Development of a High-Efficiency Device for Thermal Neutron Detection Using a Sandwich of Two High-Purity 10B Enriched Layers.

The shortage of 3He, a crucial element widely used as a neutron converter in neutron detection applications, has sparked significant research efforts aimed at finding alternative materials, developing appropriate deposition methods, and exploring new detector architectures. This issue has required the exploration of novel approaches to address the challenges faced in neutron detection. Among the available conversion materials, 10B has emerged as one of the most promising choices due to its high neutron-capture cross-section and relatively high Q value. In our previous papers, we delved into the possibility of depositing neutron conversion layers based on 10B using Pulsed Laser Deposition (PLD). We investigated and evaluated the performance of these layers based on various factors, including deposition conditions, substrate properties, and film thickness. Moreover, we successfully developed and tested a device that employed a single conversion layer coupled with a silicon particle detector. In this current study, we present the development of a new device that showcases improved performance in terms of efficiency, sensitivity, and discrimination against γ background signals. The background signals can arise from the environment or be associated with the neutron field. To achieve these advancements, we considered a new detection geometry that incorporates the simultaneous use of two 10B conversion layers, each with a thickness of 1.5 µm, along with two solid-state silicon detectors. The primary objective of this design was to enhance the overall detection efficiency when compared to the single-layer geometry. By employing this novel setup, our results demonstrate a significant enhancement in the device's performance when exposed to a neutron flux from an Am-Be neutron source, emitting a flux of approximately 2.2 × 106 neutrons per second. Furthermore, we established a noteworthy agreement between the experimental data obtained and the simulation results.

Off-label use of combined antiretroviral therapy, analysis of data collected by the Italian Register for HIV-1 infection in paediatrics in a large cohort of children.

BACKGROUND: Early start of highly active antiretroviral therapy (HAART) in perinatally HIV-1 infected children is the optimal strategy to prevent immunological and clinical deterioration. To date, according to EMA, only 35% of antiretroviral drugs are licenced in children < 2 years of age and 60% in those aged 2-12 years, due to the lack of adequate paediatric clinical studies on pharmacokinetics, pharmacodynamics and drug safety in children. METHODS: An observational retrospective study investigating the rate and the outcomes of off-label prescription of HAART was conducted on 225 perinatally HIV-1 infected children enrolled in the Italian Register for HIV Infection in Children and followed-up from 2001 to 2018. RESULTS: 22.2% (50/225) of included children were receiving an off-label HAART regimen at last check. Only 26% (13/50) of off-label children had an undetectable viral load (VL) before the commencing of the regimen and the 52.0% (26/50) had a CD4 + T lymphocyte percentage > 25%. At last check, during the off label regimen, the 80% (40/50) of patients had an undetectable VL, and 90% (45/50) of them displayed CD4 + T lymphocyte percentage > 25%. The most widely used off-label drugs were: dolutegravir/abacavir/lamivudine (16%; 8/50), emtricitbine/tenofovir disoproxil (22%; 11/50), lopinavir/ritonavir (20%; 10/50) and elvitegravir/cobicistat/emtricitabine/ tenofovir alafenamide (10%; 10/50). At logistic regression analysis, detectable VL before starting the current HAART regimen was a risk factor for receiving an off-label therapy (OR: 2.41; 95% CI 1.13-5.19; p = 0.024). Moreover, children < 2 years of age were at increased risk for receiving off-label HAART with respect to older children (OR: 3.24; 95% CI 1063-7.3; p = 0.001). Even if our safety data regarding off-label regimens where poor, no adverse event was reported. CONCLUSION: The prescription of an off-label HAART regimen in perinatally HIV-1 infected children was common, in particular in children with detectable VL despite previous HAART and in younger children, especially those receiving their first regimen. Our data suggest similar proportions of virological and immunological successes at last check among children receiving off-label or on-label HAART. Larger studies are needed to better clarify efficacy and safety of off-label HAART regimens in children, in order to allow the enlargement of on-label prescription in children.

Role of Mycobacterium avium lysate INF-γ, IL-17, and IL-2 ELISPOT assays in diagnosing nontuberculous mycobacteria lymphadenitis in children.

