Unmasking hemoglobin Köln: a rare cause of discrepancies between pulse oximetry and arterial oxygen saturation-a case report.

Discrepancies between pulse oximetry and arterial oxygen saturation can pose challenges in clinical assessment. Possible underlying causes include poor peripheral perfusion, skin pigmentation, motion artifacts, and conditions like unstable hemoglobin and methemoglobinemia. Unstable hemoglobin variants, such as hemoglobin Köln, are rare inherited mutations affecting globin genes, potentially disrupting the folding, assembly, or interactions among subunits in globin molecules and the essential interactions between heme and globin for oxygen-binding properties. In this case report, we present the case of a 44-year-old Arabic woman who underwent extensive investigations due to disparities in pulse oximetry and arterial oxygen saturation, ultimately leading to the diagnosis of the unstable hemoglobin variant, hemoglobin Köln.

Management strategies and outcomes of thromboembolism prevention in atrial fibrillation co-existing with immune thrombocytopenia: A review of evidence.

This review aimed to assess bleeding risks and explore management options in atrial fibrillation (AF) patients with immune thrombocytopenia (ITP), aiming to formulate an optimal therapeutic approach for improved patient prognosis. Employing MeSH terms, a comprehensive search strategy identified articles on bleeding risks and management guidelines in AF combined with ITP. Original research papers were included, while animal studies, reviews, and non-English articles were excluded. From four databases, 1891 articles were initially retrieved, resulting in 10 relevant full-text articles. Eight studies investigated the effectiveness of anticoagulants in managing concurrent AF and ITP, demonstrating reduced bleeding risk and promising outcomes. Two papers explored surgical interventions, particularly left atrial appendage closure, suggesting its safety for AF management in patients with primary hemostatic disorders, including thrombocytopenia. While the pathophysiological mechanisms of AF and ITP remain unclear, anticoagulation regimens exhibited promising reductions in bleeding risks. Larger studies are warranted to enhance understanding and investigate optimal treatments for AF and ITP.

Diffuse large B-cell lymphoma presenting with pulmonary artery compression symptoms, case reports.

Mediastinal diffuse large B-cell lymphoma (DLBC) may manifest in different presentations including systemic symptoms and local mass symptoms. We report two cases of diffuse large B-cell lymphoma presenting with pulmonary artery compression symptoms. The first case is of a 38-year-old Asian man which mimicked pulmonary embolism, and the second one is of a 27-year-old Asian woman who presented with fainting and respiratory symptoms due to local mass effect. Both cases were significantly improved after treatment. Local mass effect symptoms may be the first clinical presentation in DLBC lymphoma and should not be overlooked.

Chronic Myeloid Leukemia in Adolescents and Young Adults: Clinicopathological Variables and Outcomes.

INTRODUCTION: Adolescents and young adults (AYAs) diagnosed with chronic myeloid leukemia (CML) constitute a significant demographic group, particularly in regions with youthful populations like Qatar. Despite the global median age of CML diagnosis being 65 years, Qatar's age distribution reflects a younger cohort. This study investigates whether AYAs with CML exhibit distinct clinicopathological characteristics or outcomes compared to older age groups. METHODS: A total of 224 CML patients were enrolled, including 114 AYAs (defined as ages 15 through 39). Demographic and clinical parameters, including gender, BMI, BCR-ABL1 transcript type, white blood cell (WBC) count, hemoglobin level, platelet count, and spleen size, were compared between AYAs and older patients. Prognostic scoring systems (Sokal, Hasford, EUTOS, and ELTS) and molecular response rates (MMR and DMR) were also evaluated. RESULTS: AYAs demonstrated higher WBC counts at diagnosis (median 142.3 vs. 120; p = 0.037) and lower hemoglobin levels (10.5 vs. 11.40; p = 0.004) compared to older patients. Spleen size was significantly larger in AYAs (18.8 vs. 15.5; p = 0.001). While AYAs showed better prognostic scores by Sokal and Hasford criteria, EUTOS and ELTS scores indicated comparable risk stratification. However, AYAs exhibited lower rates of MMR (56.7 vs. 73.4%; p = 0.016) and achieved MMR at a slower pace (median time 130 vs. 103 months; p = 0.064). Similarly, the percentage of DMR was lower in AYAs (37.1 vs. 46.8%; p = 0.175). CONCLUSION: Despite their younger age, AYAs with CML displayed poorer prognoses compared to older patients. These findings underscore the importance of tailored management strategies for AYAs with CML to optimize outcomes in this distinct patient population. KEY POINT: AYAs are underrepresented in CML studies and risk scores, so this is the focus of this study.

