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Biomedical subjects

M Fowler

Publications and source records attributed to M Fowler.

At least 91 records · Page 5Linked to original sources
PubMed1983

Specific terminal DNA replication sequence of X chromosomes in different tissues of a live-born triploid infant.

Using the thymidine pulse method, DNA replication kinetics were studied on cells derived from cartilage, gonad, lymphocytes, and skin of a live-born triploid (69,XXY) infant with typical clinical findings. Replication studies showed that 3% of the lymphocytes had one early and one late replicating X, and 97% of the lymphocytes, and cartilage, gonad, and skin cells had two early replicating X's. Asynchronous DNA replication between the two early replicating X's was observed in all tissues (range 25-40%). The predominant terminal replication sequence of X chromosomes from chondrocytes, gonad, and skin fibroblast differed from that of the lymphocytes. Thus, a tissue-specific DNA replication pattern of the early-replicating X chromosome may be present. In every tissue, the last band to complete DNA replication was Xq21. Polymorphisms of metaphase chromosomes of parents and the patient were studied by Q-banding. The possible origin of the extra haploid set of chromosomes is discussed.

DNA Replication↗
PubMed1983

The Pena-Shokeir syndrome: report of five cases and further delineation of the syndrome.

We report on five cases of lethal Pena-Shokeir syndrome from three families with affected sibs. In addition to multiple anklyoses, camptodactyly, facial anomalies, and pulmonary hypoplasia, one fetus had pterygia of the neck and axillae and cardiac hypoplasia. Radiographic changes are nonspecific and probably are related to a lack of intrauterine movement. Our data and review of the literature suggest that pterygium formation is one of the manifestations of the Pena-Shokeir syndrome. A recently described lethal form of the recessively inherited multiple pterygium syndrome may represent a severe form of the Pena-Shokeir syndrome.

Abnormalities, Multiple↗
PubMed1981

Pityrosporum isolate from the upper respiratory tract.

A 49-year-old white man experienced maxillary sinus osteitis after removal of a portion of the maxilla containing root tips from a previous molar tooth extraction. After the patient had received long-term antibiotic therapy for that infection, a yeast-like organism was observed on smears from the patient's left nasal passage and its surgically enlarged communication with the maxillary sinus. The fungus has appeared on all subsequent smears, but early attempts to culture the organism were unsuccessful. A lipophilic yeast-like fungus, morphologically similar to the organisms seen on the direct smears and consistent with the genus Pityrosporum, was isolated in culture at this facility. Electron microscopy of the organism revealed cellular morphologic features believed to be unique to the Pityrosporum genus, thereby confirming the identity of the isolate as a member of that genus.

Cells, Cultured↗
PubMed1980

Short rib-polydactyly syndrome, Majewski type.

A term infant had dwarfism with characteristic skeletal and extraskeletal changes of the short rib-polydactyly syndrome type 2 (Majewski). The skeletal changes included extremely short horizontal ribs, extreme micromelia with disproportionately short ovoid tibiae, and pre- and post-axial polydactyly. Microscopically, cartilage showed markedly stunted and disorganized endochondral ossification. Extraskeletal manifestations were hydrops, cleft lip, malformed larynx with hypoplastic epiglottis, pulmonary hypoplasia, glomerular and renal tubular cysts, ambiguous genitalia, pachygyria and small cerebellar vermis. Parental consanguinity supports the hypothesis of autosomal recessive inheritance of the condition.

Abnormalities, Multiple↗
PubMed1980

A comparison of the sensitivities and specificities of different substrates for the fluorescent antinuclear antibody test.

Six different commercially available substrates for fluorescent antinuclear antibody (FANA) testing were compared with mouse liver, using a panel of well--characterized sera. Mouse liver sections and cultured HEP2 cells appeared to be most sensitive and specific. Although most substrates were acceptable, several were quite insensitive. These results underscore the importance of substrate performance in FANA testing.

Amnion↗
PubMed1980

Pyrogenic reactions after inadvertent infusion of endotoxin during cardiac catheterizations.

In April 1976 the attack rate of chills and fever with or without falls in blood pressure increased in association with cardiac catheterizations. Fevers were associated with coronary angiography and right and left heart catheterizations. Blood cultures were negative, and reactions did not correlate with amounts of contrast materials infused or with procedures done by a single operator. Significant numbers of Acinetobacter calcoaceticus (var. anitratus) and a Pseudomonas species were cultured from hospital-reservoir distilled water when it was flushed through a catheter before gas sterilization. This same water after ethylene oxide sterilization contained 2 x 10(5) ng/mL of endotoxin by limulus lysate test and was positive by rabbit pyrogen test. When washed reusable cardiac catheters were sterilized daily or when disposable catheters were substituted, febrile reactions ended. Pyrogenic reactions in patients undergoing cardiac catheterizations correlated with emptying retained endotoxin with injected contrast material from reused washed-sterilized catheters.

Acinetobacter↗
PubMed1979

Wegener granulomatosis. Unusual cause of necrotizing urethritis.

We report a case of Wegener granulomatosis presenting as a destructive urethral mass. The initial clinical impression was carcinoma, and a urinary diverting procedure was considered before the correct diagnosis was established. The importance of recognizing this unusual disease and its dramatic response to appropriate therapy are emphasized.

Cyclophosphamide↗
PubMed1979

Identification of specific antibodies to extractable nuclear antigens by passive immunodiffusion.

Extractable nuclear antigens have been identified in a number of systemic rheumatic diseases and may be useful in differentiating those with overlapping clinical features. A number of detection systems have been described but technical feasibility and sensitivity have limited widespread application. We describe a simple immunodiffusion method to identify extractable nuclear antigens with high specificity and sensitivity that compares favorably with parallel hemagglutination studies. This method can be applied easily to routine analysis of antinuclear antigens.

Antibodies, Antinuclear↗
PubMed1979

Carcinosarcoma of the prostate: report of a case with ultrastructural observations.

A carcinosarcoma of the prostate was examined by light and electron microscopy. The epithelial component was comprised of adenosquamous carcinoma. The stromal component demonstrated osseous and cartilaginous differentiation, and appeared mesenchymal by fine structure analysis. Despite aggressive therapy the patient died with disseminated disease 5 months after diagnosis.

Aged↗