A Rare Case of Congenital Nephrogenic Diabetes Insipidus Associated with Aquaporin 2 Gene Mutation and Subsequent Acute Lymphoblastic Leukemia: Impact of Steroids on Kidney Function.

BACKGROUND Nephrogenic diabetes insipidus (NDI) is a rare renal disorder that can be congenital, and is caused by mutations in either aquaporin 2 or arginine vasopressin receptor 2, or it can be secondary to kidney disease or electrolyte imbalance. The clinical signs of NDI include polyuria, compensatory polydipsia, hypernatremic dehydration, and growth retardation without prompt treatment. In this report, we present the case of a patient with congenital NDI who was later diagnosed with acute lymphoblastic leukemia (ALL). With dexamethasone treatment, he had uncontrolled polyuria and polydipsia. Our aim was to concentrate on the impact of steroids on the kidneys. CASE REPORT Our patient presented at the age of 9 months with signs of severe dehydration that were associated with polyuria. His laboratory examinations revealed hypernatremia and decreased urine osmolality. He was diagnosed with NDI and his exome sequence revealed a homozygous mutation at the nucleotide position AQP2 NM_000486.6: c.374C>T (p.Thr125Met). He was treated with hydrochlorothiazide and amiloride. Then, at age 19 months, he presented with gastroenteritis and a complete blood count (CBC) showed high white blood cell count and blast cells. He was diagnosed with (ALL) and began receiving chemotherapy, during which again developed polydipsia and polyuria, which could not be controlled with an increased dosage of hydrochlorothiazide. CONCLUSIONS We report a rare case of NDI caused by a missense mutation in the aquaporin 2 gene. One year later, the child developed ALL, and treatment with dexamethasone led to an uncompensated state of polydipsia and polyuria.

An Unusual Complication of Measles Infection in a Pediatric Patient: A Case Report of Measles-Induced Hemophagocytic Lymphohistiocytosis (HLH) From Jordan.

Measles is a highly contagious infection that leads to many serious complications. Despite the significant global effort to eradicate it, it still represents a major threat due to suboptimal vaccination coverage, especially after the coronavirus disease 2019 (COVID-19) pandemic that affected all routine childhood vaccinations. One of its fatal complications, which has been reported a few times in the literature, is hemophagocytic lymphohistiocytosis (HLH). We discuss a case of a 14-month-old unvaccinated female patient who developed measles-induced HLH and was treated with intravenous immunoglobulins (IVIG) and steroids; unfortunately, she developed multiorgan failure and passed away before chemotherapy could be initiated.

Cytomegalovirus and Epstein-Barr Virus Co-infection in a Patient With Chronic Granulomatous Disease Co-existing With Familial Mediterranean Fever and Early-Onset Inflammatory Bowel Disease: A Case Report.

The association between primary immunodeficiencies and autoinflammatory disorders has been popularized over the past decade. In this report, we illustrated the co-infection of cytomegalovirus (CMV) and Epstein-Barr virus (EBV) in a three-year-old Jordanian male patient with an extremely rare variant of the CYBB gene (c.125C>G, p.Thr42Arg) associated with chronic granulomatous disease (CGD) coexisting with familial Mediterranean fever (FMF). CGD and FMF co-existence induced early-onset inflammatory bowel disease mainly resembling Crohn's disease.

Clinical Characteristics and Outcomes of Children and Adolescents With Cancer Infected With SARS-CoV-2 at a Tertiary Care Medical Center in Jordan.

