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Biomedical subjects

R E Falk

Publications and source records attributed to R E Falk.

At least 19 recordsLinked to original sources
PubMed1992

New skeletal dysplasia with unique brachydactyly.

We report on 2 male propositi, their mothers, and a maternal aunt with a new skeletal dysplasia associated with a unique pattern of digital malformation, variable mild short stature, and mild bowleg with proximal overgrowth of the fibula. The digital malformations comprise a pattern of brachydactyly which includes short, abducted thumbs, short index fingers, and markedly short, abducted great toes. The radiographic findings include hypoplastic thumbs and great toes with short first metacarpals and first metatarsals, absent distal phalanges of the index fingers and second toes, and coalescence of the carpal and tarsal bones. Radiographs of the long bones show mild metaphyseal and epiphyseal irregularity, tibial spurs, and relative elongation of the fibulae. The males are very similarly affected whereas the females show phenotypic variation and are generally less severely affected. The family histories from 2 fairly extensive pedigrees suggest X-linked dominant inheritance.

Adolescent↗
PubMed1992

De Barsy syndrome: report of a case, literature review, and elastin gene expression studies of the skin.

Several "progeroid" syndromes have now been identified. The De Barsy syndrome is an autosomal recessive syndrome of dwarfism, mental deficiency, an "aged" appearance at birth, abnormal elastic fibers on skin biopsy, and lax skin, large helices, eye abnormalities, lax joints, hypotonia, and athetoid posturing. We report one case and review 11 cases from the literature. To understand the abnormal appearance of the elastic fibers on biopsy, we performed elastin gene expression studies on fibroblasts cultured from our patient's skin. Molecular hybridization studies revealed reduced elastin mRNA steady-state levels as compared with age matched control individuals. Assuming normal rates of mRNA translation, reduced elastin synthesis would occur. Diminished dermal elastin content could explain the altered cutaneous elasticity, decreased elastic fibers in the skin, and many clinical manifestations of individuals with this condition.

Child, Preschool↗
PubMed1992

Screening for Down syndrome with the femur length/biparietal diameter ratio: a new twist of the data.

OBJECTIVE: The purpose of this study was to determine the value of discordant morphometric measurements as identifiers of Down syndrome by evaluating the relationship of biparietal diameter, femur length, biparietal diameter/femur length ratio, and cephalic index between a group of fetuses with trisomy 21 and a control population. STUDY DESIGN: Biometric measurements from 48 fetuses with trisomy were reviewed and compared with 107 normal fetuses of similar gestational age. Data were analyzed in 2-week gestational age intervals to determine the effect of gestational age on ultrasonographic detection of Down syndrome. Outcome measures were subject to least-squares linear regression and the t test for analysis. RESULTS: A positive relationship between abnormal morphometric measurements and fetuses with Down syndrome was detected but only during specific weeks of pregnancy. CONCLUSION: Although it appears that biometric measurements may be useful for Down syndrome, further study is needed before its widespread introduction into clinical practice.

Down Syndrome↗
PubMed1979

Modulation of the immune response and control of tumour spread by a new synthetic compound.

A small molecular weight biofunctional polymer, NED 137, has been investigated for its anti-neoplastic effect. Through its effect on the immune system, particularly the induction of B cell differentiation to antibody producing cells, this synthetic compound can retard tumour growth and prevent the development of distant metastases. Reactivity to tumour developed following administration of the NED 137. No toxicity has been observed. The polymer NED 137 is now being tested in phase I and phase II clinical trials.

Adjuvants, Immunologic↗
PubMed1978

Effective antitumor immunity following elimination of suppressor T cell function.

An increased resistance to a transplantable tumor was demonstrable in Fischer (F344) strain rats after thymectomy and high doses of total body irradiation, followed by bone marrow cell repopulation if the animals were allowed to recover for 6 to 8 weeks. Further experiments demonstrated that removal of a subpopulation of T cells by lower doses of radiation plus thymectomy could (1) reduce recurrences after surgical excision, and (2) prolong survival of animals with established pulmonary metastases. It was found that thymectomy + 50 leads to 100 R total body irradiation could eliminate a T cell-mediated suppression of effective antitumor immunity. The removal of the suppressor cell component by lower doses of irradiation was dependent on pre-exposure of the animals to tumor antigen. These experiments indicate the specificity of suppressor T cells to tumor antigen and their exquisite sensitivity to radiation in appropriate circumstances.

Animals↗
PubMed1977

Combined treatment with BCG and chemotherapy for metastatic gastrointestinal cancer.

The survival of patients who have cancers of the gastrointestinal tract is poor even after surgical resection of all gross disease. In an initial consecutive series of patients with metastatic or recurrent cancers, an attempt to improve survival with combined nonspecific immunostimulation by the intraperitoneal administration of BCG followed by oral BCG cycled with chemotherapy was studied. The results suggested that a population of patients with gastric and colonic cancers showed improved survival with this treatment. A randomized trial of combined chemoimmunotherapy versus chemotherapy alone was begun on November 1, 1974, for all cancers of the stomach and pancreas and all colorectal cancers beyond stage C by Dukes' classification. The initial results with patients entered by December 31, 1975, and followed until March 1, 1976, are reported.

BCG Vaccine↗
PubMed1977

Conversion of incomplete antibodies to direct agglutinins by mild reduction: evidence for segmental flexibility within the Fc fragment of immunoglobulin G.

Reduction of interchain disulfide bonds converted some IgG incomplete antibodies to direct hemagglutinins. This conversion occurred whether antibody was free in solution or bound to the red-cell surface. Reduced antibody permitted to reoxidize in air no longer behaved as a direct agglutinin; reversion to an incomplete antibody did not occur when reoxidation was prevented by S-alkylation. These results suggest that mild reduction of the antibody imparts sufficient freedom to permit bridging between cells and are interpreted as evidence that the interheavy-chain disulfide bonds restrict segmental flexibility within the Fc fragment of IgG.

Binding Sites↗
PubMed1977

Adjuvant immunostimulation in malignant melanoma with oral Bacille Calmette-Guérin.

Results of the administration of oral bacille Calmette-Guérin (BCG) as an adjunct to standard treatment in 62 patients with malignant melanoma indicate that this drug is of value in preventing distant spread of the disease when it is limited to one region and in its early stages. BCG increases survival in patients with visceral metastases. In those in whom these metastases are surgically resectable, it inhibits the development of further metastases. Oral BCG treatment does not affect the course of the disease in patients with massive hepatic or intracranial metastases.

Administration, Oral↗