Two new mutations at the adenosine deaminase (ADA) locus (Q254X and del nt1050-54) unusual for not being missense mutations.
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Adenosine Deaminase↗
Biomedical subjects
A S Chen
Publications and source records attributed to A S Chen.
Stent use with extracorporeal shock wave lithotripsy.
Since the advantages of using ureteral stents in conjunction with extracorporeal shock wave lithotripsy were first recognized, the growing demand for outpatient stone treatment has made stent use much more frequent. However, prophylactic stent placement must be judicious to maximize success and minimize associated morbidity. Recent controlled retrospective studies and randomized trials showed that ureteral stenting does not increase the stone-free rate or reduce the complication rate for stones less than 2 cm in size, yet in such cases, there are increased morbidities such as urinary urgency, frequency, stent migration, and encrustation. However, in patients with stones larger than 2 cm, Type C4 staghorn calculi, or stones associated with a solitary kidney, prophylactic stent placement may reduce the complication rates arising from these larger stone burdens. Finally, ureteral stenting may be helpful for stone localization or manipulation.
Equipment Design↗
Transcription initiation sites and structural organization of the extreme 5' region of the rat neural cell adhesion molecule gene.
Through analysis of rat genomic cosmid clones, the 5'-most exon of the rat neural cell adhesion molecule (NCAM) gene was identified. This exon, here named exon 0, contained the entire 5' untranslated region and the N-terminal signal sequence of the polypeptide. Exon 0 was isolated from a 1.6-kilobase (kb) EcoRI-HindIII fragment of rat genomic cosmid clone 9 which was 35 kb in length. This fragment was sequenced and found to contain approximately 940 base pairs (bp) of 5'-flanking sequence, exon 0, which was approximately 245 bp in length, and approximately 400 bp of the following intron 0. By using information derived from this fragment and the pR18 rat NCAM cDNA, the transcription initiation sites were determined with two assays. Both primer extensions and nuclease S1 protection assays of postnatal day 7 rat brain RNA identified seven initiation sites within a single 10-bp region at positions -195 to -186 relative to the translation start site. An additional minor site was found at position -329. In the immediate 5' region, no consensus TATA or CCAAT sequences were found. Potential regulatory elements within this region include Sp1 consensus binding sites and also a 178-bp homopurine-homopyrimidine sequence containing several mirror repeats. NCAM has multiple transcripts which are regulated in a developmental and tissue-specific fashion. To determine whether these transcripts are initiated at the same sites, transcription initiation sites were analyzed in postnatal day 7 and adult rat brain and also in cultured cell lines of neuronal, glial, and muscle phenotypes. These tissues and cells exhibited distinct NCAM transcript populations in Northern (RNA) dot blot analysis. In all cases similar transcription start sites were found, suggesting that all major NCAM transcripts have similar or identical initiation sites. These results provide essential information to begin analysis of NCAM regulation in different tissues and during development.
Aging↗
Hypochlorous acid-activated carbon: an oxidizing agent capable of producing hydroxylated polychlorinated biphenyls.
Granular activated carbon (GAC), in the presence of dilute aqueous hypochlorite solutions typical of those used in water treatment, was converted to a reagent capable of carrying out free-radical coupling reactions and other oxidations of dilute aqueous solutions of phenols. The products included biphenyls with chlorine and hydroxyl substitution (hydroxylated polychlorinated biphenyls). For example, 2,4-dichlorophenol, a common constituent of wastewaters and also natural waters treated with hypochlorite, was converted to 3,5,5'trichloro-2,4'-dihydroxybiphenyl and several related compounds in significant amounts. It is possible that these products pose more of a health hazard than either the starting phenols or the unhydroxylated polychlorinated biphenyl derivatives.
Carbon↗
Patterns and intensity of autofluorescence and its relation to melanin in human epidermis and hair.
