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Biomedical subjects

R L Ladda

Publications and source records attributed to R L Ladda.

At least 55 records · Page 3Linked to original sources
PubMed1984

Cerebro-ocular dysplasia-muscular dystrophy (COD-MD) syndrome.

The Fukuyama form of congenital muscular dystrophy (FCMD), first described in Japan, is associated with distinct dysplastic cerebral malformations including agyria and micropolygyria of cerebral cortex, micropolygyria of cerebellum, and leptomeningeal gliomesodermal proliferations. We describe seven cases in four families from the United States with a syndrome similar to FCMD but with additional ophthalmic malformations. We believe that these cases represent a form of congenital muscular dystrophy different from FCMD and termed it cerebro-ocular dysplasia-muscular dystrophy (COD-MD) syndrome.

Abnormalities, Multiple↗
PubMed1984

Generalized epidermolytic hyperkeratosis in the child of a parent with nevus comedonicus.

Nevus comedonicus (NC) is rarely associated with the histopathologic changes of epidermolytic hyperkeratosis (EH). A parent with mild focal NC had a child with severe generalized EH. The histopathologic findings of skin biopsy specimens from parent and child showed the distinctive granular and spinous layer vacuoles and coarse keratohyaline granules of EH. This parent and child may be examples of the extremes in expression of an autosomal dominant trait.

Adult↗
PubMed1983

Detection of an Mr 200,000 glycoprotein in the culture medium of skin fibroblasts from patients with Huntington disease.

Huntington disease is a progressive neurological disorder with an autosomal dominant mode of inheritance. Using high resolution two-dimensional gel electrophoresis, we analyzed the intracellular and the released protein patterns of skin fibroblasts from HD patients and compared them to cells from apparently normal individuals matched for age and sex. No consistent differences were found in the pattern of total cellular proteins. In contrast, the culture medium from HD patients (12 of 19) contained an Mr 200,000 glycoprotein not found in twelve control cultures. The relation of this protein to the HD gene is unknown.

Electrophoresis, Polyacrylamide Gel↗
PubMed1983

Transforming growth factors released from Kirsten sarcoma virus transformed cells do not compete for epidermal growth factor membrane receptors.

Kirsten murine sarcoma virus (KiMSV)-transformed rat kidney cells (KNRK) release small polypeptides (Mr 12,500-15,300) into the culture medium that are capable of stimulating normal rat kidney cells (NRK) to form colonies in soft agar. The transforming growth factors (TGFs) did not compete with epidermal growth factor (EGF) for its receptor and did not induce specific phosphorylation of EGF receptor on NRK cell membranes. These properties differ from the TGFs isolated by other investigators. Our data further establish the heterogeneity of the materials produced by transformed cells that induce transformation-specific changes in normal cells.

Animals↗
PubMed1982

Prenatal diagnosis of Duchenne muscular dystrophy: failure of amniotic fluid and maternal serum N tau-methylhistidine analyses to detect affected fetuses.

N tau-Methylhistidine (MH) and creatinine levels were determined in amniotic fluid and maternal serum from 81 women undergoing midtrimester amniocentesis for reasons other than the diagnosis of neuromuscular disease. Samples were also examined in three pregnancies with male fetuses who were subsequently found to have Duchenne muscular dystrophy (DMD). Between 16 and 20 weeks' gestation, amniotic fluid and maternal serum MH levels averaged 3.22 and 1.94 mumoles/L, respectively. No significant differences were found between the control and affected fetuses for MH and creatinine levels or for MH/creatinine ratios from amniotic fluid or maternal serum. Determination of amniotic fluid MH level thus has no apparent value in the prenatal diagnosis of DMD.

Amniotic Fluid↗
PubMed1982

A human hepatoma cell line (PCL/PRF/5) produces lung metastases and secretes HBsAg in nude mice.

PLC/PRF/5 is a human liver cancer cell line which synthesizes hepatitis B virus surface antigen (HgsAB). These cells produced tumor in 6 of 8 (75%) congenitally athymic nude mice at 13 of 28 subcutaneous injection sites and in 13 of 14 (93%) mice inoculated intraperitoneally. Tumors were successfully transplanted to 4 of 6 additional nude mice. Tumor growth was rapid. Growth of cephalad tumors was significantly greater than for caudal tumors (0.39 mm/day versus 0.28 mm/day). Microscopic examination of tumors showed moderately well-differentiated hepatocellular carcinoma. Foci of identical cells were present in pulmonary veins in 7 of 14 tumor-bearing animals. Tumor cell karyotype was identical with that of PLC/PRF/5 cells. In addition, HBsAg was detectable in high titer in animals with extensive tumor. Biological features of PLC/PRF/5-induced tumors in nude mice appeared to closely resemble human hepatocellular carcinoma. Moreover, HBsAg may provide a marker of tumor growth.

