Understanding the Quality of Life Among Patients With Cancer in Saudi Arabia: Insights From a Cross-Sectional Study.

INTRODUCTION: Cancer patients' quality of life (QoL) significantly influences treatment response and mortality rates. Understanding QoL domains among patients with cancer and what affects it can help create interventions that improve QoL and ease patients' experience. This study measures the OoL among patients with cancer and influencing factors. METHODS: A prospective cross-sectional questionnaire-based study included cancer patients aged >18 currently receiving treatment. The questionnaire collected social and economic data, followed by the validated Arabic version of the European Organization for Research and Treatment of Cancer Quality of Life Questionnaire (EORTC-QLQ-C30). Means and standard deviations for described numeric variables and frequencies and percentages described categorical variables. Analysis of variance, F-tests, and P-values were reported. RESULTS: Among 182 cancer patients, 60% were female. Younger patients exhibited higher QoL in physical and role functioning (P = .016 and .03) and experienced more significant financial impact (P = .0144). Females reported more adverse effects from cancer symptoms, including fatigue, nausea, vomiting, and pain (36.7% vs 25.5%, P = .005; 20.6% vs 11.5%, P = .0186; 34.7% vs 25.1%, P = .0281). Single patients had superior QoL in physical functioning compared to others (P = .0127). Patients traveling long distances were more likely to face adverse financial consequences (P = .007). Asthmatic patients exhibited lower QoL in physical, role, and cognitive functioning (72.3 vs 37.8, P = .0147; 76.4 vs 22.2, P = .0024; 84.7 vs 44.4, P = .0038) and reported increased dyspnea and appetite loss (16 vs 55.6 and 26.1 vs 66.7, both P < .05). CONCLUSION: Factors influencing QoL in Saudi cancer patients include age, marital status, gender, hospital distance, and chronic conditions. Thus emphasizing the necessity for personalized care strategies to enhance outcomes and alleviate the overall burden of cancer care.

Spectral detection of thalassemia: a preliminary study.

BACKGROUND: Thalassemias (Thal) are forms of inherited autosomal recessive blood disorders arising out of mutations in the chromosomes 11 or 16. These disorders lead to poor oxygen delivery to blood vessels and consequent splenomegaly, bone deformities, and shorter life spans. The most common detection methods for Thal are complete blood count (CBC) followed by electrophoresis and molecular diagnosis methods, such as high-performance liquid chromatography (HPLC) and polymerase chain reaction (PCR) genotyping. These methods involve sophisticated instrumentations and are cumbersome and expensive. RESULTS: In this study an innovative spectral detection method, based on the fluorescence spectra of a set of biomolecules (tyrosine, tryptophan, nicotinamide adenine dinucleotide, and flavin adenine dinucleotide and porphyrins) found in blood components is presented. An algorithm based on the spectral features of such biomolecules of blood components of 20 Thal patients (10 female and 10 male) and 18 age adjusted normal controls (4 female and 14 male) demonstrate reasonable level of classification with sensitivity and specificity values exceeding 90%. CONCLUSION: This new technique could be of significant value for Thal detection, diagnosis, and subsequent genetic counselling and could be adapted for use in small primary health centres.

Unmet needs and barriers in venous thromboembolism education and awareness among people living with cancer: a global survey.

