Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders.

AIM: To address the implementation of the National Newborn Screening Program (NBS) in Saudi Arabia and stratify the incidence of the screened disorders. METHODS: A retrospective study conducted between 1 August 2005 and 31 December 2012, total of 775 000 newborns were screened from 139 hospitals distributed among all regions of Saudi Arabia. The NBS Program screens for 16 disorders from a selective list of inborn errors of metabolism (IEM) and endocrine disorders. Heel prick dry blood spot samples were obtained from all newborns for biochemical and immunoassay testing. Recall screening testing was performed for Initial positive results and confirmed by specific biochemical assays. RESULTS: A total of 743 cases were identified giving an overall incidence of 1:1043. Frequently detected disorders nationwide were congenital hypothyroidism and congenital adrenal hyperplasia with an incidence of 1:7175 and 1:7908 correspondingly. The highest incidence among the IEM was propionic acidaemia with an incidence rate of 1:14 000. CONCLUSION: The article highlights the experience of the NBS Program in Saudi Arabia and providing data on specific regional incidences of all the screened disorders included in the programme; and showed that the incidence of these disorders is one of the highest reported so far world-wide.

Psychological Impact of COVID-19 Pandemic on Healthcare Workers in Riyadh, Saudi Arabia: Perceived Stress Scale Measures.

BACKGROUND: The COVID-19 pandemic has been stressful and of considerable concern among health care workers (HCWs). Being particularly at increased risk for exposure, HCWs worry about becoming infected as well as infecting co-workers, patients and family members. Such distress and panic may have destructive effects on individuals and may last long after the pandemic situation leading to depression or post-traumatic stress disorder. Therefore, the aim of the current study is to measure and investigate the prevalence of the factors affecting psychological stress during the COVID-19 pandemic among HCWs. METHODS: A self-administered online survey-including perceived stress scale (PSS) questions-was disseminated among HCWs in Riyadh, Saudi Arabia (SA) between1st June and 30th July 2020. RESULTS: A total of 469 HCWs responded to the survey for a high response rate (93.8%). The PSS revealed that 15.8% of the respondents were suffering from high stress levels, 77.2% were suffering from moderate stress levels and 7% with low stress levels. Females and junior frontline staff reported more severe stress levels. Participation on the pandemic team shows significant impact on stress levels. CONCLUSION: COVID-19 pandemic has increased stress levels among HCWs and affects their psychological wellbeing. Designing programs promoting HCWs mental health are crucial and emotional and psychological support strategies should be part of every public health crisis management plan.

Egyptian patients'/guardians' experiences and perception about clinical informed consent and its purpose: Cross sectional study.

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.

Peer-Led Surgical Safety Learning Among Medical Students Using a Novel Story-Based Approach.

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.

Current status of newborn screening worldwide: 2015.

Newborn screening describes various tests that can occur during the first few hours or days of a newborn's life and have the potential for preventing severe health problems, including death. Newborn screening has evolved from a simple blood or urine screening test to a more comprehensive and complex screening system capable of detecting over 50 different conditions. While a number of papers have described various newborn screening activities around the world, including a series of papers in 2007, a comprehensive review of ongoing activities since that time has not been published. In this report, we divide the world into 5 regions (North America, Europe, Middle East and North Africa, Latin America, and Asia Pacific), assessing the current NBS situation in each region and reviewing activities that have taken place in recent years. We have also provided an extensive reference listing and summary of NBS and health data in tabular form.

Assessment of the Knowledge and Attitudes of Saudi Mothers towards Newborn Screening.

OBJECTIVE: To assess the attitude and knowledge of the Saudi mothers toward newborn screening (NBS) program. METHODS: A total of 425 Saudi women (only mothers who have at least one pregnancy) participated in the study from different regions in Saudi Arabia and completed the structured questionnaire which sought their views on the NBS services. RESULTS: A majority of the participating women (91.1%) supported the NBS program and felt it was very important and useful. However, knowledge of NBS was found to be very limited and only 34.6% knew that NBS was a test to detect genetic disorders. A lack of communication and counseling to NBS clients by health authorities offering screening is implied. CONCLUSION: In general, there is a positive attitude towards the NBS program among Saudi women. However, they have several concerns to improve the availability of medication and formulas, genetic counseling, medical interventions, communication, education materials, and awareness.

Determination of urinary S-sulphocysteine, xanthine and hypoxanthine by liquid chromatography-electrospray tandem mass spectrometry.

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.