Nontuberculous mycobacteria are the most frequent cause of chronic cervical lymphadenitis in childhood. The aim of the study was to evaluate the performance of IL-2, IL-17, and INF-γ in-house enzyme-linked immunospot assays using a Mycobacterium avium lysate, in order to identify a noninvasive diagnostic method of nontuberculous mycobacteria infection. Children with subacute and chronic lymphadenopathies or with a previous diagnosis of nontuberculous mycobacteria lymphadenitis were prospectively enrolled in the study. Sixty children with lymphadenitis were included in our study: 16 with confirmed infection (group 1), 30 probable infected (group 2) and 14 uninfected (group 3). Significantly higher median cytokine values were found in group 1 vs group 2, in group 1 vs group 3, and in group 2 vs group 3 considering IL-2-based enzyme-linked immunospot assay (p = 0.015, p < 0.001, p = 0.004, respectively). INF-γ-based enzyme-linked immunospot assay results were significantly higher in group 2 vs group 3 (p = 0.010). Differences between infected and uninfected children were not significant considering IL-17 assays (p = 0.431). Mycobacterium avium lysate IL-2 and INF-γ-based enzyme-linked immunospot assays seem to be promising noninvasive diagnostic techniques for discriminating children with nontuberculous mycobacteria lymphadenitis and noninfected subjects.

Should Pediatricians Be Aware of Cystic Echinococcosis? A Literature Review.

Among parasitic hepatic cystic lesions, the most common disease is represented by cystic echinococcosis (CE), especially in high endemic countries. European epidemiology of CE in children is difficult to assess because of under-reporting but is increasing, because of high immigration flows from endemic countries and an increased awareness. Hydatidosis can be localized in every part of the body. The liver and lungs are the most common localizations in both children and adults. Multiorgan involvement is rarely reported in children. Different tests are available. Usually the sensitivity of serological screening tests is variable, ranging between 60% and 90%. The immunoblot assay is used as a confirmatory test because of its higher sensitivity and specificity. Radiological tests are the criterion standard for diagnosis of CE, with an ultrasound accuracy of approximately 90%. In case of inactive and uncomplicated cysts the watch-and-wait approach is recommended. Albendazole, currently used for 3 to 6 months consecutively represents the most commonly used drug in children even if there is limited experience in treating children younger than 6 years of age. Percutaneous treatment with the puncture, aspiration, injection, and reaspiration technique is a minimally invasive procedure. Surgery is indicated based on cyst characteristics in case of big cysts with multiple daughter cysts, single superficial cysts at risk of spontaneous or traumatic rupture, cysts related with the biliary tract in which the percutaneous treatment is contraindicated, and cysts compressing related structures.

QuantiFERON-TB Gold In-Tube test performance in a large pediatric population investigated for suspected tuberculosis infection.

BACKGROUND: The performance of QuantiFERON-TB Gold In-Tube (QTF-IT) in children is under debate, especially in those under 5 years of age. Moreover, interpretation of discordant QFT-IT/Tuberculin-Skin-Test (TST) results remains controversial. This study aims at studying the sensitivity of QFT-IT and TST in children with active TB cases and exploring risk factors associated with discordant TST+/QFT-IT-. METHODS: Children consecutively referred to one single pediatric center between 2010 and 2017 for suspected tuberculosis infection (TB) were enrolled. All children underwent clinical evaluation, TST and QFT-IT. Sensitivity of QFT-IT and TST in active TB cases and risk factors associated with discordant TST+/QFT-IT- results were assessed. Uni- and multi-variate logistic regression analyses were performed. RESULTS: Overall, 4631 children (median age 5.67 years) were enrolled, and 205 active TB cases were diagnosed (83 microbiologically confirmed). A high QFT-IT sensitivity was observed in children between 2 and 4 years of age (95.0%; 95%CI: 85.4-100) and in those between 5 and 18 years (89.1%; 95%CI:79.2-99.2) with microbiologically confirmed active TB. However, sensitivity was suboptimal in children younger than 2 years (84.6%; 95%CI: 65.0-100). Independent risk factors associated with discordant TST+/QFT-IT- results in children with latent tuberculosis infection (LTBI) were previous BCG vaccination (aOR:2.18; 95%CI:1.33-3.58; p = 0.002), age <2 years vs. 5-18 years (aOR:7.54; 95%CI:2.52-22.59; p < 0.0001), age 2-4 years vs. 5-18 years (aOR:4.63; 95%CI:2.66-8.06; p < 0.0001), and investigation for screening rather than for contact with a suspected or confirmed case (aOR:3.58; 95%CI:2.30-5.59; p < 0.0001). CONCLUSION: Our data suggest that QFT-IT might be used as unique assay in children over 2 years of age investigated for recent immigration/adoption screening and in cases of recent low risk TB contact. This approach could considerably reduce the number of children undergoing pharmacological treatment. Conversely, both tests are recommended in cases of strong clinical suspicion or high risk TB contact in children less than 5 years of age, in order to avoid misdiagnosis.