Cost-effectiveness of l-glutamine versus crizanlizumab for adults with sickle cell disease: model focused on reducing pain episode costs from Qatar's healthcare perspective.

Objectives: Treatment options for preventing vaso-occlusive crises among sickle cell disease patients are on the rise, especially if hydroxyurea treatment has failed. This economic analysis is conducted to assess the comparative clinical effectiveness, safety, and acquisition cost of l-glutamine and crizanlizumab for older adolescents and adults (⩾16 years old) with sickle cell disease in Qatar, with an emphasis on treatment costs and acute pain crises. Methods: We conduct a decision-tree model, where we compare the clinical and economic outcomes of two novel Food and drug administration (FDA)-approved medications which are available in Qatar; l-glutamine and crizanlizumab over a time horizon of 1 year in a hypothetical cohort of adult sickle cell disease patients from a Qatar healthcare perspective. The main outcome is incremental cost per sickle cell disease-related acute pain crises averted. Model clinical parameters were derived from individual drug randomized trials, published literature, whereas cost parameters from Qatar healthcare payer system (2020-2021). A sensitivity analysis was carried out, and the study results were robust around model inputs. Costs were converted to 2020 US dollars. Results: Study results showed that both treatment modalities' costs were the main driver of this analysis, with an average annual cost of the treatments per patient being $189,014 for crizanlizumab (5 mg/kg), $143,798 for crizanlizumab (2.5 mg/kg), and $74,323 for l-glutamine. The probability of no first-time sickle cell disease-related vaso-occlusive crises averted was 0.001/year for glutamine, 0.26/year for crizanlizumab (5 mg/kg), and 0.34/year for crizanlizumab (2.5 mg/kg). Lower dose crizanlizumab (2.5 mg/kg) dominated the higher one (5 mg/kg). The incremental cost-effectiveness ratio of crizanlizumab (2.5 mg/kg), when compared to l-glutamine was $81,265 per sickle cell disease-related vaso-occlusive crises averted. When comparing crizanlizumab (5 mg/kg) and l-glutamine, crizanlizumab (5 mg/kg) showed higher efficacy, yet the crizanlizumab incremental cost-effectiveness ratio was at $459,620 than l-glutamine. Conclusions: Crizanlizumab (2.5 mg/kg) may be a cost-effective intervention, yet it is not the approved dose for preventing vaso-occlusive crises in adolescents and adults with sickle cell disease. Crizanlizumab (5 mg/kg) was more cost-effective than the approved l-glutamine per sickle cell disease vaso-occlusive crisis prevented. Of note, we primarily focused on modeling acute vaso-occlusive pain, which limited our ability to consider other key outcomes in sickle cell disease.

The characteristics of CALR mutations in myeloproliferative neoplasms: a clinical experience from a tertiary care center in Qatar and a literature review.

