Medicine
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Alport syndrome (AS) is a genetically heterogeneous disease arising from mutations in genes coding for basement membrane type IV collagen. About 80% of AS is X-linked, due to mutations in COL4A5, the gene encoding the alpha 5 chain of type IV collagen (alpha 5[IV]). A subtype of X-linked Alport syndrome (XLAS) in which diffuse leiomyomatosis is an associated feature reflects deletion mutations involving the adjacent COL4A5 and COL4A6 genes. ⋯ Spontaneous and engineered animal models are being used to study genetic and pharmacologic therapies. Renal transplantation for AS is usually very successful. Occasional patients develop anti-GBM nephritis of the allograft, almost always resulting in graft loss.
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Comparative Study
Spinal tuberculosis in adults. A study of 103 cases in a developed country, 1980-1994.
Spinal tuberculosis (TB) accounts for about 2% of all cases of TB. New methods of diagnosis such as magnetic resonance imaging (MRI) or percutaneous needle biopsy have emerged. Two distinct patterns of spinal TB can be identified, the classic form, called spondylodiscitis (SPD) in this article, and an increasingly common atypical form characterized by spondylitis without disk involvement (SPwD). ⋯ There were 2 TB-related deaths. Our data suggest that SPwD may now be the most common pattern of spinal TB in foreign-born subjects in industrialized countries. The reasons for this remain to be elucidated.
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Comparative Study
Rates of initial and recurrent thromboembolic disease among patients with malignancy versus those without malignancy. Risk analysis using Medicare claims data.
Although the association between malignancy and thromboembolic disease is well established, the relative risk of developing initial and recurrent deep vein thrombosis (DVT) or pulmonary embolism (PE) among patients with malignancy versus those without malignancy has not been clearly defined. The Medicare Provider Analysis and Review Record (MEDPAR) database was used for this analysis. Patients hospitalized during 1988-1990 with DVT/PE alone, DVT/PE and malignancy, malignancy alone, or 1 of several nonmalignant diseases (other than DVT/PE) were studied. ⋯ The relative risk of DVT/PE among patients with specific types of malignancy is described. This study demonstrates that patients with concurrent DVT/PE and malignancy have a more than threefold higher risk of recurrent thromboembolic disease and death (from and cause) than patients with DVT/PE without malignancy. An alternative management strategy may be indicated for such patients.
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Review Case Reports
Pseudochylothorax. Report of 2 cases and review of the literature.
We report 2 cases of pseudochylothorax and review 172 published cases. Tuberculosis is by far the most frequent cause of pseudochylothorax, accounting for 54% of all caes, with a remarkable association with previous collapse therapy and long-term effusions. The remaining etiologies, including rheumatoid arthritis, are infrequent. ⋯ Currently, adenosine deaminase (ADA) values in pleural fluid are not useful to sustain diagnosis or therapeutic decisions. We advise draining only symptomatic cases and treating patients with positive Ziehl-Neelsen stain or Lowenstein culture, and those with growing effusions of suspected tuberculous origin, with antituberculous chemotherapy. Pulmonary decortication should be the last therapeutic step for recurrent and symptomatic cases.
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Case Reports
The clinical management of sarcoidosis. A 50-year experience at the Johns Hopkins Hospital.
Sarcoidosis is an enigmatic disease with extremely variable manifestations in pattern, severity and course. Since Longcope and Freiman's descriptive monograph in 1952 (50) summarizing the clinical findings of the first half of this century, new dimensions of assessing the disease and treatment have been added. The impact of corticosteroids is central. ⋯ Such etiologic questions should be explored from both a basic science and an epidemiologic approach. Therapeutic trials of new drugs such as pentoxyfylline and possibly thalidomide are needed to address their potential as well as limitations of steroid therapy. Finally, for patients who have progressed to organ failure, the problems of sarcoid recurrence in transplanted tissue, increased allograft rejection, and long-term prognosis of solid organ transplants have yet to be resolved. (ABSTRACT TRUNCATED)