Abstract：
:Cystic fibrosis (CF) is an inherited, prematurely lethal rare disease affecting more than 85,000 people worldwide. CF is caused by more than 2000 loss-of-function mutations in the gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR). This review summarizes recent advances in the etiological therapies of CF that aim at repairing the functional defect of CFTR by means of CFTR modulators. We will discuss the state of art of the mutation-specific treatments that are designed to target different steps of the CFTR biogenesis perturbed by mutations in CFTR gene. Moreover, we will discuss how drug repositioning, namely the use of drugs already approved for the treatment of other human diseases, may be repurposed in CF patients to circumvent CFTR dysfunction. Finally, we highlight how the combined use of two or more compounds acting on different disease mechanisms is required to achieve clinical benefit in CF population.
journal_name
Minerva Pediatrjournal_title
Minerva pediatricaauthors
Villella VR,Tosco A,Esposito S,Bona G,Raia V,Maiuri Ldoi
10.23736/S0026-4946.19.05506-3subject
Has Abstractpub_date
2019-06-01 00:00:00pages
287-296issue
3eissn
0026-4946issn
1827-1715pii
S0026-4946.19.05506-3journal_volume
71pub_type
杂志文章,评审abstract：:The gynaecological approach with the adolescent is always complex, arduous and also stimulating. It is necessary to acquire specific knowledge, to understand that the adolescent is always searching for his identity and that the most important request is that the normality. The first impact is fundamental, understandin...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2002-12-01 00:00:00
abstract：:During patient triggered ventilation, the infant's inspiratory efforts should occur synchronously with ventilator inflations. Such an optimal interaction, however, is dependent on the performance of the triggering device and the ventilator and the infant's lung function. Triggered ventilation (assist control, A/C), sy...
journal_title：Minerva pediatrica
pub_type： 杂志文章,评审
doi：
更新日期：2006-08-01 00:00:00
abstract：OBJECTIVES:During a survey regarding infant health in 7 regions, diffusion and length of time of breast-feeding nowadays in Italy were studied. MATERIALS AND METHODS:By OMS Epi methodology, 210 children sampled from each area of study and specialized health workers carried out the interviews at home using a specific q...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：1995-11-01 00:00:00
abstract：BACKGROUND:The objective of this study was to define the distribution of inhalant allergens in pediatric patients in whom sensitization was diagnosed with a skin prick test (SPT) who had presented with allergic complaints. In addition, the correlation between the inhalant allergens detected on the SPT and the patients'...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2016-08-01 00:00:00
abstract：BACKGROUND:To investigate if high dose inhaled beclomethasone dipropionate started early after upper respiratory tract infection (URTI) could reduce recurrent wheezing in infants. METHODS:Twenty-six ambulatory infants, 7-12 months of age, with recurrent wheezing during upper respiratory tract infection participated. A...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2002-06-01 00:00:00
abstract：BACKGROUND:The aim of this study was to analyze multidrug resistance-associated protein 1 (MRP1) expression of peripheral blood of children intractable epilepsy. METHODS:Sixty children with epilepsy admitted to outpatient and inpatient services of Xuzhou Children's Hospital between November 2010 and October 2011 were ...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：10.23736/S0026-4946.16.04358-9
更新日期：2018-04-01 00:00:00
abstract：AIM:Macrophage activation syndrome (MAS) is a rare complication of childhood with rheumatic disease. This syndrome has been reported as a complication of many rheumatic diseases, most commonly in systemic onset of juvenile idiopathic arthritis (SoJIA). The aim of this study was evaluation the rate, symptoms and outcome...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2011-12-01 00:00:00
abstract：BACKGROUND:Specific learning disorders (SLDs) are a group of neuropsychological disorders which reduce a child's ability to read and/or write and/or use numbers. Internalizing disorders, and in particular anxiety, has been reported as a relatively common comorbidity in children with reading difficulties. We conducted t...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2016-02-01 00:00:00
abstract：:The development and evaluation of early preventative interventions for individuals exposed to a potentially traumatic event (PTE) have been increasing in number and sophistication over the last decade. Evaluation of early interventions for individuals who are symptomatic several weeks after exposure to a PTE have been...
