Gaucher disease (GD) is a lysosomal storage disorder that occurs due to an inherited inborn error of metabolism. GD manifested due to the deficient activity of the glucocerebrosidase enzyme that results in the accumulation of the harmful glucocerebrosides glycolipids in different body cells. There are three main types of GD that differ from each other in their clinical presentations. Type I characterized by the absence of any neurological involvement, unlike Type II and Type III. Patients with Gaucher can be presented with visceral manifestations (including splenomegaly, hepatomegaly, or abdominal pain), hematological manifestation (anemia or thrombocytopenia or bleeding diathesis), bone manifestations (painful limbs or pathological fractures), or neurological manifestations (including neck rigidity, swallowing disorder, or oculomotor paralysis). In the Middle East, especially Saudi Arabia, a higher prevalence of genetic diseases was observed compared to reported rates in Europe and the United States. However, published data on the characteristics and treatment patterns of Gaucher patients in Saudi Arabia are still lacking in the literature. Therefore, the present manuscript aimed to present an overview of the GD situation in Saudi Arabia by bringing together a panel of Saudi hematology experts to share their views on current trends and practices in Saudi Arabia regarding GD. The experts agreed that there is no available data regarding the prevalence and incidence of GD in Saudi Arabia, therefore the experts recommend establishing a national registry for Gaucher cases. The diagnosis of GD is challenging as the disease is rare and obscure, even to hematologists. The experts also recommend shifting from the dried blood spots test to genetic testing in the future to confirm the diagnosis of GD. The experts agreed on the need to organize awareness campaigns to familiarize the primary care physicians and junior hematologists about the common presentations and management of GD.

BACKGROUND: Central venous catheters (CVCs) are the main cause of venous thromboembolism (VTE) in critically ill children. The optimal first-line treatment for children with asymptomatic CVC-related VTE is unknown. Due to a paucity of clinical trials, clinical practice guidelines can offer only weak recommendations for the management of asymptomatic CVC-related VTE. METHODS: This case-based survey was designed to assess the current trends in local management strategies for pediatric patients with an asymptomatic CVC-related thrombosis. The survey focused on the use of the thrombophilia testing, management approach, duration of anticoagulation, and the use of secondary prophylaxis. We hypothesize that there will be significant variation in these four management areas, in the large part due to the aforementioned paucity of available data.REDCap^® questions were sent to the members of the Saudi Arabian Pediatric Hematology/Oncology Society clinical forum/email database. We used a hypothetical case scenario to assess management strategies for asymptomatic CVC-related VTE and secondary prophylaxis. RESULTS: Seventy-one (30%) physicians responded to the survey. The majority of the respondents (83.3%) did not use thrombophilia testing. The far majority (95%) treated with anticoagulation. In contrast, the survey respondents varied widely in the duration of anticoagulation and the use of secondary prophylaxis. CONCLUSIONS: Asymptomatic CVC-related VTE is a common clinical entity with limited data guiding management. In Saudi Arabia, there remains considerable variability in the clinical management. These findings will help identify crucial knowledge gaps in the management of asymptomatic CVC-related VTE and facilitate clinical trials that will help establish evidence-based treatment guidelines.

