Search results for " biopsy"

Liquid biomarkers for fibrotic NASH – progress in a complex field

2022

Sural nerve biopsy studies in leigh's subacute necrotizing encephalomyelopathy

1986

Peripheral neuropathy marked by reduced nerve conduction velocities was found in four unrelated children, between the ages of 15 months and 9 years, whose autopsies revealed Leigh's subacute necrotizing encephalomyelopathy. Sural nerve biopsies disclosed primary demyelination and remyelination, as well as loss of myelinated and unmyelinated axons. The use of morphometric and electron microscopic studies shows that these techniques may reveal peripheral neuropathy in Leigh's disease more often than light microscopic methods alone.

2020

In midlife, women experience hormonal changes due to menopausal transition. A decrease especially in estradiol has been hypothesized to cause loss of muscle mass. This study investigated the effect of menopausal transition on changes in lean and muscle mass, from the total body to the muscle fiber level, among 47–55-year-old women. Data were used from the Estrogenic Regulation of Muscle Apoptosis (ERMA) study, where 234 women were followed from perimenopause to early postmenopause. Hormone levels (estradiol and follicle stimulating hormone), total and regional body composition (dual-energy X-ray absorptiometry (DXA) and computed tomography (CT) scans), physical activity level (self-reported…

205th ENMC International Workshop: Pathology diagnosis of idiopathic inflammatory myopathies Part II 28-30 March 2014, Naarden, The Netherlands.

2015

The idiopathic inflammatory myopathies (IM) are a heterogeneous group of diseases and diagnosis often necessitates a muscle biopsy. Five main entities are recognized: (1) dermatomyositis (DM); (2) polymyositis (PM); (3) necrotizing autoimmune myopathy (NAM); (4) sporadic inclusion body myositis (IBM); and (5) non-specific myositis. Other entities include granulomatous myopathy, macrophagic myofasciitis, and eosinophilic fasciitis (Shulman's syndrome). The pathological classification and subsequent identification of disease subgroups are extremely important for assessing treatment options and prognosis in the individual patient, yet classification criteria have not been standardized and vali…

Giant hepatocellular adenoma as cause of severe abdominal pain: a case report

2007

Abstract The authors describe the case of a large hepatocellular adenoma diagnosed in a 30-year old woman who came to us complaining of acute pain in the upper abdominal quadrants. The patient had been taking an oral contraceptive pill for the last ten years. We present the clinical features, the diagnostic work-up and the treatment prescribed.

Effectiveness and safety of lomitapide in a patient with familial chylomicronemia syndrome

2020

Background: Familial chylomicronemia syndrome (FCS) is characterized by severe fasting hypertriglyceridemia, abdominal pain, and recurrent acute pancreatitis. Available triglyceride-lowering drugs are insufficient to avoid pancreatitis. Therefore, there is a significant unmet medical need for effective triglyceride-lowering drugs for patients with FCS. Case report: We report the second case of a patient with FCS and recurrent pancreatitis treated with lomitapide. Lomitapide treatment resulted in a reduction of fasting TG levels from 2897 mg/dL (32.71 mmol/L) to an average of 954 mg/dL (10.77 mmol/L) on the 30 mg lomitapide equating to a 67% reduction from baseline. After 26 months of lomita…

Anti-glomerular basement membrane antibody-mediated glomerulonephritis due to glue sniffing

1987

A 16-year-old girl developed rapidly progressive glomerulonephritis and renal failure. The disease was associated with high titres of antiglomerular basement membrane antibodies in serum, linear deposits of immunoglobulin G and diffuse epithelial crescents on renal biopsy. Past history revealed heavy smoking and deliberate sniffing of Pattex glue, a mixture of hydrocarbons which possibly may affect the structure of glomerular basement membrane. After treatment by repeated plasmapheresis and drug immunosuppression autoantibodies disappeared from serum but renal function was not influenced. Renal damage is a potential hazard for glue sniffing adolescents.

Endometrial receptivity revisited: endometrial transcriptome adjusted for tissue cellular heterogeneity

2018

Study question Does cellular composition of the endometrial biopsy affect the gene expression profile of endometrial whole-tissue samples? Summary answer The differences in epithelial and stromal cell proportions in endometrial biopsies modify the whole-tissue gene expression profiles and affect the results of differential expression analyses. What is already known Each cell type has its unique gene expression profile. The proportions of epithelial and stromal cells vary in endometrial tissue during the menstrual cycle, along with individual and technical variation due to the method and tools used to obtain the tissue biopsy. Study design, size, duration Using cell-population specific trans…

Can We Define the Risk of Lymph Node Metastasis in Early-Stage Cervical Cancer Patients? A Large-Scale, Retrospective Study

2017

BACKGROUND: Sentinel lymph node (SLN) biopsy has emerged as one of the most appreciated techniques for reducing the rate of complete lymph node dissection (LND) performed in patients with early-stage cervical cancer (ECC). However, its performances are still a matter of debate and, to improve them, international guidelines recommend performing at least unilateral LND in case of SLN mapping. In a prior study, we identified a group of patients without evidence of lymph node metastasis (LNM). Our objective is to define a precise risk of LNM for each ECC patient in order to significantly tailor surgery for ECC. METHODS: Clinical and pathological data of ECC patients were retrospectively collect…

Whole-body MRI, FDG-PET/CT, and bone marrow biopsy, for the assessment of bone marrow involvement in patients with newly diagnosed lymphoma.

2016

To compare whole-body MRI (WB-MRI) with diffusion-weighted imaging (DWI), FDG-PET/CT, and bone marrow biopsy (BMB), for the evaluation of bone marrow involvement (BMI) in patients with newly diagnosed lymphoma.This retrospective study was approved by our Institutional Review Board. Two independent radiologists and one nuclear medicine specialist reviewed all WB-MRI and FDG-PET/CT scans prospectively performed on 104 patients with newly diagnosed lymphoma (53 males; 47 Hodgkin; mean age: 44 years; range, 15-86 years) between 2013 and 2015. The delay between imaging scans and BMBs was up to 10 days. The diagnostic accuracy of WB-MRI (1.5 Tesla MR scanner, with T1w, T2w-STIR, and DWI sequences…