Cecum perforation in intestinal malrotation setting in a patient with chromosome 12p deletion syndrome: A case report.

INTRODUCTION: Intestinal malrotation results from failure of the normal gut rotation during embryological development. It is usually diagnosed in early childhood when it becomes symptomatic. Aetiology of intestinal malrotation has been scarcely addressed although relevant roles have been attributed to a few genes involved in gastrointestinal formation and association with certain syndromes has been suggested. PRESENTATION OF CASE: We describe the case of a 23-year-old woman with 12p deletion syndrome who presented with clinical symptoms of occlusion to the emergency department. Analytically, an elevation of inflammatory parameters was confirmed and imaging revealed pneumoperitoneum originated on cecum perforation. The patient was submitted to surgery with favorable evolution. DISCUSSION: Clinical manifestation of intestinal malrotation is uncommon in the adult population but can have severe consequences if not diagnosed early. The abnormal positioning of the duodenojejunal loop compressed by Ladd's bands, can lead to obstruction and ischemia. Surgery via Ladd's procedure commonly applies and elective treatment may prevent added morbidity. Intestinal malrotation has been associated to certain syndromes but no prior association to chromosome 12p deletion has been described. Occlusion in a patient with 12p chromosome deletion should raise prompt suspicion for intestinal malrotation. Moreover, diagnosis of 12p chromosome deletion should increase attention towards gastrointestinal changes since elective surgery may diminish morbidity. CONCLUSION: Intestinal malrotation results from abnormal embryological rotation of the midgut and is associated with certain syndromes. This paper firstly associates intestinal malrotation to chromosome 12p deletion. The possibility to address it electively may prevent morbidity in patients with this syndrome.

Effect of Akt activation and experimental pharmacological inhibition on responses to neoadjuvant chemoradiotherapy in rectal cancer.

BACKGROUND: Neoadjuvant chemoradiotherapy (CRT) is one of the preferred initial treatment strategies for locally advanced rectal cancer. Responses are variable, and most patients still require surgery. The aim of this study was to identify molecular mechanisms determining poor response to CRT. METHODS: Global gene expression and pathway enrichment were assessed in pretreatment biopsies from patients with non-metastatic cT2-4 N0-2 rectal cancer within 7 cm of the anal verge. Downstream Akt activation was assessed in an independent set of pretreatment biopsies and in colorectal cancer cell lines using immunohistochemistry and western blot respectively. The radiosensitizing effects of the Akt inhibitor MK2206 were assessed using clonogenic assays and xenografts in immunodeficient mice. RESULTS: A total of 350 differentially expressed genes were identified, of which 123 were upregulated and 199 downregulated in tumours from poor responders. Mitochondrial oxidative phosphorylation (P < 0·001) and phosphatidylinositol signalling pathways (P < 0·050) were identified as significantly enriched pathways among the set of differentially expressed genes. Deregulation of both pathways is known to result in Akt activation, and high immunoexpression of phosphorylated Akt S473 was observed among patients with a poor histological response (tumour regression grade 0-2) to CRT (75 per cent versus 48 per cent in those with a good or complete response; P = 0·016). Akt activation was also confirmed in the radioresistant cell line SW480, and a 50 per cent improvement in sensitivity to CRT was observed in vitro and in vivo when SW480 cells were exposed to the Akt inhibitor MK2206 in combination with radiation and 5-fluorouracil. CONCLUSION: Akt activation is a key event in the response to CRT. Pharmacological inhibition of Akt activation may enhance the effects of CRT. Surgical relevance Organ preservation is an attractive alternative in rectal cancer management following neoadjuvant chemoradiotherapy (CRT) to avoid the morbidity of radical surgery. Molecular steps associated with tumour response to CRT may provide a useful tool for the identification of patients who are candidates for no immediate surgery. In this study, tumours resistant to CRT were more likely to have activation of specific genetic pathways that result in phosphorylated Akt (pAkt) activation. Pretreatment biopsy tissues with high immunoexpression of pAkt were more likely to exhibit a poor histological response to CRT. In addition, the introduction of a pAkt inhibitor to cancer cell lines in vitro and in vivo led to a significant improvement in sensitivity to CRT. Identification of pAkt-activated tumours may thus allow the identification of poor responders to CRT. In addition, the concomitant use of pAkt inhibitors to increase sensitivity to CRT in patients with rectal cancer may constitute an interesting strategy for increasing the chance of a complete response to treatment and organ preservation.

