Early Disruption of Photoreceptor Cell Architecture and Loss of Vision in a Humanized Pig Model of Usher Syndrome

Usher syndrome (USH) is the most common form of monogenic deaf-blindness. Loss of vision is untreatable and, so far, there are no suitable animal models for testing therapeutic strategies. By introducing a human mutation into the harmonin-encoding USH1C gene in pigs, we generated the first translational animal model for USH type 1 with characteristic hearing defect, vestibular dysfunction and visual impairment. Changes in photoreceptor architecture, quantitative motion analysis and electroretinography were characteristics of the reduced retinal virtue in USH1C pigs. Primary cells from those animals and USH1C patients showed significantly elongated primary cilia, compared to wild-type, confirming the nature of USH as a true and general ciliopathy and proving the therapeutic capacity of gene supplementation and gene repair approaches.

Prevalence of the use of Hearing Aid Compared to the use of Seeing Aid among Nigerian Youths

Needed attention has not been paid to hearing defects and the use of hearing aids compared to the enormous attention given to visual problems. This study aimed to compare the prevalence of visual defect to hearing defect and by extension the frequency of use of medicated glasses compared to the use of hearing aid. A total of 500 questionnaires were distributed randomly among students of Nnamdi Azikiwe University, Nnewi campus. Four hundred and seventy eight was retrieved, out of which 11 were disqualified due to improper filling, leaving us with a total of 467 properly filled questionnaires (representing 93.4% of the total number). Results were computed in simple percentages. Our results show that only 1.5% of the study population reported positive for hearing defect. Out of this number, only one respondent uses a hearing aid (representing 0.21% of the population). This is unlike seeing defect in which 117 (25.05% of total population) reported positive and 41.81% of them attested to the use of medicated glasses (representing 15.85% of the total population). All subjects who had hearing defects are aged between 15 and 25 (15-20 = 57.14%; 21-25 = 42.86%). This is similar to the case of seeing defects where the majority (70%) is aged 15-20 and 26% are aged 21-25, totally 96% of cases. We believe the enormity of persons subscribing to seeing aids are so because of massive awareness and affordability of medicated glasses, which in some cases is made available at no cost to the patient. The lack of data on persons with hearing defect in the country as well as the lack of publicity and investment in hearing aids has contributed greatly to the lack of interest and unwillingness on the part of patients to reach for hearing aids. Our results also show that females reported more both for hearing defects and seeing defect relative to their number. We therefore propose a better information system in which hearing aids are not only made available but also affordable and the masses are rigorously enlightened as to the health and social benefits.

TO ASSESS THE ADVERSE EFFECT PROFILE OF SECOND LINE DRUG IN MDR TB PATIENTS

Method: Study including LPA /AFB CULTURE proven cases of MDR TB. Data will be collected from the patient attending the OPD & IPD in the Dept. of Respiratory Medicine. Result: Out of 200 patients 71% were of male its shows that MDR T.B. more prevalent among males and female 29%. Out of 200 patients most of the patients come under 10-15 Kg/m2 BMI, so its shows that 64.5% patients comes it and disease more prevalent among under nutrition. Out of 200 patients, the present study shows that gastrointestinal side effects are the most common 42%. 09 patients have renal toxicity and 08 patients have Arthalgia and 06 patients have cutaneous reactions and 11 patients developed hepatitis and 07 patients have some psychiatric illness and 07 patients developed hearing defect. Conclusion: The present study shows that gastrointestinal side effects are the most common 42%. 09 patients have renal toxicity and 08 patients have Arthalgia and 06 patients have cutaneous reactions and 11 patients developed hepatitis and 07 patients have some psychiatric illness and 07 patients developed hearing defect. Overall, these findings emphasize the importance of continuing the systematic surveillance of M. tuberculosis isolates to monitor the trends of drug resistance in different patient categories. Keywords: Adverse, Second line & MDR TB.

TO ASSESS THE ADVERSE EFFECT PROFILE OF SECOND LINE DRUG IN TB PATIENTS

Background: A retrospective and prospective study including LPA /AFB CULTURE proven cases of MDR TB. Data will be collected from the patient attending the OPD & IPD in the Dept. of Respiratory Medicine Index Medical College, Indore. Result: Out of 226 patients, 183 patients continue on treatment and 8 patients get cure and 12 patients dead and 12 patients defaulted the treatment. Out of 226 patients, the present study shows that Gastrointestinal side effects are the most common 42.5%. 12 patients have renal toxicity and 8 patients have Arthalgia and 6 patients have cutaneous reactions and 14 patients developed hepatitis and 7 patients have some psychiatric illenss and 7 patients developed hearing defect. Conclusion: Overall, these findings emphasize the importance of continuing the systematic surveillance of M. tuberculosis isolates to monitor the trends of drug resistance in different patient categories as well as its association with HIV across the country to timely modify and strengthen the national programs in order to prevent the emergence of MDR-TB strains and avert the threat of XDR-TB. Keywords: Profile, second Line Drug & TB.

Risk factors of hearing defects and their relationship to the outcome of hearing screening among neonates

Background: Increased exposure to risk factors of hearing loss leads to a high susceptibility to deafness among neonates admitted to neonatal care units in developing countries. Objective: This article aims to study the prevalence of risk factors for neonatal hearing defect and determine their effect on the result of transient evoked otoacoustic emissions hearing test ( TEOAE). Methods: A longitudinal study was carried out for a period of one year from 1st October, 2016 to 30 th September, 2017 in the CWTH, Medical city, Baghdad, Iraq Demographic characteristics and certain risk factors were recorded for screened neonates. TEOAE test was done and if they failed to pass two steps, they were referred to autom ated auditory brainstem - response (AABR). Results: Out of 400 neonates, 342 (85.5%) passed from step 1TEOAE, while 58 (14.5%) were referred to step 2. From 58, 26 (44.8%) have passed step 2 and 32 (55.2%) not pass step 2 and were referred to AABR. From those 32 neonates with suspected hearing defect, NICU stay >7 days, ototoxic drugs >7days, use of ventilator >7 days, birth weight <1500gm, and craniofacial malformations were the main risk factors for hearing defects occurring in (90.6%), (90.6%), (59.4%), (40.6%), and (21.9%) respectively. Conclusions: Low birth weight , long intensive care stay, mechanical ventilation, drugs ototoxicity and craniofacial malformation of neonates are the main risk factors for failed TEOAE test

Urocortin-Deficient Mice Display Normal Stress-Induced Anxiety Behavior and Autonomic Control but an Impaired Acoustic Startle Response

ABSTRACT Corticotropin-releasing hormone (Crh) plays an important role in modulating physiological and behavioral responses to stress. Its actions are mediated through two receptors, Crhr1 and Crhr2. Urocortin (Ucn), a Crh-related neuropeptide and the postulated endogenous ligand for Crhr2, is a potential mediator of stress responses. We generated Ucn-deficient mice using embryonic stem cell technology to determine its role in stress-induced behavioral and autonomic responses. Unlike Crhr1- or Crhr2-deficient mice, Ucn-deficient mice exhibit normal anxiety-like behavior as well as autonomic regulation in response to stress. However, the mutant mice display an impaired acoustic startle response that is not due to an obvious hearing defect. Thus, our results suggest that Ucn does not play an essential role in stress-induced behavioral and autonomic responses. Ucn may modulate the acoustic startle response through the Ucn-expressing neuron projections from the region of the Edinger-Westphal nucleus.