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Biomedical subjects

L Fulton

Publications and source records attributed to L Fulton.

16 recordsLinked to original sources
PubMed2001

A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms.

We describe a map of 1.42 million single nucleotide polymorphisms (SNPs) distributed throughout the human genome, providing an average density on available sequence of one SNP every 1.9 kilobases. These SNPs were primarily discovered by two projects: The SNP Consortium and the analysis of clone overlaps by the International Human Genome Sequencing Consortium. The map integrates all publicly available SNPs with described genes and other genomic features. We estimate that 60,000 SNPs fall within exon (coding and untranslated regions), and 85% of exons are within 5 kb of the nearest SNP. Nucleotide diversity varies greatly across the genome, in a manner broadly consistent with a standard population genetic model of human history. This high-density SNP map provides a public resource for defining haplotype variation across the genome, and should help to identify biomedically important genes for diagnosis and therapy.

Chromosome Mapping↗
PubMed2001

Reconstruction with rectus abdominis myocutaneous free flap after orbital exenteration in children.

OBJECTIVE: To present a 1-stage technique for orbital reconstruction after exenteration with the use of myocutaneous rectus abdominis free flap in children. SURGICAL TECHNIQUE: After orbital exenteration, a myocutaneous rectus abdominis free flap with long vascular pedicle is harvested from the abdomen. The flap is transferred to the orbit and the vascular pedicle is passed through an opening made in the lateral orbital wall, where it is anastomosed to superficial temporal vessels. The skin of the flap is trimmed to correspond to the eyelid defect and the incisions are closed. METHODS: After informed consent was obtained, 2 children, 3 and 8 years old, underwent orbital reconstruction with a rectus abdominis free flap after exenteration for orbital rhabdomyosarcoma and orbital osteosarcoma in the setting of retinoblastoma. RESULTS: This technique allowed easy postoperative wound care. Viability of the flap was excellent. The technique provided sufficient volume to fill the orbit, with improved aesthetic results and minimal donor site deformity. CONCLUSIONS: The postoperative care and aesthetic outcome in patients with rectus abdominis free flap after exenteration are much improved over those provided with traditional surgical techniques. This primary reconstruction is recommended for any patient requiring orbital exenteration, but particularly for pediatric patients who tolerate debridement of traditional exenteration sites poorly.

Child↗
PubMed2001

Quality of life with functional pharyngeal preservation in advanced carcinomas of the base tongue complex using an integrated trimodality approach.

Standard management of advanced carcinoma arising from the base of the tongue or infiltrating that region from contiguous areas (henceforth referred to as base of tongue complex [BTC] tumors) with radical surgery and postoperative radiation therapy results in extensive loss of function affecting deglutition, speech, and physical appearance. From January 1995, 16 patients with advanced stage BTC tumors were entered in this phase II study. Eleven patients (74%) had N2-3 neck disease. To optimize neck control, those with clinical N+ nodes at presentation had neck dissection. This was followed by hyperfractionated radiotherapy at 120 cGy twice daily to a median dose of 7,320 cGy to the primary and 6,240 cGy to areas with pathologically positive nodes. Concomitant chemotherapy was administered during weeks 1 and 4 of the radiation therapy using bolus cisplatin 75 to 100 mg/m2 on day 1 and continuous infusional 5-fluorouracil 750 to 1,000 mg/m2/d from days 1 to 4 of each chemotherapy cycle. Survival curves were plotted for various events, using actuarial life table methods. A functional assessment was made at least 1 year after completion of treatment using a previously validated Head/Neck Performance Status Scale. The median follow-up period was 23 months. There was a 100% complete response to the treatment at the primary site. The actuarial 4-year local (primary site) control was 100%, locoregional control (including nodes) was 69%, and disease-specific survival was 70% at 4 years. The predominant acute toxicity (63% incidence) was reversible grade III mucositis resulting in a median of 9 days' interruption in treatment. All of the patients were able to complete the prescribed treatment course, and there were no treatment-related deaths. Quality of Life assessment after treatment examined all facets of oropharyngeal function. Of note, none of the patients required long-term tube feedings. For the nine patients who responded to the functional assessment questionnaire, the results were excellent (score >75). The mean score for ability to eat in public was 75, mean of 76 for normalcy of diet, and 91 for understandability of speech. Concomitant hyperfractionated chemoradiation therapy produced excellent functional preservation with good long-term control in this patient group with historically poor prognosis. A 4-year actuarial local control rate of 69% was obtained, which is comparable to results of radical surgery and adjuvant radiation therapy. Further studies with modifications of fractionation and use of newer chemotherapy agents/radioprotectors will improve on these gains while reducing toxicity.