BACKGROUND: Venous thromboembolism (VTE) is a major preventable cause of morbidity, disability, and mortality in subjects with cancer. A global appraisal of cancer-associated VTE education and awareness is not available. OBJECTIVES: To evaluate VTE-related education, awareness, and unmet needs from the perspective of people living with cancer using a quantitative and qualitative approach. METHODS: This cross-sectional study used data from an online-based survey covering multidimensional domains of cancer-associated VTE. Data are presented descriptively. Potential differences across participant subgroups were explored. RESULTS: Among 2262 patients with cancer from 42 countries worldwide, 55.3% received no VTE education throughout their cancer journey, and an additional 8.2% received education at the time of VTE diagnosis only, leading to 63.5% receiving no or inappropriately delayed education. When education was delivered, only 67.8% received instructions to seek medical attention in case of VTE suspicion, and 36.9% reported scarce understanding. One-third of participants (32.4%) felt psychologically distressed when becoming aware of the potential risks and implications connected with cancer-associated VTE. Most responders (78.8%) deemed VTE awareness highly relevant, but almost half expressed concerns about the quality of education received. While overall consistent, findings in selected survey domains appeared to numerically differ across age group, ethnicity, continent of residence, educational level, metastatic status, and VTE history. CONCLUSION: This study involving a large and diverse population of individuals living with cancer identifies important unmet needs in VTE-related education, awareness, and support across healthcare systems globally. These findings unveil multilevel opportunities to expedite patient-centered care in cancer-associated VTE prevention and management.

Bleeding Diathesis as the Initial Presentation of Chronic Myeloid Leukemia: A Case Series.

Chronic myelogenous leukemia, or CML, is another name for chronic myeloid leukemia (CML), a cancer type that starts in certain bone marrow blood-forming cells. The primary initiator of granulocytic proliferation in CML, a myeloproliferative malignancy, is the BCR-ABL1 fusion protein or Philadelphia chromosome. CML is classified into three stages: chronic, accelerated, and blast. It has been widely recognized that the likelihood of developing CML varies by gender, geography, and age. In the chronic phase of CML (CML-CP), bleeding is a rare sign since the thrombocyte and coagulation functions are still adequate. Uncertainties exist regarding the CML bleeding mechanism. We report four cases of CML-CP in adult patients. The majority of these patients had CML and had idiopathic spontaneous bleeding in multiple locations.

Evidence-based Management of Major Bleeding in Patients Receiving Direct Oral Anticoagulants: An Updated Narrative Review on the Role of Specific Reversal Agents.

The indications of direct oral anticoagulants (DOACs) have expanded over the past 15 years. DOACs are effective and safe oral anticoagulants associated with lower bleeding risks and mortality than vitamin K antagonists. However, DOAC users are prone to a considerable bleeding risk, which can occur at critical sites or lead to severe life-threatening conditions. Recent statistics indicated that major bleeding occurs in up to 6.62 DOAC users per 100 treatment years. With the increased use of DOACs in clinical practice, DOAC-associated major bleeding is expected to be encountered more frequently in the emergency department. The current international guidelines recommend specific reversal agents for the management of DOAC users with severe bleeding to reverse the anticoagulant effect and restore normal hemostasis. An individualized assessment was incorporated in specific clinical situations to guide the decision pathway of major bleeding management. However, specific reversal agents are unavailable or have limited availability in many countries, which is expected to negatively impact the clinical outcomes of DOAC-associated major bleeding. Limited real-world evidence is available from these countries regarding the clinical outcomes of patients with DOAC-associated major bleeding. This narrative review provided an updated assessment of the evidence-based approaches for the management of major bleeding in DOAC users. We also explored the clinical outcomes of patients with major bleeding from clinical settings where specific reversal agents are unavailable.

The Prevalence of the Virulence Genes of Staphylococcus aureus in Sickle Cell Disease Patients at KSUMC, Riyadh, Saudi Arabia.

