1,720,979 research outputs found
10p12.1 deletion: HDR phenotype without DGS2 features.
No full textGATA3 gene encodes a transcription factor expressed during thymus, liver, kidney, adrenal gland, central and peripheral nervous systems, placenta and T lymphocytes embryonic development. Mutations of GATA3 cause Hypoparathyroidism, sensorineural Deafness and Renal dysplasia syndrome (HDR). We report the case of a girl with a terminal deletion of the short arm of chromosome 10 (10p12.1-pter), including both HDR locus and the DiGeorge critical region 2 (DGCR2), with HDR phenotype but not DiGeorge syndrome 2 features. The girl developed chronic renal failure during the first year of life, associated with sensorineural hearing loss, facial dysmorphic features and psychomotor development. She had hypodysplastic kidneys and bilateral grade 3-vesicoureteric reflux. Her karyotype was 46,XX,del(10)(p12.1-pter). Quantitative analysis by Real Time PCR on blood DNA confirmed the lack of one copy of GATA3 gene. She underwent renal transplantation at the age of 11. Our patient is the first case with a large deletion of the short arm of chromosome 10 - that certainly involves DGCR2 - with the HDR phenotype but without the clinical features of DGS2. This peculiarity suggests the hypothesis that the mechanisms underlying this syndrome may be more complex. It is therefore possible that DGS2 may be determined by locus heterogeneity
Approccio diagnostico al nato morto con anomalia. Studio prospettico di 102 nati.
No full textA prospective study of 102 consecutive perinatal deaths (84
still borns and 18 new borns who died a few minutes after birth)
was performed over a 3 -year period.
The diagnostic protocol entailed: three-generation pedigree; ex
ternal physical examination (100% of cases); autopsy (96 % );
chromosome an alysis (52%) ; full-body radio graphs (86%), and
photography for malformations.
Fetal anomalies were observed in 33 (including a pair of identical twins) of 102 subj ects (32%).
Analysis of the various procedures used in our study and in the
literature suggests that external physical examination, autopsy,
radiography, and chromosome analysis should be performed in
all cases of stil lbirth and early neonatal death. External physical
examination is an efficacious diagnostic tool which cannot be
substituted by other investigation. If technical difficulty exists,
karyotyping may be used selectively in macerated still births.
The importance of an attending coordinator, who formulates a
diagnostic conclusion and informes the family, is stressed
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
MUTATIONAL ANALYSIS AND EXPRESSION STUDY OF THE CHLORIDE CHANNEL 5 GENE (CLCN5) IN DENT’S DISEASE AND IN IDIOPATHIC FAMILIAL NEPHROLITHIASIS
No full textApparent CHARGE association and chromosomal anomaly: chance or contiguous gene syndrome.
No full textThis report concerns 2 unrelated patients with apparent CHARGE association and a chromosome abnormality, resulting from different unbalanced familial translocations involving chromosomes 2 and 18 in one family, and chromosomes 3 and 22 in the other. Although the identification of two different chromosome abnormalities might be due to chance, the observation of a long arm deletion of chromosome 22 in patients 2 and of the frequent coexistence of CHARGE association and DiGeorge anomaly raise the possibility of a contiguous gene syndrome in at least some CHARGE cases
Prevalence of anticentromere antibody in blood relatives of anticentromerepositive patients
No full textCaratterizzazione molecolare del gene del canale del cloro CLCN5 in pazienti con nefrolitiasi idiopatica: analisi di mutazione e studio di espressione
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