ABSTRACT
Rhabdomyosarcoma is a malignant soft tissue sarcoma of primitive mesenchymal cells, showing varying degrees of striated skeletal muscle cell differentiation. It is a very common cancer of childhood and adolescence, but rarely seen in the adult population. Here, we present a case of a 33-year-old male presented with a poorly differentiated desmin positive alveolar rhabdomyosarcoma in the left arm. The prognosis of alveolar rhabdomyosarcoma in adults is very poor, frequently detected at advanced stages or with metastases. The alveolar subtype in particular has been found to have a more aggressive course with a high rate of metastasis. Recent studies have shown that using pediatric treatment guidelines resulted in better survival outcomes and local control, but the survival rates are still below that of the pediatric population. Newer studies are looking into using specific molecular markers for more targeted therapy in hopes of further improving survival rates in the adult population.
Subject(s)
Carcinoma , Rhabdomyosarcoma , Sarcoma , Soft Tissue Neoplasms , Adult , Child , Humans , MaleABSTRACT
IgG4 (immunoglobulin G4)-related systemic disease is an autoimmune process affecting multiple organ systems. This inflammatory process can present as but not limited to pancreatitis, cholangitis, or unspecified kidney disease. In this case, our patient developed IgG4-related kidney disease while already on a prolonged steroid course for IgG4-related pancreatitis. The patient ultimately had renal recovery after starting a higher dose of prednisone, but also developed steroid-related complications. This case further highlights the relationship between IgG4 diseases now termed IgG4-related systemic disease. This case brings to light the need for further investigative research into ideal steroid dosing, as well as steroid-sparing agents for IgG4-related systemic disease.
Subject(s)
Autoimmune Diseases , Autoimmune Pancreatitis , Immunoglobulin G4-Related Disease , Pancreatitis , Autoimmune Diseases/chemically induced , Autoimmune Diseases/drug therapy , Humans , Immunoglobulin G , Immunoglobulin G4-Related Disease/complications , Immunoglobulin G4-Related Disease/drug therapy , Pancreatitis/chemically induced , Pancreatitis/drug therapyABSTRACT
Difficulty in accessing a new arteriovenous fistula (AVF) is a common technical issue in hemodialysis patients, which often leads to interventional radiology and/or vascular surgery referral. As a consequence, the patient who needs dialysis may require a temporary dialysis catheter with its known potential complications. We present a case where bedside ultrasonography facilitated successful cannulation of a difficult AVF. Ultrasonography (US) training in this procedure may allow early cannulation of new AVFs when the venous diameter is large enough (>0.6 cm) but the fistula is too deep (>0.6 cm). Real-time, US-guided AVF cannulation may also decrease the number of failed venous punctures per hemodialysis (HD) session minimizing vessel wall damage and subsequent potential hematoma and aneurysm formation.
Subject(s)
Arteriovenous Shunt, Surgical/methods , Point-of-Care Testing , Renal Dialysis , Ultrasonography, Interventional , Aged , Catheterization/methods , Humans , MaleABSTRACT
Recent increases in obesity, diabetes, and hypertension, along with the aging of the US population, are driving a dramatic rise in the prevalence of chronic kidney disease (CKD). Despite this increase, the majority of Americans with early-stage CKD remain unaware of their disease. Primary care physicians are at the forefront of efforts for early recognition of CKD and management to control its progression. Patients with CKD should be referred to nephrologists no later than the point at which their estimated glomerular filtration rate reaches 30 mL/min. Nephrology evaluation at this point is essential to facilitate timely preparation for care of end-stage renal disease through preemptive transplantation or planned transition to dialysis. In addition to stringent control of underlying hypertension and/or diabetes, mineral metabolic parameters (serum parathyroid hormone, phosphorus, calcium, and bicarbonate) in patients with advancing CKD should be managed closely to avoid adverse effects on the cardiovascular and skeletal systems.
Subject(s)
Kidney Failure, Chronic/therapy , Primary Health Care , Diabetes Mellitus, Type 2/complications , Disease Progression , Early Diagnosis , Glomerular Filtration Rate , Humans , Hypertension/complications , Kidney Failure, Chronic/diagnosis , Kidney Failure, Chronic/etiology , Kidney Failure, Chronic/prevention & control , Physician's Role , Referral and Consultation , Risk FactorsABSTRACT
BACKGROUND: Congenital absence of alpha-galactosidase in Fabry disease leads eventually to renal failure. Fabry disease is an attractive candidate for gene therapy, but uptake mechanisms of the enzyme must be understood for it to be used in treating patients with Fabry disease. METHODS: Immortalized human renal epithelial cells from three regions of the tubule were grown in culture on collagen-coated Transwell filters and were incubated with recombinant alpha-galactosidase protein placed at either the luminal or basolateral side of the cells. Uptake into cells was measured, and kinetic studies were performed. Blocking experiments were done with mannose 6-phosphate. RESULTS: Uptake from the basolateral side of the filters predominated in all three cell types. Only in distal tubule cells was mannose 6-phosphate able to block uptake to any degree. The kinetic data reveal a high Km for both luminal and basolateral cell surfaces. CONCLUSIONS: These data suggest that to correct the renal phenotype in Fabry disease, high levels of the enzyme will be need to be delivered to kidney cells. This will likely best be achieved with local administration of a vector containing the transgene directly to the kidney.
