Search tips
Search criteria

Results 1-25 (578)

Clipboard (0)

Select a Filter Below

Year of Publication
1.  Legius syndrome: case report and review of literature 
A 8-month-old child was referred to our Dermatologic Unit for suspected Neurofibromatosis type 1 (NF 1), because of the appearance, since few days after birth, of numerous café-au-lait spots (seven larger than 5 mm); no other sign evocative of NF 1 was found. Her family history was remarkable for the presence of multiple café-au-lait spots in the mother, the grandfather and two aunts. The family had been already examined for NF 1, but no sign evocative of the disease was found. We then suspected Legius syndrome, a dominant disease characterized by a mild neurofibromatosis 1 phenotype. The diagnosis was confirmed by the finding of a mutation in SPRED1 gene, a feedback regulator of RAS/MAPK signaling. Here, we discuss the differential diagnosis of cafè-au-lait spots and we briefly review the existing literature about Legius syndrome.
PMCID: PMC4323213
Café-au-lait spots; Neurofibromatosis 1; Legius syndrome
2.  Molecular physiopathogenetic mechanisms and development of new potential therapeutic strategies in persistent pulmonary hypertension of the newborn 
Persistent pulmonary hypertension of the newborn (PPHN) is a cyanogenic plurifactorial disorder characterized by failed postnatal drop of pulmonary vascular resistance and maintenance of right-to-left shunt across ductus arteriosus and foramen ovale typical of intrauterine life. The pathogenesis of PPHN is very complex and can result from functional (vasoconstriction) or structural (arteriolar remodeling, reduced pulmonary vessels density) anomalies of pulmonary circulation. Etiopathogenetic factors heterogeneity can strongly condition therapeutical results and prognosis of PPHN that is particularly severe in organic forms that are usually refractory to selective pulmonary vasodilator therapy with inhaled nitric oxide. This paper reports the more recent acquisitions on molecular physiopathogenetic mechanisms underlying functional and structural forms of PPHN and illustrates the bases for adoption of new potential treatment strategies for organic PPHN. These strategies aim to reverse pulmonary vascular remodeling in PPHN with arteriolar smooth muscle hypertrophy and stimulate pulmonary vascular and alveolar growth in PPHN associated with lung hypoplasia.In order to restore lung growth in this severe form of PPHN, attention is focused on the results of studies of mesenchymal stem cells and their therapeutical paracrine effects on bronchopulmonry dysplasia, a chronic neonatal lung disease characterized by arrested vascular and alveolar growth and development of pulmonary hypertension.
PMCID: PMC4328557
Persistent neonatal pulmonary hypertension; Pulmonary vascular remodeling; Pulmonary vessels underdevelopment; Lung hypoplasia; Pulmonary vasodilative therapy; Stem cells based therapy
3.  Continuity of care in children with special healthcare needs: a qualitative study of family’s perspectives 
To explore parents’ experiences and perceptions on informational, management and relational continuity of care for children with special health care needs from hospitalization to the first months after discharge to the home.
Semi-structured interviews and a focus group were carried out to capture parents’ experiences and perceptions. Transcripts were analyzed using a directed approach to the qualitative content analysis.
16 families participated to this study: 13 were involved in interviews (10 face-to-face and 3 by phone) and 3 in a focus group, within 1–6 months after discharge from the University Hospital of Bologna (S.Orsola/Malpighi) and from hospitals of Bologna Province. To parents of children with special health care needs, the three domains of continuity of care were relevant in a whole but with different key elements during hospitalization, at discharge and after discharge. Moreover, empowerment emerged from parents’ narratives as essential to help parents cope with the transition from the hospital setting to the new responsibilities connected with the home care of their child. Parent’s perceptions about the family pediatrician concerned his/her centrality in the activation and coordination of the healthcare network. Moreover, parents exhibited different attitudes towards involvement in decision making: some wished and expected to be involved, others preferred not to be involved.
Care coordination for children with special care needs is a complex process that need to be attended to during the hospitalization phase and after discharge to the community. The findings of this study may contribute to elucidating the perceptions and experiences of parents with children with special health care needs about the continuity of care from hospital to community care.
Electronic supplementary material
The online version of this article (doi:10.1186/s13052-015-0114-x) contains supplementary material, which is available to authorized users.
PMCID: PMC4328636
Continuity of care; Children with special health care needs; Hospitalization; Discharge; Community; Qualitative study; Empowerment; Patient engagement; Parents’ perspective; Interview
4.  Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management 
Rubinstein-Taybi syndrome (RSTS) is an extremely rare autosomal dominant genetic disease, with an estimated prevalence of one case per 125,000 live births. RSTS is characterized by typical facial features, microcephaly, broad thumbs and first toes, intellectual disability, and postnatal growth retardation. However, no standard diagnostic criteria are available for RSTS. In this review, we summarized the clinical features and genetic basis of RSTS and highlighted areas for future studies on an appropriate diagnostic protocol and follow-up care for RSTS.
