Abstract：
:Gilbert's syndrome is a genetically controlled non-hemolytic unconjugated hyperbilirubinemia, caused by reduced activity of UDP-glucoroniltransferase 1, an enzyme critical in bilirubin metabolism. Several molecular configurations may be implicated in a Gilbert's phenotype. Familial mediterranean fever (FMF) is an inherited acute relapsing inflammatory disorder, affecting Mediterranean and Middle East populations. The molecular basis of the disorder concerns the MEFV gene coding for a protein named pyrin; several point mutations of MEFV gene have been associated with the disease. The authors present an unusual patient co-affected by both Gilbert's syndrome and FMF who carried a peculiar Gilbert's genotype. The coexistence of these two genetic conditions seems to be rare but interesting as the potentially overlapping clinical symptoms may rise interesting diagnostic problems.
journal_name
Minerva Pediatrjournal_title
Minerva pediatricaauthors
Kalotychou V,Kanta A,Rombos Y,Konstantopoulos Ksubject
Has Abstractpub_date
2008-08-01 00:00:00pages
469-72issue
4eissn
0026-4946issn
1827-1715journal_volume
60pub_type
杂志文章abstract：AIM:The estimation of peak expiratory flow (PEF) in children is a very easy and practical way to check lung function and helps in the diagnosis, treatment follow-up and evaluation of the development of chronic obstructive pulmonary disease. METHODS:Using a Mini-Wright flowmeter (Clement Clarke International Ltd, Engla...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2005-04-01 00:00:00
abstract：AIM:The increase in life expectancy of cystic fibrosis (CF) patients has brought about a rise in new clinical problems in these patients, such as a decrease in bone mineral density (BMD). The cause of diminished BMD in CF is multi-factorial. METHODS:The aim of this cross-sectional study, conducted on 39 CF patients un...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2008-04-01 00:00:00
abstract：BACKGROUND:Although the main treatments of inflammatory bowel disease (IBD) aim at the induction and maintenance of clinical remission, several studies have demonstrated inflammation still present in clinical remission. The goal of this study was to analyze the gene expression profiles between the pediatric IBD and con...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：10.23736/S0026-4946.18.04997-6
更新日期：2018-01-29 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：BACKGROUND:A complex association has been observed between birth weight (BW) and depression/anxiety symptoms at various stages of life. The purpose of this study was to evaluate whether adolescents with low or insufficient BW were more likely to report depressive/anxiety symptoms. METHODS:A cross-sectional study was c...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：10.23736/S0026-4946.17.04452-8
更新日期：2018-10-01 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:Aim of study was to ascertain the possible presence of congenital dysplasia of the hip in infants (CDH) in the population immigrated from countries where the problem is surely neglected from the local health service and estimate its incidence. Moreover to observe the impact of the CDH problem on the parents ...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：1997-10-01 00:00:00
abstract：AIM:The aim of this study was to evaluate the intraocular pressure (IOP) levels of children with normal and high Body Mass Index (BMI) and to find out the potential correlation between glaucoma and obesity. METHODS:Thirty obese and thirty healty children were enrolled in this study. Physical examinations and anthropom...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2015-10-01 00:00:00
abstract：AIM:Optic pathway gliomas (OPG) are the predominant intracranial tumours associated with neurofibromatosis type 1 (NF1). The aim of this study was to evaluate the prevalence and the outcome of OPG in 200 NF1 patients (122 males and 78 females, aged 1-25 years) followed up to 16 years (mean of 6 years). METHODS:All chi...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2007-02-01 00:00:00
abstract：: ...
journal_title：Minerva pediatrica
pub_type： 社论
doi：10.23736/S0026-4946.18.05437-3
更新日期：2018-12-01 00:00:00
abstract：BACKGROUND:Developmental Dyslexia is a disorder, highly frequent in the school population, for which the recommended rehabilitation procedures are not well defined. This study aimed to automatize reading decoding skills by using an innovative system for rehabilitation, based on a telerehabilitation method. It requires ...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：10.23736/S0026-4946.16.04426-1
更新日期：2018-12-01 00:00:00
abstract：BACKGROUND:The aim of our study was multifaceted neurodevelopmental examination of children born prematurely with very low birth weight (VLBW) in order to evaluate the usefulness of popularly used tests. The second aim of the study was exploration of risk and protective factors of neurodevelopmental impairment. METHOD...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：10.23736/S0026-4946.16.04513-8
更新日期：2019-08-01 00:00:00
abstract：BACKGROUND:This study aims to explore the correlation between nutrient level and pneumonia via the analysis and intervention of nutrient levels in pediatric patients with pneumonia. METHODS:Nutrient deficient children with pneumonia were randomized into intervention and non-intervention groups, and healthy children wi...
