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Belluno, Italy

Resta N.,University of Bari | Memo L.,Paediatrics Unit
Journal of Maternal-Fetal and Neonatal Medicine | Year: 2012

Background: Birth defects are very common, affecting two to three infants in every 100 births, and often represent a diagnostic and management challenge. The birth of a child with multiple malformations is the beginning of a complex diagnostic process, where the primary purpose is to determine a precise nosological definition. An accurate diagnosis is a key prerequisite in providing a care plan, a prognosis and genetic counselling. The poor specificity of birth defects, the aetiology and course of which can vary despite similar phenotypic patterns, often makes the diagnostic path problematic. The advent and application of high-resolution chromosomal microarray, encompassing array-based comparative genome hybridization and single-nucleotide polymorphism arrays, has led to the detection of genomic copy-number abnormalities in patients affected by multiple congenital anomalies, dysmorphisms, developmental delay and mental retardation, but who have a normal karyotype. Aim: We discuss current guidelines and recommendations for chromosomal microarray use and how its application can help clinicians make accurate diagnoses in order to appropriately manage and treat affected newborns. Conclusions: Current guidelines strongly support the application of chromosomal microarray analysis as a first-tier cytogenetic diagnostic test alternative to karyotyping for patients with multiple congenital anomalies, or developmental delay, intellectual disability and autism spectrum disorders. © 2012 Informa UK, Ltd. Source

Olza-Fernandez I.,Child and Adolescent Psychiatry Unit | Palanca-Maresca I.,Child and Adolescent Psychiatry Unit | Jimenez-Fernandez S.,Child and Adolescent Psychiatry Unit | Cazorla-Calleja M.R.,Paediatrics Unit
Journal of the Canadian Academy of Child and Adolescent Psychiatry | Year: 2012

A six-year-old girl was referred to our child psychiatry outpatient clinic by the Pediatric Neurology Unit with a diagnosis of Attention-Deficit/Hyperactivity Disorder (ADHD) and trichotillomania. She had neither eyebrows nor eyelashes. The clinical picture was of irritability, frequent tantrums, and aggressive behaviour. During the following year she presented several brief episodes of intense mood changes, which typically started with night-time onset trichotillomania and sleep disturbance. The episodes lasted no longer than five days and recurred within one or two months. A diagnosis of pediatric bipolar disorder (BD) was made after the first months of clinical follow-up. An MRI showed focal white matter hyperintensities (WMH) in T2. Source

Ahzad H.A.,Universiti Sains Malaysia | Ramli S.F.,Universiti Sains Malaysia | Loong T.M.,Paediatrics Unit | Salahshourifar I.,Universiti Sains Malaysia | And 2 more authors.
Kobe Journal of Medical Sciences | Year: 2010

Ring chromosome 6, especially if it is de novo, is a rare occurrence. The phenotype of patients with ring chromosome 6 can be highly variable ranging from almost normal to severe malformations and mental retardation. The size and structure of the ring chromosome as well as the level of mosaicism are important factors in determining the clinical phenotype. Here we report an eight month-old child, a product of a non consanguineous marriage, who presented with developmental retardation, hypertelorism, microcephaly, flat occiput, broad nasal bridge, large ears, micrognathia, wide spaced nipples, protruding umbilicus, short stubby fingers, clinodactyly, single palmar crease, short neck with no obvious webbing, and congenital heart defect. Conventional karyotyping and Whole Chromosome Paint of the peripheral leukocytes showed 46,XY,r(6)(p25q27) karyotype with plausible breakpoints at p25 and q27 end. Conventional karyotyping of both parents showed normal karyotype. To the best of our knowledge, this is the first report of a Malay individual with ring chromosome 6, and this report adds to the collective knowledge of this rare chromosome abnormality. Source

Faienza M.F.,University of Bari | Delvecchio M.,Paediatrics Unit | Giordano P.,University of Bari | Cavallo L.,University of Bari | And 3 more authors.
Endocrine | Year: 2015

A significant number of long-term complications have been described in childhood leukemia survivors. In particular, these patients may present features of metabolic syndrome (MetS), and therefore increased risk for cardiovascular diseases. The aim of this meta-analysis is to evaluate the prevalence and the risk of MetS in survivors of childhood leukemia. Two authors independently performed a systematic literature search in PubMed and EMBASE to March 2014, reviewed and selected articles, based on pre-determined selection criteria. Twelve articles, comprising 2,337 participants (1,462 cases and 875 controls), were included in the meta-analysis. Only three of them were case–control studies eligible for the meta-analysis. The childhood leukemia survivors showed an increased risk of MetS as compared to healthy controls (OR = 4.36; 95 % CI 1.19–16.22). The risk was significantly increased only in patients treated with chemotherapy and radiotherapy (OR = 7.79; 95 % CI 1.27–47.77), and not in patients treated with only chemotherapy (OR = 2.35; 95 % CI 0.40–13.78). Childhood leukemia survivors, in particular if treated also with radiotherapy, are prone to develop MetS more than healthy controls. Monitoring of MetS components in these patients is necessary to avoid cardiovascular consequences later in life. © 2014, Springer Science+Business Media New York. Source

Delvecchio M.,Paediatrics Unit | Ludovico O.,Endocrine Unit | Bellacchio E.,Research Laboratories | Stallone R.,Medical Genetics Unit | And 7 more authors.
Clinical Genetics | Year: 2013

Mutations in the glucokinase (GCK) gene are the most frequent cause of maturity onset diabetes of the young (MODY) in Italy. We evaluated GCK mutations in 32 unrelated patients younger than 18 years who had been diagnosed with MODY. Eleven different GCK heterozygous mutations were identified in 22 (68.7%) of the 32 probands. Nine mutations were missense and two were nonsense. Three of these mutations (E17X, P59S and E372X) have not been described previously and were shown to be associated with hyperglycaemia. Several prediction methods suggested that the E17X and E372X mutations result in a premature truncated protein and that the P59S mutation is pathogenic. This idea was further supported by evidence suggesting that Proline 59 is a highly conserved amino acid residue and that the P59S mutation does not appear to be present in non-diabetic controls and in sequence variant databases. Furthermore, this mutation was found in six (27.3%) of the patients from the same geographical area, Gargano, pointing to the existence of a founder effect, which was confirmed by microsatellite analysis. © 2012 John Wiley & Sons A/S. Published by Blackwell Publishing Ltd. Source

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