Hospitalization rates and outcome of invasive bacterial vaccine-preventable diseases in Tuscany: a historical cohort study of the 2000-2016 period.

BACKGROUND: Invasive bacterial diseases (IBD) are a serious cause of hospitalization, sequelae and mortality. Albeit a low incidence, an increase in cases due to H. influenzae was registered in the past 4 years and, in the Tuscany region, an excess of cases due to N. meningitidis since 2015 is alarming. The purpose of this study is to deepen the knowledge of IBD epidemiology in Tuscany with particular attention to temporal trends. METHODS: Tuscan residents hospitalized for IBD from January 1st 2000 to March 18th 2016 were selected from the regional hospital discharge database based on ICD-9-CM codes. Age-specific and standardized hospitalization rates were calculated together with case-fatality rates (CFRs). A time-trend analysis was performed; whereas, prognostic factors of death were investigated through univariable and multivariable analyses. RESULTS: The average standardized hospitalization rates for invasive meningococcal diseases (IMD), invasive pneumococcal diseases and invasive diseases due to H. influenzae from 2000 to 2016 were 0.6, 1.8, and 0.2 per 100,000, respectively. The average CFRs were 10.5%, 14.5% and 11.5% respectively with higher values in the elderly. Older age was significantly associated with higher risk of death from all IBD. A significant reduction in hospitalization rates for IMD was observed after meningococcal C conjugate vaccine introduction. The Annual Percentage Change (APC) was -13.5 (95% confidence interval (CI) -22.3; -3.5) in 2005-2013 but has risen since that period. Furthermore, a significant increasing trend of invasive diseases due to H. influenzae was observed from 2005 onwards in children 1-4 years old (APC 13.3; 95% CI 0; 28.3). CONCLUSIONS: This study confirms changes in the epidemiology of invasive diseases due to H. influenzae and IMD. Furthermore, attention is called to the prevention of IBD in the elderly because of the age group's significantly higher rate of hospitalizations and deaths for all types of IBD.

Knowledge, attitudes and misconceptions of Italian healthcare professionals regarding fever management in children.

BACKGROUND: Fever phobia is still a major issue in paediatrics. We report knowledge of a sample of Italian paediatricians performed six years after the release of the Italian guidelines for the management of fever in children (IFG). METHODS: A questionnaire, developed following the IFG recommendations and previously administered to 300 paediatricians in 2012, was proposed to all the paediatricians attending the 2015 National Congress of Practice Paediatrics, held in Florence, Italy. Changes in answers over time were analyzed. RESULTS: 70.2% (562/800) paediatricians returned the questionnaire. The recommended site and device for body temperature measurement in children > 1 year was correctly chosen by 89.3% of participants (vs. 80.7% of 2012 participants; P < 0.001), but with children aged less than 1 year the correct answer was selected only by the 50.3% (vs. 39.3% of 2012 participants: P < 0.001). Use of physical methods was still incorrectly recommended by 51.6% of paediatricians (vs. 63.6% in 2012; P < 0.001). Use of antipyretics according to discomfort was adopted only by 38.2% of participants, while 12.2% of them recommended alternate use of antipyretics. These proportions were substantially stable since 2012 (45 and 11% respectively), rectal administration of antipyretics only in case of vomiting was correctly recommended by 86.8% of paediatricians vs. 74.7% in 2012 (P < 0.001). CONCLUSION: Improvements in some pediatricians' misconceptions were observed over time. However, some incorrect habits persist. Further studies are needed to better understand the "weak points" of the communication between Scientific Societies and paediatricians in order to impact everyday clinical practice.