BACKGROUND: Myeloproliferative neoplasms (MPNs) are hematological disorders characterized by abnormal production of myeloid cells due to genetic mutations. Since 2013, researchers have identified somatic mutations in the Calreticulin (CALR) gene, primarily insertions or deletions, in two Philadelphia chromosome-negative MPNs; essential thrombocytosis (ET) and primary myelofibrosis (PMF), and occasionally in chronic myelomonocytic leukemia (CMML). This study aims to identify the various types of CALR mutations and their impact on CALR-positive MPN patients' clinical manifestations and outcomes. METHODS: A single-center retrospective study was conducted. The data was collected from pre-existing records. The study was carried out on Philadelphia-negative MPN patients who were being followed up on at the NCCCR (National Center for Cancer Care and Research) to assess the clinical manifestation and outcome of disease treatment. All patients included, were followed in our center between January 1, 2008, and November 20, 2021. RESULTS: A total of 50 patients with CALR-positive MPN were reviewed with a median follow-up of three years (1-11). This cohort included 31 (62%) patients with ET, 10 (20%) patients with PMF, and 9 (18%) patients with prefibrotic myelofibrosis (pre-MF). The study involved 38 (76%) male and 12 (24%) female patients. There were 16 (32%) patients diagnosed before the age of 40, 24 (48%) patients diagnosed between the ages of 40 and 60; and 10 (20%) patients diagnosed after the age of 60. Molecular analysis showed 24 (48%) patients with CALR type 1, 21 (42%) patients with CALR type 2, and 5 (10%) patients with none Type 1, none Type 2 CALR mutations. Two patients have double mutations; 1(2%) with none Type 1, none Type 2 CALR and JAK2 mutations, and 1(2%) with CALR type 1 and MPL mutations. The thrombotic events were 3 (6%) venous thromboembolisms, 3 (6%) abdominal veins thromboses, 2 (4%) strokes, and 4 (8%) ischemic cardiac events. Only 4 (8%) patients progressed to Myelofibrosis and were carrying CALR 1 mutations, and 1 (2%) patient progressed to AML with CALR 2 mutation. CONCLUSION: The data shows a significant rise in CALR-positive MPN diagnoses in younger people, emphasizing the need for a better assessment tool to improve disease management and reduce complications.

Luspatercept's use in a patient with transfusion-dependent beta-thalassemia and intrathoracic extramedullary hematopoiesis (EMH).

Key Clinical Message: This case report and literature review examine the use of a relatively novel agent in a transfusion-dependent beta-thalassemia patient with extramedullary hematopoiesis (EMH). It examines the benefits and risks associated with its use and reviews the available literature while highlighting the drug's results in our patient with a higher risk profile. Abstract: Beta thalassemia can be complicated by EMH, which causes different symptoms based on location and size. Luspatercept is a new agent approved for transfusion-dependent thalassemia and Non-transfusion-dependent thalassemia (NTDT). Still, its use in patients with EMH was not well studied, and literature showed an increased risk of EMH expansion or development of new masses after its use. We discuss, in this case, the results of luspatercept treatment in a patient with transfusion-dependent thalassemia who is considered high risk for its use due to the patient's specific characteristics (history of symptomatic intrathoracic EMH, previous splenectomy, refusal to use antithrombotic medications). While also highlighting the benefits of using luspatercept regarding decreasing the iron overload and improving hemoglobin levels and examining how it was used safely to manage a transfusion-dependent thalassemia patient with an extramedullary hematopoiesis mass with no adverse events of note.

Potential efficacy of crizanlizumab in treating priapism in sickle cell disease: A case report.

This report documents the treatment of a 41-year-old male with sickle cell disease (SCD) and repeated stuttering priapism using crizanlizumab, which alleviated the priapism but induced a significant vaso-occlusive crisis during the second infusion. Encouragingly, no subsequent vaso-occlusive crises occurred. However, the potential for infusion-related adverse events warrants close supervision. Further research is necessary to explore its full benefits on priapism management.

Primary Splenic Diffuse Large B-Cell Lymphoma: A Case Report and Literature Review of a Rare Condition.

Introduction: Primary splenic lymphoma is a rare lymphoproliferative disorder that involves the spleen, exhibits diverse clinical presentations, and lacks a clear consensus in terms of management strategies. Case Presentation: We present the case of a 52-year-old patient with a complex medical history marked by multiple chronic medical conditions. The patient was diagnosed with primary splenic lymphoma, specifically the diffuse large B-cell subtype. Treatment for our patient involved a shortened course of chemotherapy (4 cycles of rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone [R-CHOP] followed by two doses of rituximab) due to issues related to compliance and treatment-related complications. This was followed by consolidative radiotherapy without resorting to splenectomy. Conclusion: Remarkably, despite using a shortened course of R-CHOP, the patient achieved complete resolution, and a positron emission tomography scan conducted at the end of the 6-month posttreatment period confirmed sustained complete remission.

Epidemiologic and Clinical Patterns of Malignant Lymphoma in Qatar 2013-2017: A Population-Based Cohort Study.

