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 definition of the deleted region is extremely important for the appropriate management of these patients and for unravelling the function of the involved genes. The microarray-based comparative genomic hybridization (CGH arrays) analysis is the actual molecular method able to accurately define the bounds of a deleted region, since it allows an evaluation of DNA copy number alterations associated to chromosome abnormalities, with higher resolution than classical cytogenetics or chromosomal banding. The clinical presentation, the diagnostic course, the genetic investigations and the follow-up of a patient harbouring a contiguous gene deletion syndrome will be presented during the seminar. The newborn with ambiguous genitalia: diagnostic approach toward clinical and genetic definition. Disorders of sexual differentiation may depend on several different causes and pathogenetic mechanisms, which may interfere at different stages of the complex pathway of sexual determination and differentiation. Several genes are involved, together with hormones and receptors. The main disorders of sexual differentiation are characterized by dissociation between chromosomes and gonads or gonads and external genitalia appearance. Clinical phenotypes may be distinguished in true hermaphroditism and male or female pseudohermaphroditism. Diagnostic definition is based on clinical and instrumental evaluation and laboratory investigations (hormonal, cytogenetic and molecular genetic investigations). Early diagnosis may allow an appropriate medical and/or surgical treatment, involving a multidisciplinary equipe. The correct gender assessment must be guided by clinical and genetic diagnosis and, in the meantime, by the possibility of anatomic and functional recovery and the future reproductive opportunities.
journal_name
Minerva Pediatrjournal_title
Minerva pediatricaauthors
De Sanctis L,Giuffrè Msubject
Has Abstractpub_date
2010-06-01 00:00:00pages
193-5issue
3 Suppl 1eissn
0026-4946issn
1827-1715journal_volume
62pub_type
杂志文章,评审abstract：:Intra-abdominal lymphangiomas are rare benign tumours that can cause various symptoms, mainly during childhood. They are diagnosed by ultrasonography, CT scanning or at laparotomy; ultrasonographic examination often shows a voluminous tumoral cystic formation with septa. The location of the cyst may be determined eith...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2006-02-01 00:00:00
abstract：BACKGROUND:In the last years thalassemic patients gained a good improvement in prognosis and life style. However, short stature and hypogonadism are still frequent endocrine problems in this population. METHODS:In a group of eleven thalassemic males (14-18 years old), the spontaneous nocturnal endocrine patterns of LH...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：1998-05-01 00:00:00
abstract：:A comprehensive study on the rights of the adolescent to the protection of his health according to existing Italian legislation is carried out. After a full examination of international law, the author carefully evaluates all specific articles of the Italian Constitution and all the civil and penal code articles rega...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：1983-04-30 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：: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：AIM:The aim of this study was to critically compare 9 different questionnaires for the evaluation of the Quality of Life in children affected by asthma. METHODS:The questionnaires were analyzed by considering their psychometric characteristics (reliability, validity, responsiveness, least clinically relevant differenc...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2003-08-01 00:00:00
abstract：AIM:The median urinary iodine concentration (UIC) for schoolchildren was 90 microg/L in Biella and 136 microg/L in Novara in survey carried out in 1995-1996. Biella resulted as iodine deficiency area and Novara as iodine sufficient area. Aim of our study was to assess goiter prevalence by ultrasonography in Biella and ...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2006-06-01 00:00:00
abstract：BACKGROUND:Since most of the children observed in our Centre present enuresis with voiding disturbance, we carried out a study where these patients were treated with the DDAVP + Oxybutinin association. METHODS:We have treated 89 children with enuresis and voiding disturbances (urge incontinence, voiding urgency, urina...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：1999-05-01 00:00:00
abstract：:In this study the authors evaluated the correlation between plasma somatomedin C (SmC) levels and auxological features in 129 short children, who have been subdivided into four groups: classical growth hormone (GH) deficiency (14 prepubertal subjects), normal responses to provocative stimuli tests, but diminished spon...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：1991-09-01 00:00:00
abstract：:The authors report the case of a 13-year-old girl affected with urethritis, conjunctivitis, and oligoarticular arthritis. These symptoms represent the classical triad of Fiessinger-Leroy-Reiter's syndrome. The research for HIV was negative and the antigen HLA B27 was absent. The young patients has been treated by FANS...