Italian multicentre study found infectious and vaccine-preventable diseases in children adopted from Africa and recommends prompt medical screening.

AIM: This study evaluated the prevalence of infectious diseases and immunisation status of children adopted from Africa. METHODS: We studied 762 African children referred to 11 Italian paediatric centres in 2009-2015. Clinical and laboratory data were retrospectively collected and analysed. RESULTS: The median age of the children (60.3% males) was 3 years and 6 months, 52.6% came from Ethiopia and 50.1% had at least one infectious disease. Parasitic infections accounted for the majority of the infectious diseases (409 of 715), and the most common were Giardia lamblia (n = 239), Toxocara canis (n = 65) and skin infections (n = 205), notably Tinea capitis/corporis (n = 134) and Molluscum contagiosum (n = 56) Active tuberculosis (TB) was diagnosed in nine children (1.2%). Latent TB infections were diagnosed in 52 (6.8%) children, and only 23 had concordant positive tuberculin skin tests and Quantiferon Gold In-Tube results. Discordant results were associated with Bacille de Calmette-Guérin vaccinations (odd ratio 6.30 and 95% confidence interval of 1.01-39.20, p = 0.011). Nonprotective antitetanus or antihepatitis B antibody titres were documented in 266 (34.9%) and 396 (51.9%) of the 762 children. CONCLUSION: The prevalence of infectious conditions and not-protective titres for vaccine-preventable diseases observed in our population underlines the need for prompt and complete medical screening of children adopted from Africa.

Glioblastoma Chemoresistance: The Double Play by Microenvironment and Blood-Brain Barrier.

For glioblastoma, the tumor microenvironment (TME) is pivotal to support tumor progression and therapeutic resistance. TME consists of several types of stromal, endothelial and immune cells, which are recruited by cancer stem cells (CSCs) to influence CSC phenotype and behavior. TME also promotes the establishment of specific conditions such as hypoxia and acidosis, which play a critical role in glioblastoma chemoresistance, interfering with angiogenesis, apoptosis, DNA repair, oxidative stress, immune escape, expression and activity of multi-drug resistance (MDR)-related genes. Finally, the blood brain barrier (BBB), which insulates the brain microenvironment from the blood, is strongly linked to the drug-resistant phenotype of glioblastoma, being a major physical and physiological hurdle for the delivery of chemotherapy agents into the brain. Here, we review the features of the glioblastoma microenvironment, focusing on their involvement in the phenomenon of chemoresistance; we also summarize recent advances in generating systems to modulate or bypass the BBB for drug delivery into the brain. Genetic aspects associated with glioblastoma chemoresistance and current immune-based strategies, such as checkpoint inhibitor therapy, are described too.

Malaria in Children Adopted from the Democratic Republic of the Congo.

Data are lacking regarding asymptomatic and symptomatic malaria prevalence in internationally adopted children. Among 20 children from Democratic Republic of the Congo evaluated in Florence, Italy, in April 2016, malaria prevalence was 80%; 50% of infected children had symptomatic malaria. Adopted children from areas of high malaria endemicity should be screened for malaria.

2016 Update of the Italian Pediatric Society Guidelines for Management of Fever in Children.

OBJECTIVE: To review new scientific evidence to update the Italian guidelines for managing fever in children as drafted by the panel of the Italian Pediatric Society. STUDY DESIGN: Relevant publications in English and Italian were identified through search of MEDLINE and the Cochrane Database of Systematic Reviews from May 2012 to November 2015. RESULTS: Previous recommendations are substantially reaffirmed. Antipyretics should be administered with the purpose to control the child's discomfort. Antipyretics should be administered orally; rectal administration is discouraged except in the setting of vomiting. Combined use of paracetamol and ibuprofen is discouraged, considering risk and benefit. Antipyretics are not recommended preemptively to reduce the incidence of fever and local reactions in children undergoing vaccination, or in attempt to prevent febrile convulsions in children. Ibuprofen and paracetamol are not contraindicated in children who are febrile with asthma, with the exception of known cases of paracetamol- or nonsteroidal anti-inflammatory drug-induced asthma. CONCLUSIONS: Recent medical literature leads to reaffirmation of previous recommendations for use of antipyretics in children who are febrile.

