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991.
Donald G. Sessions Gershon J. Spector Jason Lenox Sarah Parriott Bruce Haughey Clifford Chao James Marks Carlos Perez 《The Laryngoscope》2000,110(10):1764-1772
Objective This study reports the results of treating floor‐of‐mouth cancer with five different treatment modalities with long‐term follow‐up. Study Design Retrospective study of 280 patients with floor‐of‐mouth cancer treated in the Department of Otolaryngology—Head and Neck Surgery at Washington University Medical School (St. Louis, MO) from 1960 to 1994. Methods Patients with biopsy‐proven squamous cell carcinoma of the floor of mouth who were previously untreated were treated with curative intent by one of five modalities and were all eligible for 5‐year follow‐up. The treatment modalities included local resection alone, composite resection alone (with neck dissection), radiation therapy alone, local resection with radiation therapy, and composite resection with radiation therapy. Multiple diagnostic, treatment, and follow‐up parameters were studied using standard statistical analysis to determine statistical significance. Results The overall 5‐year disease‐specific survival (DSS) was 56% with death due to tumor in 44% of patients. The 5‐year cumulative disease‐specific survival (CDSS) was 0.61 (Kaplan‐Meier probability) with a mean of 8.3 years and a median of 9.7 years. The DSS by treatment modality included local resection (76%), composite resection (63%), radiation therapy (43%), local resection with radiation therapy (61%), and composite resection with radiation therapy (55%). Overall, there was no significant difference in DSS by treatment modality. Recurrence at the primary site (41%) was the most common site of treatment failure. Nineteen percent of patients had recurrence in the neck. Eighty‐eight percent of initial recurrences occurred within 60 months after the onset of treatment. Metastasis to a distant site occurred in 30% of patients. Twenty percent of these patients had second primary cancers, and 53% of these patients died of their second primary cancers. Conclusions Significantly improved 5‐year DSS was seen in the patients with clear margins, early clinical tumor stage, and negative nodes. Significantly decreased 5‐year survival was seen in the patients with involved margins, advanced clinical tumor stage, positive nodes, and tumor recurrence. Patients with no clinically positive nodes (cN0) can be observed safely for regional nodal disease and subsequent positive nodes can be treated as they occur with no adverse affect on survival. Because of high recurrence rates at the primary site and neck, and an increased rate of both distant metastasis and the development of second primary cancers, patients should be monitored closely for a minimum of at least 5 years. 相似文献
992.
Kirsten Barnicot Jennie Parker Sarah Kalwarowsky Eloise Stevens Jane Iles Paul Ramchandani Mike Crawford 《Psychology and psychotherapy》2023,96(2):480-503
Objectives
We explored mothers' and clinicians' experiences of a video feedback intervention adapted for perinatal ‘personality disorder’ (VIPP-PMH) and the acceptability of a randomised controlled trial (RCT) examining its effectiveness.Design
In-depth qualitative interviews with participants from a two-phase feasibility study of the VIPP-PMH intervention. Participants were mothers experiencing enduring difficulties in managing emotions and relationships, consistent with a ‘personality disorder’, and their 6- to 36-month-old children.Methods
Forty-four qualitative interviews were conducted, including all nine mothers receiving VIPP-PMH during the pilot phase, 25 of the 34 mothers participating in the RCT (14 allocated to the VIPP-PMH arm and 9 from the control arm), 11 of the 12 clinicians delivering VIPP-PMH and one researcher. Interview data were thematically analysed.Results
Mothers described feeling motivated to take part in the research and understood the need for randomisation. Research visits were largely experienced positively, with some suggestions for improvement in questionnaire timing and accessibility. Almost all mothers initially felt anxious about being filmed, but reported positive experiences of the intervention, particularly valuing its non-judgemental, positive and child-focussed nature, their supportive relationship with the therapist and the insights they gained on their child.Conclusions
The findings indicate the likely feasibility and acceptability of undertaking a future definitive RCT of the VIPP-PMH intervention in this population. In designing a future trial, a positive and non-judgemental therapeutic relationship will be important to allay mothers' anxieties about being filmed, and careful consideration should be given to the timing and accessibility of questionnaires used. 相似文献993.
