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Italian Journal of Pediatrics

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https://www.readbyqxmd.com/read/30514334/gambling-disorder-in-adolescents-what-do-we-know-about-this-social-problem-and-its-consequences
#1
LETTER
Pietro Ferrara, Giulia Franceschini, Giovanni Corsello
Gambling disorder (GD) is a psychiatric condition and it is characterized by a maladaptive pattern of gambling behavior that persists despite negative consequences in major areas of life functioning. In Italy, CNR (National Research Council) underlined how over 17 million, 42.8% of the population aged 15-64 have a gambling behavior. Among them, there are over one million students, aged 15-19, equal to 44.2% of Italian students; the number of minors in Italy with GD in 2017 was 580,000, equal to 33.6%. Various psychosocial treatment models have been adapted for GD; on the other hand no drug has received regulatory approval in any jurisdiction as a specific psychopharmacological treatment for GD...
December 4, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30497506/genomics-of-neonatal-sepsis-has-mir-150-targeting-bcl11b-functions-in-disease-progression
#2
Li Huang, Lixing Qiao, Huan Zhu, Li Jiang, Liping Yin
BACKGROUND: Neonatal sepsis is an inflammatory systemic syndrome, which is a major cause of morbidity and mortality in premature infants. We analyzed the expression profile data of E-MTAB-4785 to reveal the pathogenesis of the disease. METHODS: The expression profile dataset E-MTAB-4785, which contained 17 sepsis samples and 19 normal samples, was obtained from the ArrayExpress database. The differentially expressed genes (DEGs) were analyzed by the Bayesian testing method in limma package...
November 29, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30486873/off-label-drugs-use-in-pediatric-palliative-care
#3
LETTER
Lucia De Zen, Federico Marchetti, Egidio Barbi, Franca Benini
BACKGROUND: Paediatric palliative care (PPC) aim to ensure the control of symptoms and the best possible quality of life for patients whose underlying disease, characterized by an unstoppable evolution and negative prognosis, no longer responds to specific treatments. The scientific evidence in this context are very deficient and, in order to obtain welfare objectives consistent with the situation, in the overwhelming majority of cases the prescription of drugs is off-label for indication of use and/or for age and/or for way of administration and/or formulation...
November 29, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30486893/anaphylactic-shock-with-methylprednisolone-kounis-syndrome-and-hypersensitivity-to-corticosteroids-a-clinical-paradox
#4
LETTER
Nicholas G Kounis, Ioanna Koniari, George D Soufras, Emmanouil Chourdakis
Corticosteroids are widely used for the treatment of allergic reactions but paradoxically themselves may induce acute, delayed, local or systemic allergic reactions and even anaphylaxis with Kounis syndrome. They can suppress the release of arachidonic acid from mast cell membranes, via phospholipase A2 and eicosanoid biosynthesis inhibition. Corticosteroids can promote cell apoptosis and mediate in annexin or lipocortin synthesis, substances that modulate inflammatory cell activation, adhesion molecule expression, transmigratory and phagocytic functions...
November 28, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30477586/perception-of-childhood-anaemia-among-mothers-in-kumasi-a-quantitative-approach
#5
Reindolf Anokye, Enoch Acheampong, Anthony Kwaku Edusei, Wisdom Kwadwo Mprah, Justice Ofori-Amoah, Vida Maame Kissiwaa Amoah, Vincent Ekow Arkorful
BACKGROUND: Anaemia is the world's second cause of disability and it affects over half of pre-school children in developing countries and at least 30-40% in industrial countries. In poorer malaria-endemic countries, anemia is one of the commonest preventable causes of death in children under 5 years. This study sought to determine the perceived causes, signs and symptoms as well prevention of childhood anaemia among mothers of children under 5 years in Kumasi, Ghana. METHODS: A descriptive hospital-based cross-sectional study design with a sample of 228 patients attending the University Hospital, KNUST was used...
