Zuccarello D.,University of Padua |
Dallapiccola B.,Bambino Gesu Pediatric Hospital |
Novelli A.,Ospedale Casa Sollievo della Sofferenza |
Foresta C.,University of Padua
European Journal of Medical Genetics | Year: 2010
A mosaic ring chromosome 22 (mos 46,XY,r(22)/45,XY,-22) was found in an euploid azoospermic otherwise phenotypically normal individual. Testicular cytological analysis showed hypospermatogenesis with a complete spermatogonial arrest. The majority of subjects with constitutional r(22) are dysmorphic and mentally retarded due to deletion of a sizable segment of the chromosome 22q. Only a few cases of r(22) chromosome are known in which deletion of the very distal telomeric regions is associated with unremarkable phenotype and fertility, both in males and females. The present patient is the first example of male infertility associated with this cytogenetic anomaly. It is likely that infertility arose from a mechanical block of meiosis, resulting from pairing failure of chromosomes 22, similarly to azoospermia occurring in few known males with r(21) chromosomes. © 2010 Elsevier Masson SAS.
Bruni O.,University of Rome La Sapienza |
Verrillo E.,Bambino Gesu Pediatric Hospital |
Novelli L.,University of Rome La Sapienza |
Ferri R.,Oasi Institute for Research on Mental Retardation and Brain Aging IRCCS
Current Opinion in Pulmonary Medicine | Year: 2010
Purpose of Review: Although several studies in the last years have evaluated obesity, obstructive sleep apnea (OSAS), and excessive daytime sleepiness (EDS) in patients with Prader-Willi syndrome (PWS), their pathophysiologies and interactions and the role of treatment with growth hormone are not completely understood. The present review analyzes the contributing role of obesity, OSAS, and sleep structure abnormalities in determining the EDS and the role of specific treatment in improving the clinical outcome. Recent Findings: The studies on sleep structure of PWS patients show abnormalities of rapid eye movement (REM) sleep and a decrease in non-REM sleep instability, corroborating the hypothesis of the presence of a primary disorder of vigilance and the similarities with narcolepsy. These sleep alterations might also be linked to the action of mediators of inflammation (i.e. adiponectin or cytokines) determined by obesity. Obesity and hypothalamic dysfunction could be responsible for the primary abnormalities of ventilation during sleep that, in turn, might contribute to EDS. Although EDS seems to resemble narcolepsy, PWS patients do not present the other typical symptoms of narcolepsy. Summary: The most consistent hypothesis for linking the three different symptoms of PWS is a primary central hypothalamic dysfunction. Further research is needed to evaluate the contribution of the upper airway resistance syndrome in the pathogenesis of EDS, the role of the alterations of sleep microstructure, the relationships between PWS and narcoleptic phenotype, the involvement of orexin/hypocretin, and the effects of drugs acting on REM sleep and/or wakefulness. © 2010 Wolters Kluwer Health | Lippincott Williams & Wilkins.
Marsella P.,Bambino Gesu Pediatric Hospital |
Scorpecci A.,Bambino Gesu Pediatric Hospital |
Vallarino M.V.,Bambino Gesu Pediatric Hospital |
Di Fiore S.,Bambino Gesu Pediatric Hospital |
Pacifico C.,Bambino Gesu Pediatric Hospital
Otolaryngology - Head and Neck Surgery (United States) | Year: 2014
Objective. Since 2011, a transcutaneous bone-anchored auditory implant (Sophono) has been available for patients affected by bilateral, conductive hearing loss that cannot be corrected by surgery. To date, very few cases of device application in the pediatric population have been described. The aim of the present study is to report on complications, functional outcome, and health-related quality of life of the first pediatric cases in Italy. Study Design. Case series with planned data collection. Setting. Tertiary care pediatric center. Subjects and Methods. Of 25 candidates with bilateral, conductive hearing loss screened between January 2012 and July 2013, 6 were included in the study (3 male and 3 female; median age, 9 years; age range, 5-17 years). Data concerning surgery, complications, functional outcome, and health-related quality of life were gathered prospectively. Results. No major intraoperative complications occurred. Postoperative complications included 1 patient developing a skin ulceration below the external magnet and 1 patient reporting pain from using the device for more than 4 hours a day consecutively. Median free-field pure tone average (0.5-3 kHz) with the device was 32.5 dB HL, and median functional gain was 33 dB HL. Median Glasgow Childrens Benefit Inventory score was 142. Conclusion. Sophono implants can be a valuable alternative to percutaneous implants in patients with bilateral, conductive hearing loss. To ensure the success of the treatment, several precautions should be taken, including a careful preoperative assessment of skull bone thickness and a close postoperative follow-up of the skin under the external processor, especially over the first months. © American Academy of OtolaryngologyHead and Neck Surgery Foundation 2014.
