Search results for "Infant"
showing 10 items of 3339 documents
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy
1999
Muscle contraction results from the force generated between the thin filament protein actin and the thick filament protein myosin, which causes the thick and thin muscle filaments to slide past each other. There are skeletal muscle, cardiac muscle, smooth muscle and non-muscle isoforms of both actin and myosin. Inherited diseases in humans have been associated with defects in cardiac actin (dilated cardiomyopathy and hypertrophic cardiomyopathy), cardiac myosin (hypertrophic cardiomyopathy) and non-muscle myosin (deafness). Here we report that mutations in the human skeletal muscle alpha-actin gene (ACTA1) are associated with two different muscle diseases, 'congenital myopathy with excess o…
Multiple pregnancies and air pollution in moderately polluted cities: Is there an association between air pollution and fetal growth?
2018
Background: Multiple pregnancies (where more than one fetus develops simultaneously in the womb) are systematically excluded from studies of the impact of air pollution on pregnancy outcomes. This study aims to analyze, in a population of multiple pregnancies, the relationship between fetal growth restriction (FGR), small for gestational age (SGA) and exposure to air pollution in moderately polluted cities. Methods: All women with multiple pregnancies living in the city of Besançon or in the urban area of Dijon and who delivered at a university hospital between 2005 and 2009 were included. FGR and SGA were obtained from medical records. Outdoor residential nitrogen dioxide (NO2) exposure wa…
Twins born after transplantation of ovarian cortical tissue and oocyte vitrification
2009
Objective To present a combination of ovarian tissue and oocyte cryopreservation as an effective strategy for achieving pregnancy in a breast cancer patient. Design Case report. Setting Tertiary care university-affiliated hospital, tissue bank, and infertility clinic. Patient(s) A 36-year-old patient diagnosed with atypical medullar breast cancer and negative for estrogen, P, and HER2 receptors underwent ovarian tissue cryopreservation before receiving chemotherapy and radiotherapy. Intervention(s) Laparoscopic ovarian cortex extraction, ovarian tissue cryopreservation, ovarian tissue thawing and transplantation, controlled ovarian stimulation (COS), oocyte retrieval, vitrification and IVF,…
Factors influencing place of death in Germany.
2011
Abstract Context Knowledge about factors influencing the place of death may be very useful for the planning of public health strategies to improve the situation of terminally ill patients. Objectives The aim of our study was to determine where people died in the German federal state of Rhineland-Palatinate in 2008. We further wanted to detect which factors had an influence on the place of death. Methods Our cross-sectional survey was based on a random sample of 5000 inhabitants of Rhineland-Palatinate who had died between May 25, 2008 and August 24, 2008. Relatives of these randomly drawn deceased persons were interviewed by means of a written survey. Results After removing duplicates, 4967…
Ultrasonographical aspects of urinary schistosomiasis: Assessment of morphological lesions in the upper and lower urinary tract
1986
Ultrasonographic evaluation of 213 patients with urinary schistosomiasis in different age groups was performed in an endemic area of the Democratic Republic of Congo. The results were compared with 94 age matched controls without urinary schistosomiasis. In patients the bladder showed thickening of the wall, polypoid lesions of the mucosa and bladder wall, calcifications and urinary retention. Urinary tract obstruction, predominantly unilateral, was demonstrated. The lesions increased in severity with the intensity of infection, parallel to an increase in ova excretion. Children aged between 8 and 19 years were most severely affected. Pathological lesions of the upper urinary tract were rar…
MRS SHOWS ABNORMALITIES BEFORE SYMPTOMS IN FAMILIAL ALZHEIMER DISEASE
2006
Background: Pathologic change in Alzheimer disease (AD) begins some years before symptoms. MRS has the potential to detect metabolic abnormalities reflecting this early pathologic change. Presenilin 1 (PS1) and amyloid precursor protein (APP) mutation carriers have a nearly 100% risk of developing AD and may be studied prior to symptom onset. Methods: Short echo time proton MR spectra were acquired from a midline posterior cingulate voxel in presymptomatic carriers of PS1 or APP mutations (“presymptomatic mutation carriers” [PMCs]; n = 7) and age- and sex-matched control subjects (n = 6). Ratios of N-acetyl aspartate (NAA), myo-inositol (MI), and choline-containing compounds (Cho) to creati…
Anti-actin antibodies in celiac disease: correlation with intestinal mucosa damage and comparison of ELISA with the immunofluorescence assay.
2005
The presence in the sera of celiac disease (CD) patients of anti-actin autoantibodies (AAAs) has been suggested as a marker of severe intestinal villus atrophy (1). AAAs have been detected with an immunofluorescence (IF) technique and seem to contribute to villus cytoskeleton damage and to the pathogenesis of intestinal damage in CD (2). The aims of the present study were to evaluate the relationship between the presence of serum IgA AAAs and severity of intestinal mucosa damage in CD patients and to compare the IF assay with a new ELISA for IgA AAA determination. We enrolled 150 individuals in the study. IgA AAAs were assayed in 58 consecutive CD patients diagnosed between January and Dece…
Antiendomysium antibodies assay in the culture medium of intestinal mucosa: an accurate method for celiac disease diagnosis
2011
Background Celiac disease (CD) diagnosis is becoming more difficult as patients with no intestinal histology lesions may also be suffering from CD. Aim To evaluate the diagnostic accuracy of antiendomysium (EmA) assay in the culture medium of intestinal biopsies for CD diagnosis. Patients and methods The clinical charts of 418 patients with CD and 705 non-CD controls who had all undergone EmA assay in the culture medium were reviewed. Results EmA assay in the culture medium had a higher sensitivity (98 vs. 80%) and specificity (99 vs. 95%) than serum EmA/antibodies to tissue transglutaminase (anti-tTG) assay. All patients with CD who were tested as false-negatives for serum EmA and/or anti-…
Immunolocalization of Tenascin-C in Human Type II Fiber Atrophy
2000
Tenascin-C is a multifunctional extracellular matrix glycoprotein with stimulatory and anti-adhesive or inhibitory properties for axon growth. Its location and discontinuous expression are restricted in innervated muscle tissues. Tenascin-C accumulated interstitially among human denervated muscle fibers and close to normal-sized fibers. To expand our knowledge of the expression of tenascin-C in human neuromuscular disorders, we investigated immunohistologically 20 human muscle specimens with type II myofiber atrophy of children and adults. Tenascin-C immunoreactivity in adult type II atrophy was frequent, and accumulation in children was sparse and weak. In both groups, tenascin-C immunorea…
SEARCH international case-control study of childhood brain tumours: role of index pregnancy and birth, and mother's reproductive history.
1999
A series of co-ordinated population-based case-control studies of childhood brain tumours (CBT) was undertaken under the auspices of the Surveillance of Environmental Aspects Related to Cancer in Humans (SEARCH) programme of the International Agency for Research on Cancer (IARC) to evaluate, inter alia, the risk in relation to characteristics of the index pregnancy and birth, and maternal reproductive history. Subjects comprised 1218 cases aged 0-19 years and 2223 controls. Risk estimates were calculated by unconditional logistic regression, adjusted for age, sex, centre and mother's years of schooling, for all types of CBT combined as well as for four groups defined by histopathology (astr…