Sclerosing

Mutations in the NPHS2 gene, encoding podocin, cause hereditary nephrotic syndrome. The most common podocin mutation, R138Q, is associated with early disease onset and rapid progression to end-stage renal disease. Knock-in mice carrying a R140Q mutation, the mouse analogue of human R138Q, show developmental arrest of podocytes and lethal renal failure at neonatal age. Here we created a conditional podocin knock-in model named NPHS2 R140Q/-, using a tamoxifen-inducible Cre recombinase, which permits to study the effects of the mutation in postnatal life...

OBJECTIVE: The pathophysiology of autoimmune hepatitis (AIH) may involve the activation of immune cells and changes in the expression of cellular markers. The aim of this study was to characterize the immunophenotype markers of lymphocytes and monocytes in the peripheral blood of children and adolescents with type 1 AIH and AIH overlap with sclerosing cholangitis (overlap syndrome, OS). METHODS: This is a cross-sectional study of 20 children and adolescents diagnosed with type 1 AIH and 19 with OS...

Biliary atresia (BA) is histologically characterized by a progressive, sclerosing cholangitis and the obstruction of extrahepatic bile ducts. In terms of the etiology and pathogenesis of BA, several viral infections consisting of dsRNA, including Reoviridae, have been implicated. Human biliary epithelial cells (BECs) possess an innate immune system consisting of Toll-like receptors (TLRs). BECs have negative regulatory mechanisms of TLR tolerance to avoid an excessive inflammatory response to lipopolysaccharide (LPS), a TLR4 ligand; however, they lack the tolerance to poly(I:C) (a synthetic analog of viral dsRNA), a TLR3 ligand...

INTRODUCTION: Varicocele is a relatively complex pathology of the scrotum veins', known to be one of the easiest to treat. Modern treatment involves both surgical (open, laparoscopic and microsurgery) and interventional approach (either with coils and/or sclerosant injection). Our aim is to demonstrate the feasibility and the reliability of endovenous laser ablation (EVLA) of the spermatic vein for the treatment of varicocele. MATERIALS AND METHODS: We consecutively and prospectively treated 11 patients (age range 24-45 years old, mean 31y) with left varicocele, phlebografically classified as Bahren type I and with indication for percutaneous treatment...

BACKGROUND: A 7-month-old male infant was admitted because he was suffering from nephrotic syndrome, along with encephalomyopathy, hypertrophic cardiomyopathy, clinically suspected deafness and retinitis pigmentosa, and an elevated serum lactate level. METHODS: Coenzyme Q10 supplementation was started because of the clinical suspicion of primary CoQ10 deficiency. Despite intensive efforts, he passed away 4 weeks after admission. RESULTS: The results of genetic tests, available postmortem, explored two hitherto undescribed mutations in the PDSS2 gene...

OBJECTIVES: This retrospective study aims at demonstrating the success rate, effectiveness, and advantages of alcohol as a scolicidal and sclerosing agent for the percutaneous treatment of liver hydatid cysts. METHODS: A total of 554 liver hydatid cysts obtained from 347 patients admitted between January 2008 and February 2016 were retrospectively investigated. Of these, 435 (78.5%), 91 (16.4%), and 28 (5%) were classified as Gharbi type 1, 2, and 3, respectively...

INTRODUCTION: Lymphatic malformations are benign, low-flow vascular malformations that typically present at or near birth. Due to morbidity associated with operative treatment, nonoperative treatment with injection of sclerosant has become the mainstay of therapy. Over the past 15 years, several patients at our centre with macrocystic (>2 cm cyst size) lymphatic malformations have seen their lesions resolve spontaneously while awaiting treatment. In this study, we review features of these patients that may contribute to spontaneous resolution...

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A 57-year-old woman presented with swelling and thickening of the skin of the lower extremities. Three months prior to presentation, patient had MRI with gadolinium as part of an evaluation for suspected pancreatic malignancy. Creatinine levels at the time of gadolinium exposure were 0.9-1.2 mg/dL, with a corresponding estimated glomerular filtration rate of 64 mL/min/1.73m(2) by modification of diet in renal disease equation. Twenty-four-hour urine creatinine clearance was performed as an outpatient following development of symptoms...

INTRODUCTION: Filarial chyluria is a frequent problem in India. While endoscopic therapy is the mainstay of treatment, it is not always successful. We aimed to determine parameters that affect outcomes of endoscopic sclerotherapy for filarial chyluria (FC). METHODS: Prospectively maintained data of FC patients who received endoscopic sclerotherapy between June 2011 and March 2015 were analyzed. Sclerotherapy included either povidone-iodine (0.1%) or silver nitrate (1%)...

