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Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status.

Chiara Leoni, Domenico Marco Romeo, Michele Pelliccioni, Mariangela Di Già, Roberta Onesimo, Valentina Giorgio, Elisabetta Flex, Marta Tedesco, Marco Tartaglia, Donato Rigante, Antonio Valassina, Giuseppe Zampino,

<h4>Background</h4>Costello syndrome (CS) and cardio-facio-cutaneous syndrome (CFCS) belong to the RASopathies, a group of neurodevelopmental disorders with skeletal anomalies. Due to their rarity, the characterization of the musculo-skeletal phenotype in both disorders has been poorly characterized.<h4>Patients and methods</h4>Herein we reported data on orthopedic findings and functional status of a large ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2021, 16(1):43]

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Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status

Chiara Leoni, Domenico Romeo, Pelliccioni Michele, Di Già Mariangela, Onesimo Roberta, Giorgio Valentina, Flex Elisabetta, Marta Tedesco, Marco Tartaglia, Donato Rigante, Antonio Valassina, Giuseppe Zampino,

<h4>Background: </h4> Costello syndrome (CS) and cardio-facio-cutaneous syndrome (CFCS) belong to the RASopathies, a group of neurodevelopmental disorders with skeletal anomalies. Due to their rarity, the characterization of the musculo-skeletal phenotype in both disorders has been poorly characterized. Patients and methods Herein we reported data on orthopedic findings and functional ... Read more >>

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Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.

Maria Giovanna Tedesco, Fortunato Lonardo, Caterina Ceccarini, Carla Cesarano, Maria Cristina Digilio, Monia Magliozzi, Daniela Rogaia, Amedea Mencarelli, Chiara Leoni, Carmelo Piscopo, Valentina Imperatore, Maria Teresa Falco, Paolo Fontana, Anna Maria Nardone, Antonio Novelli, Stefania Troiani, Marco Seri, Paolo Prontera,

Feingold Syndrome type 1 (FS1) is an autosomal dominant disorder due to a loss of function mutations in the MYCN gene. FS1 is generally clinically characterized by mild learning disability, microcephaly, short palpebral fissures, short stature, brachymesophalangy, hypoplastic thumbs, as well as syndactyly of toes, variably associated with organ abnormalities, ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2021, :]

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Rare and de novo coding variants in chromodomain genes in Chiari I malformation.

Brooke Sadler, Jackson Wilborn, Lilian Antunes, Timothy Kuensting, Andrew T Hale, Stephen R Gannon, Kevin McCall, Carlos Cruchaga, Matthew Harms, Norine Voisin, Alexandre Reymond, Gerarda Cappuccio, Nicola Brunetti-Pierri, Marco Tartaglia, Marcello Niceta, Chiara Leoni, Giuseppe Zampino, Allison Ashley-Koch, Aintzane Urbizu, Melanie E Garrett, Karen Soldano, Alfons Macaya, Donald Conrad, Jennifer Strahle, Matthew B Dobbs, Tychele N Turner, Chevis N Shannon, Douglas Brockmeyer, David D Limbrick, Christina A Gurnett, Gabe Haller,

Chiari I malformation (CM1), the displacement of the cerebellum through the foramen magnum into the spinal canal, is one of the most common pediatric neurological conditions. Individuals with CM1 can present with neurological symptoms, including severe headaches and sensory or motor deficits, often as a consequence of brainstem compression or ... Read more >>

Am J Hum Genet (American journal of human genetics)
[2021, 108(1):100-114]

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Basedow-Graves' disease in a pediatric patient with Sticlker syndrome, a new endocrine finding to improve personalized treatment.

Roberta Onesimo, Cristina De Rose, Clelia Cipolla, Silvia Della Casa, Chiara Leoni, Annabella Salerni, Daniela Ricci, Giuseppe Zampino,

<h4>Background</h4>Stickler syndrome is a connective tissue disorder with predominantly autosomal dominant inheritance, with ocular, auditory and joint involvement. Thyroid dysfunction was not described as part of alterations in Stickler syndrome and in particular, the association between Stickler's syndrome and Graves' disease has never been previously reported in literature. Moreover, the ... Read more >>

Ital J Pediatr (Italian journal of pediatrics)
[2020, 46(1):178]

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Efficacy of β-lactam/β-lactamase inhibitors to treat extended-spectrum beta-lactamase-producing Enterobacterales bacteremia secondary to urinary tract infection in kidney transplant recipients (INCREMENT-SOT Project).

