Search results for "neon"
showing 10 items of 760 documents
Push-and-Pull Enteroscopy Using the Double-Balloon Technique (Double-Balloon Enteroscopy) for the Diagnosis of Meckel's Diverticulum in Adult Patient…
2006
Meckel's diverticulum (MD) occurs in 2-3% of the population. Although the clinical, histopathologic, and radiologic features of the complications of MD are well known, the diagnosis may be difficult before surgery.Three patients (age 22-34 yr, two women) presenting with gastrointestinal (GI) bleeding of obscure origin underwent multiple endoscopic and radiologic tests including capsule endoscopy and Tc-99m pertechnetate scintigraphy before push-and-pull enteroscopy using a double-balloon technique (double-balloon enteroscopy). Double-balloon enteroscopy was performed in all three patients using oral and anal approaches to evaluate the entire intestine. In one case, MD was detected using the…
Oxidative stress markers at birth: Analyses of a neonatal population
2015
In order to further understand neonatal stress and, thus, control it efficaciously, there is a need for more information on the manifestations of stress at the molecular level in the newborn, with particular regard to oxidants, and anti-oxidant and anti-stress mechanisms, including mitochondrial heat shock protein-chaperones such as Hsp60. We investigated patterns of anti-oxidants, biomarkers of oxidative stress, and Hsp60 levels in sera from newborns and found significant associations between glutathione (GSH) levels and gestational age, delivery modality, and lipid hydroperoxydes (LOOH) level. LOOH levels and spontaneous (vaginal) delivery were independently associated with increased GSH …
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
2007
X-linked mental retardation has been traditionally divided into syndromic (S-XLMR) and non-syndromic forms (NS-XLMR), although the borderlines between these phenotypes begin to vanish and mutations in a single gene, for example PQBP1, can cause S-XLMR as well as NS-XLMR. Here, we report two maternal cousins with an apparently X-linked phenotype of mental retardation (MR), microphthalmia, choroid coloboma, microcephaly, renal hypoplasia, and spastic paraplegia. By multipoint linkage analysis with markers spanning the entire X-chromosome we mapped the disease locus to a 28-Mb interval between Xp11.4 and Xq12, including the BCOR gene. A missense mutation in BCOR was described in a family with …
A comparison of mothers’ and fathers’ experiences of the attachment process in a neonatal intensive care unit
2008
Aim. To compare mothers’ and fathers’ individual views and experiences of the attachment process in a neonatal intensive care unit within the first week after a premature birth. Background. The attachment between parents and children is a precursor to the consolidation of parenting skills, the growth and development of the infant and the establishment of a bond between parent and child. Premature birth and the resultant hospitalization disrupt the normal attachment process between parent and child. Most of the litteraure on attachment theory focuses on the mother–child connection and is being criticised for regarding the father's role as supportive and peripheral. Methods. The design of …
High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability.
2007
Mutation screening of the BRCA1 and BRCA2 genes in probands with familial breast/ovarian cancer has been greatly improved by the multiplex ligation-dependent probe amplification (MLPA) assay able to evidence gene rearrangements not detectable by standard screening methods. However, no criteria for selection of cases to be submitted to the MLPA test have been reported yet. We used the BRCAPro software for the selection of familial breast/ovarian cancer probands investigated with the MLPA approach after negative BRCA1/2 conventional mutation screening. One hundred and seventy-seven probands were investigated for germline BRCA1/2 mutations after assessment of genetic risk using BRCAPro. Proban…
Associations between infant and maternal characteristics measured at child age 5 months and maternal feeding styles and practices up to child age two…
2022
Facilitating positive feeding practices from infancy may be an important strategy to prevent childhood overweight and obesity. Since the feeding situation early in life constitutes a bidirectional relationship, it is important to understand the impact of both maternal and infant characteristics on maternal feeding practices to intervene in a customized and tailored way. Few studies have concurrently examined associations between maternal and infant characteristics in relation to early maternal feeding practices. The aim of the present study was to explore potential associations between infant and maternal characteristics measured at child age five months, and maternal feeding styles and pra…
Gastric outlet obstruction in a neonate because of Peutz-Jeghers syndrome
2012
Neonatal detection of Peutz-Jeghers syndrome is unusual with only 2 cases previously reported in the literature. We describe a neonate presenting with gastric outlet obstruction owing to 2 large Peutz-Jeghers polyps. The child's father and grandmother were known to have Peutz-Jeghers syndrome. On the ninth day of life, the infant underwent colonoscopy, abdominal exploration, and complete surgical resection of 3 polyps. The postoperative course was uneventful, and the patient was discharged home at the age of 3 weeks on full oral feeds. This is the first case report of inherited Peutz-Jeghers syndrome causing gastric outlet obstruction in a neonate.
A new germline mutation in BRCA1 gene in a sicilian family with ovarian cancer
2005
A group of 103 sicilian patients with hereditary and familiar breast and/or ovarian cancer were screened for Breast Cancer 1 gene (BRCA1) mutations by direct sequencing PCR products spanning the coding region and partial intronic regions of the BRCA1 gene. In this study, we report a new germline mutation in BRCA1 gene, not previously reported in the BIC database, in a woman with ovarian cancer at 46 years old. Mother's proband has been diagnosed the same histotype of ovarian cancer at 42 age. The mutational analyses that shown a 4843delC frameshift mutation in exon 16 of BRCA1 gene was extended to other family members including the proband's brother and her two sons. Direct automatic sequen…
GAA trinucleotide repeat expansion in variant Friedreich's ataxia families.
1997
Phenotypic variants in Friedreich's ataxia include late onset, preservation of the lower limbs tendon reflexes, and slow progression. We describe clinical and electrophysiological features from three families with Friedreichlike phenotypes. Friedreich's ataxia diagnosis was confirmed by finding two allelic expansions of the GAA trinucleotide repeat at the X25 gene. In family 1 both patients had a late-onset phenotype with preservation of knee and ankle jerks, lack of cardiomyopathy, and preserved H reflex. One of them did not have electrophysiologic evidence of sensory axonal neuropathy. Patients from family 2 showed variability in the age of onset, and 2 out of 3 affected children had hype…
Gly114Asp mutation of rhodopsin in autosomal dominant retinitis pigmentosa
1995
Two autosomal dominant retinitis pigmentosa families of different origin were screened for rhodopsin mutations using the method of single strand conformation polymorphism and direct sequencing. We found a CGG-CAG substitution in codon 114 of rhodopsin in both families. This change predicted the replacement of a glycine by an aspartic acid and suggested that this change is the cause of the disease in these families.