November 26, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30477557/low-birth-weight-and-its-associated-factors-in-ethiopia-a-systematic-review-and-meta-analysis
#6
REVIEW
Aklilu Endalamaw, Eshetu Haileselassie Engeda, Daniale Tekelia Ekubagewargies, Getaneh Mulualem Belay, Mekuriaw Alemayehu Tefera
BACKGROUND: Different primary studies in Ethiopia showed the burden of low birth weight. However, variation among those studies was seen. This study was aimed to estimate the national prevalence and associated factors of low birth weight in Ethiopia. METHODS: PubMed, Web of Science, Cochrane library, and Google Scholar were searched. A funnel plot and Egger's regression test were used to see publication bias. I-squared statistic was applied to check heterogeneity of studies...
November 26, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30458885/an-early-diagnosis-of-trichorhinophalangeal-syndrome-type-1-a-case-report-and-a-review-of-literature
#7
Giulia Trippella, Paolo Lionetti, Sara Naldini, Francesca Peluso, Matteo Della Monica, Stefano Stagi
BACKGROUND: Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant disorder caused by defects involving the TRPS1 gene. It exhibits distinctive craniofacial, ectodermal and skeletal abnormalities, such as sparse hair, bulbous nasal tip and short deformed fingers, with extremely variable expressivity. CASE PRESENTATION: We report the case of a 17 months old girl, who presented growth retardation and dysmorphic features. Postnatal growth was always below - 2 Standard Deviation for both weight and length and physical examination revealed relative macrocephaly, sparse hair, bulbous nasal tip, thin upper lip, protruding ears, prominent forehead, small jaw, and short hands and feet...
November 20, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30458837/hospital-clinical-pathways-for-children-affected-by-juvenile-idiopathic-arthritis
#8
L Cavazzana, M Fornili, G Filocamo, C Agostoni, F Auxilia, S Castaldi
BACKGROUND: Juvenile idiopathic arthritis (JIA) is the most common pediatric chronic rheumatic disease, which requires constant follow-up over the years, due to relapses during its progression. To maintain a good quality of life, it is important to limit admissions as far as possible. With the development of a Diagnostic Therapeutic Assistance Pathway (DTAP), we aim to select patients with suitable clinical conditions to be moved from routine hospital management to day care or outpatient treatment, evaluating the number of patients to whom this would apply...
November 20, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30458831/west-nile-virus-encephalitis-in-an-immunocompetent-pediatric-patient-successful-recovery
#9
Salvatore Savasta, Francesca Rovida, Thomas Foiadelli, Anna Maria Campana, Elena Percivalle, Gian Luigi Marseglia, Fausto Baldanti
BACKGROUND: West Nile virus (WNV) is a mosquito-borne RNA virus belonging to the Flaviviridae family. Symptomatic infection happens in only about 20% of the cases, while WNV neuroinvasive disease (WNND) is rare and accounts for less than 1%. There is insufficient information about natural history and clinical course in children, because underdiagnosis is common, and reports are scarce. On the other hand, Europe has seen a dramatic increase of WNV infections in the last decades, and the Po valley itself, in Northern Italy, has become an endemic region since 2013...
November 20, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30454066/differentiating-kawasaki-disease-from-urinary-tract-infection-in-febrile-children-with-pyuria-and-c-reactive-protein-elevation
#10
Seung Beom Han, Soo-Young Lee
BACKGROUND: Kawasaki disease (KD) is sometimes confused with urinary tract infection (UTI) because both can present with pyuria and C-reactive protein (CRP) elevation. The present study investigated the clinical and laboratory findings that can differentiate KD from UTI in febrile children with pyuria and CRP elevation. METHODS: Medical records were retrospectively reviewed for children with KD and those with UTI. The clinical and laboratory findings between the KD with pyuria group (n = 48) and the UTI group (n = 118) were compared...
