Pak J Med Sci
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Dopa-responsive dystonia due to sepiapterin reductase deficiency (OMIM#612716) is caused by recessive mutations in the gene encoding sepiapterin reductase (SPR), which plays an important role in the biosynthesis of tetrahydrobiopterin (BH4). One Jordanian patient to first cousin parents is reported in this study. The parents of the proband have recognized the symptoms of their daughter at six months old with motor developmental delay. ⋯ Because this disease is likely to be treated recommendations were given to the family immediately to start treatments trials. The case in this study illustrates the difficulties of diagnosing sepiapterin reductase deficiency based on clinical symptoms only and thus renders the possibilities of early management. Also, this study reinforces the importance of running WES to undiagnosed neurodevelopmental cases.
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Ensuring competence in communication skills amongst trainees is essential in health professions education. Involving faculty members for the same is a challenge in Obstetrics and Gynecology (OBGYN) due to their clinical commitments. The present study compares scores of OBGYN faculty, non-OBGYN faculty and simulated patients (SPs) on communication skills of postgraduate trainees during formative Objective Structured Clinical Examination (OSCE). ⋯ The SPs and non-OBGYN clinical faculty can also be used to assess communication and counseling skills on OBGYN OSCEs after required training as examiners.