Author
Silvia Russo
Other affiliations: Örebro University
Bio: Silvia Russo is an academic researcher from University of Turin. The author has contributed to research in topics: Cornelia de Lange Syndrome & NIPBL. The author has an hindex of 34, co-authored 157 publications receiving 4229 citations. Previous affiliations of Silvia Russo include Örebro University.
Papers published on a yearly basis
Papers
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TL;DR: It is reported here that mutations in SMC1L1 (also known asSMC1), which encodes a different subunit of the cohesin complex, are responsible for CdLS in three male members of an affected family and in one sporadic case.
Abstract: Cornelia de Lange syndrome is a multisystem developmental disorder characterized by facial dysmorphisms, upper limb abnormalities, growth delay and cognitive retardation. Mutations in the NIPBL gene, a component of the cohesin complex, account for approximately half of the affected individuals. We report here that mutations in SMC1L1 (also known as SMC1), which encodes a different subunit of the cohesin complex, are responsible for CdLS in three male members of an affected family and in one sporadic case.
419 citations
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University of Paris1, Children's Hospital of Philadelphia2, University of Turin3, University of Birmingham4, HealthPartners5, University of Amsterdam6, University of Bologna7, Aix-Marseille University8, Vita-Salute San Raffaele University9, Qatar Airways10, Southmead Hospital11, National Health Service12, Hannover Medical School13, Boston Children's Hospital14, Tartu University Hospital15, University of Strasbourg16, Great Ormond Street Hospital17, Medical University of Warsaw18, St George's, University of London19, Copenhagen University Hospital20, University of Mainz21, RWTH Aachen University22, University of Southampton23, Seconda Università degli Studi di Napoli24, National Institute for Health Research25
TL;DR: An international consensus group agreed upon 72 recommendations for the clinical and molecular diagnosis and management of Beckwith–Wiedemann syndrome, including comprehensive protocols for the molecular investigation, care and treatment of patients from the prenatal period to adulthood.
Abstract: This Consensus Statement was organized by the European Network of Human Congenital Imprinting Disorders (EUCIDnet) with financial support from European Cooperation in Science and Technology (COST; BM1208) Newlife the Charity for Disabled Children, the European Society of Pediatric Endocrinology (ESPE) and the Societe Francaise de lutte contre les Cancers et leucemies de l'enfant et de l'adolescent (SFCE) provided funding for the consensus meeting The European Society of Pediatric Nephrology (ESPN) provided support for the meeting Individual authors would like to thank the following funders for research support: Alex's Lemonade Stand Foundation (JMK); Bundesministerium fur Bildung und Forschung (BMBF) (number 01GM1513C) (DP); Child Growth Foundation (KT-B); European Union FP7 Innovative Training Network (ITN) Ingenium N 290123 (YLeB, AR, IN, ERM); FIS (grant PI15/01481) (PL, JT); Fondation de Recherche Medicale (YLeB); Margaret Q Landenberger Foundation (JMK); MIUR PRIN 2015 JHLY35 (AR, GBF, SRu); MOH Grants to Istituto Auxologico Italiano (grant: RC 08C502_2015) (SRu); US National Institutes of Health (grant K08CA193915) (JMK); UK National Institute for Health Research (NIHR) Rare Diseases Translational Research Collaboration (ACF); St Baldrick's Scholar Award (JMK); The Estonian Research Council (grant PUT355) (KO); Universite P et M Curie, Institut National de la Sante Et de la Recherche Medicale (YLB); Telethon-Italia GGP15131 and AIRC IG18671 (AR); Wellcome Trust (MDK); European Research Council (ERM); and NIHR Senior Investigator Award (ERM) The University of Cambridge has received salary support in respect of ERM from the National Health Service (NHS) in the East of England through the Clinical Academic Reserve The views expressed are those of the authors and not necessarily those of the NHS or UK Department of Health No funding was received from pharmaceutical companies
320 citations
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London North West Healthcare NHS Trust1, French Institute of Health and Medical Research2, University of Paris3, University of Southampton4, University Hospital Southampton NHS Foundation Trust5, Cork University Hospital6, University of São Paulo7, Boston Children's Hospital8, University of Birmingham9, HealthPartners10, RWTH Aachen University11, Children's Hospital of Philadelphia12, Copenhagen University Hospital13, Erasmus University Medical Center14, Istituto Giannina Gaslini15, Otto-von-Guericke University Magdeburg16, University College London17, Hamamatsu University School of Medicine18, University of Malta19, Mater Dei Hospital20, The Cyprus Institute of Neurology and Genetics21, Icahn School of Medicine at Mount Sinai22
TL;DR: The consensus statement as discussed by the authors summarizes recommendations for clinical diagnosis, investigation and management of patients with Silver-Russell syndrome (SRS), an imprinting disorder that causes prenatal and postnatal growth retardation.