journal_title：Minerva pediatrica
pub_type： 杂志文章,随机对照试验
doi：
更新日期：2016-02-01 00:00:00
abstract：:Biliary atresia is a severe neonatal malformation in which the entire extrahepatic biliary tract or part of it is absent and replaced by fibrosclerotic tissue. Having been described for the first time by Thomson in 1891, biliary atresia has an incidence of 1:10,000-15,000 live neonates with a slight predominance in th...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2001-08-01 00:00:00
abstract：AIM:To evaluate the prevalence of ultrasound diagnosis of adenomyosis and endometriosis in young women complaining of pelvic pain and to find the symptoms and clinical characteristics associated with these diseases in young women. METHODS:Cross-sectional study, including 100 young women (14-24 years) with a history of...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：10.23736/S0026-4946.20.05842-9
更新日期：2020-06-16 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：AIM:Promoting physical activity is one of the main goals of health-promotion policies. The period of adolescence is characterised by a high rate of abandonment of any physical activity. In this age range, moreover, the risk of assuming substances in order to improve muscular-mass or athletic results is concrete. This s...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2004-06-01 00:00:00
abstract：:Parenteral nutrition associated liver disease is the most common complication of pediatric short bowel syndrome (SBS). There is emerging evidence that the disease may be reversed with the use of parenteral lipid emulsions derived from fish-oils, which contain significant concentrations of omega-3 fatty acids (w3FA). T...
journal_title：Minerva pediatrica
pub_type： 杂志文章,评审
doi：
更新日期：2009-06-01 00:00:00
abstract：BACKGROUND AND AIMS:The hypothesis of an emotional component in asthma has been put forward since antiquity. It is currently explored using a psychodynamic, cognitive-behavioural and systemic-relational approach. This study, carried out using a psychodynamic approach, aimed to identify the psychological aspects of recu...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：1998-03-01 00:00:00
abstract：:The paper illustrates the characteristics of external fixators (EF) (Wagner, FEA, Ilizarov) regularly used in pediatric surgery. Attention is focused on the indications for their use in orthopedics and traumatology during the developmental age. In conclusion, their use, even though in traumatology this is more restric...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：1991-01-01 00:00:00
abstract：:Contiguous gene deletion syndromes: the importance of an accurate genetic definition for a careful clinical monitoring. Contiguous gene deletion syndromes are so named because the deletion manifests as a distinctive cluster of otherwise unrelated single-gene disorders in the same subject. An accurate genetic definitio...
journal_title：Minerva pediatrica
pub_type： 杂志文章,评审
doi：
更新日期：2010-06-01 00:00:00
abstract：:The sudden infant death syndrome (SIDS) is the sudden dead of every infant or small child (usually within the first year of life). It is an unexpected event, according to the anamnesis of the subject, and the necroscopic examination of the event does not allow to demonstrate with success the proper cause of death. The...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2010-04-01 00:00:00
abstract：:Both systolic and diastolic dysfunction in the pediatric population can be identified by bedside echocardiography and can guide therapy and evaluate response to therapy. Isolated diastolic dysfunction is rare in children; however many conditions can lead to systolic dysfunction. In this review various echocardiographi...
journal_title：Minerva pediatrica
pub_type： 杂志文章,评审
doi：
更新日期：2011-10-01 00:00:00
abstract：:The majority of childhood cancer patients can expect nowadays to be cured and the percentage is now between 70% and 80%. The number of long-term survivors, off- threatment for at least 5 years, is rising rapidly and is becoming a new population, which needs a special care. It is becoming increasingly important to know...
journal_title：Minerva pediatrica
pub_type： 杂志文章,评审
doi：
更新日期：2005-12-01 00:00:00
abstract：AIM:To evaluate the possible effects of recombinant growth hormone (rhGH) therapy on mineral homeostasis and bone turnover, the authors studied calcium-phosphate metabolism parameters, including some bone markers, in 2 prepubertal subjects with Noonan's syndrome (NS). METHODS:Two prepubertal males suffering from NS, s...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2003-12-01 00:00:00
abstract：:West syndrome is a generalized epilepsy syndrome composed of infantile spasms and onset is usually within the first year of life. Although West syndrome is well known clinical epileptic syndrome, there is no agreement about the first- and second-line treatments. In the last years a great progress in the development of...
journal_title：Minerva pediatrica
pub_type： 杂志文章,评审
doi：
更新日期：2007-06-01 00:00:00
abstract：:A preliminary undiagnosed case of partial carbamyl-phosphate-synthetase deficiency in a 14 year old patient is described. This extremely rare metabolic disorder is unlikely to produce clinical symptoms at such an advanced age. Details are given of the clinical picture, the diagnosis (by liver biopsy and post mortem li...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：1989-02-01 00:00:00
abstract：:Asthma is a condition characterised by airways inflammation and bronchial hyperresponsiveness to specific and aspecific spasmogens associated with reversible airways obstruction. The bronchomotor tone is the result of an interaction between neurotransmitter release and local mediators. The efferent neurohumoral pathwa...
journal_title：Minerva pediatrica
pub_type： 杂志文章,评审
doi：
更新日期：2000-11-01 00:00:00
abstract：:Thoracic tumours of childhood arise either in the mediastinum, or from the chest wall and rarely from the lung parenchyma. Mediastinal teratoma occur in the anterior mediastinum and are usually very large at presentation; initial treatment is under discussion, but it appears that surgical excision and histological exa...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2012-06-01 00:00:00