A White Paper on Global Wheat Health Based on Scenario Development and Analysis.

Scenario analysis constitutes a useful approach to synthesize knowledge and derive hypotheses in the case of complex systems that are documented with mainly qualitative or very diverse information. In this article, a framework for scenario analysis is designed and then, applied to global wheat health within a timeframe from today to 2050. Scenario analysis entails the choice of settings, the definition of scenarios of change, and the analysis of outcomes of these scenarios in the chosen settings. Three idealized agrosystems, representing a large fraction of the global diversity of wheat-based agrosystems, are considered, which represent the settings of the analysis. Several components of global changes are considered in their consequences on global wheat health: climate change and climate variability, nitrogen fertilizer use, tillage, crop rotation, pesticide use, and the deployment of host plant resistances. Each idealized agrosystem is associated with a scenario of change that considers first, a production situation and its dynamics, and second, the impacts of the evolving production situation on the evolution of crop health. Crop health is represented by six functional groups of wheat pathogens: the pathogens associated with Fusarium head blight; biotrophic fungi, Septoria-like fungi, necrotrophic fungi, soilborne pathogens, and insect-transmitted viruses. The analysis of scenario outcomes is conducted along a risk-analytical pattern, which involves risk probabilities represented by categorized probability levels of disease epidemics, and risk magnitudes represented by categorized levels of crop losses resulting from these levels of epidemics within each production situation. The results from this scenario analysis suggest an overall increase of risk probabilities and magnitudes in the three idealized agrosystems. Changes in risk probability or magnitude however vary with the agrosystem and the functional groups of pathogens. We discuss the effects of global changes on the six functional groups, in terms of their epidemiology and of the crop losses they cause. Scenario analysis enables qualitative analysis of complex systems, such as plant pathosystems that are evolving in response to global changes, including climate change and technology shifts. It also provides a useful framework for quantitative simulation modeling analysis for plant disease epidemiology.

Innate immune response, intestinal morphology and microbiota changes in Senegalese sole fed plant protein diets with probiotics or autolysed yeast.

The effects of using plant ingredients in Senegalese sole (Solea senegalensis) diet on immune competence and intestine morphology and microbial ecology are still controversial. Probiotics or immunostimulants can potentially alter the intestinal microbiota in a way that protects fish against pathogens. The current study aimed to examine the intestine histology and microbiota and humoral innate immune response in juvenile sole fed diets with low (35 %) or high (72 %) content of plant protein (PP) ingredients supplemented with a multispecies probiotic bacteria or autolysed yeast. Fish fed the probiotic diet had lower growth performance. Lysozyme and complement activities were significantly higher in fish fed PP72 diets than in their counterparts fed PP35 diets after 17 and 38 days of feeding. At 2 days of feeding, fish fed unsupplemented PP72 showed larger intestine section area and longer villus than fish fed unsupplemented PP35. At 17 days of feeding, fish fed unsupplemented PP72 showed more goblet cells than the other dietary groups, except the group fed yeast supplemented PP35 diet. High dietary PP level, acutely stimulate fish innate immune defence of the fish after 2 and 17 days of feeding. However, this effect does not occur after 73 days of feeding, suggesting a habituation to dietary treatments and/or immunosuppression, with a reduction in the number of the goblet cells. Fish fed for 38 days with diets supplemented with autolysed yeast showed longer intestinal villus. The predominant bacteria found in sole intestine were Vibrio sp. and dietary probiotic supplementation caused a reduction in Vibrio content, regardless of the PP level.

