Project description:BackgroundDrug-induced phospholipidosis (DIPL) is an acquired lysosomal storage disorder characterized by the accumulation of lamellar bodies and phospholipids, typically associated with the use of cationic amphiphilic drugs (CADs). Over 200 marketed CADs, including widely prescribed β-blockers, have the potential to induce phospholipid deposition in various organs. In rare cases, DIPL may lead to secondary cardiomyopathy.Case summaryWe report the case of a 70-year-old man with a history of hypertension, permanent atrial fibrillation, and Stanford type B aortic dissection. The patient presented with a 2-week history of worsening dyspnoea. Examination revealed cardiomegaly, elevated B-type natriuretic peptide, and left ventricular dysfunction with an ejection fraction of 24%. Despite intensive medical treatment, the patient developed severe pulmonary congestion and died on Day 35. Post-mortem examination revealed vacuolar degeneration and lamellar body accumulation in the myocardium, consistent with DIPL. The most likely causal agent was bisoprolol, one of the patient's prescribed CADs.DiscussionWhile β-blockers are commonly used for the treatment of hypertension and heart failure, their potential to induce phospholipid deposition in the heart is rare but significant. This case underscores the need for awareness of DIPL as a potential adverse effect, especially in patients receiving CADs.
Project description:Renal leiomyosarcomas (LMS) are extremely rare neoplasms with aggressive behaviour and poor survival prognosis. The most frequent somatic events in leiomyosarcomas are mutations in TP53, RB1, ATRX and PTEN genes, chromosomal instability and chromoanagenesis. By using chromosomal microarray analysis we identified monosomy of chromosomes 3 and 11, gain of Xp (ATRX) arm and three chromoanasynthesis regions (6q21-q27, 7p22.3-p12.1 and 12q13.11-q21.2), with MDM2 and CDK4 oncogenes copy number gains, whereas no CNVs or tumor specific SNVs in TP53, RB1 and PTEN genes were observed.
Project description:Bullous pemphigoid (BP) is a rare, life-threatening autoimmune blistering disease with pruritus and tension blisters/bullous as the main clinical manifestations. Glucocorticosteroids are the main therapeutic agents for it, but their efficacy is poor in some patients. Tofacitinib, a small molecule agent that inhibits JAK1/3, has shown incredible efficacy in a wide range of autoimmune diseases and maybe a new valuable treatment option for refractory BP. To report a case of refractory BP successfully treated with tofacitinib, then explore the underlying mechanism behind the treatment, and finally review similarities to other cases reported in the literature. Case report and literature review of published cases of successful BP treatment with JAK inhibitors. The case report describes a 73-year-old male with refractory BP that was successfully managed with the combination therapy of tofacitinib and low-dose glucocorticoids for 28 weeks. Immunohistochemistry and RNA sequencing were performed to analyze the underlying mechanism of tofacitinib therapy. A systematic literature search was conducted to identify other cases of treatment with JAK inhibitors. Throughout the 28-week treatment period, the patient experienced clinical, autoantibody and histologic resolution. Immunohistochemical analysis showed tofacitinib significantly decreased the pSTAT3 and pSTAT6 levels in the skin lesions of this patient. RNA sequencing and immunohistochemical testing of lesion samples from other BP patients identified activation of the JAK-STAT signaling pathway. Literature review revealed 17 previously reported cases of BP treated with four kinds of JAK inhibitors successfully, including tofacitinib (10), baricitinib (1), upadacitinib (3) and abrocitinib (3). Our findings support the potential of tofacitinib as a safe and effective treatment option for BP. Larger studies are underway to better understand this efficacy and safety.
Project description:Angiogenesis inhibitors such as tyrosine kinase inhibitors (TKIs) are common therapeutics currently used to treat oncologic disease. Surufatinib is a novel, small-molecule multiple receptor TKI approved by the National Medical Products Administration (NMPA) for the treatment of progressive, advanced, and well-differentiated pancreatic and extrapancreatic neuroendocrine tumours (NETs). Thrombotic microangiopathy (TMA) is a well-documented complication of TKIs targeting the VEGF-A/VEGFR2 signalling pathway. Here, we describe a 43-year-old female patient with biopsy-proven TMA and nephrotic syndrome due to surufatinib treatment for adenoid cystic carcinoma. Histological lesions included glomerular endothelial swelling, widening of subendothelial spaces, mesangiolysis, and double contour, which caused nephrotic proteinuria. Effective management was achieved by drug withdrawal and oral anti-hypertensive regents. The management of surufatinib-related nephrotoxicity without compromising its anticancer effects is challenging. Hypertension and proteinuria must be closely monitored during drug use to reduce or stop the dose in a timely manner before severe nephrotoxicity occurs.
