Search results for "newborn."
showing 10 items of 1433 documents
Early calcification patterns of the iliac arteries and their relation to the arterial structure
1972
Gross calcifications of the common iliac and internal iliac arteries represent a common finding in newborn children and infants. In both arteries, the calcific deposits regularly appear in certain areas of the arterial luminal surface only, whereas the other parts of the arterial wall remain free of gross lesions even in cases with a pronounced calcification. In the common iliac artery, the lateral wall of the vessel and the adjacent sectors of the anterior and posterior wall represent the predilection site of calcific deposits. In the internal iliac artery, the gross calcifications have been regularly demonstrated in the dorso-medial wall. The predominant localisation of the calcification …
Proteoglycan synthesis by cultured human chondrocytes.
1994
Iliac crest biopsies are important in the detection of human skeletal dysplasias. Therefore, culture of these cells may serve as a valuable method for studying proteoglycan metabolism in chondrocytes of individuals with skeletal abnormalities. Morphological and biochemical studies were performed on human iliac crest chondrocytes grown in monolayer and in agarose gels. Two proteoglycan populations of different hydrodynamic size and glycosaminoglycan composition were synthesized by cells grown in monolayer. Chondrocytes cultured in an agarose gel for 2 weeks synthesized proteoglycans identical to those of the native tissue with respect to hydrodynamic size and glycosaminoglycan chain length. …
Human cytomegalovirus glycoprotein B genotypes in immunocompetent, immunocompromised, and congenitally infected Italian populations
2003
Human cytomegalovirus (HCMV) strains, obtained from immunocompetent and immunocompromised Italian hosts, were typed with glycoprotein B (gB) gene restriction analysis. A predominant circulation of HCMV strains with gB type 2 and 3 was detected in both the immunocompetent host with a primary HCMV infection and the immunocompromised host with or without HCMV disease. No association between gB types and subjects with different risks of developing HCMV disease was found. All four gB genotypes were capable of causing congenital infection in Italian babies, with gB type 1 accounting for 50% of the strains examined in symptomatic infants and a remarkable incidence of gB type 4 viruses.
AICA-ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long-term update on the first case.
2020
5-Amino-4-imidazolecarboxamide-ribosiduria (AICA)-ribosiduria is an exceedingly rare autosomal recessive condition resulting from the disruption of the bifunctional purine biosynthesis protein PURH (ATIC), which catalyzes the last two steps of de novo purine synthesis. It is characterized biochemically by the accumulation of AICA-riboside in urine. AICA-ribosiduria had been reported in only one individual, 15 years ago. In this article, we report three novel cases of AICA-ribosiduria from two independent families, with two novel pathogenic variants in ATIC. We also provide a clinical update on the first patient. Based on the phenotypic features shared by these four patients, we define AICA-…
“Default” versus “pre-atopic” IgG responses to foodborne and airborne pathogenesis-related group 10 protein molecules in birch-sensitized and nonatop…
2014
Background The route and dose of exposure are believed to be relevant factors in the sensitization process. Pathogenesis-related group 10 protein (PR-10) molecules are a family of allergenic proteins shared by many pollens (eg, birch and alder) and foods (eg, apple, peach, and soy). Children are exposed to both pollen-derived (inhaled) and food-derived (ingested) PR-10 molecules. Objective We sought to investigate the role of route and dose of exposure in the evolution of IgG and IgE responses to recombinant PR-10 molecules. Methods The German Multicentre Allergy Study examined a birth cohort born in 1990. Blood samples were collected at the ages of 1, 2, 3, 5, 6, 7, 10, and 13 years. Parti…
Detection of IgA and IgM antibodies to HIV-1 in neonates by radioimmune western blotting.
1992
OBJECTIVE--To detect infection with HIV-1 by IgA and IgM response at birth in children born to HIV-1 seropositive mothers. DESIGN--Western blotting and radioimmune western blotting on stored sera from infected and uninfected babies born to HIV-1 seropositive mothers. Sera were pretreated to remove IgG. SETTING--Parma and Bologna, Italy. SUBJECTS--12 infected and five uninfected babies born to HIV-1 seropositive mothers and three babies born to seronegative mothers. MAIN OUTCOME MEASURES--Effectiveness of western blotting and radioimmune western blotting in detecting antibodies to HIV-1 gene products. RESULTS--With conventional western blotting we found IgA class antibodies to HIV-1 proteins…
Proteins in preterm and term milk from mothers delivering appropriate or small-for-gestational age infants.
1986
The concentrations of total protein, secretory immunoglobulin A (IgA), lactotransferrin (LTF) and serum albumin (SA) were measured in sequential samples of colostrum, transitional and mature milk from 53 mothers divided into four groups according to gestational age and birthweight of their infants. Individual proteins were determined by single radial immunodiffusion. From the covariance analysis of data controlling for the day of lactation and the milk volume it was found that these covariables were significantly negative correlated with total protein and IgA. The concentration of LTF was also significantly negative correlated with the day but positively with the volume; whereas the contrar…
Hypercalciuria and kidney calcifications in terminal 4q deletion syndrome: further evidence for a putative gene on 4q.
2004
We report a newborn girl with a de novo terminal 4q deletion (q31.3 --> qter) and a characteristic phenotype of minor facial anomalies, cleft palate, congenital heart defect, abnormalities of hands and feet, and postnatal onset of growth deficiency. Laboratory studies showed excessive urinary calcium excretion on standard milk formula and on oral calcium load. Blood measurements of parathyroid hormone, calcitonin, bicarbonate, calcium, phosphorus, magnesium, sodium, chlorine, potassium, and urinary measurements of phosphorus, magnesium, sodium, chlorine, potassium were normal for age. At 2 months of life, ultrasonography showed kidney calcifications. Clinical and laboratory data support the…
Cumulative live-birth rates per total number of embryos needed to reach newborn in consecutive in vitro fertilization (IVF) cycles: a new approach to…
2011
Objective To report the use of cumulative live-birth rates (CLBRs) per ovarian stimulation cycle to measure the success of IVF is proving to be the most accurate method for advising couples who failed to conceive, although the accuracy yielded is relatively low, and cycle outcome is highly dependent on the number of embryos replaced. Our aim with this work is to report the CLBRs of IVF as a function of the number of embryos required to reach a live birth (EmbR), considering age, day of ET, and infertility etiology. Design Survival curves and Kaplan-Meier methods to analyze CLBR in a retrospective cohort with respect to the number of EmbR. Setting University-affiliated infertility center. Pa…
CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders
2013
International audience; BACKGROUND:The high frequency of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene mutation p.Arg117His in patients with congenital bilateral absence of the vas deferens (CBAVD) and in newborns screened for CF has created a dilemma.METHODS:Phenotypic and genotypic data were retrospectively collected in 179 non-newborn French individuals carrying p.Arg117His and a second CFTR mutation referred for symptoms or family history, by all French molecular genetics laboratories, referring physicians, CF care centres and infertility clinics.RESULTS:97% of the patients had the intronic T7 normal variant in cis with p.Arg117His. 89% patients were male, wit…