RSTS is primarily characterized by delayed growth in height and weight, microcephaly, dysmorphic facial features, and broad thumbs and big toe. Over 90% RSTS individuals with disabilities survive to adulthood, but healthcare for these patients is particularly complex, time-consuming, and costly. In addition, no standard diagnostic criteria and follow-up care guidelines are available for RSTS. It has been shown that mutations in the genes encoding the cyclic-AMP-regulated enhancer binding protein (CREBBP) and the E1A-binding protein p300 (EP300) contributed to the development of RSTS. Therefore, genetic tests are useful for the diagnosis of RSTS, although most RSTS cases are currently diagnosed based on clinical features.
The clinical features of RSTS have been extensively studied, which significantly contributes to the diagnosis of this extremely rare syndrome. However, the pathogenesis and genotype-phenotype associations of RSTS are largely unknown. Therefore, multicenter studies and international cooperation are highlighted for better understanding of this disease, establishing standard diagnostic criteria, and providing professional management and follow-up care of RSTS.
PMCID: PMC4308897  PMID: 25599811
CREBBP; Intellectual disability; Plurimalformative syndrome; Rubinstein syndrome; Rubinstein-Taybi syndrome
5.  Meningoencephalitis caused by Plesiomonas shigelloides in a Chinese neonate: case report and literature review 
The most usual presentation of Plesiomonas shigelloides infection is an acute gastroenteritis, and extraintestinal manifestations are extremely rare. We reported the first neonate with P. shigelloides meningoencephalitis in China and reviewed the twelve cases previously reported. Our report adds further awareness on Plesiomonas shigelloides meningoencephalitis in neonate and points out the importance of an early diagnosis and the use of sensitive antibiotics treatment to this fatal infection.
PMCID: PMC4311455  PMID: 25599746
Neonate; Plesiomonas shigelloides; Meningitis; Meningoencephalitis
6.  Acupuncture in the treatment of infantile colic 
Regarding the recently published review ”Looking for new treatments of Infantile Colic“ by Savino et al. we want to add that positive effects of acupuncture have been demonstrated to release pain and agitation and that acupuncture seems to be a safe treatment when performed by trained acupuncturists. Inconclusive results in the few published articles on the subject can be due to different acupuncture points, different insertion time, different needling methods, differences in the outcome variables, in how the crying was measured and insufficient sample sizes. Further research is needed on understanding the utility, safety, and effectiveness of acupuncture in infants with colic.
PMCID: PMC4299294  PMID: 25588517
Infantile colic; Acupuncture; Safety
7.  SETIL: Italian multicentric epidemiological case–control study on risk factors for childhood leukaemia, non hodgkin lymphoma and neuroblastoma: study population and prevalence of risk factors in Italy 
Aetiology of childhood leukaemia and childhood neoplasm is poorly understood. Information on the prevalence of risk factors in the childhood population is limited. SETIL is a population based case–control study on childhood leukaemia, conducted with two companion studies on non-Hodgkin Lymphoma (NHL) and neuroblastoma. The study relies on questionnaire interviews and 50 Hz magnetic field (ELF-MF) indoor measurements. This paper discusses the SETIL study design and includes descriptive information.
The study was carried out in 14 Italian regions (78.3% of Italian population aged 0–10). It included leukaemia, NHL and neuroblastoma cases incident in 0–10 year olds in 1998–2001, registered by the Italian Association of Paediatric Haematology and Oncology (AIEOP) (accrual over 95% of estimated incidence). Two controls for each leukaemia case were randomly sampled from the Local Health Authorities rolls, matched by gender, birthdate and residence. The same controls were used in NHL and neuroblastoma studies. Parents were interviewed at home on: physical agents (ELF-MF and ionizing radiation), chemicals (smoking, solvents, traffic, insecticides), occupation, medical and personal history of children and parents, infectious diseases, immunizations and associated factors. Occupational exposure was collected using job specific modules. ELF-MF was measured in the main rooms (spot measurement) and close to child’s bed (48 hours measurement).
The study included: 683 leukaemia cases (87% ALL, 13% AnLL), 97 NHL, 155 neuroblastomas, and 1044 controls.
ELF-MF long term measurements were obtained for 61.1% of controls and 81.6% of leukaemia cases; 8.8% of controls were exposed at over 0.1 microTesla (μT), 3.5% and 2.1% at respectively over 0.2 and 0.3 μT. 25% of controls’ fathers had smoked over 10 cigarettes/day during the year of conception, varying according to education and region. Maternal smoking was less common (71.4% did not smoke in pregnancy). Maternal passive smoking during pregnancy was reported by 31.2% of controls; the child’s passive smoking for 28.6%.
