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https://www.readbyqxmd.com/read/28926334/family-phenotypic-heterogeneity-caused-by-mitochondrial-dna-mutation-a3243g
#1
Daniela Alves, Maria Eufémia Calmeiro, Carmo Macário, Rosa Silva
Maternally inherited diabetes and deafness is a rare form of diabetes caused by a mitochondrial DNA mutation. The index case is a 55-year-old woman who was admitted with hypertrophic cardiomyopathy. She had a history of diabetes mellitus and hearing loss. The patient's mother, two brothers and two sisters also had a history of diabetes and hearing loss. This pattern suggests a maternally inherited disorder. All siblings carried the A3243G mitochondrial DNA mutation. The identification of people with monogenic forms of diabetes mellitus is a diagnostic challenge...
August 31, 2017: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28925991/a-multiscale-imaging-and-modelling-dataset-of-the-human-inner-ear
#2
Nicolas Gerber, Mauricio Reyes, Livia Barazzetti, Hans Martin Kjer, Sergio Vera, Martin Stauber, Pavel Mistrik, Mario Ceresa, Nerea Mangado, Wilhelm Wimmer, Thomas Stark, Rasmus R Paulsen, Stefan Weber, Marco Caversaccio, Miguel A González Ballester
Understanding the human inner ear anatomy and its internal structures is paramount to advance hearing implant technology. While the emergence of imaging devices allowed researchers to improve understanding of intracochlear structures, the difficulties to collect appropriate data has resulted in studies conducted with few samples. To assist the cochlear research community, a large collection of human temporal bone images is being made available. This data descriptor, therefore, describes a rich set of image volumes acquired using cone beam computed tomography and micro-CT modalities, accompanied by manual delineations of the cochlea and sub-compartments, a statistical shape model encoding its anatomical variability, and data for electrode insertion and electrical simulations...
September 19, 2017: Scientific Data
https://www.readbyqxmd.com/read/28925978/dental-environmental-noise-evaluation-and-health-risk-model-construction-to-dental-professionals
#3
Kuen Wai Ma, Hai Ming Wong, Cheuk Ming Mak
Occupational noise is unavoidably produced from dental equipment, building facilities, and human voices in the dental environment. The purpose of this study was to investigate the effect of occupational noise exposure on the dental professionals' health condition. The psychoacoustics approach noise exposure assessment followed by the health risk assessment was carried on at the paediatric dentistry clinic and the dental laboratory in the Prince Philip Dental Hospital of Hong Kong. The A-weighted equivalent sound level, total loudness, and sharpness values were statistically significantly higher for the noise at the laboratory than that at the clinic...
September 19, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28925974/if-you-build-it-they-will-come-initial-experience-with-a-multi-disciplinary-pediatric-neurocritical-care-follow-up-clinic
#4
Cydni N Williams, Aileen Kirby, Juan Piantino
Pediatric Neurocritical Care diagnoses account for a large proportion of intensive care admissions. Critical care survivors suffer high rates of long-term morbidity, including physical disability, cognitive impairment, and psychosocial dysfunction. To address these morbidities in Pediatric Neurocritical Care survivors, collaboration between Pediatric Neurology and Pediatric Critical Care created a multidisciplinary follow-up clinic providing specialized evaluations after discharge. Clinic referrals apply to all Pediatric Neurocritical Care patients regardless of admission severity of illness...
September 19, 2017: Children
https://www.readbyqxmd.com/read/28925814/evaluation-of-timely-pediatric-cochlear-implant-care-throughout-europe-is-european-cochlear-implantation-care-according-to-guidelines
#5
Hanneke Bruijnzeel, Aren Bezdjian, Anke Lesinski-Schiedat, Angelika Illg, Konstance Tzifa, Luisa Monteiro, Antonio Della Volpe, Wilko Grolman, Vedat Topsakal
OBJECTIVES: International guidelines indicate that children with profound hearing loss should receive a cochlear implant (CI) soon after diagnosis in order to optimize speech and language rehabilitation. Although prompt rehabilitation is encouraged by current guidelines, delays in cochlear implantation are still present. This study investigated whether European countries establish timely pediatric CI care based on epidemiological, commercial, and clinical data. METHODS: An estimation of the number of pediatric CI candidates in European countries was performed and compared to epidemiological (Euro-CIU), commercial (Cochlear(®)), and clinical (institutional) age-at-implantation data...
