Abstract：
:In 1967 a baby was observed who presented post-natal progressive growth deficit, mental retardation, craniofacial dysmorphias and other malformations which didn't form part of the syndromes till then known. However the first description of patients with this combination of anomalies dates back to 1981, when Niikawa and Kuroki described the main clinical signs which characterize the syndromic table. The size and weight deficit is progressive and it reveals itself during the first year of life. The features of the face are like the make-up of kabuki actors, the word from which the denomination comes. The mental retardation is of a slight degree; there is also a retardation in the acquisition of evolutive psychomotor stages. Speech is not very structured, it begins with the first syllables at about three years and remains poor with close, unclear and tied words. Other elements which define the syndrome are: the skeleton anomalies, dermatoglyphic anomalies, cardiological and renal anomalies. The aetiology is still unknown; it is thought that it may be X-linked or autosomal predominant transmission by new mutation. The genetic analysis has shown chromosomic anomalies only in a few cases. The rareness of the syndrome and the unmistakable clinical characteristics which make diagnosis possible leads to a description of three new case. All cases present a post-natal deficit of growth, psychomotor and/or mental retardation, autistic traits, dysmorphic facies, skeleton anomalies, partial epilepsy; two cases present cardiovascular defects. In one case the GH-dependent deficit of size has been corrected by hormonal treatment.
journal_name
Minerva Pediatrjournal_title
Minerva pediatricaauthors
Roccella Mkeywords:
subject
Has Abstractpub_date
1999-07-01 00:00:00pages
271-8issue
7-8eissn
0026-4946issn
1827-1715journal_volume
51pub_type
杂志文章,评审abstract：BACKGROUND:Kuwait is one of the Arab countries with the highest prevalence of overweight or obesity. However, few studies have described the prevalence of obesity in this country. The aim of this study is to describe the prevalence of overweight and obesity among Kuwaiti adolescents; and to examine the association of o...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：10.23736/S0026-4946.18.04911-3
更新日期：2019-08-01 00:00:00
abstract：:The nailfold capillaroscopy allows to study the microcirculation: for its simple and rapid execution it can be used also in children. We examined the nailfold capillaroscopy features in childhood and valued the maturation of microcirculation in connection to age and presented some pathologic patterns. We studied nailf...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：1996-07-01 00:00:00
abstract：:The study of children with focal brain injury has important implications from a clinical and theoretical perspective. Clinical data on children with congenital or early acquired lesions indicates that the cognitive sequelae are different from those resulting from similar damage sustained in adulthood. These difference...
journal_title：Minerva pediatrica
pub_type： 杂志文章,评审
doi：
更新日期：1993-06-01 00:00:00
abstract：BACKGROUND:The aim of this study is to investigate the use of methylene blue in perioperative identification of the patent processus vaginalis in a group of boys presenting with congenital or recurrent hydrocele where surgery was performed by junior surgeons in training. METHODS:We retrospectively reviewed the notes o...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：10.23736/S0026-4946.17.04661-8
更新日期：2020-04-01 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：:Familiar genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis complex (TSC), oculocutaneous albinism (OCA), basal cell nevus syndrome (BCNS), incontinentia pigmenti, ichthyosis, and epidermolysis bullosa (EB) have prominent, cutaneous manifestations. This review describes recent advances in kno...
journal_title：Minerva pediatrica
pub_type： 杂志文章,评审
doi：10.23736/S0026-4946.17.04925-8
更新日期：2017-08-01 00:00:00
abstract：BACKGROUND:Neonatal morbidity and mortality differ between very preterm infants that result from single and those that result from a multiple order pregnancy. The aim of our study was to assess and compare the neonatal morbidity and mortality of multiple versus single very preterm infants. METHODS:Obstetrical and neon...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：10.23736/S0026-4946.19.05592-0
更新日期：2019-11-05 00:00:00
abstract：AIM:Childhood leukaemia treatment contains multiple chemotherapeutic agents in high doses that can cause severe toxic effects on heart and other vital organs. In this respect patients taking cancer chemotherapy are followed for these adverse effects. Echocardiographic myocardial performance index (MPI) was reported as ...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2007-04-01 00:00:00
abstract：:A case of phakomatosis pigmentovascularis type IIa in a, short stature, 6-year old girl with nevus flammeus of the face and palate, bilateral ocular melanosis, aberrant mongolian spots and minor dysmorphic traits is reported. The patient has been considered at risk for glaucoma and ocular melanoma and an ophthalmologi...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：1996-05-01 00:00:00
abstract：:The past 10 years have seen a return of rickets. Clinical and/or biochemical signs of vitamin D deficiency are still found in some children and adolescents, mainly during the winter. Sunlight exposure is able to prevent vitamin D deficiency and rickets but the dramatic influence of changes in solar ultraviolet-B radia...
