14 results on '"Viscogliosi, Germana"'
Search Results
2. Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature.
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Trevisan, Valentina, Meroni, Anna, Leoni, Chiara, Sirchia, Fabio, Politano, Davide, Fiandrino, Giacomo, Giorgio, Valentina, Rigante, Donato, Limongelli, Domenico, Perri, Lucrezia, Sforza, Elisabetta, Leonardi, Francesca, Viscogliosi, Germana, Contaldo, Ilaria, Orteschi, Daniela, Proietti, Luca, Zampino, Giuseppe, and Onesimo, Roberta more...
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TRISOMY ,MOSAICISM ,DELAYED diagnosis ,GENETIC counseling ,NATURAL history ,HEART abnormalities - Abstract
Background: Among aneuploidies compatible with life, trisomy 22 mosaicism is extremely rare, and only about 25 postnatal and 18 prenatal cases have been described in the literature so far. The condition is mainly characterized by facial and body asymmetry, cardiac heart defects, facial dysmorphisms, growth failure, delayed puberty, and variable degrees of neurodevelopmental delay. Problem: The scattered information regarding the condition and the dearth of data on its natural history and developmental outcomes restrict genetic counseling, particularly in prenatal settings. Moreover, a prompt diagnosis is frequently delayed by the negative selection of trisomic cells in blood, with mosaicism percentage varying among tissues, which often entails the need for further testing. Purpose/topic: The aim of our work is to provide assistance in prenatal and postnatal genetic counseling by systematically delineating the current knowledge of the condition. This entails defining the prenatal and postnatal characteristics of the condition and presenting novel data from three cases, both prenatally and postnatally. Additionally, we report the developmental outcomes observed in two new patients. [ABSTRACT FROM AUTHOR] more...
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- 2024
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3. Work-Up and Treatment Strategies for Individuals with PIK3CA -Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association.
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Gazzin, Andrea, Leoni, Chiara, Viscogliosi, Germana, Borgini, Federica, Perri, Lucrezia, Iacoviello, Matteo, Piglionica, Marilidia, De Pellegrin, Maurizio, Ferrero, Giovanni Battista, Bartuli, Andrea, Zampino, Giuseppe, Buonuomo, Paola Sabrina, Resta, Nicoletta, and Mussa, Alessandro more...
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MOLECULAR diagnosis ,CELL cycle ,CELLULAR signal transduction ,GENETIC variation ,MEDICAL care ,RAILROAD signals - Abstract
PIK3CA-related disorders encompass many rare and ultra-rare conditions caused by somatic genetic variants that hyperactivate the PI3K-AKT-mTOR signaling pathway, which is essential for cell cycle control. PIK3CA-related disorders include PIK3CA-related overgrowth spectrum (PROS), PIK3CA-related vascular malformations and PIK3CA-related non-vascular lesions. Phenotypes are extremely heterogeneous and overlapping. Therefore, diagnosis and management frequently involve various health specialists. Given the rarity of these disorders and the limited number of centers offering optimal care, the Scientific Committee of the Italian Macrodactyly and PROS Association has proposed a revision of the most recent recommendations for the diagnosis, molecular testing, clinical management, follow-up, and treatment strategies. These recommendations give insight on molecular diagnosis, eligible samples, preferable sequencing, and validation methods and management of negative results. The purpose of this paper is to promote collaboration between health care centers and clinicians with a joint shared approach. Finally, we suggest the direction of present and future research studies, including new systemic target therapies, which are currently under evaluation in several clinical trials, such as specific inhibitors that can be employed to downregulate the signaling pathway. [ABSTRACT FROM AUTHOR] more...
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- 2023
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4. Systematic ophthalmologic evaluation in cardio‐facio‐cutaneous syndrome: A genotype–endophenotype correlation.
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Crincoli, Emanuele, Leoni, Chiara, Viscogliosi, Germana, Onesimo, Roberta, Mattei, Roberta, Tartaglia, Marco, Catania, Fiammetta, Rizzo, Stanislao, Zampino, Giuseppe, and Salerni, Annabella
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Cardio‐facio‐cutaneous syndrome (CFCS) is a rare genetic disorder belonging to the RASopathies, a group of developmental syndromes caused by upregulated RAS/MAPK signaling. Pathogenic variants affecting four genes, KRAS, BRAF, MAP2K1 and MAP2K2, encoding core signal transducers of the pathway, underlie the condition. Major clinical features include a distinctive facies, ectodermal and cardiac anomalies, reduced postnatal growth, intellectual disability, and musculoskeletal abnormalities. Similar to other RASopathies, reports of visual impairment, high refractive error, optic nerve pallor, and other ocular abnormalities have been anecdotally reported in the literature. The aim of our study is to report the prevalence of ophthalmologic abnormalities in a large monocentric cohort of individuals affected by CFCS and explore the occurrence of genotype–endophenotype correlations in this series of patients. We observed that BRAF mutations are associated to a higher prevalence of anisometropia >3D (11.8% vs. 0%) and high astigmatism (29.4% vs. 0%; both p < 0.001) while patients with mutations in other genes had a significantly higher prevalence of myopia >6 D (60% vs. 5.9%; p = 0.012). Pale optic disc was associated with higher prevalence of inferior oblique muscle (IO) overaction (33.3% vs. 0%) and lower prevalence of ptosis (0% vs. 11.8%; both p < 0.001). Combined exotropia, IO overaction and nystagmus were frequent in patients with pale optic nerve. Our findings might suggest the need for earlier ophthalmologic referral for CFCS patients due to high risk of amblyopia, especially those expressing BRAF mutations. [ABSTRACT FROM AUTHOR] more...