Ligia C Pierrotti, Elena Pérez-Nadales, Mario Fernández-Ruiz, Belén Gutiérrez-Gutiérrez, Ban Hock Tan, Jordi Carratalà, Isabel Oriol, Mical Paul, Noa Cohen-Sinai, Francisco López-Medrano, Rafael San-Juan, Miguel Montejo, Maristela P Freire, Elisa Cordero, Miruna D David, Esperanza Merino, Seema Mehta Steinke, Paolo A Grossi, Ángela Cano, Elena M Seminari, Maricela Valerio, Filiz Gunseren, Meenakshi Rana, Alessandra Mularoni, Pilar Martín-Dávila, Christian van Delden, Melike Hamiyet Demirkaya, Zeliha Koçak Tufan, Belén Loeches, Ranganathan N Iyer, Fabio Soldani, Britt-Marie Eriksson, Benoît Pilmis, Marco Rizzi, Julien Coussement, Wanessa T Clemente, Emmanuel Roilides, Álvaro Pascual, Luis Martínez-Martínez, Jesús Rodríguez-Baño, Julian Torre-Cisneros, José María Aguado, ,

<h4>Background</h4>Whether active therapy with β-lactam/β-lactamase inhibitors (BLBLI) is as affective as carbapenems for extended-spectrum β-lactamase-producing Enterobacterales (ESBL-E) bloodstream infection (BSI) secondary to urinary tract infection (UTI) in kidney transplant recipients (KTRs) remains unclear.<h4>Methods</h4>We retrospectively evaluated 306 KTR admitted to 30 centers from January 2014 to October 2016. Therapeutic failure (lack ... Read more >>

Transpl Infect Dis (Transplant infectious disease : an official journal of the Transplantation Society)
[2020, :e13520]

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Screening program for latent tuberculosis infection in asylum seekers - a single center experience in Pavia, Italy.

C Grecchi, C Sarda, T Manciulli, L Scudeller, C Leoni, B Mariani, P Cambieri, F E Chinellato, I M G Aquino, P Marone, C Ancarani, L Astroni, A Muzzi, E Brunetti, S Novati,

<h4>Background</h4>The management of Latent Tuberculosis Infection is crucial in fighting Tuberculosis worldwide, and particularly in low incidence European Countries. While guidelines for the management of Tuberculosis in newly arrived immigrants have been issued by the European Center for Disease Control and Prevention and by the National Health Authorities in Italy, ... Read more >>

Ann Ig (Annali di igiene : medicina preventiva e di comunita)
[2020, 32(6):682-688]

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Hormone therapy in female-to-male transgender patients: searching for a lifelong balance.

Luca Maria Schönauer, Miriam Dellino, Matteo Loverro, Carmine Carriero, Teresa Capursi, Claudia Leoni, Giuseppe Loverro, Edoardo Di Naro,

<h4>Background</h4>Reassignment of a female-to-male (FtM) person requires gender-affirming, androgenic hormonal treatment that is planned to induce appropriate structural changes. This therapy must be prolonged long term, even after the sex reassignment surgery (SRS). The purpose of this study is to evaluate the effects of hormone therapy with testosterone in FtM ... Read more >>

Hormones (Athens) (Hormones (Athens, Greece))
[2020, :]

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Impact of Costello syndrome on growth patterns.

Chiara Leoni, Valentina Giorgio, Roberta Onesimo, Eliza Kuczynska, Giuseppe Zampino,

Am J Med Genet A (American journal of medical genetics. Part A)
[2020, 182(11):2797-2799]

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Immunoglobulin deficiency associated with a MAP2K1-related mutation causing cardio-facio-cutaneous syndrome.

Chiara Leoni, Marta Tedesco, Roberta Onesimo, Valentina Giorgio, Donato Rigante, Giuseppe Zampino,

Immunol Lett (Immunology letters)
[2020, 227:79-80]

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Melanocytic nevi in RASopathies: insights on dermatological diagnostic handles.

C Leoni, C Guerriero, R Onesimo, V Coco, C Di Ruscio, A Acampora, I Esposito, A Romano, M Tartaglia, M Genuardi, G Zampino,

J Eur Acad Dermatol Venereol (Journal of the European Academy of Dermatology and Venereology : JEADV)
[2020, :]

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Embryopathy Following Maternal Biliopancreatic Diversion: Is Bariatric Surgery Really Safe?

