[HTML][HTML] Guidelines for diagnosis and management of congenital central hypoventilation syndrome

…, M Migdal, A Markstrom, G Ottonello, R Piumelli… - Orphanet journal of rare …, 2020 - Springer
Background Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition
characterized by an alveolar hypoventilation due to a deficient autonomic central control of …

[HTML][HTML] Apparent life-threatening events (ALTE): Italian guidelines

R Piumelli, R Davanzo, N Nassi, S Salvatore… - Italian journal of …, 2017 - Springer
Five years after the first edition, we have revised and updated the guidelines, re-examining
the queries and relative recommendations, expanding the issues addressed with the …

International child care practices study: infant sleeping environment

…, B Kiberd, M McDonnell, G Donzelli, R Piumelli… - Early human …, 2001 - Elsevier
Background: The International Child Care Practices Study (ICCPS) has collected descriptive
data from 21 centres in 17 countries. In this report, data are presented on the infant sleeping …

[HTML][HTML] A Common 3′UTR Variant of the PHOX2B Gene Is Associated With Infant Life-Threatening and Sudden Death Events in the Italian Population

T Bachetti, S Bagnasco, R Piumelli, A Palmieri… - Frontiers in …, 2021 - frontiersin.org
Heterozygous mutations in the Paired like homeobox 2b (PHOX2B) gene are causative of
congenital central hypoventilation syndrome (CCHS), a rare monogenic disorder belonging to …

Fog-induced cough with impaired respiratory sensation in congenital central hypoventilation syndrome

…, GA Fontana, T Pantaleo, P Geri, R Piumelli… - American journal of …, 2007 - atsjournals.org
Rationale: Congenital central hypoventilation syndrome (CCHS) is a genetic disorder mainly
characterized by failure of automatic control of breathing, causing alveolar hypoventilation. …

[HTML][HTML] Sleeping problems in mothers and fathers of patients suffering from congenital central hypoventilation syndrome

EM Paddeu, F Giganti, R Piumelli, S De Masi… - Sleep and …, 2015 - Springer
Purpose Advanced medical technology has resulted in an increased survival rate of children
suffering from congenital central hypoventilation syndrome. After hospitalization, these …

Comparison between pulse oximetry and transthoracic impedance alarm traces during home monitoring

N Nassi, R Piumelli, E Lombardi, L Landini… - Archives of disease in …, 2008 - adc.bmj.com
R Piumelli2, … Dr Raffaele Piumelli, Regional SIDS Center, “Anna Meyer” Children’s
University Hospital, Florence, Italy; centrosids{at}meyer.it … Ramanathan R, …

[HTML][HTML] Urinary biomarkers as a proxy for congenital central hypoventilation syndrome patient follow-up

…, M Vasarri, G la Marca, C Arzilli, R Piumelli… - Antioxidants, 2022 - mdpi.com
Congenital Central Hypoventilation Syndrome (CCHS) is a rare genetic disorder of the
autonomic nervous system and in particular of the respiratory control during sleep. No drug …

Mutational analysis of the RNX gene in congenital central hypoventilation syndrome

…, R Piumelli, JG Schober, R Ravazzolo… - American journal of …, 2002 - Wiley Online Library
Congenital central hypoventilation syndrome (CCHS) is a rare syndrome characterized by
failure of autonomic respiratory control, often presenting with other dysfunctions of the …

Systemic oxidative stress in congenital central hypoventilation syndrome

…, N Nassi, C Arzilli, R Piumelli - European …, 2018 - Eur Respiratory Soc
Congenital central hypoventilation syndrome (CCHS), also known as Ondine's curse, is a
rare disorder characterised by severe hypoventilation during sleep and autonomic …