994.
Clémence Jacquin Emilie Landais Céline Poirsier Alexandra Afenjar Ahmad Akhavi Nathalie Bednarek Caroline Bénech Adeline Bonnard Damien Bosquet Lydie Burglen Patrick Callier Sandra Chantot-Bastaraud Christine Coubes Charles Coutton Bruno Delobel Margaux Descharmes Jean-Michel Dupont Vincent Gatinois Nicolas Gruchy Sarah Guterman Abdelkader Heddar Lucas Herissant Delphine Heron Bertrand Isidor Pauline Jaeger Guillaume Jouret Boris Keren Paul Kuentz Cedric Le Caignec Jonathan Levy Nathalie Lopez Zoe Manssens Dominique Martin-Coignard Isabelle Marey Cyril Mignot Chantal Missirian Céline Pebrel-Richard Lucile Pinson Jacques Puechberty Sylvia Redon Damien Sanlaville Marta Spodenkiewicz Anne-Claude Tabet Alain Verloes Gaelle Vieville Catherine Yardin François Vialard Martine Doco-Fenzy 《American journal of medical genetics. Part A》2023,191(2):445-458
Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1. The 1p36DS is characterized by typical craniofacial features, developmental delay/intellectual disability, hypotonia, epilepsy, cardiomyopathy/congenital heart defect, brain abnormalities, hearing loss, eyes/vision problem, and short stature. The aim of our study was to (1) evaluate the incidence of the 1p36DS in the French population compared to 22q11.2 deletion syndrome and trisomy 21; (2) review the postnatal phenotype related to microarray data, compared to previously publish prenatal data. Thanks to a collaboration with the ACLF (Association des Cytogénéticiens de Langue Française), we have collected data of 86 patients constituting, to the best of our knowledge, the second-largest cohort of 1p36DS patients in the literature. We estimated an average of at least 10 cases per year in France. 1p36DS seems to be much less frequent than 22q11.2 deletion syndrome and trisomy 21. Patients presented mainly dysmorphism, microcephaly, developmental delay/intellectual disability, hypotonia, epilepsy, brain malformations, behavioral disorders, cardiomyopathy, or cardiovascular malformations and, pre and/or postnatal growth retardation. Cardiac abnormalities, brain malformations, and epilepsy were more frequent in distal deletions, whereas microcephaly was more common in proximal deletions. Mapping and genotype–phenotype correlation allowed us to identify four critical regions responsible for intellectual disability. This study highlights some phenotypic variability, according to the deletion position, and helps to refine the phenotype of 1p36DS, allowing improved management and follow-up of patients. 相似文献
995.
Amber Bolli Bede Nriagu Allison D. Britt Anjali D. Toole James Treat Abhay Srinivasan Sarah E. Sheppard 《American journal of medical genetics. Part A》2023,191(5):1442-1446
Capillary malformations are slow-flow vascular malformations that affect the microcirculation including capillaries and post capillary venules and can be associated with growth differences. Specifically, the association of capillary malformations with undergrowth is a vastly understudied vascular syndrome with few reports of genetic causes including PIK3CA, GNAQ, and GNA11. Recently, a somatic pathogenic variant in AKT3 was identified in one child with a cutaneous vascular syndrome similar to cutis marmorata telangiectatica congenita, undergrowth, and no neurodevelopmental features. Here, we present a male patient with a capillary malformation and undergrowth due to a somatic pathogenic variant in AKT3 to confirm this association. It is essential to consider that mosaic pathogenic variants in AKT3 can cause a wide spectrum of disease. There is a need for future studies focusing on capillary malformations with undergrowth to understand the underlying mechanism. 相似文献
996.
