Massive haemoperitoneum caused by uterine leiomyoma: a case report

Spontaneous haemoperitoneum due to rupture of a vein overlying a myoma, however, is a rare entity it and may cause anaemia and hypovolemic shock. The first case was reported by Von Rokitansky in 1861 as an autopsy finding. To-date, less than 100 cases have been reported in the literature. We report a case of spontaneous rupture of a vein overlying leiomyoma causing life-threatening blood loss necessitating massive transfusion and emergency surgery

Modelling skeletal pain harnessing tissue engineering

Bone pain typically occurs immediately following skeletal damage with mechanical distortion or rupture of nociceptive fibres. The pain mechanism is also associated with chronic pain conditions where the healing process is impaired. Any load impacting on the area of the fractured bone will stimulate the nociceptive response, necessitating rapid clinical intervention to relieve pain associated with the bone damage and appropriate mitigation of any processes involved with the loss of bone mass, muscle, and mobility and to prevent death. The following review has examined the mechanisms of pain associated with trauma or cancer-related skeletal damage focusing on new approaches for the development of innovative therapeutic interventions. In particular, the review highlights tissue engineering approaches that offer considerable promise in the application of functional biomimetic fabrication of bone and nerve tissues. The strategic combination of bone and nerve tissue engineered models provides significant potential to develop a new class of in vitro platforms, capable of replacing in vivo models and testing the safety and efficacy of novel drug treatments aimed at the resolution of bone-associated pain. To date, the field of bone pain research has centred on animal models, with a paucity of data correlating to the human physiological response. This review explores the evident gap in pain drug development research and suggests a step change in approach to harness tissue engineering technologies to recapitulate the complex pathophysiological environment of the damaged bone tissue enabling evaluation of the associated pain-mimicking mechanism with significant therapeutic potential therein for improved patient quality of life

Generare relazioni di comunità nell’era del digitale: la sfida delle parrocchie italiane prima e dopo la pandemia

Durante la pandemia da COVID-19 ci siamo resi conto di quanto fossero importanti le relazioni sociali e di quanto mancassero, al nostro vivere quotidiano, gli ambiti che rendevano possibili e accessibili tali relazioni. Un esempio di essi è costituito dalle parrocchie, realtà di cui si conosce poco dal punto di vita della socialità e della capacità reale o potenziale di generare relazioni sociali propositive. Per gettare luce su tale contesto è stata realizzata una ricerca quanti-qualitativa di tipo interdisciplinare che, attraverso la raccolta di questionari, interviste e focus group, ha cercato di comprendere come le relazioni personali e digitali agite nell’ambito delle parrocchie italiane contribuissero a costruire ambiti di comunità. I risultati evidenziano che attraverso tali relazioni, esperite sia in presenza sia attraverso il ricorso alle tecnologie digitali di comunicazione, le parrocchie generano resilienza, aggregazione sociale e inclusione. Emerge in sintesi una vivacità e una creatività da parte delle parrocchie nella promozione e nel potenziamento sia della comunità locale, sia di quella simbolica, in cui le reti di relazioni personali e mediali attivano progetti comunitari a volte anche innovativi

Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder

Background: Tourette Syndrome (TS) is a neuropsychiatric disorder in children characterized by motor and verbal tics. Although several genes have been suggested in the etiology of TS, the genetic mechanisms remain poorly understood. Methods: Using cytogenetics and FISH analysis, we identified an apparently balanced t(6,22)(q16.2;p13) in a male patient with TS and obsessive-compulsive disorder (OCD). In order to map the breakpoints and to identify additional submicroscopic rearrangements, we performed whole genome mate-pair sequencing and CGH-array analysis on DNA from the proband. Results: Sequence and CGH array analysis revealed a 400 kb deletion located 1.3 Mb telomeric of the chromosome 6q breakpoint, which has not been reported in controls. The deletion affects three genes (GPR63, NDUFA4 and KLHL32) and overlaps a region previously found deleted in a girl with autistic features and speech delay. The proband's mother, also a carrier of the translocation, was diagnosed with OCD and shares the deletion. We also describe a further potentially related rearrangement which, while unmapped in Homo sapiens, was consistent with the chimpanzee genome. Conclusions: We conclude that genome-wide sequencing at relatively low resolution can be used for the identification of submicroscopic rearrangements. We also show that large rearrangements may escape detection using standard analysis of whole genome sequencing data. Our findings further provide a candidate region for TS and OCD on chromosome 6q16

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.

We report a recurrent microdeletion syndrome causing mental retardation, epilepsy and variable facial and digital dysmorphisms. We describe nine affected individuals, including six probands: two with de novo deletions, two who inherited the deletion from an affected parent and two with unknown inheritance. The proximal breakpoint of the largest deletion is contiguous with breakpoint 3 (BP3) of the Prader-Willi and Angelman syndrome region, extending 3.95 Mb distally to BP5. A smaller 1.5-Mb deletion has a proximal breakpoint within the larger deletion (BP4) and shares the same distal BP5. This recurrent 1.5-Mb deletion contains six genes, including a candidate gene for epilepsy (CHRNA7) that is probably responsible for the observed seizure phenotype. The BP4-BP5 region undergoes frequent inversion, suggesting a possible link between this inversion polymorphism and recurrent deletion. The frequency of these microdeletions in mental retardation cases is approximately 0.3% (6/2,082 tested), a prevalence comparable to that of Williams, Angelman and Prader-Willi syndromes