journal_title：Minerva pediatrica
pub_type： 杂志文章,评审
doi：
更新日期：1992-11-01 00:00:00
abstract：:Idiopathic pulmonary fibrosis is characterized by radiographically evident interstitial infiltrates and progressive dyspnea with rapid decline of overall lung functions. The clinical course of this disease is highly variable; however, its prognosis remains poor without adequate and prompt therapeutical support. Due to...
journal_title：Minerva pediatrica
pub_type： 杂志文章,评审
doi：
更新日期：2004-04-01 00:00:00
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：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：: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：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：: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：:Between 1998 and 2000, four newborns have been observed for laryngeal stridor occurred some hours after birth. Otorhinolaryngologic examinations, as well as cardiac, neuroradiologic and serologic investigations have been performed to formulate the diagnosis and verify the etiology. The fiberoptic laryngoscopy showed a...
journal_title：Minerva pediatrica
pub_type： 杂志文章,评审
doi：
更新日期：2002-04-01 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：:Neonatal analgesia is a recent issue: newborns were supposed to feel no pain until the late "80s; but from that date, many studies were performed to verify the extent of neonates" pain perception, ways to measure and overcome it. Pain can have harmful consequences in babies, due to several causes, and we investigated ...
journal_title：Minerva pediatrica
pub_type： 杂志文章,评审
doi：
更新日期：2010-06-01 00:00:00
abstract：BACKGROUND:The aim of this study is to investigate the changes of developmental and behavioral profile in a domestic adoptees sample. METHODS:Thirty-six domestic adoptive families were recruited, resulting in a sample of 39 children. Families were sent a general questionnaire for collecting data related to the childre...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2020-10-01 00:00:00
abstract：:Noonan syndrome was first described over 20 years ago by Noonan and Ehmke. They defined a specific group of nine patients with valvular pulmonary stenosis who, in addition, had short stature, mild mental retardation, hypertelorism and unusual facies. The incidence of Noonan syndrome has been estimated to be between 1 ...
journal_title：Minerva pediatrica
pub_type： 杂志文章,评审
doi：
更新日期：1993-09-01 00:00:00
abstract：BACKGROUND:Infections due to carbapenem resistant pathogens have become a major health threat especially for hospitalized patients. Acinetobacter baumanii (AB) and Pseudomonas aeruginosa (PA) are important pathogens causing ventilator-associated pneumonia (VAP) with a trend of high resistance to carbapenems. The aim of...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：10.23736/S0026-4946.17.04284-0
更新日期：2019-08-01 00:00:00
abstract：AIM:Aim of this study is to evaluate anxiety and temperament characteristics in developmental age subjects who practised agonistic sport (individual or team sports) in comparison with a sample group of subjects who practice no agonistic sports. METHODS:Sixty subjects aged from 10 to 16 years were enrolled in the study...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2004-02-01 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：:Cannabis poisoning is rarely reported in young children. We present the case of a child twenty months old admitted to the Emergency Room because of sopor, hypotonia and miosis. This is the first out of 1150 poisonings under the age of five registered at Trieste between 1975-1992. Cannabis poisoning has to be considere...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：1994-07-01 00:00:00
abstract：INTRODUCTION:Online grooming is an active communicative entrapment network involving a wide range of techniques. The interactions that groomers have with minors online are complex. The purpose of the present literature review is to contribute to the existing knowledge base regarding online sex offender typologies, pred...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：10.23736/S0026-4946.20.05621-2
更新日期：2020-05-15 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：:Joint hypermobility refers to the ability that a joint has to move beyond its normal range of motion. It is common in the general population, particularly in children. While many individuals manifesting joint hypermobility are healthy, this feature can accompany a wide range of symptoms and systemic disorders, whose m...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：10.23736/S0026-4946.20.05766-7
更新日期：2020-04-01 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：:The care of adolescents suffering from high risk disease is a demanding challenge. At times, adolescents may well be too old for the pediatrician and Pediatric Units, and yet too young for the adult practitioner. A dedicated approach that builds on the insight deriving from special attention to, and reflection on the ...
journal_title：Minerva pediatrica
pub_type： 社论
doi：
更新日期：2011-04-01 00:00:00
