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Acute myeloid leukemia (AML) shows multiple chromosomal translocations & point mutations which can be used to refine risk-adapted therapy in AML patients. Ecotropic viral integration site-1 (EVI-1) & myocyte enhancer factor 2 C gene (MEF2C) are key regulatory transcription factors in hematopoiesis and leukemogenesis & both drive immune escape. This prospective study involved 80 adult de novo AML patients recruited from Oncology Center, Mansoura University, between March 2019 and July 2021. The MEF2C and EVI1 expression were measured using a Taqman probe-based qPCR assay. The results revealed that EVI1 and MEF2C expression were significantly elevated in AML patients as compared to control subjects (p = 0.001. 0.007 respectively). Aberrant expressions of EVI1 and MEF2C showed a significant negative correlation with hemoglobin levels (p = 0.034, 0.025 respectively), & bone marrow blasts (p = 0.007, 0.002 respectively). 11q23 translocation was significantly associated with EVI1 and MEF2C (p = 0.004 and 0.02 respectively). Also, t (9;22) was significantly associated with EVI1 and MEF2C (p = 0.01 and 0.03 respectively), higher expression of EVI1 and MEF2C were significantly associated with inferior outcome after induction therapy (p = 0.001 and 0.018 respectively) and shorter overall survival (p = 0.001, 0.014 respectively). In conclusion, EVI1 & MEF2C were significantly expressed in AML cases. EVI1 & MEF2C overexpression were significantly associated with 11q23 rearrangements and t (9;22) and were indicators for poor outcome in adult AML patients; These results could be a step towards personalized therapy in those patients.
Assuntos
Leucemia Mieloide Aguda , Proteína do Locus do Complexo MDS1 e EVI1 , Fatores de Transcrição MEF2 , Translocação Genética , Humanos , Fatores de Transcrição MEF2/genética , Leucemia Mieloide Aguda/genética , Leucemia Mieloide Aguda/terapia , Masculino , Proteína do Locus do Complexo MDS1 e EVI1/genética , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Cromossomos Humanos Par 11/genética , Estudos Prospectivos , Adulto Jovem , Rearranjo Gênico , AdolescenteRESUMO
This case report highlights an uncommon presentation of small bowel lymphoma as gastrointestinal bleeding in an 87-year-old female with a history of ulcerative colitis. Despite non-specific symptoms and negative findings on upper endoscopy and colonoscopy, ileoscopy revealed a distal ileal mass with a solitary non-bleeding ulcer, confirmed by biopsy as diffuse large B-cell lymphoma (DLBCL). The patient opted for palliative management. Small intestinal lymphomas, particularly DLBCL, pose diagnostic challenges due to their varied presentations. Timely detection is crucial for optimal outcomes, emphasizing the importance of prompt utilization of diagnostic methods in suspected cases.
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Microscopic colitis (MC) is characterized by chronic watery diarrhea that requires histological examination for diagnosis. Here, we present a case of a 63-year-old female with rheumatoid arthritis who developed persistent diarrhea following leflunomide initiation. Despite a normal colonoscopy, random colonic biopsies confirmed MC. Discontinuation of leflunomide led to symptom resolution, implicating it as the causative agent. Leflunomide-induced MC is exceedingly rare, with limited documented cases. Understanding its variability in presentation and timely recognition is crucial. This case underscores the importance of thorough medication history assessment and consideration of drug-induced colitis in patients presenting with unexplained diarrhea, facilitating prompt management and resolution.
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Gastroparesis significantly affects quality of life and healthcare expenditure. Effective treatment options are limited, and the utility of current prokinetic agents is inhibited by serious adverse effects. There exists an unmet need for prokinetic agents demonstrating both efficacy and an acceptable adverse effect profile. Highly selective 5-Hydroxytryptamine receptor 4 (5-HT4) agonists have exhibited clinical efficacy and safety in randomized controlled trials (RCTs). Consequently, we conducted a meta-analysis to comprehensively assess the safety and efficacy of these highly selective agents. Multiple databases, including PubMed, Scopus, and Embase, were systematically screened from inception until September 2023. Only RCTs evaluating the efficacy and safety of highly selective 5-HT4 agonists for gastroparesis were included. Key outcomes of interest included the pooled rates of Gastroparesis Cardinal Symptom Index (GCSI) scores, gastric emptying time (GET), and adverse event rates in each group. We adhered to standard meta-analysis methodology utilizing the random-effects model, with heterogeneity assessed by I2 statistics. Our analysis identified six RCTs, comprising 570 patients with diabetic (48%) or idiopathic (51%) gastroparesis, with mean ages of 46 and 45.9 years in the intervention and placebo groups, respectively. In the meta-analysis, highly selective 5-HT4 agonists demonstrated significantly superior pooled GCSI scores compared to placebo (mean difference: 4.283, (1.380, 7.186), p<0.05). Pooled GET was also significantly improved with 5-HT4 agonists compared to placebo (mean difference: 2.534, (1.695, 3.373), p<0.05). Although pooled rates of total adverse events were higher with 5-HT4 agonists (mean difference: 6.975, (1.042, 46.684), p<0.05), rates of specific adverse events such as diarrhea, abdominal pain, and headaches were comparable. In conclusion, this meta-analysis underscores a statistically significant improvement in GET and GCSI scores among patients receiving highly selective 5-HT4 agonists (Velusetrag, Felcisetrag, Prucalopride) for both diabetic and idiopathic gastroparesis. While the overall adverse effect profile is deemed acceptable, larger studies with extended follow-up periods are needed to investigate rare and/or serious adverse events. Moreover, future high-quality RCTs comparing the efficacy and safety of these novel agents with currently available agents are essential to further validate these findings.
