bluuebunny/crossref_metadata_2025_split huggingface dataset:
Molecular mapping of the putative gonadoblastoma locus on the Y chromosome
Authors: Salo Pia , Kääriäinen Helena , Petrovic Vida , Peltomäki Päivi , Page David C. , de la Chapelle Albert 
Published: February 2007

AbstractBased on the high incidence of gonadoblastoma in females with XY gonadal dysgenesis or 45,X/46,XY mosaicism, the existence of a susceptibility locus on the Y chromosome (GBY) has been postulated. We attempted to map GBY by making use of a recently developed dense map of Y‐chromosomal sequence‐tagged sites (STSs). In two female patients with gonadoblastoma, small marker chromosomes contained portions of the Y chromosome, and a single region of overlap could be defined extending from probe pDP97 in interval 4B, which contains the centromere, to marker sY182 in interval 5E of the proximal long arm. This interval is contained in a YAC contig that comprises approximately 4 Mb of DNA. Our findings confirm the previous localization of GBY and greatly refine it. The localization of GBY overlaps with the region to which a putative growth determinant, GCY, was recently assigned.
Spontaneous length variation in microsatellite dna from human T‐cell clones
Authors: Hackman Peter , Gabbani Gigliola , Österholm Anne‐May , Hellgren Dennis , Lambert Bo 
Published: February 2007

AbstractRecently, much interest has been focused on instability of microsatellite DNA sequences such as di‐ and tri‐nucleotide repeats in human cancers. Certain tumors show an increased frequency of mutation leading to repeat length variation at microsatellite loci, and it is thought that such instability may be a marker for the transformed phenotype. However, the spontaneous frequency by which repetitive DNA such as CA‐repeats undergoes size changes in normal human somatic cells is not known. Therefore, it is not possible to decide if there is an increase in the frequency of microsatellite mutation in specific tumors or if the change observed simply reflects the frequency of microsatellite mutation in the cell population from which the tumor originates. To investigate this we have established panels of T‐tymphocyte clones from 28 healthy males and determined the spontaneous length variations at three CA‐repeat markers that are often used to investigate satellite instability: D2S123, D9S180, and D10S197. We found 3 T‐cell clones with altered microsatellite size in a total of 178. This corresponds to a background frequency of 3 somatic microsatellite mutations in 1,028 alleles studied, i.e., 2.9 × 10−3. This frequency is comparable to that found in many tumors of the breast, brain, ovary, and skin but is considerably lower than the frequency of microsatellite mutation in tumors related to hereditary non‐polyposis colorectal cancer.
AF6gene on chromosome band 6q27 maps distal to the minimal region of deletion in epithelial ovarian cancer
Authors: Saha Vaskar , Lillington Debra M. , Shelling Andrew N. , Chaplin Tracy , Yaspo Marie‐Laure , Ganesan Trivadi S. , Young Bryan D. 
Published: February 2007

AbstractChromosome 6 has been shown to contain at band q27 a minimal region of deletion associated with epithelial ovarian cancers andAF6, a gene disrupted in acute myeloid leukemia with t(6;11)(q27;q23). Using rapid amplification of cDNA ends by polymerase chain reaction, the breakpoint inAF6was confirmed and a cDNA clone identified. This clone was used as a probe to screen a chromosome 6 cosmid library, and a single cosmid C‐109F0645 was isolated. By fluorescence in situ hybridization, C‐109F0465 was found to map distal to the critically deleted region associated with ovarian malignancies.AF6is therefore distinct from and lies telomeric to this region.
Massive cytogenetic heterogeneity in a pancreatic carcinoma: Fifty‐four karyotypically unrelated clones
Authors: Gorunova Ludmila , Johansson Bertil , Dawiskiba Sigmund , Andrén‐Sandberg Åke , Jin Yuesheng , Mandahl Nils , Heim Sverre , Mitelman Felix 
Published: February 2007