September 19, 2017: Cochlear Implants International
https://www.readbyqxmd.com/read/28925723/expression-patterns-of-members-of-the-isocitrate-dehydrogenase-gene-family-in-murine-inner-ear
#6
Y-R Kim, K-H Kim, S Lee, S-K Oh, J-W Park, K-Y Lee, J-I Baek, U-K Kim
Age-related hearing loss (ARHL) is characterized by an age-dependent decline of auditory function characterized by with loss of sensory hair cells, spiral ganglion neurons, and stria vascularis (SV) cells in the cochlea of the inner ear. Aging and age-related diseases result from accumulated oxidative damage caused by reactive oxygen species (ROS) generated by mitochondria. The isocitrate dehydrogenase (IDH) family includes three enzymes in human cells: IDH1, IDH2, and IDH3. Although all three enzymes catalyze the same enzymatic reaction, that is, oxidative decarboxylation of isocitrate to produce α-ketoglutarate, each IDH enzyme has unique features...
September 19, 2017: Biotechnic & Histochemistry: Official Publication of the Biological Stain Commission
https://www.readbyqxmd.com/read/28925492/detection-of-hereditary-hearing-loss-gene-by-dna-microarray
#7
G-Y Han, Z Xu, Q-S Li, H-Y Shen, W Zhang, J Liang
OBJECTIVE: Screening genes in patients suffering clinically sporadic deafness, using DNA microarray, and evaluating the application value of the clinical detection. PATIENTS AND METHODS: DNA extracted from patients' venous blood was amplified by PCR, and hybridization was carried out in a myriad class clean room. Nine mutation sites of four deaf genes commonly seen in Chinese people were tested. RESULTS: Among 24 patients, 7 cases with mutations were detected, with a positive rate of 29...
August 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/28925026/characterizing-community-courts
#8
Tali Gal, Hadar Dancig-Rosenberg
Community courts (CCs) provide a therapeutic diversion for repeat low-level offenders. This article explores the characteristics of two Israeli CCs using the Criminal Law Taxonomy (CLT), an instrument developed by the authors for assessing process-, stakeholder-, substance-, and outcomes-related characteristics of criminal justice mechanisms. Through court-hearing observations and a process of multi-rater coding of cases, the article analyzes the courtroom dynamics according to a set of 13 measurable parameters...
September 18, 2017: Behavioral Sciences & the Law
https://www.readbyqxmd.com/read/28925013/an-animal-model-of-deep-brain-stimulation-for-treating-tinnitus-a-proof-of-concept-study
#9
Syed F Ahsan, Hao Luo, Jinsheng Zhang, Eric Kim, Yong Xu
OBJECTIVE: This proof-of-concept study aimed to demonstrate therapeutic effects of deep brain stimulation (DBS) on noise-induced tinnitus. STUDY DESIGN: Experimental animal study. METHODS: After Institutional Animal Care and Use Committee approval, nine adult rats were implanted in the caudate nucleus with custom-made electrode array. The rats were exposed to noise to induce tinnitus. Auditory brainstem response was performed to evaluate hearing threshold changes...
September 19, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28924861/role-of-bdnf-and-neurotrophic-receptors-in-human-inner-ear-development
#10
L Johnson Chacko, M J F Blumer, E Pechriggl, H Rask-Andersen, W Dietl, A Haim, H Fritsch, R Glueckert, J Dudas, A Schrott-Fischer
The expression patterns of the neurotrophin, brain-derived neurotrophic factor, BDNF, and the neurotrophic receptors-p75NTR and Trk receptors-in the developing human fetal inner ear between the gestational weeks (GW) 9 to 12 are examined via in situ hybridization and immunohistochemistry. BDNF mRNA expression was highest in the cochlea at GW 9 but declined in the course of development. In contrast to embryonic murine specimens, a decline in BDNF expression from the apical to the basal turn of the cochlea could not be observed...