BACKGROUND: Our knowledge about severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is still evolving; its effects on children with cancer need to be studied more. The aim of this study is to present our experience with SARS-CoV-2 infection in this population and to highlight specific complications and outcomes. MATERIALS AND METHODS: This is a retrospective and prospective observational study, which involved 21 cancer patients below the age of 18 years in north Jordan. Data regarding their age, sex, cancer type and progression, phase of treatment, and others were collected and reviewed. Patients were classified into confirmed, probable, and suspect according to the Centers for Disease Control and Prevention's (CDC) 2021 classification. RESULTS: A total of 21 patients with malignancy were included. Ten patients were males (48%). Mean age of 8.8 years (3 mo to 18 y). Two patients (9.5%) had died; one (4.7%) death was coronavirus disease 2019 (COVID-19)-related and the other one (4.7%) was due to cancer progression. Two patients (9.5%) had multisystem inflammatory syndrome in children. Both disease progression and new malignancies were documented in 11 (52%) of our patients. CONCLUSIONS: Diagnosis of COVID-19 should not distract physicians from investigating new malignancy or relapse as they may come together or may be related to COVID-19 infection. More studies are needed to identify the contribution of SARS-CoV-2 in the pathogenesis of cancer.

Effects of COVID-19 on Pediatric Cancer Care: A Multicenter Study of 11 Middle Eastern Countries.

During the COVID-19 pandemic, major challenges are facing pediatric cancer centers regarding access to cancer centers, continuity of the anti-cancer therapy, hospital admission, and infection protection precautions. Pediatric oncologists actively treating children with cancer from 29 cancer centers at 11 countries were asked to answer a survey from May 2020 to August 2020 either directly or through the internet. COVID-19 pandemic affected the access to pediatric cancer care in the form of difficulty in reaching the center in 22 (75.9%) centers and affection of patients' flow in 21 (72.4%) centers. Health care professionals (HCP) were infected with COVID-19 in 20 (69%) surveyed centers. Eighteen centers (62%) modified the treatment guidelines. Care of follow-up patients was provided in-hospital in 8(27.6%) centers, through telemedicine in 10 (34.5%) centers, and just delayed in 11 (38%) centers. Pediatric oncologists had different expectations about the future effects of COVID-19 on pediatric cancer care. Seventy-six percent of pediatric oncologists think the COVID-19 pandemic will increase the use of telemedicine. Fifty-five percent of pediatric oncologists think if the COVID-19 pandemic persists, we will need to change chemotherapy protocols to less myelosuppressive ones. Collaborative studies are required to prioritize pediatric cancer management during COVID-19 era.

Successful management of dural venous sinus thrombosis secondary to ulcerative colitis in a pediatric patient: A case report.

Cerebral venous sinus thrombosis secondary to inflammatory bowel disease is a clinically rare and challenging entity with serious sequela. We preset a case of a 15-year-old female patient who was recently diagnosed with ulcerative colitis and had been suffering from headache for 4 days duration. During the diagnostic workup, computed tomography (CT) venography revealed Dural venous sinus thrombosis in the left transverse sinus extending into the left sigmoid sinus and the upper third of the left internal jugular vein as well as into the sinus confluence with non-occlusive filling defects in the superior sagittal sinus. Anticoagulant therapy with enoxaparin was initiated and the patient is being monitored in an outpatient setting regularly. Post-discharge disease course was uneventful. CT venography performed after 3 months illustrated partial recanalization of both left transverse and sigmoid sinuses. CVST is a rare extraintestinal manifestation of ulcerative colitis with significant morbidity and mortality which requires a high level of suspicion to establish a clear diagnosis. In spite the fact that CVST is rare, it should be ruled out in inflammatory bowel disease patients with new onset seizures, headache, along with focal, and non-focal neurologic symptoms.

Spectrum of Myelodysplastic Syndrome in Patients Evaluated for Cytopenia(s). A Report from a Reference Centre in Saudi Arabia.

