VATER/VACTERL association: clinical variability and expanding phenotype including laryngeal stenosis.

Vertebral abnormalities and anorectal and tracheoesophageal defects are the main manifestations in the VATER/VACTERL association. Radial defects vary from radial aplasia to thumb duplication. Heart and renal defects are reported with lower frequency. Additional malformations, such as the laryngeal stenosis described in the present patient, may expand the phenotype of the association. The wide spectrum of congenital abnormalities confirms the high clinical variability of VATER/VACTERL association which seems to be due to a disruption of blastogenesis. © 1992 Wiley-Liss, Inc.

Granulocytes of sea anemone Actinia equina (Linnaeus, 1758) body fluid contain and release cytolysins forming plaques of lysis

The Cnidaria phylum includes organisms that are among the most poisonous animals. The exact composition of cnidarian bioactive molecules is not known in detail, but little is known on the cells that produce the toxins. Here we have shown that the presence of cytolysins is not exclusive of nematocysts. A plaque-forming assay was carried out with cell populations extracted from the percoled body fluid showed for the first time that anthozoan granulocytes are able to form plaque of lysis. We have partitioned the total population of free cells into three distinct discrete bands by discontinuous Percoll gradient, and we have identified six small different types cells: morular granulocytes; cells…

Two new cases of Thrombocytopenia Absent Radius (TAR) syndrome: Clinical, Genetic and Nosologic Features

Two unrelated children affected by TAR syndrome, autosomic recessive disease with congenital thrombocytopenia and bilateral radial aplasia, are described. In the first case a mild thrombocytopenia has been compatible with a fairly normal life until the second year of age. The other child shows radial aplasia associated with other anomalies of the upper limbs, severe thrombocytopenia and leukemoid reaction. The relationship among TAR syndrome, Fanconi's anemia and Roberts' syndrome are briefly discussed.

Multi-level responses of Mytilus galloprovincialis to environmental stressors

Phenoloxidase-dependent cytotoxic mechanism in ascidian (Styela plicata) hemocytes active against erythrocytes and K562 tumor cells.

The cytotoxic activity against rabbit erythrocytes (RE) and human K562 tumor cells by Styela plicata hemocytes was significantly related to the phenoloxidase (PO) which converts phenols to quinone and initiates the melanogenic pathway. The effector hemocyte population, separated in a Percoll density gradient band, enriched in a granulocyte type named "morula cells", was examined with RE in a hemocyte cytotoxic assay and plaque forming cell assay. Inhibition experiments with the copper chelating agents 1-phenyl-2-thiourea and tropolone, the substrate analogue sodium benzoate and sodium ascorbate support the notion that hemocyte cytotoxic activity is a PO-dependent mechanism. Treatments of he…

Biochemical genetic differentiation between Pomatoschistus marmoratus and P. tortonesei (Pisces, Gobiidae).

Several diagnostic genetic markers were identified in Pomatoschistus marmoratus and P. tortonesei using polyacrylamide gel electrophoresis (PAGE) of allozymes. Twenty-one loci were resolved, including the electrophoretic pattern of muscle proteins. The MDH*, PGM- 1,2*, EST-1,2*, FUM* and PGI-2* loci exhibited different alleles which were fixed for the two species being analysed. Genetic distance, as calculated by Nei’s index, showed a value of 0·413. Environmental hypersalinity, could have influenced the geographical distribution of P. tortonesei.

Gender-related variations in hemolymph parameters of Carabus lefebvrei (Coleoptera: Carabidae): HPLC analysis and phenoloxidase activity

We characterized the enzymatic activity of basal and total phenoloxidase and HLPC and SDS- PAGE profiles in hemolymph of Carabus lefebvrei males and females at different reproductive status. The phenoloxidase activity was activated by trypsin and inhibited by phenoloxidase activity specific inhibitor phenylthiourea. Our results demonstrated that both in males and females, there were no significant differences in the basal phenoloxidase activity between reproductive and virgin beetles, while the total phenoloxidase activity increased significantly in virgin specimens. Thus, resources seem to be invested to increase the humoral response in pre-reproductive phase forming a barrier against path…

Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L)

not available

Observing myoglobin proteinquake with an X-ray free-electron laser

The events following the photodissociation of the bond be- tween myoglobin and its ligand have been extensively studied with a variety of experimental, theoretical and computational methods [1]. The results of these investigations have been rationalized in terms of a model that implies a protein quake- like motion [2], i.e. the propagation of the strain released upon photoexcitation through the protein similar to the prop- agation of acoustic waves during an earthquake. The exper- imental investigations performed so far have been based on spectroscopic measurements or did not have sufficient time- resolution to measure the timescale of such “proteinquake”. We have obtained direct experiment…