Staphylococcus aureus in the blood of sickle cell disease (SCD) patients may result in a significant increase in morbidity and mortality. S. aureus strains contain various virulence characteristics, including the ability to create a variety of toxins and develop drug resistance. The current study sought to assess the prevalence of S. aureus in SCD patients and to identify the pathogen's virulence characteristics. Between 2017 and 2021, blood samples and data were collected at King Saud University Medical City (KSUMC) in Riyadh, Saudi Arabia. The Vitek system PCR and gene sequencing methods were used for identification, antibiotic resistance patterns, and genetic analysis. During the study period, 47 S. aureus blood isolates (methicillin-resistant S. aureus (MRSA) 41.6% and non-MRSA 58.4%) were isolated from 2406 SCD patients. The prevalence percentages of virulence genes (finbB, sdrC, sdrD, icaA, coa, nuc, hlg, hla, finbA, clfA, efb, pvl, agr, spa, seb, sea, sec, tst, and sed) among all the isolates from the SCD patients compared with non-SCD patients (control group) were as follows: (100% vs. 100%), (100% vs. 100%), (100% vs. 100%), (100% vs. 87.5%), (100% vs. 81.3%), (100% vs. 100%), (100% vs. 100%), (100% vs. 100%), (97.9% vs. 81.3%), (97.9% vs. 100%), (97.9% vs. 87.5%), (54.3% vs. 56.3%), (46.8% vs. 75%), (42.6% vs. 43.8%), (27.7% vs. 0%), (25.5% vs. 12.5%), (12.8% vs. 6.3%), (4.3% vs. 12.5%), and (4.3% vs. 0%). Regarding the resistance genes (plaZ, mecA, ermA, ermC, tetK, tetM, and ermB) of the S. aureus strains isolated from the SCD patients compared with non-SCD patients (control group), the prevalence percentages were as follows: (100% vs. 100%), (100% vs. 56.3%), (0% vs. 31.3%), (31.9% vs. 18.8%), (40.4% vs. 25%), (0% vs. 0%), and (0% vs. 0%). As for the antibiotic (ampicillin, penicillin, amoxicillin, cefazolin, imipenem, oxacillin, erythromycin, tetracycline, azithromycin, ciprofloxacin, moxifloxacin, and levofloxacin) resistance of the S. aureus strains isolated from the SCD patients compared with non-SCD patients (control group), the prevalence percentages were as follows: (100% vs. 100%), (97.9% vs. 100%), (72.3% vs. 25%), (68.1% vs. 37.5%), (68.1% vs. 25%), (66% vs. 25%), (36.2% vs. 18.8%), (23.4% vs. 12.5%), (19.1% vs. 12.5%), (17% vs. 12.5%), (14.9% vs. 25%), and (10.6% vs. 18.7%). This study concluded that several virulence genes were present in the S. aureus strains recovered from the SCD patients at KSUMC, with all the isolates containing the finbB, sdrC, sdrD, icaA, coa, nuc, hlg, and hla genes.

Sickle cell disease subphenotypes in patients from Southwestern Province of Saudi Arabia.

Sickle cell disease (SCD) is common in the Eastern and Southwestern (SW) Provinces of Saudi Arabia. We studied 159 patients with SCD to better characterize its phenotype in the SW Province, where patients usually have a HBB haplotype of African origin. All cases had history and examination, chart review, and laboratory testing. Blood tests were obtained during steady state and included: complete blood count, reticulocytes, hemoglobin electrophoresis, lactate dehydrogenase, and G6PD level. HBB haplotype and presence of α-thalassemia were also determined. Frequency of various SCD complications was as follows: painful episodes of variable severity occurred in majority of patients (98%), osteonecrosis (14%), acute chest syndrome (22%), splenic sequestration (23%), gallstones (34%), stroke (7.5%), priapism (2.6%), serious infections (11.5%), and persistent splenomegaly (11%) beyond 5 years of age. No patient had leg ulcer. History of asthma and high steady state white blood cells count were associated with increased risk of acute chest syndrome. Coinheritance of α-thalassemia was associated with a lower frequency of gallstones. Higher fetal hemoglobin level was associated with persistent splenomegaly but not with other complications. Splenic sequestration was more common among males and was associated with lower steady state hemoglobin. SCD phenotype in the SW Province is variable and comparable with African Americans except for the rarity of priapism and the absence of leg ulcers. Fetal hemoglobin level was not associated with SCD vaso-occlusive complications. New genetic modifiers and environmental factors might modulate the phenotype of SCD in Saudi Arabia.

A retrospective study of real-world effectiveness and safety of rivaroxaban in patients with non-valvular atrial fibrillation and venous thromboembolism in Saudi Arabia.

