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Biomedical subjects

I A Priluck

Publications and source records attributed to I A Priluck.

At least 19 recordsLinked to original sources
PubMed1992

Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11.

Usher syndrome is the most commonly recognized cause of combined visual and hearing loss in technologically developed countries. There are several different types and all are inherited in an autosomal recessive manner. There may be as many as five different genes responsible for at least two closely related phenotypes. The nature of the gene defects is unknown, and positional cloning strategies are being employed to identify the genes. This is a report of the localization of one gene for Usher syndrome type I to chromosome 11q, probably distal to marker D11S527. Another USH1 gene had been previously localized to chromosome 14q, and this second localization establishes the existence of a new and independent locus for Usher syndrome.

Base Sequence↗
PubMed1990

Phenotypic variation in colorectal adenoma/cancer expression in two families. Hereditary flat adenoma syndrome.

Clinical, pathologic, and genetic studies on two colorectal cancer-prone families have disclosed right-sided colonic flat adenomas and colorectal cancer. Adenomatous polyp counts exceeded those found in hereditary nonpolyposis colorectal cancer (HNPCC) but were fewer than in familial adenomatous polyposis (FAP). Colon cancer occurred at a later age than in HNPCC or FAP and showed right-sided predominance. The older age of patients with colonic cancer, the right-sided predominance of colon cancer, and the paucity of rectal adenomas make FAP unlikely. Vertical transmission of polyps and colon cancer fit the pattern of autosomal dominant inheritance. A characteristic feature of this phenotype is the predominance of flat adenomas. Molecular genetic studies, with careful description of phenotype, should help clarify classification.

Adenocarcinoma↗
PubMed1990

Localization of Usher syndrome type II to chromosome 1q.

Usher syndrome is characterized by congenital hearing loss, progressive visual impairment due to retinitis pigmentosa, and variable vestibular problems. The two subtypes of Usher syndrome, types I and II, can be distinguished by the degree of hearing loss and by the presence or absence of vestibular dysfunction. Type I is characterized by a profound hearing loss and totally absent vestibular responses, while type II has a milder hearing loss and normal vestibular function. Fifty-five members of eight type II Usher syndrome families were typed for three DNA markers in the distal region of chromosome 1q: D1S65 (pEKH7.4), REN (pHRnES1.9), and D1S81 (pTHH33). Statistically significant linkage was observed for Usher syndrome type II with a maximum multipoint lod score of 6.37 at the position of the marker THH33, thus localizing the Usher type II (USH2) gene to 1q. Nine families with type I Usher syndrome failed to show linkage to the same three markers. The statistical test for heterogeneity of linkage between Usher syndrome types I and II was highly significant, thus demonstrating that they are due to mutations at different genetic loci.

Chromosome Mapping↗
PubMed1980

Long-term follow-up of occlusion of the central retinal vein in young adults.

We did a long-term follow-up study of 42 patients aged 40 years and younger who had occlusion of the central retinal vein in order to learn its course and determine the frequency of related systemic disorders. Two groups of venous occlusion (complete and incomplete) were delineated by initial ocular findings. Final visual prognosis could not be predicted by the severity of the venous occlusion at the time of diagnosis. The presence of anomalous disk vessels closely correlated with a favorable prognosis in patients who had complete occlusion of the central retinal vein. None of the patients with incomplete central vein occlusion developed neovascular glucoma; three (14%) of the 21 patients with complete venous occlusion developed neovascular glucoma, which resulted in enucleation. Significant associated systemic maladies included cardiovascular disease and diabetes mellitus. An apparent correlation exists between occlusion of the central retinal vein and early death.

Adolescent↗
PubMed1979

360 degrees prophylactic cryoretinopexy. A clinical and experimental study.

Complications occurred after 360 degrees prophylactic cryoretinopexy in three of six eyes in which fellow eyes had previously developed aphakic retinal detachment. Two of the six prophylactically treated eyes developed retinal detachment in advance of anticipated cataract surgery, and a third developed vitreitis and progressive preretinal membrane formation after uncomplicated cataract extraction. In an experiment study with rhesus monkeys, preretinal membrane formation was produced by administering heavy freezes with 360 degrees cryoretinopexy. Although the quantities of cold were considered excessive for clinical use, the cryoretinopexy used clinically in this series must also be considered excessive. The use of 360 degrees cryoretinopexy in the management of eyes at high risk for retinal detachment must be considered judiciously. Particular caution must be exercised in administering cryoretinopexy to nondetached retinas so as to avoid heavy freezes, which destroy the linear retinal layers.