Multiple Wesen

Abstract in tedesco del Poster Multiple Wesen, esposto al Simposio internazionale „Lunar Base. Bauen fuer ein Leben auf dem Mond” tenuto a Kaiserslautern il 12-13 Maggio 2009. Was baut man auf dem Mond? Wie baut der Erdmensch auf dem Mond? Wofür wird gebaut? Für wem wird gebaut? Welche Nutzungen, wie groß, welche Materialien? Man kann weiter fragen,... Sind dieses überhaupt die richtige Fragen? Kann man überhaupt vom Bauen auf dem Mond sprechen? Oder geht es darum, was der Mensch auf den Mond mit bringt, aus seiner Kenntniss, seinen Vorstellungen, seinen Träumen, seiner Erfahrung: was bringt er von dem Reich des Bekannten (der Erde) in das Reich des nur Vorstellbaren (dem Mond). Also: sich …

Immune-neuroendocrine biology of invertebrates: a collection of methods

In the last decade there has been a considerable increase of interest towards the elucidation of several aspects of invertebrate biology, including immunity and neuroendocrinology. However, due to the difficulties connected to the great variety of morphology and adaptations displayed by invertebrates, and also in consideration of the number of techniques that are applied in the various laboratories, research on invertebrates still suffers from hampering that have been substantially overcome in vertebrate models, especially in mammals. The aim of this Technical Report is to provide the reader a useful list of well-established morphological and morpho-functional protocols in order to facilita…

Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: Further evidence for the existence of a limb defect gene in 6q21

Ectrodactyly is a developmental defect of the distal limbs characterized by marked clinical variability and genetic heterogeneity, also reflected in the observation of different chromosome abnormalities non randomly associated with longitudinal postaxial limb deficiencies. The one most frequently found in patients with split hand-split foot (SHSF) involves chromosome band 7q22. Recently, structural anomalies of chromosome 6q21 have been reported in 2 unrelated patients with SHSF, suggesting that this region may also contain genes responsible for limb development [Braverman et al., 1993. Am J Hum Genet, suppl 53: 410; Viljoen and Smart, 1993. Clin Dysmorph 2: 274-277]. We report on a third p…

Separated hemocyte populations from the ascidian Ciona intestinalis contain and release in vitro opsonizingCa++-independent and β-galactoside specific lectins

AIF-1 and RNASET2 are involved in the inflammatory response in the Mediterranean mussel Mytilus galloprovincialis following Vibrio infection

Filter-feeding bivalves, such as the Mytilus species, are exposed to different types of bacteria in the surrounding waters, in particular of the Vibrio genus. Mussels lack an adaptive immune system and hemocytes can recognize pathogen-associated molecular patterns (PAMPs) via pattern recognition receptors (PRRs) to activate intracellular signaling pathways to trigger the antimicrobial effectors synthesis. Among the areas of bivalve immunity that deserve study include the role of hemocyte subpopulations. Since little information are available on immune responses at the tissue level to human pathogenic vibrios commonly detected in coastal waters involved in seafood-borne diseases, in this wor…

Phenoloxidases of different sizes are modulated by LPS inoculation into ciona intestinalis tunic and pharynx

In the present study, to further characterize the pro-phenoloxidase (proPO) and active phenoloxidase (PO) involved in the Ciona intestinalis inflammatory response, tunic and pharynx homogenate supernatants were separated on high pressure liquid chromatography and fractions were assayed for the PO activity before and after LPS inoculation, as well as before and after trypsin treatment which activates proPO. The LPS inoculation per se did not significantly change the basal PO activity of the tunic homogenate supernatant (THS) and pharynx homogenate supernatant (PHS) restricted in two confluent peaks, whereas a significant enhancement was observable after the trypsin treatment. This trypsin ef…

Growth charts of Down syndrome in Sicily: evaluation of 382 children 0-14 years of age.