The CAESAR Project for the ASI Space Weather Infrastructure

This paper presents the project Comprehensive spAce wEather Studies for the ASPIS prototype Realization (CAESAR), which aims to tackle the relevant aspects of Space Weather (SWE) science and develop a prototype of the scientific data centre for Space Weather of the Italian Space Agency (ASI) called ASPIS (ASI SPace Weather InfraStructure). To this end, CAESAR involves the majority of the SWE Italian community, bringing together 10 Italian institutions as partners, and a total of 92 researchers. The CAESAR approach encompasses the whole chain of phenomena from the Sun to Earth up to planetary environments in a multidisciplinary, comprehensive, and unprecedented way. Detailed and integrated studies are being performed on a number of well-observed "target SWE events", which exhibit noticeable SWE characteristics from several SWE perspectives. CAESAR investigations synergistically exploit a great variety of different products (datasets, codes, models), both long-standing and novel, that will be made available in the ASPIS prototype: this will consist of a relational database (DB), an interface, and a wiki-like documentation structure. The DB will be accessed through both a Web graphical interface and the ASPIS.py module, i.e., a library of functions in Python, which will be available for download and installation. The ASPIS prototype will unify multiple SWE resources through a flexible and adaptable architecture, and will integrate currently available international SWE assets to foster scientific studies and advance forecasting capabilities

The sequence and analysis of duplication-rich human chromosome 16

Human chromosome 16 features one of the highest levels of segmentally duplicated sequence among the human autosomes. We report here the 78,884,754 base pairs of finished chromosome 16 sequence, representing over 99.9% of its euchromatin. Manual annotation revealed 880 protein-coding genes confirmed by 1,670 aligned transcripts, 19 transfer RNA genes, 341 pseudogenes and three RNA pseudogenes. These genes include metallothionein, cadherin and iroquois gene families, as well as the disease genes for polycystic kidney disease and acute myelomonocytic leukaemia. Several large-scale structural polymorphisms spanning hundreds of kilobase pairs were identified and result in gene content differences among humans. Whereas the segmental duplications of chromosome 16 are enriched in the relatively gene-poor pericentromere of the p arm, some are involved in recent gene duplication and conversion events that are likely to have had an impact on the evolution of primates and human disease susceptibility.Joel Martin, Cliff Han, Laurie A. Gordon, Astrid Terry, Shyam Prabhakar, Xinwei She, Gary Xie, Uffe Hellsten, Yee Man Chan, Michael Altherr, Olivier Couronne, Andrea Aerts, Eva Bajorek, Stacey Black, Heather Blumer, Elbert Branscomb, Nancy C. Brown, William J. Bruno, Judith M. Buckingham, David F. Callen, Connie S. Campbell, Mary L. Campbell, Evelyn W. Campbell, Chenier Caoile, Jean F. Challacombe, Leslie A. Chasteen, Olga Chertkov, Han C. Chi, Mari Christensen, Lynn M. Clark, Judith D. Cohn, Mirian Denys, John C. Detter, Mark Dickson, Mira Dimitrijevic-Bussod, Julio Escobar, Joseph J. Fawcett, Dave Flowers, Dea Fotopulos, Tijana Glavina, Maria Gomez, Eidelyn Gonzales, David Goodstein, Lynne A. Goodwin, Deborah L. Grady, Igor Grigoriev, Matthew Groza, Nancy Hammon, Trevor Hawkins, Lauren Haydu, Carl E. Hildebrand, Wayne Huang, Sanjay Israni, Jamie Jett, Phillip B. Jewett, Kristen Kadner, Heather Kimball, Arthur Kobayashi, Marie-Claude Krawczyk, Tina Leyba, Jonathan L. Longmire, Frederick Lopez, Yunian Lou, Steve Lowry, Thom Ludeman, Chitra F. Manohar, Graham A. Mark, Kimberly L. McMurray, Linda J. Meincke, Jenna Morgan, Robert K. Moyzis, Mark O. Mundt, A. Christine Munk, Richard D. Nandkeshwar, Sam Pitluck, Martin Pollard Paul Predki, Beverly Parson-Quintana, Lucia Ramirez, Sam Rash, James Retterer, Darryl O. Ricke, Donna L. Robinson, Alex Rodriguez, Asaf Salamov, Elizabeth H. Saunders, Duncan Scott, Timothy Shough, Raymond L. Stallings, Malinda Stalvey, Robert D. Sutherland, Roxanne Tapia, Judith G. Tesmer, Nina Thayer, Linda S. Thompson, Hope Tice, David C. Torney, Mary Tran-Gyamfi, Ming Tsai, Levy E. Ulanovsky, Anna Ustaszewska, Nu Vo, P. Scott White, Albert L. Williams, Patricia L. Wills, Jung-Rung Wu, Kevin Wu, Joan Yang, Pieter DeJong, David Bruce, Norman A. Doggett, Larry Deaven, Jeremy Schmutz, Jane Grimwood, Paul Richardson, Daniel S. Rokhsar, Evan E. Eichler, Paul Gilna, Susan M. Lucas, Richard M. Myers, Edward M. Rubin and Len A. Pennacchi