Congenital upper limb defects in Finland 1993-2005

Background: Interest in limb defects has grown after the thalidomide tragedy in the 1960s. As a result, congenital malformation registries, monitoring changes in birthprevalence and defect patterns, have been established in several countries. However, there are only a few true population based studies on birth prevalence of upper limb defects. The burden of hospital care among these children, specifically in terms of the number of admissions and total time spent in hospital, is also unknown. Aims and Methods: This study is based on information gathered from the Finnish Register of Congenital malformations (FRM) and the Finnish Hospital Discharge Register (FHDR). A total of 417 children born between 1993 and 2005 with an upper limb defect were gathered from the FRM. The upper limb defects were classified using the International Federation of Societies for Surgery of the Hand -classification that enables comparison with previous and future studies. Birth and live birth prevalence, sex and side distribution, frequency of associated anomalies as well as the proportion of perinatal and infant deaths according to the different subtypes were calculated. The number of hospital admissions, days spent in hospital, number and type of surgical operations were collected from the FHDR. Special features of two subgroups, radial ray defects (RRD) and constriction band syndrome (CBS), were explored. Results: Upper limb defects were observed in 417 of 753 342 consecutive births and in 392 of 750 461 live births. Birth prevalence was 5.5 per 10 000 births and 5.2 per 10 000 live births. Multiple anomalies or a known syndrome was found in 250 cases (60%). Perinatal mortality was 139 per 1000 births and infant mortality 135 per 1000 live births (overall Finnish perinatal mortality <5 per 1000 births and infant mortality 3.7 per 1000 live births). Altogether, 138 infants had RRD and 120 (87%) of these had either a known syndrome or multiple major anomalies. The proportion of perinatal deaths in RRD group was 29% (40/138) and infant deaths 35% (43/123). Fifty-one children had CBS in upper limbs. Fifteen of these (29%) had other major anomalies associated with constriction rings. The number of hospital admissions per year of children with congenital upper limb defects was 11-fold and the time spent in hospital 13-fold as compared with the general paediatric population. Conclusions: Birth prevalence of congenital upper limb defects was 5.5 per 10 000 births and 5.2 per 10 000 live births. RRD was especially associated with other major anomalies and high mortality. Nearly one third of the children with CBS also had other major anomalies suggesting different aetiologies inside the group. The annual burden of hospital care of children with congenital upper limb defects was at least 11-fold as compared with the general paediatric population.

Hyperfine interactions in the new Fe-based superconducting structures and related magnetic phases

This thesis is devoted to the study of the hyperfine properties in iron-based superconductors and the synthesis of these compounds and related phases. During this work polycrystalline chalcogenide samples with stoichiometry 1:1 (FeTe1-χSχ, FeSe1-x) and pnictide samples with stoichiometry 1:2:2 (BaFe2(As1-χPχ)2, EuFe2(As1-x Px)2) were synthesized by solid-state reaction methods in vacuum and in a protecting Ar atmosphere. In several cases post-annealing in oxygen atmosphere was employed. The purity and superconducting properties of the obtained samples were checked with X-ray diffraction, SQUID and resistivity measurements. For studies of the magnetic properties of the investigated samples Mössbauer spectroscopy was used. Using low-temperature measurements around Tc and various values of the source velocity the hyperfine interactions were obtained and the magnetic and structural properties in the normal and superconducting states could be studied. Mössbauer measurements together with XRD characterization were also used for the detection of impurity phases. DFT calculations were used for the theoretical study of Mössbauer parameters for pnictide-based ᴻsamples BaFe2(As1-xPx)2 and EuFe2(As1-xPx)2.

