Fibers in pediatric functional gastrointestinal disorders. Practical considerations from clinical cases.

Introduction: Functional gastrointestinal disorders (FGIDs) are common in children and incur high direct and indirect social costs. Partially hydrolyzed guar gum (PHGG) is a natural and water-soluble dietary fiber that is derived from guar gum. It has been proposed as complementary therapy in pediatric FGIDs, especially in chronic functional constipation and irritable bowel syndrome.Areas covered: By focusing on four clinical cases, this article illustrates the use of PHGG fiber as sole supplement ingredient or as a formula component in orally- and tube-fed children suffering from malnutrition due to FGIDs, with or without special medical conditions such as neurological disability. The formula used was a whey peptide-based nutritionally complete formula containing PHGG as a source of soluble dietary fiber. It was offered under medical supervision and after full consideration of all feeding options.Expert opinion: Implementing appropriate feeding behaviors, adapted to age and potential comorbidities, is an essential requisite for therapeutic management of FGIDs. The use of a PHGG supplement or a nutritionally complete formula containing PHGG as a source of soluble dietary fiber can be helpful to manage pediatric FGIDs

Tanella cave (Monte Baldo-Verona, Italy): a record of environmental data on the last glacial period

Since 2003, an extensive hydrogeological investigation has been carried out on Monte Baldo, in order to make a census of springs occurring along the west side of the mountain and to evaluate the quality of their water. The investigation included morphological and hydrogeological observations concerning the Tanella cave and interdisciplinary investigations performed on the deposits found in the cave. This paper shows the first data concerning the hydrogeology of the cave, as well as data on stratigraphy, pollen and micro-charcoals obtained from the analyses of a well preserved sequence located at ca. 80 m from the entrance (sequence A). The aim of the study was to reconstruct the environment of the area around the cave along the time span testified by the sequence. The sequence is 60 cm thick and was built up by fluvioglacial sediments followed by lacustrine sediments. Five samples taken along the sequence plus three recent control samples (mosses), collected in places assumed as origins of the pollen input, were studied for pollen and micro-charcoals. Pollen preservation was good and concentration varied from 101 to 103 p/g. Pollen spectra from the cave showed the evolution from a landscape of alpine grassland above the timberline, likely of glacial age, to a more forested Holocene landscape similar in flora to the current one testified by the control samples. Pollen probably arrived in the cave by air, water and animals and from plants growing near the cave. It appears to have been continuously underwater after its deposition due to its very good state of preservation. Micro-charcoals suggested that fires were sometimes lit near the cave

Genetic investigations on 8 patients affected by ring 20 chromosome syndrome

<p>Abstract</p> <p>Background</p> <p>Mosaic Chromosome 20 ring [r(20)] is a chromosomal disorder associated with a rare syndrome characterized by a typical seizure phenotype, a particular electroclinical pattern, cognitive impairment, behavioural problems and absence of a consistent pattern of dysmorphology. The pathogenic mechanism underlying seizures disorders in r(20) syndrome is still unknown. We performed a detailed clinical and genetic study on 8 patients with r(20) chromosome, aimed at detecting the genetic mechanism underlying r(20) syndrome.</p> <p>Methods</p> <p>We submitted 8 subjects with a previous diagnosis of ring 20 chromosome mosaicism to a clinical re-evaluation, followed by cytogenetic, FISH, array-CGH and molecular analyses. The genetic study was also extended to their available parents.</p> <p>Results</p> <p>FISH and array-CGH experiments indicate that cryptic deletions on chromosome 20 are not the cause of the r(20) chromosome associated disease. Moreover, no evidence of chromosome 20 uniparental disomy was found. Analysis of FISH signals given by variant in size alphoid tandem repeats probes on the normal chromosome 20 and the r(20) chromosome in the mosaic carriers suggests that the r(20) chromosome is the same chromosome not circularized in the "normal" cell line.</p> <p>Conclusions</p> <p>Higher percentages of r(20) chromosome cells were observed to be related with precocious age at seizure onset and with resistance to antiepileptic drug treatment. Behavioural problems also seem to be associated with higher percentages of r(20) chromosome cells. Our results suggest that an epigenetic mechanism perturbing the expression of genes close to the telomeric regions, rather than deletion of genes located at the distal 20p and/or 20q regions, may underlie the manifestation of r(20) syndrome.</p

LA PALAFITTA DI TOMBOLA DI CEREA (VR). LO SCAVO 1999.

