Sharif Digital Repository

Background: Wolfram syndrome (WFS) is characterized by deafness, diabetes mellitus, and diabetes insipidus along with optic atrophy. WFS has an autosomal recessive mode of inheritance and is due to variants in WFS1 and CISD2. Methods: We evaluated the underlying molecular etiology of three affected members of a consanguineous family with hearing impairment, bicuspid aortic valve, diabetes mellitus and insipidus, clinodactyly, and gastrointestinal tract abnormalities via exome sequencing approach. We correlated clinical and imaging data with the genetic findings and their associated phenotypes. Results: We identified a homozygous missense variant p.(Asn1097Lys) in CDK13, a gene previously... 

Several researches have been done to identify visual system characteristics. Some of them are based on the processing of the brain signal recordings. Visual evoked potentials (VEPs) are electrical signals which are produced in response to the visual stimuli and recorded by means of electrodes placed on the head. These signals are usually characterized by the amplitude and latency of their peaks. Different types of visual stimuli and visual system characteristics can affect the shape and hence the characteristics of VEPs. In this paper, proper visual stimuli were used and VEPs were recorded in order to classify visual acuity. To achieve this goal, visual evoked potentials were recorded and... 

This study is conducted with the aim of validating the Saadat non-invasive blood pressure (NIBP) module accuracy and reliability against direct intra arterial pressure measurement (IBP) according to the ANSI/AAMI SP10-2002 guidelines. Measurement and comparison procedure were done in a static population of 19 adult patients with brachial catheterized arterial line with total measurements of 195 under supervision of a highly experienced cardiovascular anesthesiologist in accordance with the ANSI/AAMI SP10-2002 regulation. Data analysis was performed based on the protocol criteria. In order to represent relationships between the test device and the reference method, Bland-Altman graphical... 

Objectives. Stressors have a serious role in precipitating mental and somatic disorders and are an interesting subject for many clinical and community-based studies. Hence, the proper and accurate measurement of them is very important. We revised the stressful life event (SLE) questionnaire by adding weights to the events in order to measure and determine a cut point. Methods. A total of 4569 adults aged between 18 and 85 years completed the SLE questionnaire and the general health questionnaire-12 (GHQ-12). A hybrid model of genetic algorithm (GA) and artificial neural networks (ANNs) was applied to extract the relation between the stressful life events (evaluated by a 6-point Likert scale)... 

In this study, multivariate classification techniques combined with proton nuclear magnetic resonance (1HNMR) spectroscopy is proposed to identify breast cancer biomarkers that can precisely distinguish between healthy control and breast cancer (BC) patients. In this regard, first optimizing the metabolite extraction procedure was performed using Box-Behnken design (BBD). Then, data-driven soft independent modeling of class analogy (DD-SIMCA) model and partial least squares-discriminant analysis (PLS-DA) were successfully utilized for separating healthy from BC patient's classes. On this matter, both DD-SIMCA and PLS-DA models could successfully distinguish the healthy class from the BC... 

Maximum voluntary exertion (MVE) tasks quantify trunk strength and maximal muscle electromyography (EMG) activities with both clinical and biomechanical implications. The aims here are to evaluate the performance of an existing trunk musculoskeletal model, estimate maximum muscle stresses and spinal forces, and explore likely differences between males and females in maximum voluntary exertions. We, therefore, measured trunk strength and EMG activities of 19 healthy right-handed subjects (9 females and 10 males) in flexion, extension, lateral and axial directions. MVEs for all subjects were then simulated in a subject-specific trunk musculoskeletal model, and estimated muscle activities were... 

Objectives: Previous research has shown inconsistent findings regarding muscle endurance in chronic low back pain (CLBP). Questions also remain about muscle endurance in patients with clinical instability. The aim of this study was to investigate trunk muscles strength and endurance in CLBP patients with and without clinical instability. Methods: 32 CLBP patients (15 with and 17 without clinical instability) and 39 matched healthy subjects participated in this study. The standing extension test was performed to assess the strength and endurance of the lumbar extensors while recording their electromyographic activity. The patients' disability was evaluated using the Oswestry and Roland-Morris... 