Identificação de loci microssatélites com potencial de amplificação na espécie de Peixe-Rei (Odontesthes humensis) / Identification of microsatellite loci with amplification potential in "pejerrey" (Odontesthes humensis)

In this work, 25,806 potentially amplifiable microsatellite loci (PAL) were identified in pejerrey, (Odontesthes humensis), with 21% of dinucleotide, 22% trinucleotide, 37% tetranucleotide, 13% pentanucleotide and 7% hexanucleotide. Of the total loci, 167 were classified as "Best PAL", more likely to be variables in populations. The results show that with a small coverage of the genome it was possible to identify a large number of microsatellite loci...

The influence of regional profiles and senescence on the biomechanical properties of the temporalis muscle.

The present study focuses on the determination of the biomechanical properties for the human temporalis muscle. Eight pairs of temporalis muscles were collected from fresh cadavers and uniaxial traction tests were performed. Three specific regions were considered within the muscle: anterior, central and posterior. The results show that the central and posterior muscle regions are stiffer than the anterior ones. In order to interpret the different regional mechanical profiles observed in the temporalis muscle, a kinematic structural model for the muscle/joint system is proposed. Age influences the mechanical properties of the muscle, as older samples are apparently stiffer than younger ones.

Sex-biased miRNA expression in Atlantic halibut (Hippoglossus hippoglossus) brain and gonads.

The role of miRNA in fish sexual development is not elucidated yet. We profiled miRNAs in gonads and brains of Atlantic halibut using SOLiD sequencing technology. We found tissue- and sexually dimorphic expression of several miRNAs, including miR-29a, miR-34, miR-143, miR-145, miR-202-3p, miR-451, and miR-2188. miR-9 and miR-202 were abundant in brain and gonads, respectively. In the next step, we selected some miRNAs showing differential expression patterns between sexes and performed RT-qPCR on 3 age groups: juveniles, 3-year-, and 5-year-olds. In brains, miR-451 was significantly down-regulated in juveniles compared to adults. let-7a, miR-143, and miR-202-3p were up-regulated in gonads of mature males compared to immature females at the same age. We investigated the effect of suppressing aromatase cytochrome P450 enzyme on miRNA expression at the onset of sex differentiation through masculinization with Fadrozole or 17-α-methyltestosterone. We found significant differences in miRNA expression between masculinized individuals and untreated controls. miR-202-3p was significantly down-regulated in female juveniles compared to male juveniles. The expression levels of let-7a and miR-451 were restored after termination of the masculinization treatment. Our data give a first insight into miRNA involvement in sexual development in teleosts.

Profiling of key apoptotic, stress, and immune-related transcripts during embryonic and postembryonic development of Atlantic cod (Gadus morhua L.).

We investigated the profiles of 25 genes involved in apoptosis (bcl-x2, casp3, casp8, ccar1, mcl1, and tpt1), immunity (bty, cathl, ifng, il1b, il6, il8, il10, lyzg, and tfa), oxidative stress (cat, gpx4, gsh-px, hsp70, hsp90a, and sod1), and stress axis (crh, pomc, grl1, and mlr) during Atlantic cod development and compared the mRNA transcript levels between samples from farmed (FB) and wild broodstock (WB) using real-time polymerase chain reaction. The suitability of nine endogenous housekeeping genes and an external standard (luciferase) as reference genes was also evaluated. The cycle threshold values of all housekeeping genes differed significantly throughout Atlantic cod development. Fertilization and hatching rates were significantly higher in WB group (95 ± 1.8% and 89 ± 2.8%, respectively) compared with FB (75 ± 3.4% and 66 ± 3.2%, respectively). Eleven target genes, namely, ccar1, casp3, bcl-x2, mcl-1, cat, gsh-px, hsp70, sod1, lyzg, il8, and grl were expressed in both groups at fertilization stage, indicating their maternal transfer. Among them, transcripts of gsh-px were more abundant in WB eggs, while the expression of hsp70 was significantly higher in FB eggs. In FB larvae, expression of cat, hsp70, hsp90a, pomc, mlr, grl1, bclx2, and il6 was significantly higher at hatching and the expression of cat, gpx4, casp3 and ccar1 was significantly higher at first feeding stages, than in WB group. These findings give an insight into the expressional changes in certain category of genes involved in the embryonic development of Atlantic cod, which may eventually determine the ultimate quality of the larvae.

