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Italian Journal of Pediatrics

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https://www.readbyqxmd.com/read/30305128/a-child-with-intellectual-disability-and-dysmorphism-due-to-complex-ring-chromosome-6-identification-of-molecular-mechanism-with-review-of-literature
#1
Frenny Sheth, Thomas Liehr, Viraj Shah, Hillary Shah, Stuti Tewari, Dhaval Solanki, Sunil Trivedi, Jayesh Sheth
BACKGROUND: Ring chromosome 6 (r(6)) is a rare disorder that mainly occurs as a 'de novo' event. Nonetheless, a wide phenotypic spectrum has been reported in r(6) cases, depending on breakpoints, size of involved region, copy number alterations and mosaicism of cells with r(6) and/or monosomy 6 due to loss of r(6). CASE PRESENTATION: An 11-year-old male was referred with developmental delay, intellectual disability and microcephaly. Physical examination revealed additionally short stature and multiple facial dysmorphisms...
October 11, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30261918/improvement-of-treatment-adherence-with-growth-hormone-by-easypod%C3%A2-device-experience-of-an-italian-centre
#2
Maria Cristina Maggio, Beatrice Vergara, Paolo Porcelli, Giovanni Corsello
BACKGROUND: One of the most important vulnerabilities falling the efficacy of recombinant human growth hormone (r-hGH) treatment is low adherence especially in young patients. This study was planned to describe the correlation between r-hGH treatment efficacy and adherence in real-life setting using easypod™. METHODS: Forty patients younger than 18 years, affected by a clinical condition in which r-hGH is available and treated with r-hGH easypod™, were enrolled in a retrospective, observational, real-world data, monocentric trial...
September 27, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30257691/evidence-that-a-primary-anti-viral-stimulation-of-the-immune-response-by-om-85-reduces-susceptibility-to-a-secondary-respiratory-bacterial-infection-in-mice
#3
Giovanni A Rossi, Wolfgang Bessler, Stefania Ballarini, Christian Pasquali
BACKGROUND: Viral respiratory infections may promote bacterial super-infection decreasing the host immune response efficiency. However, using a mice model we recently demonstrated that preventive treatment with the bacterial extract OM-85 reduces the susceptibility to a secondary Streptococcus (S.) pneumoniae infection after influenza virus (I.V.) challenge. METHODS: To better characterize the efficacy of OM-85 against S. pneumoniae super-infection, a post-hoc analysis was conducted, comparing efficacy (survival) and morbidity signs (clinical score, body temperature and weight loss) in the OM-85 and the control (BLANC) groups of mice after: a) I...
September 26, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30249290/morphine-induced-supraventricular-tachycardia-in-near-term-fetus
#4
Zanardo Vincenzo, Simbi Alphonse, Parotto Matteo, Severino Lorenzo, Carta Riccardo, Guerrini Pietro, Straface Gianluca
BACKGROUND: Fetal supraventricular tachycardia (SVT), characterized by fetal heart rate between 220 and 260 bpm, is a rare but most commonly encountered fetal cardiac arrhythmia in pregnancy that may be associated with adverse perinatal outcome. CASE PRESENTATION: We describe a 36/6 week near term fetus who presented morphine-induced SVT after maternal treatment of a renal colic. Following emergency cesarean section, the neonate had resolution of symptoms. CONCLUSIONS: The pathophysiology of morphine-related SVT, previously documented in experimental animal models, and for the first time reported in the human fetus, is presented...
September 24, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30231930/clinical-pitfalls-in-the-diagnosis-of-segmental-overgrowth-syndromes-a-child-with-the-c-2740g-a-mutation-in-pik3ca-gene
#5
Alice Maguolo, Franco Antoniazzi, Alice Spano, Elena Fiorini, Rossella Gaudino, Margherita Mauro, Gaetano Cantalupo, Paolo Biban, Silvia Maitz, Paolo Cavarzere
BACKGROUND: Overgrowth syndromes are known as a heterogeneous group of conditions characterized by a generalized or segmental, symmetric or asymmetric, overgrowth that may involve several tissues. These disorders, which present a wide range of phenotypic variability, are often caused by mosaic somatic mutations in the genes associated with the PI3K/AKT/mTOR cellular pathway, a signaling cascade that plays a key role in cellular growth. Overgrowth syndromes are frequently misdiagnosed...