Murgia F.,Bambino Gesu Pediatric Hospital
La Clinica terapeutica | Year: 2011
In this study we describe and discuss the way we daily act in remote telematic tracking of CF outpatients, a procedure which has been improved through our daily experience in telehomecare. Currently, there are almost 30 patients involved in our telehomecare project. We describe and discuss intervention parameters and the way we manage a register of performances in spreadsheet format. We also describe the training program for the patients and their and the procedures through which we maintain contacts with patients and Vivisol assistance and the periodical satisfaction surveys. (from 15 of february 2010 to 24 of may 2011). Total transmissions 882, Spirometry 1317, SaO2 291, Compliance (transmissions/patient days) 8,91%, Hospital controls 19, Total contacts 722, Phone calls 494. We analyze the 2010 - 2011 data. We discuss the compliance of patients toward Telehomecare, the efficacy of cell phone in establishing contact with patients and the relevancy of symptoms' rescue in diagnosing the pulmonary relapse episodes. We discuss medico-legal aspects of telemedicine activity, in the light of standards and legislation, including issues related to the processing of privacy and security data. We discuss the professional team needs and requirements, dedicated to the activities of telemedicine and procedures related to clinical risk management. We conclude by underlying how telemedicine represents a promising new tool for patients and health professionals, and that under certain conditions it can improve the assistance, working conditions and also to reduce costs. However, its usage has to be followed by precise studies about its efficacy, and also by paying particular attention to the partly new issues that derive from it.
Ciofetta G.,Bambino Gesu Pediatric Hospital
Quarterly Journal of Nuclear Medicine and Molecular Imaging | Year: 2010
Gastroesophageal reflux represents a physiological phenomenon in the first year of life. The reflux associated with clinical complications is defined as "gastroesophageal reflux disease" (GERD), that may be esophageal or extra-esophageal, as is for respiratory problems. Nuclear medicine investigations have given an important contribution to the diagnostic assessment and therapeutical management of GERD in children, by means of the following procedures: scintigraphy of the gastroduodenal transit and reflux detection, scintigraphic quantification of gastric emptying, scintigraphy of the esophageal transit, radioisotopic salivagram, scintigraphy of lung perfusion, ventilation and of mucociliary clearance. All of these investigations are among die less irradiating nuclear medicine procedures, therefore particularly adapted to paediatrics. The main clinical advantages of this body of information include: improvements in the management of many asthmatic children, surgical anti-reflux intervention success-rate increase, prompt regional lung alterations detection for preventing stable tissue damage, and many others.