AbstractChromosome analysis after short‐term culture revealed remarkable cytogenetic heterogeneity in a pancreatic carcinoma. The patient had no prior history of radio‐ or chemotherapy. A total of 54 aberrant, near‐diploid, karyotypically unrelated clones were identified, three of which displayed clonal evolution. The abnormalities were unbalanced in 30% of the clones. From one to eight karyotypic anomalies per clone were found. Numerical changes were rare, whereas structural aberrations were numerous and diverse and included deletions, duplication, insertions, inversions, translocations, ring formation, and telomeric associations. All chromosomes except No. 15 were involved in structural rearrangements, chromosomes 1, 6, 7, 8, 11, and 12 being the most frequently affected. A similarly massive cytogenetic polyclonality has never been reported previously. Although the spectrum of epithelial neoplasms characterized by karyotypically unrelated clones is increasing, the pathogenetic role of this type of cytogenetic intratumor heterogeneity remains unknown.
Analysis of the wilms tumor suppressor gene WT1 in endometrial carcinoma
Authors: Rackley Raymond , Casey Graham , Zhao Xiao‐Ian , Miller David W. , Williams Bryan R. G. , Coppes Max J. 
Published: February 2007

AbstractThis study reports on the evaluation of the Wilms tumor suppressor gene WT1 in 14 endometrial carcinomas. Despite the fact that several endometrial carcinomas were shown to express WT1, we were unable to demonstrate mutations in the MT1 zinc finger region, suggesting that WT1 does not play a prominent role in the etiology of this malignancy.
Asynchrony of the early maturation of white matter bundles in healthy infants: Quantitative landmarks revealed noninvasively by diffusion tensor imaging
Authors: Dubois Jessica , Dehaene‐Lambertz Ghislaine , Perrin Muriel , Mangin Jean‐François , Cointepas Yann , Duchesnay Edouard , Le Bihan Denis , Hertz‐Pannier Lucie 
Published: February 2007

AbstractNormal cognitive development in infants follows a well‐known temporal sequence, which is assumed to be correlated with the structural maturation of underlying functional networks. Postmortem studies and, more recently, structural MR imaging studies have described qualitatively the heterogeneous spatiotemporal progression of white matter myelination. However, in vivo quantification of the maturation phases of fiber bundles is still lacking. We used noninvasive diffusion tensor MR imaging and tractography in twenty‐three 1–4‐month‐old healthy infants to quantify the early maturation of the main cerebral fascicles. A specific maturation model, based on the respective roles of different maturational processes on the diffusion phenomena, was designed to highlight asynchronous maturation across bundles by evaluating the time‐course of mean diffusivity and anisotropy changes over the considered developmental period. Using an original approach, a progression of maturation in four relative stages was determined in each tract by estimating the maturation state and speed, from the diffusion indices over the infants group compared with an adults group on one hand, and in each tract compared with the average over bundles on the other hand. Results were coherent with, and extended previous findings in 8 of 11 bundles, showing the anterior limb of the internal capsule and cingulum as the most immature, followed by the optic radiations, arcuate and inferior longitudinal fascicles, then the spinothalamic tract and fornix, and finally the corticospinal tract as the most mature bundle. Thus, this approach provides new quantitative landmarks for further noninvasive research on brain‐behavior relationships during normal and abnormal development. Hum Brain Mapp, 2008. © 2007 Wiley‐Liss, Inc.
Hand sensory–motor cortical network assessed by functional source separation
Authors: Porcaro Camillo , Barbati Giulia , Zappasodi Filippo , Rossini Paolo M. , Tecchio Franca 
Published: February 2007

AbstractThe functional source separation procedure (FSS) was applied to identify the activities of the primary sensorimotor areas (SM1) devoted to hand control. FSS adds a functional constraint to the cost function of the basic independent component analysis, and obtains source activity all along different processing states. Magnetoencephalographic signals from the left SM1 were recorded in 14 healthy subjects during a simple sensorimotor paradigm—galvanic right median nerve stimuli intermingled with submaximal isometric thumb opposition. Two functional sources related to the sensory flow in the primary cortex were extracted requiring maximal responsiveness to the nerve stimulation at around 20 and 30 ms (S1a, S1b). Maximal cortico‐muscular coherence was required for the extraction of the motor source (M1). Sources were multiplied by the Euclidean norm of their corresponding weight vectors, allowing amplitude comparisons among sources in a fixed position. In all subjects, S1a, S1b, M1 were successfully obtained, positioned consistently with the SM1 organization, and behaved as physiologically expected during the movement and processing of the sensory stimuli. The M1 source reacted to the nerve stimulation with higher intensity at latencies around 30 ms than around 20 ms. The FSS method was demonstrated to be able to obtain the dynamics of different primary cortical network activities, two devoted mainly to sensory inflow, and the other to the motor control of the contralateral hand. It was possible to observe each source both during pure sensory processing and during motor tasks. In all conditions, a direct comparison of source intensities can be achieved. Hum Brain Mapp, 2008. © 2007 Wiley‐Liss, Inc.
Twice‐a‐day radiotherapy for T3 squamous cell carcinoma of the glottic larynx
Authors: Parsons James T. , Mendenhall William M. , Mancuso Anthony A. , Cassisi Nicholas J. , Stringer Scott P. , Million Rodney R. 
Published: February 2007

