Precision medicine activities and opportunities for shaping maternal and neonatal health in Qatar.

Precision Medicine (PM) is a transformative clinical medicine strategy that aims to revolutionize healthcare by leveraging biological information and biomarkers. In the context of maternal and neonatal health, PM enables personalized care from preconception through the postnatal period. Qatar has emerged as a key player in PM research, with dedicated programs driving advancements and translating cutting-edge research into clinical applications. This article delves into neonatal and maternal health in Qatar, emphasizing PM programs and initiatives that have been implemented. It also features noteworthy clinical cases that demonstrate the effectiveness of precision interventions. Furthermore, the article highlights the role of pharmacogenomics in addressing various maternal health conditions. The review further explores potential advancements in the application of PM in maternal and neonatal healthcare in Qatar.

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A cost-effectiveness analysis for high versus standard (low) dose caffeine for the treatment of apnea in neonatal intensive care unit.

Objective: Preterm babies are prone to experiencing apnea of prematurity (AOP), mostly characterised by a pause in breathing lasting a minimum of 20 seconds. Recent literature supported higher maintenance doses of caffeine, indicating benefits. This study evaluated the cost-effectiveness of high maintenance dose (HD) versus low maintenance dose (LD) caffeine for AOP in neonates. Methods: From the hospital perspective of Hamad Medical Corporation (HMC), Qatar, a cost-effectiveness decision-analytic model was constructed to follow the use of a HD maintenance caffeine of 20 mg/kg/dose versus a LD maintenance caffeine of 10 mg/kg/dose, in a simulated cohort of AOP neonates, over a therapy follow-up duration of six weeks, until neonatal intensive care (NICU) discharge. The clinical inputs were primarily literature-based, while the resource cost and utilisation were locally extracted in HMC. The cost-effectiveness outcome measure was calculated per therapy success, defined as survival with no apnea and successful extubation removal within 72 hours, with or without adverse events. One-way and multivariate sensitivity analyses were performed to confirm the robustness of the results. Results: With 0.23 (95% CI, 0.23-0.23) enhancement in success rate, at United States dollar (US$) 3869 (95% CI, US$ 3823-3915) added infant cost, the HD caffeine was between dominant (34.8%) and cost-effective (63.7%), with an average incremental cost-effectiveness ratio of US $16,895 (95% CI, US$ 15,242-18,549) relative to LD caffeine per additional case of success. The hospitalisation contributed the most to the total infant cost, and the probability of patent ductus arteriosus was the model input that influenced the results most. Conclusion: This is the first literature economic evaluation of caffeine for AOP. Despite increasing the cost of therapy, HD maintenance caffeine seems to be a cost-effective alternative to LD caffeine in Qatar. Our results support the recent global trends of increased use of HD caffeine for AOP in NICU.

Clinical pharmacists' interventions for preventing adverse events in critically ill neonates in Qatar: an economic impact analysis.

Objective: This study aimed to assess the overall economic impact of clinical pharmacist interventions in the neonatal ICU (NICU) in Qatar. Methods: A retrospective review of neonates' records was performed over a 3-month duration in the NICU of Qatar to determine the total economic benefit of clinical pharmacist interventions. The total benefit of interventions was calculated by considering the cost avoidance due to preventable adverse drug events (ADEs) and the cost savings associated with the revised resource use due to interventions. Sensitivity analyses were conducted to ensure the robustness and generalizability of the results. Results: A total of 513 interventions were analyzed, involving 150 neonates. Most of the drug-related problems were related to therapy dosing, followed by drug choice appropriateness, the addition of prophylactic treatment, and administration frequency. The overall annual benefit was estimated at QAR 4,178,352 (1,147,584), which consisted of cost avoidance of QAR 1,050,680 (USD 288,648) and an overall cost saving of QAR -6091 (USD -1673). Conclusions: While the clinical pharmacist interventions led to increased resource utilisation and associated costs, when considering the avoided costs of ADEs, the overall clinical pharmacist practices in the NICU setting were economically beneficial.

Economic impact of clinical pharmacist interventions in a general tertiary hospital in Qatar.