Experimental context modulates warning signal effects

Previous studies have shown that saccadic eye responses but not manual responses were sensitive to the kind of warning signal used, with visual onsets producing longer saccadic latencies compared to visual offsets. The aim of the present study was to determine the effects of distinct warning signals on manual latencies and to test the premise that the onset interference, in fact, does not occur for manual responses. A second objective was to determine if the magnitude of the warning effects could be modulated by contextual procedures. Three experimental conditions based on the kind of warning signal used (visual onset, visual offset and auditory warning) were run in two different contexts (blocked and non-blocked). Eighteen participants were asked to respond to the imperative stimulus that would occur some milliseconds (0, 250, 500 or 750 ms) after the warning signal. The experiment consisted in three experimental sessions of 240 trials, where all the variables were counterbalanced. The data showed that visual onsets produced longer manual latencies than visual offsets in the non-blocked context (275 vs 261 ms; P < 0.001). This interference was obtained, however, only for short intervals between the warning and the stimulus, and was abolished when the blocked context was used (256 vs 255 ms; P = 0.789). These results are discussed in terms of bottom-up and top-down interactions, mainly those related to the role of attentional processing in canceling out competitive interactions and suppressive influences of a distractor on the relevant stimulus.

A randomized, double-blind, and placebo-controlled study with tranexamic acid of bleeding and fibrinolytic activity after primary coronary artery bypass grafting

Cardiopulmonary bypass is frequently associated with excessive blood loss. Platelet dysfunction is the main cause of non-surgical bleeding after open-heart surgery. We randomized 65 patients in a double-blind fashion to receive tranexamic acid or placebo in order to determine whether antifibrinolytic therapy reduces chest tube drainage. The tranexamic acid group received an intravenous loading dose of 10 mg/kg, before the skin incision, followed by a continuous infusion of 1 mg kg-1 h-1 for 5 h. The placebo group received a bolus of normal saline solution and continuous infusion of normal saline for 5 h. Postoperative bleeding and fibrinolytic activity were assessed. Hematologic data, convulsive seizures, allogeneic transfusion, occurrence of myocardial infarction, mortality, allergic reactions, postoperative renal insufficiency, and reopening rate were also evaluated. The placebo group had a greater postoperative blood loss (median (25th to 75th percentile) 12 h after surgery (540 (350-750) vs 300 (250-455) mL, P = 0.001). The placebo group also had greater blood loss 24 h after surgery (800 (520-1050) vs 500 (415-725) mL, P = 0.008). There was a significant increase in plasma D-dimer levels after coronary artery bypass grafting only in patients of the placebo group, whereas no significant changes were observed in the group treated with tranexamic acid. The D-dimer levels were 1057 (1025-1100) µg/L in the placebo group and 520 (435-837) µg/L in the tranexamic acid group (P = 0.01). We conclude that tranexamic acid effectively reduces postoperative bleeding and fibrinolysis in patients undergoing first-time coronary artery bypass grafting compared to placebo.

13CO2 recovery fraction in expired air of septic patients under mechanical ventilation

The continuous intravenous administration of isotopic bicarbonate (NaH13CO2) has been used for the determination of the retention of the 13CO2 fraction or the 13CO2 recovered in expired air. This determination is important for the calculation of substrate oxidation. The aim of the present study was to evaluate, in critically ill patients with sepsis under mechanical ventilation, the 13CO2 recovery fraction in expired air after continuous intravenous infusion of NaH13CO2 (3.8 µmol/kg diluted in 0.9% saline in ddH2O). A prospective study was conducted on 10 patients with septic shock between the second and fifth day of sepsis evolution (APACHE II, 25.9 ± 7.4). Initially, baseline CO2 was collected and indirect calorimetry was also performed. A primer of 5 mL NaH13CO2 was administered followed by continuous infusion of 5 mL/h for 6 h. Six CO2 production (VCO2) measurements (30 min each) were made with a portable metabolic cart connected to a respirator and hourly samples of expired air were obtained using a 750-mL gas collecting bag attached to the outlet of the respirator. 13CO2 enrichment in expired air was determined with a mass spectrometer. The patients presented a mean value of VCO2 of 182 ± 52 mL/min during the steady-state phase. The mean recovery fraction was 0.68 ± 0.06%, which is less than that reported in the literature (0.82 ± 0.03%). This suggests that the 13CO2 recovery fraction in septic patients following enteral feeding is incomplete, indicating retention of 13CO2 in the organism. The severity of septic shock in terms of the prognostic index APACHE II and the sepsis score was not associated with the 13CO2 recovery fraction in expired air.