AbstractBetween March 1978 and April 1986, 21 previously untreated patients with T3 squamous cell carcinoma of the true vocal cord received radical courses of twice‐a‐day radiotherapy (120 cGy twice daily) to total doses of 7,440–7,680 cGy. The rate of local control at the primary site was 67% after radiotherapy. The ultimate control rate after salvage surgery was 83%. Five‐year absolute and cause‐specific survival rates were 59% and 81%, respectively. It is concluded that radiotherapy is a rational approach for many patients with T3 glottic cancer.
Management of laryngeal radionecrosis: Animal and clinical experience
Authors: Oppenheimer Randy W. , Krespi Yosef P. , Einhorn Robert K. 
Published: February 2007

AbstractRadiation necrosis of the laryngeal cartilages is an uncommon complication of radiotheapy for laryngeal carcinoma. It is a devastating process for which there is no one acceptable treatment. Medical management offers only temporary, symptomatic relief, which further necessitates surgical treatment. Surgical management may start with a tracheotomy; however, it often ends with a total laryngectomy. Physiologically, the necrotic cartilages are the source of the problem. It is a general surgical principle that nonviable tissue must be excised to promote healing. Therefore, if the affected laryngeal cartilages were removed, the larynx should heal. Total or near total removal of the thyroid and cricoid cartilages with preservation of the endolaryngeal soft tissues has not been reported in the literature. Theoretically, if the entire cartilaginous framework is removed, there would be no structural support for the airway. We have found using animal models, that submucosal resection of the laryngeal cartilages, leaving the perichondrium and endolaryngeal soft tissues intact can result in a competent airway. Animal and clinical experience will be presented.
Operative treatment of substernal goiters
Authors: Shaha Ashok R. , Alfonso Antonio E. , Jaffe Bernard M. 
Published: February 2007

AbstractThis report describes the operative experience in 72 patients with substernal goiters treated over the past 5.5 years. Even though the incidence of multinodular goiter has decreased in the United States due to the routine use of iodized salt, we continue to see a large number of patients with massive goiters, predominantly from Carribean Islands. The diagnosis of substernal goiter was made on clinical examination augmented by such radiologic studies, as chest x‐ray, barium esophagograms, airway films, and CT scans. Computed tomographic (CT) scanning was particularly helpful in evaluating the extent of substernal extension. Confirmation of the extent of disease was made at the time of operation. Ninety percent of the patients had tracheal deviation and 85% were symptomatic from airway compression. Esophageal compression was noted in 60% of the patients. All patients had a long history of goiter with recent onset of pressure symptoms. Flow‐volume‐loop studies were performed in 44% of the patients and were useful in the evaluation of pressure symptoms. However, the decision for operation was made primarily based on clinical evaluation of signs and symptoms. Sixteen patients in this group were admitted with acute airway distress requiring airway intubation or semi‐emergency decompression. Only 1 patient required mediastinal splitting, while all others were operated by the cervical approach. The decision as to the extent of thyroidectomy was made at the time of operation. Drains were routinely used because of the large dead space. One patient developed a hematoma in the recovery room and required re‐exploration. There were no instances of recurrent laryngeal nerve palsies or of hypoparathyroidism. Two patients required tracheostomy, 1 because of poor pulmonary reserve and the other because of tracheomalacia. Even with considerable tracheal compression, tracheomalacia was noted in only 1 patient. All the patients were treated with thyroxine postoperatively. Sixty patients had benign diagnosis on pathologic examination; 12 had malignancies. Our data suggest that patients with substernal goiters should be treated operatively, especially if there are pressure symptoms or signs of tracheal compression. Using the cervical approach, 98% of the goiters can be removed easily with minimal morbidity.
Vocal rehabilitation of tracheoesophageal speech failures
Authors: Baugh Reginald F. , Lewin Jan S. , Baker Shan R. 
Published: February 2007