Sarah Wang Lina Patel Elise A. Sannar Mellad Khoshnood Natalie K. Boyd Lorena Mendez Noemi A. Spinazzi Eileen A. Quinn Michael S. Rafii Jonathan D. Santoro 《American journal of medical genetics. Part A》2023,191(7):1769-1782
Down syndrome regression disorder (DSRD) is a clinical symptom cluster of acute or subacute neurocognitive regression in otherwise health persons with Down syndrome. The objective of this study was to evaluate if adverse childhood experiences (ACEs) were more prevalent in children with DSRD than those with DS alone. A survey-based, cohort-based study was performed. Caregivers of individuals with DSRD with onset of symptoms between age 10 and 30 years and DS alone were administered the ACEs questionnaire via an online REDCap survey. A total of 159 responses were collected after excluding incomplete surveys and those not meeting criteria for DSRD. Individuals with DSRD were not more likely to experience ACEs (p = 0.18, 95% confidence interval [CI]: 0.43–1.17). In those with ACEs prior to the onset of symptoms, the median time prior was 7 months (interquartile range: 5–10). Individuals with DSRD were more likely to report three or more ACEs (52, 33%) compared to those with DS alone (39, 22%) (p = 0.02, 95% CI: 1.08–2.87). Exposure to ACEs were not predictive of response to particular therapeutic interventions although those with multiple ACEs 3 months prior to the onset of symptoms was associated with lower response rates to benzodiazepines and immunotherapy (p = 0.02, 95% CI: −3.64–−1.13). This study provides preliminary data that individuals with DSRD experience ACEs at a similar rate to individuals with only DS alone, although three or more ACEs, often preceding the onset of symptoms, was more prevalent in individuals with DSRD. 相似文献
997.
Helen C Jackson Andrew M Needham Lisa J Hutchins Sarah E Mazurkiewicz David J Heal 《British journal of pharmacology》1997,121(8):1758-1762
- The effects of the potent 5-hydroxytryptamine (5-HT) and noradrenaline reuptake inhibitor (serotonin-noradrenaline reuptake inhibitor, SNRI), sibutramine, on the cumulative food intake of freely-feeding male Sprague-Dawley rats during an 8 h dark period were investigated and compared to those of the selective 5-HT reuptake inhibitor (selective serotonin reuptake inhibitor, SSRI), fluoxetine; the selective noradrenaline reuptake inhibitor, nisoxetine; the 5-HT and noradrenaline reuptake inhibitors, venlafaxine and duloxetine; and the 5-HT releaser and 5-HT reuptake inhibitor, (+)-fenfluramine.
- Sibutramine (3 and 10 mg kg−1, p.o.) and (+)-fenfluramine (1 and 3 mg kg−1, p.o.) produced a significant, dose-dependent decrease in food intake over the 8 h dark period. These responses became apparent within the first 2 h following drug administration.
- Fluoxetine (3, 10 and 30 mg kg−1, p.o.), and nisoxetine (3, 10 and 30 mg kg−1, p.o.) had no significant effect on food intake during the 8 h dark period. However, a combination of fluoxetine and nisoxetine (30 mg kg−1, p.o., of each) significantly decreased food intake 2 and 8 h after drug administration.
- Venlafaxine (100 and 300 mg kg−1, p.o.) and duloxetine (30 mg kg−1, p.o.) also significantly decreased food intake in the 2 and 8 h following drug administration.
- The results of this study demonstrate that inhibition of 5-HT and noradrenaline reuptake by sibutramine, venlafaxine, duloxetine, or by a combination of fluoxetine and nisoxetine, markedly reduces food intake in freely-feeding rats and suggest that this may be a novel approach for the treatment of obesity.
998.