Prevalence of the STK15 F31I polymorphism and its relationship with mammographic density

Several studies have identified the single nucleotide polymorphism STK15 F31I as a low-penetrance risk allele for breast cancer, but its prevalence and risk association in the Brazilian population have not been determined. The goal of this study was to identify the frequency of this polymorphism in the Brazilian setting. Considering the high degree of admixture of our population, it is of fundamental importance to validate the results already reported in the literature and also to verify the relationship between this variant and breast cancer risk. A total of 750 women without breast cancer were genotyped using the TaqMan PCR assay for STK15 F31I polymorphism. Clinical information was obtained from review of the medical records and mammographic density from the images obtained using the BI-RADS System. The estimated risk of developing cancer was calculated according to the Gail model. The genotypic frequencies observed in this study were 4.5, 38.7, and 56.6%, respectively, for the STK15 F31I AA, AT and TT genotypes. The AT and AA genotypes were encountered significantly more often in premenopausal women with moderately dense, dense and heterogeneously dense breast tissue (P = 0.023). In addition, the presence of the TT genotype was significantly associated with age at menarche ≥12 years (P = 0.023). High mammographic density, associated with increased breast cancer risk, was encountered more frequently in premenopausal women with the risk genotypes STK15 F31I AA and AT. The genotypic frequencies observed in our Brazilian sample were similar to those described in other predominantly European populations.

Cardiovascular effects of the intracerebroventricular injection of adrenomedullin: roles of the peripheral vasopressin and central cholinergic systems

Our objective was to investigate in conscious Sprague-Dawley (6-8 weeks, 250-300 g) female rats (N = 7 in each group) the effects of intracerebroventricularly (icv) injected adrenomedullin (ADM) on blood pressure and heart rate (HR), and to determine if ADM and calcitonin gene-related peptide (CGRP) receptors, peripheral V1 receptors or the central cholinergic system play roles in these cardiovascular effects. Blood pressure and HR were observed before and for 30 min following drug injections. The following results were obtained: 1) icv ADM (750 ng/10 µL) caused an increase in both blood pressure and HR (DMAP = 11.8 ± 2.3 mmHg and ΔHR = 39.7 ± 4.8 bpm). 2) Pretreatment with a CGRP receptor antagonist (CGRP8-37) and ADM receptor antagonist (ADM22-52) blocked the effect of central ADM on blood pressure and HR. 3) The nicotinic receptor antagonist mecamylamine (25 µg/10 µL, icv) and the muscarinic receptor antagonist atropine (5 µg/10 µL, icv) prevented the stimulating effect of ADM on blood pressure. The effect of ADM on HR was blocked only by atropine (5 µg/10 µL, icv). 4) The V1 receptor antagonist [β-mercapto-β-β-cyclopentamethylenepropionyl¹, O-me-Tyr²,Arg8]-vasopressin (V2255; 10 µg/kg), that was applied intravenously, prevented the effect of ADM on blood pressure and HR. This is the first study reporting the role of specific ADM and CGRP receptors, especially the role of nicotinic and muscarinic central cholinergic receptors and the role of peripheral V1 receptors in the increasing effects of icv ADM on blood pressure and HR.