La palafitta \ue8 stata scoperta nel 1955 all'interno della Valle del Menago, poche centinaia di metri a Sud del gruppo di case di Tombola di Cerea (VR). Dopo un primo scavo effettuato nello stesso anno da parte di Francesco Zorzi, direttore del Museo Civico di Storia Naturale di Verona, le ricerche sono riprese nel 1999 da parte della Soprintendenza Archeologica del Veneto. I risultati di queste ricerche hanno accertato che l'abitato preistorico era posto su palafitta all'interno di un ambiente di tipo palustre. Sono conservati solo dei pali verticali e alcune travi orizzontali, che fanno ipotizzare l'esistenza di una piattaforma lignea. Gli elementi strutturali della palafitta trovano confronti in altri abitati d'ambiente umido della media et\ue0 del Bronzo. L\u2019inquadramento geomorfologico finalizzato alla ricostruzione paleogeografica mostra che il sito si colloca al centro della Paleovalle del f. Menago, un\u2019incisione larga alcune centinaia di metri e profonda oltre una decina di metri, alla base di un potente spessore di torbe. Gli studi pregressi, relativi all\u2019origine della profonda incisione generata dall\u2019omonimo fiume di risorgiva, si richiamano principalmente a fattori geodinamici legati a linee tettoniche sepolte, quali moventi principali per le incisioni causate dalle diversione di canali di rotta atesini richiamati verso il bacino delle Valli Grandi Veronesi, verificatesi in et\ue0 tardoglaciale-olocenica antica. L\u2019analisi di nuove litostratigrafie rilevate su esposizioni individuate all\u2019interno della paleovalle, ha condotto a riscontrare la presenza di uno spesso e pressoch\ue9 continuo riempimento di sedimenti organico-torbosi, che contrassegnano gli accrescimenti e le sedimentazioni verificatesi a partire dai livelli basali della stazione palafitticola, deposizioni che sono perdurate sino a date piuttosto recenti. Una serie di dettagliati confronti operati con i termini delle sequenze di riempimento torboso-detritiche del bacino che si sviluppava all\u2019esterno delle arginature del vicino e coevo sito di Fondo Paviani, ha portato a verificare un\u2019analoga evoluzione negli accrescimenti che contrassegnano i tratti superiori di queste due importanti successioni alluvio-organiche. Si giunge in definitiva a far intervenire una medesima incidenza di fattori antropici e climatici quali concause principali nello sviluppo dei riempimenti sommitali della Paleovalle del Menago, in corrispondenza della stazione palafitticola della Tombola di Cerea e del sito arginato di Fondo Paviani. Lo scavo ha restituito un notevole quantitativo di materiale ceramico (ca. 620 kg) e una percentuale minoritaria di manufatti in bronzo, terracotta e osso-corno. Il presente contributo si concentra sull'analisi crono-tipologica dei materiali focalizzando l'attenzione sulla ceramica di impasto medio-fine ai fini dell'inquadramento complessivo e del confronto con materiale proveniente da siti geograficamente limitrofi. Le datazioni assolute delle strutture lignee, ottenute dall\u2019applicazione della dendrocronologia e dal radiocarbonio, collocano gli elementi verticali di Tombola di Cerea nella seconda met\ue0 del XV secolo cal BC, o al pi\uf9 tardi nei primi decenni del XIV secolo cal BC; essi sono stati ottenuti da alberi di quercia abbattuti in momenti successivi, a intervalli di circa 10 anni. Le ricerche archeobotaniche hanno compreso un\u2019analisi palinologica condotta su 18 campioni presi da una carota prelevata all'interno dell\u2019abitato palafitticolo, ed un\u2019analisi carpologica e xilo-antracologica su due campioni provenienti da unit\ue0 stratigrafiche cronologicamente corrispondenti alla parte basale della carota. L\u2019analisi dei resti vegetali ha permesso di disegnare il quadro ambientale dell\u2019insediamento. Il luogo era ricco di ambienti umidi soprattutto ripariali, con boscaglie d\u2019igrofile e con elofite, con situazioni di prati periodicamente inondati e fossati poco profondi. La presenza antropica \ue8 suggerita dalla coltivazioni di cereali e altri indicatori antropogenici. Inoltre i dati carpologici e/o pollinici testimoniano la disponibilit\ue0 nell\u2019area di varie piante con frutti eduli, come prugnolo, nocciolo, ribes, noce e vite. Il ritrovamento di reperti di Baldellia ranuncoloides -una specie oggi minacciata sottolinea come le ricerche archeobotaniche forniscano informazioni anche dal punto di vista naturalistico utili per conoscere meglio la storia di specie oggi in rarefazione. L\u2019insieme faunistico \ue8 composto complessivamente da 1995 reperti ossei. Quasi l\u201980% dei resti \ue8 stato identificato a livello specifico. La maggior parte dei resti appartiene alle specie domestiche: bue, pecora, capra e maiale, seguite da cavallo e cane. La distribuzione delle classi d\u2019et\ue0 mostra come l\u2019allevamento degli Ungulati fosse finalizzato non solo all\u2019ottenimento di carni, ma anche alla produzione di latte e lana. La pratica della caccia, volta allo sfruttamento di specie di ambiente