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41.
Nonsyndromic Early‐Onset Cone‐Rod Dystrophy and Limb‐Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF 下载免费PDF全文
42.
Yona Kosashvili Oleg Safir Allan Gross Guy Morag Dror Lakstein David Backstein 《International orthopaedics》2010,34(2):249-254
Distal femoral varus osteotomy (DFVO) may be indicated for symptomatic lateral compartment gonarthrosis associated with valgus
deformity in younger, active patients. Thirty-three consecutive DFVOs (31 patients) with a minimum follow-up of ten years
(mean 15.1, range 10–25) were reviewed. Fifteen DFVOs were converted to total knee arthroplasty (TKA) and one DFVO was awaiting
TKA, reaching an overall failure rate of 48.5% at a mean of 15.6 years (range 6–21.5). Of the remaining 17 DFVOs, ten (58.8%)
had good or excellent results, two (11.8%) had fair results and five (29.4%) had poor results. Mean modified Knee Society
scores improved significantly (p < 0.01) from 36.8 preoperatively to 77.5 at one year post DFVO. DFVO is a viable treatment alternative for lateral compartment
gonarthrosis. Conversion to TKA is expected to be required in approximately half of the patients at a mean of 15.6 years. 相似文献
43.
Spiegelmann R Nissim O Menhel J Alezra D Pfeffer MR 《Neurosurgery》2002,51(6):1373-79; discussion 1379-80
OBJECTIVE: A retrospective study to evaluate the efficacy and side effects of linear accelerator radiosurgery in the treatment of cavernous sinus meningiomas. METHODS: Between 1993 and 2001, 42 patients with meningiomas involving the cavernous sinus underwent linear accelerator radiosurgery at our institution. A mean radiation dose of 14 Gy was delivered to the tumor margin. The median tumor volume was 8.2 cm3 (mean, 8.4 cm3). Median follow-up was 36 months (mean, 38 mo). RESULTS: Control of tumor growth was achieved in 97.5% of the patients. There was no mortality or permanent extraocular motor or pituitary dysfunction. Treatment-related complications included new trigeminal neuropathy in 4.7% and a new visual field defect in 2.8%. Two patients required shunt placement after developing hydrocephalus. One patient with symptomatic temporal lobe edema underwent partial excision of the tumor. Improvement of existing cranial neuropathies was noted in 29% of affected trigeminal nerves, in 22% of oculomotor nerves, and in 13% of Cranial Nerves IV and VI. CONCLUSION: This study indicates that linear accelerator radiosurgery can achieve a high control rate of meningiomas involving the cavernous sinus with no mortality and a low incidence of morbidity. 相似文献
44.
Sharon D Yamamoto H McGee TL Rabe V Szerencsei RT Winkfein RJ Prinsen CF Barnes CS Andreasson S Fishman GA Schnetkamp PP Berson EL Dryja TP 《Investigative ophthalmology & visual science》2002,43(6):1971-1979
PURPOSE: To study the possible involvement of the rod (SLC24A1) and cone (SLC24A2) Na-Ca+K exchanger (NCKX) genes in retinal diseases. METHODS: DNA was collected from unrelated patients with retinal disease, mainly from North America. A human genomic library was screened with the cone NCKX cDNA, and hybridizing clones were sequenced to determine the genomic organization of the SLC24A2 gene. The single-strand conformation polymorphism (SSCP) technique and direct sequencing were used to screen the patients' DNA for mutations in SLC24A1 and SLC24A2. The effect of selected missense changes on protein function was tested by measuring potassium-dependent Na-Ca exchange of the mutant proteins expressed in insect cells. RESULTS: Twenty-seven novel sequence changes were found in the rod NCKX gene, 21 of which are unlikely to be pathogenic, because they did not cosegregate with the disease or did not affect conserved regions of the protein. Of the remaining six, two were frameshift mutations found in one patient each. If translated, these alleles would encode nonfunctional proteins. Three of the six possibly pathogenic mutations were missense changes located in conserved regions, and their protein functions were assayed. Only one (Ile992Thr) had a significantly low level of exchanger function, but it was found in two unrelated patients who were heterozygotes with different retinal diseases, and this mutation could not be unequivocally associated with either disease. The last of the six changes is likely to create a new splice acceptor site. The genomic organization of the cone NCKX gene was determined, and it contained 11 exons with a few splice variants. Fifteen novel sequence changes were identified in the cone exchanger gene in patients with a cone dysfunction or degeneration. Only three of these sequence changes, all missense changes found in heterozygous patients, were considered possibly pathogenic. Functional analysis showed only a slight reduction in the activity of the corresponding mutant proteins. CONCLUSIONS: Although variant alleles of the rod and cone NCKX genes were found, none could be definitively associated with a specific retinal disease. The human phenotype associated with mutant exchanger alleles remains unknown. 相似文献
45.
