Recessively inherited severe aortic aneurysm caused by mutated EFEMP2

Familial aortic aneurysm (AA) is mostly inherited as an autosomal dominant disorder. However, recessively inherited AA has also been observed but in association with skin manifestations of cutis laxa, which is caused by a mutated EFEMP2 gene. In the present study, we recruited 9 patients, from 4 unrelated consanguineous families, with recessively inherited AA. The index cases, their parents, and siblings underwent clinical evaluation and cardiac imaging. In the affected subjects, the clinical presentation ranged from sweating and cyanosis at 3 months of age to incidental findings in an asymptomatic adult. The echocardiogram revealed a wide spectrum of severity of the AA, with a Z-score varying from 5 to 33. Intrafamilial variability was also evident; 2 unrelated subjects were detected at 17 and 20 years of age through family screening. The skin manifestations of cutis laxa were not found in any patient. In 1 family, genome-wide single-nucleotide polymorphism analysis detected a homozygous block, shared by 2 affected siblings, on chromosome 11 at q13. Sequence analysis of EFEMP2, located on chromosome 11 at q13, identified a novel homozygous mutation (p.E161K) in all 9 affected subjects. In this largest cohort of reported patients with a mutated EFEMP2 gene, we illustrate the phenotypic spectrum of inherited AA due to a novel EFEMP2 mutation. In conclusion, our work suggests that in families with apparently recessively inherited AA, molecular analysis of EFEMP2 gene might be warranted.     

Ultrasound-guided simultaneous irrigation and drainage of facial abscess

The establishment of drainage and the elimination of the origin of infection are essential procedures for successful management of odontogenic infections. Irrigation and aspiration are considered as the 2 main procedures for the treatment of facial space infections; we invented a new method named simultaneous irrigation and aspiration. The simultaneous irrigation and aspiration method is significantly less painful and less invasive compared with the standard surgical incision and drainage. This method was thought to be useful for managing facial infections if proper patient selection is performed.     

Prooxidant-Antioxidant Balance and Antioxidized LDL Antibody Level Values and Cardiac Function in Patients with Coronary Artery Disease

Objectives: We studied the association between the prooxidant-antioxidant balance (PAB), anti-malondialdehyde-modified low-density lipoprotein (oxidized LDL, ox-LDL) IgG antibody and indices of cardiac function (systolic and diastolic function) in patients with coronary artery disease (CAD). Methods: Fifty-five patients with established CAD were selected, and serum levels of anti-ox-LDL IgG and PAB values were measured and compared with 40 matched healthy controls. Systolic and diastolic functions were determined for all patients. Results: PAB values were significantly higher in patients than in controls (p < 0.001), whilst serum anti-ox-LDL concentrations were not statistically different between the 2 groups (p = 0.821). However, after adjustment for high-density lipoprotein cholesterol, the patients had higher anti-ox-LDL levels (p = 0.04). Total PAB values were inversely associated with ejection fraction (r = -0.326, p = 0.031), but this was not the case for anti-ox-LDL in either group (p > 0.05). Conclusion: Serum concentrations of a marker of oxidative stress (PAB values) are inversely associated with cardiac function. PAB is a relatively simple index that could be incorporated into risk assessment in CAD patients. Anti-ox-LDL IgG antibody concentration does not appear to reflect total oxidative stress as assessed by PAB.     

Fatty acid composition of ovule in kutum (Rutilus frisii kutum Komensky, 1901)

Fatty acid composition of ovules (ovulated oocytes) from kutum (Rutilus frisii kutum) was investigated to assess their relationship to gonad biological characteristics, larval size, fertilization, and hatching success. Forty-eight kutum were captured in the wild during the spawning season. Results revealed an inverse relationship between linoleic acid (18:2n-6) and ovule weight (P?<?0.05). Arachidonic acid (20:4n-6) and eicosapentaenoic acid (20:5n-3) contents showed a direct correlation with the number of ovules per gram (P?<?0.05); the latter had an inverse relationship with the ratio of surface to volume (P?<?0.01). There was a direct and significant correlation between docosahexaenoic acid (22:6n-3) and ovule weight (P?<?0.05). High unsaturated fatty acid levels indicated a direct relationship with egg and yolk diameters and also an inverse correlation with ovule surface to volume ratio (P?<?0.l05). Direct relationships were found between polyunsaturated fatty acids and the diameter of egg and yolk as well as the ratio of surface to volume (P?<?0.05). There was a direct correlation between saturated fatty acid content and the number of eggs (per gram) (P?<?0.01). Total lipid and weight of newly hatched larvae represented a direct relationship (P?<?0.05). Despite living in brackish water and migrating to fresh water during the reproductive season, kutum exhibited greater similarity in ovule fatty acid composition to saltwater fish than species in fresh water. Moreover, with respect to biological characteristics, this species shows more significant relationships with n-3 fatty acids than with n-6 fatty acids.     

