Search results for "Abnormalities"
showing 10 items of 638 documents
Intrauterine growth restriction and congenital malformations: a retrospective epidemiological study
2013
Background: Intrauterine growth restriction (IUGR) and small for gestational age (SGA) birth have been considered possible indicators of the presence of malformations. The aim of this study is to evaluate such relationships in a population of newborns, along with other epidemiological and auxological parameters, in particular the ponderal index (PI). Methods: We analyzed the birth data of 1093 infants, classified according to weight for gestational age as SGA, appropriate for gestational age (AGA) or large for gestational age (LGA). The prevalence of malformations was analyzed in relation to weight percentile at birth and SGA birth, maternal smoking, pregnancy diseases and PI. Results: Our …
Maternal occupation in the leather industry and selected congenital malformations.
1998
OBJECTIVES: Data from a hospital based case-control study were analysed to assess the relation between maternal occupation in the leather industry and several groups of congenital defects (nervous system, cardiac defects of closure, oral cleft, epispadia or hypospadia, and multiple anomalies). METHODS: Cases and controls were selected from eight public hospitals in Comunidad Valenciana, Spain, in 1993 and 1994. Cases were located from the hospital discharge records, including children born and diagnosed in some of the selected hospitals during their first year of life. Controls were selected from births without congenital defects in the same hospitals and dates of the cases (ratio 1:1). Bot…
Clinical approach to the analysis of causes of death in the first two years of life of very‐low‐birthweight infants in a multicentre setting
1997
Mortality in the first 2 years of 634 very-low-birthweight infants admitted to eight neonatal intensive care units in Italy, and the factors associated with the net probability of death from each cause, were studied by means of the Cox proportional hazard model. A clinical classification of the causes of death was used. Overall mortality was 33.7% (intercentre range 12.6-52.9%). The highest cause-specific mortality rates were observed for respiratory problems, intra-ventricular haemorrhage (IVH) and infections (14.5%, 6.3% and 5.7% respectively). The leading causes of death were respiratory problems and IVH in the first week of life, infections from the second week up to the end of the firs…
Kabuki make-up (Niikawa-Kuroki) syndrome: Clinical and radiological observations in two sicilian children
1991
The Authors describe two patients aged 5 and 8, a female and a male, affected by a condition of polymalformations known as Kabuki make-up or Niikawa-Kuroki syndrome, having a neonatal incidence of 1:32,000 in Japan. There are two hypothesis about the apparent rarity of the syndrome in the rest of the world, including the Asian Continent: the first is that it exists, but is infrequently recognized outside Japan and the second is that it is really more frequent in those parts of the world, where ethnic exchanges are uncommon, as it happens in Japan.
Congenital cytomegalovirus related intestinal malrotation: a case report
2016
Background: Cytomegalovirus is the most common cause of congenital infection in the developed countries. Gastrointestinal involvement has been extensively described in both adult and paediatric immunocompromised patients but it is infrequent in congenital or perinatal CMV infection. Case presentation: We report on a case of coexistent congenital Cytomegalovirus infection with intestinal malrotation and positive intestinal Cytomegalovirus biopsy. At birth the neonate showed clinical and radiological evidence of intestinal obstruction. Meconium passed only after evacuative nursing procedures; stooling pattern was irregular; gastric residuals were bile-stained. Laparatomy revealed a complete i…
Bifid mandibular condyles: A systematic review.
2018
Background Bifid mandibular condyle (BMC) constitutes an extremely rare disorder characterized by a duplication of the head of the mandibular condyle. Its prevalence ranges from 0.31% to 1.82% in the published literature. Objectives The primary objective was to describe the main etiological, clinical and radiological characteristics of patients with BMCs and the existent treatment options. The secondary objective was to simultaneously include the characteristics of two new cases of BMC. Material and Methods An electronic search in Pubmed (MEDLINE), Scopus and The Cochrane Library was carried out by two independent reviewers until April 2018. Prospective or retrospective cohort studies, case…
First results of a European multi-center registry of patients with anorectal malformations.
2013
Background: The European consortium on anorectal malformations (ARM-NET) was established to improve the health care of patients and to identify genetic and environmental risk factors. The aim of the present study was to present the first results on clinical data of a large European cohort of ARM patients based on our registry. Methods: In 2010, the registry was established including patient characteristics and data on diagnosis, surgical therapy, and outcome regarding complications. Patients born between 2007 and 2012 were retrospectively added. A descriptive analysis of this cohort was performed. Results: Two hundred and three ARM patients were included. Syndromes or chromosomal abnormalit…
A bioinformatics analysis of Lamin-A regulatory network: a perspective on epigenetic involvement in Hutchinson-Gilford progeria syndrome.
2012
Hutchinson-Gilford progeria syndrome (HGPS) is a rare human genetic disease that leads to premature aging. HGPS is caused by mutation in the Lamin-A (LMNA) gene that leads, in affected young individuals, to the accumulation of the progerin protein, usually present only in aging differentiated cells. Bioinformatics analyses of the network of interactions of the LMNA gene and transcripts are presented. The LMNA gene network has been analyzed using the BioGRID database (http://thebiogrid.org/) and related analysis tools such as Osprey (http://biodata.mshri.on.ca/osprey/servlet/Index) and GeneMANIA ( http://genemania.org/). The network of interaction of LMNA transcripts has been further analyze…
[Cystic dysplasia of rete testis associated with ipsilateral renal agenesis. Case report].
2003
Cystic dysplasia of the rete testis is a rare abnormality often associated with the ipsilateral agenesis of kidney. This malformation is due to a development defect of the mesonephric duct which is the cause of both the dilation of the testicular rete testis and renal agenesis. A case of this rare malformation, showing all the peculiarities described in the medical literature, is presented. A 3 years-4 months boy was examined for an asymptomatic left scrotal mass; thus, he underwent ultrasonography, which showed a multiple tubular and cystic dilatation of left rete testis, associated with the absence of left kidney, afterward confirmed by MAG3-radionuclide scan. Diagnosis was also validated…
Mutation ofPOC1Bin a Severe Syndromic Retinal Ciliopathy
2014
We describe a consanguineous Iraqi family with Leber congenital amaurosis (LCA), Joubert syndrome (JBTS), and polycystic kidney disease (PKD). Targeted next-generation sequencing for excluding mutations in known LCA and JBTS genes, homozygosity mapping, and whole-exome sequencing identified a homozygous missense variant, c.317G>C (p.Arg106Pro), in POC1B, a gene essential for ciliogenesis, basal body, and centrosome integrity. In silico modeling suggested a requirement of p.Arg106 for the formation of the third WD40 repeat and a protein interaction interface. In human and mouse retina, POC1B localized to the basal body and centriole adjacent to the connecting cilium of photoreceptors and in …