September 19, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30223854/dietary-diversity-feeding-practice-and-its-associated-factors-among-children-age-6-23-months-in-ethiopia-from-2011-up-to-2018-a-systematic-review-and-meta-analysis
#6
REVIEW
Habtamu Temesgen, Ayenew Negesse, Wubetu Woyraw, Nakachew Mekonnen
BACKGROUND: Globally Less than one fourth of children aged 6-23 months get the recommended minimum dietary diversity feeding practice. Despite this issue is common in Ethiopia, fragmented and inconsistent findings were found. Therefore the main objective of this meta-analysis was to estimate the pooled prevalence of dietary diversity feeding practice and to identify its associated factors among children aged 6-23 months in Ethiopia. METHODS: The Preferred Reporting Items for Systematic Reviews and Meta-Analyses guideline was followed...
September 17, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30185215/adhd-prevalence-estimates-in-italian-children-and-adolescents-a-methodological-issue
#7
Laura Reale, Maurizio Bonati
BACKGROUND: Attention deficit hyperactivity disorder (ADHD) is recognized as the most common, and most studied, developmental age disorder. Basic information, such as the most appropriate case definition and the best way to evaluate the disorder's prevalence rate, however, remains an open issue. METHODS: A comprehensive meta-analysis on the epidemiology of ADHD in Italy, which was lacking from the literature, was therefore performed to attempt to estimate the actual prevalence rate of ADHD, highlighting conceptual and quantitative differences between clinical-diagnosis and survey-based symptoms studies...
September 5, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30176919/anemia-severity-among-children-aged-6-59-months-in-gondar-town-ethiopia-a-community-based-cross-sectional-study
#8
Mulugeta Melku, Kefyalew Addis Alene, Betelihem Terefe, Bamlaku Enawgaw, Belete Biadgo, Molla Abebe, Kindie Fentahun Muchie, Asemarie Kebede, Tadele Melak, Tsedalu Melku
BACKGROUND: Anemia is a public health problem affecting both developed and developing countries. Childhood anemia is associated with serious consequences including growth retardation, impaired motor and cognitive development, and increased morbidity and mortality. Hence, this study aimed at assessing the prevalence and factors associated with severity of anemia among children aged 6-59 months in Gondar town, northwest Ethiopia. METHOD: A community-based cross-sectional study was conducted...
September 3, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30170616/methylenetetrahydrofolate-reductase-polymorphism-mthfr-c677t-and-headache-in-children-a-retrospective-study-from-a-tertiary-level-outpatient-service
#9
A Orsini, I Sammartino, A Valetto, V Bertini, P Marchese, A Bonuccelli, D G Peroni
BACKGROUND: In adult studies the MTHFR C677T polymorphism has been associated with an increased risk of migraine, but little research has been done in this area in children. METHODS: A retrospective study of children referred with headache to a tertiary level Paediatric Neurology Service between 2008 and 2012. This study included only patients who had been genotyped for the MTHFR C677T polymorphism. An evaluation of homocysteine serum levels was necessary to exclude other types of migraine...
August 31, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30157897/kawasaki-disease-guidelines-of-the-italian-society-of-pediatrics-part-i-definition-epidemiology-etiopathogenesis-clinical-expression-and-management-of-the-acute-phase
#10
REVIEW
Alessandra Marchesi, Isabella Tarissi de Jacobis, Donato Rigante, Alessandro Rimini, Walter Malorni, Giovanni Corsello, Grazia Bossi, Sabrina Buonuomo, Fabio Cardinale, Elisabetta Cortis, Fabrizio De Benedetti, Andrea De Zorzi, Marzia Duse, Domenico Del Principe, Rosa Maria Dellepiane, Livio D'Isanto, Maya El Hachem, Susanna Esposito, Fernanda Falcini, Ugo Giordano, Maria Cristina Maggio, Savina Mannarino, Gianluigi Marseglia, Silvana Martino, Giulia Marucci, Rossella Massaro, Christian Pescosolido, Donatella Pietraforte, Maria Cristina Pietrogrande, Patrizia Salice, Aurelio Secinaro, Elisabetta Straface, Alberto Villani
The primary purpose of these practical guidelines related to Kawasaki disease (KD) is to contribute to prompt diagnosis and appropriate treatment on the basis of different specialists' contributions in the field. A set of 40 recommendations is provided, divided in two parts: the first describes the definition of KD, its epidemiology, etiopathogenetic hints, presentation, clinical course and general management, including treatment of the acute phase, through specific 23 recommendations.Their application is aimed at improving the rate of treatment with intravenous immunoglobulin and the overall potential development of coronary artery abnormalities in KD...