Cross-sectional study shows that impaired bone mineral status and metabolism are found in nonmosaic triple X syndrome.

AIM: The effect of a supernumerary X chromosome on bones has not been reported, and this study evaluated bone mineral status and metabolism in nonmosaic triple X syndrome. METHODS: This cross-sectional study comprised 19 girls, with a median age of 10.9 years, with nonmosaic triple X syndrome and a control group matched for age and body size. We studied ionised and total calcium, phosphate, parathyroid hormone (PTH), 25-hydroxyvitamin D (25(OH)D), 1,25-dihydroxyvitamin D, osteocalcin, bone alkaline phosphatase levels and urinary deoxypyridinoline concentrations. We also measured the phalangeal amplitude-dependent speed of sound (AD-SoS) and the bone transmission time (BTT) Z-scores. RESULTS: Patients with nonmosaic triple X syndrome showed significantly reduced AD-SoS (p < 0.005) and BTT Z-scores (p < 0.0001) compared to the control group, and these results persisted when we divided the sample into prepubertal and pubertal patients (p < 0.05). These patients also had significantly reduced ionised calcium (p < 0.005) and 25(OH)D levels (p < 0.005) and higher phosphate (p < 0.0001) and PTH (p < 0.0001) levels. CONCLUSION: Subjects with nonmosaic triple X syndrome exhibited a significant impairment in bone mineral status and metabolism similar to other X polisomy, such as Klinefelter's syndrome. This suggests the presence of a primary bone deficit and the need for regular and close monitoring of these subjects.

Central-line associated bloodstream infections in a tertiary care children's University hospital: a prospective study.

BACKGROUND: The central-line associated bloodstream infections (CLABSI) are the most common healthcare-associated infections in childhood. Despite the international data available on healthcare-associated infections in selected groups of patients, there is a lack of large and good quality studies. The present survey is the first prospective study monitoring for 6 months the occurrence of central-line associated bloodstream infections in all departments of an Italian tertiary care children's university hospital. METHODS: The study involved all children aged less than 18 years admitted to Meyer Children's University Hospital, Florence, Italy who had a central line access between the October 15th, 2014 and the April 14th, 2015. CLABSI were defined according to the Center for Disease Control and Prevention criteria. CLABSI incidence rates with 95% confidence limits were calculated and stratified for the study variables. For each factor the relative risk and 95% confidence intervals were evaluated. Statistical analysis was performed using the statistical software SPSS for Windows, version 22.0 (SPSS Inc., Chicago, IL), p < 0.05 was considered statistically significant. RESULTS: CLABSI rate was 3.73/1000 (95% CI: 2.54-5.28) central line-days. A higher CLABSI incidence was seen with female gender (p = 0.045) and underlying medical conditions (excepting prematurity, surgical diseases and malignancy) (p = 0.06). In our study 5 infections, were caused by extended-spectrum ß-lactamase producing organisms and in one case by carbapenem-resistant Klebsiella pneumoniae. CONCLUSIONS: Our study confirms the spreading of multi-resistant pathogens as causes of healthcare associated infections in children. An increased incidence rate of CLABSI in our study was related to underlying medical conditions. Pediatric studies focusing on healthcare infections in this type of patients should be done in order to deepen our understanding on associated risk factors and possible intervention areas.

Dismantling the Taboo against Vaccines in Pregnancy.