Expression of vasa and nanos3 during primordial germ cell formation and migration in Atlantic cod (Gadus morhua L.).

Primordial germ cells (PGCs), progenitors of gametes, are specified very early in embryonic development and undergo an active migration to the site where the future gonads will form. While the developmental pattern of PGCs during embryogenesis has been documented in few model teleost fishes, there is currently no information available for any representative of Superorder Paracanthopterygii. This includes Atlantic cod (Gadus morhua), which is a historically important food fish in both fisheries and aquaculture industries. In the present study, we cloned and characterized vasa and nanos3 and used them as germ cell markers in Atlantic cod. Sequencing results showed prospective vasa and nanos3 mRNA contained the domains used to describe their respective protein family. Furthermore, phylogenetic analysis using the amino acid sequence placed Atlantic cod Vasa distinct from representatives of three other taxonomic Superorders. Atlantic cod Nanos3 was placed with other homologues from the Nanos3 subfamily. Expression of both genes was detected from the first cleavage division; both were specifically expressed in Atlantic cod PGCs from the 32-cell stage. While nanos3 expression ceased during early somitogenesis, vasa was strongly expressed throughout embryonic development. Using vasa as a marker, we described the Atlantic cod PGC migration pattern. We demonstrated that Atlantic cod PGCs migrate ventral to the trunk mesoderm. With the exception of Pacific herring (Clupea pallasii), PGCs in other described teleost fishes migrate lateral to the trunk. The results from this study are the first step toward understanding germ line formation in Atlantic cod.

Experimental study of the influence of senescence in the biomechanical properties of the temporal tendon and deep temporal fascia based on uniaxial tension tests.

The present study focuses on the determination of human temporal tendons and deep temporal fascia biomechanical behavior. The tensile and shear loads generated by the temporal muscle are transmitted to the masticatory system by the temporal tendons and muscle fascia. Establishing these connective tissues' biomechanical properties will help to develop proper finite element-based simulations of the human masticatory system, which will allow better understanding of diseases affecting the temporomandibular joint. The tissues were harvested from 8 male fresh cadavers, who were subjected to uniaxial tension tests. Available literature states that different connective tissues undergo identical biochemical, cellular and mechanical changes during senescence. Several mechanical phenomena occur during maturation, resulting in stiffer, stronger and more stable connective tissues, although less flexible. Based on this evidence, the present study suggests that older temporal tendon and fascia samples are stiffer than younger ones. We also found significant higher secant moduli with increasing age.

Novel application of nitrifying bacterial consortia to ease ammonia toxicity in ornamental fish transport units: trials with zebrafish.

AIMS: To evaluate whether two commercial nitrifying bacterial consortia can function as biocontrol agents in ornamental fish transporting systems. METHODS AND RESULTS: The consortia were applied in a simulated set-up using zebrafish as the model organism in three trials. The efficacy of the bacterial consortia in controlling the ammonia level was validated by measuring water quality parameters such as total ammonia, nitrate and pH of the transport water. The bacterial community structure in the transport unit was studied using denaturing gradient gel electrophoresis. The consortia tested improved the nitrifying activity that in turn facilitated the reduction of ammonia that had accumulated during the transport. Bacterial profiles revealed the presence of both ammonia-oxidizing and nitrite-oxidizing bacteria in the transport bags. CONCLUSIONS: The application of the consortia during the transportation of zebrafish could profoundly improve the water quality by curbing ammonia accumulation. SIGNIFICANCE AND IMPACT OF THE STUDY: The potential of applying nitrifying bacteria as a bioremediation practice during the transport of ornamental fish has been demonstrated and this innovative approach contributes to the amelioration of current fish welfare in ornamental fish trade.

