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961.
Seok H Min Laurie L Molday Mathias W Seeliger Astra Dinculescu Adrian M Timmers Andreas Janssen Felix Tonagel Naoyuki Tanimoto Bernhard H F Weber Robert S Molday William W Hauswirth 《Molecular therapy》2005,12(4):644-651
X-linked juvenile retinoschisis (RS) is a common cause of juvenile macular degeneration in males. RS is characterized by cystic spoke-wheel-like maculopathy, peripheral schisis, and a negative (b-wave more reduced than a-wave) electroretinogram (ERG). These symptoms are due to mutations in the RS1 gene in Xp22.2 leading to loss of functional protein. No medical treatment is currently available. We show here that in an Rs1h-deficient mouse model of human RS, delivery of the human RS1 cDNA with an AAV vector restored expression of retinoschisin to both photoreceptors and the inner retina essentially identical to that seen in wild-type mice. More importantly, unlike an earlier study with a different AAV vector and promoter, this work shows for the first time that therapeutic gene delivery using a highly specific AAV5-opsin promoter vector leads to progressive and significant improvement in both retinal function (ERG) and morphology, with preservation of photoreceptor cells that, without treatment, progressively degenerate. 相似文献
962.
Jeon Tae Joo Kim Sungjun Park Jinyoung Park Jung Hyun Roh Eugene Y. 《BMC medical imaging》2018,18(1):1-6
Obesity and high radiologic breast density independently increase breast cancer risk. We evaluated the effect of surgical weight loss on mammographic density (MD). Patients undergoing bariatric surgery and screening mammography (MG) were identified, data regarding demographics, comorbidities, calculated and genetic breast cancer risk was collected. Patients had a MG before and after surgery. Fellowship-trained breast radiologists assigned Breast Imaging Reporting and Data System density categories. Patients underwent sleeve gastrectomy (n = 56) or gastric bypass (n = 7), 78% had hypertension, 48% had diabetes. Four had deleterious BRCA mutations, four were calculated high risk. Mean weight loss = 28.7 kg. Mean initial BMI = 44.3 kg/m2 (range:33–77), final BMI = 33.6 kg/m2 (range:20–62;p < 0.01). Density was unchanged in 53, decreased in 1, increased in 9. Of these 9(14%), 5 changed from almost entirely fatty to scattered MD, and 4 changed from scattered MD to heterogeneously dense. Mean weight loss of the 9 with increased MD was greater than the cohort (37.7vs.28.7 kg;p < 0.01). Surgical weight loss increased MD in 14%. Increased MD masks malignancies, patients may benefit from additional screening based on calculated risk assessments that include MD. 相似文献
963.
Sung-Hoon Jung Je-Jung Lee Jin Seok Kim Chang-Ki Min Kihyun Kim Yunsuk Choi Hyeon-Seok Eom Young Don Joo Sung-Hyun Kim Jae-Yong Kwak Hye Jin Kang Jae Hoon Lee Ho Sup Lee Yeung-Chul Mun Joon Ho Moon Sang Kyun Sohn Seong Kyu Park Yong Park Sung-Soo Yoon 《Biology of blood and marrow transplantation》2018,24(5):923-929
This prospective study evaluated the efficacy and toxicity of intravenous busulfan and melphalan as a conditioning regimen for autologous stem cell transplantation (ASCT) in patients with multiple myeloma (MM). A total of 99 patients with MM, enrolled between January 2013 and March 2016, received intravenous busulfan (9.6?mg/kg) and melphalan (140?mg/m2) before ASCT. The median time to transplant was 6.2 months, and 90 (90.9%) patients underwent ASCT within 12 months of the diagnosis. The overall response rate after ASCT was 94.0%, including 43.5% with a stringent complete response/complete response, 27.3% with very good partial response, and 23.2% with partial response. The most common severe nonhematologic toxicity (grade 3 to 4) was infection (26.3%) and stomatitis (15.2%). Three (3.2%) patients developed veno-occlusive disease. No treatment-related mortality was observed. After a median follow-up of 26.1 months, the median progression-free survival was 27.2 months (range, 13.0 to 41.4 months) and median overall survival was not reached. In conclusion, a conditioning regimen of intravenous busulfan and melphalan was effective and tolerable.ClinicalTrials.gov. number: NCT01923935 相似文献
964.