Crostelli M.,Bambino Gesu Pediatric Hospital
European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society | Year: 2013
The association of scoliosis and spondylolisthesis is well documented in literature; the nature and modalities of the relationship of the two pathologies are variable and not always clear. Also, etiologic particulars of scoliosis associated with spondylolisthesis are not well defined, even in cases where scoliosis is called idiopathic. In this paper, we review previous literature and discuss the different aspects of the mutual relationship of scoliosis and spondylolisthesis in the adolescent age. It is a common notion that the highest occurrence of scoliosis associated with spondylolisthesis is at the lumbar level, both in adolescent and in adult patients. It is probable that the scoliosis that is more heavily determined by the presence of spondylolisthesis is at the lumbar level and presents curve angle lower than 15° Cobb and mild rotation. The scoliosis with curve value over 15° Cobb that is present at the lumbar level in association with spondylolisthesis probably is not prominently due to spondylolisthesis: in these cases, spondylolisthesis is probably only partially responsible for scoliosis progression with a spasm mechanism and/or due to rotation of slipping "olisthetic" vertebra. We think that the two pathologies should be treated separately, as stated by many other authors, but we would highlight the concept that, whatever be the scoliosis curve origin, spasm, olisthetic or mixed together, this origin has no influence on treatment. The curves should be considered, for all practical effects, as so-called idiopathic scoliosis. We think that generally patient care should be addressed to treat only spondylolisthesis or only scoliosis, if it is necessary on the basis of clinical findings and therapeutic indications of the isolated pathologies, completely separating the two diseases treatments. Scoliosis should be considered as an independent disease; only in the case of scoliosis curve progression over time, associated scoliosis must be treated, according to therapeutic principles of the care of any so-called idiopathic scoliosis of similar magnitude, and a similar approach must be applied in the case of spondylolisthesis progression or painful spondylolisthesis.
Putignani L.,Bambino Gesu Pediatric Hospital |
Menichella D.,Bambino Gesu Pediatric Hospital
Interdisciplinary Perspectives on Infectious Diseases | Year: 2010
Cryptosporidium spp. are coccidians, oocysts-forming apicomplexan protozoa, which complete their life cycle both in humans and animals, through zoonotic and anthroponotic transmission, causing cryptosporidiosis. The global burden of this disease is still underascertained, due to a conundrum transmission modality, only partially unveiled, and on a plethora of detection systems still inadequate or only partially applied for worldwide surveillance. In children, cryptosporidiosis encumber is even less recorded and often misidentified due to physiological reasons such as early-age unpaired immunological response. Furthermore, malnutrition in underdeveloped countries or clinical underestimation of protozoan etiology in developed countries contribute to the underestimation of the worldwide burden. Principal key indicators of the parasite distribution were associated to environmental (e.g., geographic and temporal clusters, etc.) and host determinants of the infection (e.g., age, immunological status, travels, community behaviours). The distribution was geographically mapped to provide an updated picture of the global parasite ecosystems. The present paper aims to provide, by a critical analysis of existing literature, a link between observational epidemiological records and new insights on public health, and diagnostic and clinical impact of cryptosporidiosis. Copyright © 2010 L. Putignani and D. Menichella.
Crostelli M.,Bambino Gesu Pediatric Hospital |
Mazza O.,Bambino Gesu Pediatric Hospital
European Spine Journal | Year: 2013
Introduction The association of scoliosis and spondylolisthesis is well documented in literature; the nature and modalities of the relationship of the two pathologies are variable and not always clear. Also, etiologic particulars of scoliosis associated with spondylolisthesis are not well defined, even in cases where scoliosis is called idiopathic. In this paper, we review previous literature and discuss the different aspects of the mutual relationship of scoliosis and spondylolisthesis in the adolescent age. Materials and methods It is a common notion that the highest occurrence of scoliosis associated with spondylolisthesis is at the lumbar level, both in adolescent and in adult patients. It is probable that the scoliosis that is more heavily determined by the presence of spondylolisthesis is at the lumbar level and presents curve angle lower than 15° Cobb and mild rotation. The scoliosis with curve value over 15° Cobb that is present at the lumbar level in association with spondylolisthesis probably is not prominently due to spondylolisthesis: in these cases, spondylolisthesis is probably only partially responsible for scoliosis progression with a spasm mechanism and/or due to rotation of slipping "olisthetic" vertebra. Discussion We think that the two pathologies should be treated separately, as stated by many other authors, but we would highlight the concept that, whatever be the scoliosis curve origin, spasm, olisthetic or mixed together, this origin has no influence on treatment. The curves should be considered, for all practical effects, as so-called idiopathic scoliosis. We think that generally patient care should be addressed to treat only spondylolisthesis or only scoliosis, if it is necessary on the basis of clinical findings and therapeutic indications of the isolated pathologies, completely separating the two diseases treatments. Conclusions Scoliosis should be considered as an independent disease; only in the case of scoliosis curve progression over time, associated scoliosis must be treated, according to therapeutic principles of the care of any socalled idiopathic scoliosis of similar magnitude, and a similar approach must be applied in the case of spondylolisthesis progression or painful spondylolisthesis. © Springer-Verlag 2012.
