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Biomedical subjects

H Dar

Publications and source records attributed to H Dar.

At least 19 recordsLinked to original sources
PubMed2004

Alpha-fetoprotein in the early neonatal period--a large study and review of the literature.

BACKGROUND: Alpha-fetoprotein (AFP) is a glycoprotein molecule, which has similarity to albumin and is produced by the fetal liver. Its biological role is unclear and factors that may influence its concentrations in neonates are only partially identified. However, it has an important role as a diagnostic marker, especially in certain tumors and liver diseases of childhood. Its normal reference values in newborns have not been well defined. METHODS: Serum AFP concentrations were measured and characterized in 260 term and near-term newborns [gestational age (GA)> or =34 weeks, birthweight (BW)> or =1700 g] at birth [umbilical cord (UC) blood] and upon discharge from the nursery at 60+/-24 h of life (venous sample). RESULTS: Due to the nonnormal distribution of AFP levels, it is useful to relate to reference interval for AFP concentrations at birth that was 15.7-146.5 microg/ml, based on 95% confidence interval (CI). The median value of 48.3 microg/ml is also a useful reference. However, mean AFP concentrations at birth that were 61.6+/-44.8 microg/ml are less informative due to the large standard deviation (S.D.). Upon discharge, AFP concentrations dropped to 9.7-111.9 microg/ml (95% CI) with a median of 34.2 microg/ml. A significant negative correlation was found between AFP serum levels and gestational age and to a lesser extent with birthweight. No significant differences were found between males and females. CONCLUSIONS: Normal reference intervals for AFP in term and near-term newborns have been defined, but need to be addressed with caution due to the wide range of normal values. AFP levels at birth decrease as gestation advances and the newborn weighs more.

Adult↗
PubMed1997

Inherited inverted duplication of X chromosome in a male: report of a patient and review of the literature.

Nineteen cases of duplication of segments of the long arm of chromosome X have been published in 13 males and in 6 females. We report an additional case of a male with growth and mental retardation, growth hormone deficiency, compensated primary hypothyroidism, distinctive anomalies of the face, hypoplastic genitalia, and hypotonia in whom inverted duplication of a segment in the long arm of X chromosome was diagnosed, 46,Y, dup (X)(q21.2q13.3), and mosaicism was demonstrated in his mother's X chromosome. The rearranged segment was diagnosed utilizing high resolution G-band technique and FISH studies, using chromosome X total chromosome probe and DNA XIST probe. This appears to be the first report of a patient with duplication of Xq and hypothyroidism.

Child, Preschool↗
PubMed1996

Interstitial deletion (6)q13q15.

We report on a 2-year-old child with psychomotor retardation, facial and urogenital anomalies. His chromosome constitution was 46,XY, del(6)(q13q15). This case further contributes to the karyotype-phenotype correlation of proximal deletion 6q syndromes.

Abnormalities, Multiple↗
PubMed1996

Maternal serum markers levels in consecutive pregnancies: a possible genetic predisposition to abnormal levels.

The study comprised 2,361 women, each with two consecutive normal uncomplicated pregnancies screened at 15-20 weeks gestation for maternal serum alpha-fetoprotein levels (AFP). In 1,816 of these women, maternal serum human chorionic gonadotropin (hCG) levels were tested as well. The proportion of women who had a second high AFP level (> or = 2.0 MOM) in their subsequent pregnancy was 6.5-fold higher as compared with the proportion of women who had normal levels of AFP in their first tested pregnancy. The relative chance of having a second positive result of a low level of AFP (AFP < or = 0.5 MOM) in subsequent pregnancies was 3.8-fold higher. The relative chances of having a second positive result of high or low levels of hCG were 3.9- and 2.2-fold higher, respectively. It is concluded that there is a predisposition for abnormal levels of serum markers that is influenced by genetic and/or environmental factors. Therefore it is suggested that the individual's risk of having a Down syndrome baby, or other adverse pregnancy outcome that is derived from the serum markers' levels, should be adjusted taking into account unexplained high or low levels in previous pregnancies. A screening policy is suggested which is designed to yield a lower false-positive rate without affecting the detection rate of abnormal pregnancies. More data are needed before an accurate adjustment based on previous results can be made.

