Relative carriage rates of nuclear dehydrogenating clostridia in two populations of different colorectal cancer risk

Carriage of nuclear dehydrogenating clostridia has been associated with colon cancer and implicated in its aetiology. This study has compared the carriage of these organisms in a British population at high risk for the development of colon cancer with a low risk Nigerian population. Clostridia were found in all of the stools from both populations. Nuclear dehydrogenating clostridia were only found in the stools of the British subjects (32%). These results support the suggestion that the carriage rate of nuclear dehydrogenating clostridia in a population is related to the risk of colon cancer.     

Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability

X-linked spinal and bulbar muscular atrophy (SBMA) is caused by a CAG repeat expansion in the first exon of the androgen receptor (AR) gene. Disease-associated alleles (37-66 CAGs) change in length when transmitted from parents to offspring, with a significantly greater tendency to shift size when inherited paternally. As transgenic mice carrying human AR cDNAs with 45 and 66 CAG repeats do not display repeat instability, we attempted to model trinucleotide repeat instability by generating transgenic mice with yeast artificial chromosomes (YACs) carrying AR CAG repeat expansions in their genomic context. Studies of independent lines of AR YAC transgenic mice with CAG 45 alleles reveal intergenerational instability at an overall rate of approximately 10%. We also find that the 45 CAG repeat tracts are significantly more unstable with maternal transmission and as the transmitting mother ages. Of all the CAG/CTG repeat transgenic mice produced to date the AR YAC CAG 45 mice are unstable with the smallest trinucleotide repeat mutations, suggesting that the length threshold for repeat instability in the mouse may be lowered by including the appropriate flanking human DNA sequences. By sequence-tagged site content analysis and long range mapping we determined that one unstable transgenic line has integrated an approximately 70 kb segment of the AR locus due to fragmentation of the AR YAC. Identification of the cis - acting elements that permit CAG tract instability and the trans -acting factors that modulate repeat instability in the AR YAC CAG 45 mice may provide insights into the molecular basis of trinucleotide repeat instability in humans.      

33-year follow-up after simple excision of a giant renal oncocytoma with calcifications: case report and review of the literature.

Renal oncocytoma can present with calcification seen on the plain roentgenogram. From a review of the literature (both before and after 1976, when the concept of oncocytoma was popularized in the English literature), 10 cases of calcification in association with renal oncocytoma were found. In three of these 10 cases, the calcifications could be grossly demonstrated on the plain roentgenogram; in the other seven cases, the calcifications were microscopic in nature. The presence of calcification in a renal tumor does not rule out the diagnosis of oncocytoma. Grossly, a renal oncocytoma has a brownish mahogany color. A case is presented in which simple excision of an oncocytoma resulted in a 33-year survival. In the future, excision instead of nephrectomy could become the standard treatment for these tumors.     

The effect of menopause on the relation between weight gain and mortality among women

OBJECTIVE: To examine the effect of menopause on the relation between weight gain and all-cause mortality. DESIGN: Prospective cohort study of 6,030 adults (ages 25-82 years) who never smoked cigarettes, had no history of coronary heart disease, cancer, or stroke, and were enrolled in a 29-year follow-up in which anthropometric data were given at baseline and at 17 years after baseline. RESULTS: Weight gain that occurred over a 17-year interval (baseline to 17 years after baseline) increased the mortality risk of men and middle-aged women, but decreased the mortality risk of older women. Further study of the women revealed that a strong protective effect of weight gains was only evident among the leanest (25 kg/m2) postmenopausal women [HR (95% CI) = 0.81 (0.41, 1.58)] or for premenopausal women [HR (95% CI) = 1.05 (0.49, 2.25) for 25 kg/m2]. We found that the protective effect of weight gain among the leanest postmenopausal women was primarily due to a more than threefold decrease in cardiovascular disease mortality risk. One possible explanation for these findings is that weight gain increases the level of adipose-tissue-derived estrogen among lean postmenopausal women. CONCLUSION: Moderate menopausal weight gain may be well tolerated in lean women.     

Cytogenetic and molecular cytogenetic studies of a case of interstitial deletion of proximal 15q

A 4-month-old child with multiple anomalies was determined to have an interstitial deletion of chromosome 15, i.e., del(15) (q12q14). The deletion appears not to be a typical deletion of 15q12 such as seen in Angelman and Prader-Willi syndromes, but appears to be more distal, involving either loss of all of 15q12 and part of 15q14, or part of 15q12 and most of 15q14. In either case, 15q13 is missing. Fluorescent in situ hybridization with probes for 15 centromere (D15Z), pericentromeric satellite sequences (D15Z1), and chromosome 15 painting probes shows the deleted chromosome to involve only 15 and no other acrocentric chromosome. Hybridization with probes for the AS and PWS loci (D15S11 and GABAB3, Oncor) show both sites to be intact in the deleted 15. The case is compared with two other reports with overlapping interstitial deletions of proximal 15q, neither of which shows typical features of Angelman or Prader-Willi syndromes.     

Effect of articular disease and total knee arthroplasty on knee joint-position sense

Joint proprioception in the human knee has been studied using two previously described tests. Threshold of detection of slow, constant, passive motion and ability to reproduce angles to which the knee was passively placed were accurately measured. A group of postoperative total knee arthroplasty (TKA) patients were examined. All patients also had documented articular disease in the unoperated knee. Results were compared to age-matched controls. In addition, a young control group was studied for comparison to both groups. A significant difference was seen between the young control group and the older control group in both tests performed. Age-matched controls and the postoperative patients demonstrated an even greater difference. There was, however, no difference between the operated and unoperated knee among the TKA patients. It is concluded that joint proprioception declines to some degree with normal aging. A more marked decline is associated with degenerative joint disease. Total joint replacement, however, did not lead to a further decrease in sensation.     

Localized lymphatic sporotrichosis after fish-induced injury (Tilapia sp.).

Localized lymphatic sporotrichosis generally develops after the fungus Sporothrix schenckii is traumatically introduced into skin or mucosa by contaminated plant material. An 18-year-old male fisherman was injured by spines of the dorsal fin of a fish on the left third finger. The lesion became ulcerated, edematous and suppurative and did not respond to tetracycline and cephalexin. Fifteen days after the accident, a nodular lymphangitic pattern of swelling was observed. Histopathological findings and an intradermal test were suggestive of sporotrichosis and mycological cultures confirmed the diagnosis. The lesions resolved after oral treatment with potassium iodide. Sporotrichosis is a common subcutaneous mycosis in Brazil, and there is a previous report in the literature of this disease being acquired via trauma involving fish spines.