The purpose of this cohort study is to evaluate the objective long-term findings and the final outcome of a population suffering from whiplash-associated disorders (WAD) after rear-end car collision and claiming legal compensation. Eight hundred and sixty-six patients after whiplash injury were followed up on average 32 months post-trauma. All patients had clinical examination and radiographs performed on the day of the accident and at follow up. MRI, CT scan, bone scan, electromyographic (EMG) tests were performed upon request of the treating physician and correlated by the authors with the clinical findings. Cervical pain was the most common complaint (96%). Radiating pain to one side of the upper limbs or the shoulder was also very common (36 and 24%, respectively). Chin to chest test was found to be a strong indicator in differentiating between the less severe (grades 1 and 2) to more severe (grades 3 and 4) WAD patients. In 10% of the patients with normal radiographic findings, degenerative changes were found at follow up. CT scan and MRI did not add to patient diagnosis, except for those patients suffering from degenerative changes and decreased range of motion (RoM). Based on our findings the initial radiograph taken in the emergency room was the best imaging modality and probably the only one needed routinely following whiplash injury. Although this is a special subgroup of patient seeking compensation, the overall prognosis is favorable in all grades of WAD injury and there is no need for further diagnostic expenditures. 相似文献
46.
47.
Significance of secondary ultrasonographic endometrial thickening in postmenopausal tamoxifen-treated women 总被引:7,自引:0,他引:7
BACKGROUND: Ultrasonography has a limited value in endometrial assessment for identification of endometrial pathologies in postmenopausal tamoxifen-treated patients. METHODS: We compared the rate of endometrial pathologies and the mean +/- SD of endometrial thickness diagnosed after the first and second transvaginal ultrasonographic studies performed on 55 postmenopausal tamoxifen-treated patients with secondary endometrial thickening (Group I). This rate was also compared with 46 similar patients without secondary thickening (Group II). We also compared the mean +/- SD of endometrial thickness detected in various ultrasonographic studies, as well as various clinical features. RESULTS: A significantly higher rate of endometrial pathologies, including two cases of endometrial cancer identified in gynecologically asymptomatic patients (3.6%), was diagnosed in Group I after the second study compared with the first study (52.7% and 9.1%, respectively; P = 0.001) and compared with those diagnosed after the second study in Group II (30.4%; P = 0.03). There was a significant increase (74.7 +/- 115%) in endometrial thickness after the second study compared with the first study performed on Group I (10.7 +/- 5.53 mm and 16.59 +/- 5.53 mm, respectively; P = 0.0001) and a significant difference in endometrial thickness demonstrated in the second study performed on Groups I and II (16.59 +/- 5.53 mm and 11.4 +/- 3.91 mm, respectively; P = 0.001).There were no significant differences in the time elapsed since the diagnosis of breast carcinoma and from the beginning of tamoxifen treatment to the performance of the first ultrasonographic study as well as the time elapsed between the first and second studies performed. CONCLUSIONS: A significant increase (> 50%) in secondary endometrial thickening, measured ultrasonographically, in postmenopausal tamoxifen-treated patients, is associated with a high rate of endometrial pathologies, including endometrial cancer. 相似文献
48.
Dror Tal Liran Domachevsky Ronen Bar Yochai Adir Avi Shupak 《Otology & neurotology》2005,26(6):1204-1207
OBJECTIVE: To present a case series of vestibular symptoms appearing after combined sailing and diving activity, and to discuss the differential diagnosis and the workup algorithm. STUDY DESIGN: Case series. SETTING: Tertiary referral center. PATIENTS: Three patients aged 25 to 31 years suffering from unsteadiness and movement sensations after sailing and scuba diving. INTERVENTIONS: Neurotologic evaluation and recompression therapy in a hyperbaric chamber. MAIN OUTCOME MEASURES: The increasing popularity of marine sports and leisure activities has resulted in the exposure of a growing number of people to unique abnormalities not encountered under terrestrial conditions. The otolaryngologist who is involved in the care of these patients is required to diagnose and treat diving-related sinus and ear injuries such as barotrauma and decompression sickness, and also to be familiar with sailing-related disorientation syndromes such as seasickness and mal de debarquement. Treatment modalities for the various abnormalities differ significantly, and early commencement of treatment is often crucial for a successful outcome. CONCLUSION: Whenever doubt exists, recompression treatment must be instituted as soon as possible because of the potential for severe sequelae if the patient is left untreated, and because the risks involved in this therapy are minimal. 相似文献
49.
50.
Paley D Matz AL Kurland DB Lamm BM Herzenberg JE 《Journal of pediatric orthopedics》2005,25(4):539-542
To date, the only way to predict adult height in achondroplastic dwarves has been to consult a growth chart. The purpose of this study was to ascertain whether the multiplier method of predicting adult height at skeletal maturity in healthy persons can be applied to persons with achondroplasia. Previous studies have shown that the multiplier method can be applied to lower limb length, upper limb length, total height, foot length, and foot height. It is therefore reasonable to suggest that the growth pattern for total height in achondroplastic dwarves might also be characterized by a multiplier. Total height multipliers for achondroplastic dwarves ("achondroplasia height multipliers") were calculated from two separate databases by dividing height at maturity by height at each respective age for both genders. Little variability was found among multipliers for each age and among multipliers calculated from different databases. Upper torso (sitting height) multipliers and lower limb multipliers were also derived for achondroplastic dwarves. Lower limb and total height growth rates were slower in achondroplastic dwarves compared with healthy persons. However, sitting height multipliers for achondroplastic dwarves were closely related to sitting height multipliers for healthy persons. Because these findings showed that the multiplier values were independent of population and percentile, the multiplier method may be a valid method for quickly predicting height at any age for achondroplastic dwarves. 相似文献