Chorionic Gonadotropin↗
PubMed1995

New heritable fragile site with spontaneous expression at 1q41.

The report presents a family ascertained through recurrent spontaneous abortions in which a new heritable fragile site located at 1q41 is segregating. The fragile site is present in the mother and her son. It is expressed spontaneously in 100% of the metaphases from lymphocyte culture using standard conditions. The use of folate deficient medium and the addition of FUdR to the medium did not affect the appearance nor the level of expression of the fragile site.

Abortion, Habitual↗
PubMed1995

Amniocentesis rate and the detection of Down syndrome and other chromosomal anomalies in Israel.

We investigated the contribution of different screening criteria to the prenatal detection of Down syndrome (DS) as well as other chromosomal anomalies in the Jewish population in Israel during 1990 and 1992. There was a significant decrease (P < 0.03) in the incidence of DS live-births during 1992 (40:78 442) compared with 1990 (69:73 751) which paralleled a marked increase in total prenatal testing and in DS cases detected prenatally. Private laboratories, which perform amniocenteses mostly for women with a low risk of DS and without genetic counselling, had a significantly lower detection rate (1:917) compared with that of the genetic institutes, which following genetic counselling test both women > or = 37 years of age (1:91) and women younger than 37 years (1:113). The detection of chromosomal anomalies other than DS was less affected by the reason for amniocentesis. Amniocentesis indicated by maternal serum marker screening of women younger than 37 years identified a greater number of chromosomal anomalies other than DS than amniocentesis based on age (> or = 37 years) alone (111:9604 versus 94:9810; P < 0.06). Prenatal detection of DS is most effective when the indication for amniocentesis follows genetic counselling. The increasing use of maternal serum marker screening leads to a significant improvement in the positive detection rate of chromosomal anomalies other than DS in young women.

Adult↗
PubMed1995

The karyotype of fetuses with anomalies detected by second trimester ultrasonography.

OBJECTIVE: To determine the incidence of abnormal karyotype among fetuses with anomalies detected by detailed second trimester ultrasonography. STUDY DESIGN: A total of 573 patients underwent amniocentesis following the detection of anomalies by detailed second trimester ultrasonography. RESULTS: Thirty-six (6.3%) fetuses with abnormal karyotype were detected. The most common abnormal karyotypes were: trisomy 18, 11 cases; trisomy 21, 8 cases; 45XO, 7 cases; trisomy 13, 3 cases; and triploidy, 2 cases. Abnormal karyotype was detected in 20/111 (18%) fetuses with more than one anomaly, 15/182 (8.2%) with cystic hygroma, and 1/38 with nuchal thickening. No abnormal karyotype was detected among 108 fetuses with choroid plexus cyst, 58 with hydronephrosis, 25 with ventriculomegaly, 16 with a single umbilical artery, 18 with cardiac anomalies. CONCLUSIONS: (1) Half of the cases with abnormal karyotype occurred in fetuses with more than one anomaly. (2) Cystic hygroma was the isolated malformations most commonly associated with abnormal karyotype. (3) Isolated malformations such as choroid plexus cyst or hydronephrosis were not associated with abnormal karyotype.

Chromosome Aberrations↗
PubMed1994

Deletion of the short arm of chromosome 10 (10p13): report of a patient and review.

Since the first description by Elliot et al. [1970, Am J Dis Child 119:72-73] of a probable partial deletion of chromosome 10p, 17 other cases have been reported. The phenotypic expression is variable, but the craniofacial malformations constitute a more consistent finding. The 10p deletion syndrome has been associated with the DiGeorge anomaly in several patients. We report on an additional case of 10p deletion syndrome and review the literature.

Child, Preschool↗
PubMed1994

Prenatal testing for Down syndrome in the Jewish and non-Jewish populations in Israel.