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This case report presents a rare but severe complication of polyethylene glycol (PEG) used for colonoscopic bowel preparation. A 71-year-old male developed cardiac arrest secondary to hypovolemic shock following consumption of GoLytely. Despite being hemodynamically stable prior to ingestion, the patient experienced extreme weakness, dizziness, and orthostatic hypotension post-consumption. Evaluation ruled out other causes of arrest. While serious complications from PEG are rare, this case underscores the importance of vigilance. Further investigation is warranted to elucidate the relationship between PEG use and cardiac events and to identify potential risk factors for adverse outcomes associated with bowel preparation regimens.
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Iron deficiency anemia (IDA) is a prevalent condition globally, often necessitating intravenous iron therapy. We present a case of a 71-year-old female with IDA who experienced a severe anaphylactic reaction shortly after commencing a sodium ferric gluconate complex infusion. Prompt cessation of the infusion and administration of epinephrine with steroids led to rapid recovery. This case underscores the importance of recognizing and managing rare yet potentially life-threatening hypersensitivity reactions to intravenous iron formulations, highlighting the need for vigilance among healthcare providers.
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Superior mesenteric artery (SMA) syndrome is a rare cause of small bowel obstruction characterized by duodenal compression due to the narrowing of the SMA-aorta angle. We present a case of a 43-year-old male with postprandial chest pain, severe weight loss, and a narrowed aortomesenteric angle evident on computed tomography. Conservative management, including hydration, positioning, and weight gain, was initiated, leading to symptom resolution. SMA syndrome diagnosis requires clinical suspicion and radiological confirmation. Understanding this syndrome's varied presentations, diagnostic challenges, and therapeutic approaches is crucial for prompt management, especially when atypical symptoms like chest pain manifest, as seen in our case.
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Budd-Chiari syndrome (BCS) is a rare hepatic venous outflow obstruction typically associated with hypercoagulable states. We present a unique case of a 29-year-old male with BCS triggered by a recent Epstein-Barr virus (EBV) infection. Workup unveiled antiphospholipid antibody syndrome as an underlying prothrombotic condition. Diagnostic challenges included inconclusive ultrasound findings, necessitating magnetic resonance imaging for confirmation. This case underscores the importance of considering infectious triggers for venous thromboembolism in BCS. Understanding the potential link between EBV and thrombosis warrants further investigation.
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Groove pancreatitis, a rare subtype of chronic pancreatitis, predominantly affects middle-aged men with a history of alcohol abuse. We present a unique case of a 31-year-old female with minimal alcohol consumption. Imaging revealed characteristic findings consistent with groove pancreatitis. Despite its rarity in young females, clinical suspicion led to the appropriate diagnosis and conservative management, resulting in symptomatic resolution. This case underscores the importance of recognizing atypical presentations of groove pancreatitis, emphasizing the necessity of tailored diagnostic approaches, and highlighting the efficacy of conservative management in achieving favorable outcomes, particularly in non-typical demographics.
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This case report presents a unique instance of ascites in acute alcoholic hepatitis (AH) occurring in a non-cirrhotic patient. Comprehensive diagnostic evaluation excluded alternative etiologies, pinpointing sinusoidal non-cirrhotic portal hypertension. Present therapeutic modalities for AH, including steroids and pentoxifylline, offer limited efficacy, necessitating ongoing investigation. Liver transplantation may be contemplated in refractory cases. This case underscores the intricate nature of AH presentations and the challenges in their management, emphasizing the imperative need for continued research to delineate optimal therapeutic strategies. Early intervention remains pivotal in addressing AH complications, underscoring the need for heightened clinical vigilance and proactive treatment approaches in such cases.