Background: Real-world evidence on factor Xa inhibitor (rivaroxaban) prescribing patterns, safety, and efficacy in patients with non-valvular atrial fibrillation (NVAF) and venous thromboembolism (VTE) is rare. Herein, we sought to examine the above outcomes in the largest academic center in the Kingdom of Saudi Arabia (KSA). Methods: This is a retrospective observational study designed to examine the prescribing pattern, safety and real-world effectiveness of the factor Xa inhibitor rivaroxaban in patients with NVAF and VTE. Data on rivaroxaban prescriptions were collected and analyzed. Bleeding outcomes were defined as per the International Society on Thrombosis and Hemostasis (ISTH) definition. Results: A total of 2,316 patients taking rivaroxaban recruited through several departments of King Saud University Medical City (KSUMC). The mean age was 61 years (±17.8) with 55% above the age of 60 and 58% were females. Deep vein thrombosis and pulmonary embolism (VTE) was the most prevalent reason for prescribing rivaroxaban, followed by NVAF. A total daily dosage of 15 mg was given to 23% of the patients. The incidence rate of recurrent thrombosis and recurrent stroke was 0.2%. Furthermore, rivaroxaban had a 0.04 percent incidence rate of myocardial infarction. Half of the patients with recurrent thrombosis and stroke were taking 15 mg per day. The incidence rate of major bleeding was 1.1%. More over half of the patients who experienced significant bleeding were taking rivaroxaban at a dosage of 20 mg per day. According to the HAS-BLED Score (>2 score), 48 percent of patients who experienced significant bleeding had a high risk of bleeding. Non-major bleeding occurred in 0.6% of cases. Similarly, 40% of patients with non-major bleeding were taking rivaroxaban at a dosage of 20 mg per day. According to the HAS-BLED Score, just 6.6% of these individuals had a high risk of bleeding. 93.4% of the patients, on the other hand, were at intermediate risk. Conclusion: The prescription of rivaroxaban in this real-life cohort study differs from the prescribing label and the outcomes of a phase 3 randomised clinical trial. However, for individuals with VTE and NVAF, the 20 mg dose looked to be more efficacious than the pivotal trial outcomes. Furthermore, among patients with VTE and NVAF, rivaroxaban was linked to a decreased incidence of safety events such as recurrent thrombosis, recurrent stroke, MI, major bleeding, and non-major haemorrhage in a real-world environment.

The Role of Reticulocyte Hemoglobin Content for the Diagnosis of Functional Iron Deficiency in Hemodialyzed patients.

The effectiveness of reticulocyte hemoglobin content (CHr) had been reported to detect early functional iron deficiency especially among Chronic kidney disease (CKD) patients. CHr is more superior to classic biochemical indices in reflecting transient iron-deficiency status, therefore improving diagnosis and treatment. This study was conducted to determine the sensitivity of CHr in the diagnosis of functional iron deficiency (FID) in hemodialyzed patients. One hundred hemodialyzed patients along with 60 healthy controls were recruited and blood specimens were collected. Venous blood was used for hematological and biochemical investigations collected via 3 ml lavender-top tubes for hematological tests including CBC, blood film, ESR and CHr, and red-top tube for biochemical tests including TIBC, SF and CRP. A statistically significant decrease was noted in CHr values between hemodialysis patients and the control group (24.8 ± 2.0 pg vs. 30.9 ± 1.3 pg, p<0.001). CHr values showed a significant correlations with RBCs, Hb- hemoglobin, Hct- hematocrit level, MCV- mean corpuscular volume, MCH- mean corpuscular hemoglobin, MCHC, RDW- red cell distribution width , SI-Serum Iron, TIBC- Total iron binding capacity and TSAT- Transferrin saturation. The present study showed that CHr in comparison to the conventional hematological and biochemical markers commonly used to diagnose iron deficiency.

Evaluating the novel parameters for assessing the LAA function and thrombus formation with nonvalvular atrial fibrillation.