Roberta Onesimo, Francesco Proli, Chiara Leoni, Ilaria Contaldo, Annabella Salerni, Guido Conti, Marco Tartaglia, Giuseppe Zampino,

Pregnancy after bariatric surgery is usually considered safe. Recently, a few studies reported that bariatric surgery represents a risk factor for birth defects. A case series of six patients, born from women who had undergone biliopancreatic diversion, is reported. The clinical pattern was characterized by psychomotor development delay (100%), microphthalmia ... Read more >>

Obes Surg (Obesity surgery)
[2021, 31(1):445-450]

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Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants.

Fanny Kortüm, Marcello Niceta, Monia Magliozzi, Katja Dumic Kubat, Stephen P Robertson, Angelica Moresco, Maria Lisa Dentici, Anwar Baban, Chiara Leoni, Roberta Onesimo, Maria Gabriela Obregon, Maria Cristina Digilio, Giuseppe Zampino, Antonio Novelli, Marco Tartaglia, Kerstin Kutsche,

Cantú syndrome (CS) is a rare developmental disorder characterized by a coarse facial appearance, macrocephaly, hypertrichosis, skeletal and cardiovascular anomalies and caused by heterozygous gain-of-function variants in ABCC9 and KCNJ8, encoding subunits of heterooctameric ATP-sensitive potassium (KATP) channels. CS shows considerable clinical overlap with Zimmermann-Laband syndrome (ZLS), a rare condition ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, 63(9):103996]

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The dark side of COVID-19: The need of integrated medicine for children with special care needs.

Chiara Leoni, Valentina Giorgio, Roberta Onesimo, Luigi Tarani, Mauro Celli, Angelo Selicorni, Giuseppe Zampino,

Am J Med Genet A (American journal of medical genetics. Part A)
[2020, 182(8):1988-1989]

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Treatment of Dystonia Using Trihexyphenidyl in Costello Syndrome.

Domenico M Romeo, Alessandro Specchia, Alfonso Fasano, Chiara Leoni, Roberta Onesimo, Claudia Brogna, Stefania Veltri, Giuseppe Zampino,

Costello syndrome (CS), a rare syndrome with multisystemic involvement inherited as a dominant trait, is characterized by developmental delay, coarse facial appearance, cardiac defects including hypertrophic cardiomyopathy, skin abnormalities, brain complications, and a predisposition to certain malignancies. The musculoskeletal system is particularly affected in CS, with peculiar orthopedic anomalies that ... Read more >>

Brain Sci (Brain sciences)
[2020, 10(7):]

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Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant).

Donato Rigante, Emilia Stellacci, Chiara Leoni, Roberta Onesimo, Francesca Clementina Radio, Simone Pizzi, Valentina Giorgio, Assunta Tornesello, Marco Tartaglia, Giuseppe Zampino,

Immunol Lett (Immunology letters)
[2020, 225:64-65]

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A Differential Metabarcoding Approach to Describe Taxonomy Profiles of Bacteria and Archaea in the Saltern of Margherita di Savoia (Italy).

Claudia Leoni, Mariateresa Volpicella, Bruno Fosso, Caterina Manzari, Elisabetta Piancone, Maria C G Dileo, Erika Arcadi, Michail Yakimov, Graziano Pesole, Luigi R Ceci,

Microorganisms inhabiting saline environments are an interesting ecological model for the study of the adaptation of organisms to extreme living conditions and constitute a precious resource of enzymes and bioproducts for biotechnological applications. We analyzed the microbial communities in nine ponds with increasing salt concentrations (salinity range 4.9-36.0%) of the ... Read more >>

Microorganisms (Microorganisms)
[2020, 8(6):]

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One case of anetoderma post-vitamin K1 injection in a newborn.

Ilaria Esposito, Cristina Guerriero, Chiara Leoni, Roberta Onesimo, Giuseppe Zampino, Ketty Peris,

Int J Dermatol (International journal of dermatology)
[2020, 59(5):e168-e169]

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Two case reports of fetal alcohol syndrome: broadening into the spectrum of cardiac disease to personalize and to improve clinical assessment.

R Onesimo, C De Rose, A B Delogu, A Battista, C Leoni, S Veltri, G De Rosa, G Zampino,

<h4>Background</h4>Fetal alcohol spectrum disorder (FASD) refers to a broad spectrum of disabilities, in infants and children, resulting from moderate to excessive prenatal alcohol exposure. Significant associations with alcohol exposure were already reported with congenital structural heart defects: i.e. ventricular septal defects, atrial septal defects, conotruncal defects.<h4>Cases presentation</h4>We describe two cases ... Read more >>

Ital J Pediatr (Italian journal of pediatrics)
[2019, 45(1):167]

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It Is Feasible to Produce Olive Oil in Temperate Humid Climate Regions.