Abstract: This Consensus Statement summarizes recommendations for clinical diagnosis, investigation and management of patients with Silver-Russell syndrome (SRS), an imprinting disorder that causes prenatal and postnatal growth retardation. Considerable overlap exists between the care of individuals born small for gestational age and those with SRS. However, many specific management issues exist and evidence from controlled trials remains limited. SRS is primarily a clinical diagnosis; however, molecular testing enables confirmation of the clinical diagnosis and defines the subtype. A 'normal' result from a molecular test does not exclude the diagnosis of SRS. The management of children with SRS requires an experienced, multidisciplinary approach. Specific issues include growth failure, severe feeding difficulties, gastrointestinal problems, hypoglycaemia, body asymmetry, scoliosis, motor and speech delay and psychosocial challenges. An early emphasis on adequate nutritional status is important, with awareness that rapid postnatal weight gain might lead to subsequent increased risk of metabolic disorders. The benefits of treating patients with SRS with growth hormone include improved body composition, motor development and appetite, reduced risk of hypoglycaemia and increased height. Clinicians should be aware of possible premature adrenarche, fairly early and rapid central puberty and insulin resistance. Treatment with gonadotropin-releasing hormone analogues can delay progression of central puberty and preserve adult height potential. Long-term follow up is essential to determine the natural history and optimal management in adulthood.
291 citations
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Vita-Salute San Raffaele University1, University of Milan2, Max Planck Society3, Boston Children's Hospital4, University of Adelaide5, Katholieke Universiteit Leuven6, French Institute of Health and Medical Research7, Centre national de la recherche scientifique8, Radboud University Nijmegen Medical Centre9
TL;DR: It is shown that RAB39B, a novel RAB GTPase of unknown function, is a neuronal-specific protein that is localized to the Golgi compartment and its downregulation leads to an alteration in the number and morphology of neurite growth cones and a significant reduction in presynaptic buttons, suggesting that R AB39B is required for synapse formation and maintenance.
Abstract: Human Mental Retardation (MR) is a common and highly heterogeneous pediatric disorder affecting around 3% of the general population; at least 215 X-linked MR (XLMR) conditions have been described, and mutations have been identified in 83 different genes, encoding proteins with a variety of function, such as chromatin remodeling, synaptic function, and intracellular trafficking. The small GTPases of the RAB family, which play an essential role in intracellular vesicular trafficking, have been shown to be involved in MR. We report here the identification of mutations in the small GTPase RAB39B gene in two male patients. One mutation in family X (D-23) introduced a stop codon seven amino acids after the start codon (c.21C > A; p.Y7X). A second mutation, in the MRX72 family, altered the 5' splice site (c.215+1G > A) and normal splicing. Neither instance produced a protein. Mutations segregate with the disease in the families, and in some family members intellectual disabilities were associated with autism spectrum disorder, epileptic seizures, and macrocephaly. We show that RAB39B, a novel RAB GTPase of unknown function, is a neuronal-specific protein that is localized to the Golgi compartment. Its downregulation leads to an alteration in the number and morphology of neurite growth cones and a significant reduction in presynaptic buttons, suggesting that RAB39B is required for synapse formation and maintenance. Our results demonstrate developmental and functional neuronal alteration as a consequence of downregulation of RAB39B and emphasize the critical role of vesicular trafficking in the development of neurons and human intellectual abilities.
216 citations
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TL;DR: The hypotheses that trans-acting factors affect the somatic maintenance of imprinting at multiple maternally methylated loci are supported and that the clinical presentation of these complex cases may reflect the loci and tissues affected with the epigenetic abnormalities.
Abstract: Genomic imprinting is an epigenetic phenomenon restricting gene expression in a manner dependent on parent of origin. Imprinted gene products are critical regulators of growth and development, and imprinting disorders are associated with both genetic and epigenetic mutations, including disruption of DNA methylation within the imprinting control regions (ICRs) of these genes. It was recently reported that some patients with imprinting disorders have a more generalised imprinting defect, with hypomethylation at a range of maternally methylated ICRs. We report a cohort of 149 patients with a clinical diagnosis of Beckwith-Wiedemann syndrome (BWS), including 81 with maternal hypomethylation of the KCNQ1OT1 ICR. Methylation analysis of 11 ICRs in these patients showed that hypomethylation affecting multiple imprinted loci was restricted to 17 patients with hypomethylation of the KCNQ1OT1 ICR, and involved only maternally methylated loci. Both partial and complete hypomethylation was demonstrated in these cases, suggesting a possible postzygotic origin of a mosaic imprinting error. Some ICRs, including the PLAGL1 and GNAS/NESPAS ICRs implicated in the aetiology of transient neonatal diabetes and pseudohypoparathyroidism type 1b, respectively, were more frequently affected than others. Although we did not find any evidence for mutation of the candidate gene DNMT3L, these results support the hypotheses that trans-acting factors affect the somatic maintenance of imprinting at multiple maternally methylated loci and that the clinical presentation of these complex cases may reflect the loci and tissues affected with the epigenetic abnormalities.
206 citations
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TL;DR: As an example of how the current "war on terrorism" could generate a durable civic renewal, Putnam points to the burst in civic practices that occurred during and after World War II, which he says "permanently marked" the generation that lived through it and had a "terrific effect on American public life over the last half-century."