The dysfunction of left atrial appendage (LAA) is prone to form thrombus when atrial fibrillation (AF) sustained more than 48 h. Traditional 2D-TEE (transesophageal echocardiography) can not accurate evaluate the function of LAA. The purpose of this study is to analyze the relationship of LAA function parameters and thrombus formation in patients with non-valvular atrial fibrillation (NVAF) by real-time three-dimensional transesophageal echocardiography (RT-3D-TEE). High risk patients can be identified according to the characteristics of ultrasonic index in patients with left atrial appendage thrombosis, which has important clinical value and significance in the risk assessment, guiding treatment and judging prognosis. We examined the relationship between the echocardiographic parameters of LAA function and the incidence of thrombus in 102 NVAF patients. They underwent RT-3D-TEE and left atrial appendage thrombus (LAAT)/severe spontaneous echocardiographic contrast (SSEC) was found in 67 patients (thrombus group) but absent in the remaining 35 patients (non-thrombus group). After measured by QLAB software, the LAA functional parameters were significantly associated with LAAT/SEC formation. Univariate analysis indicated that AF time, LAD, LVEF, LAA-OAmax, LAAVmax, LAAVI and LAAEF demonstrated a positive association (P < 0.05). However, logistic regression analysis identified that AF time (OR:1.73, P < 0.05)、LAAEF (OR:4.09, P < 0.01)and LAAVI (OR:3.28, P < 0.01) were independent predictors of LAAT/SSEC. In patients with nonvalvular atrial fibrillation, echocardiographic parameters of LAA function are significantly associated with LAAT/SSEC.

Hemostatic profile detailing in apparent VWD cases: A cross sectional study.

The von willebrand disease (vWD) accounts to be one of the most common hereditary bleeding ailment that amounts its incidence to almost 1.5% of normal population. It is mostly associated with a defect in primary hemostasis as well as secondary defect in coagulation factor VIII as diagnosis of vwd happened to be challenging with earlier diagnostic criteria's. Testing Vwd in menorrhagia patients was not at ease. A cross-sectional study was conducted in female patients who have visited obstetrics and gynecology clinic at King Saud University Medical City (KSUMC), Riyadh, Saudi Arabia. The inclusion criteria consist of adult female patients between 16 and 45 years old with menorrhagia. A sample of 45 patients were screened and selected for the above-mentioned study. The SPSS Statistical analysis package was performed to analyze the data's. The fisher's exact test was conducted to compare the demographic variables. The independent samples t-test was conducted to compare the means of subjects. The P value of ≤0.05 considered as statistically significant. The cases manifested with a history of bleeding during periods stretching from 7 to 90 days. The vWD was reported in 6.6 % (n = 3) women out of the total 45 patients. The vWF: Ac mean ± SD (51.4 ± 6.3) and vWF: Ag Mean ± SD (93 ± 67) were significantly lesser in vWD patients with that of non-vWD (98.7 ± 22.6) vs (116 ± 42.4) (p = 0.027) (p = 0.032) respectively. WBC, ESR, MCV, MCH, Hemoglobin, PLT count, INR, PT, APTT and FVIII showed no significant difference among the groups (p > 0.05).

Factor XII deficiency in asymptomatic Saudi population: A retrospective cohort study.

Factor XII (FXII) deficiency is a rare genetic blood disorder. It can lead to a higher risk of developing deep vein thrombosis or acquired thrombotic disorders than the general population. This retrospective study evaluated patients who opted for surgery and were found to have abnormal clotting profiles and clotting factors on preoperative routine blood. Patients were included regardless of whether they were symptomatic or asymptomatic. The cohort comprised 115 patients with a mean FXII level of 128.04 ± 36.93%. Two (1.79%) patients, both of whom were women, had FXII levels <60%. The mean FXII level was 58 ± 1.41 (range, 57-59%) in this group. The present study shows the prevalence of FXII in the asymptomatic Saudi population. The results provide the normal range for FXII. The findings of our study provide the basis for diagnosing F XII deficiency in the asymptomatic Saudi population.

Evaluation and characterisation of Chronic myeloid leukemia and various treatments in Saudi Arabia: A retrospective study.