BACKGROUND/OBJECTIVE: Myelodysplastic syndrome (MDS) is a clonal disorder of hematopoietic stem cells, characterized by ineffective hematopoiesis, peripheral cytopenias along with hypercellularity of the bone marrow, and marked dysplastic features. Establishing MDS diagnosis is difficult due to nonspecific clinical presentation and imprecise morphological criteria. In anticipation to improve the diagnostic approach in this field, we aimed to characterize the clinical and morphological features of patients presented with cytopenias with a special focus on MDS. METHODS: We comprehensively reviewed all medical record of patients who were referred to the hematology laboratory at KFSH-RC, Riyadh, Saudi Arabia, between January 2009 and March 2016 for evaluation of bone marrow aspirates and trephine biopsies due to severe and persistent cytopenia(s) to rule out MDS. RESULTS: A total of 183 patients, 155 adult and 28 pediatric, were identified. In the adult group, MDS was diagnosed in 82 (52.9%) patients, with a male-to-female (M:F) ratio of 1.6:1 and mean age at diagnosis of 50 years. According to the World Health Organization (WHO) 2017 criteria, MDS subtypes were as follows: MDS with single lineage dysplasia (SLD, 5%), MDS with ring sideroblasts and SLD (MDS-RS-SLD 7%), MDS with multilineage dysplasia (MDS-MLD 21%), MDS with deletion of chromosome 5q (MDS del(5q), 2%), MDS unclassifiable (MDS-U7%), hypoplastic MDS (h-MDS 4%), MDS with excess blasts-1 (MDS-EB1, 20%), MDS with excess blasts-2 (MDS-EB2, 28%), and therapy-related MDS (6%). Laboratory and morphological features were described. In both groups, cytogenetic abnormalities were classified according to the Revised International Prognostic Scoring System cytogenetic risk groups. In adults, the dominating cytogenetic abnormalities were monosomy 5 and monosomy 7 seen in 20.7% and 24.4% of patients, respectively. Peripheral cytopenia not due to MDS was diagnosed in 54 (34.8%) patients, with a mean age of 43 years and M:F ratio of 1:1. The cause of these cytopenias were as follows: bone marrow failure (BMF, 22%), peripheral destruction (20%), drug induced (20%), anemia of chronic disease (16%), B12 deficiency (7%), infection (7%), paroxysmal nocturnal hemoglobinuria (4%), idiopathic cytopenia of undetermined significance (2%), and idiopathic dysplasia of undetermined significance (2%). A definite diagnosis of MDS was not possible in 19 patients due to insufficient clinical data. In the pediatric group, MDS was diagnosed in 14/28 (50%) patients, with M:F ratio of 1.8:1 and mean age at diagnosis of 4 years. MDS subtypes (WHO 2017) in 14 patients were as follows: refractory cytopenia of childhood (RCC, 42.8%), MDS-EB1 (42.8%), and MDS-EB2 (14.2%). Laboratory and morphological features were described. The prevalent cytogenetic abnormality was monosomy 7 in six/14 (42.8%) patients. Cytopenias due to other causes were diagnosed in eight/28 patients (28.5%), with a mean age of 6.5 years and M:F ratio of 1.6:1. The causes of non-MDS related cytopenia were: congenital BMF (4 patients), peripheral destruction (2 patients), immune deficiency (1 patient), and viral infection (1 patient). A definite diagnosis of MDS could not be made in six/28 (21.4%) patients. CONCLUSION: MDS is the cause of cytopenia in a significant number of patients referred for evaluation of cytopenias, appears at younger age, and tends to be more aggressive than that reported in international studies. Anemia, dysplastic neutrophils in the peripheral blood, and dysplastic megakaryocytes in the bone marrow trephine biopsy are the most reliable features in distinguishing MDS from other alternative diagnoses.

Comparison of 18F-labelled fluoro-2-deoxyglucose-PET with conventional computed tomography for staging and response assessment in paediatric and adult patients with nodular lymphocyte-predominant Hodgkin's lymphoma.

