摘要:

Advances in neurogenetics are facilitating clinical care. Localization of the mutant gene that causes myotonic muscular dystrophy (DM) to chromosome 19 enabled our predictive testing using linked DNA probes in 74 members of 12 families at risk. Individuals sought either diagnostic confirmation or exclusion with childbearing in mind, or requested prenatal diagnosis. Valuable information was provided for 11 of 12 families. Of 14 individuals at 50% risk, 12 learned they did not have DM, two learned they did (although presymptomatic), and prenatal diagnoses of affected fetuses were made in three families—all with high degrees of certainty. The future opportunity for prenatal diagnosis was provided for 3 other families. The potential health risks to an affected female and her affectedornonaffected fetus provide cogent reasons for physicians to inform DM families in their care about these important advances and opportunities to avert grave complications.

ISSN:0002-9629    

出版商:OVID    

年代:1991

数据来源: OVID

摘要:

We have studied the expression of oncogene-encoded mRNAs in a rat model of colon cancer. In this model, rats are intrarectally administered several low doses of the direct-acting carcinogen, N-methyl-N-nitrosourea (MNU). Tumors, predominantly adenomas, develop 5–7 months following administration of the carcinogen, and many of these progress to carcinomas. Upon assaying the steady-state levels of oncogene-encoded transcripts in normal rat colon, we found that fos and N-myc are highly expressed; H-ras, K-ras, myc, myb, and neu messages are present at lower levels; and N-ras, abl, and raf mRNAs are absent. When we compared transcript levels in rat tumors to those in normal colons from the same animal, we observed a 2–4 fold increase in both myc- and H-ras-encoded mRNAs and a 2–7 fold increase in myb message, but no change in expression of any of the 7 other genes. To test whether this increased expression is related to tumor production or is simply a result of the more rapid cellular turnover observed in tumor tissue, the level of oncogene-encoded transcripts was assayed in colonic mucosae of rats given two treatments known to enhance cell turnover and DNA synthesis in the colon. Neither acute application of MNU nor a diet containing 1% cholic acid caused any change in the level of oncogene-encoded mRNAs in rat colons, thus suggesting that the increased abundance of myc, myb, and H-ras messages in tumors is associated with tumor formation. The enhancement of expression of these genes in adenomas, as well as in carcinomas, further suggests that these alterations occur relatively early during the tumorigenic process.

ISSN:0002-9629    

出版商:OVID    

年代:1991

数据来源: OVID

摘要:

Twenty-four patients with advanced metastatic cancer were treated with continuous intravenous 5-fluorouracil infusion 200–300 mg/m2/day and alpha interferon 3 million units subcutaneously 3 times per week. The average duration of treatment was 87 days (range 22–204 days). 5-fluorouracil could be infused 66% of the planned time on treatment, and patients received an average of 60% of the planned interferon injections. Objective tumor responses were seen in 6 of 17 previously untreated patients (35%). Twenty-two of the 24 patients (92%) experienced toxicity (≥ECOG grade II) that required treatment interruption and subsequent dose reduction predominantly for the following reasons: mucositis (67%), hand-foot syndrome (21%), and leukopenia (25%). The incidence of treatment limiting toxicity is higher than previously observed with 5-fluorouracil infusion alone. This suggests true augmentation of 5-fluorouracil effect by interferon. 5-Fluoro-uracil infusion and alpha interferon is a potentially useful combination that needs further evaluation in future phase II and phase III trials.

ISSN:0002-9629    

出版商:OVID    

年代:1991

数据来源: OVID

摘要:

Several techniques used in smoking cessation counseling have been shown to be useful in physicians' efforts to help their patients quit smoking. The use of these techniques by Tulsa physicians was assessed through a survey of private practice internists, internal medicine residents, and family practice residents in a university-based community hospital. The majority of physicians (85%) reported they brought up the subject of smoking with their patients. Other techniques were used less frequently, with 34% of physicians never giving their patients self-help materials, 83% never using a quit date contract, and 73% never making appointments mainly to discuss smoking. Private practice physicians reported using more techniques than did the residents. Internists who practice a sub-specialty reported using fewer techniques, and this was especially true in the younger physicians. Ten percent of physicians were often satisfied with their efforts, and 14% had formal training in smoking counseling techniques. Some physicians apparently learn how to better use these techniques as their experience increases. Training physicians while they are in residency and early subspecialty practice may accelerate this process and enable more smokers to quit with their physicians' help.

