[Remarks on a clinical case of partial carbamyl phosphate synthetase deficiency].

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 Pediatr

journal_title

Minerva pediatrica

authors

Gomirato G,Giaretto G,Bonomi A,Rossi E,Rovere A,Radeschi G,Crosato M

subject

Has Abstract

pub_date

1989-02-01 00:00:00

pages

105-8

issue

2

eissn

0026-4946

issn

1827-1715

journal_volume

41

pub_type

杂志文章
  • The impact of intrauterine growth restriction on respiratory outcomes.

    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

    authors: Oliveira B,Flôr-DE-Lima F,Rocha G,Rodrigues M,Ladeiras R,Guimarães H

    更新日期:2017-05-31 00:00:00

  • [Psychopathological risk in children with early onset of partial epilepsy].

    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:

    authors: Bargagna S,Guerrini R,Millepiedi S

    更新日期:1995-05-01 00:00:00

  • Use of natural surfactant in an infant with aspiration syndrome.

    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:

    authors: Bisceglia M,Verre M,Tancioni F,Piccirillo M,Corapi UP,Barozzi E,Vulcano S

    更新日期:2007-12-01 00:00:00

  • Urinary zearalenone levels in girls with premature thelarche and idiopathic central precocious puberty.

    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:

    authors: Asci A,Durmaz E,Erkekoglu P,Pasli D,Bircan I,Kocer-Gumusel B

    更新日期:2014-12-01 00:00:00

  • [Medico-legal investigation of Sudden Infant Death Syndrome (SIDS): differential diagnosis between natural and unnatural death].

    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:

    authors: Ventura F,Portunato F,Celesti R

    更新日期:2010-04-01 00:00:00

  • [Visceral leishmaniasis complicated by herpes zoster. An unusual case in the pediatric age].

    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:

    authors: Di Martino L,Nocerino A,Pettoello M,Toscano P,Franzese A,Di Maio S

    更新日期:1992-01-01 00:00:00

  • What is the current role for parenteral lipid emulsions containing omega-3 fatty acids in infants with short bowel syndrome?

    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:

    authors: Diamond IR,Pencharz PB,Wales PW

    更新日期:2009-06-01 00:00:00

  • Food security and nutritional status of children in foster care: new horizons in the protection of a fragile population.

    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

    authors: Ferrara P,Scancarello M,Khazrai YM,Romani L,Cutrona C,DE Gara L,Bona G

    更新日期:2020-12-01 00:00:00

  • [Implementation of the pediatric services in the region of Piedmont. A Piedmont pediatric team].

    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:

    authors: Cerruti Mainardi P,Repinto A,Guala A,Pastore G

    更新日期:1996-09-01 00:00:00

  • [The treatment of pectus excavatum: results of a mininvasive surgical technique on the first 50 patients].

    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:

    authors: Torre M,Mameli L,Montobbio G,Asquasciati C,Campanella V,Ferrari C,Jasonni V

    更新日期:2008-08-01 00:00:00

  • [Right of the adolescent to health protection according to Italian legislation].

    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:

    authors: Schwarzenberg TL

    更新日期:1983-04-30 00:00:00

  • Identification of obesity in children and teenagers.

    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

    authors: Alberti A,Ruiz Reyes MA,De Jesus JA,Rossoni C,Grigollo L,Da Silva BB,Fin G,Baretta E,Comim CM,Nodari RJ Jr

    更新日期:2021-01-13 00:00:00

  • Diagnosis and management of heart failure in the fetus.

    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:

    authors: Davey B,Szwast A,Rychik J

    更新日期:2012-10-01 00:00:00

  • Systolic and diastolic dysfunction in the intensive care unit.

    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:

    authors: Sasaki N,Srivastava S

    更新日期:2011-10-01 00:00:00

  • Sixteen years of experience with persistent chylothorax in children.

    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

    authors: Pini Prato A,Bava GL,Dalmonte P,Vercellino N,Michelazzi A,Pio L,Avanzini S,Mattioli G

    更新日期:2017-12-01 00:00:00

  • Neuroimaging and cerebral palsy in children.