Project description:We report a case of a 55 years old women who present a ALK associated renal cell carcinoma, with 3p deletion and measling of TFE3 expression. With CGH analysis and FISH we identify the rearrangment of ALK with TPM3
Project description:Renal artery embolism was first described in 1940, but it is only recently becoming recognized as a clinically significant entity. Although relatively uncommon, it is clearly responsible for considerable morbidity in patients who experience it. The pathogenesis is typically related to cardiac thrombus formation with subsequent embolization, although other etiologies have been described. The authors present a case report followed by a review of the literature to highlight the clinical characteristics of this phenomena. Presentation, diagnostics, and treatment options will be reviewed with the aim of increasing awareness of renal artery embolism. As clinicians become more familiar with this condition, they will be more likely to consider it as a possible diagnosis in patients with a typical presentation. This will hopefully lead to improved care through prompt diagnosis and treatment, particularly as one treatment option may be time sensitive.
Project description:BACKGROUND:The purpose of this case report is to increase the awareness of tigecycline-induced pancreatitis specifically in renal transplant patients predisposed to the condition. CASE PRESENTATION:A 48-year-old woman developed a donor-derived infection after kidney transplantation, resulting in a ruptured graft renal artery, followed by peritoneal drainage, blood and urine culture infections. Due to multiple drug resistance Acinetobacter baumannii cultured from the preservation fluid and blood, she was treated with tigecycline at the 8th post-transplant day combined with other antibiotics. After 15 days of tigecycline treatment, she was observed with recurrent fever and abdominal distension with a rise in pancreatic enzymes. CT scans showed acute pancreatitis with grade D on Balthazar score, no necrosis visible without contrast injection. These facts were sufficient to hint that pancreatitis was slowly becoming prominent. After withdrawal of tigecycline, CT scans showed that exudation around the pancreas were relieved, and blood amylase returned to the normal range in a week. CONCLUSIONS:Clinicians should pay attention to clinical signs and symptoms and the level of serum pancreatic enzymes in order to monitor the development of pancreatitis. If necessary, abdominal CT scans should be performed regularly when given tigecycline.
Project description:Adult renal neuroblastoma (NB) is extremely rare, and there have been only a few cases previously described in the literature. We report a case of adult renal NB and summarize the clinical and imaging features of the reported cases.A 41-year-old female was admitted to our hospital with a chief complaint of gross hematuria that had persisted for a month. Nonenhanced computed tomography (CT) revealed a hypodense right renal mass without calcification. Enhanced CT showed an infiltrative, heterogeneously enhancing right renal mass with retrocaval lymphadenopathy and right renal vein thrombus. Magnetic resonance imaging (MRI) revealed that the right renal mass was isointense relative to the renal parenchyma on nonenhanced T1-weighted images; it showed mixed hypointensity and hyperintensity on T2-weighted images, and heterogeneous enhancement with a hyperintense rim on fat-saturated, enhanced T1W images. The initial impression was renal cell carcinoma (RCC).Adult renal neuroblastoma.Right nephroureterectomy with lymph node dissection was performed. The pathology and immunohistochemistry confirmed the diagnosis of renal NB with retrocaval lymphadenopathy and retroperitoneal metastasis.After surgery, the patient received 6 courses of chemotherapy, and no recurrence was observed during a 24-month follow-up period.The clinical picture of adult renal NB is that of a 44-year-old woman, presenting with an abdominal or renal mass about 13cm in size, accompanied by hypertension, hematuria, or pain. In contrast to CT features described in previous literature, no tumor calcification is mentioned in these adult renal NB cases. It is difficult to differentiate renal NB from RCC based on CT or MRI. However, biopsy, urinary catecholamine levels, and metaiodobenzylguanidine (MIBG) scan may aid in presurgical diagnosis.