Lorenzo Ferri

Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burden

Sabrina Malvagia, Marta Daniotti, Rodolfo Tonin, Lorenzo Ferri et autres

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PROJETO VIDA & CARREIRA: UM NOVO OLHAR PARA VIDA E CARREIRA DE PACIENTES COM CÂNCER NO SANGUE E FAMILIARES - RELATO DE EXPERIÊNCIA

Lorenzo Ferri

Após o diagnóstico de câncer no sangue, pacientes e familiares enfrentam diversas rupturas e mudanças. Uma das rupturas é na esfera do trabalho. Há perda de alguns alicerces e dores multidimensionais como: emocional, financeira e social. Diante disso, surgem estratégias de suporte …

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VALUE Trial: Phase 1 safety and feasibility study of same-day discharge after video-assisted thoracoscopic surgery lung resection

Lyndon C Walsh, Merav Rokah, Joseph Seitlinger, Filippo Tommaso Gallina et autres

ca (code pays fourni par la source)

Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axes

Giulia Del Medico, Lorenzo Ferri, Elena Procopio, Giosuè Annibalini et autres

Congenital disorders of glycosylation (CDG) are a heterogeneous group of inborn errors of metabolism caused by impaired protein glycosylation. Among these, PMM2-CDG, caused by defective phosphomannomutase 2 activity and affecting protein N-glycosylation, is the most prevalent. As glycoproteins are involved in almost …

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High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions

Federica Feo, Luciana Tramacere, Silvia Ramat, Alessandra Govoni et autres

BACKGROUND AND PURPOSE: Galactocerebrosidase (GALC) deficiency causes Krabbe disease, a severe lysosomal neurodegenerative condition. Emerging evidence suggests that heterozygous GALC variants may contribute to multiple sclerosis, attention-deficit hyperactivity disorder, and synucleinopathies. We aim to investigate the potential association between GALC heterozygous variants …

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Implementation of enhanced recovery after surgery program for lung resection

Merav Rokah, Lorenzo Ferri

Abstract: Enhanced recovery after surgery (ERAS) is an evidence-based multimodal protocol of perioperative care. ERAS pathways aim to encompass multiple aspects of the patient trajectory, from referral to recovery. In recent years many ERAS protocols in lung surgery have been established and …

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8015 Growth Hormone Axis Dysfunction in PMM2-CDG: Exploring the Role of Dynamic Tests for the Management of Short Stature in Two Pediatric Cases

Giulia Del Medico, Elena Procopio, Lorenzo Ferri, Alessandro Barbato et autres

Abstract Disclosure: G. Del Medico: None. E. Procopio: None. L. Ferri: None. A. Barbato: None. A. Morrone: None. S. Stagi: None. PMM2-CDG is the most prevalent congenital disorder of glycosylation (CDG) and is caused by defective phosphomannomutase2 (PMM2) activity. According to the …

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PERFIL DOS PACIENTES COM CÂNCER NO SANGUE QUE BUSCAM PELO SERVIÇO DA PSICOLOGIA DE UMA ASSOCIAÇÃO SOCIAL ESPECIALIZADA DE SÃO PAULO - RELATO DE EXPERIÊNCIA

Lorenzo Ferri, RAFAELA COELHO PIRES

O contexto oncológico traz a necessidade de uma assistência multiprofissional e diversas intervenções de cuidado em toda a jornada de tratamento, Esta jornada,em específico do câncer no sangue, afeta as bases de segurança. Emoções ambíguas surgem e com elas preocupações nas diversas …

PLANTÃO PSICOLÓGICO: MODALIDADE DE ATENDIMENTO EM SITUAÇÕES DE URGÊNCIA EMOCIONAL PARA PACIENTES COM CÂNCER NO SANGUE - RELATO DE EXPERIÊNCIA

Lorenzo Ferri, RAFAELA COELHO PIRES

O câncer apesar de todas informações e avanço da ciência ainda apresenta estigmas e dúvidas acerca do diagnóstico e tratamento, gerando impacto significativo na vida do paciente e familiares. Quando este câncer é do sangue, existe uma complexidade, como: ansiedade com início …

The c.‐ 265G >A GLA gene promoter variant causes Fabry disease: The hidden culprit identified

Stefania Zampieri, Silvia Cattarossi, Lorenzo Ferri, Claudio Graziano et autres

Here, we report the identification and functional characterization of a novel GLA variant, not detectable by routine molecular tests, in a family with FD suspicion.

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Impaired myoblast differentiation and muscle IGF ‐1 receptor signaling pathway activation after N‐glycosylation inhibition

Giosuè Annibalini, Laura Di Patria, Giacomo Valli, Matteo Bocconcelli et autres

The role of N-glycosylation in the myogenic process remains poorly understood. Here, we evaluated the impact of N-glycosylation inhibition by Tunicamycin (TUN) or by phosphomannomutase 2 (PMM2) gene knockdown, which encodes an enzyme essential for catalyzing an early step of the N-glycosylation …

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Author response for "The c.‐ 265G >A GLA gene promoter variant causes Fabry disease: The hidden culprit identified"

Stefania Zampieri, Silvia Cattarossi, Lorenzo Ferri, Claudio Graziano et autres