Clinical and Demographic Characteristics of Pyruvate Kinase Deficiency Patients: A Comprehensive Case Series Analysis.

Introduction Pyruvate kinase deficiency (PKD) is a rare autosomal recessive disorder characterized by mutations in the PKLR gene, causing impaired glycolysis in red blood cells and leading to diverse clinical manifestations. The prevalence of PKD in Saudi Arabia remains understudied, particularly in the context of consanguinity and non-specialized medical facilities. Methods We conducted a retrospective analysis of seven PKD patients of Arab ethnicity, focusing on demographics, medical history, clinical features, laboratory results, treatments, and outcomes. Results Our patient cohort comprised five males and two females, aged 10 to 38 years, of Arab ethnicity. Consanguinity was prevalent, and hereditary connections were identified in five patients. PKD exhibited varying clinical presentations, with early-onset symptoms including neonatal jaundice and symptomatic anemia. One patient experienced severe hepatic disease progression leading to multiorgan failure. Blood transfusions were universally required, indicating the severity of the disorder. Anemia severity varied among patients, with diverse hematological irregularities. Splenectomy was performed for most patients, improving hemoglobin levels and transfusion needs in some cases. Iron chelation was administered, although iron overload persisted. Thrombocytosis and venous thromboembolism were observed post splenectomy. Jaundice and gallstones were common, leading to cholecystectomy. Laboratory findings remained consistent, with heightened reticulocyte counts and altered enzyme levels. Discussion PKD is a rare disorder characterized by diverse clinical manifestations. Prevalence estimation is complex due to various factors, and its diagnosis is challenged by clinical similarities with other disorders. Our cohort exhibited a spectrum of complications, highlighting the necessity for tailored interventions. Iron overload remained a concern, necessitating continuous monitoring. Although endocrine disorders and osteoporosis were absent in our cohort, vigilance is essential due to the disease's progressive nature. Genetic factors were prominent, supporting the genetic basis of PKD. Splenectomy improved anemia but had a limited impact on gallstones. Iron overload management and bone health remain crucial considerations. Conclusion This study offers comprehensive insights into the clinical and demographic characteristics of PKD patients, illustrating the complex nature of the disorder. The findings underscore the need for personalized management strategies and vigilant monitoring to address the diverse clinical manifestations and challenges associated with PKD.

Plasminogen Deficiency: A Case Report and Review.

Plasminogen deficiency, a rare disorder characterized by impaired fibrinolysis, frequently results in ligneous conjunctivitis. In this report, we report a case of a Saudi girl manifesting both conjunctivitis and hydrocephalus. Her initial symptoms at 1 month of age were recurring eye redness, which was inaccurately diagnosed as simple conjunctivitis. Surgical intervention for her ocular lesions revealed underlying membrane deposition. She later exhibited signs of increased intracranial pressure, resulting in a hydrocephalus diagnosis and subsequent surgery. Genetic analysis confirmed the presence of plasminogen deficiency. Clinical evaluations highlighted ligneous conjunctivitis, variations in visual acuity, and facial acne. Laboratory assessments demonstrated diminished plasminogen levels. The therapeutic approach encompassed plasminogen replacement, administered intravenously (1000 units, thrice weekly) and as eye drops, with the potential addition of fresh frozen plasma. Notably, this replacement therapy led to a significant reduction in hospital admissions and the severity of her conjunctivitis. Given the challenges in procuring consistent plasminogen supplies, the viability of hepatic transplantation is currently under investigation.

Blastic Plasmacytoid Dendritic Cell Neoplasm: A Case Report.

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is an uncommon hematological tumor originating from the precursor of plasmacytoid dendritic cells (pDCs) with a persistent and progressive course of illness. Despite being an aggressive disease BPDCN has an initial indolent course manifested as skin lesions. Alongside or following the skin lesion, the extra-cutaneous manifestation develops and includes lymphadenopathy, splenomegaly, and hepatomegaly. The BPDCN diagnosis is mainly based on the immunophenotype.  Herein, we report the case of a 72-year-old male patient who presented with a history of left anterior chest wall painless skin lesions. Histology of skin biopsy of the left chest skin lesion showed diffuse dermal infiltration by monomorphic medium-sized blastic cells positive for cluster of differentiation (CD)4, CD45, CD7, CD56, CD43, CD123, T-cell leukemia-1 (TCL1), and B-cell leukemia/lymphoma 2 protein (BCL2). Given the rarity of the disease, standard chemotherapy regimens used in treating different leukemias and lymphomas have been adapted to treat BPDCN.