Fitase na dieta de alevinos de carpa húngara: desempenho e características de carcaça / Phytase in diet of common carp fingerlings: produtive performance and carcass traits

Foram utilizados 240 alevinos de carpa húngara, com peso médio de 3,42±0,32g, distribuídos em delineamento inteiramente ao acaso, com quatro tratamentos e quatro repetições. A dieta basal foi formulada com ingredientes de origem vegetal (36 por cento de proteína bruta e 3.200kcal de energia digestível). Os tratamentos corresponderam a quatro níveis de fitase ativa (UF) por kg na dieta: zero (controle), 500, 1000 e 1500UF/kg. A cada 15 dias, foi realizada uma biometria e, ao término do período experimental (45 dias), 5 por cento dos animais foram eutanasiados para determinação do rendimento de carcaça e composição químico-bromatológica. Os parâmetros de desempenho avaliados foram: peso final, ganho de peso, comprimento total, taxa de crescimento específico e sobrevivência. A suplementação de fitase não influiu no desempenho produtivo, entretanto melhorou significativamente as características da carcaça.

A total of 240 fingerlings, with initial average weight 3.42±0.32g, were distributed in a completely randomized experimental design, with four treatments and four replicates. Basal diet consisted of vegetal ingredients (36 percent crude protein and 3,220kcal of digestible energy). Treatments corresponded to four levels of active phytase (UF) per kg of diet: zero (control), 500, 1,000, and 1,500. Every 15 days, a biometry was made and at the end of the experimental period (45 days) 5 percent of animals were euthanized to determine carcass yield and chemical-bromatologic composition. The following variables were evaluated: final weight, weight gain, total length, specific growth rate, and survial. There was no effect of phytase on productive performance; however, it significantly improved carcass characteristics.

Dietary lipid levels have a remarkable impact on the expression of growth-related genes in Senegalese sole (Solea senegalensis Kaup).

In Senegalese sole (Solea senegalensis Kaup), growth is negatively correlated to dietary lipid levels. To understand the molecular basis of this effect a molecular toolbox of 12 genes, including fgf6, fst, mstn1, myf5, mrf4, myod1, myod2, myog, myHC, mylc2, igf1r and insr, was developed. The expression profiles of these genes were investigated in white muscle and liver of fish fed with three dietary lipid levels (4%, 12% and 20%). The expression of igf-I and igf-II was also examined. MRFs and myosins were only expressed in the muscle and, except for myf5, the general trend was a decrease in expression with an increase in dietary lipids. Fgf6 was identified for the first time in liver and its expression augmented in hepatic tissues with increasing dietary lipid levels. A similar tendency was observed for mstn1 and igf-I. The opposite was observed for igf1r expression in muscle and liver. Myog, mrf4, mylc2 and igf1r were highly correlated with growth and nutrient utilisation indices. In addition to its practical implications, this work provides a valuable contribution towards our understanding of the genetic networks controlling growth in teleosts.

A comparative study between two central veins for the introduction of totally implantable venous access devices in 1201 cancer patients.

INTRODUCTION AND AIMS: The Subclavian vein has been traditionally the vein of choice for central venous catheterization by general surgeons. Alternative settings for the introduction of totally implantable venous access devices (TIVAD) and the search for lower rates of morbidity led to the choice of other central veins. This study compares two different venous accesses, the subclavian (SC) versus the internal jugular (IJ), in terms of early and late morbidity. PATIENTS AND METHODS: This is a prospective, non-randomized, observational, uni-institutional (tertiary cancer centre) study. From March 2003 to March 2006, 1231 TIVADs were placed (1201 patients), in an ambulatory operating room, under vital signs and EKG monitoring, using local anaesthesia and without perioperative radiological control. RESULTS: Of the 1231 TIVAD, 617 were inserted via the SC and 614 via the IJ vein. The two groups (SC vs. IJ) were comparable as to general patient characteristics. Immediate complications were more frequent in the SC than in the IJ approach (respectively, 5.0% vs. 1.5%; p<0.001); Catheter malposition occurred in 2.3% when using the SC vein and in 0.2% for the IJ (p=0.001). Long term morbidity was also more frequent in the SC than in the IJ group (respectively, 15.8%, 87/551, vs. 7.6%, 39/512; p<0.001). Venous thrombosis developed in 2.0% of patients with an SC TIVAD as compared to 0.6% with an IJ TIVAD (p=0.044). Catheter malfunction was significantly dependent on the vein used: SC - 9.4% vs. IJ - 4.3% (p=0.001). CONCLUSIONS: Our results support the preferential use of the Internal Jugular vein for the insertion of TIVAD.

