Microsatellite instability in natural killer cell-like T-cell lymphomas in immunocompromised and immunocompetent individuals.
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Biomedical subjects
Publications and source records attributed to S Manning.
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Foreign body (FB) injury from aspiration or ingestion is a common pediatric health problem. Diagnosis relies on clinical judgment plus medical history, physical examination, and radiographic evaluation. A multi-institutional review of 1269 FB events revealed that 85% were correctly diagnosed following a single physician encounter. However, 15% of the children had an elusive diagnosis (>1 week), despite previous evaluation. Delays in diagnosis were seven times more likely to occur in aspirations than in ingestions. Secondary injuries (e.g., pneumonia and atelectasis) occurred in 13% of airway FBs but in only 1.7% of esophageal FBs. Plain radiographs were used in 82% of children, and special studies (e.g., fluoroscopy) in only 7%. We conclude that diagnosis of FB injury in children is frequently achieved at the initial evaluation but that continued surveillance by follow-up visits to health care facilities from parents and other caretakers is important, to reduce pulmonary injuries.
Data mining is an emerging technique used more widely by the business world than the world of nursing and health care. However, this strategy can be helpful for improving the quality of decision making by clinicians and health care administrators. This paper addresses the concepts and techniques of data mining that could be useful for practicing nurses as well as nurse administrators. Data mining can be an important tool for the development of nursing knowledge and knowledge structures. An example of the use of the technique in an inpatient setting is provided and insights from the process are discussed.
Loss of heterozygosity and microsatellite instability have been often reported in breast cancer and seldom in proliferative breast disease (PBD). DNA samples from microdissected PBD lesions, including papillomas (25 lesions), from 8 women were analyzed by polymerase chain reaction for loss of heterozygosity and microsatellite instability at 10 loci including INT-2 oncogene locus, D17S796 (the p53 gene region), and D17S579 (in the region of the BRCA-1 gene). In a patient, five loci with microsatellite instability and two loci with loss of heterozygosity were identified in one papilloma with florid hyperplasia and atypia, and 10 other PBD lesions were negative for genetic alteration (GA) and atypia. Three loci with microsatellite instability were identified in another PBD lesion without atypia, whereas another lesion from this second patient had minimal atypia without GAs. These two patients have been well for more than 20 years. No other patient, including a woman developing cancer, had GAs. We detected GAs in PBD (25% of women, 8% of lesions). Incomplete correlation between GAs and anatomic atypia was suggested. It seems evident that several GAs in PBD lesions may not indicate clinically meaningful premalignancy for remaining breast.
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One of the commonly held concepts regarding allergic fungal sinusitis is that patients with this disorder also demonstrate allergy to other inhalants. However, few published investigations have confirmed this. In this study serum from 16 consecutive patients with histologically proven allergic fungal sinusitis was tested with a seasonal and a perennial radioallergosorbent microscreen disk. The seasonal radioallergosorbent microscreen combines on one disk antigens for two grasses, two weeds, and two trees, and the perennial disk contains Alternaria and dust mite antigens. Total immunoglobulin E was also determined for each sample. Fifteen of the 16 samples demonstrated a radioallergosorbent class II or greater response to both. The total immunoglobulin E level was greater than 100 units/ml in 14 samples (> 1000 in 4 cases) and 97 units/ml in another. This study addresses the presence of inhalant allergy in patients with allergic fungal sinusitis previously described in case reports. The results support the concept that allergic fungal sinusitis is a true allergic (rather than infectious) disease.
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We report here the construction of a genetic linkage map and an overlapping set of clones containing DNA markers linked to the causative locus for facioscapulohumeral muscular dystrophy (FSHD) on 4q35. Multipoint linkage analysis placed eight loci in the following order with odds greater than 1000:1: cen-D4S171-FXI-D4S426-D4S187-D4S130-D4S 163-D4S139-D4F35S1-qter. The most likely position of D4S809 was distal to D4F35S1. Thirty-four yeast artificial chromosomes (YACs) were isolated by PCR-based assays for STSs derived from DNA markers with known genetic and physical order. Walking from the insert ends of 2 YACs identified 7 additional YACs, bridging the gaps between three of the markers. Two new YACs were found by hybridization of a cosmid inter-Alu PCR product to dot blots of inter-Alu PCR products of YAC DNA pools. All YAC clones were positioned using the genetic and physical order of the STSs and inter-Alu PCR fingerprint data. Eleven of the YACs and two cosmids were mapped by fluorescence in situ hybridization to confirm the location of the clones and to detect chimerism. The 43 YACs were assembled into two contigs. The larger contig spans approximately 2.4 Mb and contains markers closest to the FSHD gene.
We present the fifth case of rhabdomyomatous mesenchymal hamartoma, the first reported in a female infant. The patient is an otherwise healthy 3-day-old Latin American infant, the product of an uneventful pregnancy and term delivery by a primigravida 23-year-old. Otolaryngic consultation was obtained when a 4-mm polypoid mass was noted within the left naris. Histopathology revealed the characteristic central core of mature skeletal muscle with extension peripherally into the glandular and follicular dermal structures. Although primarily of cosmetic significance, a possible association with other anomalies has been reported.