AbstractTwenty‐three tracheoesophageal speech failures were prospectively evaluated by clinical parameters and transnasal air insufflation at 3 L per minute. The results of testing allow an accurate indication of the etiology of the speech failure. Pharyngoesophageal spasm accounted for 79% of the failures; hypopharyngeal strictures for 26%. One patient was found to have both pharyngoesophageal spasm and a hypopharyngeal stricture. A modified air insufflation test result greater than 20 mm Hg reliably identified all tracheoesophageal speech failures prior to tracheoesophageal puncture. Clinical parameters were not helpful in identifying speech failures. Successful treatment of the specific etiology of the failure resulted in a reduction of the measured intraesophageal pressures. Ninety‐one percent of the tracheoesophageal speech failures were successfully rehabilitated and achieved fluent tracheoesophageal speech. Successful rehabilitation was associated with long‐term tracheoesophageal speech use.
Response to chemotherapy as justification for modification of the therapeutic strategy for pharyngolaryngeal carcinomas
Authors: Demard François , Chauvel Pierre , Santini José , Vallicioni Jacques , Thyss Antoine , Schneider Maurice 
Published: February 2007

AbstractFrom September 1983 to September 1987, 238 patients with squamous cell carcinoma of the upper aerodigestive tract were given 3 cycles of chemotherapy [cisplatinum (cis‐DDP), 100 mg/m2 on day 1; 5‐fluorouracil (5‐FU), 1,000 mg/m2 on days 2‐6] before any local treatment. Eighty‐one of these patients had pharyngolaryngeal cancer. Of the 45 of 50 laryngeal cancers and 26 of 31 hypopharyngeal cancers suitable for evaluation, complete responses (CR) were obtained in 51.1% and 53.8%, respectively. These response rates led to changes in the postchemotherapy protocols. For CRs, mutilating surgical protocols were replaced by definitive radiotherapy: one local recurrence has been observed among the 9 laryngeal cancers, and 3 of 10 hypopharyngeal cancer patients, who had an initial indication of total laryngectomy or total pharyngolaryngectomy replaced by radiotherapy. In the group of CR, survival rates at 2 years were 93% and 69%, respectively, for the larynx and hypopharynx vs 65.6% and 40% for non‐CR patients. The possibility of conservative treatment sparing vocal function with a high degree of reliability would in itself appear to be justification for induction chemotherapy in pharyngolaryngeal cancers, even though its long‐term effects remain controversial.
Postoperative radiotherapy for oral cavity cancers: Impact of anatomic subsite on treatment outcome
Authors: Zelefsky Michael J. , Harrison Louis B. , Fass Daniel E. , Armstrong John , Spiro Ronald H. , Shah Jatin P. , Strong Elliot W. 
Published: February 2007

AbstractWe have retrospectively reviewed the treatment results of postoperative radiotherapy (RT) for advanced oral cavity cancers. The purpose of this study was to determine the impact of anatomic subsite on the results of treatment. Between 1975 and 1985, 51 patients with squamous cell carcinoma of the oral tongue (OT = 29 patients) and floor of mouth (FOM = 22 patients) were treated with combined surgery plus RT. All had an indication(s) for RT including advanced primary disease (T3 or T4) (29 patients), close or positive margins (34 patients), and multiple positive neck nodes and/or extracapsular extension (41 patients). With a median follow‐up of 6 years, the 5‐year actuarial local control rate was 74% and the rate of distant metastasis (DM) was 34%. Despite the similar T stage, margin status and median RT dose, the 5‐year actuarial local failure rate was 38% for OT vs. 11% for FOM (ρ = 0.03). Furthermore, the median survival after recurrence was 9 months for OT and 40 months for FOM (ρ = 0.02). At 5 years the determinate survival for both sites was (55%), and the likelihood of developing a second malignancy was 31%. The likelihood of developing DM was 50% for FOM (NO‐N1 = 3 of 12, N2‐N3 = 8 of 10) and 21% for OT (NO‐N1 = 4 of 21, N2‐N3 = 1 of 8). This study highlights significant differences between FOM and OT cancers in response to combined surgery and RT. Future strategies should be directed at the enhancement of local control for OT and better systemic therapy for those with advanced N‐stage FOM. Second primary cancers were an even greater threat to survival than anticipated.
Esthesioneuroblastoma: Is there a role for elective neck treatment?
Authors: Beitler Jonathan J. , Fass Daniel E. , Brenner Harry A. , Huvos Andrew , Harrison Louis B. , Leibel Steven A. , Fuks Zvi 
Published: February 2007

