Search results for "Genetics"
showing 10 items of 12494 documents
Hereditary angioneurotic oedema and blood-coagulation: interaction between C1-esterase-inhibitor and the activation factors of the proteolytic enzyme…
1983
C-1-inactivator (C-1-INA) does not only exert its important inhibitory functions in the complement system but also in the first step in the activation of the coagulation, fibrinolytic and kallikrein system. We therefore determined in nine patients with hereditary angioneurotic oedema (HANE) with obvious quantitative or functional defects of C-1-INA, and one further patient with Quincke-type oedema of different origin, the coagulation factors of the initial phase such as Hageman factor, plasma thromboplastin antecedent (PTA) and high molecular weight kininogen (HMWK). These factors were further correlated with the concentration as well as functional activity of C-1-INA. Nine of ten patients …
FRI0299 Prevalence of Vertebral Fractures in Osteoporotic HIP Fractured Patients: The Focus Study
2015
Background Osteoporosis is a multifactorial systemic skeletal disease, characterized by low bone mass and microarchitectural modifications of bone tissue, with a consequent increase in fragility fractures [1]. Vertebral fractures are the most prevalent osteoporotic fractures and osteoporotic hip fractures are the most serious complication of osteoporosis resulting in increased mortality and high socio-economic cost [2,3]. The coexistence of these two pathological conditions in elderly patients has been previously described, leading to even worse functional outcomes than each one alone [4]. Objectives To determine the prevalence of vertebral fractures in osteoporotic hip fractured women and …
Effects of Middle-Term Treatment with Nifedipine on Hemodynamic Parameters and on Left Ventricular Function in Hypertensive Patients
1988
The effect of oral hormone replacement therapy on lipoprotein profile, resistance of LDL to oxidation and LDL particle size
2001
Abstract Objectives: To disclose if oral estradiol (E 2 ), alone or in combination with natural progesterone (P) or medroxyprogesterone acetate (MPA), may modify the oxidizability of low density lipoprotein (LDL), and if the effect is achieved at physiological dosages. LDL oxidizability was assessed by the resistance to oxidation by copper and by the particle size profile, since small particles have increased oxidation susceptibility. Methods: Thirty-three women received two consecutive, two-month length doses of 1 and 2 mg/day of oral E 2 . They were then randomly assigned to a fourteen-day treatment of 2 mg/day E 2 plus either 300 mg/day P or 5 mg/day MPA. A parallel group of experiments …
Bile Duct Warmer in Hepatic Cryosurgery—A Pig Liver Model
1998
Freezing of the common bile duct resulted in injury, stenosis, or perforation of the bile duct in a dog model. Biliary cutaneous fistulas and bile leaks are reported as complications of hepatic cryosurgery in man. In an ex vivo pig liver model we compared freezing close to the bile duct with and without warming the bile duct with warmed saline solution via an inserted catheter ("bile duct warmer"). The recorded temperatures at the outer wall of the bile duct were -50 degrees C after 10 min of freezing without and 5. 8 degrees C with the use of the warmer (P0.001, two-way ANOVA). The bile duct warmer system may be a simple and inexpensive device in reducing perioperative morbidity after hepa…
<i>PCSK9</i> rs11591147 R46L Loss-of-Function Variant Protects Against Liver Damage in Individuals with NAFLD
2020
Background and Aims: The proprotein convertase subtilisin/kexin type 9 (PCSK9) plays a key role in cholesterol homeostasis, and its inhibition represents an effective therapy to lower LDL-C levels. In this study, we examined the impact of PCSK9 rs11591147 loss-of-function (LOF) variant on liver damage in a multicenter collection of patients at risk of nonalcoholic steatohepatitis (NASH), in clinical samples and experimental models. Methods: We considered 1,874 consecutive individuals at risk of NASH as determined by histology. The SNP rs11591147, encoding for the p.R46L variant of PCSK9, was genotyped by TaqMan assays. We also evaluated 1) PCSK9 mRNA hepatic expression in human liver, and 2…
Comment: Why are females with Fabry disease affected?
2019
Acute methionine load‐induced hyperhomocysteinemia enhances platelet aggregation, thromboxane biosynthesis, and macrophage‐derived tissue factor acti…
1997
A moderate elevation of plasma homocysteine is a risk factor for atherosclerosis and arterial and veinous thrombosis. However, the mechanisms leading to vascular disorders are poorly understood because studies that have investigated the potential atherothrombogenicity of hyperhomocysteinemia in vivo are scarce. Using a rat model, we were the first to show that dietary folic acid deficiency, a major cause of basal hyperhomocysteinemia, is associated with enhanced macrophage-derived tissue factor and platelet activities. We proposed that an homocysteine-induced oxidative stress may account for this hypercoagulable state. To determine the true thrombogenicity of moderate hyperhomocysteinemia a…
Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder.
2009
We report on a 7-year-old girl with unequivocal features of Barber-Say syndrome (BSS): generalized hypertrichosis especially at the back, dry lax skin, macrostomia, thin lips, cup-shaped ears, bulbous nose, hypoplastic nipples, and abnormal external genitalia. She also demonstrated conductive hearing impairment and microblepharon. BSS has been reported with ectropion (not present in our patient), but ablepharon and microblepharon (i.e., absent or hypoplastic eyelids) have always been considered as hallmarks of ablepharon macrostomia syndrome (AMS). This is the first report of microblepharon in BSS. Other authors have discussed that BSS and AMS could possibly represent one syndrome, and our …