Search results for "Normal"
showing 10 items of 2571 documents
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…
Prevalence and risk factors for sensorineural hearing loss: Western Sicily overview.
2013
The objective of this work was to evaluate the prevalence of sensorineural hearing loss (SNHL) and distribution of the main risk factors associated to it focusing on their role in the development of deafness and their interaction. We performed a global audiological assessment (through TEOAE, tympanometry and ABR) in 508 infants at risk studying the main risk factors reported by Joint Committee on Infant Hearing (2007). Fifty-one infants (10.03 %) were diagnosed with SNHL (45 bilateral and 6 unilateral) with a mean hearing threshold of 87.39 ± 28.25 dB HL; family history of hearing impairment (HI) and TORCH infections indicated independent significant risk factors (P < 0.00001 and P = 0.0…
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…
Steatocrit test: Normal range and physiological variations in infants
1990
In order to define the normal values of steatocrit during the first 3 months of life and the normal correlation between fecal fat content and steatocrit values, 60 full-term healthy unweaned infants (30 bottle-fed, 15 breast-fed, and 15 mixed-fed) were studied. The steatocrit micromethod was performed in these babies at 7, 14, 21, 28, 45, and 90 days after birth. Steatorrhea often occurs during the first month and then decreases, as shown by the fall in the steatocrit curve from 7th to 28th day in our subjects; at 45 days, few babies have steatorrhea. The 90th percentile profile of steatocrit values shows a value of 25% at the first week of life and a value of 13% at the fourth week. After …
Primary double teeth. A retrospective clinical study of their morphological characteristics and associated anomalies
2000
Aim. To investigate the relationship between morphology and position of double teeth, and the occurrence of other dental anomalies in the same subjects and in their siblings. Sample of children and methods. Fifty-three double teeth in a group of 50 Spanish children were included in the study. All of these children were examined clinically and had radiographs and photographs taken at the time of examination. Twenty-two of the children had a total of 30 siblings who were also examined for the presence of anomalies. Results. Of the 50 subjects, 47 had one and three subjects had two double teeth. Statistically there were no significant differences in occurrence between boys and girls, left and …
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…