Erythroferrone in focus: emerging perspectives in iron metabolism and hematopathologies.

Beyond its core role in iron metabolism, erythroferrone (ERFE) has emerged as a key player with far-reaching implications in various hematologic disorders. Its regulatory effect on hepcidin underlines its significance in conditions characterized by disrupted iron homeostasis. In ß-thalassemia and myelodysplastic syndromes, its dysregulation intricately contributes to the clinical challenges of anemia and iron overload which highlights its potential as a therapeutic target. In anemia of chronic disease and iron deficiency anemia, ERFE presents a unique profile. In chronic kidney disease (CKD), the intricate interplay between ERFE, erythropoietin, and hepcidin undergoes dysregulation, contributing to the complex iron imbalance characteristic of this condition. Recent research suggests that ERFE plays a multifaceted role in restoring iron balance in CKD, beyond simply suppressing hepcidin production. The potential to modulate ERFE activity offers a novel approach to treating a spectrum of disorders associated with iron dysregulation. As our understanding of ERFE continues to evolve, it is poised to become a key focus in the development of targeted treatments, making it an exciting and dynamic area of ongoing research. Modulating ERFE activity presents a groundbreaking approach to treat iron dysregulation in conditions like iron deficiency anemia, thalassemia, and hemochromatosis. As new research unveils its intricate roles, ERFE has rapidly emerged as a key target for developing targeted therapies like ERFE agonists and antagonists. With promising studies underway, this dynamic field holds immense potential to improve patient outcomes, reduce complications, and offer personalized treatment options in hematology research. This comprehensive overview of ERFE's role across various conditions underscores its pivotal function in iron metabolism and associated pathologies.

HRCT Features Of COVID-19 In Relation To Duration Of Disease.

BACKGROUND: Despite the fact that much has been written on various aspects of COVID-19, literature lacks a detailed and accurate description of HRCT findings in relation to the duration of the disease. The aim of this study was to investigate the difference in HRCT scan findings depending on the time after onset of the disease. The objective of the study is to identify and compare findings of HRCT scan at different time points after onset of the disease. METHODS: A total of 224 patients, scanned over a period of 2 months, were placed in one of the four groups at the time of their scan depending on the days lapsed after their symptoms appeared. All scans were carried out on the same machine. Findings in each group were recorded and compared. A finding showing significant difference between groups indicates its importance in describing the course of the disease. Analysis was done on SPSS 23. RESULTS: Ground glass opacities in posterior segments of one or more lobes was the most common feature and had a significant association with first 5 days of the disease (p=.027). Interlobular thickening and subpleural reticulation, are found between 3-5 days or later in the course of the disease (p=.000). CONCLUSION: Ground glass opacities located in posterior segments are the predominant feature in patients who are scanned up to 5 days after their symptoms appear. This feature is the most common in scans done in asymptomatic cases too. Interlobular septal thickening and subpleural reticulation start appearing at 3 days of disease process.

Dot-in-Circle Sign - A Diagnostic MRI Sign for "Madura Foot".

Mycetoma is a slowly progressive localised, granulomatous, subcutaneous tissue infection common among adult males aged 20 - 50 years. The causing agents include both bacteria (actinomycetoma) and fungi (eumycetoma). This chronic infection was described in literature as Madura foot and eventually mycetoma, due to its etiology. Early clinical diagnosis before the appearance of sinuses and grains (aggregates of organism surrounded by granulation tissue, which are discharged from the draining sinuses) is difficult. Early diagnosis is important due to the therapeutic implications. Although biopsy and microbiological cultures provide definitive diagnosis. Delay in diagnosis may lead to amputation of the affected part. The recently described "dot-in-circle" sign on magnetic resonance imaging (MRI) is easy to recognise and highly specific. We present a case of histologically proven mycetoma with characteristic MRI features.

The Role of 320 Slice CT Angiography in Predicting Vascular Trauma.