BACKGROUND: With an increasingly strained health system budgets, healthcare services need to continually demonstrate evidence of economic benefits. This study sought to evaluate the economic impact of interventions initiated by clinical pharmacists in an adult general tertiary hospital. METHODS: A retrospective review of clinical pharmacist interventions was carried out throughout follow-up durations in March 2018, July/August 2018, and January 2019 in Hamad General Hospital (HGH) at Hamad Medical Corporation (HMC) in Qatar. The study included clinical pharmacy interventions data of patients admitted to the internal medicine, critical care, and emergency wards. Included interventions were documented by clinical pharmacists or clinical pharmacy specialists, and approved by physicians. Interventions by non-clinical pharmacists or with missing data were excluded. Adopting the perspective of HMC, we calculated the total economic benefit, which is the sum of the cost savings and the cost avoidance associated with the interventions. Cost savings was defined as the reduced cost of therapy associated with therapy changes minus the cost of intervention and cost avoidance was the cost avoided by eliminating the occurrence of adverse drug events (ADEs). Sensitivity analyses were performed to assess the robustness of results against uncertainties. RESULTS: A total of 852 interventions, based on 340 patients, were included. The analysis projected an annual total benefit of QAR 2,267,036 (USD 621,106) based on a negative cost-savings of QAR-175,139 (USD-47,983) and a positive cost avoidance of QAR741,898 (USD203,260) over the 3-month follow-up period. The uncertainty analysis demonstrated the robustness of outcomes, including a 100% probability of positive economic benefit. CONCLUSIONS: The clinical pharmacist intervention was associated with an increased cost of resource use, which was overtaken by the cost avoidance generated. The pharmacy intervention, therefore, is an overall economically beneficial practice in HGH, reducing ADEs with considerable consequential positive economic savings.

Association of single nucleotide polymorphisms with dyslipidemia and risk of metabolic disorders in the State of Qatar.

BACKGROUND: Dyslipidemia is recognized as one of the risk factors of cardiovascular diseases (CVDs), type 2 diabetes mellitus (T2DM), and non-alcoholic fatty liver disease (NAFLD). OBJECTIVE: The study aimed to investigate the association between selected single nucleotide polymorphisms (SNPs) with dyslipidemia and increased susceptibility risks of CVD, NAFLD, and/or T2DM in dyslipidemia patients in comparison with healthy control individuals from the Qatar genome project. METHODS: A community-based cross-sectional study was conducted among 2933 adults (859 dyslipidemia patients and 2074 healthy control individuals) from April to December 2021 to investigate the association between 331 selected SNPs with dyslipidemia and increased susceptibility risks of CVD, NAFLD and/or T2DM, and covariates. RESULTS: The genotypic frequencies of six SNPs were found to be significantly different in dyslipidemia patients subjects compared to the control group among males and females. In males, three SNPs were found to be significant, the rs11172113 in over-dominant model, the rs646776 in recessive and over-dominant models, and the rs1111875 in dominant model. On the other hand, two SNPs were found to be significant in females, including rs2954029 in recessive model, and rs1801251 in dominant and recessive models. The rs17514846 SNP was found for dominant and over-dominant models among males and only the dominant model for females. We found that the six SNPs linked to gender type had an influence in relation to disease susceptibility. When controlling for the four covariates (gender, obesity, hypertension, and diabetes), the difference between dyslipidemia and the control group remained significant for the six variants. Finally, males were three times more likely to have dyslipidemia in comparison with females, hypertension was two times more likely to be present in the dyslipidemia group, and diabetes was six times more likely to be in the dyslipidemia group. CONCLUSION: The current investigation provides evidence of association for a common SNP to coronary heart disease and suggests a sex-dependent effect and encourage potential therapeutic applications.

Management of chronic myeloid leukaemia: current treatment options, challenges, and future strategies.

ABSTRACTSmall molecule therapy is a critical component of targeted anticancer treatment, with tyrosine kinase inhibitors (TKIs) being the first compounds to treat the clonal Chronic Myelogenous Leukaemia (CML) translocation t (9;22) (q34; q11) effectively since 2001. TKIs, such as imatinib, have improved the 10-year survival rate of CML patients to 80%. They bind the BCR::ABL1 kinase and inhibit downstream signaling pathways. However, therapy failure may be seen in 20-25% of CML patients due to intolerance or inadequacy related to BCR::ABL1 dependent or independent mechanisms. This review aimed to summarize current treatment options involving TKIs, resistance mechanisms and the prospective approaches to overcome TKI resistance. We highlight BCR::ABL1-dependent mechanisms of TKI resistance by reviewing clinically-documented BCR::ABL1 mutations and their consequences for TKI binding. In addition, we summarize BCR::ABL1 independent pathways, including the relevance of drug efflux, dysregulation of microRNA, and the involvement of alternative signaling pathways. We also discuss future approaches, such as gene-editing techniques in the context of CML, as potential therapeutic strategies.

Prevalence, predictors, and outcomes of major congenital anomalies: A population-based register study.