Occupational exposure to solvents was estimated in 18.3% of controls’ fathers and 7.7% of mothers. Contact with public was more frequent among mothers (36.1%) than fathers (23.4%).
SETIL represents a data source on exposure of Italian children to a broad array of potential carcinogenic factors.
Electronic supplementary material
The online version of this article (doi:10.1186/s13052-014-0103-5) contains supplementary material, which is available to authorized users.
PMCID: PMC4310183  PMID: 25539823
Leukaemia; Non hogdkin lymphoma; Neuroblastoma; Epidemiology; Risk factors
8.  “Risk factors of birth asphyxia” 
Birth asphyxia is an insult to the fetus or newborn due to failure to breath or breathing poorly, leads to decrease oxygen perfusion to various organs. According to WHO, 4 million neonatal deaths occurred each year due to birth asphyxia. Our goal was to evaluate antepartum, intrapartum, and fetal risk factors of birth asphyxia.
It was a Retrospective Case control study, conducted at Neonatal Intensive Care Unit of pediatric ward (I, II, III) and in Gynecology wards (I, II, III) of Civil Hospital Karachi, Dow University of Health Sciences. Study was conducted from January 2011-November 2012. Neonates diagnosed with birth asphyxia were considered as “cases” while neonates born either with normal vaginal delivery or by cesarean section having no abnormality were considered as “control”. Demographics of both the mother and neonate were noted and Questions regarding possible risk factors were asked from mother. Ethical issues were confirmed from Institutional review board of Civil Hospital Karachi, Dow University of Health Sciences. All data was entered and analyzed through SPSS 19.
Out of total 240 neonates, 123 were “cases” and 117 were “control”. Mean maternal age in “case” group was 24.22 ± 3.38 while maternal age of control group was 24.30 ± 4.04. Significant antepartum risk factors were maternal age of 20–25 (OR 0.30 CI 95% 0.07-1.21), booking status (OR 0.20 CI 95% 0.11-0.37), pre-eclampsia (OR 0.94 CI 95% 0.90-0.98) and primigravidity (OR 2.64 CI 95% 1.56-4.46). Significant Intrapartum risk factors were breech presentation (OR 2.96 CI 95% 1.25-7.02), home delivery (OR 16.16 CI 95% 3.74-69.75) and maternal fever (OR 10.01 CI95% 3.78-26.52). Significant Fetal risk factors were resuscitation of child (OR 23 CI 95% 31.27-1720.74), pre-term babies(OR 0.34 CI 95% 0.19-0.58), fetal distress (OR 0.01 CI 95% 0.00-0.11) and baby weight (OR 0.13 CI 95% 0.05-0.32).
Measures should be taken to prevent neonatal mortality with great emphasis on skilled attendance at birth and appropriate care of preterm and low birth weight neonates.
PMCID: PMC4300075  PMID: 25526846
Asphyxia; Fetal distress; Neonate
9.  Mycoplasma pneumoniae as a causative agent of community-acquired pneumonia in children: clinical features and laboratory diagnosis 
Mycoplasma pneumoniae is a common cause of community-acquired pneumonia (CAP) in children. The aim of this study was to assess the prevalence of Mycoplasma pneumoniae infection in children with CAP and find clinical, radiological and laboratory features helpful to diagnose Mycoplasma pneumoniae pneumonia. Furthermore, we evaluated the value of serology, real-time PCR (RT-PCR) and culture for the accurate diagnosis of Mycoplasma pneumoniae pneumonia.
The study included 166 children aged between 1 and 15 years with radiologically confirmed pneumonia. Throat swab specimens were cultured and assessed by RT-PCR for the presence of Mycoplasma pneumoniae. Mycoplasma pneumoniae-specific IgM and IgG antibodies were determined using ELISA in paired sera.
Mycoplasma pneumoniae pneumonia was diagnosed in 14.5% CAP cases. Cough (p=0.029), headache (p=0.001) and wheezing (p=0.036) were more frequent in children with Mycoplasma pneumoniae pneumonia compared to children with pneumonia caused by other pathogens. Logistic regression analysis showed that headache (odds ratio [OR] =36.077, p=0.001) and wheezing (OR=5.681, p=0.003) were significantly associated with MP pneumonia. Neither radiological findings, nor common laboratory parameters distinguished Mycoplasma pneumoniae infection in children with CAP. Using IgG serology in paired sera as the gold standard, we found that sensitivity of IgM serology, RT-PCR and culture was equal (81.82%), while specificity values were 100%, 98.6% and 100% respectively. We observed that combination of IgM detection in acute-phase serum and RT-PCR was positive for 91.7% of cases with Mycoplasma pneumoniae infection.