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- 2023
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5. The "FEEDS (FEeding Eating Deglutition Skills)" over Time Study in Cardiofaciocutaneous Syndrome.
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Onesimo, Roberta, Sforza, Elisabetta, Giorgio, Valentina, Viscogliosi, Germana, Kuczynska, Eliza Maria, Margiotta, Gaia, Perri, Lucrezia, Limongelli, Domenico, Proli, Francesco, De Rose, Cristina, Rigante, Donato, Cerchiari, Antonella, Tartaglia, Marco, Leoni, Chiara, and Zampino, Giuseppe more...
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DEGLUTITION ,CHILDREN'S hospitals ,DROOLING ,SENSORIMOTOR integration ,INGESTION ,SYNDROMES - Abstract
Feeding, eating and deglutition difficulties are key concerns in patients with cardiofaciocutaneous syndrome (CFCS). This study intends to quantify the development of feeding skills from birth to adulthood in patients with CFCS. Twenty-seven patients (eight males; mean age: 16.7 ± 8.3 years; median age: 15 years, age range: 1.5–38 years) with molecularly confirmed clinical diagnosis of CFCS were prospectively recruited from the Rare Disease Unit, Paediatrics Department, Fondazione Policlinico Agostino Gemelli-IRCCS, Rome, Italy, over a one-year period. Pathogenic variants along with key information regarding oro-motor features were collected. Sialorrhea was quantified using the Drooling Quotient 5. Feeding abilities were screened using the Italian version of the Montreal Children's Hospital Feeding Scale (I-MCH-FS). The oral sensory processing section of the Sensory Profile completed the assessment. Mild-to-profuse drooling was experienced by 25% of patients, and food taste selectivity was a constant during infancy (65%), with persistence even beyond adolescence. Nineteen percent of participants with long-term enteral feeding dependency had BRAF, KRAS and MAP2K1 mutations. These findings document that mealtime challenges in CFCS do not remain restricted only to the paediatric age, and that supportive care until adulthood plays a key role. [ABSTRACT FROM AUTHOR] more...
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- 2023
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6. Multidisciplinary Management of Costello Syndrome: Current Perspectives
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Leoni,Chiara, Viscogliosi,Germana, Tartaglia,Marco, Aoki,Yoko, and Zampino,Giuseppe
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Journal of Multidisciplinary Healthcare - Abstract
Chiara Leoni,1 Germana Viscogliosi,1 Marco Tartaglia,2 Yoko Aoki,3 Giuseppe Zampino1,4 1Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario âA. Gemelliâ IRCCS, Rome, Italy; 2Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy; 3Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan; 4Università Cattolica del Sacro Cuore, Rome, ItalyCorrespondence: Chiara Leoni, Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario âA. Gemelliâ IRCCS, Largo Gemelli 8, Rome, IT-00168, Italy, Tel +39-063381344, Fax +39-063383211, Email chiara.leoni@policlinicogemelli.itAbstract: Costello syndrome (CS) is a rare neurodevelopmental disorder caused by germline mutations in HRAS. It belongs among the RASopathies, a group of syndromes characterized by alterations in components of the RAS/MAPK signaling pathway and sharing overlapping phenotypes. Its typical features include a distinctive facial appearance, growth delay, intellectual disability, ectodermal, cardiac, and musculoskeletal abnormalities, and cancer predisposition. Due to the several comorbidities having a strong impact on the quality of life, a multidisciplinary team is essential in the management of such a condition from infancy to adult age, to promptly address any detected issue and to develop appropriate personalized follow-up protocols and treatment strategies. With the present paper we aim to highlight the core and ancillary medical disciplines involved in managing the health challenges characterizing CS from pediatric to adult age, according to literature and to our large clinical experience.Keywords: multidisciplinary team, personalized medicine, HRAS, Costello syndrome, RASopathies more...
