Search results for "cyst"
showing 10 items of 1960 documents
Cystatin C levels are decreased in acute myocardial infarction: Effect of cystatin C G73A gene polymorphism on plasma levels
2005
Background: Cystatin C is the most abundant protease inhibitor in the plasma. Low plasma levels have been found in patients with aortic aneurysms and they seem correlated with the extension of the aortic lesions in early aneurysms detected by ultrasonography. Methods: In this study, plasma levels of cystatin C have been investigated in patients with acute myocardial infarction (AMI), unstable angina and controls. The effect on plasma levels of the G73A polymorphism of the CST3 gene has been also evaluated. Results: Patients with acute myocardial infarction showed significantly lower levels of cystatin C compared to unstable angina and controls, but levels were nearly normal in a week after …
WNT2 activation through proximal germline deletion predisposes to small intestinal neuroendocrine tumors and intestinal adenocarcinomas
2021
Abstract Many hereditary cancer syndromes are associated with an increased risk of small and large intestinal adenocarcinomas. However, conditions bearing a high risk to both adenocarcinomas and neuroendocrine tumors are yet to be described. We studied a family with 16 individuals in four generations affected by a wide spectrum of intestinal tumors, including hyperplastic polyps, adenomas, small intestinal neuroendocrine tumors, and colorectal and small intestinal adenocarcinomas. To assess the genetic susceptibility and understand the novel phenotype, we utilized multiple molecular methods, including whole genome sequencing, RNA sequencing, single cell sequencing, RNA in situ hybridization…
Epithelial markers and differentiation in adnexal neoplasms of the skin: an immunohistochemical study including individual cytokeratins
1995
Applying immunohistochemical procedures for the detection of eight different cytokeratin (CK) polypeptides and other differentiation markers, we compared the staining patterns of normal cutaneous structures with those of benign adnexal tumors (n = 65). Syringomas exhibited a marker pattern highly reminiscent of that seen in normal dermal eccrine ducts (EMA in peripheral cells, CK 10 in intermediate cells, and CK 6, CK 19, and CEA in luminal cells). Nodular hidradenomas exhibited complex patterns suggesting relationship between tumor cells, including clear cells, and normal secretory coil cells (CK 7, CK 8, CK 19, and EMA); however, dermal-duct and epidermoid differentiation were also detect…
Oral health of cystic fibrosis patients at a north american center: A pilot study
2019
Background The objective of this study was to describe the oral health status of Cystic Fibrosis (CF) children in a US facility. Material and Methods Twenty CF children ages 6-18 were recruited from Children’s Hospital of Wisconsin Pulmonary Clinic. Parents completed a health questionnaire. Clinical examinations checked dental caries using the dmft/DMFT index, dental hygiene using the Simplified Greene-Vermillion Index (DI-S), gingival inflammation using the Community Periodontal Index of Treatment Needs, and enamel defects using the modified Developmental Defects of Enamel Index. Results The majority (90%) brush twice a day, 65% consume sugary snacks, and 70% visit the dentist every 6 mont…
TCTN3 Mutations Cause Mohr-Majewski Syndrome
2012
Orofaciodigital syndromes (OFDSs) consist of a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities that lead to the delineation of 13 OFDS subtypes. Here, by a combined approach of homozygozity mapping and exome ciliary sequencing, we identified truncating TCTN3 mutations as the cause of an extreme form of OFD associated with bone dysplasia, tibial defect, cystic kidneys, and brain anomalies (OFD IV, Mohr-Majewski syndrome). Analysis of 184 individuals with various ciliopathies (OFD, Meckel, Joubert, and short rib polydactyly syndromes) led us to identify four additional truncating TCTN3 mutations in un…
Analysis of tear proteins by one- and two-dimensional thin-layer iosoelectric focusing, sodium dodecyl sulfate electrophoresis and lectin blotting. D…
1998
· Background: Isoelectric focusing (IEF) of tear proteins has not yet been carried out in a satisfactory way. Two-dimensional (2D) electrophoresis, especially in the combination of IEF with SDS, is able to differentiate between proteins in detail. The purpose of this study was therefore to analyze tear proteins by 1D IEF alone and in combination with a 2D pattern, and by IEF followed by lectin staining. · Methods: Ampholines, covering a broad range from pH 3 to pH 10, were applied. After IEF, semi-dry blotting and incubation with a group II lectin and two group V lectins was performed. · Results: Tear proteins could be separated into 31 single bands. Tear-specific pre-albumin (TSPA), lactof…
Cystic lymphangioma of adrenal gland. Case report and review of the literature
2009
Il linfoangioma surrenalico cistico è una neoplasia beni- gna rara che origina da una ectasia dei vasi linfatici; questa lesione si localizza, più frequentemente, nella regione del collo, ascellare e mediastinica. Lo scopo di questo studio è descrivere il caso di una donna di 60 anni con dolore addominale ricorrente che si è sot- toposta ad un esame ecografico che ha mostrato la presenza di una massa cistica in corrispondenza del polo superiore del rene; quindi l’origine della massa, il surrene, è stata identificata attraverso la Tomografia Compiuterizzata, eseguita con mezzo di contrasto. Successivamente la paziente ha effettuato la Risonanza Magnetica che ha meglio caratterizzato la lesio…
Pharmacological Interventions on Asymmetric Dimethylarginine, a Clinical Marker of Vascular Disease
2011
The aim of this paper is to review the latest data on the pharmacological modulation of asymmetric dimethylarginine in human disease. When the terminal nitrogens of the guanidine portion of an arginine become methylated through the action of N-methyl transferases, two chemically close, but physiologically different amino acids are synthesized: symmetric and asymmetric dimethylarginine. The vascular origin of asymmetric dimethylarginine and its inhibitory activity on endothelial nitric oxide synthase give it an important role in certain diseases in which microcirculation is compromised: hypertension, atherosclerosis, inflammatory bowel disease, and diabetes. This review discusses the role th…
24. Aminooxyacetate, an inhibitor of H2S production, potentiates lindane-induced convulsions in rats
2013
Purpose: H 2 S is a gaseous molecule recently recognized as endogenously produced neurotransmitter with different, still not well known, physiological and pathological roles. Cystathionine- β -synthase (CBS) is a major enzyme responsible for H 2 S production in the brain. The aim of this study was to investigate the effects of aminooxyacetate, potent CBS inhibitor, on convulsions induced by lindane in rats. Methods: Adult male Wistar albino rats were intraperitoneally (i.p.) treated with lindane 4 mg/kg and observed for convulsive behavioral manifestations during next 30 min. Aminooxyacetate (0.25 mmol/kg) or saline were injected 30 min prior to lindane administration. Seizure behavior was …
Relationship between apoptosis and survival molecules in human cumulus cells as markers of oocyte competence
2017
SummaryTo select from a single patient the best oocytes able to reach the blastocyst stage, we searched for valuable markers for oocytes competence. We evaluated the DNA fragmentation index (DFI) and the level of some survival molecules, such as AKT, pAKT and pERK1/2, in individual cumulus cell–oocyte complexes (COC). The study included normo-responder women. The average age of the patients was 34.3. DFI in cumulus cells was evaluated using the terminal deoxynucleotidyl transferase (TdT) dUTP nick-end labelling (TUNEL) assayin situ. AKT, pAKT and pERK1/2 were measured by immunological assay and densitometric analysis of fluorescent signals using NIS-Elements BR 3.10 image software. Statisti…