BACKGROUND: Nodular lymphocyte-predominant Hodgkin lymphoma (NLPHL) is an uncommon subtype of Hodgkin lymphoma. Data are limited regarding 18F-labelled fluoro-2-deoxyglucose (FDG)-PET use in NLPHL. We are reporting our experience with FDG-PET utility in staging and response assessment NLPHL patients. METHODS: We retrospectively studied a population of all newly diagnosed or relapsed/refractory patients who underwent both pre-treatment contrast-enhanced computed tomography (CeCT) and an FDG-PET and also at the end of planned treatment. RESULTS: We identified 68 patients found to have in total 312 scans, 78 paired pre-therapeutic and post-treatment CeCT and FDG-PET scans. Among them, 55 were male, with a median follow-up was 48 months. Median SUV-max was 8.3 (2.0-21.0). FDG-PET and CeCT were concordant in 80% (62/78) of staging scans. In 20% (16/78) of patients in whom a discordance was observed, FDG-PET resulted in upstaging in 13 scans and downstaging in 3 scans. The sensitivity of CeCT was 92% for nodal staging and 42% for extralymphatic staging when compared to FDG-PET. The specificity of CeCT was 98% as compared to FDG-PET. For response assessment, there was poor agreement between the CeCT and FDG-PET in assigning complete remission of disease scores as FDG-PET was able to identify the absence of disease despite the presence of a radiologically evident residual mass on CeCT. The sensitivity for CeCT compared to FDG-PET was 100% while the specificity was 43% for detection of post-treatment response. CONCLUSION: For NLPHL, pre-therapeutic FDG-PET scan is better than CeCT staging. FDG-PET has much better specificity for response assessment than CeCT.

Implications of intrachromosomal amplification of chromosome 21 on outcome in pediatric acute lymphoblastic leukemia: Does it affect our patients too?

Intrachromosomal amplification (iAMP) of chromosome 21 entity is associated with a dismal outcome in B cell Acute Lymphoblastic Leukemia (B-ALL). This cytogenetic abnormality is caused by a novel mechanism; breakage-fusion-bridge cycles followed by chromothripsis along with major gross rearrangements in chromosome 21. Charts of B-ALL diagnosed at King Faisal Specialist Hospital and Research Center between 2005 and 2015 were reviewed. iAMP is a rare entity occurring at around 2.4% of all pediatrics BALL. No statistically significant difference was found among patients with iAMP21, patients with extra copies of 21 and other patients with B-ALL. The reported adverse prognostic effect of iAMP21 could be due to other coexistent adverse factors, including older age at the time of diagnosis. The most common associated abnormality in our population in addition to the hyperdiploidy was ETV6/RUNX1.

Incidence, clinical distribution, and patient characteristics of childhood cancer in Saudi Arabia: A population-based analysis.

PURPOSE: Information regarding the incidence and patterns of childhood malignancies is disproportionately overrepresented by high-income countries, representing mainly the Caucasian population. There is a need to evaluate and disseminate information for other ethnicities, particularly from the Middle East. METHODS: Data from the National Cancer Registry, Saudi Arabia (SA-NCR), for pediatric patients (age 0-14 years) diagnosed between 2005 and 2009 and for similar patients at our institution during the same period were analyzed. Population numbers reported in the 2007 national census were used to calculate the annual incidence of childhood cancer. RESULTS: Data from SA-NCR on 3885 patients were included in this analysis. The median age was 5.58 years, and 57.3% were males. The annual age-specific cancer incidence rate (ASR) for children in SA is 99.83 per million population; ASR per million for lymphoid leukemia is 25.75, 12.05 for brain tumors, and 9.82 for Hodgkin lymphoma. Of all childhood cancers in SA, 35% were treated at our institution. The five-year overall survival for these 1350 patients is 74.6% (median follow-up 7.52 years [95% confidence interval: 7.36-7.68]). Significant differences in the distribution of childhood malignancy subtypes were evident compared with other countries. CONCLUSION: We have reported differences in the cancer ASR and cancer subtype distribution for children in SA as compared with the worldwide incidence and with other populations. This paper provides a comprehensive epidemiological overview of childhood cancer in SA, which could be extrapolated to other regional Arab populations.

A Proposed Kinetic Model for the Diagnostic and Prognostic Value of WT1 and p53 in Acute Myeloid Leukemia.