There are no characteristic radiological findings, or routine laboratory tests that would distinguish CAP caused by Mycoplasma pneumoniae from other CAP. It was found that clinical features such as headache and wheezing are indicative for Mycoplasma pneumoniae infection. Furthermore, it was found that during the acute phase of disease, detection of IgM antibodies in combination with RT-PCR allows for precise and reliable diagnosis of Mycoplasma pneumoniae infections in children.
PMCID: PMC4279889  PMID: 25518734
Children; Community-acquired pneumonia; Diagnosis; Mycoplasma pneumoniae; Polymerase chain reaction
10.  Multiple sulfatase deficiency with neonatal manifestation 
Multiple Sulfatase Deficiency (MSD; OMIM 272200) is a rare autosomal recessive inborn error of metabolism caused by mutations in the sulfatase modifying factor 1 gene, encoding the formylglycine-generating enzyme (FGE), and resulting in tissue accumulation of sulfatides, sulphated glycosaminoglycans, sphingolipids and steroid sulfates. Less than 50 cases have been published so far. We report a new case of MSD presenting in the newborn period with hypotonia, apnoea, cyanosis and rolling eyes, hepato-splenomegaly and deafness. This patient was compound heterozygous for two so far undescribed SUMF1 mutations (c.191C > A; p.S64X and c.818A > G; p.D273G).
PMCID: PMC4299397  PMID: 25516103
Multiple sulfatase deficiency; MSD; SUMF1 gene
11.  Association between obesity and high blood pressure among Lithuanian adolescents: a cross-sectional study 
Most epidemiological studies have shown that the prevalence of high blood pressure (BP) has significantly increased among children and adolescents in various countries of the world.
The aim of this study was to examine the associations between overweight, obesity, abdominal obesity and prehypertension and hypertension among Lithuanian adolescents aged 12–15 years.
The subjects with increased BP (≥90th percentile) were screened on two separate occasions. Data on the body mass index (BMI), waist circumference (WC), and BP were analysed in 7,457 adolescents aged 12–15 years. Adjusted odds ratios (aORs) with 95% confidence intervals (CI) for the associations were estimated using multivariate logistic regression models.
After two screenings, the study participants were categorised as prehypertensive (12.8%), hypertensive (22.2%), and normotensive (65%). The overall prevalence of overweight, obesity, and abdominal obesity (if WC was in the ≥75th percentile) were 12.1%, 2.4%, and 9%, respectively. After adjusting for age and sex, significant associations were found between overweight and obesity and high BP, namely, prehypertension (overweight: aOR = 2.62; 95% CI 2.13–3.23; obesity: aOR = 4.81; 95% CI 3.08–7.52) and hypertension (overweight: aOR = 3.56; 95% CI 3.02–4.19; obesity: aOR = 6.64; 95% CI 4.65–9.49). Prehypertension was found to be significantly associated with WC in the 75th– < 90th percentiles (aOR = 3.16; 95% CI 2.43–4.10) and WC in the ≥90th percentile (aOR = 4.08; 95% CI 2.35–7.10). For hypertension, significant associations were detected with WC in the 75th– < 90th percentiles (aOR = 3.92; 95% CI 3.18–4.82) and WC in the ≥90th percentile (aOR = 7.41; 95% CI 4.97–11.05).
Overweight, obesity, and abdominal obesity were associated with prehypertension and hypertension.
PMCID: PMC4265335  PMID: 25492217
Blood pressure; Prehypertension; Hypertension; Overweight; Obesity; Abdominal obesity; Adolescents
12.  Effects of maternal epidural analgesia on the neonate - a prospective cohort study 
Epidural analgesia is one of the most popular modes of analgesia for child birth. There are controversies regarding adverse effects and safety of epidural analgesia. This study was conducted to study the immediate effects of the maternal epidural analgesia on the neonate during early neonatal phase.
A prospective cohort study of 100 neonates born to mothers administered epidural analgesia were compared with 100 neonates born to mothers not administered epidural analgesia in terms of passage of urine, initiation of breast feeding, birth asphyxia and incidence of instrumentation.
There was significant difference among the two groups in the passage of urine (P value 0.002) and incidence of instrumentation (P value 0.010) but there was no significant difference in regards to initiation of breast feeding and birth asphyxia.
Epidural analgesia does not have any effect on the newborns in regards to breast feeding and birth asphyxia but did have effects like delayed passage of urine and increased incidence of instrumentation.
PMCID: PMC4297456  PMID: 25492043
Birth asphyxia; Breast feeding; Epidural analgesia; Neonate; Newborns
13.  Food allergies in school: design and evaluation of a teacher-oriented training action 
Food allergies are perceived as a significant problem in school environments; as a result, a teacher’s ability to recognise and deal with allergic reactions is of fundamental importance to protect children’s health. This paper includes the results of a study conducted for the purposes of designing, implementing and monitoring a specific set of teacher-oriented communication actions.
