Hematopoietic stem cell transplantation in Saudi Arabia between 1984 and 2016: Experience from four leading tertiary care hematopoietic stem cell transplantation centers

Saudi Arabia is the largest of the Arabian Gulf countries with a total population of 33.41 million as of 2017. This report summarizes the experience from four leading tertiary care hematopoietic stem cell transplantation (HSCT) centers in Saudi Arabia representing more than 90% of all HSCTs performed in the country. Between 1984 and 2016, a total of 6,184 HSCTs were performed. Of these, 3,586 HSCTs were performed in adults and 2,598 HSCTs were performed in pediatric patients. Malignancy was the main indication for transplantation (47%). While most transplants were performed from an identical sibling donor, HSCTs from cord blood, unrelated and, more recently, haploidentical donors have also been performed. Relative shortage of HSCT bed capacity is perceived to be a limiting factor in Saudi Arabia. Lately, more HSCT centers are emerging with rapid growth, which may significantly improve the access to HSCT in the country in the near future.     

Case of Sjögren–Larsson syndrome with a large deletion in the ALDH3A2 gene confirmed by single nucleotide polymorphism array analysis

Sjögren–Larsson syndrome (SLS) is a neurocutaneous disorder inherited in an autosomal recessive fashion. SLS patients are characterized by lipid metabolism error, primarily leading to cardinal signs of ichthyosis, spasticity and mental retardation. Additional signs include short stature, epilepsy, retinal abnormalities and photophobia. More than 90 mutations of the ALDH3A2 gene have been reported for SLS, and such variants can be successfully detected at a rate of 94% by direct DNA sequencing. We performed direct sequencing of ALDH3A2 gene from the index patient, however, no mutation could be detected. HumanCytoSNPs12 array analysis and subsequent targeted single nucleotide polymorphism analysis revealed a novel deletion mutation at chromosome 17p11.2. This 67‐Kb region includes the first five coding exons of ALDH3A2, and is flanked by rs2245639 and rs962801. To the best of our knowledge, this mutation is novel and our findings broaden the mutation spectrum of ALDH3A2 causing SLS phenotype.     

Pharmacists’ satisfaction with their involvement in the management of COVID-19 patients in Saudi Arabia

IntroductionThe Coronavirus Disease 2019 (COVID-19) is a public health emergency and during this unprecedented situation, health care providers across the globe are at the frontline in the fight against this disease. Countries that have been severely hit by the pandemic are using pharmacists to help triage patients. In order to ensure the continuity of these services, it is of paramount importance that pharmacists be formally involved and engaged in the management of this pandemic. In response to the underlying knowledge deficit, this study was undertaken as the first of its kind in the entirety of Saudi Arabia.MethodsThis study is a questionnaire based cross-sectional study that was carried out for a period of five months from March 2020 to July 2020 to assess the role of working pharmacists in the management of the COVID-19 pandemic under different health care settings across Saudi Arabia.ResultsA total of 398 responses were recorded, in which 51.1% of the respondents were not involved in any learning or awareness activities involving health care providers (HCPs) or patients. The majority of respondents (62.9%) were not involved in creating or evaluating therapeutic plans for COVID19 patients, and 55% were not involved in therapeutic mentoring of COVID19 patients. Only a very low percentage of respondents were participating in COVID19-related research within their institution. Only 37% of respondents reported being satisfied with their role and contribution in the management of COVID-19.ConclusionThe present study reveals that pharmacists are underutilized in the management of COVID-19 patients in Saudi Arabia. As such, the findings emphasize the importance of enhancing the role and contribution of pharmacists in patient care management across all hospitals and especially under health care crisis conditions. The establishment of a crisis standard of care guideline for all HCPs, including pharmacists, would help in improving patient overall care under crisis conditions like the present COVID-19 pandemic.     

Association between the Val66Met polymorphism (rs6265/G196A) of the BDNF gene and cognitive performance with SSRI use in Arab Alzheimer’s disease patients

Brain derived neutrophic factor (BDNF) is a protein and a member of the neurotrophin family of growth factors, supports the survival of existing neurons and encourages the growth and differentiation of new neurons and synapses. The BDNF gene Val66Met polymorphism (rs6265/G196A) is responsible for BDNF synthesis that impact BDNF function that includes memory and cognition.This study investigated whether the BDNF gene Val66Met polymorphism (rs6265/G196A) is associated with cognitive function changes in both Alzheimer disease (AD) patients and elderly participants. In addition the impact of SSRI use on cognition improvement will be assessed. Healthy young, middle ages (25–59 years old) and elderly (more than 60 years old) participants (140) as well as 40 AD patients of whom are both of Saudi Arabian origin were recruited. The genotyping for the association study was performed by real-time PCR using Taqman chemistry in the ABI Prism 7900HT Sequence Detection System. Both Mini-Mental Status Examination (MMSE) and Clinical Dementia Rating (CDR) were used to assess cognitive function of healthy and AD participants, respectively.The findings showed that the BDNF Val66Met genotype distributions and allele frequencies have significant association with cognitive performance in both elderly control group and AD patients. The main findings showed that carriers of GG homozygotes (Val/Val) have superior cognitive performance among AD patients and elderly control subjects. In addition the use of SSRIs in 13 AD patients and 17 elderly participants positively improved cognitive function in elderly (p > 0.001) but not in AD patients (p = 0.1).