Congenital anomalies (CAs) are a leading cause of morbidity and mortality in early life. We aimed to assess the incidence, risk factors, and outcomes of major CAs in the State of Qatar. A population-based retrospective data analysis of registry data retrieved from the Perinatal Neonatal Outcomes Research Study in the Arabian Gulf (PEARL-Peristat Study) between April 2017 and March 2018. The sample included 25,204 newborn records, which were audited between April 2017 and March 2018, of which 25,073 live births were identified and included in the study. Maternal risk factors and neonatal outcomes were assessed for association with specific CAs, including chromosomal/genetic, central nervous system (CNS), cardiovascular system (CVS), facial, renal, multiple congenital anomalies (MCAs) using univariate and multivariate analyses. The incidence of any CA among live births was 1.3% (n = 332). The most common CAs were CVS (n = 117; 35%), MCAs (n = 69, 21%), chromosomal/genetic (51; 15%), renal (n = 39; 12%), CNS (n = 20; 6%), facial (14, 4%), and other (GIT, Resp, Urogenital, Skeletal) (n = 22, 7%) anomalies. Multivariable regression analysis showed that multiple pregnancies, parity ≥ 1, maternal BMI, and demographic factors (mother's age and ethnicity, and infant's gender) were associated with various specific CAs. In-hospital mortality rate due to CAs was estimated to be 15.4%. CAs were significantly associated with high rates of caesarean deliveries (aOR 1.51; 95% CI 1.04-2.19), Apgar < 7 at 1 min (aOR 5.44; 95% CI 3.10-9.55), Apgar < 7 at 5 min (aOR 17.26; 95% CI 6.31-47.18), in-hospital mortality (aOR 76.16; 37.96-152.8), admission to neonatal intensive care unit (NICU) or perinatal death of neonate in labor room (LR)/operation theatre (OT) (aOR 34.03; 95% CI 20.51-56.46), prematurity (aOR 4.17; 95% CI 2.75-6.32), and low birth weight (aOR 5.88; 95% CI 3.92-8.82) before and after adjustment for the significant risk factors. This is the first study to assess the incidence, maternal risk factors, and neonatal outcomes associated with CAs in the state of Qatar. Therefore, a specialized congenital anomaly data registry is needed to identify risk factors and outcomes. In addition, counselling of mothers and their families may help to identify specific needs for pregnant women and their babies.

Incidence, risk factors, and feto-maternal outcomes of inappropriate birth weight for gestational age among singleton live births in Qatar: A population-based study.

BACKGROUND: Abnormal fetal growth can be associated with factors during pregnancy and at postpartum. OBJECTIVE: In this study, we aimed to assess the incidence, risk factors, and feto-maternal outcomes associated with small-for-gestational age (SGA) and large-for-gestational age (LGA) infants. METHODS: We performed a population-based retrospective study on 14,641 singleton live births registered in the PEARL-Peristat Study between April 2017 and March 2018 in Qatar. We estimated the incidence and examined the risk factors and outcomes using univariate and multivariate analysis. RESULTS: SGA and LGA incidence rates were 6.0% and 15.6%, respectively. In-hospital mortality among SGA and LGA infants was 2.5% and 0.3%, respectively, while for NICU admission or death in labor room and operation theatre was 28.9% and 14.9% respectively. Preterm babies were more likely to be born SGA (aRR, 2.31; 95% CI, 1.45-3.57) but male infants (aRR, 0.57; 95% CI, 0.4-0.81), those born to parous (aRR 0.66; 95% CI, 0.45-0.93), or overweight (aRR, 0.64; 95% CI, 0.42-0.97) mothers were less likely to be born SGA. On the other hand, males (aRR, 1.82; 95% CI, 1.49-2.19), infants born to parous mothers (aRR 2.16; 95% CI, 1.63-2.82), or to mothers with gestational diabetes mellitus (aRR 1.36; 95% CI, 1.11-1.66), or pre-gestational diabetes mellitus (aRR 2.58; 95% CI, 1.8-3.47) were significantly more likely to be LGA. SGA infants were at high risk of in-hospital mortality (aRR, 226.56; 95% CI, 3.47-318.22), neonatal intensive care unit admission or death in labor room or operation theatre (aRR, 2.14 (1.36-3.22). CONCLUSION: Monitoring should be coordinated to alleviate the risks of inappropriate fetal growth and the associated adverse consequences.

Incidence, Risk Factors, and Outcomes of Preterm and Early Term Births: A Population-Based Register Study.

Preterm birth (PTB) and early term birth (ETB) are associated with high risks of perinatal mortality and morbidity. While extreme to very PTBs have been extensively studied, studies on infants born at later stages of pregnancy, particularly late PTBs and ETBs, are lacking. In this study, we aimed to assess the incidence, risk factors, and feto-maternal outcomes of PTB and ETB births in Qatar. We examined 15,865 singleton live births using 12-month retrospective registry data from the PEARL-Peristat Study. PTB and ETB incidence rates were 8.8% and 33.7%, respectively. PTB and ETB in-hospital mortality rates were 16.9% and 0.2%, respectively. Advanced maternal age, pre-gestational diabetes mellitus (PGDM), assisted pregnancies, and preterm history independently predicted both PTB and ETB, whereas chromosomal and congenital abnormalities were found to be independent predictors of PTB but not ETB. All groups of PTB and ETB were significantly associated with low birth weight (LBW), large for gestational age (LGA) births, caesarean delivery, and neonatal intensive care unit (NICU)/or death of neonate in labor room (LR)/operation theatre (OT). On the other hand, all or some groups of PTB were significantly associated with small for gestational age (SGA) births, Apgar < 7 at 1 and 5 min and in-hospital mortality. The findings of this study may serve as a basis for taking better clinical decisions with accurate assessment of risk factors, complications, and predictions of PTB and ETB.

