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1.
A 3.3 year old girl with Prader-Willi syndrome (PWS) and mosaicism for two aneuploidies, 47,XXX and 47,XX,+15, is presented. The triplo-X cell line was found in white blood cells and fibroblasts, the trisomy 15 cell line in 50% of the fibroblasts. Using methylation studies of the PWS critical region and by polymorphic microsatellite analysis, the existence of uniparental maternal heterodisomy for chromosome 15 was shown in white blood cells. This provided a molecular explanation for the PWS in this child. In fibrolasts, an additional paternal allele was detected for markers on chromosome 15, which is in agreement with the presence of mosaicism for trisomy 15 in these cells. This example provides direct evidence for trisomic rescue by reduction to disomy as a possible basis for PWS. Whereas the trisomy 15 was caused by a maternal meiosis I error, the triplo-X resulted from a postzygotic gain of a maternal X chromosome, as shown by the finding of two identical maternal X chromosomes in the 47,XXX cell line. Because the triplo-X and the trisomy 15 were present in different cell lines, gain of an X chromosome occurred either in the same cell division as the trisomy 15 rescue or shortly before or after.  相似文献   

2.
Owing to the frequent variation in steel grades,plate dimensions,mill pacing,and mill working conditions,the zero point of a plate mill fluctuates accordingly,potentially leading to incorrect plate thickness results.Using the actual measured thickness curve data,a zero-point correction model was developed based on lot classifications with respect to the steel grade,dimensions,and last-pass rolling force.The application of this model achieves enhanced variation prediction of the zero point and improved plate-thickness control.  相似文献   

3.
Eight consecutive patients, mean age 17.25 years, underwent a medial displacement osteotomy and hip arthrodesis with a nine-hole Cobra plate. A transverse innominate osteotomy facilitated medial displacement of the femoral head and acetabulum. Alignment of the lower limb at 25 degrees flexion, neutral abduction, and neutral rotation was assisted by a long-limbed protractor and Steinmann pins placed in both anterior superior iliac spines. The greater trochanter was reattached to the Cobra plate so that hip abductor function could be restored should the fusion ever be converted to an arthroplasty. No postoperative immobilization was required. All patients had radiographic evidence of union by 12 months. One patient had a postoperative brachial plexus neuropraxia that resolved at three months. One patient required an ipsilateral femoral lengthening for limb-length inequality secondary to collapse of his femoral head before hip fusion. At a mean follow-up interval of 2.8 years (range, one to 4.5 years), all patients had significant improvements in pain (p < 0.05), function (p < 0.01), and gait (p < 0.01). The average preoperative Harris Hip Score of 45 points +/- 8 points (mean +/- SEM) improved to 84 points +/- 2 points (p < 0.01).  相似文献   

4.
Measurements of the vertical component of ground reaction force (ORF) and dynamic center of pressure (COP) were recorded for five subjects with midfoot level amputations and six with Syme's ankle disarticulation amputations. All of the subjects underwent amputation surgery as a consequence of peripheral vascular disease and diabetes. GRF measurement was accomplished with the F-Scan system (Tekscan, Boston, MA). Each group exhibited a consistent, reproducible pattern of gait. Subjects with Syme's ankle disarticulation initiated initial loading response, i.e., heel strike, with a concentration of GRF in the center of the anatomic heel. COP progressed along the midline to the center of the anatomic forefoot, where GRF was concentrated at push-off. Midfoot amputees initiated loading at the lateral-posterior heel. COP progressed medially to the midline, where it progressed distally to the level of the distal residual limb (proximal metatarsal metaphyses). It then shifted medially under the base of the first metatarsal, where a small concentration of GRF occurred at push-off, similar to the normal foot. These findings explain the decreased magnitude of propulsion seen in midfoot level amputees and may explain the seemingly paradoxical increased metabolic cost of walking observed in midfoot amputees as compared with Syme's ankle disarticulation amputees.  相似文献   

