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Hereditary hearing loss (HL) is known by a very high genetic heterogeneity, which makes a molecular diagnosis problematic. Next-generation sequencing (NGS) is a new strategy that can overcome this problem.
This article was published in the following journal.
Name: Audiology & neuro-otology
Mucopolysaccharidosis VI is a rare autosomal recessive disorder caused by the deficiency of enzyme Arylsulfatase B. The enzyme deficiency leads to the accumulation of dermatan sulfate in connective ti...
MYO15A variants are responsible for human non-syndromic autosomal recessive deafness (DFNB3). The majority of MYO15A variants are associated with a congenital severe-to-profound hearing loss phenotype...
Mucopolysaccharidosis (MPS) type VI, also known as Maroteaux-Lamy syndrome, is an autosomal recessive lysosomal storage disorder caused by a deficiency in arylsulfatase B (ARSB) enzyme. Our objectives...
There are many studies about Iranian clinical pharmacists' interventions and their impacts on medication safety and cost. The aim of this study is to collect data and critically evaluate the clinical ...
Whole exome sequencing (WES) has become routine in clinical practice, especially in studies of recessive hereditary diseases in inbred consanguineous families, where homozygosity of a founder mutation...
This study proposes to identify patients who developed RMS with vancomycin infusion, and determine presence or absence of variant alleles involved in histamine biotransformation. The impli...
Resistance to thyrotropin (RTSH) is a condition of impaired responsiveness of the thyroid gland to TSH, characterized by elevated TSH, low or normal thyroid hormone levels, and hypoplastic...
This single-center, randomized, double-blind, placebo-controlled trial was undertaken at an outpatient clinic in Shuguang Hospital. Newly diagnosed cough variant asthma adult patients with...
This study aims to identify various time-variant and time-invariant components of EEG signals using advanced signal processing techniques, such as machine learning. Our ultimate goal is to...
The main objective of this research is the role of the Persumac(an Iranian traditional remedy) on refractory Chemotherapy Induced Nausea and Vomiting (CINV) in breast cancer patients. Inve...
A broad approach to appropriate coordination of the entire disease treatment process that often involves shifting away from more expensive inpatient and acute care to areas such as preventive medicine, patient counseling and education, and outpatient care. This concept includes implications of appropriate versus inappropriate therapy on the overall cost and clinical outcome of a particular disease. (From Hosp Pharm 1995 Jul;30(7):596)
The identification, analysis, and resolution of moral problems that arise in the care of patients. (Bioethics Thesaurus)
Committees established by professional societies, health facilities, or other institutions to consider decisions that have bioethical implications. The role of these committees may include consultation, education, mediation, and/or review of policies and practices. Committees that consider the ethical dimensions of patient care are ETHICS COMMITTEES, CLINICAL; committees established to protect the welfare of research subjects are ETHICS COMMITTEES, RESEARCH.
A clinical syndrome characterized by the development of CHEST PAIN at rest with concomitant transient ST segment elevation in the ELECTROCARDIOGRAM, but with preserved exercise capacity.
A branch of applied ethics that studies the value implications of practices and developments in life sciences, medicine, and health care.
DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule. During DNA sequencing, the bases of a small fragment of DNA are sequentially identified from signals emitted as each fragment is re-synthesized from a ...
Hearing, auditory perception, or audition is the ability to perceive sound by detecting vibrations, changes in the pressure of the surrounding medium through time, through an organ such as the ear. Sound may be heard through solid, liquid, or gaseous mat...