BACKGROUND: Wilms tumor (WT1) and p53 proteins were identified in the pathogenesis of several malignancies, including hematological malignancies. As a result of their interaction and diverse context-specific functions, this study aimed to emphasize the diagnostic and prognostic impacts of WT1 and p53 expression in acute myeloid leukemia (AML). METHODS: Twelve bone marrow (BM) biopsies were obtained from AML patients who were diagnosed in accordance with the French-American-British diagnostic criteria. For comparative purposes, nine normal BM biopsies were included. The expression rate of WT1 and p53 were determined by an immunohistochemistry assay. RESULTS: A significantly higher (p < 0.005) and strongly correlated ( = 0.855, p = 0.001) expression rates of WT1 and p53 were observed in the BM of AML patients in comparison to control BM. Furthermore, relapsed AML patients had significantly higher expression of WT1, but not p53, when compared to newly diagnosed patients. In regard of patient's responsiveness to chemotherapy, no significant difference was reported between good and poor responders. However, the relative ratio of p53 to WT1 expression was evidently correlated to the responsiveness groups (p < 0.05), where the ratio was observed to be significantly higher among poor responders. Poor responders were characterized by a statistically significant and dominant p53 expression (p53/WT1 > 1.0) while both good responding patients and control subjects had a dominant WT1 expression (p53/WT1 < 1.0). CONCLUSIONS: The enhanced expression levels of WT1 and p53 proteins in the BM of AML patients is supportive of their intermediate role in the pathogenesis of the disease. WT1 expression rate may encompass a negative prognostic value of the disease. Furthermore, the ratio of p53/WT expression may serve as a hallmark of the patient's responsiveness to chemotherapy, where a dominant WT1 expression may reveal good responsiveness to chemotherapy. Herein, we are proposing a kinetic model where the p53/WT1 ratio might be useful as a laboratory approach to evaluate the prognostic value of AML including the patient's responsiveness to chemotherapeutic regimen.

Factors Determining the Outcome of Hematopoietic Stem Cell Transplantation in Patients With Acute Lymphoblastic Leukemia at King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Medical records of 82 patients with acute lymphoblastic leukemia (ALL) who underwent hematopoietic cell transplantation (HCT) at our institution from 2005 to 2011 were reviewed. Forty-five patients were male (54.8%). The median age at HCT was 7.46 years (range, 0.98 to 14.31 y), the median time to HCT after diagnosis was 12.56 months. Ten patients were below the age of 1 year (12%). All patients were in complete remission at the time of HCT. In 83 transplants, 64 patients received HCT from human leukocyte antigen-identical-related donors and 19 from other donors. Stem cell source was bone marrow in 65 (78%) and cord blood in 18 (22%). Five-year overall survival was 58.8% and event-free survival was 54.3%. The cumulative incidence of acute graft versus host disease was 4.8%±2.3% and of chronic graft versus host disease was 8.9%±3.2%. The median time to absolute neutrophil count and platelet recovery was 17 days (range, 12 to 43 d) and 28 days (range, 15 to 98 d), respectively. One patient acquired CMV infection after transplant. No one developed venoocclusive disease, hemorrhagic cystitis, or other complication. Patient's age at diagnosis, sex, donor's human leukocyte antigen status and sex, source of transplant and complete remission status at HCT did not affect overall survival and event-free survival. Our results show a favorable outcome to HCT for acute lymphoblastic leukemia patients comparable to published data, and no single factor was associated with superior outcome.

Factors predicting the hematopoietic stem cells content of the umbilical cord blood.

Umbilical cord blood (UCB) has been demonstrated to be alternative source of hematopoietic stem cells (HSCs). Unfortunately, the wide use of UCB Transplantation is limited due to the low number of HSCs. The aim of this study was to determine factors that affect the number of HSCs collected from UCB. 200 eligible donors were included for HSCs testing, including total nucleated cells (TNCs) and CD34+ cell number, by using univariate and multivariate analysis. In univariate analysis, factors positively associated with higher number of TNCs were maternal weight (P=0.002), preeclampsia (P=0.03), neonatal weight (P<0.001), neonatal platelet count (P=0.02), neonatal Rh (P=0.03), gestational age (P=0.04) and delivery type (P<0.001). Factors positively associated with higher number of CD34+ cells were maternal weight (P<0.007), preeclampsia (P=0.02), maternal hypertension (P=0.02) neonatal weight (P<0.001), neonatal Rh type (P=0.02) and delivery type (P=0.04). In multivariate analysis, factors significantly influence TNCs were neonatal weight (P<0.001), preeclampsia (P=0.008), neonatal Rh type (P=0.02) and delivery type (P<0.001). While factors significantly influence number of CD34+ cells were maternal weight (P=0.025), neonatal weight (P=0.005), neonatal Rh (P=0.006), nuchal cord (P=0.026) and delivery type (P=0.009). Conclusions factors significantly influence TNCs content of UCB were neonatal weight, preeclampsia, neonatal Rh and delivery type. While factors significantly influence number of CD34+ cells were maternal weight, neonatal weight, neonatal Rh, nuchal cord and delivery type.