Animals↗
PubMed1981

Hereditary multiple exostoses: report of a kindred.

In a large family with 37 members with multiple exostoses, only one person has developed sarcomatous degeneration of a lesion. Our review of published reports revealed great variation in the incidence of malignancy in multiple exostoses (10 to 25%). Most studies had sampling errors leading to the apparent overstatement of risk. In large pedigrees with essentially complete ascertainment of affected subjects, the risk of malignancy is nearer 3% or less. This lower risk for malignancy may be more appropriate in counselling affected subjects.

Adolescent↗
PubMed1980

Gonadal dysgenesis in a 46,XY female mosaic for double autosomal trisomies 8 and 21.

The proband was evaluated at 19 years of age because of primary amenorrhoea and, on chromosomal analysis, was found to have a 46,XY karyotype in 75% of her cells and 48,XY, +8, +21 in 25% of her cells. She appeared normal at birth and exhibited normal intellectual and physical development until puberty when secondary sexual differentiation failed. This young women showed none of the dysmorphic features associated with either trisomy 8 or trisomy 21. Her XY gonadal dysgenesis was manifested by late developmental problems of amenorrhoea, sexual infantilism, and gonadal neoplasia.

Adult↗
PubMed1980

Hereditary factors in sleepwalking and night terrors.

The families of 25 probands with sleepwalking and 27 probands with night terrors were studied. Eighty per cent of the sleepwalking pedigrees and 96 per cent of the night terror pedigrees included one or more individuals, other than the proband, who were affected by sleepwalking, night terrors, or both. Our data appear to fit a 'two threshold' multifactorial mode of inheritance. This finding supports the hypothesis that sleepwalking and night terrors share a common genetic predisposition, with sleepwalking being a more prevalent and less severe manifestation of the same substrate that underlies night terrors. Heritable factors predispose an individual to develop sleepwalking and/or night terrors, but expression of the trait may be influenced by environmental factors.

Female↗
PubMed1980

Chromosomal abnormalities associated with infertility.

From a population of 515 subfertile couples and 119 women with amenorrhea, 38 patients were karyotyped because of specific signs and symptoms suggestive of chromosomal abnormality. The indications for karyotyping included primary amenorrhea, secondary amenorrhea with gonadal failure before 35 years of age, stature of less than 147.5 cm, azoospermia with eunuchoidism, and personal or family history of more than 2 spontaneous abortions or more than 2 severely abnormal children. In addition, 19 patients from the same subfertile population were selected randomly for karyotyping to serve as controls. Using banding techniques, chromosomal abnormalities were found in 18 of the 38 specifically selected individuals, whereas no abnormality was found among those randomly selected. Three of the 18 patients had chromosomal abnormalities not previously described; their karyotypes were 46,XY/48,XY,+8,+21; 46,X,inv dup(Xq)/q26 leads to q21); and 46,XY,t(9;20)(q22;q12).

Abortion, Spontaneous↗
PubMed1979

Establishment and characterization of a new endometrial cancer cell line (SCRC-1).

A new human endometrial cell line, SCRC-1, has been established from a uterine adenocarcinoma. During a period of 57 weeks in culture, the SCRC-1 cells have been passaged over 100 times. Cultures have an epitheloid morphology, high mitotic activity, and a tendency to form multiple cell layers. The cells are polygonal and are arranged in pavement-like fashion. Most have multiple nucleoli, some are multinucleated, and all have heavily vacuolated cytoplasm. Pretreatment with iododeoxyuridine did not reveal viral markers by cocultivation or immunofluorescence techniques. Karyologic studies indicate that the SCRC11 cell line is essentially diploid with a small subpopulation of tetraploid cells. Over a period of 20 weeks, 1 of 14 athymic nude mice inoculated with SCRC-1 cells developed a tumor which histologically closely resembled the original human tumor. Cells were subsequently propagated from this tumor and the resulting epitheloid-like cell line was designated SCRC-1, Tu 1.

Adenocarcinoma↗
PubMed1979

Decrease in epidermal growth factor receptor levels and production of material enhancing epidermal growth factor binding accompany the temperature-dependent changes from normal to transformed phenotype.