journal_title：Minerva pediatrica
pub_type： 杂志文章,评审
doi：
更新日期：2011-06-01 00:00:00
abstract：AIM:The prevalence of systemic reactions (SR) to Hymenoptera stings in children was estimated in values lower than 1% in early studies but much higher in recent surveys. We evaluated the current prevalence and the incidence of SR and large local reactions (LLR) to Hymenoptera stings in children in Italy. METHODS:The d...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2014-08-01 00:00:00
abstract：BACKGROUND:YouTube is overloaded with various medical videos and has become a common source for surgeons and the general public alike to update on surgical procedures. This study determined the quality and benefits of information with regards to laparoscopic pyloromyotomy on YouTube. METHODS:A search was performed on ...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：10.23736/S0026-4946.18.05178-2
更新日期：2018-07-18 00:00:00
abstract：:Familiar genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis complex (TSC), oculocutaneous albinism (OCA), basal cell nevus syndrome (BCNS), incontinentia pigmenti, ichthyosis, and epidermolysis bullosa (EB) have prominent, cutaneous manifestations. This review describes recent advances in kno...
journal_title：Minerva pediatrica
pub_type： 杂志文章,评审
doi：10.23736/S0026-4946.17.04925-8
更新日期：2017-08-01 00:00:00
abstract：:Early recognition of shock is the key to successful resuscitation in critically ill children. Often, shock results in or co-exists with myo-cardial dysfunction or acute lung injury. Recognition and appropriate management of these insults is crucial for successful outcomes. Resuscitation should be directed to restorati...
journal_title：Minerva pediatrica
pub_type： 杂志文章,评审
doi：
更新日期：2009-02-01 00:00:00
abstract：: ...
journal_title：Minerva pediatrica
pub_type： 信件
doi：10.23736/S0026-4946.17.04790-9
更新日期：2019-10-01 00:00:00
abstract：:Little is known about the overlapping symptoms and comorbidity of pediatric bipolar disorder (BD) and pervasive developmental disorders (PDD) in youth. The aim of this study was to clearly differentiate the symptoms, understand the prevalence and patterns of comorbid presentations, as well as to provide a summary of e...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2008-02-01 00:00:00
abstract：:Personal experience of a series of mycoplasma-induced pneumoniae is reported. The importance of early diagnosis for the purpose of speedy target antibiotic therapy is reiterated. Stress is laid on the absence of complications in all patients studied. ...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：1989-06-01 00:00:00
abstract：:With the cooperation of 12 Maternity Hospitals we have started a prospective study to evaluate the effect of dietary and environmental measures in the development of atopic disease in "at risk" newborns. The preventive measures included: exclusive breast feeding for the first 6 months of life, soy milk supplement when...
journal_title：Minerva pediatrica
pub_type： 杂志文章,多中心研究,评审
doi：
更新日期：1996-10-01 00:00:00
abstract：:Chronic viral hepatitis B and C infections are highly prevalent and create a substantial burden to healthcare systems globally. These two chronic infections are the cause of significant global morbidity and mortality with approximately 1 million annual deaths attributable to them and their sequelae. Children are vulne...