Manco M.,Bambino Gesu Pediatric Hospital |
Dallapiccola B.,Bambino Gesu Pediatric Hospital
Pediatrics | Year: 2012
Onset of obesity has been anticipated at earlier ages, and prevalence has dramatically increased worldwide over the past decades. Epidemic obesity is mainly attributable to modern lifestyle, but family studies prove the significant role of genes in the individual's predisposition to obesity. Advances in genotyping technologies have raised great hope and expectations that genetic testing will pave the way to personalized medicine and that complex traits such as obesity will be prevented even before birth. In the presence of the pressing offer of direct-to-consumer genetic testing services from private companies to estimate the individual's risk for complex phenotypes including obesity, the present review offers pediatricians an update of the state of the art on genomics obesity in childhood. Discrepancies with respect to genomics of adult obesity are discussed. After an appraisal of findings from genome-wide association studies in pediatric populations, the rare variant-common disease hypothesis, the theoretical soil for next-generation sequencing techniques, is discussed as opposite to the common disease-common variant hypothesis. Nextgeneration sequencing techniques are expected to fill the gap of "missing heritability" of obesity, identifying rare variants associated with the trait and clarifying the role of epigenetics in its heritability. Pediatric obesity emerges as a complex phenotype, modulated by unique gene-environment interactions that occur in periods of life and are "permissive" for the programming of adult obesity. With the advent of next-generation sequencing techniques and advances in the field of exposomics, sensitive and specific tools to predict the obesity risk as early as possible are the challenge for the next decade. Copyright © 2012 by the American Academy of Pediatrics.
Dentici M.L.,Bambino Gesu Pediatric Hospital |
Mingarelli R.,Bambino Gesu Pediatric Hospital |
Dallapiccola B.,Bambino Gesu Pediatric Hospital
American Journal of Medical Genetics, Part A | Year: 2011
Blepharophimosis-mental retardation syndromes (BMRS) include a group of clinically and etiologically heterogeneous conditions, which can occur as isolated features or as part of distinct disorders displaying multiple congenital anomalies. We report on two siblings, a 6-year-old girl and an 18-month-old male, presenting with overlapping clinical findings. Major characteristics included facial dysmorphisms with upward slanted palpebral fissures, blepharophimosis, telecanthus, hypertelorism, posteriorly rotated and abnormal ears, and micrognathia. Ectodermal abnormalities consisted of fine hair, sparse eyebrows, and thin skin. Both patients had feeding difficulties with gastro-esophageal reflux and growth retardation. Psychomotor skills were severely delayed with no verbal capacity. The male sib also displayed low growth hormone (GH) levels, while the older sister had low cholesterol and mildly elevated TSH levels. Numerous metabolic/genetic investigations, including cholesterol precursors, dosage, and high-resolution array-CGH, were negative. BMR syndromes, including Dubowitz syndrome, Marden-Walker syndrome, Ohdo/Ohdo-like syndromes, and the cholesterol storage disorders were considered. We concluded that these two patients are affected by a possible autosomal recessive condition within the heterogeneous clinical spectrum of BMRS, fitting with the Young-Simpson syndrome subtype. © 2011 Wiley-Liss, Inc.