The study involved designing, implementing and assessing five workshops. These workshops were designed on the basis of the analysis of perceptions and information needs investigated by three focus groups (25 teachers). The level of the teachers’ knowledge and appreciation of the workshops was evaluated by using two structured questionnaires (n = 158).
The teachers feel that they are insufficiently informed about food allergies; this knowledge gap is confirmed by an analysis of their knowledge before participating in the workshops. According to the teachers, the information which would be most useful to them has to do with the practical management of allergies in school. They feel that there is a lack of a professional contact person for precise and reliable information on health issues. The workshops seem to be appreciated as an information method. In addition, there appears to be a need to involve all children in awareness raising activities and education projects on this subject.
There is an urgent need for training actions on food allergies in Italian schools, in particular the communication of practical information regarding the management of allergies and emergencies. More communication between the medical and school staff is, in particular, advisable.
PMCID: PMC4265358  PMID: 25472552
Food allergies; Teacher-oriented training; Focus groups; Communication actions
14.  From hypertransaminasemia to mucopolysaccharidosis IIIA 
Mucopolysaccharidosis type III (MPS III; Sanfilippo syndrome) is a metabolic disorder characterized by the deficiency of a lysosomal enzyme catalyzing the catabolic pathway of heparan sulphate. MPS III presents with progressive mental deterioration, speech delay and behavioural problems with subtle somatic features, which can often lead to misdiagnosis with idiopathic developmental/speech delay, attention deficit/hyperactivity disorder or autism. We report a case of a 5-year-old boy with developmental delay and behaviour problems admitted to the Department of Paediatrics due to chronic hypertransaminasemia. The patient developed normally until the age of 2 years when he was referred to a paediatric neurologist for suspected motor and speech delay. Liver function tests were unexpectedly found elevated at the age of 3.5 years. Physical examination revealed obesity, mildly coarse facial features and stocky hands. He showed mental retardation and mild motor delay. The clinical picture strongly suggested mucopolysaccharidosis. The diagnosis of MPS IIIA was confirmed by decreased activity of heparan N-sulfatase in leucocytes.
We strongly recommend screening for MPS III in children with severe behavioural abnormalities with hyperactivity, psychomotor or speech deterioration and failure to achieve early developmental milestones particularly with facial dysmorphism.
PMCID: PMC4260237  PMID: 25439061
Mucopolysaccharidosis type IIIA; Sanfilippo syndrome; Hypertransaminasemia
15.  Epidural analgesia, neonatal care and breastfeeding 
The objective of our study is to evaluate the correlation between epidural analgesia during labor, start of breastfeeding and type of maternal-neonatal care.
Two different assistance models were considered: Partial and Full Rooming-in.
In this cohort study, 2480 healthy infants were enrolled, 1519 in the Partial Rooming-in group and 1321 in the Full Rooming-in group; 1223 were born to women subjected to epidural analgesia in labor.
In case of Partial Rooming-in the rate of exclusive or prevailing breastfeeding is significant more frequent in newborns born to mothers who didn't receive analgesia. Instead, in case of Full Rooming-in the rate of exclusive or prevailing breastfeeding is almost the same and there's no correlation between the use or not of epidural analgesia.
The good start of lactation and the success of breastfeeding seems to be guaranteed by the type of care offered to the couple mother-infant, that reverses any possible adverse effects of the use of epidural analgesia in labor.
PMCID: PMC4335561  PMID: 25432659
16.  Congenital tuberculosis detected by T-SPOT.TB assay in a male infant after in vitro fertilization and followed up with radiography 
Congenital tuberculosis (TB) is a rare disease with a high mortality rate, and is difficult to diagnose. Here we present a case of congenital TB detected by the T-SPOT.TB assay in a male infant after in vitro fertilization. He ultimately survived after anti-TB therapy despite a delayed diagnosis, and underwent radiological follow-up. The delay in diagnosis of congenital TB resulted in a severe lung lesion, as evidenced by prolonged oxygen dependence, predisposing to recurrent pneumonia. Radiological follow-up revealed uniform rim calcification of multiple enlarged lymph nodes in the mediastinum, and long-term consolidation in the bilateral lung, with slow radiographic regression of the lung lesion. To the best of our knowledge, this is the first report on using the T-SPOT.TB assay in the detection of congenital TB, and no case of congenital TB with such clinical features and image findings has been described in previous reports.
PMCID: PMC4253620  PMID: 25427858
17.  Serum prolidase activity and oxidant–antioxidant status in children with chronic hepatitis B virus infection 
Chronic hepatitis B (CHB) is a global health problem that can result in serious complications associated with collagen degradation. Prolidase is a specific imidodipeptidase that plays an important role in the breakdown of collagen. The aim of this study was to investigate prolidase activity and oxidant–antioxidant status in children with CHB.
