Search Results (4)

Background and Clinical Significance: Cardiac sarcoidosis (CS) is a rare but life-threatening disorder, occurring in 2–5% of sarcoidosis cases, though post-mortem studies suggest a higher prevalence. It presents diagnostic challenges due to nonspecific symptoms and the low sensitivity of an endomyocardial biopsy. Recent guidelines emphasize multimodal imaging, such as cardiac magnetic resonance imaging (MRI) and positron emission tomography (PET). Given the risk of heart failure (HF) and arrhythmias, early detection is critical. This case highlights the role of non-invasive imaging in diagnosing CS and guiding treatment. Case Presentation: A 54-year-old female with asthma, hyperlipidemia, a recent diagnosis of anterior uveitis, and familial sarcoidosis presented with dyspnea, chest tightness, and worsening cough. Examination revealed anterior uveitis, erythema nodosum, jugular venous distension, and pedal edema. The electrocardiogram (ECG) demonstrated bifascicular block and premature ventricular contractions (PVCs). The brain natriuretic peptide (BNP) was 975 pg/mL, with the transthoracic echocardiogram revealing a left ventricular ejection fraction of 25–30% with global LV akinesis. Coronary computed tomography angiography (CCTA) excluded coronary artery disease. Cardiac MRI showed late gadolinium enhancement, with PET demonstrating active myocardial inflammation, supporting a >90% probability of CS. Given her clinical trajectory and risk of further decompensation, immunosuppressive therapy was initiated without pursuing a biopsy. A dual-chamber implantable cardioverter defibrillator (ICD) was placed due to risk of ventricular arrhythmias. Bronchoalveolar lavage (BAL) showed a CD4/CD8 ratio of 6.53, reinforcing the diagnosis. She responded well to treatment, with symptom improvement and repeat imaging demonstrating signs of disease remission. Conclusions: This case underscores the growing role of multimodal imaging in CS diagnosis, potentially replacing biopsy in select cases. Early imaging-based diagnosis enabled timely immunosuppression and ICD placement, improving outcomes. Full article

Lymphedema is characterized by chronic swelling of any body part caused by malfunctioning or obstruction in the lymphatic system. Primary lymphedema is often considered genetic in origin. VEGFC, which is a gene encoding the ligand for the vascular endothelial growth factor receptor 3 (VEGFR3/FLT4) and important for lymph vessel development during lymphangiogenesis, has been associated with a specific subtype of primary lymphedema. Through Sanger sequencing of a proband with bilateral congenital pedal edema resembling Milroy disease, we identified a novel mutation (NM_005429.2; c.361+5G>A) in VEGFC. The mutation induced skipping of exon 2 of VEGFC resulting in a frameshift and the introduction of a premature stop codon (p.Ala50ValfsTer18). The mutation leads to a loss of the entire VEGF-homology domain and the C-terminus. Expression of this Vegfc variant in the zebrafish floorplate showed that the splice-site variant significantly reduces the biological activity of the protein. Our findings confirm that the splice-site variant, c.361+5G>A, causes the primary lymphedema phenotype in the proband. We examine the mutations and clinical phenotypes of the previously reported cases to review the current knowledge in this area. Full article

Chronic constipation is a common condition which may result in fecal impaction. A 13-year-old male with chronic constipation and encopresis presented with fecal impaction for three weeks. The impaction caused abdominal pain, distension, encopresis, and decreased oral intake. He was found in severe distress with non-pitting edema of his feet and ankles along with perineal edema. The pedal edema worsened after receiving a fluid bolus, so concern arose for venous compression or a thrombus. A Duplex Ultrasound demonstrated changes in the venous waveforms of the bilateral external iliac and common femoral veins without thrombosis. Manual disimpaction and polyethylene glycol 3350 with electrolytes resolved the pedal and perineal edema. Four months later, he had soft bowel movements without recurrence of the edema. A repeat Duplex Ultrasound was normal. We present a child in whom severe fecal impaction caused pelvic venous compression resulting in bilateral pedal and perineal edema. Full article

Many natural substances with proven anti-inflammatory activity have been isolated throughout the years. The aim of this review is to review naturally sourced alkaloids with anti-inflammatory effects reported from 2000 to 2010. The assays were conducted mostly in vivo, and carrageenan-induced pedal edema was the most used experimental model. Of the 49 alkaloids evaluated, 40 demonstrated anti-inflammatory activity. Of these the most studied type were the isoquinolines. This review was based on NAPRALERT data bank, Web of Science and Chemical Abstracts. In this review, 95 references are cited. Full article