Vaccinating pregnant women in order to protect them, the fetus, and the child has become universal in no way at all. Prejudice in health professionals add to fears of women and their families. Both these feelings are not supported by even the smallest scientific data. Harmlessness for the mother and the child has been observed for seasonal, pandemic, or quadrivalent influenza, mono, combined polysaccharide or conjugated meningococcal or pneumococcal, tetanus toxoid, acellular pertussis, human papillomavirus, cholera, hepatitis A, Japanese encephalitis, rabies, anthrax, smallpox, yellow fever, mumps, measles and rubella combined, typhoid fever, inactivated or attenuated polio vaccines, and Bacillus Calmétte Guerin vaccines. Instead, the beneficial effects of influenza vaccine for the mother and the child as well as of pertussis vaccine for the child have been demonstrated. Obstetrician-gynecologists, general practitioners, and midwives must incorporate vaccination into their standard clinical care. Strong communication strategies effective at reducing parental vaccine hesitancy and approval of regulatory agencies for use of vaccines during pregnancy are needed. It must be clear that the lack of pre-licensure studies in pregnant women and, consequently, the lack of a statement about the use of the vaccine in pregnant women does not preclude its use in pregnancy.

Pediatric Tuberculosis in Italian Children: Epidemiological and Clinical Data from the Italian Register of Pediatric Tuberculosis.

Tuberculosis (TB) is one of the leading causes of death worldwide. Over the last decades, TB has also emerged in the pediatric population. Epidemiologic data of childhood TB are still limited and there is an urgent need of more data on very large cohorts. A multicenter study was conducted in 27 pediatric hospitals, pediatric wards, and public health centers in Italy using a standardized form, covering the period of time between 1 January 2010 and 31 December 2012. Children with active TB, latent TB, and those recently exposed to TB or recently adopted/immigrated from a high TB incidence country were enrolled. Overall, 4234 children were included; 554 (13.1%) children had active TB, 594 (14.0%) latent TB and 3086 (72.9%) were uninfected. Among children with active TB, 481 (86.8%) patients had pulmonary TB. The treatment of active TB cases was known for 96.4% (n = 534) of the cases. Overall, 210 (39.3%) out of these 534 children were treated with three and 216 (40.4%) with four first-line drugs. Second-line drugs where used in 87 (16.3%) children with active TB. Drug-resistant strains of Mycobacterium tuberculosis were reported in 39 (7%) children. Improving the surveillance of childhood TB is important for public health care workers and pediatricians. A non-negligible proportion of children had drug-resistant TB and was treated with second-line drugs, most of which are off-label in the pediatric age. Future efforts should concentrate on improving active surveillance, diagnostic tools, and the availability of antitubercular pediatric formulations, also in low-endemic countries.

Hair and Scalp Disorders in a Tuscan Pediatric Dermatological Outpatient Clinic: A Clinical and Epidemiological Evaluation.

OBJECTIVES: The aim of this study was to evaluate the clinical and epidemiological profile of hair and scalp disorders in children referred to the Pediatric Dermatology Outpatient Clinic. MATERIALS AND METHODS: We performed a retrospective study of children with hair loss problems or scalp diseases who turned to the Pediatric Dermatology Service, Anna Meyer Pediatric Hospital, Florence, Italy, from January 1, 2009, to December 31, 2009. Demographics, personal and familial medical history, laboratory tests, clinical examination, final diagnosis and therapeutic interventions were obtained from the manual chart review. RESULTS: Of the 2,640 children who had access to the Pediatric Dermatology Service, 190 (7.19%) had a hair or scalp disorder. Among the 190 children, 60 (31.57%) presented with nonscarring alopecia, 56 (29.47%) had benign neoplasias, hamartomas or vascular malformations of the scalp, 51 (26.84%) had scalp inflammatory diseases, 14 (7.36%) had scarring alopecia, 5 (2.63%) had infections and 2 (1.05%) had infestation of the scalp. A case of constitutional hypertrichosis (0.52%) and also a case (0.52%) of lamellar ichthyosis were diagnosed. CONCLUSIONS: Our results underline that hair and scalp diseases represent an important percentage of admittances to a dermatological pediatric outpatient clinic. The variety and complexity of the diseases observed in this study included diseases commonly found also in adulthood.

First Human Case of Meningitis and Sepsis in a Child Caused by Actinobacillus suis or Actinobacillus equuli.

We report the first human case of meningitis and sepsis caused in a child by Actinobacillus suis or A. equuli, a common opportunistic pathogen of swine or horses, respectively. Identification was performed by matrix-assisted laser desorption ionization-time of flight mass spectrometry and real-time PCR assay. A previous visit to a farm was suspected as the source of infection.