INTRODUCTION: Sickle cell anemia is a genetic hereditary disorder, with multifactorial cause for increase susceptibility, to bacterial infection leading to more intensive care unit (ICU) admission, morbidity, and mortality. When it is superadded by morbidities such as Type 2 diabetes mellitus (DM), chronic kidney disease (CKD), and chronic heart disease (CHD), chances of morbidity and mortality will increase multiple times in the ICU. AIM: The aim of this study was to find out the incidence, variation, and load in the microbiological profile of catheter-associated urinary tract infection (CAUTI), depending on the comorbidities associated with these sickle cell anemic tribal patients in the medical ICU (MICU) of a tribal tertiary care center. MATERIALS AND METHODS: This prospective study was conducted in MICU of a tribal tertiary care center from March 2019 to February 2020. It included diagnosed sickle cell anemic tribal patients with microbiologically confirmed cases of CAUTI following urinary catheterization for more than 48 h in the MICU. Demographic and clinical data of these patients were collected. Detailed investigations of the patients with antimicrobial susceptibility and resistance pattern of isolates were collected. RESULTS: In our study, the DAI rate in tribal sickle cell anemic patients was 8.7 per 1000 device days with an incidence of 7.8%. CAUTI was more common in female sex (86.7%), low socioeconomic status (80%), duration of urinary catheter up to first 7 days (66.7%), and age group above 40–60 years (33.3%). The most commonly associated microorganism was Staphylococcus aureus (46.6%) followed by Escherichia coli (13.3%) and Pseudomonas aeruginosa (13.3%). Associated comorbidities were Type 2 DM (20%), cerebrovascular accident (CVA) (20%), ST-segment elevation myocardial infarction (STEMI) (13.3%), CKD (13.3%), and CHD (6.6%). S. aureus 7 (46.6%) and Klebsiella pneumoniae 1 (6.6%) were found in Type 2 DM, Streptococcus pneumoniae 1 (50%) in STEMI, E. coli 2 (13.3%) in CKD and CVA, P. aeruginosa in 1 (6.6%) case each with CVA and septic shock, and Acinetobacter baumannii in 1 (6.6%) case with epilepsy. Resistant antibiotic was ceftriaxone 28.4% to S. aureus and 100% to E. coli. CONCLUSION: Our analysis precisely of this tribal population brings several important and unique findings, which will aid in the development of some new or update guidelines for the prevention of CAUTI to reduce morbidity and mortality in the MICU of a tribal tertiary care center.

INTRODUCTION: Bone marrow aspiration (BMA) has an important role in the investigation and diagnosis of hematologic as well as nonhematologic malignancies and various other diseases. The procedure varies from one setting and person to the other. AIMS: The aim of the study is to study the role of 18G lumbar puncture (LP) needle in the diagnosis of bone marrow involvement in hematologic malignancies and metastasis for certain solid tumors. MATERIALS AND METHODS: During this hospital-based retrospective study, 708 patients who clinically and histopathologically diagnosed with the malignant lesion and subsequently undergone BMA were included in this study. RESULTS: BMA was done in 607 patients diagnosed with hematologic malignancies and 101 patients diagnosed with nonhematologic malignancies. Adequate marrow material was obtained in the first attempt in 683 (96.5%) cases. Multiple aspirations were needed in 25 (3.5%) cases. The majority (86.3%) of the patients experienced less pain by the 18 G LP needle compared to their previous experience with the conventional BMA needle. Needle breakage was not seen in any of the cases. CONCLUSION: The results of this study suggest that the 18G LP needle can be easily adopted for BMA and could be a great help in significantly reducing pain and complications in patients undergoing BMA.

BACKGROUND: MALT lymphoma is very slow progressive and low relapse rate, long-term follow-up is very important. However, there are limited reports of long-term observational study of MALT lymphoma. MATERIALS AND METHODS: A retrospective review was conducted on a total of 54 consecutive patients who were treated for localized gastric MALT lymphoma with radiotherapy from January 2007 to December 2019. Clinical staging was performed in reference and according to the Lugano Modification of Ann Arbor Staging System. The prescribed dose was 30 Gy with 15 or 20 fractionations. RESULTS: In the entire cohort, there were 30 males and 24 females with a median age of 64 years (range: 37–81 years). The median follow-up period was 38.1 months (range: 3.6–145 months), and there were no patients who died within the observation period, according to their medical records. All patients achieved a complete response, as proven by the biopsies conducted. Forty-eight patients (89%) achieved a complete response at the first biopsy after radiotherapy, 5 (9.2%) at the second time, and 1 (1.8%) at the fourth time. No patient had experienced locoregional recurrence; however, 3 patients did develop distant disease progression during the observation period. The 5- and 10-year progression-free survival rates were 93.4% (95% confidence interval (CI): 75.8%–98.3%) and 86.7% (95% CI: 61.7%–95.9%), respectively. No patient exhibited any Grade 3-5 late radiation-induced acute or late toxicity. CONCLUSION: This retrospective analysis clarified a clinical outcome of gastric MALT lymphoma treated by radiotherapy.

