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 liver examination) and the attempts at treatment.
journal_name
Minerva Pediatrjournal_title
Minerva pediatricaauthors
Gomirato G,Giaretto G,Bonomi A,Rossi E,Rovere A,Radeschi G,Crosato Msubject
Has Abstractpub_date
1989-02-01 00:00:00pages
105-8issue
2eissn
0026-4946issn
1827-1715journal_volume
41pub_type
杂志文章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::In this study we compare the peculiarities of psychopathological risk in children with partial epilepsy versus children with chronic illness. Sixteen children affected by epilepsy with partial seizures, symptomatic or cryptogenetic (group A), are compared with 16 children affected by diabetes mellitus type 1 (group B)...
journal_title:Minerva pediatrica
pub_type: 杂志文章
doi:
更新日期:1995-05-01 00:00:00
abstract::The remarkable effectiveness of surfactant in neonatology suggested its use also in adults as well as in children on the basis of the pulmonary pathophysiology. We describe a case of an 18 month-old child affected by acute respiratory distress syndrome (ARDS) due to asphyxy by gastric juice inhalation, successfully tr...
journal_title:Minerva pediatrica
pub_type: 杂志文章
doi:
更新日期:2007-12-01 00:00:00
abstract:AIM:Recently, it was reported that the development of breast tissue and secondary sex characteristics in girls occurred at much younger age and the incidences of premature thelarce (PT) and central idiopathic precocious puberty (ICPP) are increasing. In this context, we wanted to evaluate the mycoestrogen exposure as t...
journal_title:Minerva pediatrica
pub_type: 杂志文章
doi:
更新日期:2014-12-01 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::The Authors describe a case report of a girl of 7 years affected by visceral leishmaniasis (VL) complicated by herpes zoster (Hz). Hz infection is unusual in paediatric age, but it may complicate immunodeficiency states. VL causes, as well known, T cell immunity depression: Hz infection could be facilitated by this si...
journal_title:Minerva pediatrica
pub_type: 杂志文章
doi:
更新日期:1992-01-01 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:The nutritional status of foster children, the quality of daily menus in group homes and the food security inside these organizations have been poorly studied. For this reason, the aim of this study was to investigate them. METHODS:A sample of 125 children, ranging in age from 0-17 years, among seven group ...
journal_title:Minerva pediatrica
pub_type: 杂志文章
doi:10.23736/S0026-4946.16.04802-7
更新日期:2020-12-01 00:00:00
abstract::A survey was carried out within the framework of the Association of Hospital Pediatricians (APO) on the implementation of the pediatric structure in Pediatric hospitals wards in Piedmont during 1990. There was a 100% adhesion rate. It was found that only in 7 out of 36 hospitals were children always admitted to the Pe...
journal_title:Minerva pediatrica
pub_type: 杂志文章
doi:
更新日期:1996-09-01 00:00:00
abstract:AIM:Pectus excavatum is the commonest thoracic congenital malformation, but its treatment remains not well known. The authors present the results of the mini-invasive repair at G. Gaslini Institute of Genoa, Italy. METHODS:Nuss mini-invasive repair avoids anterior scars. The correction is achieved by the introduction ...
journal_title:Minerva pediatrica
pub_type: 杂志文章
doi:
更新日期:2008-08-01 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: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::Heart failure can be defined as the inability of the heart to sufficiently support the circulation. In the fetus, heart failure can be caused by a myriad of factors that include fetal shunting abnormalities, genetic cardiomyopathies, extracardiac malformations, arrhythmias and structural congenital heart disease. With...
journal_title:Minerva pediatrica
pub_type: 杂志文章,评审
doi:
更新日期:2012-10-01 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:BACKGROUND:Persistent chylothorax in children is rare. Conservative management represents the gold standard but, in case of failure (persistent effusion or relapse), surgery must be considered. This paper aimed at presenting our series of patients who underwent surgical treatment of persistent idiopathic chylothorax an...