Emanuele Santoro C. Tirelli F. Scutari A. Garofalo G. Silecchia M. Scaccia Eugenio Santoro 《Diseases of the colon and rectum》1994,37(2):S73-S80
We herein present a study conducted on 14 patients presenting cancer of the lower rectum or of the anal canal (10 adenocarcinomas and 4 squamous-cell carcinomas) and submitted to the Miles abdominal perineal resection in which a new perineal sphincter was constructed. PURPOSE: The aim of this study was to evaluate the efficacy of this new perineal sphincter constructed by transposing the gracilis muscles around an orthotopic colostomy in the attempt to avoid a permanent abdominal colostomy. METHODS: In all cases both gracilis muscles were employed. The right one was placed along the posterior wall of the pelvis and fixed to the controlateral ischiatic tuberosity, creating a sling comparable to the levator ani muscles. The left gracilis was passed around the colon and attached to the ipsilateral or controlateral tuberosity according to its length, reconstructing a muscular ring. The entire procedure was performed in one step in nine cases and in more steps in the remaining five. RESULTS: Of the 14 operated patients, 2 died of vascular disease and 1 developed necrosis of the colonic stump which required reconversion to an abdominal colostomy. Of the remaining 11 patients available for long-term evaluations, 8 showed adequate stool control. The remaining three manifested an incomplete level of continence. During the three-year follow-up period, all patients were evaluated by clinical examination, defecography, endoluminal ultrasonography, nuclear magnetic resonance, CT scan, and endoluminal manometry. CONCLUSION: This neosphincter realizes an elastic stenosis responsible for an efficient level of continence. Best results are observed in the young and educated patients submitted to surgery in two steps. Contraindications to this surgery seem to be advanced cancer, old age, and obesity. 相似文献
999.
Sergio Stipa Luigi Chiavellati Virgilio Nicolanti Francesco Stipa 《Diseases of the colon and rectum》1994,37(2):S81-S85
PURPOSE: We herein report our experience with transanal endoscopic microsurgery. The new technique combines an endoscopic view and access of the rectum under gas insufflationviaa stereoscopic telescope with all conventional surgical maneuvers such as tissue preparation, coagulation and control of bleeding, irrigation, suction, and, finally, suturing of the parietal defect. METHODS: The main indication for transanal endoscopic microsurgery is the removal of broad-based sessile polyps and excision of early rectal cancers. We performed local excision of pT2, G1-2 adenocarcinomas and excision of advanced rectal cancer in high-risk patients. The reported series includes 35 consecutive patients, who have been enrolled in a prospective clinical trial. Five patients were excluded for different reasons. The patients were submitted to 29 total wall excisions with or without perirectal fat and one mucosectomy. RESULTS: Postoperative histologic examination showed 9 adenomas and 21 adenocarcinomas. Morbidity included 2 (5.6 percent) perioperative and 2 (5.6 percent) late complications. There was no operative mortality and the mean postoperative hospital course was six days. All patients are in follow-up observation with a mean time of 10.3 months. In the group of adenomas and adenocarcinomas, we did not observe local recurrence. CONCLUSIONS: Considering our experience with the overall results reported by other authors, we believe that transanal endoscopic microsurgery is the procedure of choice for the treatment of rectal polyps and early rectal cancers provided strict patient selection criteria are met. 相似文献
1000.
Mark Linzer Thomas Slavin Sunita Mutha John I. Takayama Luis Branda Selma Vaneyck Julia E. Mcmurray Howard K. Rabinowitz the SGIM Task Force on Career Choice in Primary Care Internal Medicine 《Journal of general internal medicine》1994,9(1):S14-S23
As the country strives to produce larger numbers of generalist physicians, considerable controversy has arisen over whether or not generalist applicants can be identified, recruited, and influenced to keep a generalist-oriented commitment throughout medical training. The authors present new and existing data to show that: 1) preadmission (BA/MD or post-baccalaureate) programs can help to identify generalist-oriented students; 2) characteristics determinedat admission to medical school are predictive of future generalist career choice; 3) current inpatient-oriented training programs strongly push students away from a primary care career; 4) women are more likely than men to choose generalist careers, primarily because of those careers’ interpersonal orientation; and 5) residency training programs are able to select applicants likely to become generalists. Therefore, to produce more generalists, attempts should be made to encourage generalist-oriented students to enter medical schools and to revise curricula to focus on outpatient settings in which students can establish effective and satisfying relationships with patients. These strategies are most likely to be successful if enacted within the context of governmental and medical school-based changes that allow for more reimbursement and respect for the generalist disciplines. 相似文献