November 20, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30454028/phenotypic-testicular-abnormalities-and-pubertal-development-in-boys-with-mccune-albright-syndrome
#11
LETTER
Tommaso Aversa, Giuseppina Zirilli, Domenico Corica, Filippo De Luca, Malgorzata Wasniewska
Aim of this survey is to review the few available literature data on pathophysiologic and clinical aspects of pubertal development in boys with McCune-Albright syndrome (MAS). On the basis of such analysis, we concluded that:1) peripheral precocious puberty (PPP) is significantly more infrequent in boys than in girls; 2) the most common testicular abnormality at MAS presentation is macroorchidism, that may be either monolateral or bilateral; 3) macroorchidism is not always associated with clinical and biochemical evidence of PPP; 4) testicular microlothiasis is distinctly more frequent in boys with MAS than in those without MAS; 5) the available therapeutic schedules have to be adopted already at MAS presentation only in the cases with PPP...
November 19, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30442204/new-treatments-for-the-mucopolysaccharidoses-from-pathophysiology-to-therapy
#12
REVIEW
Simona Fecarotta, Serena Gasperini, Giancarlo Parenti
Enzyme replacement therapy is currently considered the standard of care for the treatment of mucopolysaccharidoses (MPS) type I, II, VI, and IV. This approach has shown substantial efficacy mainly on somatic symptoms of the patients, but no benefit was found for other clinical manifestations, such as neurological involvement. New strategies are currently being tested to address these limitations, in particular to obtain sufficient therapeutic levels in the brain. Intrathecal delivery of recombinant enzymes or chimeric enzymes represent promising approaches in this respect...
November 16, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30442200/a-new-case-report-of-severe-mucopolysaccharidosis-type-vii-diagnosis-treatment-with-haematopoietic-cell-transplantation-and-prenatal-diagnosis-in-a-second-pregnancy
#13
Francesca Furlan, Attilio Rovelli, Miriam Rigoldi, Mirella Filocamo, Barbara Tappino, Douglas Friday, Serena Gasperini, Silvana Mariani, Claudia Izzi, Maria Pia Bondioni, Cinzia Gellera, Anna Venerando, Nicoletta Villa, Maria Del Carmen Rodriguez Perez, Fabio Pavan, Andrea Biondi, Rossella Parini
A new patient with severe mucopolysaccharidosis (MPS) type VII is reported. Non-immune hydrops fetalis (NIHF) was diagnosed during pregnancy. At birth, he showed generalized hydrops and dysmorphic features typical of MPS. Many diagnoses were excluded before reaching the diagnosis of MPS VII at 8 months of life. During the first year of life he had frequent respiratory infections associated with restrictive and obstructive bronchopneumopathy and underwent three surgical interventions: decompression of the spinal cord at the craniocervical junction, bilateral inguinal hernia, and bilateral clubfoot...
November 16, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30442189/enzyme-replacement-therapy-efficacy-and-limitations
#14
REVIEW
Daniela Concolino, Federica Deodato, Rossella Parini
Enzyme replacement therapy (ERT) is available for mucopolysaccharidosis (MPS) I, MPS II, MPS VI, and MPS IVA. The efficacy of ERT has been evaluated in clinical trials and in many post-marketing studies with a long-term follow-up for MPS I, MPS II, and MPS VI. While ERT is effective in reducing urinary glycosaminoglycans (GAGs) and liver and spleen volume, cartilaginous organs such as the trachea and bronchi, bones and eyes are poorly impacted by ERT probably due to limited penetration in the specific tissue...
November 16, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30442188/neurobehavioral-phenotypes-of-neuronopathic-mucopolysaccharidoses
#15
REVIEW
Rita Barone, Alessandra Pellico, Annarita Pittalà, Serena Gasperini
Mucopolysaccharidoses (MPS) are a group of lysosomal multisystemic, chronic, and progressive diseases characterized by the storage of glycosaminoglycans (GAGs) that may affect the central nervous system. Neuronopathic MPS such as MPS IH, MPS II, MPS IIIA-D, and MPS VII are characterized by neurocognitive regression. In severe MPS I (MPS IH, or Hurler syndrome) initial developmental trajectory is usually unremarkable but cognitive development shows a plateau by 2 to 4 years of age and then progressively regresses with aging...