5.
The possibility of modification of the surface layers of cast plates of an antifriction AK9 aluminum alloy by electric-arc melting in a magnetic field is studied. The structure and mechanical and triboengineering properties of the AK9 alloy are studied in the initial as-cast state and after modification. It is shown that a fourpole magnetic system can control the sizes of the surface melting zone (width, depth) and the structural dispersity. The mechanical and triboengineering characteristics of the samples after processing are improved as compared to the initial material.  相似文献   

6.
Nonexcision triple arthrodesis is proposed as a simple operation to relieve pain and stabilize the hindfoot. It was successful in seven of nine patients as a salvage procedure. Its further use is recommended.  相似文献   

7.
A 38-year-old woman who had a recent injury resulting in T-3 Frankel Class C paraplegia and a comminuted fracture of the right elbow is described in this case report. The elbow required an arthrodesis, but the position in which the elbow should be fused was not initially known. To illustrate to the rehabilitation team and the patient the advantages and disadvantages of each of two elbow positions under consideration for the arthrodesis, the author recruited an individual with paraplegia to demonstrate some activities of daily living with two elbow splints that stimulated the two positions of fusion being considered. The patient and the rehabilitation team concluded that the 30-degree flexion fusion offered more functional mobility than the 90-degree flexion fusion. At the completion of her initial rehabilitation, the patient was a full-time manual wheelchair user. She was independent in all self-care and transfers, including uneven transfers to heights of 22.9 cm (9 in) over and 45.7 (18 in) lower than the wheelchair seat. She drives a four-wheel-drive vehicle and is independent in stowing her wheelchair.  相似文献   

8.
Arthrodesis of the knee may be indicated for the reconstruction after resection of tumor around the knee. Since the introduction of this technique, resection arthrodesis using segmental autogenous grafts has been the principal method of reconstruction. From August 1967 to February 1985, 73 patients underwent resection arthrodesis using autogenous grafts. All procedures were performed for malignant or potentially malignant lesions. Ten-year followup was available on 40 patients. The reconstructive procedure was performed using an intramedullary rod and hemicortical femoral or tibial grafts with a single autogenous nonvascularized fibula or with dual nonvascularized fibulae. Despite a high surgical complication rate, the majority of patients achieved successful limb salvage. Independent ambulation was achieved by 86% of the patients. A Musculoskeletal Tumor Society functional evaluation in 32 available patients at a mean of 17 years showed the majority of patients functioning satisfactorily. Long-term followup of these patients shows continued durability of the reconstruction and a persistent high level of function and patient satisfaction. Resection arthrodesis using massive autogenous grafts should continue to be in the armamentarium of the orthopaedic oncologist.  相似文献   

9.
To better understand the bony component of pes planus and the means by which the Evans calcaneal lengthening corrects them, we studied the standing radiographs of seven adult patients who had undergone calcaneal lengthening to treat symptomatic pes planus. Weightbearing AP and lateral views done preoperatively and postoperatively were used for the study. For each set of films, the following parameters were measured: on the lateral view; overall length of the calcaneus, lateral talometatarsal angle, lateral talocalcaneal angle, and the calcaneal pitch angle; and on the dorsoplantar view, the talometatarsal and talocalcaneal angle. In addition, the relative coverage of the talus by the navicular was described by an angular measurement based on the relationship of the center of the talus to the center of the navicular. The average improvements in lateral talocalcaneal angle (a reflection of hindfoot valgus) was 6.4 degrees when the long axis of the calcaneus was used and 6.8 degrees when the inferior surface of the calcaneous was used for the measurement. The lateral talometatarsal angle improved an average 11.3 degrees (from an average of 19.7 degrees to 8.4 degrees). The dorsoplantar talometatarsal angle (a measure of forefoot adduction/abduction) improved 15.8 degrees (preoperative average 26.8 degrees, postoperative average 11 degrees). The calcaneal pitch angle improved an average 10.8 degrees (preoperative average 3.2 degrees, postoperative average 14 degrees). The relationship between the talus and navicular was defined by an angular measurement based on the center of each articular surface before and after correction using this measurement. An average improvement of 26 degrees occurred in the alignment of these two articular surfaces.(ABSTRACT TRUNCATED AT 250 WORDS)  相似文献   

