scholarly journals Pannexin 1 Transgenic Mice: Human Diseases and Sleep-Wake Function Revision

2021 ◽  
Vol 22 (10) ◽  
pp. 5269
Author(s):  
Nariman Battulin ◽  
Vladimir M. Kovalzon ◽  
Alexey Korablev ◽  
Irina Serova ◽  
Oxana O. Kiryukhina ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Intellectual Disability ◽  
Knockout Mice ◽  
Biological Functions ◽  
Pannexin 1 ◽  
Severe Intellectual Disability ◽  
Clinically Significant ◽  
Passenger Mutation ◽  
Junction Proteins

In humans and other vertebrates pannexin protein family was discovered by homology to invertebrate gap junction proteins. Several biological functions were attributed to three vertebrate pannexins members. Six clinically significant independent variants of the PANX1 gene lead to human infertility and oocyte development defects, and the Arg217His variant was associated with pronounced symptoms of primary ovarian failure, severe intellectual disability, sensorineural hearing loss, and kyphosis. At the same time, only mild phenotypes were observed in Panx1 knockout mice. In addition, a passenger mutation was identified in a popular line of Panx1 knockout mice, questioning even those effects. Using CRISPR/Cas9, we created a new line of Panx1 knockout mice and a new line of mice with the clinically significant Panx1 substitution (Arg217His). In both cases, we observed no significant changes in mouse size, weight, or fertility. In addition, we attempted to reproduce a previous study on sleep/wake and locomotor activity functions in Panx1 knockout mice and found that previously reported effects were probably not caused by the Panx1 knockout itself. We consider that the pathological role of Arg217His substitution in Panx1, and some Panx1 functions in general calls for a re-evaluation.

scholarly journals IQ in children with autism spectrum disorders: data from the Special Needs and Autism Project (SNAP)

2010 ◽  
Vol 41 (3) ◽  
pp. 619-627 ◽  
Author(s):  
T. Charman ◽  
A. Pickles ◽  
E. Simonoff ◽  
S. Chandler ◽  
T. Loucas ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Block Design ◽  
Epidemiological Studies ◽  
Autism Spectrum ◽  
Social Impairment ◽  
Severe Intellectual Disability ◽  
Average Intelligence ◽  
Sample Weighting ◽  
Clinically Significant ◽  
Few Data

BackgroundAutism spectrum disorder (ASD) was once considered to be highly associated with intellectual disability and to show a characteristic IQ profile, with strengths in performance over verbal abilities and a distinctive pattern of ‘peaks’ and ‘troughs’ at the subtest level. However, there are few data from epidemiological studies.MethodComprehensive clinical assessments were conducted with 156 children aged 10–14 years [mean (s.d.)=11.7 (0.9)], seen as part of an epidemiological study (81 childhood autism, 75 other ASD). A sample weighting procedure enabled us to estimate characteristics of the total ASD population.ResultsOf the 75 children with ASD, 55% had an intellectual disability (IQ<70) but only 16% had moderate to severe intellectual disability (IQ<50); 28% had average intelligence (115>IQ>85) but only 3% were of above average intelligence (IQ>115). There was some evidence for a clinically significant Performance/Verbal IQ (PIQ/VIQ) discrepancy but discrepant verbalversusperformance skills were not associated with a particular pattern of symptoms, as has been reported previously. There was mixed evidence of a characteristic subtest profile: whereas some previously reported patterns were supported (e.g. poor Comprehension), others were not (e.g. no ‘peak’ in Block Design). Adaptive skills were significantly lower than IQ and were associated with severity of early social impairment and also IQ.ConclusionsIn this epidemiological sample, ASD was less strongly associated with intellectual disability than traditionally held and there was only limited evidence of a distinctive IQ profile. Adaptive outcome was significantly impaired even for those children of average intelligence.

scholarly journals Role of LASER Stapedotomy in clinical improvement in subjective tinnitus among patients with Otosclerosis- a retrospective analysis

