Abstract：
:We report on a young patient who suffered from diabetes mellitus and neurosensorial deafness from the age of two. One year later she was noted to have deteriorated vision and the diagnosis of optic atrophy was made, her visual acuity decreased progressively. At the age of six she was admitted to our hospital because of thiamine responsive megaloblastic anemia, a rare clinical feature of Wolfram's syndrome (only 13 cases have been reported to date). Thiamine (75 mg/day) was commenced at a single oral dose with a rapid increase of Hb level after a few days of therapy. The insulin requirement didn't decrease during thiamine therapy, the C-peptide level after glucagon remained almost indosable. No improvement was observed in the deafness and in the optic atrophy. These findings suggest that diabetes mellitus and optic atrophy, in Wolfram's syndrome are not related to thiamine metabolism.
journal_name
Minerva Pediatrjournal_title
Minerva pediatricaauthors
Marietti G,Bizzarri C,Perrone F,Zampino G,Conti G,Falsini B,Ricci Bsubject
Has Abstractpub_date
1995-04-01 00:00:00pages
127-30issue
4eissn
0026-4946issn
1827-1715journal_volume
47pub_type
杂志文章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：: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：AIM:The aim of this study was to evaluate the reaction to the procedural pain of preterm newborn and to demonstrate the different effectiveness of the two analgesic and not pharmacological techniques of recent clinical acquisition, the use of glucose solution and the sensorial saturation, in order to identify an optima...
journal_title：Minerva pediatrica
pub_type： 杂志文章,随机对照试验
doi：
更新日期：2011-08-01 00:00:00
abstract：:Cystic fibrosis (CF) is a genetic disease associated with recurrent lung infections, that represent a major cause of mortality and morbidity. Cystic fibrosis requires frequent antibiotic treatments, sometimes by mouth or via aerosol but often via the intravenous route. Totally implanted venous access devices (ports) a...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2009-10-01 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：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：: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: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：AIM:To verify the efficacy of botulinus toxin A (TB-A) in treating children with neuropathic bladder secondary to myelomeningocele (MMC) with detrusor hyperactivity/low compliance, resistance to pharmacological therapy, and candidates for enterocystoplasty. METHODS:From January 2002 to June 2003, a group of 7 patients...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2005-02-01 00:00:00
abstract：:We are currently witnessing a worldwide return of tuberculosis. An extremely rare form is tuberculosis of the spine which is reported above all in extra-European studies. The authors report a case of Pott's disease in a child aged 3 years and 3 months who was referred to their attention due to the appearance of left i...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：1994-06-01 00:00:00
abstract：BACKGROUND:To document the evolution of cranial asymmetries in infants with signs of nonsynostotic occipital plagiocephaly (NSOP) who were undergo to many functional manual therapy treatments (in addition to the standard positioning recommendations) as well as to determine the feasibility of this methodology to conduct...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：10.23736/S0026-4946.17.04838-1
更新日期：2017-10-25 00:00:00
abstract：:Hydrocephalus associated with aqueductal stenosis is not uncommon after the 2nd year of life. In some patients, stenosis is due to slow-growing periaqueductal tumors that can only be revealed by magnetic resonance examination. We reviewed 31 cases of children with aqueductal stenosis and hydrocephalus diagnosed after ...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：1995-12-01 00:00:00
abstract：:We studied 13 children and adolescents during diabetic ketoacidosis; the duration of diabetes ranged from 1.4 to 6.0 years. A group of 13 diabetic sex, age and duration of disease-matched children served as control. Patients in ketoacidosis showed important abnormalities of T subset percentages (OKT3: 63.4 +/- 1.87% v...
journal_title：Minerva pediatrica
pub_type： 临床试验,杂志文章
doi：
更新日期：1992-05-01 00:00:00
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 t...
journal_title：Minerva pediatrica
pub_type： 杂志文章,评审
doi：10.23736/S0026-4946.19.05506-3
更新日期：2019-06-01 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：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 authors report 3 cases of cytochrome-c-oxidase deficiency (2 cases of Kearns-Sayre syndrome and 1 case of chronic progressive external ophthalmoplegia) with Central Nervous System alterations and facial anomalies. The facial anomalies are high forehead, wide nasal bridge, upturned nose, long and flat philtrum (alt...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2004-10-01 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：:Certain humoral and cellular immunological parameters were assessed in patients with either pure atopic dermatitis or dermatitis combined with asthma in order to discover if there were any significant differences between the two clinical forms. The study was conducted on 15 children of both sexes who were investigated...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：1989-05-01 00:00:00
abstract：:QT prolongation is rarely seen after acute stress reactions such as burn injury and severe head trauma. Although pathophysiologic mechanism is not entirely clear, acute stress is thought to contribute to the inhomogeneity of ventricular repolarization and it is hypothesized that QTc dispersion increases with severity ...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2006-12-01 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：: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：:Congenital diaphragmatic hernia (CDH) remains one of the major challenges in neonatal surgery. Survival rate has increased in the last decades mainly due to perinatal care and surgical technique improvements. Classically, a laparotomy has been performed after cardiovascular and respiratory stabilization. Introduction ...
journal_title：Minerva pediatrica
pub_type： 杂志文章,评审
doi：10.23736/S0026-4946.17.05110-6
更新日期：2018-06-01 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：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：:The case of a six-year-old girl suffering from recurrent abdominal pain is reported. On the basis of the laboratory tests and a number of other clinical investigations, the diagnosis of ascaridiasis was made. At scanning electron microscopy the ultrastructural study of the bioptic fragments obtained during endoscopy s...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：1993-12-01 00:00:00
abstract：:The diagnosis of gastroesophageal reflux disease (GERD) has evolved from reliance on history and fluoroscopy to continuous esophageal pH monitoring with catheter-based pH probes and wireless pH probes to continuous impedance/pH monitoring. This review describes the currently employed diagnostic tests and the actual ma...
journal_title：Minerva pediatrica
pub_type： 杂志文章,评审
doi：
更新日期：2012-12-01 00:00:00
abstract：:Post-traumatic stress disorder (PTSD) is a common psychiatric disorder which is frequently comorbid with major depressive disorder (MDD). It has been suggested that some or all individuals diagnosed with comorbid PTSD and MDD have a separate psychobiological condition that can be termed ''post-traumatic mood disorder'...
journal_title：Minerva pediatrica
pub_type： 杂志文章,评审
doi：
更新日期：2008-12-01 00:00:00
abstract：:Varicella or chickenpox is a common and highly contagious exanthematic disease caused by the varicella-zoster virus (VZV) that during primary infection has the ability to establish latency. VZV reactivation, even decades after primary infection, causes herpes zoster. In healthy immunocompetent subjects, children in pa...
journal_title：Minerva pediatrica
pub_type： 杂志文章,评审
doi：
更新日期：2016-06-01 00:00:00
abstract：AIM:To evaluate the trend of infantile obesity in the school-aged population of Cremona over time. METHODS:The weight and height of all children aged 6, 9 and 11 attending schools within the health district of Cremona were measured for 9 consecutive years (January 1990-March 1998), giving a total of 17,730 measurement...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2000-01-01 00:00:00
