Análise das mutações C288Y, S65C e H63D e frequência alélica do gene HFE em pacientes com hiperferritinemia, em uma cidade do Nordeste, Brasil

Background & Aims: HFE-associated Hereditary Hemochromatosis (HH) is one of the most frequent autosomal recessive disease in the caucasian population, caused by the high absorption and deposition of iron in several organs. This accumulation results in several clinical complications such as cirrhosis, arthritis, cardiopathies, diabetes, sexual disorders and skin darkening. Although most of the cases are homozygous individuals for the C282Y mutation, another two mutations, H63D and S65C, have been reported to be associated with milder forms of the disease. The objective is to avaluate the distribution of C282Y, H63D and S65C mutations in the HFE gene in patients with suspected HH in the state of Rio Grande do Norte, Brazil. Methods: Samples of peripheral blood were taken from 335 patients originating from Natal-RN, a city in northeastern Brazil with suspected of HH and which were screened for the HFE gene C282Y, H63D and S65C mutations, using molecular genetics assays (Polymerase Chain Reaction- Restriction Fragments Length Polymorphism). The main criterion for including such patients in the study was the increasing of persistent serum ferritin in individuals aged between 18 and 70 or older, both males and females. As to the exclusion criteria, individuals holding hemolytical anemia, talassemy and previously report of blood transfusion did not take part of the study. Results: Out of the 335 patients studied, 143 patients showed absence of mutation and 195 showed some kind of mutation in the HFE gene: 07/335 (2,08%) were homozigous C282Y, 25/335 heterozygous C282Y, 25/335 (7,46%) were homozigous H63D, 115/335 (34,32%) heterozygous H63D, 5/335 (1,48%) heterozygous S65D, 11/ 335 (3,28%) and were double heterozygous (H63D/C282Y). None patients were Homozygous S65D and S65D heterozygous (S65D/H63D and S65D/C282Y). Conclusions. The distribution of the HFE gene C282Y, H63D and S65C mutations found in our group matches the tendencies observed in other European countries. Due to the high prevalence of hemochromatosis, its seriousness and easy treatment, the genetic diagnosis of HH has become a dream, especially in the high risk group.

Demographics and discharge outcomes of dysvascular and non-vascular lower limb amputees at a subacute rehabilitation unit: A 7-year series

Objective To examine personal and social demographics, and rehabilitation discharge outcomes of dysvascular and non-vascular lower limb amputees. Methods In total, 425 lower limb amputation inpatient rehabilitation admissions (335 individuals) from 2005 to 2011 were examined. Admission and discharge descriptive statistics (frequency, percentages) were calculated and compared by aetiology. Results Participants were male (74%), aged 65 years (s.d. 14), born in Australia (72%), had predominantly dysvascular aetiology (80%) and a median length of stay 48 days (interquartile range (IQR): 25–76). Following amputation, 56% received prostheses for mobility, 21% (n = 89) changed residence and 28% (n = 116) required community services. Dysvascular amputees were older (mean 67 years, s.d. 12 vs 54 years, s.d. 16; P < 0.001) and recorded lower functional independence measure – motor scores at admission (z = 3.61, P < 0.001) and discharge (z = 4.52, P < 0.001). More nonvascular amputees worked before amputation (43% vs 11%; P < 0.001), were prescribed a prosthesis by discharge (73% vs 52%; P < 0.001) and had a shorter length of stay (7 days, 95% confidence interval: –3 to 17), although this was not statistically significant. Conclusions Differences exist in social and demographic outcomes between dysvascular and non-vascular lower limb amputees.

Study of energy transfer in KMgF3 : Eu-X (X = Gd, Cr, Ce) by the decay model of P-6(7/2) exited state of Eu2+

Energy transfer processes between Eu2+ and Gd3+, Cr3+, Ce3+ ions in KMgF3, which are difficult to study spectroscopically, have been investigated by using the proposed four-level decay model of the P-6(7/2) excited state of the Eu2+ ion. Gd3+ and Ce3+ transfer its energy to the vibronic transition of the P-6(7/2) --> S-8(7/2) transition of Eu2+, whereas Cr3+ receive energy from Eu2+ via the d-d interaction. The energy transfer from the Eu2+ 4f(6)5d level to the Ce3+ 4f5d state is observed spectroscopically, and the energy transfer mechanism is discussed. (C) 2001 Elsevier Science B.V. All rights reserved.

