Search results for "WB"
showing 10 items of 1688 documents
Microdeletion 22q11 in complex cardiovascular malformations.
1997
Besides DiGeorge, velocardiofacial and conotruncal anomaly face syndromes, some of the isolated congenital heart diseases have also been associated with a chromosomal deletion in 22q11. These disease entities, which had originally been considered to have a different genetic background, are now included in the CATCH-22 microdeletion complex. CATCH 22 is an acronym for cardiac defect, abnormal facies, thymic hypoplasia or aplasia and T-cell deficiency, cleft palate, hypoparathyroidism, and hypocalcemia. In the present study, we focused on the complex cardiovascular defects (CCVD) and screened 40 patients for a microdeletion of 22q11 by fluorescence in situ hybridization using the D22S75 DNA p…
Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes
2020
PRDM16 (positive regulatory domain 16) is localized in the critical region for cardiomyopathy in patients with deletions of chromosome 1p36, as defined by Gajecka et al., American Journal of Medical Genetics, 2010, 152A, 3074-3083, and encodes a zinc finger transcription factor. We present the first fetal case of left ventricular non-compaction (LVNC) with a PRDM16 variant. The third-trimester obstetric ultrasound revealed a hydropic fetus with hydramnios and expanded hypokinetic heart. After termination of pregnancy, foetopathology showed a eutrophic fetus with isolated cardiomegaly. Endocardial fibroelastosis was associated with non-compaction of the myocardium of the left ventricle. Exom…
Predictability of early atopy by cord blood-IgE and parental history.
1997
Summary Background Atopic family history and cord blood IgE have been used as predictors of atopic disease in newborns for about 20 years, but at least for cord blood IgE the sensitivity has been shown to be very low. The objective of this paper was to evaluate whether parental history and cord blood-IgE were more accurate predictors for the appropriate atopic phenotypes in the infants rather than for any atopy. Methods A total of 1314 newborn infants was recruited in six German obstetric departments in 1990 and followed-up for 2 years. Four hundred and ninty-ninc (38%) were at high risk for atopy with at least two first degree atopic family members and/or elevated cord-blood IgE concentrat…
Sensitization to Horse Allergens in Italy: A Multicentre Study in Urban Atopic Subjects without Occupational Exposure.
2010
<i>Background:</i> Horses play a significant role in people’s leisure time in Italy and other countries, but few data are available on IgE-mediated sensitization to horse allergens in patients without occupational exposure. We assessed, in a multicentric survey, the prevalence of horse sensitization in atopic subjects and its clinical characteristics. <i>Methods:</i> Allergists from the whole Italian territory were required to collect the results of skin prick tests from at least 100 consecutive subjects. Those patients with a positive skin test to horse dander underwent a detailed interview concerning clinical history, pet ownership and possible exposure. <i>R…
Cumulative newborn rates increase with the total number of transferred embryos according to an analysis of 15,792 ovum donation cycles
2011
Objective To measure the success of in vitro fertilization (IVF) of donated ova according to cumulative newborn rates (CNBR) per number of embryos required to achieve at least one newborn (EmbR), considering in addition the relevance of age and infertility etiology. Design Survival curves and Kaplan-Meier methods were employed to analyze CNBR with respect to the number of EmbR in a retrospective cohort of oocyte donation recipients. Setting University-affiliated infertility center. Patient(s) Infertile couples undergoing IVF with oocyte donation. Intervention(s) None. Main Outcome Measure(s) CNBR per EmbR. Result(s) The CNBR increased radically (up to 64.8%) between 1 and 5 EmbR, moderately…
How angioarchitecture of cerebral arteriovenous malformations should influence the therapeutic considerations.
1995
PURPOSE To evaluate the angioarchitectural criteria of complex cerebral arteriovenous malformations (AVMs), concerning the risk of hemorrhage and therapy planing. METHODS The magnetic resonance (MR) imaging and neuroangiographic findings of 227 AVMs (223 patients) were retrospectively evaluated. Statistical analysis was used to define the relative frequency of these lesions for hemorrhage in correlation with various parameters (i.e. age of the patient, size, location, associated aneurysms). RESULTS Onset of symptoms was between 21 and 40 years of age in 50% of cases. The ratio of centrally to convexially located lesions was 1:2. Convexial AVMs are classified by MR imaging into sulcal and gy…
Anti-SARS-CoV-2 IgA and IgG in human milk after vaccination is dependent on vaccine type and previous SARS-CoV-2 exposure: a longitudinal study
2022
Breast milk is a vehicle to transfer protective antibodies from the lactating mother to the neonate. After SARS-CoV-2 infection, virus-specific IgA and IgG have been identified in breast milk, however, there are limited data on the impact of different COVID-19 vaccine types in lactating women. This study is aimed to evaluate the time course of induction of SARS-CoV-2-specific IgA and IgG in breast milk after vaccination.
Effects of a short video feedback intervention on enhancing maternal sensitivity and infant development in low-income families
2019
This study evaluated the effects of a short video feedback intervention aimed at enhancing maternal sensitivity and the development of infants from low-income families in a randomized controlled trial. Forty-four mother-infant dyads living in low-income communities from Salvador, Brazil were randomly assigned between intervention and control groups. Maternal sensitivity was assessed during free-play and infant development was evaluated with a standardized scale. Intervention took place in eight home visits between the infant's third and tenth month. Results showed mothers in the intervention group interpreted the meaning of their infants' behavior more often (r = 0.33), asked babies more qu…
Bilateral cystic pulmonary glial heterotopia and palatinal teratoma causing respiratory distress in an infant
2009
We report on a male infant with extensive, bilateral cystic and solid lung lesions who presented postnatally with respiratory distress caused by bilateral cystic lung lesions. Parenchyma-sparing resections were performed. Histology revealed the presence of neuroglial cell-lined cysts and glial nodules. In addition, a neural element containing palatinal teratoma was detected and excised. Based on previously published cases, the pathogenesis and clinical features of pulmonary neuroglial heterotopia are discussed.
A Community in Life and Death: The Late Neolithic Megalithic Tomb at Alto de Reinoso (Burgos, Spain)
2016
The analysis of the human remains from the megalithic tomb at Alto de Reinoso represents the widest integrative study of a Neolithic collective burial in Spain. Combining archaeology, osteology, molecular genetics and stable isotope analysis (87Sr/86Sr, δ15N, δ13C) it provides a wealth of information on the minimum number of individuals, age, sex, body height, pathologies, mitochondrial DNA profiles, kinship relations, mobility, and diet. The grave was in use for approximately one hundred years around 3700 cal BC, thus dating from the Late Neolithic of the Iberian chronology. At the bottom of the collective tomb, six complete and six partial skeletons lay in anatomically correct positions. …