INTRODUCTION: Lymphoma, encompassing common non-Hodgkin lymphoma (NHL) and less common Hodgkin lymphoma (HL), represents significant hematological malignancies. Advancements in treatment modalities have reshaped survival rates, particularly in NHL. This complexity results in varying outcomes, some requiring extended observation periods and multiple chemotherapy treatments. The primary objective was to explore and compare the overall survival (OS) of HL and NHL at 1, 3, and 5-year follow-ups among adult lymphoma patients in Qatar during January 2013-December 2017. Further objectives encompass comparing the most prevalent histological types, clinical and epidemiological traits of HL and NHL, as well as secondary aims of assessing clinical features, treatment, response, disease-free survival, and OS. METHODS: A retrospective, descriptive study of consecutive cases was conducted at Qatar's NCCCR between 2013 and 2017. Inclusion criteria involved patients ≥18 years old, of any gender and clinical stage at diagnosis, who received chemotherapy and had known outcomes. Descriptive statistics were applied, and survival analysis utilized Kaplan-Meier curves. STATA version 13.0 facilitated data analysis. RESULTS: Between 2013 and 2017, 414 individuals in Qatar were diagnosed with lymphoma. The median age at diagnosis was 49 years (IQR 36-95 years; p < 0.001) across all patients. Males exhibited a higher likelihood of developing HL and NHL, comprising 74% and 70% of cases, respectively, though this difference was statistically insignificant (p = 0.45). Among NHL-B subtypes, mature B-cell neoplasms (60%) predominated, while lymphocyte-rich subtype (49%) was prominent in HL cases. With a median follow-up of 17.3 months, OS rates at 1, 3, and 5 years were 99%, 82%, and 64%, respectively for all lymphoma patients. Subtype stratification revealed trends in 3-year follow-up OS (94 vs. 82%) for HL and NHL, with 5-year OS of 67% and 60%, respectively. HL demonstrated higher OS throughout the study period compared to NHL (p < 0.001), though median OS remained unreached. CONCLUSIONS: Diffuse large B-cell lymphoma emerged as the most prevalent subtype among lymphomas in Qatar. Generally, HL exhibited superior survival rates, at 67% compared to 60% for NHL. Minor deflation in survival rates, particularly for HL, might be attributed to Qatar's immigration patterns.

The Contemporary Role of Hematopoietic Stem Cell Transplantation in the Management of Chronic Myeloid Leukemia: Is It the Same in All Settings?

Hematopoietic stem cell transplantation (HSCT) for chronic myeloid leukemia (CML) patients has transitioned from the standard of care to a treatment option limited to those with unsatisfactory tyrosine kinase inhibitor (TKI) responses and advanced disease stages. In recent years, the threshold for undergoing HSCT has increased. Most CML patients now have life expectancies comparable to the general population, and therefore, the goal of therapy is shifting toward achieving treatment-free remission (TFR). While TKI discontinuation trials in CML show potential for achieving TFR, relapse risk is high, affirming allogeneic HSCT as the sole curative treatment. HSCT should be incorporated into treatment algorithms from the time of diagnosis and, in some patients, evaluated as soon as possible. In this review, we will look at some of the recent advances in HSCT, as well as its indication in the era of aiming for TFR in the presence of TKIs in CML.

Safety and Efficacy of Asciminib in Chronic Myeloid Leukemia Patient with Chronic Kidney Diseases: A Case Report.

Introduction: Chronic myeloid leukemia (CML) is characterized by the presence of the BCR::ABL1 fusion gene, and the advent of tyrosine kinase inhibitors (TKIs) has revolutionized its therapeutic landscape. Asciminib, a STAMP inhibitor, emerges as a promising option for patients unresponsive or intolerant to multiple conventional TKIs. However, the safety and efficacy of asciminib in individuals with chronic kidney disease remain understudied. Case Presentation: In this report, we detail the case of a 62-year-old patient with CML and stage 3 chronic kidney disease, who faced intolerance to traditional TKIs primarily due to fluid retention. The transition to asciminib therapy resulted in a profound molecular response and did not exacerbate renal function, effectively addressing the fluid retention issue. Conclusion: This case highlights the potential of asciminib as a viable therapeutic alternative for CML patients with chronic kidney disease, particularly those intolerant to standard TKIs. Further research is warranted to establish the broader safety and efficacy profile of asciminib in this patient population.

Obstructive Sleep Apnea Does Not Exclude Polycythemia Vera: A Case Report.