OBJECTIVE: To determine the accuracy of multidetector CT angiography (MDCT angiography) as initial diagnostic technique in depicting and characterizing post traumatic vascular injuries, looking for additional injuries and confirming the findings with intervention and follow-up. STUDY DESIGN: Descriptive analytical study. PLACE AND DURATION OF STUDY: Department of Radiology, Shifa International Hospital, Islamabad, from June 2010 to October 2013. METHODOLOGY: Patients who underwent MDCT angiography for clinically suspected post traumatic vascular injury were included. All MDCT angiographies were performed on 320 slice CT (Aquilion OneTM) and were reviewed by two independent consultant radiologists. The sites of injury were intracranial, neck and maxillofacial, chest, abdomen and extremities. The presence and characteristics of vascular injuries were confirmed by post-operative findings or digital subtraction angiography (DSA). Sensitivity and specificity was calculated. RESULTS: The age of the patients ranged from 7 to 90 years with 94% (48) males and 6% (3) females. Blunt trauma was commoner than penetrating trauma. The site of injury in majority was extremities. Majority of patients had post-traumatic pseudoaneurysm formation followed by arterial occlusion, thrombosis, active extravasation, spasm, arteriovenous malformation and combination injuries. Twenty-one (41%) patients were reported as having vascular injury and confirmed by surgery or DSA. Fifteen (29.5%) patients were reported as normal and had no intervention on follow-up. The sensitivity and specificity of MDCT angiography was found as 100% and 88%, NPV of 100%, PPV of 94% and accuracy of 96%. CONCLUSION: MDCT angiography can be reliably used as an initial diagnostic technique for the evaluation and characterization of post-traumatic vascular injuries.

Multidetector CT Patterns of Peritoneal Involvement in Patients with Abdominopelvic Malignancies.

OBJECTIVE: To determine the patterns of peritoneal involvement in patients with abdominopelvic malignancies. STUDY DESIGN: Retrospective observational study. PLACE AND DURATION OF STUDY: Shifa International Hospital, Islamabad, Pakistan, from May 2004 to May 2012. METHODOLOGY: Two hundred and three patients with histopathologically proven abdominopelvic malignancies with peritoneal involvement who underwent contrast-enhanced CT abdomen and pelvis were identified through electronic data base system and were included in this study after ethical committee approval. Peritoneal disease pattern, predominant sites of involvement and associated findings of ascites, lymph nodes and metastasis were assessed. Patients with tuberculosis and lymphoproliferative disorders were excluded. RESULTS: The malignancies showing peritoneal involvement, in decreasing order of frequency, were ovarian cancer (n=118), colorectal cancer (n=45), pancreatic cancer (n=11), gastric cancer (n=7), endometrial cancer (n=6), gallbladder/ cholangio-carcinoma and hepatocellular cancer (n=5 each), cervical cancer (n=3), renal cell carcinoma (n=2) and transitional cell urinary bladder cancer (n=1). The most common pattern of peritoneal involvement was mixed in 79 patients (39%), omental caking in 74 patients (37%) and nodular deposits in 50 patients (24%). The most common sites of peritoneal involvement were pelvic peritoneum followed by greater omentum. CONCLUSION: Peritoneal involvement is the commonest with ovarian and colorectal carcinoma. Mixed pattern of peritoneal disease was most frequently seen in these patients followed by omental caking and nodular peritoneal deposits.

Cap +1 mutation; an unsuspected cause of beta thalassaemia transmission in Pakistan.

OBJECTIVE: Thalassemia is one of the most common genetic disorders worldwide. Cap +1 mutation which causes 'silent beta thalassemia' is present around all ethnic groups of Pakistan. This study was designed to detect the frequency of Cap+1 mutation in Pakistani Population. METHODS: Molecular genetic for Cap+1 beta thalassemic mutation was done by extracting DNA from whole blood by using Genomic DNA Purification Kit (Gentra system USA). Amplification Refractory Mutation System (ARMS) primers were designed for detection of normal and mutant DNA. Basic hematological parameters were performed by using automated analyzer (Sysmex KX-21). Cellulose acetate hemoglobin electrophoresis was done by using semi-automated technique (INTERLAB Roma Microtech Series Electrophoresis system 4.23). RESULTS: The frequency of Cap+1 mutation was observed 5% (10/200) in targeted thalassemic families (having patients with beta-thalassemia intermedia) while its frequency was observed 2% (12/600) in total thalassemic genes in Pakistani population. CONCLUSION: Cap+1 (A-C) is a silent mutation and it has very minimum effect on beta globin synthesis because of which it produces very less clinical severity and certain important laboratory diagnostic tests like basic hematological parameters and Hb A2 levels are also remain in normal range. Therefore individuals with Cap+1 mutation may produce children with beta-thalassemia intermedia if they marry an individual with beta-thalassemia minor. Cap+1 (A-C) mutation is an unsuspected cause of beta thalassemia transmission in Pakistani population. This mutation can identify at molecular level. As this molecular defect is difficult to diagnose in Laboratory with routine laboratory tests because of that it has become a serious hindrance for thalassemia prevention program in Pakistan.