User profiles for "author:Giacomo Brisca"

Giacomo Brisca

IRCCS Istituto Gaslini Genova
Verified email at gaslini.org
Cited by 1723

Diagnosis and management of autoinflammatory diseases in childhood

M Gattorno, S Federici, MA Pelagatti, R Caorsi… - Journal of Clinical …, 2008 - Springer
Introduction Autoinflammatory diseases are a group monogenic inflammatory conditions
characterized by an early onset during childhood. Discussion Under the term “periodic …

The pattern of response to anti–interleukin‐1 treatment distinguishes two subsets of patients with systemic‐onset juvenile idiopathic arthritis

M Gattorno, A Piccini, D Lasigliè, S Tassi… - Arthritis & …, 2008 - Wiley Online Library
Objective To assess the clinical response to interleukin‐1 (IL‐1) blockade and in vitro IL‐1β
and IL‐18 secretion in patients with systemic‐onset juvenile idiopathic arthritis (JIA) …

Ketamine as advanced second‐line treatment in benzodiazepine‐refractory convulsive status epilepticus in children

S Buratti, E Giacheri, A Palmieri, J Tibaldi, G Brisca… - …, 2023 - Wiley Online Library
Status epilepticus (SE) is one of the most common neurological emergencies in children. To
date, there is no definitive evidence to guide treatment of SE refractory to benzodiazepines …

Successful treatment of idiopathic recurrent pericarditis in children with interleukin‐1β receptor antagonist (anakinra): an unrecognized autoinflammatory disease?

P Picco, G Brisca, F Traverso, A Loy… - Arthritis & …, 2009 - Wiley Online Library
Recurrent pericarditis occurs in association with various medical conditions, but in most
cases the condition appears to be idiopathic. Although high‐dose steroid treatment is often …

Novel Dynein DYNC1H1 Neck and Motor Domain Mutations Link Distal Spinal Muscular Atrophy and Abnormal Cortical Development

C Fiorillo, F Moro, J Yi, S Weil, G Brisca… - Human …, 2014 - Wiley Online Library
ABSTRACT DYNC 1 H 1 encodes the heavy chain of cytoplasmic dynein 1, a motor protein
complex implicated in retrograde axonal transport, neuronal migration, and other …

The impact of COVID-19 lockdown on infectious diseases epidemiology: The experience of a tertiary Italian Pediatric Emergency Department

GA Rotulo, B Percivale, M Molteni, A Naim… - The American journal of …, 2021 - Elsevier
Introduction The aim of this study was to describe the rate and types of community-acquired
respiratory infections observed in a pediatric ED during the SARS-CoV-2 related lockdown …

[HTML][HTML] Timely recognition and early multi-step antinflammatory therapy may prevent ICU admission of patients with MIS-C: proposal for a severity score

G Brisca, A Consolaro, R Caorsi, D Pirlo, G Tuo… - Frontiers in …, 2021 - frontiersin.org
In this observational study, we report the clinical, therapeutics and outcome features of 23
patients with multisystem inflammatory syndrome (MIS-C) who have been treated in Gaslini …

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1–3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry

A Nikolic, G Ricci, F Sera, E Bucci, M Govi, F Mele… - BMJ open, 2016 - bmjopen.bmj.com
Objectives Facioscapulohumeral muscular dystrophy type 1 (FSHD1) has been genetically
linked to reduced numbers (≤ 8) of D4Z4 repeats at 4q35. Particularly severe FSHD cases …

MRI in sarcoglycanopathies: a large international cohort study

G Tasca, M Monforte, J Díaz-Manera… - Journal of Neurology …, 2018 - jnnp.bmj.com
Objectives To characterise the pattern and spectrum of involvement on muscle MRI in a
large cohort of patients with sarcoglycanopathies, which are limb-girdle muscular …

[HTML][HTML] Listeria meningitis complicated by hydrocephalus in an immunocompetent child: case report and review of the literature

G Brisca, A La Valle, C Campanello, M Pacetti… - Italian Journal of …, 2020 - Springer
Background Listeria monocytogenes is a Gram-positive bacteria transmitted to human by
animal stools, contaminated water and food. In children, Listeria monocytogenes typically …