This prospective case control study includes 38 patients with CHB, 31 patients with inactive hepatitis B (IHB), and 29 healthy matched control subjects. Serum prolidase enzyme activity (SPEA), total antioxidant capacity (TAC), total oxidative activity (TOA), and malondialdehyde (MDA) level were measured and oxidative stress index (OSI) was calculated for each group.
Patients with CHB had significantly higher SPEA levels (207.82 ± 186.80 IU/L) than did the controls (58.6 ± 38.1 IU/L) and IHB patients (67.1 ± 39.9) (p < 0.001). CHB patients also had significantly higher TOA (45.0 ± 19.9 vs. 29.4 ± 11.7 (μmolH2O2 Eq./L), p = 0.005), OSI (33.1 ± 21.4 vs. 17.5 ± 10.2, p = 0.002) and MDA (13.4 ± 4.0 vs. 7.8 ± 2.6 μm/L, p < 0.001) values compared with the controls. TOA (32.0 ± 10.0) and OSI (15.4 ± 11.0) values of IHB patients were significantly lower than those of CHB patients (p < 0.05). SPEA had significant correlations with HBV- DNA and ALT values (r =0.514 and r =0.454, p < 0.001).
Our results suggest that prolidase activity can be considered as a reliable marker for CHB and increased oxidative stress appears to be related to chronicity of the disease.
PMCID: PMC4247636  PMID: 25425101
Chronic hepatitis B; Prolidase; Oxidative stress; Total antioxidant capacity
18.  Acute post-infectious cerebellar ataxia due to co-infection of human herpesvirus-6 and adenovirus mimicking myositis 
Acute cerebellar ataxia (ACA) is a relatively common neurological disease in children. Most common types of ACA are acute post-infectious (APCA) and acute disseminated encephalomyelitis (ADEM). Less common but important causes include opsoclonus-myoclonus syndrome (OMS) and acute cerebellitis. Cerebellar neoplasms and acute hydrocephalus are additional causes of paediatric ataxia. APCA is the most common cause of ACA in children, comprising about 30-50% of total cases. This is a report about an immunocompetent 4-yrs-old male affected by APCA, due to co-infection by human herpesvirus-6 (HHV-6) and adenovirus, with symptoms mimicking myositis.
PMCID: PMC4255938  PMID: 25425177
Human herpes virus-6; Adenovirus; Hypotonia; Weakness; Ataxia
19.  Congenital skin aplasia on the lower limb in a premature infant with ELBW – case report 
Aplasia cutis congenita (ACC) is usually located on the hairy scalp, on the vertex of the head, but can also occur in other locations, such as limbs, trunk. Congenital skin aplasia on the lower limb is very rare disorder. The exact etiopathogenesis is not known, but intrauterine conditions play a role in its development. ACC visually resembles an ulceration, with a smooth pink surface, which in most cases heals spontaneously. Depending on the wound size and whether signs of inflammation are present, the lesion may require local treatment. In the described case, surgical treatment was carried out because of the extreme prematurity of the infant. The outcome was satisfactory, causing no adverse impact on the child’s development during the infancy.
PMCID: PMC4251930  PMID: 25420905
Aplasia cutis congenita; Extremely low birth weight neonate
20.  Resveratrol plus carboxymethyl-β-glucan in children with recurrent respiratory infections: a preliminary and real-life experience 
Recurrent respiratory infections (RRI), such as the presence of at least one of the following criteria: i) >6 RI per year; ii) >1 RI per month involving upper airways from September to April; iii) >3 RI involving lower airways, constitute a social problem for both their pharmaco-economic impact and the burden for the family. However, several treatment have been proposed with controversial results.
As resveratrol plus carboxymethyl-β-glucan is presently available as solution for aerosol, the aim of this study was to evaluate the effects of this compound, compared to saline solution, whether it is able to prevent RRI in children.
The study was designed as real-life, randomized. Globally, 82 children (49 males, mean age 8.1 ± 2.6 years) with acute rhinopharyngitis and RRI were enrolled. Resveratrol plus carboxymethyl-β-glucan or saline isotonic solution was randomly (ratio 1:1) administered immediately after an anti-infective and anti-inflammatory 10-day treatment (tiamphenicol associated with acetylcisteine plus beclomethasone dipropionate) for the acute rhinopharyngitis. Investigated treatments lasted 20 days. Days with respiratory symptoms, fever, medication use, medical visits, and school absences were evaluated. Children were visited 30, 60, and 90 days after starting treatments.
The active compound was able to significantly reduce the number of days with nasal obstruction (p < 0.001), rhinorrhea (p < 0.001), sneezing (p < 0.001), cough (p = 0.002), fever (p < 0.001), medication use (p < 0.001), medical visits (p < 0.001), and school absence (p < 0.001).
This preliminary and real-life study could suggest that an aerosolized solution containing resveratrol plus carboxymethyl-β-glucan might exert preventive effects in children with RRI.