August 30, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30157893/kawasaki-disease-guidelines-of-italian-society-of-pediatrics-part-ii-treatment-of-resistant-forms-and-cardiovascular-complications-follow-up-lifestyle-and-prevention-of-cardiovascular-risks
#11
REVIEW
Alessandra Marchesi, Isabella Tarissi de Jacobis, Donato Rigante, Alessandro Rimini, Walter Malorni, Giovanni Corsello, Grazia Bossi, Sabrina Buonuomo, Fabio Cardinale, Elisabetta Cortis, Fabrizio De Benedetti, Andrea De Zorzi, Marzia Duse, Domenico Del Principe, Rosa Maria Dellepiane, Livio D'Isanto, Maya El Hachem, Susanna Esposito, Fernanda Falcini, Ugo Giordano, Maria Cristina Maggio, Savina Mannarino, Gianluigi Marseglia, Silvana Martino, Giulia Marucci, Rossella Massaro, Christian Pescosolido, Donatella Pietraforte, Maria Cristina Pietrogrande, Patrizia Salice, Aurelio Secinaro, Elisabetta Straface, Alberto Villani
This second part of practical Guidelines related to Kawasaki disease (KD) has the goal of contributing to prompt diagnosis and most appropriate treatment of KD resistant forms and cardiovascular complications, including non-pharmacologic treatments, follow-up, lifestyle and prevention of cardiovascular risks in the long-term through a set of 17 recommendations.Guidelines, however, should not be considered a norm that limits the treatment options of pediatricians and practitioners, as treatment modalities other than those recommended may be required as a result of peculiar medical circumstances, patient's condition, and disease severity or individual complications...
August 30, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30157905/does-antenatal-care-service-quality-influence-essential-newborn-care-enc-practices-in-bahir-dar-city-administration-north-west-ethiopia-a-prospective-follow-up-study
#12
Tadese Ejigu Tafere, Mesganaw Fanthahun Afework, Alemayehu Worku Yalew
BACKGROUND: The neonatal period is only 1/60th of the first 5 years of life but it accounts for 63% of all infant deaths and 44% of all under-five deaths in Ethiopia. Most causes of neonatal death are preventable with clean cord care, temperature control by delaying first bath and initiation of early breastfeeding which has additional benefit of controlling hypothermia. Poor positive pressure ventilation (PPV) with ambubag is also another essential neborn care practice to reduce neonatal death even though it was not the focus of this study with the assumption that it cannot be measured only by exit interview (needs direct observation about the procedure)...
August 29, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30143030/universal-newborn-hearing-screening-in-the-lazio-region-italy
#13
Rosaria Turchetta, Guido Conti, Pasquale Marsella, Maria Patrizia Orlando, Pasqualina Maria Picciotti, Simonetta Frezza, Francesca Yoshie Russo, Alessandro Scorpecci, Maria Gloria Cammeresi, Sara Giannantonio, Antonio Greco, Massimo Ralli
BACKGROUND: The introduction of Universal Newborn Hearing Screening (UNHS) programs has drastically contributed to the early diagnosis of hearing loss in children, allowing prompt intervention with significant results on speech and language development in affected children. UNHS in the Lazio region has been initially deliberated in 2012; however, the program has been performed on a universal basis only from 2015. The aim of this retrospective study is to present and discuss the preliminary results of the UNHS program in the Lazio region for the year 2016, highlighting the strengths and weaknesses of the program...
August 24, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30139361/fish-oil-based-lipid-emulsion-in-the-treatment-of-parenteral-nutrition-associated-cholestasis
#14
Simonetta Costa, Rossella Iannotta, Luca Maggio, Giovanni Barone, Francesca Serrao, Giovanni Vento
BACKGROUND: Parenteral nutrition-associated cholestasis (PNAC) is a serious complication in preterm infants receiving prolonged parenteral nutrition. Soybean lipid emulsion (SLE) seems to have a role in its pathogenesis, whereas fish oil-based emulsion (FOLE) seems to be able to reverse cholestasis. This study aimed to evaluate the effectiveness of a FOLE in reversing PNAC. METHODS: The effectiveness in reversing PNAC was evaluated in prospective cohort study of very preterm infants when compared to historical controls: twenty-six infants (27...
August 23, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30134984/clinical-cardiac-assessment-in-newborns-with-prenatally-diagnosed-intrathoracic-masses
#15
Ingrid Anne Mandy Schierz, Mario Giuffrè, Ettore Piro, Maria Clara Leone, Giuseppa Pinello, Giovanni Corsello
BACKGROUND: Congenital space-occupying thoracic malformations and diaphragmatic hernia have in common pulmonary hypoplasia. Our study aims to assess cardiac involvement during post-natal adaptation. METHODS: A retrospective study was carried out on newborns with prenatally diagnosed intrathoracic mass. Gathering for respiratory distress syndrome (RDS), 35 neonates were compared for clinical course, cardiovascular enzymes, ECG, and ultrasound. RESULTS: The analysis revealed a high left heart defect rate in patients with severe RDS, without being influenced by the laterality...