On the relativistic iron line and soft excess in the Seyfert 1 galaxy Markarian 335

We report a 133-ks XMM-Newton observation of the Seyfert 1 galaxy Markarian 335. The 0.4-12 keV spectrum contains an underlying power-law continuum, a soft excess below 2 keV, and a double-peaked iron emission feature in the 6-7 keV range. We investigate the possibility that the double-peaked emission might represent the characteristic signature of the accretion disc. Detailed investigations show that a moderately broad accretion disc line is most likely present, but that the peaks may be due to narrower components from more distant material. The peaks at 6.4 and 7 keV can be identified, respectively, with the molecular torus in active galactic nucleus unification schemes, and very highly ionized, optically thin gas filling the torus. The X-ray variability spectra on both long (~100 ks) and short (~1 ks) time-scales do not support the recent suggestion that the soft excess is an artefact of variable, moderately ionized absorption. © 2007 The Authors. Journal compilation © 2007 RAS.

Immunolocalization of aquaporins 1, 2 and 7 in rete testis, efferent ducts, epididymis and vas deferens of adult dog

The transepithelial movement of water into the male reproductive tract is an essential process for normal male fertility. Protein water channels, referred to as aquaporins (AQPs), are involved in increasing the osmotic permeability of membranes. This study has examined the expression of AQP1, AQP2, and AQP7 in epithelial cells in adult dog efferent ducts, epididymis, and vas deferens. Samples of dog male reproductive tract comprising fragments of the testis, initial segment, caput, corpus and cauda epididymidis, and vas deferens were investigated by immunohistochemistry and Western blotting procedures to show the localization and distribution of the AQPs. AQP1 was noted in rete testis, in efferent ducts, and in vessels in the intertubular space, suggesting that AQP1 participated in the absorption of the large amount of testicular fluid occurring characteristically in the efferent ducts. AQP2 expression was found in the rete testis, efferent ducts and epididymis, whereas AQP7 was expressed in the epithelium of the proximal regions of the epididymis and in the vas deferens. This is the first time that AQP2 and AQP7 have been observed in these regions of mammalian excurrent ducts, but their functional role in the dog male reproductive tract remains unknown. Investigations of AQP biology could be relevant for clinical studies of the male reproductive tract and to technologies for assisted procreation.

Growth of calcium phosphate coating on Ti-7.5Mo alloy after anodic oxidation

Titanium and its alloys are widely used as biomaterials due to their mechanical, chemical and biological properties. To enhance the biocompatibility of titanium alloys, various surface treatments have been proposed. In particular, the formation of titanium oxide nanotubes layers has been extensively examined. Among the various materials for implants, calcium phosphates and hydroxyapatite are widely used clinically. In this work, titanium nanotubes were fabricated on the surface of Ti-7.5Mo alloy by anodization. The samples were anodized for 20 V in an electrolyte containing glycerol in combination with ammonium fluoride (NH4F, 0.25%), and the anodization time was 24 h. After being anodized, specimens were heat treated at 450 °C and 600°C for 1 h to crystallize the amorphous TiO2 nanotubes and then treated with NaOH solution to make them bioactive, to induce growth of calcium phosphate in a simulated body fluid. Surface morphology and coating chemistry were obtained respectively using, field-emission scanning electron microscopy (FEG-SEM), AFM and X-ray diffraction (XRD). It was shown that the presence of titanium nanotubes induces the growth of a sodium titanate nanolayer. During the subsequent invitro immersion in a simulated body fluid, the sodium titanate nanolayer induced the nucleation and growth of nano-dimensioned calcium phosphate. It was possible to observe the formation of TiO2 nanotubes on the surface of Ti-7.5Mo. Calcium phosphate coating was greater in the samples with larger nanotube diameter. These findings represent a simple surface treatment for Ti-7.5Mo alloy that has high potential for biomedical applications. © (2013) Trans Tech Publications, Switzerland.

Kommentierung Art. 335 - 352 ZPO (Vollstreckung)

Der Kurzkommentar zur ZPO erlaubt in handlicher Form einen schnellen Zugriff auf das schweizerische Zivilverfahrensrecht. In knapper und übersichtlicher Darstellung werden die wesentlichen Fragestellungen analysiert und die wichtigsten Argumente und Gegenargumente zu umstrittenen Punkten für die Praxis verfügbar gemacht. Zur Neuauflage Für die 2. Auflage wurde der Kommentar umfassend aktualisiert und überarbei- tet. Die Nutzerinnen und Nutzer erhalten damit ein kompaktes Arbeitsmittel auf dem Stand Frühjahr 2013. Berücksichtigt werden insbesondere: − das neue Erwachsenenschutzrecht − die am 1.5.2013 in Kraft getretenen neuen Protokollierungsvorschriften für die Zeugeneinvernahme − die inzwischen schon zahlreichen Weichenstellungen in der Rechtsprechung zur schweizerischen Zivilprozessordnung − die seit 2011 erschienene praxisrelevante neue Literatur (inkl. Neuauflage des BSK ZPO

Erleichterte hebräische Grammatica, oder richtige Anführung zur hebräischen Sprache, auf Begehren, und um mehrern Nutzens willen ... zum 7. mahl nebst einer tabula synoptica und dreyfachem Reg....

hrsg. von Ioh. Heinr. Michaelis