Adult↗
PubMed2001

Surveying Saccharomyces genomes to identify functional elements by comparative DNA sequence analysis.

Comparative sequence analysis has facilitated the discovery of protein coding genes and important functional sequences within proteins, but has been less useful for identifying functional sequence elements in nonprotein-coding DNA because the relatively rapid rate of change of nonprotein-coding sequences and the relative simplicity of non-coding regulatory sequence elements necessitates the comparison of sequences of relatively closely related species. We tested the use of comparative DNA sequence analysis to aid identification of promoter regulatory elements, nonprotein-coding RNA genes, and small protein-coding genes by surveying random DNA sequences of several Saccharomyces yeast species, with the goal of learning which species are best suited for comparisons with S. cerevisiae. We also determined the DNA sequence of a few specific promoters and RNA genes of several Saccharomyces species to determine the degree of conservation of known functional elements within the genome. Our results lead us to conclude that comparative DNA sequence analysis will enable identification of functionally conserved elements within the yeast genome, and suggest a path for obtaining this information.

Base Sequence↗
PubMed2000

Subconjunctival carboplatin in retinoblastoma: impact of tumor burden and dose schedule.

OBJECTIVE: To evaluate the impact of tumor burden and chemotherapy dose scheduling on the response to subconjunctival carboplatin treatment in a murine transgenic retinoblastoma model. METHODS: Eighty simian virus 40 T antigen-positive mice were treated at age 5 or 10 weeks. Six control animals received placebo treatment. Twenty-four 5-week-old mice received 6 subconjunctival carboplatin injections at doses of 30 to 300 microg delivered at 72-hour intervals. Fifty 10-week-old mice received either 6 or 12 subconjunctival carboplatin injections at doses of 30 to 300 microg delivered at 72-hour intervals. All eyes were obtained at age 16 weeks for histopathologic examination. Eyes were graded as positive if any tumor was present. RESULTS: All simian virus 40 T antigen-positive control eyes contained large tumor foci throughout the retina. Subconjunctival carboplatin injections controlled tumors in a dose-dependent manner. Tumor control was observed in 50% of treated eyes at 138.3 microg for the 10-week-old 6-injection group, 94.3 microg for the 5-week-old 6-injection group, and 85.9 microg for the 10-week-old 12-injection group. CONCLUSION: Increased tumor burden requires an increase in subconjunctival carboplatin dose scheduling to maintain local tumor control in this murine model of retinoblastoma. CLINICAL RELEVANCE: This study documents the efficacy of subconjunctival carboplatin in the treatment of an animal model of retinoblastoma. These data establish a framework for further human clinical trials. Arch Ophthalmol. 2000;118:1549-1554

Animals↗
PubMed2000

Siblings of retinoblastoma patients: are we underestimating their risk?

PURPOSE: To describe the clinical presentation of probable germ-line mosaicism in four retinoblastoma kindreds. METHODS: Review of 255 retinoblastoma patients and their family records in a University of California, San Francisco-Bascom Palmer database to identify those with potential germ-line mosaicism. Parents and siblings of retinoblastoma patients were given comprehensive ophthalmologic examinations. RESULTS: Four kindreds were identified, wherein retinoblastoma was diagnosed in two siblings and both parents demonstrated no evidence of retinoblastoma or retinocytoma. CONCLUSION: Clinical appearance of germ-line mosaicism is demonstrated in our retinoblastoma patient populations. We recommend routine clinical screening of all parents and siblings of retinoblastoma patients to provide more accurate genetic counseling and to allow earlier examination and treatment of children at presymptomatic disease stages. Germ-line mosaicism must be considered as a genetic transmission pattern in these patients, and genetic counseling should specifically recognize this possibility. If a parent is germ-line mosaic, the possibility of bearing a second child with retinoblastoma is clearly higher than conventionally believed.