Normal rat kidney (NRK) cells infected with a temperature-sensitive mutant of Kirsten sarcoma virus (Ts cells) exhibited normal monolayer morphology identical to that observed for uninfected cells (NRK cells) at the nonpermissive temperature, 39 degrees C, but grew as multilayered foci resembling NRK cells transformed by the wild-type virus (KNRK cells) at 32 degrees C, the permissive temperature. NRK cell division was stimulated by epidermal growth factor (EGF), and these cells showed high levels of EGF receptors, as determined by 125I-labeled EGF binding. KNRK cells were unresponsive to EGF and no EGF receptors were detectable. Ts cells also were unresponsive to EGF at both temperatures, but exhibited just detectable EGF binding at 32 degrees C and 10-15% of NRK cell binding at 39 degrees C. Use of EGF added to the culture medium by these cells paralleled the receptor levels. Crossfeeding experiments among NRK, KNRK, and Ts cultures indicated that Ts cells at the permissive temperature and KNRK cells at both temperatures produced a heat-stable substance(s) which stimulated DNA synthesis in NRK cells independent of the presence of serum or of EGF. Conditioned medium from the transformed cultures also significantly enhanced EGF binding to NRK cells. These studies demonstrated a correlation between the transformed phenotype and the receptor levels of a potent cell mitogen, EGF, which was readily reversible in the Ts cultures. In addition, cultures expressing the transformed phenotype produced material that did not compete for the EGF receptor but did enhance EGF binding, in contrast to other reports involving sarcoma virus-transformed cells.

Animals↗
PubMed1979

Quantitation of phosphatidylcholine secretion in lung slices and primary cultures of rat lung cells.

Rat lung slices and isolated rat lung cells were used to study the secretion of phosphatidylcholine by the lung in vitro. The rate of incorporation of [(3)H]choline by lung slices was 20-fold greater than by liver slices and 4-fold greater in lung cells compared to confluent skin fibroblasts. Labeling lung slices or cells with [(3)H]choline for up to 8 hr failed to reveal a significant amount of labeled phosphatidylcholine in the medium of either system compared to the medium from liver slice or fibroblast controls. Labeling of isolated lung cells for up to 24 hr, with or without 10% fetal calf serum, also showed no significant difference in the amount of labeled phosphatidylcholine in the medium compared to control fibroblast cultures. Washing labeled lung slices or cells with a nonlysing concentration of Triton X-100 (0.05%) did not selectively release labeled phosphatidylcholine, indicating that any secreted phosphatidylcholine did not adhere to the surface of the lung slices or cells. Experiments were performed to determine whether the small amount of phosphatidylcholine in the medium and detergent-released phosphatidylcholine was similar to the tissue and cell phosphatidylcholine. The saturated fatty acid composition of the phosphatidylcholine released by Triton X-100 and in the medium (from lung slices) was identical to that of the tissue phosphatidylcholine. In addition, the relative labeling rates of the phospholipids released by Triton X-100 and in the medium (labeled with [(14)C]glycerol) were identical to those of the tissue and cell phospholipids. Based on these results, we conclude that phosphatidylcholine is not secreted by lung slices and lung cells in large amounts compared to controls. The implication of these data is that pulmonary surfactant material may actually not be secreted by the lung in vitro, and perhaps in vivo, in the manner that is currently generally accepted.

Animals↗
PubMed1979

Properties of human epithelioid cells established in vitro by a herpesvirus [IBRV(HMC)] isolated from cytomegalovirus-transformed human cells.

Infectious bovine rhinotracheitis virus [IBRV(HMC)], a double-enveloped herpesvirus, was isolated from human embryo lung fibroblasts transformed by cytomegalovirus (CMV). This agent was identified as an IBRV strain that was antigenically related to human CMV. Inoculation of a primary human kidney cancer cell culture with IBRV(HMC) resulted in persistent infection and subsequent establishment of a cell line [IBRV(HMC)HKC-1]. Virus-related nuclear, cytoplasmic, and cell membrane antigens were detected in these cells in early in vitro passages by anticomplement and indirect immunofluorescence tests. Infectious virus was rescued from one of the cell sublines after temperature-shock treatment at passage 26. Karyotypic analysis confirmed the human origin of the cells. Control uninfected kidney cancer cells survived only six in vitro passages. The established cells grew to more than 100 in vitro passages 1 year after initiation of the experiments and induced an epithelioid cancer of variable morphology that infiltrated nerves and muscles when inoculated sc into athymic nude mice.

Adenocarcinoma↗