BACKGROUND: Mutations in the p53 tumor suppressor gene have been identified in breast and many other carcinomas. It is not clear, however, when these mutations occur during breast carcinogenesis. Overexpression of 53 protein has been reported in some ductal carcinoma in situ (DCIS) lesions. To further study the overexpression of p53 in DCIS of the breast and correlate these findings with changes at the molecular level, we performed p53 immunostaining and direct sequencing in noncomedo and comedo DCIS. EXPERIMENTAL DESIGN: Archival blocks were obtained on cases of noncomedo DCIS, (including encysted, noninvasive papillary carcinoma) and comedo DCIS. Immunohistochemical staining with the p53 antibody DO7 was performed on all cases. Polymerase chain reaction (PCR) amplification of exons 5, 6, and 7 of the p53 gene was performed and the PCR products were directly sequenced. Four comedo DCIS cases that were p53 immunopositive were further screened for p53 mutations by PCR/single strand conformation polymorphism in exons 8 and 9 of the p53 gene. One of these cases showing a mobility shift was directly sequenced. RESULTS: We examined 39 lesions including comedo DCIS (N = 12) and noncomedo DCIS (N = 27), the latter including 17 encysted noninvasive papillary carcinomas. Immunostaining with DO7 was positive in 4 of 12 comedo DCIS lesions (33%) while all noncomedo lesions including encysted noninvasive papillary carcinomas were negative. Direct sequencing of PCR products confirmed wild-type DNA in exons 5 and 6 in all noninvasive papillary carcinomas, 3 randomly selected noncomedo DCIS lesions, and 4 p53 antibody-positive comedo DCIS lesions. In these latter 4 cases, wild-type DNA sequences were preserved in exon 7 for all cases. A single case had a conformational shift in exon 8 within the four cases screened in exons 8 and 9. Direct DNA sequencing of this exon revealed a G to A point mutation resulting in an arginine-to-histidine substitution at codon 273 of the protein. CONCLUSIONS: Our results suggest that mutant p53 protein accumulation in preinvasive lesions is limited to comedo (high grade) DCIS and that p53 positivity by immunohistochemistry does not correlate in all cases with specific p53 mutations in exons 5 to 9, the most highly conserved regions of this gene.
No consensus exists regarding the best method of tonsillectomy. This report concerns two popular methods: 1. electrocautery excision and 2. dissection/snare followed by point coagulation of bleeding sites. To compare these methods, a prospective, randomized, single-blinded study was conducted in which 28 patients had one tonsil removed by dissection/snare and selective cautery of bleeders and the other removed by the electrocautery. Operative time and blood loss were compared. Patients rated the severity of their pain and blood loss postoperatively. Intraoperative bleeding was significantly less on the side of cautery excision, although the operative time was longer. At follow-up, pain was rated worse on the side of cautery excision.
Molar endodontics is an extensive and complex subject. The treatment of molar teeth has deservedly taken a position of elevated importance in recent years. No longer are the molar teeth a target for extraction forceps, but are more often nowadays a target for crowns. Patients and dentists alike are striving to keep the marvellous molars and, with this in mind, the pillars of the future crowns and bridges must be preserved. Endodontic treatment of molar teeth is basically no different from treating the simple, single, straight canal. The principles of complete debridement, obturation and restoration are the same. The stumbling blocks confront us in the way of anatomical variations, difficulty with isolation and access and, probably the simplest and most crucial factor, time. Given the devotion of enough time, patience, and practice, the desired result will be achievable.
A retrospective study was conducted to determine which types of children might have polysomnographic findings that are most compatible with obstructive sleep apnea (OSA). The charts of 93 patients who were aged 18 months to 12 years were examined. All 93 patients had symptoms that were initially suggestive of OSA, and they underwent polysomnography. The types of presenting symptoms and associated illnesses were noted. Physical findings, including height, weight, and tonsil size, were examined. Of 93 patients with symptoms that were suggestive of OSA, 34 met sleep study criteria for OSA. In 44 patients, OSA was not demonstrated, and 15 patients had other results. On the basis of age, sex, and symptoms, no significant differences could be found between the group with OSA and the group with normal polysomnographic findings. Cor pulmonale, tonsil hypertrophy, and failure to thrive were associated with OSA. Surprisingly, obesity was not significantly associated with OSA.
The rye-specific R173 family of repeated DNA sequences consists of ca. 15,000 individual copies per diploid rye (Secale cereale) genome and is distributed over all 7 rye chromosomes in a dispersed manner. Individual R173 elements vary in size between 3 and 6 kb, are generally not arranged as tandem repeats and are flanked by both multi-copy and single-copy sequences. DNA sequence analysis of three R173 elements (R173-1, R173-2 and R173-3) demonstrated a high degree of homology in conserved domains. The structure of R173-1 was quite different from the other two elements: long direct repeats, which represent a rye-specific repetitive sequence, were found at the ends and a 600 bp long domain was replaced by an unrelated sequence of approximately equal size. R173-2 and R173-3 were extremely similar to each other with the exception of a terminal truncation of R173-2. No open reading frames for proteins greater than 20 kDa were present and a database search failed to detect significant homologies to published protein sequences. Despite the transposon like genomic organisation of the R173 family, individual elements lacked sequence features frequently associated with transposons and retrotransposons. In contrast, two of the regions flanking R173 elements showed strong DNA homologies to a 850 bp long region of a proposed wheat retrotransposon and to a 300 bp long region downstream of the wheat Glu-D1 gene.
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