The present work evaluated the efficacy of a prenatal diagnosis program in which amniocentesis and chorionic villus sampling were offered free of charge to all pregnant women in Israel aged > or = 37 years. The number of Down syndrome (DS) live births that occurred during the period of the program (1978-92) was correlated to the prevalence of old maternal age (> 35 years) and the utilization of prenatal test in the Jewish and non-Jewish populations in 1990 and 1992. It was noted that in the Jewish population, there was a slight increase in the DS live birth rate, from 1.05 in 1978, to 1.37 DS cases/1,000 live births in 1987, which corresponded to an increase in the prevalence of older pregnant women, from 8.0% in 1978 to 14.8% in 1987. Thereafter, however, there was a continuous decline, to 0.71 DS cases/1,000 live births in 1992, as a result of increased acceptance of prenatal testing by women > or = 37 years (67%) and, recently, also by younger women (from 5.6% in 1990 to 14% in 1992). In the non-Jewish population, there has been a very low acceptance rate of prenatal testing (23.3-16.1% in women > or = 37 years and 0.36-0.63% in women < 37 years). As a result, a very low prenatal detection rate (8-16% of all DS cases) and a high prevalence of DS live births (1.4 cases/1,000 live births) were observed. We suggest that a unique genetic counseling approach is required in the non-Jewish population to improve prenatal DS prevention in Israel.

Adult↗
PubMed1993

[Fanconi anemia syndrome as a predisposing factor for acquired bone marrow aplasia].

A 4-year old girl who received prophylactic therapy with oral cephalexin for 1 year because of a history of urinary tract infections, was referred for evaluation of short stature. On physical examination mildly dysmorphic features were observed. Blood counts disclosed pancytopenia, and bone marrow examination showed hypoplasia of all 3 cell lines. Chromosome analysis after exposure to a DNA cross-linking agent (diepoxybutane) showed a chromosomal breakage pattern consistent with Fanconi anemia. Discontinuation of cephalexin was followed by improvement in hematological values. This course of events supports the hypothesis that acquired bone marrow depression may be a manifestation of Fanconi anemia, warranting the appropriate diagnostic work up in every case of acquired bone marrow aplasia.

Bone Marrow Diseases↗
PubMed1992

New multiple congenital anomalies: mental retardation syndrome (MCA/MR) with facio-cutaneous-skeletal involvement.

Five unrelated patients (a male and 4 females) were affected with a previously undefined multiple congenital anomalies/mental retardation syndrome which has been designated the facio-cutaneous-skeletal (FCS) syndrome and which includes mental retardation with specific sociable, humorous behavior, characteristic facial appearance, excessive generalized skin, postnatal growth failure, and skeletal involvement. Consanguinity was noted in 2 patients, thus autosomal recessive inheritance is suggested.

Abnormalities, Multiple↗
PubMed1992

Neu-Laxova syndrome: prenatal ultrasonographic diagnosis, clinical and pathological studies, and new manifestations.

A diagnosis of the Neu-Laxova syndrome (NLS) was made by ultrasonography at 32 wks of gestation. Ultrasonographic examination showed intrauterine growth retardation (IUGR), Dandy-Walker anomaly, choroid plexus cysts, receding forehead and microcephaly, bilateral cataract without prominent eyes, scalp edema with no generalized edema, retrognathia, curved penis, and flexion deformities of limbs. The findings in this case are consistent with NLS; however, they did not fit any of Curry's [1982] groups. Massive swelling of hands and feet were among the main manifestations in classic NLS cases. In the case presented herein, edema was noted only in the scalp. This might shed further light on the question of variability vs. heterogeneity in the NLS. This case shows the existing possibility of an early diagnosis of NLS and adds Dandy-Walker anomaly and choroid plexus cysts as new findings to this syndrome.

Abnormalities, Multiple↗
PubMed1992

Sonographic indications for karyotyping procedures. An international questionnaire.

An international survey was conducted to investigate attitudes to karyotyping procedures in cases of fetal anomalies detected by ultrasound. A questionnaire was sent to 111 current members of the International Society of Ultrasound in Obstetrics and Gynecology. The overall response rate was 48%. Analysis of the replies reflects a wide variation in the criteria for the definition of a sonographic abnormality, the indication for a diagnostic procedure, and the timing for intervention. The results emphasize the need for additional data on several sonographic findings (e.g. choroid plexus cysts, renal pyelectasis, short limbs) and for improved selection of patients for chromosomal investigation.

Journal Article↗