The patient was a 76-year-old woman who had noticed slight difficulty in swallowing in the 3 years prior to this presentation. Her dysphagia progressed while she was hospitalized following cervical cancer surgery. Esophagogastroduodenoscopy and an esophagram showed circumferential erosion and a stricture of the thoracic esophagus. Esophageal resection was performed; the resected specimens showed a stricture and wall thickening. Histologically, transmural hyperplasia, which consisted of inflammatory granulation tissue with the abundant infiltration of IgG4-positive plasma cells and lymphocytes, was observed...

Chronic venous insufficiency is characterized by cutaneous alterations caused by venous hypertension; in severe forms, it progresses to lower limb ulcers. Lower limb varicose veins are the main cause of chronic venous insufficiency, and the classic treatment includes surgery and compressive therapy. Minimally invasive alternative treatments for varicose veins include new techniques such as venous thermal ablation using laser or radiofrequency. The use of different methods depends on clinical and anatomical factors...

A 26-year-old woman presented with a painful bulge at the rima ani. The tumor was located in the presacral region. Histological examination revealed a well-circumscribed biphenotypical tumor with papillary configured myxoid areas and strongly sclerosing regions. This case of a myxopapillary ependymoma is a rare example of a myxoid neoplastic lesion in the sacral region.

No abstract text is available yet for this article.

Puncture, Aspiration, Injection of scolicidal agent, Re-aspiration is the most widely used percutaneous treatment of cystic echinococcosis (CE). Among its perceived risks is chemical sclerosing cholangitis, a serious complication due to the caustic effect of the scolicidal solution on the biliary tree, when a patent cystobiliary fistula occurs. To simplify the protocol, we decided to omit injection and reaspiration of the scolicidal agent and to implement a full course of albendazole (ABZ) therapy instead of the routine 1-month ABZ prophylaxis...

Autoimmune liver diseases, which include mainly autoimmune hepatitis, primary biliary cholangitis, primary sclerosing cholangitis, and the variant syndromes, are often associated with extrahepatic autoimmune diseases. However, the association with cutaneous diseases is less well described. In the present article, we provide a systematic literature review on skin manifestations linked to each of these four autoimmune liver diseases, excluding skin manifestations of systemic diseases. The association of autoimmune hepatitis with vitiligo is well known, with a particular striking association with type 2 autoimmune hepatitis, a condition occurring almost entirely in children and adolescents, much rarer and more aggressive than type 1 autoimmune hepatitis; probable associations are also identified with alopecia areata, psoriasis, and pyoderma gangrenosum...

BACKGROUND & AIMS: The rarity of autoimmune liver disease poses challenges to epidemiology studies. However, waitlists for liver transplantation can be used to study patients with end-stage liver diseases. We used these waitlists to assess trends in numbers and demographics patients awaiting liver transplant for primary biliary cholangitis (PBC), primary sclerosing cholangitis (PSC), or autoimmune hepatitis (AIH). METHODS: We collected data from United Kingdom (UK) and United States (US) national registries for all adults on liver transplant waitlists, from January 1, 1995 through December 31, 2014...

BACKGROUND: Patients with primary sclerosing cholangitis (PSC) have increased risk of cholangiocarcinoma (CCA). We evaluated pre-transplant work-up in PSC patients, to search for the most effective strategy for the detection of biliary dysplasia or early CCA. METHODS: Two hundred and twenty five consecutive PSC patients undergoing liver transplantation (LTx) in Sweden between 1999 and 2013 were studied. Patients with CCA or dysplasia in the explanted liver were compared with those with benign histopathology...

OBJECTIVES/HYPOTHESIS: The aim of this study was to evaluate the utility of (18) F-fluorodeoxyglucose (FDG) positron emission tomography/computed tomography (PET/CT) for accurately diagnosing immunoglobulin G4-related sclerosing sialadenitis (IgG4-SS). STUDY DESIGN: Retrospective cohort study. METHODS: We reviewed the records of 64 patients with IgG4-SS (35 male and 29 female patients) and 10 patients with clinically suspected IgG4-SS. Pathological diagnoses of patients clinically suspected with IgG4-SS included four cases of malignant lymphoma, one case of multicentric Castleman disease, one case of Sjögren's syndrome, and four cases of sialadenitis...

Primary sclerosing cholangitis (PSC) is a chronic, idiopathic biliary tract disease characterized by segmental strictures. The disease is progressive with no proven treatments and may eventually lead to cirrhosis and end-stage liver disease. Abrupt changes in liver biochemistries, pain, and/or cholangitis may suggest a dominant stricture amenable to endoscopic therapy or the development of cholangiocarcinoma. Patients with PSC are at increased risk of cholangiocarcinoma. There is a strong association with inflammatory bowel disease, and an associated increased risk of colorectal cancer...