Predictors of a variceal source among patients presenting with upper gastrointestinal bleeding

BACKGROUND:

Patients with upper gastrointestinal bleeding (UGIB) require an early, tailored approach best guided by knowledge of the bleeding lesion, especially a variceal versus a nonvariceal source.

OBJECTIVE:

To identify, by investigating a large national registry, variables that would be predictive of a variceal origin of UGIB using clinical parameters before endoscopic evaluation.

METHODS:

A retrospective study was conducted in 21 Canadian hospitals during the period from January 2004 until the end of May 2005. Consecutive charts for hospitalized patients with a primary or secondary discharge diagnosis of UGIB were reviewed. Data regarding demographics, including historical, physical examination, initial laboratory investigations, endoscopic and pharmacological therapies administered, as well as clinical outcomes, were collected. Multivariable logistic regression modelling was performed to identify clinical predictors of a variceal source of bleeding.

RESULTS:

The patient population included 2020 patients (mean [± SD] age 66.3±16.4 years; 38.4% female). Overall, 215 (10.6%) were found to be bleeding from upper gastrointestinal varices. Among 26 patient characteristics, variables predicting a variceal source of bleeding included history of liver disease (OR 6.36 [95% CI 3.59 to 11.3]), excessive alcohol use (OR 2.28 [95% CI 1.37 to 3.77]), hematemesis (OR 2.65 [95% CI 1.61 to 4.36]), hematochezia (OR 3.02 [95% CI 1.46 to 6.22]) and stigmata of chronic liver disease (OR 2.49 [95% CI 1.46 to 4.25]). Patients treated with antithrombotic therapy were more likely to experience other causes of hemorrhage (OR 0.44 [95% CI 0.35 to 0.78]).

CONCLUSION:

Presenting historical and physical examination data, and initial laboratory tests carry significant predictive ability in discriminating variceal versus nonvariceal sources of bleeding.     

Genetic mapping of habitual substance use, obesity-related traits, responses to mental and physical stress, and heart rate and blood pressure measurements reveals shared genes that are overrepresented in the neural synapse

Links between substance use habits, obesity, stress and the related cardiovascular outcomes can be, in part, because of loci with pleiotropic effects. To investigate this hypothesis, we performed genome-wide mapping in 119 multigenerational families from a population in the Saguenay-Lac-St-Jean region with a known founder effect using 58,000 single-nucleotide polymorphisms and 437 microsatellite markers to identify genetic components of the following factors: habitual alcohol, tobacco and coffee use; response to mental and physical stress; obesity-related traits; and heart rate (HR) and blood pressure (BP) measures. Habitual alcohol and/or tobacco users had attenuated HR responses to mental stress compared with non-users, whereas hypertensive individuals had stronger HR and systolic BP responses to mental stress and a higher obesity index than normotensives. Genetic mappings uncovered numerous shared genes among substance use, stress response, obesity and hemodynamic traits, including CAMK4, CNTN4, DLG2, FHIT, GRID2, ITPR2, NOVA1 and PRKCE, forming network of interacting proteins, sharing synaptic function and display higher and patterned expression profiles in brain-related tissues; moreover, pathway analysis of shared genes pointed to long-term potentiation. Subgroup genetic mappings uncovered additional shared synaptic genes, including CAMK4, CNTN5 and DNM3 (hypertension-specific); CNTN4, DNM3, FHIT and ITPR1 (sex-specific), having protein interactions with genes driven from general analysis. In summary, consistent with the observed phenotypic correlations, we found substantial overlap among genomic determinants of these traits in synapse, which supports the notion that the neural synapse may be a shared interface behind substance use, stress, obesity, HR, BP as well as the observed sex- and hypertension-specific genetic differences.