2021 ◽  
Vol VOLUME 9 (ISSUE 1) ◽  
pp. 1-5
Author(s):  
Swati Suneha
Keyword(s):  
Hearing Loss ◽  
High Frequency Hearing Loss ◽  
Mean Values ◽  
Subjective Tinnitus ◽  
Effective Treatment Modality ◽  
Hearing Thresholds ◽  
The Mean ◽  
Clinically Significant ◽  
Air Conduction

Objective: To determine the prevalence and severity of subjective tinnitus in patients undergoing LASER stapedotomy at the Department of Otorhinolaryngology, AIIMS Patna. To evaluate the efficacy of LASER stapedotomy in clinically significant improvement in tinnitus in these patients Materials and methods: A retrospective study was conducted on 40 patients who underwent LASER stapedotomy from February 2018 to December 2019 at the Department of Otorhinolaryngology, AIIMS Patna. Pre- and post-operative audiological and tinnitus assessment was done. Hospital records were analyzed and otosclerotic patients with subjective tinnitus were included in the study. Prevalence and severity of tinnitus and accompanying degree of hearing loss across both genders were noted. Improvement in tinnitus postoperatively was evaluated. Results were analyzed using IBM SPSS Statistics software Version 20. Mean values were calculated and paired t-tests were applied to assess the role of LASER stapedotomy on tinnitus improvement. Results: Out of a total of 40 stapedotomy patients, 29 (72.50%) had tinnitus at presentation. The mean age of these patients was 29.59±9.3 years. The mean gain in air conduction threshold (ACT) and air-bone gap (ABG) closure was 19.68 dB and 12.14 dB respectively. Unilateral tinnitus was seen in 55.17% and bilateral in 44.83% of patients. High-frequency hearing loss was found in 65.51% of patients. Postoperatively, 44.83% of patients experienced a complete resolution in tinnitus, while all of them had an improvement in tinnitus severity. This result was similar in both males and females. Conclusion: Tinnitus is a frequent complaint of patients suffering from otosclerosis, which often takes a backseat in the treatment goals of a surgeon. It varies in severity and duration and is associated with a progressive worsening of hearing thresholds. LASER stapedotomy is an effective treatment modality, which not only improves post-operative hearing but also alleviates tinnitus to a great extent. Study design: A retrospective observational study Keywords: Otosclerosis. Tinnitus, LASER stapedotomy, Air Bone Gap (ABG)

Moderating Role of Stress, Anxiety, and Depression in the Relationship Between Tinnitus and Hearing Loss Among Patients

2020 ◽  
Vol 34 (4) ◽  
pp. 753-772
Author(s):  
Ammar Ahmed ◽  
Muhammad Aqeel ◽  
Tanvir Akhtar ◽  
Sammeen Salim ◽  
Bashir Ahmed
Keyword(s):  
Hearing Loss ◽  
Psychological Problems ◽  
Anxiety And Depression ◽  
Adaptation Level ◽  
Depression Anxiety Stress Scale ◽  
Neuropsychological Theory ◽  
Anxiety Depression ◽  
The Relationship ◽  
Moderating Role

Adaptation level theory of tinnitus and neuropsychological theory of tinnitus are extensively used frameworks for understanding emotional and psychological distress among tinnitus sufferers. Objective of the present study was to investigate potential associations between hearing loss, tinnitus, anxiety, depression, and stress. The Tinnitus Handicap Inventory (Newman, Jacobson, & Spitzer, 1996) and the Depression, Anxiety, Stress Scale (Lovibond & Lovibond, 1995)scales were administered to a sample of 110 tinnitus outpatients recruited from Audiology departments of Lahore and Rawalpindi hospitals. Results revealed tinnitus was positively linked with psychological problems. Additionally, it was established that tinnitus is a positive significant predictor for anxiety, stress and depression. The moderation models related to the interactions between psychological problems and hearing loss were negative significant predictors for tinnitus symptoms. Moreover, the comparative analysis between gender differences revealed a significant diversity in the levels of stress, anxiety, and depression. Results also elucidated that patients at initial stages of hearing loss were more prone towards reporting tinnitus symptoms along with emerging psychological problems.

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