ray computed tomography (X-ray CT) of temporal bone structures (which was supplemented by magnetic resonance imaging (MRI) in some cases).Results. Based on modern ideas about inner ear anomalies and their classification, the authors first analyzed the spectrum and frequency of inner ear anomalies in patients with congenital hearing impairment in Yakutia. Inner ear malformations were identified in 16 (9.7%) of the 165 patients with hearing impairment, which corresponds to that in the previously studied samples of deaf people in different countries (from 3% to 35%). Of the inner ear structures, the cochlea and vestibule were more commonly affected. Abnormalities of the internal auditory meatus, semicircular canals, and vestibular aqueduct were less common. In general, the spectrum of anomalies was represented by 7 different malformations. Incomplete partition type II (IP-II) (34.3%) came first in incidence among all the abnormalities. Incomplete partition type III (IP-III) (18.7%) ranked second in incidence. The expansion of the internal auditory meatus (12.5%) and vestibular aqueduct (12.5%) occupied the third place. Inner ear anomalies occurred as concurrences that are difficult to interpret and classify in half (50%) of all the cases.Conclusion. Analysis of the spectrum and frequency of temporal bone abnormalities in Yakutia suggests that every 10 patients with congenital hearing impairment have one or another inner ear structural malformation (9.7%) and require accurate and timely diagnosis using up-to-date X-ray CT and MRI techniques.

scholarly journals REPRODUCTIBILITY OF A METABOLITE RISK SCORE TO PREDICT CORONARY HEART DISEASE IN A MIDDLE EASTERN POPULATION

2021 ◽  
Vol 77 (18) ◽  
pp. 107
Author(s):  
Ayman El-Menyar ◽  
Ehsan Ullah ◽  
Khalid Kunji ◽  
Reem Elsousy ◽  
Amna Al-Nesf ◽  
...  
Keyword(s):  
Coronary Heart Disease ◽  
Heart Disease ◽  
Risk Score ◽  
Middle Eastern ◽  
Eastern Population ◽  
Middle Eastern Population

scholarly journals TERT promoter mutations in thyroid cancer: a report from a Middle Eastern population

2015 ◽  
Vol 22 (6) ◽  
pp. 901-908 ◽  
Author(s):  
Ebtesam Qasem ◽  
Avaniyapuram Kannan Murugan ◽  
Hindi Al-Hindi ◽  
Mingzhao Xing ◽  
Mai Almohanna ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Middle East ◽  
Direct Sequencing ◽  
Tumour Size ◽  
Middle Eastern ◽  
Middle Eastern Population ◽  
Thyroid Adenomas ◽  
Cell Variant ◽  
Hürthle Cell Thyroid Cancer ◽  
Promoter Mutations

Telomerase reverse transcriptase (TERT) promoter mutations C228T and C250T have recently been described in follicular cell-derived thyroid cancer (TC) in patients from North America and Europe. In this study, we explored whether these findings could be replicated in patients from a different ethnic group. We screened 17 benign thyroid adenomas and 265 TC samples from patients in the Middle East for these mutations by PCR and direct sequencing using DNA isolated from paraffin-embedded tumor tissues. None of the 17 benign adenomas harbored TERT promoter mutations. Of 265 TC, 34 (12.8%) harbored TERT promoter mutations, including 10/153 (6.5%) conventional papillary TC (CPTC), 8/57 (14.0%) follicular variant PTC, 9/30 (30%) tall cell variant PTC, 1/3 (30%) Hurthle cell thyroid cancer (HTC), 1/5 (20%) follicular TC, and 5/13 (38.5%) poorly differentiated TC. C250T mutation was present in only 6/265 (2.3%) cases, while C228T mutation was present in a total of 28/265 (10.6%) cases. These two mutations were mutually exclusive. TERT promoter mutations were significantly more common in older (≥45 years) than younger patients and were associated with larger tumour size, vascular invasion, higher TNM stage (stage III and IV), BRAFV600E mutation and persistent/recurrent disease at 6–12 months after initial treatment and at the last follow up. These associations were stronger in non-CPTC. Thus, this study on a large cohort of TC patients from Middle East demonstrates that TERT promoter mutations are relatively common, especially in the non-CPTC, and are associated with more aggressive histopathological features, BRAFV600E mutation, and disease persistence/recurrence than the WT TERT.

scholarly journals Cochlear implantation: a review of the literature and the Nijmegen results

1997 ◽  
Vol 111 (11) ◽  
pp. 1008-1017 ◽  
Author(s):  
Mohammad Jamal A. Makhdoum ◽  
Ad F. M. Snik ◽  
Paul van den Broek
Keyword(s):  
Cochlear Implant ◽  
Hearing Aids ◽  
Cochlear Implantation ◽  
Sensorineural Deafness ◽  
Deaf Children ◽  
Subject Selection ◽  
Profound Deafness ◽  
Deaf Adults ◽  
Adults And Children ◽  
To Receive