Direct oral anticoagulant: Review article.

Venous thromboembolism (VTE) and atrial fibrillation (AF) is a major burden on the health care system. The average occurrence of venous thromboembolism annually is around 108 per 100,000 person-year. DOACs have transformed treatment of coagulation disorder, and now, it is the leading treatment for stroke prevention in AF and VTE prophylaxis and treatment. For more many years, oral vitamin K antagonists (VKAs) were the drug of choice in managing VTE. VKAs treatment is safe and effective if therapeutic international normalized ratio (INR) maintained on the target. However, achieving a stable, therapeutic international normalized ratio (INR) can be difficult and challenging in the context of drug and food interactions and liver disorder, resulting in undertreatment which increases the risk of thromboembolism or overtreatment which might cause bleeding. Herein, we provide an overview of DOACs indications, use in specific comorbidities, monitoring parameters, perioperative management, and reversal agents.

Primary hepatic Hodgkin's lymphoma: A case report.

Introduction: Hodgkin lymphoma (HL) is an uncommon hematological malignancy that primarily occurs in young adults and less frequently in elderly individuals. HL has characteristics cells derived from B lymphocytes (known Reed-Sternberg (HRS) cells). Primary hepatic Hodgkin disease is very rare presentation accounting for less than 0.4% of the cases. Due to its rare occurrence, the pathogenesis of PHL is still unclear, Clinical manifestations, laboratory findings, and imaging features are usually nonspecific, making it difficult to diagnose. Patient Concerns: 69 years old Saudi Female, known case of Hypertension presented to our hospital with history of fever, jaundice, and poor appetite for about 2 weeks with significant weight loss. Diagnosis: Laboratory findings showed cholestatic pattern with total bilirubin 107.2 mg/dl, alkaline phosphatase 2076 IU/l, AST 153 IU/l and ALT 73 IU/l. Imaging with US revealed normal liver size with diffuse increase echogenicity, MRCP showed multiple stones within the gallbladder without evidence of obstruction or CBD dilatation and pan-computed tomography (CT) revealed mildly enlarged and fatty liver. CT-guided fine needle aspiration cytology (FNAC) and biopsy from the liver were consistent with primary hepatic Hodgkins lymphoma. Intervention: The patient received 5 cycles of ABVD. Outcomes: After the completion of the 5 cycles patient showed good response to the treatment with normalization of her liver function and regression in the size of liver on CT. Conclusion: PHL is a rare disease. The clinical presentation is variable and radiological features are not specific. Histology is mandatory for definitive diagnosis. The optimal therapy and outcomes for PHL is still unclear. ABVD is the most frequently used chemotherapy regimen. Multidisplinary approach including surgery and radiotherapy is another option.

Spontaneous epidural hematoma: A case report of rare crisis of sickle cell disease.

INTRODUCTION: Sickle cell disease (SCD) is defined as an autosomal recessive disorder characterized by the production of abnormal hemoglobin S and is correlated with high morbidity and mortality. The clinical consequences of SCD include pain crisis, acute chest syndrome, and strokes. Spontaneous epidural hematoma is a rare manifestation in sicklers with few cases reported in the literature.[6] The pathophysiology is not completely understood. However, a few explanations have been reported over the years that include vaso-occlusion of the bone resulting in bone infarction, microfracture due to rapid expansion of hematopoiesis of the inner cortex, and sludging of the sickle cells in the diploic veins-all result in leaking of blood in the epidural or in the subgalea space. PATIENT CONCERNS: A 14-year-old boy known to have SCD (Hb SS) presented to the Security Forces Hospital with a history of diffuse headache associated with nausea that started 12 h prior to presentation. DIAGNOSIS: Computed tomography (CT) showed bilateral frontal epidural hematoma and subgaleal space. INTERVENTION: A multidisciplinary team was created (hematology, neurology, neurosurgery, and interventional radiology) and a plan was formulated as follows: Continuous monitoring of the patient's neuro vital signs and transfuse the patient with blood and platelets in addition with Levetiracetam. OUTCOMES: The patient was discharged after 9 days of hospital admission. He has remained symptom-free post-transfusion. Post-discharge CT scan showed a reduction in the hematoma size. CONCLUSION: A high index of suspicion is needed for a prompt diagnosis and treatment of this rare complication of SCD. The management strategy of EDH depends on the level of consciousness of the patient upon presentation. Surgical approach with craniotomy and evacuation or conservative management have been used with full recovery of the patients.

Mepolizumab as an effective treatment for Kimura's disease associated with ulcerative colitis: A case report.

