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 knowledge concerning the pathophysiology, diagnosis, and treatment of these skin features. Specifically, clinical diagnostic criteria for incontinentia pigmenti, ichthyosis, and tuberous sclerosis have been updated. Additionally, there have been considerable advancements in the technology used in the molecular diagnoses of these conditions. In the case of TSC, the discovery that a portion of TSC mutations are missed due to mosaicism is driving the development of new diagnostic methods. Also, scientists are also seeking minimally invasive methods of genetic diagnosis, as in the case of using hair follicles to diagnose autosomal recessive congenital ichythosis (ARCI). Finally, there are innovative targeted medical therapies being developed that serve as promising tools in the care of patients afflicted with conditions including ichthyosis and EB.
journal_name
Minerva Pediatrjournal_title
Minerva pediatricaauthors
Ma JE,Hand JLdoi
10.23736/S0026-4946.17.04925-8subject
Has Abstractpub_date
2017-08-01 00:00:00pages
288-297issue
4eissn
0026-4946issn
1827-1715pii
S0026-4946.17.04925-8journal_volume
69pub_type
杂志文章,评审abstract：:Syringocele is a cystic dilation of the excretory bulbourethral Cowper gland duct, and is a rather uncommon finding in pediatric age. It is frequently asymptomatic but sometimes may cause voiding symptoms and urinary tract infection (UTI). This case report describes an unusual manifestation of syringocele presenting w...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2009-02-01 00:00:00
abstract：BACKGROUND:Atopic dermatitis (AD) is a very common chronic inflammatory and eczematous skin condition characterized by flares and remissions. Skin barrier alteration or dysfunction is the most relevant patogenetic factor. Topical corticosteroids are the mainstay treatment of AD, especially during flare periods. The dai...
journal_title：Minerva pediatrica
pub_type： 临床试验,杂志文章,多中心研究
doi：10.23736/S0026-4946.17.05015-0
更新日期：2017-12-01 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：:Non-alcoholic fatty liver disease (NAFLD) encompasses a range of liver histology severity and outcomes in the absence of chronic alcohol use. The mildest form is simple steatosis in which triglycerides accumulate within hepatocytes. A more advanced form of NAFLD, non-alcoholic steatohepatitis (NASH), includes inflamma...
journal_title：Minerva pediatrica
pub_type： 杂志文章,评审
doi：
更新日期：2010-12-01 00:00:00
abstract：:Aspecific chronic diarrhea is one of the most common causes of protracted diarrhea in infancy. The pathology is characterised by an increased frequency of daily bowel movement with half-formed feces; it is not associated to malabsorption syndrome or enteric infections and appears to be correlated to an unbalanced diet...
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：1990-04-01 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：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：:The association of congenital anal stenosis, or other anal and rectal malformation, sacral defect and a presacral mass is known as the Currarino syndrome described for the first time in 1981. Currarino et al. proposed that abnormal endoectodermal adhesions and notochordal defects in early fetal life may result in a fi...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2005-06-01 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：AIM:Despite the availability of a number of pharmacological options, relief of allergic rhinitis (AR) symptoms, especially nasal obstruction, is often limited and local and systemic adverse reactions are not infrequent. The main aim of the present pilot study was to provide subjective and objective evidence of the clin...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2015-06-01 00:00:00
abstract：:The gynaecological approach with the adolescent is always complex, arduous and also stimulating. It is necessary to acquire specific knowledge, to understand that the adolescent is always searching for his identity and that the most important request is that the normality. The first impact is fundamental, understandin...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2002-12-01 00:00:00
abstract：:The paper illustrates the characteristics of external fixators (EF) (Wagner, FEA, Ilizarov) regularly used in pediatric surgery. Attention is focused on the indications for their use in orthopedics and traumatology during the developmental age. In conclusion, their use, even though in traumatology this is more restric...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：1991-01-01 00:00:00
abstract：AIM:To evaluate the possible effects of recombinant growth hormone (rhGH) therapy on mineral homeostasis and bone turnover, the authors studied calcium-phosphate metabolism parameters, including some bone markers, in 2 prepubertal subjects with Noonan's syndrome (NS). METHODS:Two prepubertal males suffering from NS, s...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2003-12-01 00:00:00
abstract：:Anti-endomysium antibodies (AEA) and Antigliadin antibodies (AGA) have been compared in a group of coeliac patients (17 with untreated coeliac disease, 56 after gluten free diet and 14 after gluten challenge), in 69 patients with various intestinal pathological conditions, and in 40 healthy children, in order to appre...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：1993-01-01 00:00:00
abstract：:In the present study the authors investigated the normal range of the marker TPA in the sera of 100 children (apparently healthy) aged from 0 to 6 years. Well-defined criteria as guide-lines to the interpretation of laboratory results are a very urgent necessity for the expanding utilization of clinical laboratory dat...
