Search results for "Edema"

Comparative architectural aspects of regions of conserved synteny on human chromosome 11p15.3 and mouse chromosome 7 (including genes WEE1 and LMO1)

2001

Human chromosome 11p15.3 is associated with chromosome aberrations in the Beckwith Wiedemann Syndrome and implicated in the pathogenesis of different tumor types including lung cancer and leukemias. To date, only single tumor-relevant genes with linkage to this region (e.g. LMO1) have been found suggesting that this region may harbor additional potential disease associated genes. Although this genomic area has been studied for years, the exact order of genes/chromosome markers between D11S572 and the WEE1 gene locus remained unclear. Using the FISH technique and PAC clones of the flanking markers we determined the order of the genomic markers. Based on these clones we established a PAC cont…

A single nucleotide deletion at the C1 inhibitor gene as the cause of hereditary angioedema: insights from a Brazilian family

2011

To cite this article: Ferraro MF, Moreno AS, Castelli EC, Donadi EA, Palma MS, Arcuri HA, Lange AP, Bork K, Sarti W, Arruda LK. A single nucleotide deletion at the C1 inhibitor gene as the cause of hereditary angioedema: insights from a Brazilian family.Allergy 2011; 66: 1384–1390. Abstract Background:  Hereditary angioedema is an autosomal dominant disease characterized by episodes of subcutaneous and submucosal edema. It is caused by deficiency of the C1 inhibitor protein, leading to elevated levels of bradykinin. More than 200 mutations in C1 inhibitor gene have been reported. The aim of this study was to analyze clinical features of a large family with an index case of hereditary angioe…

New Mutations of C1 inhibitor (SERPING1/C1NH) Gene Associated with Hereditary Angioedema in a European Population

2007

Hereditary Angioedema: a New Mutation of the C1 Inhibitor Gene in a Brazilian Family

2008

Characterization of a partial exon 9/intron 9 deletion in the coagulation factor XII gene (F12) detected in two Turkish families with hereditary angi…

2014

Novel SERPING1 mutation causing Hereditary Angioedema in a Brazilian family

2009

Secondary impairment of pancreatic function as a cause of severe malabsorption in intestinal giardiasis: A case report

1997

We report the case of a 54-year-old male patient hospitalized for diarrhea and weight loss (8 kg over the previous three months). At admission, we observed pale oral and conjunctival mucosa and peripheral edema of the lower limbs. Stool frequency was 8-10 per day. Laboratory data were as follows: hemoglobin, 11 g/dL; total proteins, 4.3 g/dL; albumin, 2 g/dL; pseudocholinesterase, 1248 U/L; triglycerides, 54 mg/dL; serum cholesterol, 102 mg/dL; calcium, 7.9 mg/dL. Fecal fat was 8.2 g/24 hr. Fecal chymotrypsin (FCT) was 2.3 U/g. A duodenal probe was performed after administration of intravenous secretin and cerulein stimulation, and a contemporaneous mucosal biopsy was taken at the ligament …

Postoperative Repositioning of Inverted Descemet Membrane Endothelial Keratoplasty Grafts

2019

Item does not contain fulltext PURPOSE: To present 4 cases of postoperative repositioning of inverted grafts after Descemet membrane endothelial keratoplasty (DMEK). METHODS: Retrospective case reports of 4 patients presenting with subtotal to total graft detachment after DMEK, most probably owing to upside-down graft positioning. Graft repositioning was performed 1 to 14 days after initial DMEK surgery. In 3 cases (cases 1, 3, and 4), repositioning was performed without removing the graft from the anterior chamber (AC), whereas for case 2, the graft had to be removed from the AC to attain correct graft orientation. RESULTS: In all 4 cases, the initially upside-down DMEK grafts could be suc…

Das neurogene Lungenödem

1997

Das Neurogene Lungenodem (NLE) ist eine seltene, aber immer lebensbedrohliche Komplikation bei Patienten mit ZNS-Lasionen. Ein NLE mus immer dann angenommen werden, wenn sich nach einer Schadigung des zentralen Nervensystems akut ein pulmonales Odem entwickelt und andere Ursachen fur die pulmonalen Veranderungen, wie z.B. Aspiration, primar myokardiales Versagen oder toxische Einwirkungen ausgeschlossen werden konnen. Die verschiedenen Atiologien haben alle ein gemeinsames Charakteristikum: es handelt sich um akute Erkrankungen, die plotzlich zu erhohtem intrazerebralem Druck (ICP) fuhren. Beschrieben ist das NLE bei Patienten mit Schadel-Hirn-Verletzungen, intrakraniellen Blutungen, Hirnin…

Postmortale Ver�nderungen am Gehirn

1963

1. Den Ergebnissen einer Grundversuchsreihe an nicht vorgeschadigten Ratten uber postmortale und artefizielle Zell- und Gewebeveranderungen wurden die Befunde bei mit Histamin, Adrenalin vorbehandelten Tieren sowie denen nach Erstickungstod und dem Tod nach Hirntrauma erhobenen Befunde gegenubergestellt. 2. Die Auffassungen uber einen sich nach dem Tod vollziehenden dreiphasigen Strukturwandel und bezuglich der Bedeutung der beim Todeseintritt bestehenden kolloidalen Struktur fur den Typ der postmortalen Veranderungen wurden durch die erganzenden Untersuchungen bestatigt. 3. Die widerspruchsvoll erscheinenden Befunde der bei der Sektion in Erscheinung tretenden Zustandsbilder der sog. Hirns…