Novel deleterious mutation in MYO7A, TH and EVC2 in two Pakistani brothers with familial deafness

Objective: In Pakistan, 74% of consanguineous marriages are among the first cousins. Continuity of consanguineous marriages over generations increases the risk of recessive diseases such as deafness. The objective of this study was to investigate genetic origin of Pakistani deaf brothers with parents of consanguineous marriage

Methods: DNA was extracted from the blood through Qiagen kit. Paired-end sequencing library was prepared according to protocol of Illumina's TruSight Rapid Capture kit and TruSight Inherited Disease Panel. Library was normalized and used for Next Generation Sequencing through MiSeq. NGS data were analyzed using various bioinformatics tools

Results: Both brothers were found to have novel deleterious mutation in MYO7A [c.2476G>A] while the younger brother had additional novel deleterious mutation in TH [c.43C>T] and EVC2 [c.2614C>T] genes

Conclusion: It is concluded that in addition to novel mutations in MYO7A, TH and EVC2, the CDH23 and GJB2 can also be responsible for deafness in the family with consanguineous marriages.

systematic translation of biomarkers research into clinical practice

Background: The rapid gains in science and technology during the last century resulted in an epidemiological shift from infectious diseases to non-communicable diseases like cancer, diabetes mellitus, and cardiovascular diseases. However, despite the large funding put into the understanding of etiology of cancer, identification of novel diagnostic markers, and advancing cancer treatment, the translation of research findings into clinical practice leaves much to be desired for

Methods and Results: The translation of cancer biomarkers into clinical practice is a great challenge that needs to be promptly addressed for better cancer outcomes. This review discusses the characteristics of clinically useful cancer biomarkers, and how biomarkers identified by research can be used for the improved cancer management and patient outcomes. We also explored the underlying reasons for the less than an optimal translation of biomarkers research into clinical practice, how basic medical sciences can undertake more clinically relevant research, and provide suggestions on how to improve the clinical translation of research findings from such studies. The reason delaying the clinical translation of biomarkers are: lack of systematic analyses on existing cancer biomarkers; inadequate sample size; lack of an optimal scoring system and threshold; limited use of panels of biomarkers; technical differences between laboratories; and the need for well-designed validation studies [biomarker clinical trials]

Conclusion: Clinical translation of biomarkers could potentially be facilitated through a systematic approach taking into account the reasons highlighted in the current study

Attributes of a good medical school: faculty perspective in local context

Background: Medical schools and institutions are required to meet the standards of national and international accreditation bodies. These standards guide the attributes of a good medical school. The current study was designed to identify the attributes of a good medical school from a local perspective

Methods: For this qualitative study based upon grounded theory, 25 participants were recruited through purposive sampling who underwent a workshop to get an insight about the attributes of a good medical school. They were asked to provide the faculty perspectives of a good medical school. The participant responses were put in online software 'Worditout' to look for the repetitions of words, followed by open coding technique. Initial coding was followed by a second phase of axial coding of the data in order to identify themes and thematic analyses of all the data were performed

Results: The teaching experience of the participants in medical schools varied from 2 to 20 years. In total, 198 responses/comments from all the participants were recorded. After doing the open and axial coding all the responses were summarized into four themes. The themes highlighted in order of the response frequency were: 1] improved learning strategies and opportunities; 2] modification and improvements in teaching methodologies; 3] standardised and programmatic assessment methods and 4] parameters of quality assurance and management

Conclusion: The attributes of a good medical school are guided by the national and international standards. However, some of the standards are contextual and our study showed these standards as attributes of a good medical school. It includes provision of better learning opportunities, teaching methodologies, standardised assessment and quality assurance