Kim TY Kim WB Kim ES Ryu JS Yeo JS Kim SC Hong SJ Shong YK 《The Journal of clinical endocrinology and metabolism》2005,90(3):1440-1445
We investigated whether serum thyroglobulin (Tg) measured at the time of remnant ablation (ablation-Tg) could be a prognostic indicator complementary to serum Tg levels at the time of the first diagnostic whole-body scan (WBS) after thyroid hormone withdrawal (control-Tg; approximately 6-12 months after ablation-Tg) and whether ablation-Tg could predict the persistence or recurrence of disease in low-risk patients with differentiated thyroid carcinoma. Patients with differentiated thyroid carcinoma (n = 268) treated with total or near-total thyroidectomy followed by immediate (131)I remnant ablation were studied. Patients with anti-Tg autoantibodies and those showing evidence of extracervical metastases were excluded. Two patients showing remnant uptake on follow-up diagnostic WBS received a second ablation. We found significant correlation between ablation-Tg and control-Tg levels; 114 of 143 patients (80%) with ablation-Tg greater than 2 microg/liter showed detectable (>/=1 microg/liter) control-Tg, and 70 of 125 (56%) patients with ablation-Tg 2 microg/liter or less showed undetectable (<1 microg/liter) control-Tg [odds ratio 5.1, 95% confidence interval (CI) 3.0-8.9, P < 0.001]. When the 268 patients were followed up for a mean period of 5.7 +/- 1.4 yr (range 2.8-8.3 yr), 35 (13%) had recurrences; 73 (27%) were classified as "Tg positive, no evidence of disease"; and 160 (60%) showed complete remission. Of 143 patients with ablation-Tg greater than 2 microg/liter, recurrence was observed in 33 cases (23%); "Tg positive, no evidence of disease," was observed in 52 cases (36%); and complete remission was observed in 58 cases (41%). Of 125 patients with ablation-Tg 2 microg/liter or less, two patients (2%) showed recurrence during the follow-up; 21 patients (17%) were regarded as "Tg positive, no evidence of disease"; and 102 patients (81%) showed complete remission. The positive predictive value for recurrence in patients having ablation-Tg greater than 2 microg/liter was found to be 23.1% (33 of 143 patients, 95% CI 16.4-30.8%). The negative predictive value for recurrence in patients having ablation-Tg 2 microg/liter or less was found to be 98.4% (123 of 125 patients, 95% CI 94.4-99.8%). These data indicate that serum Tg levels measured at the time of immediate postoperative (131)I remnant ablation correlated well with serum Tg levels at the time of the initial diagnostic WBS and had a complementary role for predicting persistence or recurrence of disease in the earliest postoperative period. 相似文献
965.
Young Eun Kim Ji Soo Kim Hui-Jun Yang Ji Young Yun Han-Joon Kim Gwanhee Ehm Jong-Min Kim Beom S. Jeon 《Cerebellum (London, England)》2016,15(2):152-158
Even though the pathophysiology is not completely understood, cerebellar dysfunction has been invoked in essential tremor (ET). We evaluated cerebellar dysfunction in ET with the presence of perverted head-shaking (pHSN) and positional downbeat nystagmus (pDBN) which are known to reflect cerebellar dysfunction. First, we reviewed the videooculography (VOG) of 185 patients with ET from March 2007 to April 2010. Seventeen of 28 patients with pHSN and pDBN were followed up for at least a 1.8-year interval from baseline to determine the clinical course. And then, we recruited 52 consecutive patients with ET and compared their ocular motor findings with 51 normal controls using VOG. Among the 185 patients with ET, 28 (15.1 %) showed pHSN (n?=?23, 12.4 %) or pDBN (n?=?8, 4.3 %). Seventeen of them who were followed up did not develop Parkinsonism or other neurologic deficits during the observation period. The subsequent case-control study showed a higher prevalence of pHSN or pDBN (11/52, 21.2 %, pHSN in nine and pDBN in five) in patients with ET than in the normal controls (2/51, 3.9 %, pHSN only, P?=?0.015). The tremor rating scale or involved body sites did not differ between the patients with and without pHSN/pDBN. pHSN and pDBN were more common in patients with ET than in the normal controls. This result supports that cerebellar dysfunction is associated with ET. 相似文献
966.
