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Background: Informed consent (IC) is a healthcare standard emphasizing the meaning of human dignity as clarified in the Universal Declaration of Human Rights. Data about IC practices in Egypt is insufficient. This study aimed to assess the Egyptian patients'/guardians' experiences about IC and their expectations about its practices' purposes in general and according to the type of the healthcare facility., Methods: Self-administered questionnaire was carried out for 1092 participants who had undergone or were scheduled to a procedure requiring an IC at three studied types for Egyptian health care facilities. Ten statements were ranked twice by the participants to reflect their perception of IC purpose as per what is currently practiced and what they believe should be practiced., Results: IC implementation varies significantly (p<0.05) across the health care facilities in Egypt. The percentage of its implementation at the non-governmental facilities, governmental facilities, and university hospital was 85.9%, 77.8%, and 63.8 respectively. The first three ranked purposes of the current IC practices were: "Helping patient/guardian decide (64.9%)", "Documenting patient's/guardian's decision (59.3%)", and "Having shared decision (57.3%)". The perceived purposes of IC to be practiced were: "Informing the patient/guardian (68.4%)", "Making sure patient/guardian understand (65.3%)" and "Documenting patients/guardians decisions (65.1%)". "Being a meaningless routine" was reported by the majority to be ranked as a low purpose for IC current and preferred practices., Conclusion: The practice of IC is common within the Egyptian medical community. Participants believe that information disclosure "Making sure patients understand" has to help in IC decision making and its main purpose. However, unfortunately, this is not perceived as a current purpose of IC. There was consensus agreement that documenting the patient's/guardian's decision and informing the patient/guardian are perceived as both important current and preferred purposes for IC practices., Competing Interests: The authors have declared that no competing interests exist.

Introduction Even though medical students are important for the future of the overall healthcare system, they are often overlooked as valuable participants in safeguarding patient safety. Moreover, surgical safety is a critical topic that deserves to be addressed thoroughly during medical education, as part of the broader topic of patient safety. To maximize students' engagement and to enhance their interest in patient safety and healthcare quality, it is imperative to explore and innovate stirring and interactive methods of learning. Through this paper, we present a unique narrative novel story-based, peer-led surgical safety teaching session organized by medical student representatives of Middle East's first student-led patient safety initiative and attended by medical students from various academic years. Methods A 1-hour case-based interactive learning session on surgical safety was developed, based on the World Health Organization (WHO) patient safety curriculum for medical schools. The session was peer-led at Alfaisal University College of Medicine, Riyadh and participation was voluntary. Learning objectives included surgical safety checklist, human factors, complexity of healthcare, students' critical role in safety and open disclosure. The session included a verbal "story-telling" segment, followed by a didactic segment where learning objectives were covered. Attendees were continuously engaged throughout the session with the help of verbal inquiries. Pre-test and post-test questionnaires were distributed to assess participants' knowledge, awareness and perceptions regarding surgical safety and other objectives covered in the session. Results A total of 75 students participated in the session, consisting of 57.3% females and 42.7% males. Responses to the pre-test and post-test were analyzed and compared. Most students who attended the session reported that it was of value to them - with more than 90% of students considering the session either valuable or highly valuable. After the session, more students (10.67%, p = 0.10) were correctly able to identify that the initial reaction in healthcare is often individual blame (Q.1). Additionally, more students (30.63%, p < 0.001) were able to correctly identify the implementation of the WHO surgical safety checklist as the major factor that has contributed to the reduction of errors in healthcare (Q.2). Students' responses also indicated that after attending the session a higher number (16%, p = 0.01) correctly identified that most errors linked to surgery were potentially preventable (Q.3). Conclusion Students are inherently willing to learn and engage in interactive learning. It was encouraging to see medical students show interest in this important patient safety topic, which also encourages similar future peer-learning initiatives. As reported, narrative story-based peer-assisted learning is an effective way to engage medical students in the cause of patient safety and should be utilized to further their knowledge and awareness regarding critical healthcare safety areas such as surgical safety, medication safety and infection control and instill a sense of responsibility in these future physicians., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2020, Baqal et al.)

This review presents the current experiences with newborn screening in the Middle East and North Africa region. The population in the region is about 400 million, with high birth rate and an estimated 10 million newborns per year. The majority of the population is of the Islamic faith and mostly Arab. The population is characterized by a high consanguinity (25-70%) and a high percentage of first-cousin marriages. Haemoglobin disorders, inherited metabolic disorders, neurogenetic disorders and birth defects are relatively common among the population. There is a rather slow progress in developing and implementing preventive genetic programmes owing to legal, cultural, political and financial issues. Although research spending is rather soft in the region, there are numerous pilot studies that highlighted the high incidence of genetic defects and the need for newborn screening programmes. Currently, there are only four countries that are executing national newborn screening but they vary from one disease to 23 and coverage is not complete. The region needs to take big steps towards developing national strategies for prevention and should learn from experiences of regional and international screening programmes.

We ascertained a patient with the full-blown phenotype of isolated sulfite oxidase deficiency in a consanguineous Arab family. The proband's phenotype included the presence of intractable seizures in the neonatal period, some dysmorphic features, neuroradiologic findings reminiscent of hypoxic ischemic encephalopathy and rapidly progressive brain destruction leading to severe neurodevelopmental impairment. Biochemically, the patient excreted a large amount of S-sulfocysteine with normal amounts of xanthene and hypoxanthine and had normal plasma uric acid, which was consistent with isolated sulfite oxidase deficiency. We report the identification of the first Arab mutation in SUOX, the gene for sulfite oxidase enzyme, in the ascertained family. The newly identified Arab mutation in the SUOX gene (a single nucleotide deletion, del G1244) is predicted to cause a frame shift at amino acid 117 of the translated protein with the generation of a stop codon and total truncation of the molybdo-pterin- and the dimerizing-domain(s) of SUOX protein expressed from the mutant allele. The identification of this new Arab SUOX mutation should facilitate pre-implantation genetic diagnosis and selection of unaffected embryos for future pregnancy in the ascertained family with the mutation and related families with the same mutation., (Copyright 2005 Wiley-Liss, Inc.)

Molybdenum cofactor and isolated sulphite oxidase deficiencies are two related rare autosomal recessive diseases characterized by severe neurological abnormalities, dislocated lens and mental retardation. Determination of three biochemical markers S-sulphocysteine (SSC), xanthine (XAN) and hypoxanthine (HXAN) in urine is essential for a definitive diagnosis and identification of the exact defect. We developed a rapid liquid chromatography-tandem mass spectrometry (LC-MS/MS) method for the analysis of SSC, XAN and HXAN in urine. The analysis was carried out in the negative-ion selected-reaction monitoring mode. The turnaround time for the assay was 7 min. Linear calibration curves for the three biomarkers were obtained in the range of 12-480 micromol/L. The intra- and inter-day assay variations were <2.5%. Mean recoveries of SSC, XAN and HXAN added to urine at two significantly different concentrations were in the range 94.3-107.3%. At a normal SSC urine excretion value of 3.2 micromol/mmol creatinine, the signal-to-noise ratio was 337:1. This stable isotope dilution LC-MS/MS method is specific, rapid and simple, and provides definitive diagnosis for molybdenum cofactor and isolated sulphite oxidase deficiencies in very small volumes of urine. We have identified seven new cases of isolated sulphite oxidase deficiency from four Saudi families and one Sudanese family., (Copyright 2005 John Wiley & Sons, Ltd.)