PMCID: PMC4245789  PMID: 25416925
Resveratrol; Carboxymethyl-β-glucan; Children; Recurrent respiratory infections; Acute rhinopharyngitis
21.  Prevalence of maternal preconception risk factors: an Italian multicenter survey 
Adequate preconception maternal health care is essential to reduce the risk of unwanted pregnancy outcomes and complications. Still, many women are exposed to a number of unhealthy risk factors both before and early in pregnancy. This study aimed to estimate the prevalence of a number of important preconception risk factors using data from a recent multicenter study in Italy.
The study was based on cross-sectional data from seven maternity clinics located in six different regions in Italy during the period January – June, 2012. Data on maternal preconception risk factors and characteristics were collected from 1,892 women who delivered healthy children and 320 women who were pregnant in the first trimester.
About 97% of the women (n = 2,212) were exposed to one or more preconception risk factors. The overall prevalence of the most essential maternal risk factors was as follows: 41% had a age ≥35 years, 36% mistimed or did not intend their pregnancy, 58% did not request a preconception health visit to their doctor, 76% did not use folic acid supplements before pregnancy, 26% smoked at the last menstrual period, 19% had a body mass index ≥25 kg/m2 before pregnancy, and 10% suffered from pregestational chronic diseases. The prevalence of certain variables varied between the maternity clinics.
Many Italian women are exposed to a number of preconception risk factors that have been associated with adverse pregnancy complications and outcomes. More effective intervention programs to improve preconception health in Italian women are strongly needed.
PMCID: PMC4264313  PMID: 25416843
Italy; Preconception; Pregnancy; Prevalence; Risk factors
22.  Identification of two novel mutations on CLCN7 gene in a patient with malignant ostopetrosis 
Osteopetrosis is a rare genetic disorder characterized by increased bone density due to a defective osteoclast’s bone resorption. Three clinical forms can be identified based on severity, age of onset and inheritance: the dominant benign form (ADO), the intermediate form (IRO) and the recessive severe form (ARO). Several genes have been involved in the pathogenesis of these different types of osteopetrosis. Many experimental evidences point out on a specific role for CLCN7, the gene encoding the chloride channel protein subunit alfa and for TCIRG1, the gene encoding an osteoclast specific subunit of the vacuolar proton pump. Mutations in CLCN7 gene have been associated to the complete spectrum of osteopetrosis ranging from ARO to IRO and even to ADO type II. On the other hand, mutations in TCIRG1 gene account for more than 50% of cases of ARO. It is then evident that the malignant osteopetrosis is characterized by a great molecular and clinical heterogeneity often making the final diagnosis difficult to achieve.
We performed a complete clinical, biochemical and molecular analysis by PCR and direct sequencing, of a novel case of osteopetrosis with inconsistent clinical phenotype.
The patient, who cannot be ascribed to any of the ADO, ARO or IRO groups, carried two novel mutations in compound heterozygosis in the CLCN7 gene. The first was the missense mutation c. 948C > T on exon 10 that produces an Arg to Cys change, while the second was the IVS11 + 5G > A splicing mutation that resides on the donor splice site of intron 11 and distrupts the canonical splice site.
Our dataDemonstrate that the unusual clinical presentation observed in our patient with a mild clinical onset evolving towards a more serious clinical picture, is associated to two novel mutations on CLCN7 gene.Support the already described clinical and molecular heterogeneity of the malignant osteopetrosisSuggest that, performing a molecular diagnosis of osteopetrosis with inconsistent clinical presentation these two novel mutations have to be first considered.
PMCID: PMC4253627  PMID: 25410126
Osteopetrosis; Clinical inconsistency; ATPase; Vacuolar proton pump; Splicing mutations
23.  Pediatric migraine and episodic syndromes that may be associated with migraine 
Migraine is a common disorder and a frequent cause of medical consultation in children. Many childhood episodic syndromes have been described as common precursors of migraine.
To review current knowledge on migraine and childhood episodic syndromes, and to discuss future directions for research and clinical practice.
For most children it is difficult to describe a headache and fully verbalize symptoms such as photophobia and phonophobia that must be inferred from behaviour. Classical migraine features are rare before the age of 6 years, but some migraine-related syndromes have been described. Benign paroxysmal torticollis of infancy, benign paroxysmal vertigo of childhood, cyclic vomiting syndrome and abdominal migraine are currently classified as childhood episodic syndromes, and therefore common precursors of migraine. A strong association between infantile colic and migraine has recently been reported. There are similarities between children with episodic syndromes and children with migraine, regarding social and demographic factors, precipitating and relieving factors, and accompanying gastrointestinal, neurologic, and vasomotor features. The real pathophysiological mechanisms of migraine are not fully understood. Current data obtained through molecular and functional studies provide a complex model in which vascular and neurologic events cooperate in the pathogenesis of migraine attacks. Genetic factors causing disturbances in neuronal ion channels, make a migraineur more sensitive to multiple trigger factors that activate the nociception cascade. The expanding knowledge on migraine genetics and pathophysiology may be applicable to childhood episodic syndromes. Migraine preventive strategies are particularly important in children, and could be beneficial in childhood episodic syndromes. Nonspecific analgesics like ibuprofen and acetaminophen are widely used in pediatrics to control pain and have been found to be effective also in the treatment of acute migraine attacks. Triptans are the specific fist-line drugs for acute migraine treatment.