journal_title：Minerva pediatrica
pub_type： 杂志文章,评审
doi：
更新日期：2014-10-01 00:00:00
abstract：:The Authors describe an uncommon case of growth retardation; the clinical and radiological elements that the Authors to a diagnosis of spondyloepiphyseal dysplasia (SED) are noted; they compare this to other diagnosis of different types of growth retardation, they underline the necessity of taking these rare types int...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：1992-07-01 00:00:00
abstract：BACKGROUND:Obesity is a condition that increases the risk of developing several health problems, resulting in high health care costs worldwide. Therefore, it is important to investigate several avenues for the control of this condition. This study aimed to identify a dermatoglyphical condition that distinguishes obesit...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：10.23736/S0026-4946.20.05731-X
更新日期：2021-01-13 00:00:00
abstract：:Non-alcoholic fatty liver disease (NAFLD) encompasses a range of liver histology severity and outcomes in the absence of chronic alcohol use. The mildest form is simple steatosis in which triglycerides accumulate within hepatocytes. A more advanced form of NAFLD, non-alcoholic steatohepatitis (NASH), includes inflamma...
journal_title：Minerva pediatrica
pub_type： 杂志文章,评审
doi：
更新日期：2010-12-01 00:00:00
abstract：:The onset of puberty may be late - in the latter part of the predicted normal range or truly delayed - beyond this range. The latest age to start is usually regarded as 13 years in girls and 14 years in boys. There may also be a delayed completion of puberty, 16 years in girls and 17 years in boys. The initial approac...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：10.23736/S0026-4946.20.05968-X
更新日期：2020-12-01 00:00:00
abstract：:Asthma therapy recognizes three fundamental key points: primary prevention, secondary prevention, including the control of inflammatory mechanisms and related symptoms, and tertiary prevention, consisting in the treatment of the early phases leading to airway remodelling. As for primary prevention in infants at ''high...
journal_title：Minerva pediatrica
pub_type： 杂志文章,评审
doi：
更新日期：2008-04-01 00:00:00
abstract：BACKGROUND:A drug-related problem (DRP) may be defined as "an event or circumstance involving drug therapy that actually or potentially interferes with the desired health outcome". Our aim was to determine the frequency and characteristics of DRPs in pediatric patients admitted to a tertiary cardiac care center in the ...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2016-04-01 00:00:00
abstract：:Insulin-dependent diabetes mellitus is associated to important micro and macro vascular complications. A good metabolic control can reduce the risk of complications. Aim of the study was to evaluate the metabolic control in adolescent diabetic patients using an educational system with graphic visualisation of capillar...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：1996-06-01 00:00:00
abstract：:Chronic kidney disease (CKD) is a continuum of progressive reduction in kidney function lasting for more than three months, due to either structural and/or functional renal abnormalities that may lead to irreversible kidney damage. The term "renal supportive therapy" (RST) generally characterizes the spectrum of dialy...
journal_title：Minerva pediatrica
pub_type： 杂志文章,评审
doi：
更新日期：2012-04-01 00:00:00
abstract：:The Femoral hypoplasia - unusual facies syndrome (FHUF) or Femoral - facial syndrome (FFS) was at first described in 1975. Up to now about 60 cases have been reported. According to our knowledge only 4 cases have had congenital central nervous system's malformations, furthermore the main stages of psychomotor developm...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2011-08-01 00:00:00
abstract：BACKGROUND:Intrauterine growth restriction (IUGR) is caused by fetal growth below what is normal for its genetic potential. Recent studies have shown a distinct association between changes in umbilical artery flow in IUGR subjects and an increased risk of respiratory morbidity and was to find the impact of IUGR on the ...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：10.23736/S0026-4946.17.04965-9
更新日期：2017-05-31 00:00:00
abstract：:The introduction of the new diagnostic tools for neuroimaging has resulted in the early recognition of congenital brain tumors. In the present report we describe 39 children, in whom the diagnosis of an intracranial tumor has been obtained during the first 12 months of life. These patients represent 14.4% of a pediatr...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：1990-11-01 00:00:00
abstract：:Cannabis poisoning is rarely reported in young children. We present the case of a child twenty months old admitted to the Emergency Room because of sopor, hypotonia and miosis. This is the first out of 1150 poisonings under the age of five registered at Trieste between 1975-1992. Cannabis poisoning has to be considere...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：1994-07-01 00:00:00