We present the results of a study performed on a Sicilian population of children with Down syndrome (DS) 0–14 years of age, observed between 1977 and 1988. Data from the present report concern 382 subjects with nonmosaic 21 trisomy, including 239 males (62.6%) and 143 females (37.4%). We excluded all DS children observed in the same period with associated pathology (congenital heart defects, gastrointestinal malformations, malabsorption, hypothyroidism, and thalassemia). Overall, 1,464 measurements were performed of length or height, weight, and head circumference. Means and standard deviation (SD) were calculated for all of these parameters. Our data confirm a trend toward a progressive im…

Identification, cloning and environmental factors modulation of a αβ defensin from the lessepsian invasive mussel Brachidontes pharaonis (Bivalvia: Mytilidae)

International audience; Immunological effectors of invasive species playing a role in addressing new colonization are still poorly studied. In the present study the cDNA sequence of the defensin from a Lessepsian invasive species, the Red Sea mussel Brachidontes pharaonis, was cloned using RACE method. Defensins are a class of widely known antimicrobial peptides (AMPs), oligopeptides with a broad spectrum of targeted organisms ranging from viruses to parasites. Analysis of BpDef sequence (262 bp) revealed the presence of an ORF coding for 81 amino acids. The full-length amino acid sequence showed the highest similarity to antimicrobial peptides MGD1 and MGD2 sequence from Mytilus galloprovi…

Artificial neural networks and liver diseases: An economic and pre-imaging diagnosis

THE EXPRESSION OF IMMUNE-RELATED GENES IS INVOLVED IN ASCIDIAN DEVELOPMENT

Holoprosencephaly: examples of clinical variability and etiologic heterogeneity.

Clinical variability and causal heterogeneity of holoprosencephaly is discussed in relation to several newborn infants with cyclopia (cases 4,5,6), cebocephaly (cases 2,3), and premaxillary agenesis (case 1). In subjects with holoprosencephaly, the presence of multiple malformations is an indicator of concomitant chromosome aberrations, as in present case 1 (Down syndrome) and case 3 (trisomy 13). Cases 5 and 6 are two monozygotic twins with the same type of cyclopia and alobar holoprosencephaly recognized by prenatal ultrasonography. The diagnostic importance of ultrasonographic, cytogenetic, and pathological studies is pointed out in view of etiologic evaluation, genetic counseling, and p…

Molluscan antimicrobial peptides, a review from activity-based evidences to computer-assisted sequences

Antimicrobial peptides (AMPs) represent the most universal immune effectors. Molluscs constitute the second largest animal phylum, after Arthropods, in term of number of species. Only a negligible number has been investigated regarding AMPs. The choice of the species to be studied relied on their economical importance and availability. First studies on molluscan AMPs dated from 1996 and were based on biological activities of biochemical-purified fractions. Such approach released all the original structures we know, with biological activity sometimes different from one isoform to another. Then, molecular biology techniques were applied to molluscan AMPs starting in 1999. Complete screening o…

First evidence of antimicrobial activity of neurotoxin 2 from anemonia sulcata (Cnidaria)

International audience; We investigated the antibacterial activity of Anemonia sulcata (Cnidaria, Anthozoa) tentacle and body acidic extracts. Biochemical purification consisted of first step on solid phase Sep-Pak C8 column followed by several HPLC runs on C18 column using different conditions. Anti-Micrococcus lysodeikticus activity has been detected in 40 % acetonitrile fractions. The resulting purified molecule from tentacles had a molecular mass determined by MALDI-TOF mass spectrum of 4946,299 Da and has been completely sequenced. Its aa sequence revealed identity with the Neurotoxin 2 (ATX-II), a Na + channel blocking toxins. Consequently, ATX-II appeared to display a dual role as to…

Rare sex chromosome aneuploidies in humans: Report of six patients with 48,XXYY, 49,XXXXY, and 48,XXXX karyotypes

Ultrafast myoglobin structural dynamics observed with an X-ray free-electron laser.

Light absorption can trigger biologically relevant protein conformational changes. The light-induced structural rearrangement at the level of a photoexcited chromophore is known to occur in the femtosecond timescale and is expected to propagate through the protein as a quake-like intramolecular motion. Here we report direct experimental evidence of such ‘proteinquake’ observed in myoglobin through femtosecond X-ray solution scattering measurements performed at the Linac Coherent Light Source X-ray free-electron laser. An ultrafast increase of myoglobin radius of gyration occurs within 1 picosecond and is followed by a delayed protein expansion. As the system approaches equilibrium it underg…

Electrophoretic study on two morphologically distinguishable populations of Paracentrotus lividus (Echinodermata) from distinct areas of the mediterranean coast.