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- 2022
7. Bone tissue homeostasis and risk of fractures in Costello syndrome: a four-year follow-up study
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Leoni, Chiara, Bisanti, C, Viscogliosi, Germana, Onesimo, Roberta, Massese, Miriam, Giorgio, Valentina, Corbo, Fabio, Acampora, A, Cipolla, Clelia, Flex, E, Dell’Atti, C, Rigante, Donato, Tartaglia, M, and Zampino, Giuseppe more...
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Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA ,Costello syndrome - Published
- 2022
8. Further case of enlarged spinal nerve roots in KRAS‐related Noonan syndrome.
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Leoni, Chiara, Viscogliosi, Germana, Onesimo, Roberta, Verdolotti, Tommaso, Biagini, Tommaso, Mazza, Tommaso, De Luca, Alessandro, Perri, Lucrezia, Trevisan, Valentina, Flex, Elisabetta, Tartaglia, Marco, and Zampino, Giuseppe more...
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NOONAN syndrome , *SPINAL nerve roots , *ANATOMICAL planes , *WECHSLER Adult Intelligence Scale , *HEART abnormalities - Abstract
Herein, we report on an individual with molecularly confirmed diagnosis of NS showing asymptomatic enlarged spinal nerve roots, which are distinctive features of neurofibromatosis type 1. 3 Ando Y, Sawada M, Kawakami T, Morita M, Aoki Y. A patient with Noonan syndrome with a KRAS mutation who presented severe nerve root hypertrophy. Noonan syndrome (NS) belongs to RASopathies, a family of disorders caused by unregulated signaling through the RAS-MAPK pathway. [Extracted from the article] more...
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- 2023
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9. Bone health in RASopathies.
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Stevenson, David A., Viscogliosi, Germana, and Leoni, Chiara
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- 2022
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10. Management of nutritional and gastrointestinal issues in RASopathies: A narrative review.
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Onesimo, Roberta, Giorgio, Valentina, Viscogliosi, Germana, Sforza, Elisabetta, Kuczynska, Eliza, Margiotta, Gaia, Iademarco, Mariella, Proli, Francesco, Rigante, Donato, Zampino, Giuseppe, and Leoni, Chiara more...
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- 2022
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11. Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision‐making.
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Leoni, Chiara, Paradiso, Filomena Valentina, Foschi, Nazario, Tedesco, Marta, Pierconti, Francesco, Silvaroli, Sara, Diego, Mario Di, Birritella, Lisa, Pantaleoni, Francesca, Rendeli, Claudia, Onesimo, Roberta, Viscogliosi, Germana, Bassi, Pierfrancesco, Nanni, Lorenzo, Genuardi, Maurizio, Tartaglia, Marco, and Zampino, Giuseppe more...
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BLADDER cancer ,PRECANCEROUS conditions ,MOLECULAR diagnosis ,SYNDROMES ,DECISION making ,DYSPLASIA - Abstract
Costello syndrome (CS) is a rare disorder affecting development and growth characterized by cancer predisposition and caused by mutations in HRAS proto‐oncogene. Somatic HRAS mutations drive bladder carcinogenesis. The aim of this study was to analyze prevalence and histological characterization of bladder cancer (BC) in a cohort of patients with CS to help clinicians plan effective management strategies. This study included 13 patients above 10 years of age with molecular diagnosis of CS. Screening cystoscopies (31 total procedures) were performed to exclude BC. Any lesion was analyzed through cold‐cup biopsy or trans‐urethral resection of the bladder. According to histology, patients were followed‐up with urinalysis and abdominal ultrasound yearly, and cystoscopies every 12–24 months. During study enrollment, bladder lesions (often multifocal) were detected in 11/13 patients. Histological analysis documented premalignant lesions in 90% of cystoscopies performed, epithelial dysplasia in 71%, and papillary urothelial neoplasm of low‐malignant potential in 19%. BC G1/low grade (Ta) were removed in 10%. Overall, 76% of patients showed a bladder lesion at first cystoscopy. The present findings document that individuals with CS aged 10 years and older have high prevalence of bladder lesions (premalignant/malignant), highlighting the importance of personalized screening protocols. [ABSTRACT FROM AUTHOR] more...
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- 2022
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12. Bone tissue homeostasis and risk of fractures in Costello syndrome: A 4‐year follow‐up study.
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Leoni, Chiara, Bisanti, Cristian, Viscogliosi, Germana, Onesimo, Roberta, Massese, Miriam, Giorgio, Valentina, Corbo, Fabio, Acampora, Anna, Cipolla, Clelia, Flex, Elisabetta, Dell'Atti, Claudia, Rigante, Donato, Tartaglia, Marco, and Zampino, Giuseppe more...