10.
Authors describe their own modification of intubation of lacrimal system, which they developed on the island of Malta. They used usual instruments for probing with addition of venous catheter and silicone rod. This technique was used on 40 patients in three diagnostic groups. The best results were achieved in congenital obstructions in children and traumatic lacerations of lacrimal system, where 100% success was achieved. The success rate in adult patients with acquired obstructions was about 60%. The complications rate was very low. Advantage of this modification is low costs, easy availability of instruments and gentleness towards nasal mucosa.  相似文献   

11.
When the medial third of the upper or lower eyelid has to be reconstructed after full-thickness tumour excision, we usually use Hübner tarsomarginal grafts, but when medial canthal lesions spread to the medial orbital wall without invading the orbital margin, conchal graft becomes our first surgical option. Previously reported solutions to this difficult problem are few and concern more directly medial orbital wall fractures. We found no article dealing specifically with the use of conchal graft in post-ablative reconstruction of the medial orbital wall. Nevertheless the concha presents great advantages over bone grafting or rib cartilage, because it is more flexible and malleable. And it is less prone to extrusion or infection as may be allografts implants. It is a very effective way to repair medial orbital defects, but graft reorientation must be perfect to match exactly the medial orbital wall concavity.  相似文献   

12.
An interdisciplinary review of 16 ventilator-assisted, cervical-cord injured youth, aged 3-19 years, was completed to explore long-term outcomes and develop recommendations for care. Ten youths were younger than 12 years; 6 were adolescents. The mean initial hospital length of stay was 192 days. Discharged youths were followed for 1-73 months after hospitalization. Nursing implications were developed using a systems approach with North American Nursing Diagnosis Association (NANDA) approved diagnoses. Nursing case management was used to coordinate discharge planning and continuity of care. At the time of data collection 13 youths had been successfully reintegrated to home, school and community, the least restrictive environments for all.  相似文献   

13.
14.
To reveal any association between the histological type and grade of intraductal breast neoplasms and the manner of accumulation of gene alterations, eight types of gene alterations, i.e., loss of heterozygosity (LOH) on chromosomal arms 16p, 16q, 17p, 17q, and 18q, amplification of the c-erbB-2 and hst-1/int-2 genes, and mutation of the p53 gene, were examined by Southern blot analysis or single-strand conformation polymorphism analysis in a total of 60 cases of intraductal breast cancer and 18 nonmalignant proliferative lesions. Among the histological types and three histological grade groups of intraductal carcinomas, the gene alterations which occurred most frequently were LOH on 16q alone in non-comedo type and Grade 1, alterations of c-erbB-2, 17p, and 16q in comedo type and Grade 2, and alterations of 17q and p53 as well as those of 16q, 17p, and c-erbB-2 in Grade 3. LOH on 16q and 18q was frequent in intraductal carcinoma of the intracystic papillary type, whereas LOH on 18q alone was detected in 27% of papillomas. Among intraductal carcinomas, the mean number of gene alterations was largest in comedo type and Grade 3, whereas it was smallest in non-comedo type and Grade 1. It was possible that LOH on 18q and 16q was involved frequently in papillary tumori-genesis and acquisition of malignant phenotype, respectively, whereas most of the other gene alterations were involved in acquisition of aggressive biological properties by intraductal carcinoma cells. It was also possible that the phenotype of breast neoplasms was determined by the combination of gene alterations at a relatively early developmental stage.  相似文献   

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17.
Risk factor for invasive pulmonary aspergillosis in HIV-negative patients include neutropenia, corticosteroid therapy, and chemotherapy. Corresponding risk factors in HIV-positive patients have not yet been reported. A case-control study was conducted at the Bichat-Claude Bernard Teaching Hospital, Paris, France, between 1991 and 1996. Eight cases were identified. In three cases, the diagnosis was documented histologically. Of the remaining five patients, four had a de novo lung cavity with a positive bronchoscopy sample, and one had a pulmonary infiltrate with a positive bronchoscopy sample in the absence of any other potential pathogen. Each case was matched with three controls who were admitted during the same period and had CD4 counts lower than 50/mm3. Median age was 38.1 years in the cases and 38.4 years in the controls. Median CD4 counts were 12.5 +/- 19.2 in the cases versus 19.3 +/- 16.3 in the controls (P = 0.14). No case-control differences were found for AIDS duration, neutrophil counts at diagnosis or during the previous six months, history of corticosteroid therapy or chemotherapy, or number of previous opportunistic infections. Cases were more likely than controls to have a preexisting lung cavity (3/8 versus 0/24; P = 0.01) and had spent more time in the hospital during the previous year (7 +/- 4.5 versus 2.8 +/- 3.2 weeks; P = 0.02). These data do not support a role for neutropenia or immunosuppressive treatments as risk factors for invasive aspergillosis in AIDS. They suggest that AIDS patients with a lung cavity or frequent hospital stays are at increased risk for invasive aspergillosis.  相似文献   