BACKGROUND: Chronic myeloid leukemia (CML) is a clonal BCR-ABL1-positive myelo-proliferative disorder resulting from an acquired genetic mutation, characterized by the presence of the Philadelphia (Ph) chromosome. CML is associated with significantly high granulocyte numbers in the bone marrow and peripheral blood. MATERIALS AND METHODS: This retrospective study conducted at the Hematology Unit of King Saud University Medical City aimed to evaluate the incidence and characteristics of CML and the various treatments in Saudi Arabia. We have evaluated the demographic, clinical, and hematological data of 56 consecutive patients who visited the hospital from Jan 2012 to Jan 2018. RESULTS: The diagnosis and stage of CML were determined based on the World Health Organization criteria, following polymerase chain reaction analysis of bone marrow aspirates. Our study group had equal numbers of genders with a age mean of 43.3+18.1 years. The predominance of younger patients and equal incidence in males and females could be due to the racial and socioeconomic disparities among our patients compared to those in previous studies. While the most predominant symptom was fatigue and bone pain, the most common clinical sign was hepato-splenomegaly, followed by remarkable weight loss, and epistaxis. CONCLUSION: A patient with an increased WBC count, abdominal pain, left side distension, and hepato-splenomegaly should clearly be evaluated for CML.

Secondary hemosiderosis presented by porphyria cutanea tarda in a kidney dialysis patient: A case report.

A 68-year-old woman with chronic kidney disease receiving dialysis and iron supplementation presented to our hospital with painful blisters, fragile skin, and changes to skin pigmentation on the dorsal side of both upper and lower limbs. Skin biopsy findings and an increase in urine porphyrins confirmed the diagnosis of porphyria cutanea tarda. Upon examination, extremely high serum ferritin levels (6000 µg/L) suggested iron overload. Oral iron supplementation was immediately discontinued, and the patient received treatment with the iron chelators deferoxamine, 10 mg/kg/day intravenously for 4 days, and deferasirox, 540 mg/day orally. After a 4-month follow-up, ferritin levels were normal (97.7 µg/L) and the cutaneous manifestations of porphyria cutanea tarda had improved. Complete remission has been maintained for the last 2 years, and the patient's liver and heart function are normal. This case of porphyria cutanea tarda caused by secondary hemosiderosis highlights the potential toxicity of iron accumulation as a result of excessive iron supplementation. Although not approved for the treatment of patients on hemodialysis, we report the efficacy of deferasirox without any adverse effects in this case. We also stress the importance of the close monitoring of serum iron levels in kidney dialysis-and indeed all iron-supplemented-patients to avoid potential hepatic, cardiac, and endocrine damage.

Features and incidence of thromboembolic disease: A comparative study between high and low altitude dwellers in Saudi Arabia.

To estimate and compare the incidence of thromboembolic disease among patients who are clinically suspected for VTE among high and low altitude dwellers in Saudi Arabia. A prospective study conducted over two years (2011-2013) conducted in two different geographical areas in Saudi Arabia; Abha City and Riyadh City. Patients clinically suspected with deep vein thrombosis and pulmonary embolism was recruited to the study. A detailed social, medical and laboratory investigations were taken from all patients including lifestyle, occupation and smoking. A total of 234 patients participated in the study. There were 146 (62.4%) females and 88 (37.6%) males. Mean age was 51.7 years. A 56.8% incidence of DVT was seen among high altitude dwellers compared to 13.0% among low altitude dwellers. Also, a 12.6% incidence of PE was documented among high altitude dwellers, compared to 4.1% of the low altitude dwellers. VTE was significantly more among high altitude dwellers (81.9%) compared to low altitude dwellers (21.9%). Mean WBC count was significantly higher among the high altitude dwellers (10.8 ± 9.7 vs. 8.2 ± 3.4, p = 0.043). Mean platelet count was significantly higher among the high altitude dwellers compared to the low altitude dwellers (327.4 ± 162.4 vs. 212.0 ± 158.9, p = 0.005). The likelihood of developing VTE is greater among people who resided at moderate to high altitude for prolonged periods of time. The changes in the factors for coagulation including platelet counts may not reflect the true status of hypercoagulability especially if patients have stayed longer in high altitudes because of physiological adaptation to the environment.