Female↗
PubMed1999

Spontaneous regression of orbital Langerhans cell granulomatosis in a three-year-old girl.

PURPOSE: To report a case of spontaneous regression of orbital Langerhans cell granulomatosis. METHOD: Case report. A 3-year-old girl was initially examined with a 5-week history of slowly progressive blepharoptosis and periorbital swelling of the left eye. RESULTS: Computed tomographic scan showed a mass in the left orbit eroding into the left frontal bone; fine-needle aspiration confirmed diagnosis of Langerhans cell granulomatosis. After initial biopsy, the patient was treated by close observation alone. Six months after initial examination, the monostotic lesion had completely resolved. CONCLUSIONS: In some cases of monostotic Langerhans cell granulomatosis, initial biopsy followed by observation alone may allow for the spontaneous regression of the lesion. This conservative approach to treatment is an important therapeutic option that may spare the patient the adverse effects of surgical resection, radiation, or chemotherapy.

Blepharoptosis↗
PubMed1995

Creating the role of the retention program coordinator.

During healthcare restructuring, nurse satisfaction can suffer. The following article describes how nurse executives and human resource professionals can implement a full- or part-time retention coordinator role for their healthcare facility. These authors describe how a retention coordinator can use formal and informal meetings to keep track of nurse satisfaction and develop strategies that identify and solve nurse satisfaction problems.

Humans↗
PubMed1994

Complete nucleotide sequence of Saccharomyces cerevisiae chromosome VIII.

The complete nucleotide sequence of Saccharomyces cerevisiae chromosome VIII reveals that it contains 269 predicted or known genes (300 base pairs or larger). Fifty-nine of these genes (22 percent) were previously identified. Of the 210 novel genes, 65 are predicted to encode proteins that are similar to other proteins of known or predicted function. Sixteen genes appear to be relatively recently duplicated. On average, there is one gene approximately every 2 kilobases. Although the coding density and base composition across the chromosome are not uniform, no regular pattern of variation is apparent.

Base Composition↗
PubMed1983

Roasting and braising beef roasts in microwave ovens.

Cooking time, yield, and palatability of beef round, chuck, and rib eye roasts cooked in microwave ovens and in conventional ovens were compared. Cooking times were considerably shorter in the microwave ovens than in the conventional ovens. Reduced power was used for microwave cooking of roasts, except that rib eye roasts were cooked at full power for the first 5 min. The yield of cooked lean meat was the same for round and chuck roasts cooked by either type of oven, while the yield was lower for rib eye roasts cooked in the microwave oven than for rib eye roasts cooked in conventional ovens. Tenderness, softness, and natural flavor panel ratings and tenderness as measured by shear force were not affected by the treatment. Rib eye roasts were browner and less juicy when cooked in the microwave ovens.

Animals↗
PubMed1981

Molar pregnancy: early diagnosis by ultrasound.

This report reviews four cases with vaginal bleeding and early ultrasound diagnosis of abnormal pregnancy before nine weeks gestation, who were followed by serial ultrasound examinations and subsequently diagnosed as hydatidiform mole. The findings support the view that hydatidiform mole may arise from a blighted ovum. It is concluded that vaginal bleeding in the first trimester should be investigated by diagnostic ultrasound, and the pregnancy by terminated if an abnormal development has been confirmed.

Adult↗
PubMed1978

Baked products for the fat--controlled, low--cholesterol diet.

Shortened cakes, sugar cookies, pastry, biscuits, muffins, and yeast bread were made with oil in place of hydrogenated shortening with little change in quality. Either 1 c. or 3/4 c. oil could be subsituted for hydrogenated shortening in shortened cakes, biscuits, muffins, and yeast bread. Sugar cookies were best when 1 c. oil replaced 1 c. hydrogenated shortening. Pastry was best when 3/4 c. oil was substituted for 1 c. shortening. The effect of method of mixing on product quality often was greater than the effect of the amount of oil.

Bread↗