AbstractThe field of cochlear implantation is developing rapidly. In subjects with bilateral profound deafness who gain no benefit from conventional hearing aids the aim of cochlear implantation is to provide a means for them to receive auditory sensations. Throughout the world, most cochlear implant centres are still continuing their research efforts to improve the results with this technique. Although it is still difficult to predict how an individual will perform with a cochlear implant, the success of cochlear implantation can no longer be denied. In this paper, we review some recent papers and reports, and the results of the various Nijmegen cochlear implant studies. Data about subject selection, examinations, surgery and the outcome are discussed. Our results were in good agreement with those of other authors. It can be concluded once again that cochlear implantation is an effective treatment for postlingually deaf adults and children, and for prelingually (congenital or acquired) deaf children with profound bilateral sensorineural deafness.

scholarly journals Validation of the Framingham hypertension risk score in a middle eastern population: Tehran lipid and glucose study (TLGS)

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Fatemeh Koohi ◽  
Ewout W. Steyerberg ◽  
Leila Cheraghi ◽  
Alireza Abdshah ◽  
Fereidoun Azizi ◽  
...  
Keyword(s):  
Simple Model ◽  
Risk Score ◽  
Screening Tool ◽  
Middle Eastern ◽  
Predictive Ability ◽  
Eastern Population ◽  
Hypertension Risk ◽  
Graphical Comparison ◽  
Middle Eastern Population

Abstract Background The Framingham hypertension risk score is a well-known and simple model for predicting hypertension in adults. In the current study, we aimed to assess the predictive ability of this model in a Middle Eastern population. Methods We studied 5423 participants, aged 20–69 years, without hypertension, who participated in two consecutive examination cycles of the Tehran Lipid and Glucose Study (TLGS). We assessed discrimination based on Harrell’s concordance statistic (c-index) and calibration (graphical comparison of predicted vs. observed). We evaluated the original, recalibrated (for intercept and slope), and revised (for beta coefficients) models. Results Over the 3-year follow-up period, 319 participants developed hypertension. The Framingham hypertension risk score performed well in discriminating between individuals who developed hypertension and those who did not (c-index = 0.81, 95% CI: 0.79–0.83). Initially, there was a systematic underestimation of the original risk score (events predicted), which was readily corrected by a simple model revision. Conclusions The revised Framingham hypertension risk score can be used as a screening tool in public health and clinical practice to facilitate the targeting of preventive interventions in high-risk Middle Eastern people.

Role of Computed Tomography and Magnetic Resonance Imaging in detecting the Prevalence of inner ear anomalies among cochlear implant candidates

QJM ◽  
2021 ◽  
Vol 114 (Supplement_1) ◽  
Author(s):  
Alaa Nasser Hussain Zaher ◽  
Tougan Taha Abd El Aziz ◽  
Ahmed Samy Abdelrahman
Keyword(s):  
Magnetic Resonance Imaging ◽  
Computed Tomography ◽  
Hearing Loss ◽  
Cochlear Implant ◽  
Inner Ear ◽  
Resonance Imaging ◽  
High Resolution Computed Tomography ◽  
Vestibular Aqueduct ◽  
Incomplete Partition ◽  
Ear Anomalies

Abstract Background Hearing loss management using cochlear implants in patients with inner ear anomalies has long been discussed in the otology community. Magnetic resonances imaging (B,/IRI) and Computed tomography (CT) play important roles in the preoperative assessment of inner ear abnormalities such as cochlear nerve deficiency and variant anatomy as these abnormalities may not only affect the decision of the implantation procedure or the patient's prognosis regarding auditory improvement, but also the risk of complications. Objective To examine the prevalence of inner ear anomalies among cochlear implant recipients in patients with congenital sensorineural hearing loss among the pediatric age group in the Demerdash hospital, Ain Shams university using High resolution computed tomography (HRCT) and MRI imaging. Methods A retrospective descriptive study over the course of 9 months that included all patients that are candidates for cochlear implant referred to the Radiology department, Ain Shams University Hospitals for a preoperative imaging in the form of CT and VIRI scans. Results CT and MRI scans of 33 patients who had congenital hearing loss and were candidates for cochlear implantation with total 66 ears were reviewed. Inner ear anomalies were identified in 8 patients representing a prevalence (24.2%) with 14 ear diseased. Anomalies were seen bilaterally in 6 patients and unilaterally in 2 patients. Among the 14 diseased ear, 9 ears (64.3%) were seen with incomplete partition Il, 7 ears (50%) were seen with enlarged vestibular aqueduct, 4 ears (28.6%) were seen with cochlear hypoplasia, 3 ears (21.4%) were seen with semicircular canal aplasia, 2 ears (14.3%) were seen with incomplete partition type I, 2 ears (14.3%) were seen with cochlear nerve aplasia, 2 ears with cochlear aplasia (14.3%), I ear (7.1%) was seen with common cavity ear (7.1%) with complete labyrinthine aplasia. Conclusion Prevalence of inner ear anomalies among cochlear implant candidates was 24.2%. This result is consistent with results worldwide and the most common anomalies were Incomplete partition Il and large vestibular aqueduct. Abbreviations Computed tomography (CT), Magnetic resonance imaging (MRI), High resolution computed tomography (HRCT), Internal auditory canal (IAC), Cerebellopontine angle (CPA).