The skin of 41 patients including 16 blacks, 15 Caucasians, and 10 Hispanics, was observed using a fluorescent microscope. Three patterns of autofluorescence were observed: intercellular, cytoplasmic, and a combination of intercellular and cytoplasmic. The hair of 75 subjects, including 18 Negroes and 55 Caucasians, was observed. Two patterns were found: medullar and at the cortex. Skin form black patients was associated with the cytoplasmic pattern of autofluorescence. Compared to lighter skin, black skin was also significantly associated with increased intensity of autofluorescence, indicating that autofluorescence of the epidermis parallels the clinical degree of pigmentation. In the hair of 75 subjects, similar results were obtained: Negro hair exhibited more fluorescence than Caucasian hair, and darker hair (brown to black) exhibited more fluorescence than lighter hair (blond). This may be related to melanin and it breakdown products.
Black People↗
Mail order merchandise and you, the dentist. Council on Dental Materials and Devices.
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Commerce↗
Clinical heterogeneity in autosomal dominant optic atrophy in two 3q28-qter linked central Illinois families.
PURPOSE: To examine the clinical and genetic heterogeneity of autosomal dominant optic atrophy among two unrelated central Illinois families. METHODS: Forty-three individuals from two pedigrees had complete eye examinations. Linkage analysis was performed with microsatellite markers from the region 3q28-29. RESULTS: Visual acuity in 21 affected individuals ranged from 20/25 to 20/800. Vision loss was more severe in males than females (P = 0.02). Color vision testing revealed generalized dyschromatopsia. Both visual acuity and color vision deteriorated with age. Linkage was established to chromosome 3q28-29 (LODmax = 4.68 for D3S2305). CONCLUSION: Autosomal dominant optic atrophy linked to chromosome 3q28-29 shows intrafamilial phenotypic variation as well as sex-influenced severity in two Midwestern families.
Adolescent↗
Patterns of spread in node-positive cervical cancer: the relationship between local control and distant metastases.
PURPOSE: The presence of metastatic pelvic nodes in stage I and II cervical cancer predicts for pelvic and distant recurrence. Whether this malignancy is a systemic disease at onset or locoregionally advanced disease is unclear. To examine this issue, we reviewed cases of node-positive stage I and II cervical cancer to analyze the patterns of spread and the relationship between local control and distant metastasis. MATERIALS AND METHODS: Between 1964 and 1993, 163 patients with FIGO stage I-II cervical cancer underwent exploratory laparotomy and bilateral pelvic lymph node dissection and were found to have metastatic pelvic nodes. Patients with positive para-aortic nodes were excluded. Of these patients, 108 underwent radical hysterectomy and postoperative pelvic irradiation, 35 underwent radical hysterectomy without postoperative pelvic irradiation, and 20 did not undergo radical hysterectomy and were treated with definitive radiation therapy. RESULTS: The overall 5- and 10-year actuarial disease-free survival rates for the entire group were 55% and 49%, respectively. The 5- and 10-year actuarial pelvic failure rates were 30.5% and 37%, respectively. The actuarial distant metastatic rates at 5 and 10 years were 30% and 34%, respectively. Patients who were controlled in the pelvis (114) had significantly lower rates of developing distant metastases at 5 and 10 years (21% and 22%, respectively) compared with patients who failed in the pelvis (49) with rates of 59% and 84%, respectively. Multivariate analysis found that pelvic failure had the strongest association with the development of distant metastases. Using the formula of Suit et al to assess potential improvement in cure from perfect local and distant control, survival advantages from increased local and distant control were 24% and 21%, respectively. Of those patients who failed both locally and distantly (22), 27% failed distantly 6 months or more after failing locally. CONCLUSIONS: Early-stage node-positive cervical cancer is associated with both increased distant and local failure. There appear to be two patterns of disease spread: patients whose disease is locoregional, in whom improvements in local control can result in improved cure, and patients with biologically aggressive cancer, who probably have disseminated disease at presentation, in whom improved locoregional control will not be enough to increase survival but who require improved distant control.
Adenocarcinoma↗