September 19, 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28924582/data-on-the-effect-of-conductive-hearing-loss-on-auditory-and-visual-cortex-activity-revealed-by-intrinsic-signal-imaging
#11
Manuel Teichert, Jürgen Bolz
This data article provides additional data related to the research article entitled "Simultaneous intrinsic signal imaging of auditory and visual cortex reveals profound effects of acute hearing loss on visual processing" (Teichert and Bolz, 2017) [1]. The primary auditory and visual cortex (A1 and V1) of adult male C57BL/6J mice (P120-P240) were mapped simultaneously using intrinsic signal imaging (Kalatsky and Stryker, 2003) [2]. A1 and V1 activity evoked by combined auditory and visual stimulation were measured before and after conductive hearing loss (CHL) induced by bilateral malleus removal...
October 2017: Data in Brief
https://www.readbyqxmd.com/read/28924294/meatal-obstruction-following-canal-wall-down-mastoidectomy
#12
Nazim Bozan, Ufuk Duzenli, Pinar Kundi, Mahfuz Turan, Ahmet Faruk Kiroglu
Chronic otitis media (COM) is completely treated with a single procedure in most patients but may require multiple surgeries in some cases. The main goals of open cavity mastoidectomy are to completely eradicate the disease, create a large enough meatus for examination and mastoid air cells, and provide a self-cleaning epithelized dry cavity, and achieve maximum hearing. In this report, we present a very rare case of COM who underwent revision mastoidectomy in our clinic due to meatal obstruction in the right ear, total sensorineural hearing loss, and pain and tenderness in the postauricular region...
September 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28924266/effects-of-bomb-blast-injury-on-the-ears-the-aga-khan-university-hospital-experience
#13
Talha Ahmed Qureshi, Mohammad Sohail Awan, Nabeel Hamayun Hassan, Agha Hussain Aftab, Syed Adnan Ali
OBJECTIVE: To evaluate the frequency and effects of blast-related otologic injuries. METHODS: his retrospective study was conducted at the Aga Khan University Hospital, Karachi, and comprised charts of patients who were victims of bomb explosions between January 2011 and July 2013. Frequency and percentages were reported using cross tabulation with size of bomb, distance of person from blast and the presence of victim in open or closed space. Association of associated variables were also analysed...
September 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28923561/update-on-the-safety-of-phosphodiesterase-type-5-inhibitors-for-the-treatment-of-erectile-dysfunction
#14
REVIEW
Faysal A Yafi, Ira D Sharlip, Edgardo F Becher
INTRODUCTION: Phosphodiesterase type 5 inhibitors (PDE5Is) have demonstrated efficacy in the treatment of erectile dysfunction (ED). Although historically found to have limited drug-related adverse events, emerging data have suggested that PDE5Is might be associated with melanoma or recurrence of prostate cancer after radical prostatectomy. AIM: To summarize the literature on the safety of PDE5Is. METHODS: A literature review was performed through PubMed from 1990 through 2016 regarding ED...
September 8, 2017: Sexual Medicine Reviews
https://www.readbyqxmd.com/read/28923474/beyond-the-inhaled-nitric-oxide-in-persistent-pulmonary-hypertension-of-the-newborn
#15
REVIEW
Mei-Yin Lai, Shih-Ming Chu, Satyan Lakshminrusimha, Hung-Chih Lin
Persistent pulmonary hypertension (PPHN) is a consequence of failed pulmonary vascular transition at birth and leads to pulmonary hypertension with shunting of deoxygenated blood across the ductus arteriosus (DA) and foramen ovale (FO) resulting in severe hypoxemia, and it may eventually lead to life-threatening circulatory failure. PPHN is a serious event affecting both term and preterm infants in the neonatal intensive care unit. It is often associated with diseases such as congenital diaphragmatic hernia, meconium aspiration, sepsis, congenital pneumonia, birth asphyxia and respiratory distress syndrome...