AbstractA retrospective review of the Memorial Sloan Kettering Cancer Center experience (MSKCC) with esthesioneuroblastoma was performed. From 1975 to 1985 14 cases were identified. Overall 5‐ and 10‐year survival was 86% and 70%, respectively. Four local failures were observed and 4 neck failures were observed. A review of the literature since 1966 revealed an unexpectedly high incidence of neck failure, and of the 21 of 110 patients with neck failures that were identified through the literature, there were 6 subsequent deaths.
Oral cavity reconstruction: An objective assessment of function
Authors: Haribhakti Vijay V. , Kavarana Naozer M. , Tibrewala Anil N. 
Published: February 2007

AbstractThe prime objective of oral cavity reconstruction is restoration of function, which must be carefully studied while evaluating the success of any reconstructive endeavour. We devised a unique comprehensive test series for the purpose that is suitable for use in routine follow‐ups, and capable of providing objective documentation. Functional assessment included evaluation of general health, food intake, oral competence, mastication, speech, swallowing, tongue mobility, and shoulder–neck function. Fifty patients who had had surgery were analyzed and their functional scores compared with those of 10 normal volunteers. The extent of mandibular resection and the magnitude of soft tissue excision significantly affected overall scores of function. Oral competence, as reflected by the water holding test (WHT), was uniformly impaired in the 50 patients, and in dentate individuals, the quality of bolus provided good correlation with all other functional scores. Among reconstructive modalities employed here, the bi‐paddled pectoralis major flap produced the best overall scores.
Dynamic radiographic imaging following total laryngectomy
Authors: Muller‐Miny Heribert , Eisele David W. , Jones Bronwyn 
Published: February 2007

AbstractCinepharyngoesophograms of the pharynx were obtained in 51 patients after total laryngectomy for squamous cell carcinoma. The radiological findings were correlated with operative reports and follow‐up findings in 47 patients. Postoperative anatomic changes were well‐demonstrated radiographically. A spectrum of radiographic findings were observed and included narrowing at the superior surgical closure site in 52% and pseudodiverticula in 47% of all patients. Cricopharyngeal prominence was observed in 15%, fistulae in 10%, and pharyngeal pouches in 6% of all cases. Increased retropharyngeal soft tissue thickness was not found to be indicative of tumor recurrence. We conclude that cineradiography is a useful method for demonstrating both functional and structural changes following laryngectomy for carcinoma.
Squamous cell carcinoma of the oral cavity derived from a skin graft: A case report
Authors: Sa'do Banna , Nakamura Norifumi , Higuchi Yoshinori , Ozeki Satoru , Harada Hidemitsu , Tashiro Hideo 
Published: February 2007

AbstractA case of oral cancer that had derived from a 19‐year skin graft on the left buccal mucosa is reported. The patient had had three previous operations due to squamous cell carcinoma, erosion, and squamous cell carcinoma of the left buccal mucosa, respectively. In the last two operations, skin was transplanted, and the present cancer is believed to have derived from the latter one. The tumor was resected, and a new skin was grafted. In situ hybridization of human papilloma virus (HPV) was carried out; the HPV 16 DNA could not be detected in the specimen. Eight months later, a cervical lymph node metastasis was detected; thus, a radical neck dissection was performed. © 1994 John Wiley & Sons, Inc.
Relationship between vocal cord paralysis and benign thyroid disease
Authors: Collazo‐Clavell Maria L. , Gharib Hossein , Maragos Nicolas E. 
Published: February 2007

AbstractBackground. Vocal cord paralysis is generally associated with advanced thyroid malignancy. It may also be present in the setting of benign thyroid disease. This association may be incidental as well as causal.Methods. Retrospective review of cases with concurrent diagnosis of vocal cord paralysis and benign thyroid disease.Results. Eight cases found, all with documented vocal cord paralysis, by laryngoscopy. Four patients had nodular thyroid disease, but in two it was contralateral to the recurrent laryngeal nerve paralysis. The remaining patients had goiters of various sizes. Six patients were euthyroid, two on thyroid hormone replacement. Two patients were thyrotoxic: one had Graves' disease and the other had subacute thyroiditis.Conclusions. Vocal cord paralysis can be the result of benign thyroid disease by such mechanisms as compression, stretching, or inflammation. Malignant thyroid disease should always be ruled out in structural thyroid abnormalities. Vocal cord paralysis can also be an incidental finding unrelated to thyroid abnormality. © 1995 Jons Wiley & Sons, Inc.