BACKGROUND: Change in immunoglobulin (Ig) subclass levels, a manifestation of altered immune status, is thought to contribute to pathogenesis of non-Hodgkin's lymphoma (NHL). Furthermore, pretreatment Ig level in NHL patients scheduled to receive immunotherapy has prognostic significance. AIMS AND OBJECTIVES: This study was carried out to provide information on the levels of Ig subclass in patients with NHL in our center. METHODS: A descriptive cross-sectional study of patients diagnosed with NHL over an 8-month period was conducted. Controls were apparently healthy voluntary blood donors. Clinical information and results of hematology and clinical biochemistry investigations were retrieved from patients' case notes. The working formulation classification was used to subtype the NHL. Serum IgG, IgA, IgM, and IgE concentrations were assayed for for the levels in patients and controls. RESULTS: A total of 68 participants (cases n = 35, controls – 33) were included in this study. The mean age of the patients was 48.67 ± 17.3 years (range: 18–85). The hematological and clinical biochemistry results were within reference values for the population except hematocrit (Hct) which was low (28% ± 7%) and high erythrocyte sedimentation rate of 72 mm/h (interquartile range [IQR] – 52.0–100.0). IgD levels were significantly lower in the cases than the controls (P = 0.029) with a Cohen's medium effect size. There was a significant drop in IgE from Stage I to III of the disease (χ²(3) = 7.93, P = 0.047). Furthermore, there were significant positive correlations between IgD, IgA, IgM, and Hct and platelets. CONCLUSION: Immune paresis is associated with progressive disease or late clinical presentation, and this should be taken into consideration when managing these patients.

Acute appendicitis is a rare gastrointestinal condition in neutropenic acute leukemia patients. Urgent surgery as appendectomy in these neutropenic patients is a procedure with risks of morbidity and mortality. We report a rare presentation of a neutropenic acute leukemia patient with acute appendicitis operated urgently without any complications.

Association of cancer and thrombotic complications in acute leukemia is not uncommon. The underlying mechanism involved in thrombus formations is largely unknown with limited published data. Our patient was presented with complaints of continuous headache and persistent projectile vomiting. After initial tests, a magnetic resonance imaging of the brain performed revealed cerebral venous sinus thrombosis. Anticoagulant and anticonvulsant prophylaxis was initiated, and further treatment was planned. In such rare cases, early diagnosis and management are desirable. The role of clinicians in identifying the clinically suspicious signs and symptoms can help in identifying such rare conditions before developing severe thromboembolic complications. In the present study, we report a rare case of cerebral venous thrombosis, its associated treatment, and complications in a patient diagnosed with nucleophosmin gene-mutated acute myeloid leukemia. Similar Cases Published: None.

Chronic lymphocytic leukemia (CLL) is the most common leukemia in adults. Several prognostic factors exist that help stratify patients into different risk categories. Unmutated status of the immunoglobulin heavy chain (IGHV) gene has been shown to be among the most important high-risk prognostic factors in CLL. Elevated serum level of lactate dehydrogenase has also been shown to be associated with worst outcomes. Recently, the management of CLL has progressed favorably and improved outcomes were seen with the use of the small-molecule Bruton's tyrosine kinase inhibitor, ibrutinib, when compared with traditional chemotherapy. Here, we present a CLL case with an unmutated IGHV gene status presenting with markedly elevated LDH and responding dramatically to ibrutinib.