forestale (cervo, capriolo, cinghiale), appare un\u2019attivit\ue0 marginale. Le tracce di macellazione sono numerose e attestano l\u2019utilizzo di strumenti sia litici sia metallici. Durante lo studio sono stati riconosciuti 18 manufatti in materia dura animale, ben conservati, che hanno permesso l\u2019identificazione delle tracce di lavorazione utili per la ricostruzione delle catene operative.The pile dwelling was discovered in 1955 in the valley of the river Menago, just a few hundred meters south of the settlement of Tombola di Cerea (VR). A first excavation was carried out that very year by Francesco Zorzi, director of the Museo Civico di Storia Naturale of Verona; the digging has been resumed in 1999 by the Soprintendenza Archeologica of Veneto. The results of these excavations have ascertained that the prehistoric dwelling site was built in a marshy environment. Only some vertical poles and some horizontal beams were preserved, which leads to the hypothesis that there existed a wooden platform on which the sheds were standing. The structural elements of the palafitte find correspondents in others settlements in moist environment from the Middle Bronze Age. The paleogeographic reconstruction of the immediate hinterland confirm the location of the site at the center of the Menago River Paleovalley, an incision a few hundred meters wide and more than ten meters deep, at the base of a thick layer of peat. Previous studies, related to the origin of the deep incision generated by the homonymous spring-line river, mainly refer to geodynamic factors linked to buried tectonic lines, as main motives for the incisions caused by the diversion of Adige breach-channels captured towards the basin of Great Veronese Valleys, which occurred in the late Lateglacial-Holocene age. The analysis of new lithostratigraphies detected on exposures inside the paleovalley, has led to find the presence of a thick and almost continuous filling of organic-peaty sediments, which mark the accretions and the sedimentations verified starting from the basal levels of the pile-dwelling site, depositions that have lasted until fairly recent dates. A series of detailed comparisons made with the terms of the peat-debris-filling sequences of the basin that developed outside the embankments of the near and coeval Fondo Paviani site, led to verify a similar evolution in the growths that mark the upper reaches of these two important alluvio-organic successions. Ultimately, is claimed that the same incidence, of anthropogenic and climatic factors, is involved as the main contributors to the development of the upper fills of the Menago Paleovalley, in correspondence with the pile-dwelling station of the Tombola di Cerea and the embanked site of Fondo Paviani. A great number of ceramic fragments (ca 620 kg) and a smaller amount of bronze, terracotta and bone-horn artefacts had been found. This paper focus on chrono-typological analysis of the archaeological finds, in particular on ceramic of the medium-fine tipe. The goal is the overall classification artefacts, accompanied by a comparison made from materials found in geographically nearbysites. Dendrochronology and radiocarbon allow to date the wooden structures to the second half of the 15th Century cal BC, or in the first decades of the 14th Century cal BC at the latest; the vertical posts come from oak tree felled down once about every ten years. Archaeobotanical study includes pollen analysis carried out on 18 subsamples taken from a core collected in the pile-dwelling settlement and carpological and xilo-anthacological analysis, from 2 samples taken from layers (stratigraphic units) corresponding to the bottom of the core. The results allows to draw the environmental framework of the settlement. The pollen diagram shows that the landscape was rich of wet environments: ponds, wet grassland and hygrophilous wood. The human activity was suggested by a number of anthropogenic indicators: cereal fields, ruderals and weeds. Seeds/fruits and pollen data testify to the presence in the area of edible fruits from plants such as blackthorn, hazelnut, currant, walnut and grapevine. The finds of Baldellia ranuncoloides \u2013 a threatened plants today - underline that the archaeobotanical research provide naturalistic information that allow us to better understand the history of plant species becoming rare today. The faunal assemblage is composed by 1995 bone remains. More than 80% of the faunal remains was identified at species level. Domestic animals are the most frequent. Age at death highlights different breeding strategies focused on meat consumption and secondary products. Hunting was barely practiced on wild ungulates (red deer, roe deer, wild boar). Several anthropic marks were identified on the faunal remains emphasizing the use of lithic and metal tools. During the analysis 18 animal hard material artefacts were identified. The good state of preservation allowed us to identify working traces linked to the reduction sequences of the tools

