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Biomedical subjects

H Dar

Publications and source records attributed to H Dar.

68 records · Page 4Linked to original sources
PubMedDate not supplied

46,XX gonadal dysgenesis associated with congenital nerve deafness.

A sporadic case of a woman presenting with the combination of pure 46,XX gonadal dysgenesis and congenital nerve deafness is reported. A similar association had been reported as a rare familial occurrence. The apparent heterogeneity of phenotypic characteristics among the previously reported individuals and the possible genetic implications are discussed.

Adolescent↗
PubMedDate not supplied

Can infantile hereditary agranulocytosis be diagnosed prenatally?

Fetoscopy and fetal blood sampling were performed in an attempt at prenatal monitoring of a pregnancy at risk for infantile hereditary agranulocytosis (Kostmann's disease). In smears of fetal blood three segmented neutrophils were found out of 200 nucleated cells (1 1/2 per cent). Their presence, although in a lower percentage than in six age-matched controls, was considered to indicate that the fetus was not affected. The newborn infant has developed normally and at the age of four months has a normal number of segmented neutrophils in his peripheral blood. Feasibility of prenatal diagnosis of infantile hereditary agranulocytosis is discussed.

Adult↗
PubMedDate not supplied

Chromosomal rearrangements in three infertile men.

Three chromosomal rearrangements: a balanced reciprocal translocation, t(14;10) (q22;q13), a Y-autosome translocation, t(Y;16) (q11;p13) and a deleted Y chromosome, Yq- were detected among 100 infertile men. The autosomal translocation, associated with oligozoospermia was found to be familial with various effects on the female carriers and the proband's father. The patients with the chromosome Y abberations were found to be azoospermic and might have lost the genes necessary for normal spermatogenesis.

Adult↗
PubMedDate not supplied

Very low maternal serum unconjugated estriol and prenatal diagnosis of steroid sulfatase deficiency.

Twenty-four women out of 7,875 pregnant women who enrolled in a prenatal screening program showed extremely low levels of unconjugated estriol (< 0.15 MOM). In 19 cases, intrauterine fetal death was reported. In 1 case anencephalus was detected. In the remaining 4 cases apparently normal healthy babies (1 female and 3 males) were born following uneventful pregnancies. Physical examination of the 3 boys at 4-6 weeks revealed mild ichthyosis compatible with the X-linked type. Two of them had a positive family history of X-linked ichthyosis. The examination of the girl did not reveal any significant findings. In both cases in which amniocentesis was performed, low levels of steroid sulfatase and arylsulfatase C were found. The prevalence of X-linked ichthyosis in this study is higher than previously reported, i.e. 1:1,300 males. Our results suggest that the prenatal screening program for neural tube defects and for Down's syndrome is useful for the prenatal detection of X-linked ichthyosis as well. These results are in accordance with two recent reports. The implications regarding genetic counseling are discussed.

Adult↗
PubMedDate not supplied

Unconjugated estriol as maternal serum marker for the detection of Down syndrome pregnancies.

The effectiveness of unconjugated estriol (uE3) as a serum marker for the detection of Down syndrome (DS) during the 2nd trimester of pregnancy was evaluated. A population of 18,764 normal singleton pregnancies was screened for alpha-feto-protein and human chorionic gonadotropin. In 9,311 women, uE3 was added. Using a risk of 1:250 at term as a cutoff value, the false-positive rates were 4.1 and 4.3% without and with uE3, respectively. The detection rates in 47 DS serum samples, some of which were studied retrospectively, were 66% without uE3 and 57% with uE3. In 12 of 25 younger women and in 19 of 22 older women, DS was detected without uE3. The uE3 contributed to the detection of 4 additional DS pregnancies (1 in the young and 3 in older women). On the other hand, 8 DS pregnancies (3 in younger women and 5 in older women) escaped detection. In our sample the addition of uE3 lowered the detection rate of DS pregnancies with only a small and insignificant effect on the false-positive rate. Our results call for special caution in the addition of markers for risk calculations. We suggest that pregnancies with a calculated risk of > 1:250 following maternal serum alpha-fetoprotein and human chorionic gonadotropin markers tests should be regarded as high-risk pregnancies, even in cases in whom the addition of uE3 lowers the risk beneath the cutoff value.

Adult↗