Conclusions and relevance
Migraine phenotype differs somewhat in the developing brain, and childhood episodic syndromes may arise before typical migraine headache. Diagnosing pediatric migraine may be difficult because of children’s language and cognitive abilities. The risk of underestimating migraine in pediatric age is high. An adequate diagnosis is important to maintain a good quality of life and to avoid inappropriate therapy.
PMCID: PMC4239406  PMID: 25407042
Infantile colic; Migraine; Cyclic vomiting; Recurrent abdominal pain; Functional abdominal pain; Torticollis
24.  Chemerin as a novel non-invasive serum marker of intrahepatic lipid content in obese children 
Ectopic hepatic lipid accumulation is closely related to the development of insulin resistance, which is regarded as one of the most significant risk factors of non-alcoholic fatty liver disease (NAFLD). The current study has shown that fat tissue constitutes an important endocrine organ with its own production and metabolism of many biologically active substances, among which adipokines play an important role. Classic adipokines (e.g. leptin, adiponectin, resistin) are fat-derived hormones which serum level is altered in patients with NAFLD. The role of novel adipokines in the pathomechanism of this disease is not clear. Therefore, the aim of our study was to evaluate the serum concentrations of chemerin, omentin and vaspin in obese children with NAFLD.
Forty-five obese children, aged 7–17 years old, were admitted to our Department with suspected liver disease (hepatomegaly, and/or ultrasonographic liver brightness, and/or increased ALT activity). Viral hepatitides, as well as autoimmune and metabolic liver diseases were excluded. Fasting serum levels of chemerin, omentin and vaspin were determined. The grade of liver steatosis in ultrasound was graded according to Saverymuttu. 1HMR spectroscopy was performed with a 1.5 T scanner and with PRESS sequencing.
Fatty liver was confirmed in 39 children by ultrasound and in 33 patients by 1HMRS (19 of them also had increased ALT activity /NAFLD/). Chemerin and vaspin levels were significantly higher in children with NAFLD compared to the control group (n = 30). The concentration of chemerin was significantly higher in children with advanced liver steatosis compared to non-hepatopathic patients (p = 0,02). Significant positive correlations were found between the total liver lipids in 1HMRS and chemerin (r = 0,33; p = 0,02) and vaspin (r = 0,4; p = 0,006). The ability of serum chemerin (cut-off = 190 ng/ml, Se = 75%, Sp = 58%) to differentiate children with fatty liver in 1HMRS from those without steatosis was significant (AUC = 0,7, p = 0,04). Omentin and vaspin did not allow a useful prediction to be made.
Chemerin seems to be the most suitable non-invasive biomarker in predicting both intrahepatic lipid content in obese children and advanced liver steatosis in children with NAFLD.
PMCID: PMC4237733  PMID: 25399407
Adipokines; Chemerin; Omentin; Vaspin; Intrahepatic lipid content; NAFLD; Children
25.  Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations 
Severe Congenital Neutropenia type 4 (SCN4, OMIM 612541) is a rare autosomal recessive disease due to mutations in the G6PC3 gene. The phenotype comprises neutropenia of variable severity and other anomalies including congenital heart defects, prominent superficial veins, uro-genital anomalies, facial dysmorphism, growth and developmental delay and intermittent thrombocytopenia. In some patients, SCN represents the only manifestation of the disease. Variable findings have been reported at bone marrow examination ranging from a maturation arrest at the myelocyte/promyelocyte stage (either in a hypocellular or hypercellular context) to myelokathexis. Here we report two patients harbouring two novel mutations in the G6PC3 gene, including the first Italian patient even described. Both the patients share profound neutropenia with severe infections early in life; in one case non-hematopoietic stigmata of the syndrome, including evident facial dysmorphism and vascular anomalies, appeared gradually over time, prominently in the second decade. Therefore, G6PC3 defects should be considered in any case of congenital, unexplained neutropenia regardless of the clinical phenotype. Both patients are on G-CSF treatment with no evidence of malignant evolution. Even if G6PC3 deficiency seems not to have a propensity towards malignancy, a careful evaluation is warranted.
PMCID: PMC4234865  PMID: 25391451
Neutropenia; Severe congenital neutropenia type 4; SCN4; G6PC3; G-CSF

Results 1-25 (578)