A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review.

BACKGROUND: Deletions on the distal portion of the long arm of chromosome 6 are relatively uncommon, and only a small number occurs in the paternal copy, causing growth abnormalities. As a result, extensive clinical descriptions are lacking. CASE PRESENTATION: We describe a male of Italian descent born at 35 weeks by elective caesarean delivery presenting hypoplastic left colon, bilateral inguinal hernia, dysplastic tricuspid and pulmonary valves, premature ventricular contractions, recurrent otitis media, poor feeding, gastro-oesophageal reflux, bilateral pseudopapilledema, and astigmatism. He also showed particular facial dysmorphisms and postnatal growth failure. Early psychomotor development was mildly delayed. At 3.75 years, he was evaluated for severe short stature (-2.98 SD) and delayed bone age. He showed an insulin-like growth factor 1 concentration (IGF-1) in the low-normal range. Growth hormone stimulation tests showed a low response to clonidine and insulin. Magnetic resonance imaging showed hypophyseal hypoplasia. Genetic evaluation by Single Nucleotide Polymorphism arrays showed a de novo 6q24.2-q25.2 deletion on paternal chromosome 6. CONCLUSION: We confirm that this is a new congenital malformation syndrome associated with a deletion of 6q24.2-q25.2 on paternal chromosome 6. We suggest evaluating the growth hormone axis in children with 6q24.2-q25.2 deletions and growth failure.

An infant with hyperalertness, hyperkinesis, and failure to thrive: a rare diencephalic syndrome due to hypothalamic anaplastic astrocytoma.

BACKGROUND: Diencephalic Syndrome is a rare clinical condition of failure to thrive despite a normal caloric intake, hyperalertness, hyperkinesis, and euphoria usually associated with low-grade hypothalamic astrocytomas. CASE PRESENTATION: We reported an unusual case of diencephalic cachexia due to hypothalamic anaplastic astrocytoma (WHO-grade III). Baseline endocrine function evaluation was performed in this patient before surgery. After histological diagnosis, he enrolled to a chemotherapy program with sequential high-dose chemotherapy followed by hematopoietic stem cell rescue. The last MRI evaluation showed a good response. The patient is still alive with good visual function 21 months after starting chemotherapy. CONCLUSIONS: Diencephalic cachexia can rarely be due to high-grade hypothalamic astrocytoma. We suggest that a nutritional support with chemotherapy given to high doses without radiotherapy could be an effective strategy for treatment of a poor-prognosis disease.

Serratia marcescens outbreak in a neonatal intensive care unit: crucial role of implementing hand hygiene among external consultants.

BACKGROUND: Serratia marcescens represents an important pathogen involved in hospital acquired infections. Outbreaks are frequently reported and are difficult to eradicate. The aim of this study is to describe an outbreak of Serratia marcescens occurred from May to November 2012 in a neonatal intensive care unit, to discuss the control measures adopted, addressing the role of molecular biology in routine investigations during the outbreak. METHODS: After an outbreak of Serratia marcescens involving 14 neonates, all admitted patients were screened for rectal and ocular carriage every two weeks. Extensive environmental sampling procedure and hand sampling of the staff were performed. Antimicrobial susceptibility pattern and molecular analysis of isolates were carried out. Effective hand hygiene measures involving all the external consultants has been implemented. Colonized and infected babies were cohorted. Dedicated staff was established to care for the colonized or infected babies. RESULTS: During the surveillance, 65 newborns were sampled obtaining 297 ocular and rectal swabs in five times. Thirty-four Serratia marcescens isolates were collected: 11 out of 34 strains were isolated from eyes, being the remaining 23 isolated from rectal swabs. Two patients presented symptomatic conjunctivitis. Environmental and hand sampling resulted negative. During the fifth sampling procedure no colonized or infected patients have been identified. Two different clones have been identified. CONCLUSIONS: Ocular and rectal colonization played an important role in spread of infections. Implementation of infection control measures, involving also external specialists, allowed to control a serious Serratia marcescens outbreak in a neonatal intensive care unit.