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Costello syndrome (CS) is a neurodevelopmental disorder with a distinctive musculoskeletal phenotype and reduced bone mineral density (BMD) caused by activating de novo mutations in the HRAS gene. Herein, we report the results of a prospective study evaluating the efficacy of a 4‐year vitamin D supplementation on BMD and bone health. A cohort of 16 individuals ranging from pediatric to adult age with molecularly confirmed CS underwent dosages of bone metabolism biomarkers (serum/urine) and dual‐energy X‐ray absorptiometry (DXA) scans to assess bone and body composition parameters. Results were compared to age‐matched control groups. At baseline evaluation, BMD was significantly reduced (p ≤ 0.05) compared to controls, as were the 25(OH)vitD levels. Following the 4‐year time interval, despite vitamin D supplementation therapy at adequate dosages, no significant improvement in BMD was observed. The present data confirm that 25(OH)vitD and BMD parameters are reduced in CS, and vitamin D supplementation is not sufficient to restore proper BMD values. Based on this evidence, routine monitoring of bone homeostasis to prevent bone deterioration and possible fractures in adult patients with CS is highly recommended. [ABSTRACT FROM AUTHOR] more...
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- 2022
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13. Characterization of bone homeostasis in individuals affected by cardio‐facio‐cutaneous syndrome.
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Leoni, Chiara, Viscogliosi, Germana, Onesimo, Roberta, Bisanti, Cristian, Massese, Miriam, Giorgio, Valentina, Corbo, Fabio, Tedesco, Marta, Acampora, Anna, Cipolla, Clelia, Dell'Atti, Claudia, Flex, Elisabetta, Gervasoni, Jacopo, Primiano, Aniello, Rigante, Donato, Tartaglia, Marco, and Zampino, Giuseppe more...
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Cardio‐facio‐cutaneous syndrome (CFCS) is a rare disorder characterized by distinctive craniofacial appearance, cardiac, neurologic, cutaneous, and musculoskeletal abnormalities. It is due to heterozygous mutations in BRAF, MAP2K1, MAP2K2, and KRAS genes, belonging to the RAS/MAPK pathway. The role of RAS signaling in bone homeostasis is highly recognized, but data on bone mineral density (BMD) in CFCS are lacking. In the present study we evaluated bone parameters, serum and urinary bone metabolites in 14 individuals with a molecularly confirmed diagnosis of CFCS. Bone assessment was performed through dual X‐ray absorptiometry (DXA); height‐adjusted results were compared to age‐ and sex‐matched controls. Blood and urinary bone metabolites were also analyzed and compared to the reference range. Despite vitamin D supplementation and almost normal bone metabolism biomarkers, CFCS patients showed significantly decreased absolute values of DXA‐assessed subtotal and lumbar BMD (p ≤ 0.05), compared to controls. BMD z‐scores and t‐scores (respectively collected for children and adults) were below the reference range in CFCS, while normal in healthy controls. These findings confirmed a reduction in BMD in CFCS and highlighted the importance of monitoring bone health in these affected individuals. [ABSTRACT FROM AUTHOR] more...
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- 2022
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14. Parenting Stress Index in Caregivers of Individuals With Noonan Syndrome.
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Perri L, Viscogliosi G, Trevisan V, Brogna C, Chieffo DPR, Contaldo I, Alfieri P, Lentini N, Pastorino R, Zampino G, and Leoni C
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Medical professionals frequently underestimate stress level of parents/caregivers of patients with rare disorders as RASopathies, the latter might experience elevated stress levels, with their own health frequently overlooked despite significant responsibilities and hurdles encountered. The aim of this study is to assess the stress experienced by parents of individuals with Noonan syndrome and related conditions. Forty-eight parents (20 fathers; 28 mothers), among the 31 recruited families, completed the Italian version of the Parenting Stress Index-Short Form. Our study shows abnormally elevated scores (≥ 85° percentile) in 35.4% of parents. Data retrieved from subscales reveal a perception of a difficult child in 25% of cases, a dysfunctional parental-child interaction in 20.8%, a general parental distress in 10.4% of cases, and an elevated overall stress in 18.8% of parents. Questionnaires as the Parenting Stress Index-Short Form are valuable tools to evaluate stress in parents/caregivers of children with RASopathies. Evaluation by professionals is fundamental to support parents and caregivers in managing stressors and to enhance their quality of life and relationships. To prevent stress escalation and parents' burnout, an early assessment to tailor a timely treatment should be introduced as soon as possible as good clinical practice., (© 2024 The Author(s). American Journal of Medical Genetics Part B: Neuropsychiatric Genetics published by Wiley Periodicals LLC.) more...
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- 2024
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