August 10, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28923429/frequency-of-auditory-involvement-and-of-associated-factors-in-patients-with-juvenile-idiopathic-arthritis
#16
Adriana Ivonne Céspedes Cruz, Myriam Méndez Núñez, Eunice Solís Vallejo, Maritza Zeferino Cruz, Alfonso Ragnar Torres Jiménez, Verónica Ocampo Sánchez, Beatriz Flores Meza, Norma Quintana Ruiz
INTRODUCTION: Juvenile idiopathic arthritis (JIA) is a chronic autoimmune disease characterized by the presence of arthritis in children under 16 years of age for more than 6 weeks in the absence of any other known cause. The extra-articular manifestations, especially in the audiovestibular system, are related to the involvement of the joints of the ossicular chain as a result of the inflammatory process in the synovium. Previous clinical studies in pediatric patients have shown conductive or sensorineural hearing loss...
September 8, 2017: Reumatología Clinica
https://www.readbyqxmd.com/read/28923033/feasibility-of-a-low-cost-hearing-screening-in-rural-indiana
#17
Khalid M Khan, Sylvanna L Bielko, Priscilla A Barnes, Sydney S Evans, Anna L K Main
BACKGROUND: Hearing loss remains a neglected public health issue in the rural and agricultural communities in the United States and therefore, promotion of a low-cost hearing screening may be important for these underserved populations. The major objectives of our study were to assess feasibility of a low-cost telephone-administered hearing test in rural Indiana and to identify the challenges, barriers and viable implementation strategies associated with this test. Also, we evaluated whether a focus group session could change the hearing health attitude of rural residents...
September 18, 2017: BMC Public Health
https://www.readbyqxmd.com/read/28922984/cortical-auditory-evoked-potential-caep-and-behavioural-measures-of-auditory-function-in-a-child-with-a-single-sided-deafness
#18
Oscar M Cañete, Suzanne C Purdy, Michel Neeff, Colin R S Brown, Peter R Thorne
OBJECTIVES: To study the changes in behavioural and cortical responses over time in a child with single-sided deafness fitted with a cochlear implant (CI). METHODS: Cortical auditory evoked potentials (CAEPs) in noise (+5 dB signal-to-noise ratio) were recorded and auditory skills were assessed using tests of sound localization, spatial speech perception in noise, and self-ratings of auditory abilities (Listening inventory for education, LIFE and Speech, spatial and qualities of hearing questionnaire, SSQ parental version)...
September 19, 2017: Cochlear Implants International
https://www.readbyqxmd.com/read/28922861/can-you-hear-them-now-tumor-microtubes-form-cellular-communication-networks-that-protect-gliomas-from-surgical-lesions-and-chemotherapy-treatments
#19
https://www.readbyqxmd.com/read/28922267/the-1-year-follow-up-clinic-for-neonates-and-children-after-respiratory-extracorporeal-membrane-oxygenation-support-a-10-year-single-institution-experience
#20
Suzan Kakat, Maura O'Callaghan, Liz Smith, Raymond Hreiche, Deborah A Ridout, Jo Wray, Timothy Thiruchelvam, Katherine L Brown, Aparna U Hoskote
OBJECTIVES: To establish the effectiveness of a "1-year extracorporeal membrane oxygenation follow-up clinic" and to characterize any neurodevelopmental concerns identified. DESIGN: Single-center retrospective cohort of respiratory extracorporeal membrane oxygenation survivors over 10 years. SETTING: Nationally commissioned center for neonatal and pediatric (> 28 d of life) respiratory extracorporeal membrane oxygenation. PATIENTS: Children attending the follow-up clinic 1 year after receiving respiratory extracorporeal membrane oxygenation between 2003 and 2013...
September 15, 2017: Pediatric Critical Care Medicine
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