Introduction: Polycythemia vera (PV) is one of the myeloproliferative neoplasms (MPN) diagnosed by World Health Organization (WHO) criteria 2016, which requires the presence of 3 major criteria: high hemoglobin/hematocrit, bone marrow findings, and Janus Kinase 2 (JAK2) mutation or two major and one minor criteria, including erythropoietin (EPO) level. However, in clinical practice, difficulties in diagnosis can arise as it may be masked by secondary causes for erythrocytosis such as smoking or obstructive sleep apnea (OSA). Case Presentation: Here, we report a 55-year-old gentleman, morbidly obese with OSA on home continuous positive airway pressure (CPAP) machine, who was incidentally found to have polycythemia. Further evaluation confirmed the diagnosis of PV. Conclusion: PV can be masked by the assumption of secondary polycythemia based on history. This underscores the importance of screening such cohort through JAK2 and EPO testing to avoid missing PV.

Deep learning enhances acute lymphoblastic leukemia diagnosis and classification using bone marrow images.

Acute lymphoblastic leukemia (ALL) poses a significant health challenge, particularly in pediatric cases, requiring precise and rapid diagnostic approaches. This comprehensive review explores the transformative capacity of deep learning (DL) in enhancing ALL diagnosis and classification, focusing on bone marrow image analysis. Examining ten studies conducted between 2013 and 2023 across various countries, including India, China, KSA, and Mexico, the synthesis underscores the adaptability and proficiency of DL methodologies in detecting leukemia. Innovative DL models, notably Convolutional Neural Networks (CNNs) with Cat-Boosting, XG-Boosting, and Transfer Learning techniques, demonstrate notable approaches. Some models achieve outstanding accuracy, with one CNN reaching 100% in cancer cell classification. The incorporation of novel algorithms like Cat-Swarm Optimization and specialized CNN architectures contributes to superior classification accuracy. Performance metrics highlight these achievements, with models consistently outperforming traditional diagnostic methods. For instance, a CNN with Cat-Boosting attains 100% accuracy, while others hover around 99%, showcasing DL models' robustness in ALL diagnosis. Despite acknowledged challenges, such as the need for larger and more diverse datasets, these findings underscore DL's transformative potential in reshaping leukemia diagnostics. The high numerical accuracies accentuate a promising trajectory toward more efficient and accurate ALL diagnosis in clinical settings, prompting ongoing research to address challenges and refine DL models for optimal clinical integration.

Glanzmann Thrombasthenia Associated with Siderotic Synovitis and Arthropathy: A Case Report.

Glanzmann thrombasthenia is a bleeding disorder with a low incidence. It typically manifests as superficial bleeding episodes, which tend to be mild. Deep organ involvement is not uncommon but remains rare due to the rarity of the disease itself and the unusual association between platelet disorders and deep organ implications. A 17-year-old boy with Glanzmann thrombasthenia since infancy developed ankle pain after a minor trauma. His initial workup was negative, but he continued to experience ankle pain. A magnetic resonance imaging (MRI) done after four weeks suggested siderotic synovitis. The patient was lost to follow-up after that and returned after two years with recurrent left ankle pain. Imaging and studies have shown evidence of chronic arthropathy. A specialized orthopedic team assessed the patient. The patient underwent intra-articular steroid injection for pain relief and was referred to continue physical therapy. In conclusion, hemarthrosis is more common in hemophilia than in platelet disorders and has potential morbidity and quality-of-life implications.

A Rare Case of Lambert-Eaton Myasthenia Syndrome Associated with Non-Hodgkin's Lymphoma: A Case Report and Review of the Literature.

Introduction: Lambert-Eaton myasthenia syndrome (LEMS) is a rare autoimmune disorder characterized by autoantibodies targeting presynaptic neuromuscular junctions. It results in muscle weakness and autonomic dysfunction. LEMS can be idiopathic or associated with neoplastic diseases, often small-cell lung cancer. This case report describes a rare instance of paraneoplastic LEMS in a man with non-Hodgkin lymphoma. Case Presentation: A 57-year-old male with non-Hodgkin lymphoma presented with progressive muscle weakness, diminished reflexes, and autonomic symptoms. Diagnosis revealed LEMS with autoantibodies against voltage-gated calcium channels. Immunosuppressive therapy and lymphoma treatment led to significant improvement in his condition. Conclusion: This case highlights the rare occurrence of paraneoplastic LEMS in a patient with non-Hodgkin lymphoma. Recognition and timely management of LEMS alongside lymphoma treatment can lead to significant clinical improvement, emphasizing the need for increased awareness of such complex associations.