Prevalence of ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women

Polymorphisms of hormone receptor genes have been linked to modifications in reproductive factors and to an increased risk of breast cancer (BC). In the present study, we have determined the allelic and genotypic frequencies of the ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms and investigated their relationship with mammographic density, body mass index (BMI) and other risk factors for BC. A consecutive and unselected sample of 750 Brazilian BC-unaffected women enrolled in a mammography screening program was recruited. The distribution of PGR PROGINS genotypic frequencies was 72.5, 25.5 and 2.0% for A1A1, A1A2 and A2A2, respectively, which was equivalent to that encountered in other studies with healthy women. The distribution of ERα genotypes was: ERα-397 PvuII C/T: 32.3% TT, 47.5% TC, and 20.2% CC; ERα-351 XbaI A/G: 46.3% AA, 41.7% AG and 12.0% GG. ERα haplotypes were 53.5% PX, 14.3% Px, 0.3% pX, and 32.0% px. These were significantly different from most previously published reports worldwide (P < 0.05). Overall, the PGR PROGINS genotypes A2A2 and A1A2 were associated with fatty and moderately fatty breast tissue. The same genotypes were also associated with a high BMI in postmenopausal women. In addition, the ERα-351 XbaI GG genotype was associated with menarche ≥12 years (P = 0.02). ERα and PGR polymorphisms have a phenotypic effect and may play an important role in BC risk determination. Finally, if confirmed in BC patients, these associations could have important implications for mammographic screening and strategies and may be helpful to identify women at higher risk for the disease.

Nasal CPAP in the delivery room for newborns with extremely low birth weight in a hospital in a developing country

The objective of this study was to determine the feasibility of the use of continuous positive airway pressure installed prophylactically in the delivery room (DR-CPAP), for infants with a birth weight between 500 and 1000 g in settings with limited resources. During 23 months, infants with a birth weight between 500 and 1000 g consecutively received DR-CPAP. A total of 33 infants with low birth weight were enrolled, 16 (48.5%) were females. Only 14 (42.4%) received antenatal corticosteroids and only 2 of those 14 (14.3%) infants weighing 500-750 g were not intubated in the delivery room, and apnea was given as the reason for intubation of these patients. Of the 19 infants in the 751-1000 g weight range, 9 (47.4%) were intubated in the delivery room, 6 due to apnea and 3 due to respiratory discomfort. For DR-CPAP to be successful, it is probably necessary for preterm babies to be more prepared at birth to withstand the respiratory effort without the need for intubation. Antenatal corticosteroids and better prenatal monitoring are fundamental for success of DR-CPAP.

Mathematical modeling of microwave dried celery leaves and determination of the effective moisture diffusivities and activation energy

Celery (Apium graveolens L. var. secalinum Alef) leaves with 50±0.07 g weight and 91.75±0.15% humidity (~11.21 db) were dried using 8 different microwave power densities ranging between 1.8-20 W g-1, until the humidity fell down to 8.95±0.23% (~0.1 db). Microwave drying processes were completed between 5.5 and 77 min depending on the microwave power densities. In this study, measured values were compared with predicted values obtained from twenty thin layer drying theoretical, semi-empirical and empirical equations with a new thin layer drying equation. Within applied microwave power density; models whose coefficient and correlation (R²) values are highest were chosen as the best models. Weibull distribution model gave the most suitable predictions at all power density. At increasing microwave power densities, the effective moisture diffusivity values ranged from 1.595 10-10 to 6.377 10-12 m2 s-1. The activation energy was calculated using an exponential expression based on Arrhenius equation. The linear relationship between the drying rate constant and effective moisture diffusivity gave the best fit.