Abstract: The present historical moment may seem a particularly inopportune time to review Bowling Alone, Robert Putnam's latest exploration of civic decline in America. After all, the outpouring of volunteerism, solidarity, patriotism, and self-sacrifice displayed by Americans in the wake of the September 11 terrorist attacks appears to fly in the face of Putnam's central argument: that \"social capital\" -defined as \"social networks and the norms of reciprocity and trustworthiness that arise from them\" (p. 19)'has declined to dangerously low levels in America over the last three decades. However, Putnam is not fazed in the least by the recent effusion of solidarity. Quite the contrary, he sees in it the potential to \"reverse what has been a 30to 40-year steady decline in most measures of connectedness or community.\"' As an example of how the current \"war on terrorism\" could generate a durable civic renewal, Putnam points to the burst in civic practices that occurred during and after World War II, which he says \"permanently marked\" the generation that lived through it and had a \"terrific effect on American public life over the last half-century.\" 3 If Americans can follow this example and channel their current civic
5,309 citations
01 Jan 2009
TL;DR: Physicians should consider modification of immunosuppressive regimens to decrease the risk of PTD in high-risk transplant recipients and Randomized trials are needed to evaluate the use of oral glucose-lowering agents in transplant recipients.
Abstract: OBJECTIVE — To systematically review the incidence of posttransplantation diabetes (PTD), risk factors for its development, prognostic implications, and optimal management. RESEARCH DESIGN AND METHODS — We searched databases (MEDLINE, EMBASE, the Cochrane Library, and others) from inception to September 2000, reviewed bibliographies in reports retrieved, contacted transplantation experts, and reviewed specialty journals. Two reviewers independently determined report inclusion (original studies, in all languages, of PTD in adults with no history of diabetes before transplantation), assessed study methods, and extracted data using a standardized form. Meta-regression was used to explain between-study differences in incidence. RESULTS — Nineteen studies with 3,611 patients were included. The 12-month cumulative incidence of PTD is lower (10% in most studies) than it was 3 decades ago. The type of immunosuppression explained 74% of the variability in incidence (P 0.0004). Risk factors were patient age, nonwhite ethnicity, glucocorticoid treatment for rejection, and immunosuppression with high-dose cyclosporine and tacrolimus. PTD was associated with decreased graft and patient survival in earlier studies; later studies showed improved outcomes. Randomized trials of treatment regimens have not been conducted. CONCLUSIONS — Physicians should consider modification of immunosuppressive regimens to decrease the risk of PTD in high-risk transplant recipients. Randomized trials are needed to evaluate the use of oral glucose-lowering agents in transplant recipients, paying particular attention to interactions with immunosuppressive drugs. Diabetes Care 25:583–592, 2002
3,716 citations
01 Jan 2016
TL;DR: The applied missing data analysis is universally compatible with any devices to read and is available in the digital library an online access to it is set as public so you can download it instantly.
Abstract: Thank you for downloading applied missing data analysis. Maybe you have knowledge that, people have look hundreds times for their favorite readings like this applied missing data analysis, but end up in infectious downloads. Rather than enjoying a good book with a cup of tea in the afternoon, instead they juggled with some malicious bugs inside their laptop. applied missing data analysis is available in our digital library an online access to it is set as public so you can download it instantly. Our digital library hosts in multiple locations, allowing you to get the most less latency time to download any of our books like this one. Merely said, the applied missing data analysis is universally compatible with any devices to read.
1,924 citations
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TL;DR: The Brush Foundation studies on human growth and development, begun in 1931 and terminated in 1942, have been intensively reviewed and studied by Dr. Greulich and Miss Pyle in the formulation of this Radiographic Atlas of Skeletal Development of the Hand and Wrist.
Abstract: The Brush Foundation studies on human growth and development, begun in 1931 and terminated in 1942, have been intensively reviewed and studied by Dr Greulich and Miss Pyle in the formulation of this Radiographic Atlas of Skeletal Development of the Hand and Wrist Serial radiographs of from 2 to 20 hand-films made at successive examinations of each of 1000 boys and girls made up the radiographic material Standards were selected that were judged to be the most representative of the central tendency or anatomic mode of each chronologic age group from birth through 18 years
1,547 citations
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Karlstad University1, Dresden University of Technology2, Karolinska University Hospital3, Mental Health Services4, Phillips University5, University of Florence6, Karolinska Institutet7, John Radcliffe Hospital8, London School of Economics and Political Science9, King's College London10, Lund University11, Harvard University12, University of Basel13, Norwegian University of Science and Technology14, University of Zurich15, Umeå University16, University of Cambridge17, University of Lausanne18, University of Sassari19, European Monitoring Centre for Drugs and Drug Addiction20, Aalborg University21, Cliniques Universitaires Saint-Luc22, Maastricht University Medical Centre23, Radboud University Nijmegen24, Stockholm School of Economics25
TL;DR: The present report presents much improved cost estimates for the total cost of disorders of the brain in Europe in 2010, covering 19 major groups of disorders, 7 more than previously, of an increased range of age groups and more cost items.
1,325 citations