Sabella spallanzanii mucus bacterial agglutinating activity after arsenic exposure. The equilibrium between predation safety and immune response stability

We report the Sabella spallanzanii mucus bacterial agglutination response after inorganic arsenic (As) exposure. As is actively adsorbed from the surrounding environment and accumulated at high concentrations in tissues as an anti-predatory strategy. Here we investigated the effect of high As concentrations on its immunobiological response. It may act on mucus lectins and on its ability to agglutinate bacteria. We concluded that As at high concentrations leads to the inhibition of pathogen recognition. Nevertheless, although its biological activity is significant reduced in winter, responses to As concentrations are very similar, and below a certain threshold do not induce alterations, supp…

Immunomodulation and physiological responses of Mytilus galloprovincialis as bioindicators of environmental change

Immunomodulation and physiological responses of Mytilus galloprovincialis as bioindicators of environmental change Oxygenation level temperature increases and changes in food availability are predicted to occur in the future. In such scenario, a global climate change (GCC), there is growing concern for the health status of wild and farmed organisms. Bivalve molluscs, are important components of coastal marine ecosystems, and as sedentary and filter feeders, are good bioindicators of environmental conditions. The ability of organisms to maintain the immunosurveillance unaltered under adverse environmental conditions may enhance theirs survival capability. Only a few studies have investigated…

Evidence of cytotoxic activity against mammalian red blood cell of Na+ channel neurotoxin (Ae1) from sea anemone (Actinia equina)

The diversification of anthozoan toxins played an important role in the ability to colonize various ecological niches. In this study we evaluated the hemolytic activity of HPLC separated fraction of tentacle extracts of sea anemone Actinia equina. Toxic components from acid tissue tentacle extracts were investigated by size exclusion and reverse phase HPLC to characterize cytolytic molecules. A novel low molecular weight active fraction was sequenced by MALDI TOF analysis and a protein correspondent to 5.4 kDa Sodium channel neurotoxin (Ae1) from A. equina was identified. Synthetic Ae1 was assayed and it showed an hemolytic activity against mammalian erythrocytes in a dose dependent manner.…

SANTABARBARA HOSPITAL

Progetto selezionato ADI DESIGN INDEX 2015 e candidato al compasso d'oro 2016. Corporate image/identity e supporti di wayfinding per struttura ospedaliera a Gela. Il progetto comunicativo si innesta in un ampio programma di trasformazione della clinica che ha interessato la riorganizzazione interna dei servizi – la Clinica, gli Ambulatori, la Diagnostica e la nuova Residenza Sanitaria Assistita (RSA) – l’ammodernamento dell’edificio, l’efficientamento delle modalità operative e dei protocolli per l’erogazione dei servizi, oltre che al normale e continuo aggiornamento del personale e all’adeguamento delle attrezzature. All’interno di questo processo dinamico, che mira al consolidamento di un…

Variation of environmental condition and diet act on immune parameters of Mytilus galloprovinciali

Variation of environmental condition and diet act on immune parameters of Mytilus galloprovincialis The knowledge of the immunity mechanisms as environmental indicators and their alterations in the case of physical stress can be of fundamental importance in the environmental management programs. Recently has been shown that environmental factors affect immune responses in some species of bivalves. In this study we assessed different enzymatic activities from digestive gland of M. galloprovincialis such esterase, phosphatase and phenoloxidase (PO), involved in digestive inflammatory, detoxification and melanization processes. Particularly, esterases catalyze the hydrolysis reaction of the es…

Sabella spallanzanii mucus contain a galactose-binding lectin able to agglutinate bacteria. Purification and characterization

Lectins are present in almost all living organisms and are involved in several biological processes, including immune responses. In the present study, a calcium dependent galactose-binding lectin exhibiting an apparent MW of 43 kDa has been characterized and purified from the mucus of the polychaete Sabella spallanzanii by using both affinity chromatography and high-pressure liquid chromatographic methods. Its agglutinating activity towards rabbit erythrocytes was significantly modified by the addition of calcium or EDTA. The activity was optimal at temperature values comprised between 4 and 18 °C, maintain a 50% of activity between 20 and 37 °C, was significant deleted after exposure at 50…

Lessons in Immunity: From Single-cell Organisms to Mammals

Lessons in Immunity: From Single-cell Organisms to Mammals stems from the activity of the Italian Association of Developmental and Comparative Immunobiology (IADCI), represented by the editors. This book is presented as a series of short overviews that report on the current state of various relevant fields of immunobiology from an evolutionary perspective. The overviews are written by authors directly involved in the research, and most are members of the IADCI or have otherwise been involved in the related research for their respective overview. This publication offers scientists and teachers an easy and updated reference tool. Provides simple and updated reviews on the immunobiology of a w…