Aged↗
PubMed1979

Immune responsiveness in patients with choroidal malignant melanoma.

We studied selective in vivo and in vitro immunologic factors of 25 patients with choroidal malignant melanoma. Immune profile factors did not show consistent differences between patients with melanoma and an age-matched control population. The studies were also non-contributory in delineating variations in immunocompetence with respect to melanoma cell types. Serial immune profiles failed to identify a change when clinical evidence of metastasis developed. When tested as a group, patients with melanoma in whom metastatic disease developed during the study showed significant depression of initial mitogen-induced lymphocyte blastogenesis. This depression was noted in advance of clinically recognized metastatic disease. This group had a wide range of responses that overlapped those of control patients, thus making the usefulness of these testing factors questionable for individual prognosis or for clinical monitoring.

Adult↗
PubMed1979

What patients recall of the preoperative discussion after retinal detachment surgery.

We conducted a prospective study to determine the percentage of preoperative information that was retained by 100 patients undergoing a scleral buckling procedure. Each patient received a standardized preoperative discussion regarding the nature of retinal detachment and its management. During the immediate postoperative period, each patient was questioned about the informed consent discussion. Although 97% of the patients acknowledged a thorough preoperative discussion there was a definite disparity between the patients' concept of adequate physician disclosure and the actual retention of the preoperative explanation. Overall retention of preoperative disclosure based on correct answers to 12 questions was only 57%. Few patients, 23%, retained knowledge of surgical risks, and only 61% remembered that a foreign material would be permanently sutured to the eye. When a patient failed to remember the correct answer to a question, more than half of the time he or she denied that information relevant to the question had been discussed. The results of this study indicate that patients retain primarily information that seems to be in favor of their decision to have surgery.

Adolescent↗
PubMed1979

Impending central retinal vein occlusion associated with increased platelet aggregability.

A case is presented of an impending central retinal vein occlusion, venous stasis retinopathy, seen in an otherwise healthy 57-year-old woman. The patient demonstrated hyperactive platelets when tested for primary and secondary aggregation. Coagulation tests and platelet count were normal. It is proposed that such an abnormality in platelet function, when present, can be an important factor in the pathogenesis of impending central retinal venous occlusion. Antiplatelet therapy may be used in the management of this hemodynamic alteration.

Anticoagulants↗
PubMed1978

Transient visual impairment following cardiac arrest.

This report presents an unusual case of visual impairment following cardiac arrest during general anesthesia. The presumptive etiology was macular capillary insufficiency secondary to vascular stagnation which occurred during cardiac standstill. Ophthalmic examination confirmed areas of macular edema corresponding to localized perifoveal regional infarcts. Isolated macular infarction is not a unique condition and has been reported in hemoglobulinopathies, diabetes, and other systemic diseases.

Adult↗
PubMed1978

Retinal surgery complicated by a spontaneously acquired factor VIII inhibitor.

We studied a factor VIII inhibitor spontaneously occurring in an otherwise healthy patient who underwent retinal reattachment. The clotting defect first manifested itself as a delayed hemorrhagic choroidal detachment. His bleeding diathesis was successfully managed by infusion of factor VIII concentrate, prednisone, and cyclophosphamide. Surgical procedures in patients with severe bleeding disorders present a difficult therapeutic problem which can be effectively managed by the close cooperation of the surgeon, hematologist, coagulation laboratory, and blood bank.

Aged↗
PubMed1978

Acute macular neuroretinopathy.

A 17-year-old boy had minor visual impairment, paracentral scotomata, and parafoveal retinal lesions following a presumed viral infection. Contact lens biomicroscopy demonstrated the retinal defects to be located at the level of the deep sensory retina. Fluorescein angiography revealed subtle areas of hypofluorescence which corresponded to the visible disturbances of the sensory retina. Follow-up examination three months later revealed persistent complaints of paracentral scotomata and persistent, but less recognizable retinal lesions. We believe the primary site of involvement to be the deep sensory retina.

Acute Disease↗