967.
HLA‐B*40:02 and DRB1*04:03 are risk factors for oxcarbazepine‐induced maculopapular eruption 下载免费PDF全文
968.
Dong‐Gun Kim MD Je‐young Shin MD Kee Hong Park MD Sung‐Yeon Sohn MD Kwang‐Woo Lee MD Kyung Seok Park MD Jung‐Joon Sung MD 《Muscle & nerve》2016,53(6):885-888
Introduction: The split‐hand phenomenon refers to preferential wasting of the thenar muscles with relative sparing of the hypothenar muscles in amyotrophic lateral sclerosis (ALS). Methods: We compared the split‐hand index (SI) calculated from the compound muscle action potential (CMAP; SICMAP) with that calculated from the motor unit number index (MUNIX; SIMUNIX). We performed MUNIX on the abductor policis brevis (APB), first dorsal interosseous (FDI), and abductor digiti minimi (ADM) muscles of 39 ALS patients and 40 age‐matched, healthy controls. SI is derived by multiplying the CMAP (or MUNIX) recorded over the APB and FDI and dividing by the CMAP (or MUNIX) recorded over the ADM. Results: Receiver‐operating characteristic curve analysis revealed good diagnostic accuracy for both indices, but better performance of SIMUNIX than SICMAP. Conclusion: SIMUNIX and SICMAP were useful in differentiating ALS patients from healthy controls. SIMUNIX appears to be a better electrophysiological marker than SICMAP for the split‐hand sign of ALS. Muscle Nerve 53 : 885–888, 2016 相似文献
969.
Intramuscular nerve distribution pattern of ankle invertor muscles in human cadaver using sihler stain 下载免费PDF全文
Kyu‐Ho Yi PT Dong‐Wook Rha MD PhD Sang Chul Lee MD PhD Liyao Cong MS Hyung‐Jin Lee MS Yong‐Woong Lee Hee‐Jin Kim DDS PhD Kyung‐Seok Hu DDS PhD 《Muscle & nerve》2016,53(5):742-747
Introduction: We sought to the ideal sites for botulinum toxin injection by examining the intramuscular nerve patterns of the ankle invertors. Methods: A modified Sihler method was performed on the flexor hallucis longus, tibialis posterior, and flexor digitorum longus muscles (10 specimens each). The muscle origins, nerve entry points, and intramuscular arborization areas were measured as a percentage of the total distance from the most prominent point of the lateral malleolus (0%) to the fibular head (100%). Results: Intramuscular arborization patterns were observed at 20–50% for the flexor hallucis longus, 70–80% for the tibialis posterior, and 30–40% for the flexor digitorum longus. Conclusions: These findings suggest that treatment of muscle spasticity of the ankle invertors involves botulinum toxin injections in specific areas. These areas, corresponding to the areas of maximum arborization, are recommended as the most effective and safest points for injection. Muscle Nerve 53 : 742–747, 2016 相似文献
970.
ObjectiveThroughout the past several years, there have been a number of entertainment celebrity suicides in South Korea. The aim of this study was to investigate the clustering of suicides following celebrities'' suicides in South Korea from 2005 to 2008, particularly according to certain characteristics.MethodsSeven celebrity suicides were examined and defined using the Korean Integrated Newspaper Database System (KINDS) and from these, we considered four affected periods occurring 28 days after each celebrity''s suicide. A Poisson time-series autoregression model was used to estimate the relative risk of the total suicide number for each affected period from 2005 to 2008. Logistic regression analysis was performed to investigate whether there were specific increases in the numbers of suicides in subgroups matching each celebrity.ResultsThere were significant increases in the risk of suicide during the affected periods. Remarkable increases were found in the subgroups matching each celebrity, especially in the group in which all factors (sex, age, and method) were similar.ConclusionThis study provides confirmation that a significant copycat effect was induced by these celebrities'' suicides, especially among people who identified more with the celebrities. This implies that countermeasures for upright media coverage of celebrity suicides should be discussed and practiced properly in South Korea. 相似文献