Kimura's disease was first described by Kimura and Sceto in China in 1937. Kimura disease is a chronic inflammatory disorder of idiopathic etiology. The clinical presentation of Kimura's disease is painless solitary or multiple subcutaneous nodules, asymmetric, mostly in the head and neck region with often association with lymphadenopathy. Typically, the nodules are found on preauricular, submandibular, and popliteal regions as well as oral cavity, larynx, and parotid glands. In the present report, we describe a case of a 27-year-old male presented to our hospital with history of right neck and lip swelling for 10 days. In the history, the patient mentioned that he had bloody diarrhea four to six times day and he lost 10 kg in 1 month. The specimen was sent for histopathological examination which showed the lymph node architecture is preserved with significant increase number of eosinophils which is consistent with Kimura's disease. There is no agreement on the management aspects in Kimura's disease so far. The primary treatment for Kimura's disease includes surgical resection. Additional medical therapy including regional or systemic steroid therapy, cytotoxic therapy, and radiation has also been utilized. Considered as an inflammatory process, the disease has an excellent prognosis, although it may recur locally and wax and wane over time.

Internal jugular vein aneurysm: A case report.

INTRODUCTION: Aneurysm is a localized dilatation of an artery of at least 1.5 times the normal diameter that occurs when part of an artery wall weakens or is injured, allowing it to widen abnormally. In practice, an arterial aneurysm is more common in comparison to a venous aneurysm. Because of the rare incidence of venous aneurysms, treatment guidelines are not clearly established and thus treatment strategies vary. This is a case of a 57-year-old Saudi woman, with no significant medical history, who presented to Prince Sultan Military Hospital complaining of swelling in the right side of the neck that started 3 years ago. The patient reported that the swelling enlarged with coughing and straining, but there was no pain, change in skin color, dysphagia, change in voice, neurological defect, shortness of breath, history of any trauma to the neck, surgical intervention, or any lump. The condition can be diagnosed via ultrasonography, computed tomography, or magnetic resonance imaging. CONCLUSION: Despite the lack of guidelines, intervention was necessary because the patient was anxious regarding the increase in the size of the swelling, which she felt had a negative psychosocial impact. Moreover, because the sizable venous aneurysm harbored a mural thrombus that increased the risk of embolization and pulmonary embolism, surgery was offered.Indication for surgery includes pain, swelling, and cosmetic concerns. Conservative management of the condition is described in the literature.

Association Between Race/Ethnicity and Survival of Melanoma Patients in the United States Over 3 Decades: A Secondary Analysis of SEER Data.

UNLABELLED: Melanoma is a treatable and preventable skin cancer. It is responsible for 75% of deaths among all skin cancers. Previous studies have found that race/ethnicity may play a role in survival among melanoma patients. However, there are no studies that cover 30 years and take race into account for the U.S. POPULATION: This study is a secondary analysis of the National Cancer Institute's Surveillance, Epidemiology, and End Result (SEER) Program. Adults with primary cutaneous melanoma from 1982 to 2011 were included; the final sample size was 185,219. The outcome was survival; both cause-specific and all-cause mortality were examined. The main exposure was race/ethnicity. Kaplan-Meier survival analysis was used to estimate overall survival. Cox proportional hazards regression was used to estimate unadjusted and adjusted hazard ratios (HRs). A P-value less than 0.05 was considered statistically significant.More than 50% of patients in all races/ethnicities were diagnosed at the in situ or localized stage. Non-Hispanic White patients were more frequently diagnosed at the in situ stage. Overall, more men were diagnosed than women. The majority of cases among all races were men. Non-Hispanic Black females represented the smallest percentage of melanoma cases among all races. The smallest number of diagnoses across all races/ethnicities was made from 1982 to 1991. Median follow-up was 81 months and no collinearity was observed in the adjusted models. When examining cause-specific mortality and controlling for site and stage at diagnosis, gender, age and decade of diagnosis, the HR for non-Hispanic Black patients was lower than that for non-Hispanic White patients (HR 0.7; 95% confidence interval (CI): 0.6-0.8). However, when examining all-cause mortality, this difference disappeared (HR 1.1; 95% CI: 1.0-1.2). Stage at diagnosis impacted HR; patients diagnosed with distant metastases had significantly worse survival.When taking cause-specific mortality into consideration and after controlling for stage and site at diagnosis, gender, and age and decade of diagnosis, non-Hispanic Black patients had a lower HR compared to non-Hispanic White patients. However, this difference disappeared when examining all-cause mortality. Further research is needed to explore this finding and to determine what factors may be associated with late-stage melanoma diagnosis.