Erythema nodosum following treatment with dasatinib plus chemotherapy in a patient with myeloid blast phase of chronic myeloid leukemia.

Erythema nodosum (EN) is a type of panniculitis occurring due to various conditions. It can be associated with certain malignancies or manifest as a side effect of drugs. This article presents a unique case of EN in a patient with chronic myeloid leukemia (CML-blast phase) following dasatinib and chemotherapy. Timely recognition and appropriate management are crucial to alleviate symptoms and consider potential drug-induced etiology.

Clinical and epidemiological features and therapeutic options of avascular necrosis in patients with sickle cell disease (SCD): a cross-sectional study.

BACKGROUND: Avascular necrosis (AVN) is a debilitating complication in sickle cell disease (SCD) patients, and its management is usually challenging. This study aims to evaluate the clinical and epidemiological features and therapeutic options of AVN in sickle cell patients in Qatar. PATIENTS AND METHODS: A cross-sectional study was conducted on a 49 SCD patients who were diagnosed with AVN and attended the hematology clinic at the National Center for Cancer care & research, Hamad Medical Corporation, Qatar between Jan-2011 to Jan2021.  Results: Forty-nine adult patients with SCD who were diagnosed with AVN were studied. The median age of the study population is 32 years, and the median age at the first AVN diagnosis was 26 years (range: 11-44 yr.). 37 (75.5%) patients suffered from multiple joints AVN while 12(24.5%) had single joint involvement. 31 (63.3%) patients had bilateral hip AVN and 18 (36.7%) had shoulder involvement. 30 patients (61%) were on Hydroxyurea treatment. Based on FICAT and Alert classification of AVN, 57 % of patients had stage III and above at first diagnosis. 20 (40.8%) were managed with a conservative approach, 11 (22.4%) received hyperbaric oxygen with good response, 6(12.2%) underwent hip core decompression and 12(24.5%) underwent hip replacement surgery. CONCLUSION: In SCD patients, AVN occurred more during the 3rd and 4th decades of life. The majority of AVN represented with advanced stage and had multiple joint involvements. We recommend adopting a low threshold of joint imaging for early detection and prevention of further complications.

Spontaneous Remission in a Patient with Chronic Myeloid Leukemia: A Case Report.

Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm in which granulocytic cells are the main proliferative component. At diagnosis, more than 90% of CML cases have the characteristic Philadelphia chromosome, containing the BCR::ABL1 fusion gene. The natural history of untreated CML is an initial indolent chronic phase which will be followed by an accelerated phase, blast phase, or both. Tyrosine kinase inhibitors (TKIs) have dramatically altered the natural history of CML. TKI discontinuation with the goal of treatment-free remission is currently part of current management recommendations. However, spontaneous remission without receiving any treatment is extraordinarily rare in CML patients. Herein, we report a 56-year-old male who presented with leukocytosis and was diagnosed as a case of CML in the chronic phase; however, treatment with TKIs was not initiated due to spontaneous hematological as well as molecular remission.

Revolutionizing chronic lymphocytic leukemia diagnosis: A deep dive into the diverse applications of machine learning.

Chronic lymphocytic leukemia (CLL) is a B cell neoplasm characterized by the accumulation of aberrant monoclonal B lymphocytes. CLL is the predominant type of leukemia in Western countries, accounting for 25% of cases. Although many patients remain asymptomatic, a subset may exhibit typical lymphoma symptoms, acquired immunodeficiency disorders, or autoimmune complications. Diagnosis involves blood tests showing increased lymphocytes and further examination using peripheral blood smear and flow cytometry to confirm the disease. With the significant advancements in machine learning (ML) and artificial intelligence (AI) in recent years, numerous models and algorithms have been proposed to support the diagnosis and classification of CLL. In this review, we discuss the benefits and drawbacks of recent applications of ML algorithms in the diagnosis and evaluation of patients diagnosed with CLL.