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：1994-11-01 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：: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：:Asthma therapy recognizes three fundamental key points: primary prevention, secondary prevention, including the control of inflammatory mechanisms and related symptoms, and tertiary prevention, consisting in the treatment of the early phases leading to airway remodelling. As for primary prevention in infants at ''high...
journal_title：Minerva pediatrica
pub_type： 杂志文章,评审
doi：
更新日期：2008-04-01 00:00:00
abstract：:In a short girl with celiac disease and Hashimoto's thyroiditis (HT), suspicion of an associated pituitary lesion was suggested by the finding of a thyroid function pattern that was not compatible with HT-related hypothyroidism (low FT4 with normal TSH). This case report reinforces the view that the finding of a norma...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2016-04-01 00:00:00
abstract：BACKGROUND:The aim of this study was to determine serum pancreatic stone protein (PSP) levels in the neonates with highly probable or probable sepsis and assess their possible value in predicting infected neonates. METHODS:This was a prospective study involving 119 neonates who were admitted with suspected sepsis. The...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：10.23736/S0026-4946.16.04317-X
更新日期：2017-12-01 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
abstract：:One may have only minutes to change the trajectory of a child who is deteriorating from either congenital or acquired cardiac disease. However, these children may present with rather cryptic patterns of symptoms (e.g. failure to thrive, lethargy, colic, neonatal shock, respiratory distress, wheezing and syncope with e...
journal_title：Minerva pediatrica
pub_type： 杂志文章,评审
doi：
更新日期：2009-04-01 00:00:00
abstract：:This is the first scientific study on Mary Sandrucci, who has been director of the Pediatric Clinic of the University of Turin from 1965-1966 up to 31 December 1989. Prof. Sandrucci led major studies on congenital heart disease, was the first Italian and among the first in Europe to describe phocomelia cases, to repor...
journal_title：Minerva pediatrica
pub_type： 传,历史文章,杂志文章
doi：
更新日期：2011-04-01 00:00:00
abstract：AIM:This study analyses the organisational aspects and the volume of milk managed by the donated breast milk bank (banca del latte umano donato, BLUD) in Treviso. METHODS:The data gathered refer to the years 2003, 2004 and 2005. In particular the hygiene methodology is described in order to obtain a high-quality produ...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：2007-08-01 00:00:00
abstract：:In 113 children with atopic dermatitis RAST results for 9 food mixtures were analyzed. Sixty-eight children (60%) were RAST positive (greater than or equal to ++) for one or more mixture and 87% of those RAST positive had specific IgE for egg and/or cereals and/or legumes. Sensitization to egg, cow milk and meat was m...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：1989-03-01 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：BACKGROUND:Recent developments regarding the conservative management of multicystic dysplastic kidney disease (MDKD) have shown a reduction in the well-established practice of elective surgical treatment. It has been seen that in the majority of cases the evolution of MDKD is either partial or complete atrophy. The inc...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：1997-05-01 00:00:00
abstract：:A study was carried out to characterize in the growing skeleton the absorptiometric measurement of the ultradistal radial epiphysis where the trabecular bone is higher than at proximal scanning planes. The study showed that a radius scan, 1 to 1.4 cm proximal to the ulnar tip, and consequently 4 to 6 mm proximal to th...
journal_title：Minerva pediatrica
pub_type： 杂志文章
doi：
更新日期：1991-07-01 00:00:00
abstract：:This article provides current guidelines on the treatment and prevention of childhood obesity. Since factors involved in obesity change with age, the therapeutic approach in pre-school children will be different from pupils and adolescents. The treatment will also be modulated on the basis of weight excess, weight gai...
journal_title：Minerva pediatrica
pub_type： 指南,杂志文章,实务指引
doi：
更新日期：2003-10-01 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