18.
In recent years there has been an increased interest in the development of neuropsychological tests that can diagnose accurately brain damage. The most successful of these test are represented in the Halstead-Reitan Neuropsychological Battery, which has been shown to be 90% or more effective in the diagnosis of brain damage. However, this battery is not available to many psychologists or clients because of its length, cost, and the considerable background required to use it properly. The present study tested 121 Ss (30 normal, 91 brain-damaged) to develop an abbreviated version of the battery that is relatively brief (1 hour) and inexpensive, but accurate. It was found by discriminant analysis that the abbreviated battery is capable of diagnosing brain damage equally as well as the full battery 93% of the time. The limitations and advantages of the abbreviated battery are discussed.  相似文献   

19.
The mu-opioid receptor (mu-OR), like most G-protein-coupled receptors, is rapidly internalized after agonist binding. Although opioid peptides induce internalization in vivo, there are no studies that demonstrate mu-OR internalization in response to natural stimuli. In this study, we used laser-scanning microscopy to demonstrate that estrogen treatment induces the translocation of mu-OR immunoreactivity (mu-ORi) from the membrane to an internal location in steroid-sensitive cell groups of the limbic system and hypothalamus. Estrogen-induced internalization was prevented by the opioid antagonist naltrexone, suggesting that translocation was largely dependent on release of endogenous agonists. Estrogen treatment also altered the pattern of mu-ORi at the bright-field light microscopic level. In the absence of stimulation, the majority of immunoreactivity is diffuse, with few definable mu-OR+ cell bodies or processes. After stimulation, the density of distinct processes filled with mu-ORi was significantly increased. We interpreted the increase in the number of mu-OR+ processes as indicating increased levels of internalization. Using this increase in the density of mu-OR+ fibers, we showed that treatment of ovariectomized rats with estradiol benzoate induced a rapid and reversible increase in the number of fibers. Significant internalization was noted within 30 min and lasted for >24 hr after estrogen treatment in the medial preoptic nucleus, the principal part of the bed nucleus, and the posterodorsal medial amygdala. Naltrexone prevented the increase of mu-OR+ processes. These data imply that estrogen treatment stimulates the release of endogenous opioids that activate mu-OR in the limbic system and hypothalamus providing a "neurochemical signature" of steroid activation of these circuits.  相似文献   

20.
A new technique to achieve a reliable fusion of the hip joint through an anterior approach with use of a ventral low contact dynamic compression plate and a lateral 6.5 mm lag screw is presented in detail. The advantages of this technique are that the approach does not jeopardize the vascularity of the femoral head, that the fixation on the pelvic side uses the strong bone stock of the sciatic buttress, and that the hip abductor muscles and greater trochanter are preserved. The authors also present the indications and the results of their experience with 12 patients. The followup period averaged 24.8 months (range, 10-42 months). Ten patients (83%) achieved a solid fusion by radiologic and clinical criteria. Although a moderately symptomatic nonunion developed in 1 patient, another patient went on to a painful nonunion to whom another attempt for fusion has been recommended. According to the hip score of Merle d'Aubigné and Postel, the average figures for pain and ambulation increased from 3.2 points to 5.0 points and from 2.7 points to 4.5 points, respectively, after surgery. Six of the 12 patients regained the ability to work in their former jobs or in new occupations. Eight patients felt no or minor restrictions in doing their former sports activities. Patient satisfaction was high with a majority reporting minor discomfort mainly around the fused hip.  相似文献   

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