On the vestibular labyrinth of Brachiosaurus brancai

2005 ◽  
Vol 15 (2) ◽  
pp. 65-71
Author(s):  
A.H. Clarke
Keyword(s):  
Body Mass ◽  
Cranial Nerves ◽  
Semicircular Canals ◽  
Upper Jurassic ◽  
Allometric Relationship ◽  
Vestibular Labyrinth ◽  
Extant Species ◽  
Acoustic Nerve ◽  
The Relationship ◽  
Photogrammetric Measurement

The extensive remains of large sauropods, excavated in the Upper Jurassic layers of the Tendaguru region of Tanzania, East Africa by Janensch [15], include an intact fossil cast of a vestibular labyrinth and an endocast of the large Brachiosaurus brancai. The approximately 150 million year old labyrinth cast demonstrates clearly a form and organisation congruent in detail to those of extant vertebrate species. Besides the near-orthogonal arrangement of semicircular canals (SCCs), the superior and inferior branches of the vestibulo-acoustic nerve, the endolymphatic duct, the oval and round windows, and the cochlea can be identified. The orientation of the labyrinth in the temporal bone is also equivalent to that of many extant vertebrates. Furthermore, the existence of the twelve cranial nerves can be identified from the endocast. The present study was initiated after the photogrammetric measurement of the skeleton volume of B. brancai [13] yielded a realistic estimate of body mass (74.42 metric tons). Dimensional analysis shows that body mass and average SCC dimensions of B. brancai generally fit with the allometric relationship found in previous studies of extant species. However, the anterior SCC is significantly larger than the allometric relationship would predict. This would indicate greater sensitivity, supporting the idea that the behavioural repertoire must have included much slower pitch movements of the head. These slower movements would most likely have involved flexion of the neck, rather than head pitching about the atlas joint. Pursuing the relationship between body mass and SCC dimensions further, the SCC frequency response is estimated by scaling up from the SCC dimensions of the rhesus monkey; this yields a range between 0.008–26 Hz, approximately one octave lower than for humans.

scholarly journals Molecular Characterization of Prostate Cancer in Middle Eastern Population Highlights Differences with Western Populations with Prognostic Implication

2019 ◽  
Author(s):  
Ramy A. Abdelsalam ◽  
Ibrahim Khalifeh ◽  
Alan Box ◽  
Maria Kalantarian ◽  
Sunita Ghosh ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Middle Eastern ◽  
Genomic Alteration ◽  
Published Data ◽  
Lower Grade ◽  
Eastern Population ◽  
Western Population ◽  
Pten Loss ◽  
Middle Eastern Population ◽  
Grade Groups

Abstract Background To investigate the incidence and prognostication of ERG, PTEN and SPINK1 protein expressions in prostate cancer cohort of Middle Eastern descent in comparison to published data from Western populationMethods Immunohistochemistry for ERG, PTEN and SPINK1 was performed in cohort of localized PCa (n=340). Data correlated to pathological and clinical outcomes and compared to Western populations.Results ERG expression and PTEN loss noted in 123/288 (42.7%) and 91/297 (30.6%) of patients, respectively. SPINK1 expression assessed in subset of cases, noted in 6/150 (4%) of patients. Only ERG expression was associated with grade groups, being more common in lower grade groups (1-3 vs 4-5; p=0.04). In contrast to Western population, PTEN loss foci were more likely to be ERG negative, observed in 81% of tumor foci and patients with PTEN neg/ERG pos were more likely to exhibit biochemical recurrence (OR 2.831; 95% CI: 1.10-726, p=0.03). This association remained significant in multivariate analysis (OR 2.68; 95% CI: 0.98-7.33, p=0.05), after adjusting for GG, path stage and surgical margin.Conclusion This study documents significant differences in key molecular events in PCa in Middle Eastern population compared to Western populations that could explain differences in PCa incidence, progression and prognostication. ERG, PTEN and SPINK1 genomic alteration occur less frequently and the enrichment of ERG for PTEN loss is not observed. Additionally, patients with combined PTEN loss/ERG positive are at highest rate for BCR vs North American Caucasian population where PTEN loss alone seems to be associated with the worst clinical outcome. The data presented here further support differences in clonal evolution between Middle Eastern and Western population in relation to PCa and add further insight to understanding PCa molecular pathways.

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