Paula Conde-Innamorato, Mercedes Arias-Sibillotte, Juan José Villamil, Juliana Bruzzone, Yesica Bernaschina, Virginia Ferrari, Roberto Zoppolo, José Villamil, Carolina Leoni,

Worldwide olive industry has expanded into new climatic regions outside the Mediterranean basin due to an increase in extra virgin olive oil demand posing new challenges. This is the case of Uruguay, South America, where the olive crop area reached 10,000 hectares in the last 15 years and is intended ... Read more >>

Front Plant Sci (Frontiers in plant science)
[2019, 10:1544]

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Human Endometrial Microbiota at Term of Normal Pregnancies.

Claudia Leoni, Oronzo Ceci, Caterina Manzari, Bruno Fosso, Mariateresa Volpicella, Alessandra Ferrari, Paola Fiorella, Graziano Pesole, Ettore Cicinelli, Luigi Ruggiero Ceci,

The endometrium is a challenging site for metagenomic analysis due to difficulties in obtaining uncontaminated samples and the limited abundance of the bacterial population. Indeed, solid correlations between endometrial physio-pathologic conditions and bacteria compositions have not yet been firmly established. Nevertheless, the study of the endometrial microbiota is of great ... Read more >>

Genes (Basel) (Genes)
[2019, 10(12):]

Cited: 4 times

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Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG syndrome.

Paolo Alfieri, Francesco Demaria, Serena Licchelli, Ornella Santonastaso, Cristina Caciolo, Maria Cristina Digilio, Lorenzo Sinibaldi, Chiara Leoni, Maria Gnazzo, Marco Tartaglia, Patrizio Pasqualetti, Stefano Vicari,

KBG syndrome is a rare multisystem developmental disorder caused by ankyrin repeat domain-containing protein 11 (ANKRD11) gene haploinsufficiency, resulting from either intragenic loss-of-function mutations or microdeletions encompassing the gene. Concerning the behavioral phenotype, a limited amount of research has been focused on attention deficit and hyperactivity disorder, autistic-like features, anxiety ... Read more >>

Brain Sci (Brain sciences)
[2019, 9(11):]

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Skeletal abnormalities are common features in Aymé-Gripp syndrome.

Marcello Niceta, Domenico Barbuti, Neerja Gupta, Carlos Ruggiero, Eduardo F Tizzano, Luitgard Graul-Neumann, Sabina Barresi, Gen Nishimura, Irene Valenzuela, Fermina López-Grondona, Paula Fernandez-Alvarez, Chiara Leoni, Christiane Zweier, Andreas Tzschach, Emilia Stellacci, Andrea Del Fattore, Bruno Dallapiccola, Giuseppe Zampino, Marco Tartaglia,

Aymé-Gripp syndrome (AYGRPS) is a recognizable condition caused by a restricted spectrum of dominantly acting missense mutations affecting the transcription factor MAF. Major clinical features of AYGRPS include congenital cataracts, sensorineural hearing loss, intellectual disability, and a distinctive flat facial appearance. Skeletal abnormalities have also been observed in affected individuals, ... Read more >>

Clin Genet (Clinical genetics)
[2020, 97(2):362-369]

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Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay.

Marcella Zollino, Carlotta Ranieri, Valentina Grossi, Chiara Leoni, Serena Lattante, Daniela Mazzà, Cristiano Simone, Nicoletta Resta,

<h4>Background</h4>Activating pathogenic variants in PIK3CA gene usually occur at a mosaic status and underlie a variety of segmental overgrowth phenotypes. Germline variants in PIK3CA have been rarely reported, described in a total of 12 patients with macrocephaly to date. Clinical and prognostic features of these germline variants have not been ... Read more >>

Mol Genet Genomic Med (Molecular genetics & genomic medicine)
[2019, 7(8):e845]

Cited: 1 time

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Chitinases as Food Allergens.

Claudia Leoni, Mariateresa Volpicella, Maria Dileo, Bruno A R Gattulli, Luigi R Ceci,

Food allergies originate from adverse immune reactions to some food components. Ingestion of food allergens can cause effects of varying severity, from mild itching to severe anaphylaxis reactions. Currently there are no clues to predict the allergenic potency of a molecule, nor are cures for food allergies available. Cutting-edge research ... Read more >>

Molecules (Molecules (Basel, Switzerland))
[2019, 24(11):]

Cited: 2 times

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