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Biomedical subjects

M Granat

Publications and source records attributed to M Granat.

17 recordsLinked to original sources
PubMed1992

Prenatal diagnosis of familial hypercholesterolemia caused by the "Lebanese" mutation at the low density lipoprotein receptor locus.

Here, we report the prenatal diagnosis of familial hypercholesterolemia in a Christian-Arab family that carries the "Lebanese" mutation, a single base substitution that creates a HinfI restriction site, at the low density lipoprotein (LDL) receptor locus. Polymerase chain reaction amplification and restriction analysis were performed on genomic DNA extracted from a chorionic villus sample. In conjunction with karyotype analysis, the fetus was identified as a heterozygous female. Analysis of LDL receptor restriction fragment length polymorphisms confirmed the presence of a male parent marker and revealed that the fetus inherited the mutant gene from its mother. This technique offers a simple and rapid diagnostic tool that can be carried out at an early stage of gestation. It is recommended for families and population groups with molecularly defined LDL receptor mutations.

Base Sequence↗
PubMed1979

Short-term cycles in human fetal activity. I. Normal pregnancies.

Recordings of fetal motor activity in utero were carried out on 17 women with normal pregnancies at 23 to 37 weeks' gestation. Fetal motility was monitored by a method based on integrative EMG recordings derived through electrodes attached to maternal abdominal surface. Orthogonal spectral analysis revealed 40 minute and 80 minute cycles in fetal motility in 59% of the fetuses. The correlation between objective and subjective (maternal self-assessment) scores of fetal activity was generally confirmed. Methods of monitoring fetal activity, based on short-term recordings, are criticized in the light of the present results.

Adolescent↗
PubMed1979

Familial infantile scoliosis associated with bilateral paralysis of conjugate gaze.

A family with two sibs suffering from idiopathic infantile scoliosis associated with bilateral paralysis of conjugate gaze is reported. Although the parental consanguinity and the involvement of patients of both sexes in this family are suggestive of an autosomal recessive mode of inheritance, a dominant or multifactorial pattern remains a possibility.

Child, Preschool↗
PubMed1979

Glucose intolerance during pregnancy. I. A reappraisal of alleged screening criteria.

This study was designed to examine various risk factors in regard to their correlation with carbohydrate intolerance and in relation to birthweight and well-being of the newborn. Of the various alleged prediabetic stigmata among a selected group of 390 women, only marked maternal overweight, diabetes in previous pregnancy, family history of diabetes at the sibling level, and accompanying maternal morbidity were associated with increased risk for both gestational carbohydrate intolerance and for morbidity in the newborn. In women over 30 years of age a definite increase in the incidence of carbohydrate intolerance was noted among this high-risk population. Multiplicity of screening criteria presented a significantly (P less than 0.001) greater risk for the development of carbohydrate intolerance and was seen to be positively (P less than 0.001) with increased perinatal morbidity.

Adult↗
PubMed1979

Glucose intolerance during pregnancy. II. A comparative study of diagnostic screening methods.

The present study was designed to compare the relative validity of the 2-hour postprandial glucose test (2hpp) and the rapid intravenous glucose tolerance test (IVGTT) as predictors of the outcome of pregnancy. Both tests were performed at the onset of the third trimester of pregnancy in each of 77 women who constituted a selected group of patients considered to be at high risk of developing gestational diabetes. Data concerning newborns were recorded in each case. The IVGTT was found to give a significantly larger yield of positive results (44.15%) as compared to the 2hpp test (35.06%). Furthermore, significantly heavier babies and higher rates of perinatal morbidity were noted in those cases with abnormal IVGTT results as compared to those with normal values. No such association was seen in those cases with abnormal values of 2hpp. These results suggest that the rapid IVGTT is a more dependable test than a single postprandial blood glucose estimation in screening pregnant women for gestational diabetes.

Adult↗
PubMed1977

Further investigation on the predictive value of human placental lactogen in high-risk pregnancies.

Blood samples were taken from 254 women with pregnancies with various complications and 119 completely normal pregnant women for measurement of serum human placental lactogen (hPL) during the third trimester. The value of this test in the management of these pregnancies was retrospectively evaluated through details of outcome. Serum hPL and urinary estriol were compared as tools for assessment of fetal condition. Serum hPL was found to be very efficient in the prenatal diagnosis of intrauterine growth retardation associated with maternal hypertension. Low hPL levels were recorded in all severely hypertensive patients who were delivered of small-for-dates infants (a 100 per cent prediction rate), while 30 per cent of these patients had normal estriol values. Prediction rate of postmature infants by serum hPL level was 70 per cent as compared to 50 per cent by urinary estriol level. The diagnostic significance of low hPL levels is emphasized, with stress upon its value in early detection of unfavorable intrauterine environment. The importance of preterm deliveries in pregnancies involving intrauterine growth retardation and low hPL levels is discussed and demonstration cases are presented.

Adult↗
PubMed1976

Lecithin/sphingomyelin ratio versus rapid surfactant test in normal and diabetic pregnancies.

Lecithin/sphingomyelin (L/S) ratio was measured and rapid surfactant test (RST) was performed on amniotic fluid samples drawn from 60 normal and 18 diabetic pregnancies, for determination of fetal lung maturity. The results were compared to the neonatal outcome. Comparison of L/S ratio and RST demonstrates a good correlation (95%) between the two tests in normal pregnancies. In diabetic pregnancies, however, correlation is notably lower (54%). Respiratory distress syndrome (RDS) was predicted in both L/S ratio and RST in 35-40% of normal pregnancies, with 60-65% of false negative results. In diabetic pregnancies the L/S ratio was as reliable as in normal pregnancies, but the RST was less reliable, with an RDS prediction rate of 18%. The assumption is made that increased amniotic fluid volume in diabetic pregnancies, results in dilution of the surfactant giving more false negative results in RST than are seen with L/S ratio, as in the latter, by measuring the ratio between the two constituents of amniotic fluid, the dilution factor is abolished. In diabetic pregnancies, a positive RST is reliable, but with negative results, L/S ratio must be determined for correct assessment of fetal lung maturity.

Adult↗
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

The use of functional electrical stimulation to assist gait in patients with incomplete spinal cord injury.

The use of FES (functional electrical stimulation) for gait reproduction in six patients with spinal cord injury is described. Following a detailed neuromuscular assessment the patients commenced a muscle conditioning programme using electrical stimulation applied via surface electrodes. Once patients were strong enough to stand, gait synthesis was initiated in the laboratory utilizing a programmable electrical stimulator. When a satisfactory gait pattern had been achieved, patients used their portable stimulator at home. All six patients became able to stand and walk using the FES system and completed the home phase of the programme. Three patients continue to use the system at home for exercise and walking; the other patients have discontinued using the system, preferring a wheelchair or their original orthoses. We conclude that FES-assisted walking is feasible in patients with incomplete spinal cord injury, even with severe motor loss. Further advances in technology are needed for the system to become applicable to a larger number of patients.

Adolescent↗