Two novel muramidases from skin mucosa of rainbow trout (Oncorhynchus mykiss).

Two novel antibacterial muramidases were purified to homogeneity from skin exudates of rainbow trout (Oncorhynchus mykiss). Unusually, one has an acidic isoelectric point and it is the first anionic muramidase to be reported for fish. Its molecular mass is 14,268 Da, as determined by mass spectrometry. The other muramidase is cationic with a mass of 14,252 Da. Partial N-terminal amino acid sequencing and peptide mapping strongly point to it being a c-type lysozyme, the first to be purified and characterised from skin of a salmonid. Its optimum pH ranges from 4.5 to 5.5 and its optimum temperature, at pH 5.0, is 33-49 degrees C, although it still exhibits activity at 5 degrees C. It is strongly bactericidal to the Gram-(+) bacterium Planococcus citreus, with a minimum bactericidal concentration of 100 U ml(-1), but is neither chitinolytic nor haemolytic. These two muramidases probably contribute to epithelial defence of the fish against microbes, either alone or in synergism with antibacterial peptides.

Antibacterial proteins in rainbow trout, Oncorhynchus mykiss.

Antibacterial proteins are an important part of the innate immune system for all animals. They have been extensively studied in mammals, amphibians and invertebrates, but have received only scant attention in fish. Their expression and processing, however, provide a way of monitoring defence vigour during development or with seasonal changes in physiology. The aim of the present work was to identify and characterise antibacterial proteins in rainbow trout. In vitro analyses of extracts of the peripheral blood leucocytes, head kidney leucocytes and mucus from adult unstimulated (non-immune) fish showed marked antibacterial activity against Gram positive bacteria. Fractionation by ion exchange chromatography and RP-HPLC of head kidney extracts showed the presence of two forms of lysozyme but no constitutively expressed antimicrobial proteins of < 10 kDa. By contrast, chromatographic analyses of mucus revealed at least four antibacterial proteins. Two are conventional lysozymes, a third is an unusual lysozyme-like protein with a low isoelectric point, and the fourth is a highly hydrophobic, cationic peptide of c. 3 kDa.

Lunar phase and psychiatric illness in goa.

There has been considerable research on the influence of the lunar cycle on mental illness with conflicting findings. The objective of this study was to determine the relationship between full moon (FM), new moon (NM), and other moon (OM) days and the frequency of specific psychiatric disorders in patients seen at a tertiary psychiatric hospital in Goa and to examine relationships with eclipses. Analysis of all new patients in two calendar years (1997 & 1993) was carried out. Diagnoses of interest were : Non affective psychoses; depression; and mania. The numbers of new patients seen at the OPD of the Institute of Psychiatry & Human Behaviour, Goa, with these diagnoses were compared between FM, NM and OM days. Numbers of patients with these diagnoses on eclipse days (lunar/solar) were also examined. A significant trend was observed for greater numbers of patients with non-affective psychoses on FM days, but no pattern was observed for mania or depression. The excess of non-affective psychoses was more marked on days of a visible lunar eclipse. A relationship between FM and non-affective psychoses has been demonstrated. Its implications for further research and the potential mechanism to explain these findings are discussed.

Aspiracao de corpo estranho em adulto / Foreign-body aspiration in adult

A obstrucao de via aerea proximal levando a asfixia com risco de vida imediato e o evento mais importante na aspiracao de corpo estranho. Contudo, pequenos corpos estranhos que atravessam a laringe sao geralmente assintomaticos no inicio e provocam sintomas respiratorios semanas ou anos antes do diagnostico. Nos descrevemos tres pacientes com evolucao clinica diferente e revisamos tecnicas de diagnostico e abordagens terapeuticas.

[Foreign-body aspiration in adults]. / Aspiração de corpo estranho em adulto.

Proximal airway obstruction and acute life-threatening asphyxia is the most important complication of foreign body aspiration. Small foreign bodies that transverse the larynx may be initially asymptomatic appearing serious respiratory disturbances only later. Three patients with different clinical evolutions are reported and the diagnostic and therapeutic approaches, discussed.