Evidence of community pharmacists' response preparedness during COVID-19 public health crisis: A cross-sectional study.

INTRODUCTION: Community pharmacists are often the first point of contact for the public, especially during pandemics. As outlined by the International Pharmaceutical Federation, community pharmacists have an important public health role during this Coronavirus Disease 2019 (COVID-19) public health emergency. We therefore investigated the current practices, response preparedness and professional development needs of community pharmacists in Qatar. METHODOLOGY: A descriptive cross-sectional online 38-item questionnaire-based survey constructed on evidence-based public health roles of pharmacists was conducted between 28 May and 18 June 2020. Questions related to current practices required responses on a 5-point Likert-type scale ranging from "always" to "never". The questionnaire was evaluated for validity and the reliability analysis showed a Cronbach's alpha coefficient of 0.921. RESULTS: The response (n = 311) rate for the survey was 34.2%. More than 75% of pharmacists "always" encouraged and practiced hygiene and social distancing measures. On the other hand, the proportion of pharmacists "always" involved in patient assessment, education or providing information related to COVID-19 and application of evidence-based protocol ranged from 32 to 73%. The vast majority (87-96%) of pharmacists indicated that they needed professional development related to COVID-19. Overall, 77% of pharmacists either "strongly agreed" or "agreed" that they have all the necessary COVID-19 related emergency response preparedness and training. Country from which pharmacists obtained their first degree, and the type of pharmacy where they practice influenced their overall perception toward emergency response preparedness. CONCLUSIONS: Community pharmacists in Qatar are willing to receive additional training related to COVID-19 public health crisis despite being prepared to engage with patients.

A retrospective drug use evaluation of cabergoline for lactation inhibition at a tertiary care teaching hospital in Qatar.

BACKGROUND: Breastfeeding is considered as gold standard for infant nutrition and should be interrupted only when a compelling indication exists. Certain medical conditions such as abortion, stillbirth, HIV infection, or infant galactosemia and certain medications such as chemotherapy necessitate lactation inhibition to protect the health of mother and infant. Drug use evaluation (DUE) studies are done to explore the current practice in a setting and help to identify areas in which further information and education may be needed by clinicians. OBJECTIVE: The aim of this study was to conduct a DUE of cabergoline to assess indications for lactation inhibition, dosage regimen, and its safety. METHOD: A retrospective cross-sectional DUE study was conducted over a period of 4 months from September 1, 2013, till December 31, 2013, at the Women's Hospital, Qatar. All cabergoline prescriptions written for lactation inhibition within 10 days of delivery or abortion were included in the study. A descriptive data analysis was undertaken. RESULTS: Of the 85 patients included, stillbirth (50.6%) was considered as the main reason for lactation inhibition, followed by abortion (27.1%) and neonatal death (12.9%). The remaining 9.4% of the patients had live baby, and the majority of them were prescribed cabergoline for lactation inhibition because their maternal medical conditions required the use of drugs with insufficient safety data (n=6). Seventy-four percent of patients received cabergoline at accurate time and dose. However, 14% of the patients had preexisting hypertensive disorder and 58.3% of them were diagnosed as uncontrolled hypertension. CONCLUSION: The current DUE study found that cabergoline was mainly used to inhibit lactation for patients with stillbirth, abortion, and neonatal death. In mothers who use medications for other medical conditions, benefits and risks of breastfeeding should be carefully balanced before prescribing cabergoline. Current prescribing pattern can be further enhanced through informing health care providers regarding appropriate cabergoline dosage regimen and its safety in patients with uncontrolled hypertension.

Neonatal outcomes after oral administration of antenatal corticosteroid: A case report.

The use of antenatal corticosteroids is associated with reduction in morbidity and mortality rates in preterm delivery. A 34 year-old pregnant woman, gravida 2 para1, was planned for elective cesarean section at 36 weeks of gestation as ultrasound study showed intrauterine growth retardation. She has idiopathic thrombocytopenia and anemia, with suspected hypoplastic anemia. Due to mother's low platelet count, antenatal intramuscular corticosteroids injection was avoided. Instead, oral dexamethasone was given for fetal lung maturity. Baby's Apgar score at 1-min and 5-min was 9 and 10, respectively. The baby girl did not develop respiratory distress syndrome. She had mild transient tachypnea of newborn that needed only mild respiratory support with nasal cannula in room air.