Relato de Caso - Nefropatia de IgA associada ao ANCA com evolução favorável

ResumoIntrodução:Os anticorpos anticitoplasma de neutrófilos (ANCA) comumente estão relacionados a glomerulonefrites rapidamente progressivas (GnRP) com padrão pauci-imune. Apesar disso, a literatura mostra uma incidência além da esperada de ANCA nas GnRP por imunocomplexos. A nefropatia por imunoglobulina A (NIgA) crescêntica é uma das GnRP que pode se associar ao ANCA.Objetivo:Relatar caso de NigA com sinais clínicos de mau prognóstico associado ao ANCA com evolução favorável após imunossupressão.Método:Foi relatado caso de paciente com 38 anos com quadro de hipertensão arterial (HAS), insuficiência renal (CKD-EPI- 37 ml/min/1,73 m2), proteinúria subnefrótica e hematúria. Nos antecedentes pessoais, relatava epistaxes ocasionais, rinossinusite e episódio de artrite com remissão espontânea. Durante a investigação diagnóstica, foram detectados ANCA positivo 1/160 e anti-PR3, porém, com biópsia renal compatível com NIgA com 38% de crescentes na amostra. Foi realizado diagnóstico de NIgA associada ao ANCA, sendo indicado tratamento imunossupressor por seis meses com corticoterapia (pulsoterapia com metilprednisolona 1 g por 3 dias, seguido de prednisona 1 mg/kg/dia) e ciclofosfamida (500 mg com aumento crescente da dose até 750 mg/m2). Paciente evolui com recuperação da função renal, além da redução da proteinúria e da titulação de ANCA.Conclusão:A importância da identificação dessa sobreposição está no comportamento agressivo dessa doença caracterizada pela presença de crescentes, atrofia tubular e disfunção renal que podem regredir com início precoce da imunossupressão.

Weldability of high strength aluminium alloys

The need for reduced intrinsic weight of structures and vehicles in the transportation industry has made aluminium research of interest. Aluminium has properties that are favourable for structural engineering, including good strength-to-weight ratio, corrosion resistance and machinability. It can be easily recycled saving energy used in smelting as compared to steel. Its alloys can have ultimate tensile strength of up to 750 MPa, which is comparable to steel. Aluminium alloys are generally weldable, however welding of high strength alloys like the 7xxx series pose considerable challenges. This paper presents research on the weldability of high strength aluminium alloys, principally the 7xxx series. The weldability with various weld processes including MIG, TIG, and FSW, is discussed in addition to consideration of joint types, weld defects and recommendations for minimizing or preventing weld defects. Experimental research was carried out on 7025-T6 and AW-7020 alloys. Samples were welded, and weld cross sections utilized in weld metallurgy studies. Mechanical tests were carried out including hardness tests and tensile tests. In addition, testing was done for the presence of Al2O3 on exposed aluminium alloy. It was observed that at constant weld heat input using a pulsed MIG system, the welding speed had little or no effect on the weld hardness. However, the grain size increased as the filler wire feed rate, welding current and welding speed increased. High heat input resulted in lower hardness of the weld profile. Weld preheating was detrimental to AW- 7020 welds; however, artificial aging was beneficial. Acceptable welds were attained with pulsed MIG without the removal of the Al2O3 layer prior to welding. The Al2O3 oxide layer was found to have different compositions in different aluminium alloys. These findings contribute useful additional information to the knowledge base of aluminium welding. The application of the findings of this study in welding will help reduce weld cost and improve high strength aluminium structure productivity by removing the need for pre-weld cleaning. Better understanding of aluminium weld metallurgy equips weld engineers with information for better aluminium weld design.

Efeito do tratamento químico sobre a conservação de sementes de milho durante o armazenamento

O objetivo do trabalho foi estudar o efeito de combinações de inseticidas e de fungicidas sobre a conservação de sementes de milho durante o armazenamento. Os tratamentos aplicados e respectivas doses, para 1000kg de sementes, foram os seguintes: 1) testemunha; 2) anilina (936mL); 3) anilina (936mL) + Thiabendazole (120g) + Dicarboximida (187,5g) + Pirimifos- methyl (6,25mL) + Deltamethrin (0,75mL); 4) anilina (936mL) + Thiabendazole (240g) + Dicarboximida (375,0g) + Pirimifos- methyl (12,50mL) + Deltamethrin (1,50mL); 5) anilina (936mL) + Thiabendazole (480g) + Dicarboximida (750,0g)+ Pirimifos- methyl (25,00mL) + Deltamethrin (3,00mL); 6) anilina (936mL) + Thiabendazole (960g) + Dicarboximida (1500,0g) + Pirimifos- methyl (50,00mL) + Deltamethrin (6,00mL). As sementes foram analisadas quanto ao teor de água, germinação e vigor (testes de envelhecimento acelerado e de frio com solo) aos 0, 6, 9 e 12 meses de armazenamento. Os dados obtidos permitiram concluir que os tratamentos químicos aplicados tendem, com o aumento das dosagens, a gerar efeitos latentes, desfavoráveis ao desempenho das sementes, intensificados com o prolongamento do período de armazenamento.