The clinical and laboratory manifestations profile of antiphospholipid syndrome among Saudi Arabia population: Examining the applicability of Sapporo criteria.

Antiphospholipid syndrome is a organized autoimmune disease presented with vascular thrombosis and pregnancy morbidity. The Sapporo classification criteria of APS were revised in 2006 and are used as the main diagnosis guideline, which validity as standard measurements is still in debate. This study observe the clinical and laboratory indices of APS among Saudi patients. This is a retrospective study hospital-based population. The clinical and Laboratory manifestations of diagnosed APS patients from electronical medical records identifies by ICD-9 code 795.79 in the King Saud University Medical City, Riyadh, Saudi Arabia, between 1990 and 2012. We selected patients with ICD-9 code 795.79 as. Sapporo criteria applied to all patients, then divided into cases fulfilled criteria and cases failed the criteria. To notice the difference in clinical and laboratory indices and comorbidities between the two groups, the T-test was performed and Logistic regression for the fulfilled criteria and clinical indices of vascular thrombosis, DVT/PE, recurrent, and pregnancy morbidity. A total of 72 (90%) females and 8 (10%) males, with the female-to-male ratio 9:1. The mean (±SD) age at diagnosis was 28.1 (±8.7) years (range 11-63 years). There were 22 patients (27.5%) attained the revised criteria (APS confirmed) and no significant difference between the two groups was observed (p > 0.2). However, we found Sapporo confirmed APS cases had significantly higher percentage of serological manifestation presence than clinically diagnosed APS cases. Though there is no statistically significance, Sapporo confirmed APS cases had advanced odds of undergoing vascular thrombosis (OR = 1.61, 95%CI) and DVT/PE (OR = 1.53, 95%CI) and lesser odds of undergoing recurrent DVT/PE (OR = 0.67, 95%CI) and pregnancy morbidity (OR = 0.63, 95%CI) than the clinically diagnosed APS cases. Over 70% of the study population with diagnosed APS did not accomplish the revised Sapporo criteria due to negative laboratory manifestations, which reflects heterogeneous but not degreed disease severity profiles.

Association between cigarette & shisha smoking and the severity of polycythemia: A cross sectional study.

Tobacco cigarette smoking is assumed to be a key reason of death all over the world. Smoking had both severe as well long-lasting effects on hematological constraints. As per the data available from World Health Organization, every year nearly 5 million individuals die around the world due to the diseases triggered by smoking. Cigarette smoking is linked with an elevated risk of cardiovascular diseases. To examine the association between shisha or cigarette smoking and the severity of polycythemia, present study is a cross-sectional organized at King Saud University Medical City during the period from October 2017 to April 2018. Participants were patients who have hemoglobin level above 160 g/L on multiple reading in KSUMC between May 2015-February 2018. The sample size (227 patients) was computed on single proportion formula, Data were collected through questionnaires and from medical record of the patients. A pilot study was conducted to evaluate the validity of the questionnaire. A statistical analysis was performed using SPSS 21.0 version. A p-value of ≤ 0.05 considered as statistically significant. Out of 227 study subjects, 86 (37.8%) were smokers, (61.6%) were cigarette smokers while (29%), shisha smokers. Total (9.3%) were smoking both cigarette and Shisha. 29% patients had high normal hemoglobin between the ranges of (160-168 g/L), 17.6% patients had pre-polycythemic hemoglobin between the range of (169-171 g/L) and 53% patients were having polycythemic hemoglobin (>172 g/L). The hemoglobin level in non-smokers was 168.74 g/L, hemoglobin level in cigarette smokers was170.7 g/L, hemoglobin level in shisha smokers was 171.4 g/L while hemoglobin level in those who smokes both cigarette and shisha was 175 g/L. Smoking has adverse effects on hemoglobin. Shisha or cigarette Smoking is associated with increase in the hemoglobin levels and the severity of polycythemia. The findings may help in raising the awareness of tobacco smokers.

