Molecular Polymorphisms of Vascular Endothelial Growth Factor Gene and Bronchopulmonary Dysplasia in Very Low Birth Weight Infants.

Background: Bronchopulmonary dysplasia (BPD) is a chronic lung disease affecting primarily preterm and very low birth weight (VLBW) infants. Despite the advances in perinatal care, BPD remains a major clinical and costly complication in premature infants. The pathogenesis of BPD is complex and multifactorial.

Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns.

Vertebrate genomes contain major (>99.5%) and minor (<0.5%) introns that are spliced by the major and minor spliceosomes, respectively.

Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome.

Cornelia de Lange syndrome (CdLS), Rubinstein-Taybi syndrome (RSTS), and KBG syndrome are three distinct developmental human disorders. Variants in seven genes belonging to the cohesin pathway, NIPBL, SMC1A, SMC3, HDAC8, RAD21, ANKRD11, and BRD4, were identified in about 80% of patients with CdLS, suggesting that additional causative genes remain to be discovered. Two genes, CREBBP and EP300, have been associated with RSTS, whereas KBG results from variants in ANKRD11.

Determinants of neonatal hypoglycemia after antenatal administration of corticosteroids (ACS) for lung maturation: Data from two referral centers and review of the literature.

Background: A correlation between ACS and neonatal hypoglycemia has been recently demonstrated.

Aims: The aim of the study was to evaluate the determinants of neonatal hypoglycemia in women exposed to ACS for respiratory distress syndrome prevention.

Material And Methods: Retrospective, multicenter, cohort study conducted in two Tertiary University Units.

Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)- and Spondylodysplastic-EDS-.

Variations in genes encoding for the enzymes responsible for synthesizing the linker region of proteoglycans may result in recessive conditions known as "linkeropathies". The two phenotypes related to mutations in genes and (encoding for galactosyltransferase I and II respectively) are similar, characterized by short stature, hypotonia, joint hypermobility, skeletal features and a suggestive face with prominent forehead, thin soft tissue and prominent eyes. The most outstanding feature of these disorders is the combination of severe connective tissue involvement, often manifesting in newborns and infants, and skeletal dysplasia that becomes apparent during childhood.

Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype.

Lowry-Wood syndrome (LWS) is a skeletal dysplasia characterized by multiple epiphyseal dysplasia associated with microcephaly, developmental delay and intellectual disability, and eye involvement. Pathogenic variants in RNU4ATAC, an RNA of the minor spliceosome important for the excision of U12-dependent introns, have been recently associated with LWS. This gene had previously also been associated with microcephalic osteodysplastic primordial dwarfism (MOPD) and Roifman syndrome (RS), two distinct conditions which share with LWS some skeletal and neurological anomalies.

Detoxification genes polymorphisms in SIDS exposed to tobacco smoke.

The best hypothesis to explain Sudden Infant Death Syndrome (SIDS) pathogenesis is offered by the "triple risk model", which suggests that an interaction of different variables related to exogenous stressors and infant vulnerability may lead to the syndrome. Environmental factors are triggers that act during a particular sensible period, modulated by intrinsic genetic characteristics. Although literature data show that one of the major SIDS risk factors is smoking exposure, a specific involvement of molecular components has never been highlighted.

Universal newborn hearing screening: the experience of the University Hospital of Parma.

Background And Aim: Early diagnosis of congenital deafness is fundamental to minimize the negative consequences on a child's educational and psychosocial development. To lower the age of hearing-impaired children at the time of diagnosis, universal neonatal hearing screening (UNHS) is considered essential. The aim of this study was to review tha data of the first 4 years of implementation of UNHS in the University Hospital of Parma.

Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.

Rubinstein-Taybi syndrome (RSTS) is a rare, clinically heterogeneous disorder characterized by cognitive impairment and several multiple congenital anomalies. The syndrome is caused by almost private point mutations in the CREBBP (~55% of cases) and EP300 (~8%) genes. The CREBBP mutational spectrum is variegated and characterized by point mutations (30-50 %) and deletions (~10%).

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities, and subdivided in TRPS I, caused by mutations in TRPS1, and TRPS II, caused by a contiguous gene deletion affecting (amongst others) TRPS1 and EXT1. We performed a collaborative international study to delineate phenotype, natural history, variability, and genotype-phenotype correlations in more detail. We gathered information on 103 cytogenetically or molecularly confirmed affected individuals.

Recessive bullous dermolysis of the newborn in preterm siblings with a missense mutation in type VII collagen.

Bullous dermolysis of the newborn is a dominant or recessive inherited subtype of dystrophic epidermolysis bullosa characterized by the tendency to spontaneously stop blistering within the first months of life. Here we report two siblings with bullous dermolysis of the newborn who were born prematurely and have a novel recessive mutation, p.Pro2259Leu, in the triple helix domain of type VII collagen.

Are there any strategies to improve neonatal outcomes associated with epidural analgesia in labor?

Background And Aim Of The Work: This study was aimed at evaluating the relationship between epidural analgesia and perinatal outcomes and at verifying the advisability of procedural changes in assistance to labor.

Subjects And Methods: From January to December 2012, we conducted a retrospective case-control study on 1,963 laboring pregnant women admitted to the Parma University Hospital. We considered two groups: Group 1 received epidural analgesia and Group 2 received no analgesia.