NOTCH and Graft-Versus-Host Disease

In allogeneic hematopoietic stem cell transplantation, which is the major curative therapy for hematological malignancies, T cells play a key role in the development of graft-versus-host disease (GvHD). NOTCH pathway is a conserved signal transduction system that regulates T cell development and differentiation. The present review analyses the role of the NOTCH signaling as a new regulator of acute GvHD. NOTCH signaling could also represent a new therapeutic target for GvHD

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

Mowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype-phenotype correlations of MWS.MethodsIn a collaborative study, we analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described the prevalence of all clinical aspects, including attainment of neurodevelopmental milestones, and compared the data with the various types of underlying ZEB2 pathogenic variations.ResultsAll anthropometric, somatic, and behavioral features reported here outline a variable but highly consistent phenotype. By presenting the most comprehensive evaluation of MWS to date, we define its clinical evolution occurring with age and derive suggestions for patient management. Furthermore, we observe that its severity correlates with the kind of ZEB2 variation involved, ranging from ZEB2 locus deletions, associated with severe phenotypes, to rare nonmissense intragenic mutations predicted to preserve some ZEB2 protein functionality, accompanying milder clinical presentations.ConclusionKnowledge of the phenotypic spectrum of MWS and its correlation with the genotype will improve its detection rate and the prediction of its features, thus improving patient care.GENETICS in MEDICINE advance online publication, 4 January 2018; doi:10.1038/gim.2017.221

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Purpose: Mowat–Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype–phenotype correlations of MWS. Methods: In a collaborative study, we analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described the prevalence of all clinical aspects, including attainment of neurodevelopmental milestones, and compared the data with the various types of underlying ZEB2 pathogenic variations. Results: All anthropometric, somatic, and behavioral features reported here outline a variable but highly consistent phenotype. By presenting the most comprehensive evaluati