Utilizing Whole-Exome Sequencing to Characterize the Phenotypic Variability of Sickle Cell Disease.

BACKGROUND: Sickle cell disease (SCD) is a monogenic disease that has wide variety of phenotypes with both and environmental factors contributing to its severity. METHODS: We performed whole-exome sequencing (WES) in 22 Saudi SCD patients to identify variants that could explain differences in disease phenotypes. All variants, except those that were benign and likely benign, described in the ClinVar database, were considered in our analysis. Gene-based association testing using sequence kernel association optimal unified test (SKAT-O) with small sample adjustment was performed to evaluate the effect of multiple variants in genes on SCD phenotypes. RESULTS: The mean age of participants was 28 (range, 10-48 years). All patients were homozygous for the sickle cell mutation. The Benin haplotype was present in 15 patients and the Arab-Indian haplotype in 7 patients. One patient who had both SCD and CHARGE association was heterozygous for pathogenic mutation p.Arg987Ter in the CHD7 gene. One SCD individual who had a stroke was a carrier of the pathogenic variant p.Asp36Tyr in the VKORC1 gene which is, associated with warfarin resistance. Two patients with steady hemoglobin levels of 7.5 and 7.1 g/dL were carriers of the pathogenic mutation p.Gly140Ser in the RPL5 gene that is associated with Diamond-Blackfan anemia. None of the patients were transfusion dependent. A heterozygous pathogenic mutation in the LDLR gene associated with autosomal dominant familial hypercholesterolemia was present in one patient with deep venous thrombosis, although their cholesterol level was normal. One individual with stroke was a carrier for the p.Arg284Ter variant in the NLRP12 gene, which is associated with familial cold autoinflammatory syndrome 2. Another patient with stroke and a pulmonary embolism was heterozygous for the p.Pro106Leu variant of the MPL gene, which has been associated with thrombocytosis. Coding variants in the GOLGB1, ENPP1, and PON1 genes showed no association with stroke in our study. SKAT-O analysis did not explain SCD heterogeneity. CONCLUSION: WES provided limited information to explain the severity of SCD. Whole genome sequencing, epigenetic studies, and assessment of environmental factors might expand our knowledge of SCD heterogeneity.

Thromboembolic events in patients with inflammatory bowel disease.

BACKGROUND/AIMS: Inflammatory bowel disease (ulcerative colitis and Crohn's disease) is characterized by a chronic inflammatory condition, and is accompanied by abnormalities in coagulation and a hyper-coagulable state. This study was conducted to examine the risk factors for developing Thromboembolic Events in Inflammatory Bowel Disease (IBD) in a population with prevalent consanguinity. PATIENTS AND METHODS: Patients with a definitive diagnosis of IBD who were seen in the gastroenterology clinic of King Khalid University Hospital (Riyadh, Saudi Arabia) from 2010- to 2012, were asked to participate in this prospective cohort study, and were followed for one 1 year. Data was collected using specifically designed case report forms (CRF) by trained research personnel. RESULTS: A total of 100 Saudi patients with IBD were studied. There were 51 (51%) women and the mean ± standard deviation (SD) age of the group was 31.24 ± 10.78 years. Those with Crohn's disease constituted 72% of the patients, and 28% had ulcerative colitis. Eight patients (8%) had at least one Thrombotic Event ([six deep venous thrombosis (DVT), and two pulmonary embolism (PE)]. Family history of deep venous thrombosis was present in 5%, and family history of pulmonary embolism (PE) in 4% of the patients. After adjusting for age and gender, a family history of Thrombotic event was identified as to be the only statistically significant predictor of thrombosis in IBD patients (RR = 9.22, 95% CI: 2.10--40.43). CONCLUSION: In a population with high consanguinity, Thromboembolic events (DVT and PE) had a prevalence of 8% among IBD patients, positive family history of pulmonary embolism was a predictor of thrombosis. Further studies are needed to explore the role of genetic factors in this population.