    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:

    authors: Msall ME,Limperopoulos C,Park JJ

    更新日期:2009-08-01 00:00:00

  • [Intravenous immunoglobulins in newborn infants at risk of infection. Comparative efficacy of preparations 7S and 5S].

    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:

    authors: Bonanno Conti MI

    更新日期:1990-01-01 00:00:00

  • Intermittent treatment with high dose nebulized beclomethasone for recurrent wheezing in infants due to upper respiratory tract infection.

    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:

    authors: Ghirga G,Ghirga P,Fagioli S,Colaiacomo M

    更新日期:2002-06-01 00:00:00

  • Psychosocial aspects of survivors of childhood cancer or leukemia.

    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:

    authors: Massimo L,Zarri D,Caprino D

    更新日期:2005-12-01 00:00:00

  • [Budd-Chiari syndrome in children: case report].

    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:

    authors: Tucciarone L,Tomassini A,Stella P,Matrunola M,Di Nardo R,Ricci P

    更新日期:1995-06-01 00:00:00

  • Timely diagnosis of comorbid pervasive developmental disorder and bipolar disorder.

    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:

    authors: McDonnell MA,Hamrin V,Moffett J,Durso S

    更新日期:2008-02-01 00:00:00

  • [Survey of physical activity and doping in a sample of 6,915 students aged 14-18 years].

    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:

    authors: Bassoli L,Boncinelli S,Brizzi L,Curci R,Signorelli D,Pazardjiklian I,Pellai A

    更新日期:2004-06-01 00:00:00

  • Non-standard approach to infants and children with megacolon: laparotomy and endorectal pull-through (ERPT) for diagnosis and treatment in difficult countries with low resources in a non-profit setting: return to the past Soave's ERPT.

    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

    authors: Mattioli G,Osnel L,Wong MC,Palo F,Faticato MG,Petralia P

    更新日期:2019-03-21 00:00:00

  • Pubertal delay: the challenge of a timely differential diagnosis between congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty.

    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

    authors: Bollino A,Cangiano B,Goggi G,Federici S,Duminuco P,Giovanelli L,Galazzi E,Vezzoli V,Persani L,Bonomi M

    更新日期:2020-08-01 00:00:00

  • [Development of percentile curves of arterial pressure of a school population of children aged 6-11 years].

    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:

    authors: Manganaro R,De Luca F,Lo Sciotto P,Lombardo F,Santisi G,Mamì C

    更新日期:1990-04-01 00:00:00

  • [Blood testosterone in cryptorchid newborn infants: does it have a prognostic significance?].

    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:

    authors: Di Comite A,De Vita L,Pierucci I,Pilone R,Cristiano L,D'Elia R,Gaudio R,Manente G

    更新日期:1989-01-01 00:00:00

  • Telerehabilitation in developmental dyslexia: methods of implementation and expected results.

    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

    authors: Pecini C,Spoglianti S,Michetti S,Bonetti S,Di Lieto MC,Gasperini F,Cristofani P,Bozza M,Brizzolara D,Casalini C,Mazzotti S,Salvadorini R,Bargagna S,Chilosi AM

    更新日期:2018-12-01 00:00:00

  • Gastroesophageal reflux in pediatrics; (patho)physiology and new insights in diagnostics and treatment.

    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:

    authors: Loots CM,Benninga MA,Omari TI

    更新日期:2012-02-01 00:00:00

  • [Iodine status in historically iodine deficiency area].

    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:

    authors: Lonati S,Rapa A,Di Dio G,Bellone S,Bona G

    更新日期:2006-06-01 00:00:00

  • [Clinico-functional evaluation of flunisolide + salbutamol combination (VAL 679/A) vs salbutamol in pediatric patients].

    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:

    authors: Guarnaccia S,Pasquali M,Acerbis F,Pedrali M,Duse M,Ugazio AG

    更新日期:1990-06-01 00:00:00