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Biomedical subjects

K L Garver

Publications and source records attributed to K L Garver.

At least 37 records · Page 2Linked to original sources
PubMed1985

Predicting in vitro tissue culture growth for cytogenetic evaluation of stillborn fetuses.

A prospective study was undertaken of 131 perinatal deaths to determine whether gestational age, body weight, maceration degree and autopsy interval influenced successful in vitro tissue culture for cytogenetic evaluation. Perinatal populations were categorized as neonatal death (NND), fresh stillbirth (FSB), or graded as macerated stillbirth (MAC-0, MAC-1, MAC-2, MAC-3). Metaphase production by at least 15 cells separated 'growth' from 'no growth' categories after sampling liver, kidney and spleen. Body weight and degree of maceration were predictive of successful 'growth', while gestational age and autopsy interval were not. Body weight was significant in separating 'growth' from 'no growth' in NND (P = 0.05), FSB, MAC-0 and MAC-1 (P = 0.01). Growth probabilities were 0.78 (NND), 0.57 (FSB), 0.49 (MAC-0), 0.38 (MAC-1) and zero for MAC-2 and MAC-3. We conclude that (a) tissues from MAC-2 and MAC-3 fetuses do not grow and thus need not be sampled at autopsy, (b) maceration degree and body weight can be used to predict the growth probability in the other categories, (c) tissue samples can be taken during daylight hours, since autopsy interval does not influence successful growth provided the fetus is refrigerated at 4 degrees C, (d) all of the above conclusions have cost-efficiency implications for cytogenetic laboratories.

Body Weight↗
PubMed1985

Hirschsprung disease: a genetic study.

This study examines the association of Hirschsprung disease with Down syndrome and calculates the recurrence risk for families of Hirschsprung patients. Information was collected from 134 histologically diagnosed patients with Hirschsprung disease, from Children's Hospital in Pittsburgh, PA between 1950 and 1977. One hundred and three patients had short segment Hirschsprung disease which is defined as involvement up to and including the sigmoid colon. Thirty-one patients had the long segment type with aganglionosis extending in some cases to the small intestine. As in other studies, we found a significant association between Hirschsprung disease and Down syndrome in that 5.9% of probands had both. Mean maternal age of cases with both Hirschsprung disease and Down syndrome (33.5 years) was significantly different from controls (26.7 years) and non-Down syndrome Hirschsprung patients (26.6 years). The overall sex ratio for Hirschsprung disease was 3.6. Recurrence risks were dependent on proband sex and the degree of aganglionic involvement.

Abnormalities, Multiple↗
PubMed1983

Etiology of recurrent pregnancy losses and outcome of subsequent pregnancies.

Prospective evaluation of 155 couples with two or more consecutive pregnancy losses disclosed uterine morphologic abnormalities in 27%, chromosomal abnormalities in 21 individuals (7.7%, or 15.4% of the couples), and at least one abnormal diagnostic test suggestive of a cause for recurrent pregnancy losses in 106 (68%). A positive test for antinuclear antibody was found in 7.5% of the women, whereas the expected rate in a population of this age is less than 2%. Cervical cultures for Ureaplasma urealyticum (T-strain mycoplasma) were positive in 48% of the women, and 28% of these women had a genetic or uterine abnormality to explain their pregnancy losses. Thyroid function profiles and cervical cultures for Mycoplasma hominis provided no significant information in the evaluation in these couples. With the exception of women with a positive antinuclear antibody, the overall prognosis for later pregnancies was quite good whether the diagnostic evaluation of the couple was normal (77% subsequent live births) or abnormal (71% subsequent live births). The significance of the positive antinuclear antibody in these women is unclear, but further studies and long-term evaluation are necessary to determine the relationship between recurrent pregnancy losses and later development of collagen-vascular diseases.

Abortion, Habitual↗
PubMed1981

Increased amnionic fluid alpha-fetoprotein due to a holoacardium amorphous twin.

Amnionic fluid alpha-fetoprotein measurement was employed as a screening test for neural tube defects in a pregnancy only at risk due to advanced maternal age. The alpha-fetoprotein concentration was elevated more than 10 standard deviations above the mean and was found to be caused by a holoacardium amorphous twin. A normal female fetus was also present. Various causes of elevated alpha-fetoprotein concentration in amnionic fluid are discussed.

Abnormalities, Severe Teratoid↗
PubMed1980

Origin of lactate dehydrogenase in amniotic fluid.

The origin of protein including enzymes in amniotic fluid is of clinical and research interest. 8 patients were evaluated, with their informed consent, prior to therapeutic abortion. Amniotic fluid, placentas and blood were obtained and lactate dehydrogenase (LDH) isozyme patterns of cell-free amniotic fluid was compared to the LDH patterns of uncultured amniotic fluid cells, maternal serum and RBC, placentas and placental membranes. The LDH isozyme pattern of amnion closely corresponded to that of cell-free amniotic fluid and represents the major source of this enzyme in amniotic fluid.

Adolescent↗
PubMed1979

Genetic counseling in primary obstetric care.

Of all health professionals the obstetrician is by far the best-equipped to integrate genetic counseling into health care delivery. As with most aspects of the practice of medicine, genetic information increases daily. The practicing obstetrician, by learning the fundamentals of genetics, can at least delineate at-risk situations. When a new situation arises he can either consult an up-to-date article or book 185--190 or refer the patient to the local genetic counseling clinic for further appraisal. By incorporating prospective counseling and in some cases retrospective counseling into his daily practice, the obstetrician can contribute greatly to the ideals of obstetrics, namely producing healthy children for his patients.

Age Factors↗
PubMed1977

Meiotic consequences of an intrachromosomal insertion of chromosome No 1: a family pedigree.

In three generations of the proband's patrilineal relatives, 14 subjects were found to be carriers of a "shift" insertional chromosome No. 1 (46XX or XY, ins(1)(p32q25q31)). The proband and three female relatives, who were mild to moderate mental retardates with minor congenital anomalies, were trisomic for the insertional segment, (1)q25q31. Another subject, who was a markedly immature female abortus with congenital abnormalities, was found to be monosomic for this same chromosomal segment. The cytogenetic evidence suggests that each of these unbalanced recombinant progeny was the result of a single crossing over in the noninsertional loop of a paternal pachytene bivalent of the balanced insertional chromosome No. 1.

Abnormalities, Multiple↗
PubMed1977

Amniocentesis.

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Amniocentesis↗
PubMed1976

Partial monosomy or trisomy resulting from crossing over within a rearranged chromosome 1.

Two sibs, both monosomic for the same portion of 1q (q25q32), had similar severe mental and physical retardation. An older sib was found to be trisomic for the same portion of 1q and less severely affected. These partially monosomic and partially trisomic No. 1 chromosomes resulted from meiotic crossover in the mother, who is a balanced heterozygote of the type 46,XX, ins (1) (p32q25q32).

Child, Preschool↗