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.

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.

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.

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.

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.

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.