November 16, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30442184/possible-strategies-to-cross-the-blood-brain-barrier
#16
REVIEW
Cinzia M Bellettato, Maurizio Scarpa
The mucopolysaccharidoses (MPS) are a heterogeneous group of in-born metabolic conditions caused by genetic defects that result in the absence or severe deficiency of one of the lysosomal hydrolases responsible for the degradation of glycosaminoglycans (GAGs). Such enzyme deficiency causes accumulation of GAGs that begins in infancy and progressively worsens, often affecting several organs including the central nervous system (CNS) inducing mental retardation, progressive neurodegeneration, and premature death...
November 16, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30442179/cerebral-and-occipito-atlanto-axial-involvement-in-mucopolysaccharidosis-patients-clinical-radiological-and-neurosurgical-features
#17
REVIEW
Carlo Giussani, Lelio Guida, Francesco Canonico, Erik P Sganzerla
BACKGROUND: Neurosurgical features of mucopolysaccharidosis (MPS) patients mainly involve the presence of cranio-vertebral junction (CVJ) abnormalities and the development of communicating hydrocephalus. CVJ pathology is a critical aspect that severely influences the morbidity and mortality of MPS patients. Hydrocephalus is slowly progressing; it must be differentiated from cerebral atrophy, and rarely requires treatment. The aim of this paper was to review the literature concerning these conditions, highlighting their clinical, radiological, and surgical aspects to provide a practical point of view for clinicians...
November 16, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30442177/gene-therapy-for-mucopolysaccharidoses-in-vivo-and-ex-vivo-approaches
#18
REVIEW
Alessandro Fraldi, Marta Serafini, Nicolina Cristina Sorrentino, Bernhard Gentner, Alessandro Aiuti, Maria Ester Bernardo
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by a deficiency in lysosomal enzymes catalyzing the stepwise degradation of glycosaminoglycans (GAGs). The current therapeutic strategies of enzyme replacement therapy and allogeneic hematopoietic stem cell transplantation have been reported to reduce patient morbidity and to improve their quality of life, but they are associated with persistence of residual disease burden, in particular at the neurocognitive and musculoskeletal levels...
November 16, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30442173/orthopaedic-challenges-for-mucopolysaccharidoses
#19
REVIEW
Andrea Borgo, Andrea Cossio, Denise Gallone, Francesca Vittoria, Marco Carbone
Mucopolysaccharidoses (MPS) are a group of diseases characterized by abnormal accumulation of glycosaminoglycans (GAGs). Although there are differences among the various disease types, the osteoarticular system is always involved. The aim of the present study was to establish a framework for MPS-related orthopaedic manifestations and for their treatment. The authors, affiliated to three different Italian Orthopaedic Centres, report data taken from the literature reviewed in light of their accumulated professional experience...
November 16, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30442171/clinical-hints-to-diagnosis-of-attenuated-forms-of-mucopolysaccharidoses
#20
REVIEW
Miriam Rigoldi, Elena Verrecchia, Raffaele Manna, Maria Teresa Mascia
The mucopolysaccharidoses (MPS) are clinically similar but also heterogeneous in terms of major or minor involvement of different organs/systems, burden of disease, and rate of progression. The attenuated forms of MPS, due to their less severe presentations, are more difficult to diagnose and often receive a significantly delayed diagnosis. On the other hand, the diagnosis is very important since the attenuated forms may benefit from earlier treatments. The aim of this paper is to describe the natural history and the clinical signs useful to arise a suspicion of an attenuated form of MPS...
November 16, 2018: Italian Journal of Pediatrics
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