Danos mecânicos e qualidade fisiológica de semente de soja colhida pelo sistema convencional e axial

Neste trabalho, objetivou-se avaliar dois tipos de colhedoras, a de sistema convencional ou de cilindro côncavo e a axial, quanto à qualidade fisiológica de sementes de duas cultivares de soja (Glycine max (L.)Merrill), colhidas em três períodos diferentes do dia. A colhedora de cilindro côncavo trabalhou, deslocando-se a 5,0km.h-1 e cilindro trilhador com 750 rotações por minuto (rpm). A colhedora de fluxo axial deslocou-se a 8,0km.h-1 e rotor com 650 rotações por minuto (rpm). As cultivares de soja utilizadas foram BRS 184 e BRS 133. Para a avaliação da qualidade de sementes foram conduzidos os testes de germinação, vigor, tetrazólio, danos mecânicos e a determinação do grau de umidade. Sementes provenientes de ambas as colhedoras apresentaram resultados estatisticamente similares em relação a danos mecânicos e qualidade fisiológica. Há variações no grau de umidade da semente de soja durante o dia, podendo, ao final da tarde (18 horas), apresentar-se inferior ao início da colheita (10 horas), em até 3 pontos percentuais. Tanto a colhedora de cilindro côncavo como a axial, desde que convenientemente utilizadas na colheita quanto às especificações de regulagem, não provocam diferenças na qualidade fisiológica da semente de soja.

Prosessiteollisuuden sekoittimen elinkaariarviointi

Työn tavoitteena oli tehdä elinkaariarviointi (LCA) prosessiteollisuuden sekoittimelle Helmix HF-80 ja analysoida LCA-tulokset, vaikutus ilmaston lämpenemisen potentiaalin (GWP) suhteen, sekä tutkia GWP-vaikutuksen pienentämisen mahdollisuuksia. Tutkittavan sekoittimen mahdolliset käyttökohteet ovat sellu- ja paperiteollisuus, raskaiden jätenesteiden käsittely, sekä muut teollisuusalueet, joissa käytetään tämän tyyppisiä laitteita. Työssä on muun muassa käsitelty sekoitusprosessit, sekoituslaitteiden tyypit, niiden rakenteiden ominaisuudet, käyttötarkoitus, toimintaperiaatteet, sekä sellu- ja paperi-teollisuudessa käytettävien sekoittimien yleiskatsaus. Työssä on myös kuvattu elinkaariarviointi (LCA) -menetelmä ja sen käyttötarkoitus. Tärkeimmistä tuloksista voi mainita sen, että sekoittimen (ilman säiliötä, sähkömoottoria ja vaihteistoa) kokoelinkaaren ilmastonlämpenemisen potentiaali (GWP) on noin 750 000 kg CO2-Equiv. Sekoittimen tuotanto- ja kierrätysaikana syntyy vain 1200 kg CO2-Equiv. ja suurin osa 748 000 kg CO2-Equiv. johtuu sähköenergian kulutuksesta käytön aikana. Käyttöajan vaikutusta voisi pienentää arvoksi 0 kg CO2-Equiv. käyttämällä pelkästään uusiutuvaa energiaa. Jos tuotantoaikana käytetty energia myös korvataan uusiutuvalla energialla, niin GWP-arvo koko elinkaaren aikana laskee arvoon 1006 kg CO2eqv., mikä on vain 0,13 % saaduista tuloksista. Suurin osa tästä arvosta liittyy sekoittimen materiaalin, tässä tapauksessa ruostumattoman teräksen tuotantoon.