Muscle fatigue affects the underlying EMG-force relationship on which EMG-assisted biomechanical models rely. The aim of this study was to evaluate the impact of short duration muscle fatigue on the muscle gain value. Participants performed controlled, isometric trunk extension exertions at 10, 20, and 30 degrees of trunk flexion and controlled isokinetic trunk extension exertions at 5 and 15°/sec on five separate days. Fatigue of the lumbar extensors was generated by moderate-intensity, trunk extension exertions. Participants performed controlled test contractions at defined intervals throughout the fatiguing bout and the EMG activities of trunk muscles were collected. These EMG data were... 

Multiple joint interactions are critical to produce stable coordinated movements and can be influenced by low back pain and task conditions. Inter-segmental coordination pattern and variability were assessed in subjects with and without chronic nonspecific low back pain (CNSLBP). Kinematic data were collected from 22 CNSLBP and 22 healthy volunteers during repeated trunk flexion-extension in various conditions of symmetry, velocity, and loading; each at two levels. Sagittal plane angular data were time normalized and used to calculate continuous relative phase for each data point. Mean absolute relative phase (MARP) and deviation phase (DP) were derived to quantify lumbar-pelvis and... 

Background: Females are two times more likely to develop patellofemoral pain (PFP) than males. Abnormal trunk and pelvis kinematics are thought to contribute to the pathomechanics of this condition. However, there is a scarcity of evidence investigating proximal segments kinematics in females with PFP. Research question: The purpose of this study was to investigate whether females with PFP demonstrate altered trunk, pelvis, and knee joint kinematics compared with healthy controls during running. Methods: Thirty-four females (17 PFP, 17 controls) underwent a 3-dimensional motion analysis during treadmill running at preferred and fixed speeds, each trial for 30 s. Variables of interest... 

Background: Most dentists complain of musculoskeletal disorders which can be caused by prolonged static posture lack of suitable rest and other physical and psychological problems. Objective: We evaluated a chair with a new ergonomic design which incorporated forward leaning chest and arm supports. Methods: The chair was evaluated in the laboratory during task simulation and EMG analysis on 12 students and subjectively assessed by 30 professional dentists using an 18-item questionnaire. EMG activity of right and left trapezius muscles for 12 male students with no musculoskeletal disorders was measured while simulating common tasks like working on the teeth of the lower jaw. Results:... 

Introduction: Among several surgical treatments, the use of transplantation of epidermal cultured melanocytes or melanocytes–keratinocytes cell suspension has gained many researchers and dermatologists' attention as a new technique for the treatment of vitiligo. The present study aimed to transplant autologous epidermal melanocytes–keratinocytes cell suspension for the treatment of vitiligo. Methods: In this study, 15 volunteer patients aged between 18 and 45 years old were studied. The autologous melanocytes–keratinocytes cell suspension was then transplanted to the region after dermabrasion. The included patients were evaluated by VisioFace, MPA9, and Skin Scanner-DUB once before and 1, 2,... 

Background. The Arthritis Impact Measurement Scales 2 (AIMS2) has not been translated and validated for Persian-speaking patients with osteoarthritis of the knee. This was to provide a validated instrument to measure functional disability and health-related quality of life in patients with osteoarthritis of the knee in Iran. The aim of this study was to culturally adapt and validate the AIMS2 for Persian-speaking patients with osteoarthritis of the knee in Iran. Methods. A consecutive sample of patients with knee osteoarthritis were asked to complete the AIMS2, the Short Form Health Survey (SF-36) and four visual analog scales for pain, joint stiffness, patient's and physician's global... 