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Bouveret syndrome, a rare complication of cholelithiasis resulting in gallstone ileus, presents diagnostic and therapeutic challenges due to its low incidence and nonspecific symptoms. We report a case of Bouveret syndrome in a middle-aged male without significant medical history, emphasizing the need for heightened clinical suspicion. Diagnostic imaging, including computed tomography and upper endoscopy, revealed gastric outlet obstruction and a cholecystoduodenal fistula. Treatment involved unsuccessful endoscopic lithotripsy followed by surgical intervention. This case underscores the importance of interdisciplinary collaboration for successful management. With no standardized approach, individualized treatment strategies, including endoscopic and surgical interventions, are crucial for favorable outcomes in Bouveret syndrome.
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We present a case of a 58-year-old male with a rare duodenal carcinosarcoma causing gastric outlet obstruction. Despite its aggressive nature and poor prognosis, with only 12 documented cases in the literature, this report sheds light on the clinical presentation and challenges in diagnosis and treatment. Carcinosarcoma, characterized by both carcinomatous and sarcomatous elements, poses difficulties in management due to its diverse tissue characteristics. Surgical resection remains the primary treatment, although the prognosis remains grim, emphasizing the need for further research into advanced therapeutic strategies to improve patient outcomes. This case underscores the rarity and clinical complexities associated with duodenal carcinosarcomas.
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Solitary necrotic nodules in the liver present a diagnostic challenge due to their rarity and resemblance to metastatic tumors. We report a case where imaging revealed multiple hepatic lesions suggestive of malignancy, prompting a needle biopsy. Histopathology confirmed necrosis without malignancy. Despite advancements in imaging modalities, distinguishing solitary necrotic nodules from metastases remains difficult. Recognition of characteristic imaging features and consideration of biopsy are crucial for accurate diagnosis and management. This case underscores the importance of thorough evaluation and differential diagnosis in liver lesions to prevent unnecessary surgical interventions and ensure appropriate clinical care.
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Background and objectives Hepatocellular carcinoma (HCC) is a highly aggressive malignant tumor with a poor prognosis. It is currently the second most common cause of cancer-related mortality. Arctiin, a compound found in plants commonly used as a vegetable in Asian countries and as an ingredient in traditional European dishes, possesses various properties, including anti-proliferative, anti-senescence, anti-oxidative, anti-tumor, toxic, anti-adipogenic, and anti-bacterial effects. Our study aims to investigate the potential antitumor activity of arctiin against HCC in rats by inhibiting cell fibrosis and apoptosis. Methods Rats were induced with HCC by administering thioacetamide. Arctiin was orally administered to some rats twice a week for 16 weeks at a dose of 30 mg/kg. The liver impairment was evaluated by measuring serum α-fetoprotein (AFP) and examining liver sections stained with Masson trichrome or anti-hypoxia-induced factor-1α (HIF-1α) antibodies. The hepatic expression of messenger RNA and protein levels of HIF-1α, protein kinase C (PKC), extracellular signal-regulated kinase (ERK), ß-catenin, and mothers against decapentaplegic homolog 4 (SMAD4) were analyzed. Results Our study demonstrated that arctiin can potentially increase the survival rate of rats. This is achieved through a reduction in serum AFP levels and hepatic nodules. We also observed that arctiin has the ability to inhibit the formation of fibrotic tissues and necrotic nodules in HCC rats. Additionally, arctiin can significantly decrease the expression of HIF-1α, PKC, ERK, ß-catenin, and SMAD4. Conclusion Arctiin has demonstrated potential anti-tumor properties that could ameliorate HCC. Studies have shown that it may increase survival rates and reduce the number of tumors and AFP levels. Arctiin works by inhibiting HCC-induced hypoxia, thus blocking the expression of HIF-1α. It also helps to slow down tumor fibrosis by decreasing the expression of ß-catenin and SMAD4. Furthermore, arctiin has been found to downregulate PKC and ERK, reducing hepatic tissue apoptosis.
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This study explores a rare occurrence of acute pancreatitis induced by herpes simplex virus (HSV) in an immunocompetent adult. The patient, initially diagnosed with pancreatitis presumed to be gallstone-related, exhibited persistent symptoms and elevated lipase levels. Endoscopic ultrasound revealed necrotizing pancreatitis without stones, prompting suspicion of an atypical cause. Subsequent serology confirmed acute HSV infection. This case underscores the importance of considering viral etiologies in atypical pancreatitis cases, especially when hepatitis coexists. The study contributes to the limited literature on HSV-induced pancreatitis in immunocompetent individuals, emphasizing the significance of early recognition and appropriate management in the absence of typical risk factors.