The effect of low altitude on blood count parameters.

BACKGROUND AND OBJECTIVES: High altitude has an effect on blood count parameters, but low altitude (especially below sea level) has not been studied. DESIGN AND SETTING: A cross-sectional study of aymptomatic subjects aged between 18 to 35 years of age who had reported to the blood bank at the King Abdullah University Hospital (KAUH)/Irbid and Ministry of Health, Jordan, during the period between January 2010 to June 2011 for blood donation. METHODS: Hematological values were compared in healthy adult blood donors living in areas 200 to 300 meters below sea level and areas 500 to 1500 meters above sea level. The study population consisted of 800 females and 666 males aged between 18 to 35 years. RESULTS: The mean values for hemoglobin level, mean corpuscular volume and leukocyte counts were significantly higher in people living above sea level than in people living below sea level (P < .0001), whereas platelet count and red cell distribution width were significantly higher in people living below sea level than in people living above sea level (P < .0001). CONCLUSION: We found a significant difference in hematological parameters in healthy adults living above and below sea level. The hematological values presented here are from a large, representative population sample and the first report of people living below sea level.

Molecular characterization of glucose-6-phosphate dehydrogenase deficiency among Jordanians.

BACKGROUND/AIMS: In Jordan, glucose-6-phosphate dehydrogenase (G6PD) deficiency is a significant health problem, and the incidence was reported to be about 3.6%. The aims of this study are to investigate the most common molecular mutations of the G6PD gene among Jordanians in northern Jordan and to examine the correlation between the genotype and phenotype of this enzyme deficiency. METHODS: Seventy-five blood samples were collected from patients attending King Abdullah University Hospital and Princess Rahma Teaching Hospital. The G6PD gene was scanned for mutations using a DNA sequencing technique. RESULTS: Our results showed 11 variations (7 exonic and 4 intronic) as follows: c.202 G>A (rs1050828), c.376 A>G (rs1050829), c.404 A>C (CM962574 single-nucleotide polymorphism), c.542 A>T (rs5030872), c.563 C>T (rs5030868), c.1003 G>A (rs5030869), c.1311 C>T (rs2230037), c.486-90 C>T, c.486-60 C>G (rs2515904), c.770+175 C>T (rs2515905) and c.1311 C>T (rs2230037). Among these, G6PD Mediterranean (c.563 C>T) was the most common in our patients, with a frequency of 76.2%, followed by G6PD A- (c.202 G>A + c.376 A>G) with 19%, and an equal frequency of 1.6% was found for G6PD Chatham (c.1003 G>A), G6PD Santamaria (c.542 A>T + c.376 A>G) and G6PD Cairo (c.404 A>C). CONCLUSION: This is the first report of G6PD Santamaria and Cairo among our Jordanian population.

Genotoxicity assessment in patients with thalassemia minor.