journal_title:Minerva pediatrica
pub_type: 杂志文章
doi:10.23736/S0026-4946.16.04324-3
更新日期:2017-12-01 00:00:00
abstract::Cerebral palsy (CP) is a description of a spectrum of central nervous system (CNS) impairments that affect mobility, communication, intellectual ability, and neurobehavior as a result of developmental brain dysfunction. CP is the most common contributor to motor disability in children with prevalence of about 2-3/1000...
journal_title:Minerva pediatrica
pub_type: 杂志文章,评审
doi:
更新日期:2009-08-01 00:00:00
abstract::Some reports have been published concerning the positive effects of using intravenous immunoglobulins as immunotherapy and immunoprophylaxis of infection in newborns. The safety and efficacy of intravenously administered gamma globulins 7S versus 5S was evaluated in 64 high-risk neonates. The infants admitted to this ...
journal_title:Minerva pediatrica
pub_type: 临床试验,杂志文章
doi:
更新日期:1990-01-01 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::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::This work aims at describing a particular case of Budd-Chiari syndrome in a ten-year-old girl. In our patient, the subjective and objective features of this disease, which is already rare during childhood, are associated with a well-assessed polyposis in the blind intestine (intestinum caecum). In our opinion, a possi...
journal_title:Minerva pediatrica
pub_type: 杂志文章
doi:
更新日期:1995-06-01 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: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:BACKGROUND:Hirschsprung's disease is an important cause of pediatric constipation with high risk of bacterial enterocolitis. Its diagnosis is histological and the suction biopsy is the gold standard. In resource-limited countries, the main diagnostic exam is the contrast enema and mini-invasive surgery lacks. We presen...
journal_title:Minerva pediatrica
pub_type: 杂志文章
doi:10.23736/S0026-4946.19.05487-2
更新日期:2019-03-21 00:00:00
abstract::Distinguishing between constitutional delay of growth and puberty (CDGP) and congenital hypogonadotropic hypogonadism (CHH) may be challenging. CDGP and CHH appear to belong to the same clinical spectrum (with low sex hormones and low LH and FSH), although one is classically transient and known as a self-limited form ...
journal_title:Minerva pediatrica
pub_type: 杂志文章
doi:10.23736/S0026-4946.20.05860-0
更新日期:2020-08-01 00:00:00
abstract::This study describes the blood pressure (BP), heart rate and weight distribution of 1214 school-age children (6-11 years old) in Messina. The systolic BP is significantly correlated with weight in every age and in both sexes. The incidence of BP values equal or above the 95 degrees percentile are significantly higher ...
journal_title:Minerva pediatrica
pub_type: 杂志文章
doi:
更新日期:1990-04-01 00:00:00
abstract::Testosterone, LH, FSH, blood levels at birth were determined in 40 Italian true cryptorchid , 12 pseudo-cryptorchid and 71 healthy newborns. Testosterone concentrations were interpreted according to the localisation of the retained testicles. A greater incidence of spontaneous remission of the cryptorchidism was found...
journal_title:Minerva pediatrica
pub_type: 杂志文章
doi:
更新日期:1989-01-01 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::GER is the passage of gastric contents into the esophagus and is referred to as GER disease (GERD) when GER causes troublesome symptoms and/or complications. GERD in infants and children is sometimes difficult to diagnose and even more difficult to treat. The diagnosis of GERD is hampered by the fact that GER symptoms...
journal_title:Minerva pediatrica
pub_type: 杂志文章,评审
doi:
更新日期:2012-02-01 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::To establish the effectiveness of flunisolide + salbutamol vs salbutamol alone administered by metered aerosol in the phlogistic obstructive diseases, 18 children were evaluated. The treatments were evaluated on the basis of ventilatory function parameters and of tolerance. The results proved positive for all drugs, t...
journal_title:Minerva pediatrica
pub_type: 临床试验,杂志文章,随机对照试验
doi:
更新日期:1990-06-01 00:00:00