August 22, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30134958/malocclusion-and-rhinitis-in-children-an-easy-going-relationship-or-a-yet-to-be-resolved-paradox-a-systematic-literature-revision
#16
REVIEW
Francesca Occasi, Ludovica Perri, Matteo Saccucci, Gabriele Di Carlo, Gaetano Ierardo, Valeria Luzzi, Giovanna De Castro, Giulia Brindisi, Lorenzo Loffredo, Marzia Duse, Antonella Polimeni, Anna Maria Zicari
OBJECTIVE: The relation between nasal flow and malocclusion represents a practical concern to pediatricians, otorhinolaryngologists, orthodontists, allergists and speech therapists. If naso-respiratory function may influence craniofacial growth is still debated. Chronic mouth-breathing is reported to be associated also with a characteristic pattern of dental occlusion. On the other hand, also malocclusion may reduce nasal air flows promoting nasal obstruction. Hereby, the aim of this review was to describe the relationship between rhinitis and malocclusion in children...
August 22, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30134937/continuous-glucose-monitoring-cgm-in-very-low-birth-weight-newborns-needing-parenteral-nutrition-validation-and-glycemic-percentiles
#17
Alessandro Perri, Lucia Giordano, Mirta Corsello, Francesca Priolo, Giovanni Vento, Enrico Zecca, Eloisa Tiberi
BACKGROUND: Continuous glucose monitoring using subcutaneous sensors is useful in the management of glucose control in neonatal intensive care. We evaluated feasibility and reliability of a continuous glucose monitoring system in a population of very low birth weight neonates needing parenteral nutrition. Moreover, we presented percentiles of glycemia of the studied population. METHODS: Very low birth weight neonates were enrolled within 24 h from birth. An ENLITE sensor connected to a continuous glucose monitoring system was inserted and maintained for at least 72 h...
August 22, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30115129/etv6-runx1-positive-childhood-acute-lymphoblastic-leukemia-in-china-excellent-prognosis-with-improved-bfm-protocol
#18
Yu Wang, Hui-Min Zeng, Le-Ping Zhang
BACKGROUND: In childhood B-precursor acute lymphoblastic leukemia (B-ALL), the ETV6/RUNX1 fusion transcript is considered to have an excellent outcome. However, few studies of children with ETV6/RUNX1-positive ALL from China have been conducted. It is largely unknown whether clinical outcomes for patients with this genotype and important factors that influence such outcomes are similar to those reported in other countries. Therefore, it is important to analyze the outcomes of children with ETV6/RUNX1-positive ALL treated at our institution with the aim of identifying significant prognostic variables in a Chinese population...
August 16, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30115086/tolerance-of-preterm-formula-versus-pasteurized-donor-human-milk-in-very-preterm-infants-a-randomized-non-inferiority-trial
#19
Simonetta Costa, Luca Maggio, Giovanni Alighieri, Giovanni Barone, Francesco Cota, Giovanni Vento
BACKGROUND: Human milk (HM) is the best feeding for premature infants. When own mother's milk (OMM) is insufficient or unavailable, pasteurized donor human milk (PDHM) and preterm formula (PF) are the alternative nutritional sources, but the benefits of donor milk over formula are not defined. This study aimed to assess whether, in the absence of OMM, the PF could guarantee a feeding tolerance not inferior to that seen with the use of PDHM during the first two weeks of life of very preterm infants...
August 16, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30115077/environmental-factors-of-diarrhea-prevalence-among-under-five-children-in-rural-area-of-north-gondar-zone-ethiopia
#20
Atalay Getachew, Alebachew Tadie, Mulat G Hiwot, Tadesse Guadu, Daniel Haile, Teklay G Cherkos, Zemichael Gizaw, Marta Alemayehu
BACKGROUND: In the sub-Saharan countries, many of the children including found in health facilities are not having sufficient care of diarrhea. Diarrheal disease in these countries is one of the main causes of deaths for under-five children. METHODS: A community-based cross-sectional study design was used to collect data from May-June, 2016 to determine environmental factors of diarrhea prevalence among under five children in North Gondar Zone. Structured interview questionnaire and observational checklist were used to collect data...
August 16, 2018: Italian Journal of Pediatrics
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