STUDY DESIGN. Cultural translation and psychometric testing. OBJECTIVE. To translate and validate the Iranian versions of the Neck Disability Index (NDI-IR) and the Neck Pain and Disability Scale (NPDS-IR). SUMMARY OF BACKGROUND DATA. The widely used the NDI and the NPDS scales have not been translated and validated for Persian-speaking patients with neck pain. This was to provide a validated instrument to measure functional status in patients with neck pain in Iran. METHODS. The translation and cultural adaptation of the original questionnaires were carried out in accordance with the published guidelines. One hundred and eighty-five patients with neck pain were participated in the study.... 

Cultural adaptation and validation of the Persian version of the Arthritis Measurement Scales 2-Short Form (AIMS2-SF). The translation and cultural adaptation of the original questionnaire was carried out in accordance with published guidelines. Three hundred and fifty consecutive Persian-speaking patients with rheumatoid arthritis (RA) were asked to complete the AIMS2-SF, the Short Form Health Survey (SF-36), and four visual analog scales (VAS) for pain, joint stiffness, and patient's and physician's global assessment to test convergent validity. In addition, 90 randomly selected patients were asked to complete the questionnaire 48 h later for the second time. Moderate to high correlation... 

Although anxiety is one of the most prevalent psychological disorders in stroke survivors, its effect on sensory reweighting has not yet been fully studied. The aim of this work was to investigate how anticipation of collision avoidance events affects sensory reweighting in chronic stroke survivors with low and high levels of anxiety (LA-stroke and HA-stroke, respectively), as compared with healthy controls (HC), under the condition of perturbed proprioception. Eighteen LA-stroke and 18 HA-stroke survivors, as well as 18 gender- and age-matched HC, participated in this study. Postural sway variability (i.e. Root Mean Square (RMS) of the COP velocity) was measured for a duration of 180 s... 

Background: Low back pain (LBP) is known as one of the most common workrelated musculoskeletal disorders. Spinal cumulative loads (CLs) during manual material handling (MMH) tasks are the main risk factors for LBP. However, there is no valid and reliable quantitative lifting analysis tool available for quantifying CLs among Iranian workers performing MMH tasks. Objective: This study aimed to investigate the validity and inter-rater reliability of a posture-matching load assessment tool (PLAT) for estimating the L5-S1 static cumulative compression (CC) and shear (CS) loads based on predictive regression equations. Material and Methods: This experimental study was conducted among six... 

Iran is the fourth refugee-hosting country and Afghanistan is the second refugee-source country in the world. This research is qualitative and conducted with content analysis method. Twenty-seven individuals participated in the study. They were recruited from two midterm residential drug treatment centers in Tehran. Afghan refugees who use drugs felt and experienced stigma in five areas: family, friends, workplace, neighborhood, and treatment center. The consequences include frequent treatment failure, family relationship disruption, superficial conformity with the host society, and self-stigma. It is necessary to design interventions to reduce stigma and discrimination attached to refugees.... 

Background. Although the relationship between collective efficacy and group performance has been frequently investigated, a few studies have investigated the development of collective efficacy. Aim. This paper proposes some determinants of collective efficacy in small university groups. Group level hypotheses and research questions relating collective efficacy to collective cognition activities, task interdependence, self-efficacy for group work, and collective orientation were posited. Sample. The sample comprised 145 university students in 40 work-groups. Method. A two-phase longitudinal design was employed in the context of university student groups. All groups were required to perform... 

Introduction: Some tinnitus subjects habituate to their tinnitus but some others do not and complain of its annoyance tremendously. Normal sensory memory and change detection processes are needed for detecting the tinnitus signal as a prediction error and habituation to tinnitus. The purpose of this study was to compare auditory mismatch negativity as the index of sensory memory and change detection among the studied groups to search for the factors involving in the perception of tinnitus and preventing habituation in decompensated tinnitus subjects. Methods: Electroencephalography was recorded from scalp electrodes in compensated tinnitus, decompensated tinnitus, and no tinnitus control...