journal_title：Minerva pediatrica
pub_type： 杂志文章,评审
doi：
更新日期：1993-07-01 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: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：: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
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：:Providing optimal mechanical ventilation to critically-ill children remains a challenge. Patient-ventilator dyssynchrony results frequently with numerous deleterious consequences on patient outcome including increased requirement for sedation, prolonged duration of ventilation, and greater imposed work of breathing. M...
journal_title：Minerva pediatrica
pub_type： 杂志文章,评审
doi：
更新日期：2016-12-01 00:00:00
abstract：:Dermatophytosis in newborns and infants has been regarded as very unusual; a case recently observed of a 2-month-old child affected by tinea faciei is described. Twenty days before, localized erythematous infiltrated patches at the upper left eyelid and eyebrows with papules and pustules, were observed. Rarefaction of...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2001-02-01 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：:The diagnosis and treatment of anorexia nervosa (AN) in children and adolescents has some commonality but also differs from that of this condition in adults. A new understanding of AN is emerging: research data from the fields of epidemiology, genetics, and brain biology, suggest that there may be an underlying brain ...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2013-02-01 00:00:00
abstract：:With increased survival of extremely low birth weigh (ELBW) and very ill infants, a lot of them are discharged with unresolved medical issues that complicate their subsequent care. Infants born preterm with low birth weight who require neonatal intensive care experience a much higher rate of hospital readmission and d...
journal_title：Minerva pediatrica
pub_type： 杂志文章,评审
doi：
更新日期：2010-06-01 00:00:00
abstract：AIM:The objective of this paper is an empirical analysis of mother-infant feeding interactions through an observational instrument (Feeding Scale), which is applied to the videotape of a feeding session. METHODS:Three samples of mothers and their children have been examined (104 couples with children ranging in age fr...
journal_title：Minerva pediatrica
pub_type： 杂志文章,评审
doi：
更新日期：2003-06-01 00:00:00
abstract：:In recent years, infection with cytomegalovirus (CMV) was the subject of numerous studies, one side being the most frequent congenital infection in newborns and one that determines the increased incidence of sequelae distance (about one third of childhood deafness is due to CMV), and the other one of the most frequent...
journal_title：Minerva pediatrica
pub_type： 杂志文章,评审
doi：
更新日期：2013-10-01 00:00:00
abstract：:Avascular necrosis (AN) of bone is a complication of systemic lupus erythematosus (SLE). In the present paper we describe two patients with SLE who presented an AN of femoral condyles 18 months and 2 years respectively after the diagnosis of the disease. In the second case, together with the destructive change of the ...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：1989-01-01 00:00:00
abstract：AIM:The aim of this study was to assess the impact and the peculiarities of cerebral palsy (CP) in children discharged from our neonatal intensive care unit (NICU) from January 1998 to April 2004. METHODS:A total of 2 303 children were discharged from our NICU during this period and 1 912 were followed up for 1 year t...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2006-04-01 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：BACKGROUND:We explored the clinical efficacy of vitamin A combined with vitamin B in the prevention and treatment of premature infants with anemia. METHODS:One hundred fifty cases of premature infants were divided into three groups. Vitamin A combined with recombinant human erythropoietin (group A), vitamin B combined...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：10.23736/S0026-4946.17.05049-6
更新日期：2019-02-01 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：:The authors present the developmental outcome of 16 children with congenital hypothyroidism diagnosed by screening in the neonatal period, using the Brazelton and the Dubowitz scales in the newborn and the Griffiths scale subsequently. Results are compared with those of a control group assessed at 6 and 18 months usin...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：1989-04-01 00:00:00
abstract：OBJECTIVE:The aim of this study was to asses the validity of the TCB nomogram for the European population for predicting significant hyperbilirubinemia in healthy term and late-preterm newborns. METHODS:This observational study was conducted from February 2009 to December 2009 in the well-baby nurseries of Gemelli hos...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2010-06-01 00:00:00
abstract：AIM:The present clinical study was carried out in order to evaluate in a perspective way the incidence of the infections caused by CVC, the micro-organisms mostly involved in the infectious process, the condition of aplasia in patients when blood cultures show positiveness and the incidence of removals expressed as num...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2012-08-01 00:00:00
abstract：:The present study concerns with anthropometric and nutritional data collected in the school population of a small rural town in Lazio. We studied 368 school-children of both sexes, belonging to the following age groups: from 7 to 8 years, 9 to 10 years, 11 to 12 years, 13 to 14 years. The technique of evaluation of ob...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：1992-06-01 00:00:00