FAM111A mutations result in hypoparathyroidism and impaired skeletal development.

Kenny-Caffey syndrome (KCS) and the similar but more severe osteocraniostenosis (OCS) are genetic conditions characterized by impaired skeletal development with small and dense bones, short stature, and primary hypoparathyroidism with hypocalcemia. We studied five individuals with KCS and five with OCS and found that all of them had heterozygous mutations in FAM111A. One mutation was identified in four unrelated individuals with KCS, and another one was identified in two unrelated individuals with OCS; all occurred de novo.

Unilateral ectopic parotid gland in CHARGE syndrome.

Unilateral absence of a parotid gland at the expected location is an extremely rare condition with only a few cases reported in the medical literature and, to our knowledge, never previously described in association with CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness). Although this entity is usually associated with a complex constellation of anomalies, additional findings have been described, including cranial nerve dysfunction (VII, VIII, IX and X). We present a case that illustrates the association of CHARGE syndrome with absence of parotid gland at normal location with ectopic parotid tissue lateral to masseter muscle, incidentally detected on brain MRI and subsequently confirmed on neck MRI.

Serotonin transporter role in identifying similarities between SIDS and idiopathic ALTE.

Objective: Considering previous genetic studies on sudden infant death syndrome (SIDS) and the role of L/L serotonin transporter (5HTT) genotype and correlated genes monoamine oxidase A (MAOA) and dopamine transporter (DAT) in unexpected death, an investigation was carried out verifying their involvement in apparent life-threatening events (ALTE and idiopathic form [IALTE]), also assessing common molecular basis with SIDS.

Methods: Differential diagnoses in 76 ALTE infants, distinguishing ALTE from IALTE was elaborated by using clinical-diagnostic data. Genotypes/allelic frequencies of DAT, MAOA, and 5HTT were determined in ALTE and IALTE infants and compared with data obtained from 20 SIDS and 150 controls.

Clinical and polygraphic improvement of breathing abnormalities after valproate in a case of Pitt-Hopkins syndrome.

Pitt-Hopkins syndrome is a rare genetic form of severe psychomotor delay, caused by mutations in transcription cell factor-4 gene and characterized by distinctive dysmorphic features and abnormal breathing pattern. The current report describes the polygraphic features of the syndrome's typical breathing pattern in a patient both in wakefulness and in sleep. The control of these breathing alterations is important to prevent the neurological sequelae linked to chronic cerebral hypoxemia in early ages.

Mandibular distraction in neonates: indications, technique, results.

Background: The Pierre Robin Sequence features were first described by Robin in 1923 and include micrognathia, glossoptosis and respiratory distress with an incidence estimated as 1:8,500 to 1:20,000 newborns. Upper airway obstruction and feeding difficulties are the main concerns related to the pathology. Mandibular distraction should be considered a treatment option (when other treatments result inadequate).

SMC1A codon 496 mutations affect the cellular response to genotoxic treatments.

Cornelia de Lange syndrome is a pleiotropic developmental syndrome characterized by growth and cognitive impairment, facial dysmorphic features, limb anomalies, and other malformations. Mutations in core cohesin genes SMC1A and SMC3, and the cohesin regulatory gene, NIPBL, have been identified in Cornelia de Lange syndrome probands. Patients with NIPBL mutations have more severe phenotypes when compared to those with mutations in SMC1A or SMC3.

The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.

Pitt-Hopkins syndrome (PTHS) is characterized by severe intellectual disability, typical facial gestalt and additional features, such as breathing anomalies. Following the discovery of the causative haploinsufficiency of transcription factor 4 (TCF4), about 60 patients have been reported. We looked for TCF4 mutations in 63 patients with a suspected PTHS.

Apparent life threatening event and gastric antral ulcer in a full-term infant: any possible relationship?

We describe the case of an apparently healthy newborn infant who in 7th day of life showed an episode of haematemesis and in 13th day of life presented an episode of apparent life threatening event (ALTE). A fibroscopy of the upper digestive tract showed a great ulcer of the gastric antrum and esophagitis limited to the mucosa. Gastrinemia in the blood showed high values (121 pg/ml).

Craniosynostosis: prenatal diagnosis by means of ultrasound and SSSE-MRI. Family series with report of neurodevelopmental outcome and review of the literature.

Introduction: Craniosynostosis is a condition characterized by a premature closure of one or more skull sutures and refers to a wide spectrum of cranial malformation with an estimated birth of 1:2,000-1:4,000 live births. Four receptors (FGFR 1, FGFR 2, FGFR 3, FGFR 4) involving mutation in the fibroblast growth factor have been identified.

Materials And Methods: Two cases occurred in the same family and diagnosed prenatally by means of ultrasound, and antenatal and postnatal MR imaging are reported.

Evidence that polymorphic deletion of the glutathione S-transferase gene, GSTM1, is associated with esophageal atresia.

Background: Esophageal atresia (EA) is a life-threatening congenital condition whose etiology and pathogenesis are still poorly understood. An increasing trend of this pathology in some Italian regions suggests a possible interaction between xenobiotics and genes involved in detoxification processes during early embryonic development. For the first time polymorphisms of GSTM1, GSTT1, and GSTP1 genes were analyzed in association with EA.