Respiratory phenotypes of neuromuscular diseases: A challenging issue for pediatricians.

Neuromuscular disease (NMDs) encompass a heterogeneous group of genetic disorders, with respiratory problems of variable intensity and progression described at any pediatric age, from infancy to adolescence, and they are largely associated with significant lifelong morbidity and high mortality. Restriction of breathing, impaired gas exchange, decline of lung function and sleep disordered breathing progressively develop because of muscular weakness and culminate in respiratory failure. Depending on the disease progression, airways manifestations can take weeks to months or even years to evolve, thus depicting two major respiratory phenotypes, characterized by rapid or slow progression to respiratory failure. Assessing type and age at onset of airways problems and their evolution over time can support pediatricians in the diagnostic assessment of NMD. In addition, knowing the characteristics of patients' respiratory phenotype can increase the level of awareness among neonatologists, geneticists, neurologists, pulmonologists, nutritionists, and chest therapists, supporting them in the challenging task of the multidisciplinary medical care of patients. In this review we examine the issues related to the pediatric respiratory phenotypes of NMD and present a novel algorithm that can act as a guide for the diagnostic agenda and the key preventive or therapeutic interventions of airways manifestations. With prolonged survival of children with NMD, the advent of neuromuscular respiratory medicine, including accurate assessment of the respiratory phenotype, will help physicians to determine patients' prognoses and to design studies for the evaluation of new therapies.

Stent placement in four patients with hepatic artery stenosis or thrombosis after liver transplantation.

Hepatic artery stenosis and thrombosis represent dangerous complications of liver transplantation because the associated mortality and morbidity rates are high. In the past, repeat transplantation was considered the first-choice therapy; however, new surgical and interventional revascularization techniques have been suggested recently. Although extensive experience has been acquired with percutaneous transluminal angioplasty (PTA) and fibrinolysis techniques, only sporadic cases of stent placement in the hepatic artery of a transplanted liver have been reported, and no long-term results of this technique are available. In this study, seven stents (five Wallstents and two Palmaz stents) were positioned in four patients (two with stenoses and two with thromboses). Stent placement was performed in three cases after PTA and fibrinolysis, whereas primary stent placement was performed in the fourth. In all cases, technical success was achieved. During 18-25 months of follow-up, all stents proved patent and no patient required another transplantation. Although experience is still limited, the authors' experience indicates that placement of a stent in the hepatic artery in cases of stenosis or thrombosis yields good medium-term success, improving the results obtained by fibrinolysis and PTA and consequently enabling the graft to survive and avoiding the need for repeat transplantation.