ISSN:0002-9629    

出版商:OVID    

年代:1991

数据来源: OVID

摘要:

The vast majority of patients with Kaposi's sarcoma (KS) of the epidemic, endemic or sporadic variety are men. Although 35 percent of men with AIDS will develop KS, only three percent of women will develop this malignancy. To date, a single case report of transfusion associated KS in an HIV-infected female has been described in the medical literature. We report a second case. A 54-year-old HIV-infected female without other identifiable risk factors for AIDS developed disseminated KS six years after a blood transfusion. Her illness was marked by rapidly proliferating tumors not responsive to a single course of chemotherapy. Another unusual aspect of this case is that, in conjunction with weight loss and diarrhea, Campylobactercinaedi was recovered from her blood. This enteric pathogen has previously been described exclusively in homosexual men. Autopsy studies showed KS tumors involving all major visceral organs. This case report demonstrates that in HIV-infected females KS may follow an aggressive course similar to that seen occasionally in male KS patients with profound immuno-suppression.

ISSN:0002-9629    

出版商:OVID    

年代:1991

数据来源: OVID

摘要:

A 36-year-old man was treated by radiotherapy for tinea capitis many years before discovery of microcystic adnexal carcinoma (MAC). Because of patient's refusal of any surgical intervention, we were able to follow the natural course of this tumor for 13 years. This case emphasizes the typical slow development of (MAC). The implication of the association of MAC and radiotherapy are discussed.

ISSN:0002-9629    

出版商:OVID    

年代:1991

数据来源: OVID

摘要:

A 33-year-old woman developed headaches, papilledema, and evanescent neurologic signs. MRI demonstrated thrombosis of the sagittal, transverse, and sigmoid sinuses. After initial heparinization and three months of oral anticoagulation therapy, papilledema was still present but the neurologic signs and symptoms had markedly improved. Repeat MRI scan revealed improvement in all dural thromboses.

ISSN:0002-9629    

出版商:OVID    

年代:1991

数据来源: OVID

摘要:

Pseudoaneurysm of the abdominal aorta is a rare finding, accounting for only 1% of all abdominal aneurysms. Abdominal pseudoaneurysms have been reported only in males, and two-thirds of the cases are the result of penetrating trauma. Pain, abdominal mass, and vascular occlusion are the most common presenting signs and symptoms. The interval between injury and rupture may range from hours to years, and accordingly, a high index of suspicion is needed to make the diagnosis.

ISSN:0002-9629    

出版商:OVID    

年代:1991

数据来源: OVID

摘要:

Alopecia areata universalis developed gradually over nine months in a 25-year-old woman. When her scalp hairs were totally lost and other body hair began to fall out, the symptoms of insulin dependent diabetes mellitus, an organ-specific autoimmune disease, developed rapidly and progressed to diabetic coma. Alopecia did not regress after the metabolic state improved following insulin therapy. Biopsy of the scalp skin revealed significant reduction of the total number of hair bulbs and prominent lymphocyte infiltration into the remaining hair follicles. Insulin dependent diabetes mellitus and alopecia areata universalis are both thought to be related to the autoimmune mechanism and sometimes coexist. However, simultaneous development of these two disorders is extremely rare.

ISSN:0002-9629    

出版商:OVID    

年代:1991

数据来源: OVID

摘要:

The success of nonsteroidal anti-inflammatory drugs in managing joint inflammation and pain has come at the cost of impressive side effects, particularly in the gastrointestinal tract. This manuscript reviews the magnitude of the problem, the risk factors, and presentation of nonsteroidal gastropathy. It also presents some points in the prevention and management of the disorder.

ISSN:0002-9629    

出版商:OVID    

年代:1991

数据来源: OVID