Thalassemia is an inherited blood disorder that affects both genders and results in reduced synthesis of hemoglobin, and thus causing anemia. Previous studies have shown that the severe form of this disease, thalassemia major, is associated with genotoxicity. This includes increases in the level of sister chromatid exchange (SCEs), chromosomal aberrations (CAs) and micronuclei. In this study, we assessed genotoxicity in the lymphocytes of thalassemia minor subjects using sister chromatid exchange (SCE) and chromosomal aberration (CA) assays. In addition, we investigated the level of oxidative DNA damage by measuring 8-hydroxy-2'-deoxyguanosine (8OHdG) biomarker in urine samples. Eighteen thalassemia minor subjects and eighteen matched normal healthy controls were volunteered in the study. In addition, seven thalassemia major patients were recruited as positive controls. The results showed increases in the frequency of SCEs (P<0.05) in thalassemia minor compared to healthy controls. However, no difference in CAs frequency was detected between thalassemia minor and controls (P>0.05). Both SECs and CAs in thalassemia major patients were significantly higher compared to other groups (P<0.05). Regarding urine 8OHdG levels, the result showed a slight increase in thalassemia minor compared to healthy controls but the difference was not significant (P>0.05). In conclusion, our results showed that thalassemia minor is associated with genotoxicity to blood lymphocytes as indicated by SCEs assay.

Seroprevalence and genotyping of hepatitis C virus in multiple transfused Jordanian patients with ß-thalassemia major.

OBJECTIVE: The main objectives of this study are to investigate the prevalence of HCV among patients with ß-thalassemia major and to determine the most prevalent genotype for this virus among them. METHODS: One hundred twenty-two ß-thalassemia major patients who were previously diagnosed at the molecular level were included. All plasma samples were tested for the presence of antibodies by ELISA. Real-time polymerase chain reaction (PCR) was used in the quantitation the HCV RNA viral loads, and consequently, patients with high virus titer were genotyped by the linear array. RESULTS: Forty of the patients were anti-HCV positive. The prevalence of anti-HCV was significantly higher in patients who received blood transfusion before 1993 (83.7%) than in those who received it after 1993 (16.3%) (p=0.000). ß-thalassemia major patients with HCV infection had significantly higher rates of elevated aspartate aminotransferase (54.4% vs 40.5%, p=0.045) and alanine aminotransferase (72.47% vs 37.47%, p=0.00) and of splenectomy (54.8% vs 45.2%, p=0.004) than ß-thalassemia major patients without HCV. CONCLUSION: HCV genotype 4 is the commonest genotype in multi-transfused patients with ß-thalassemia major in Jordan.

Comparison of plasma levels of natural anticoagulants (protein C and protein S) among Jordanian smokers and non-smokers.

BACKGROUND: Protein C (PC) with its cofactor free protein S (FPS) are important anticoagulants. Any defect in the PC system is a risk factor for venous thrombosis. AIMS: To assess the effect of intensity of smoking, and the dose-response for the number of cigarettes smoked on PC and FPS plasma levels. METHODS: A comparative study was designed and carried out on a convenient sample of 50 healthy non-smokers and 150 non-symptomatic Jordanian male smokers. PC and FPS levels were measured using an automated system (Stago Analyzer, USA). RESULTS: The plasma level of PC among smokers was 7.2% lower than that among non-smokers (p = 0.02). Moreover, smokers had 15.6% lower circulating FPS than non-smokers (p = 0.001). Furthermore, data showed significant negative correlations between both PC and FPS levels and the intensity of smoking (r = -0.21%, r = -0.23%, respectively; p = 0.01) and the period of smoking (r = -0.15%, r = -0.23%, respectively; p = 0.01, 0.12, respectively). CONCLUSIONS: The PC and FPS plasma levels were significantly lower in smokers than non-smokers. Both PC and FPS levels correlated inversely with the period and intensity of smoking, and FPS was more sensitive to smoking than PC.

Intrauterine upper limb ischemia associated with fetal thrombophilia: a case report and review of the literature.

Neonatal extremity gangrene is rare, even rarer are those born with evidence of intrauterine vascular occlusion. Intrauterine limb ischemia has been attributed to several etiological factors which include thromboembolic disease occluding the arteries of the affected limb or compression of the limb during intrauterine life. In this report, we present a case of brachioradial arterial thrombosis associated with mild homocysteinemia and double heterozygosity of methylenetetrahydrofolate reductase 677C-T and factor V Leiden gene mutations. We suggest investigating the neonates and their mothers for possible genetic prothrombotic risk factors when they present with intrauterine thrombosis as this issue is important for management and counseling.